uniProtId	entrezGeneId	mutagenesis	polymorphism	GObiolProcess	GObiolProcessId	GOmolFunction	GOmolFunctionId	GOcellComponent	GOcellComponentId	extUniProtIds	OMIM	dbSNP	mutPolyFlag
A0AVK6	79733	<ul><li>R->A at 156: Loss of DNA-binding and inhibition of E2F1-dependent activation</li><li>R->A at 314: Loss of DNA-binding and inhibition of E2F1-dependent activation</li></ul>	<li>I->V at 674: in dbSNP:rs793274</li>			DNA-binding	GO:0003677			<li>Q01094</li><li>Q90977</li><li>Q27368</li>		rs793274	3
A0AVT1	55236	<ul><li>C->A,S at 625: Impairs ubiquitin activation</li></ul>	<li>A->T at 224: in dbSNP:rs10010188</li>							<li>P69326</li><li>P08565</li><li>P69322</li><li>P69323</li><li>P69324</li><li>P69325</li><li>P68196</li><li>O46543</li><li>P68197</li><li>Q05550</li><li>P68198</li><li>P68199</li><li>P19848</li><li>P68195</li><li>P42739</li><li>Q867C2</li><li>P62991</li><li>P62990</li><li>P61863</li><li>P61864</li><li>P61862</li><li>Q867C4</li><li>Q867C3</li><li>P23398</li><li>P68204</li><li>P84589</li><li>Q865C5</li><li>P42740</li><li>P68201</li><li>Q8MKD1</li><li>P14792</li><li>P63049</li><li>P0C072</li><li>P63051</li><li>P69308</li><li>P69309</li><li>P20685</li><li>P15174</li><li>P62976</li><li>P62977</li><li>P62974</li><li>P62975</li><li>P62972</li><li>P13117</li><li>P14624</li><li>P62973</li><li>P46574</li><li>P69310</li><li>P69313</li><li>P69314</li><li>P69311</li><li>P69312</li><li>P08618</li><li>P69317</li><li>P69318</li><li>P0C014</li><li>P69315</li><li>P69316</li><li>P59263</li><li>P69319</li><li>P49634</li><li>P49635</li><li>P22589</li><li>Q9Y848</li><li>P62988</li><li>P62989</li><li>P23324</li><li>P69321</li><li>P69320</li><li>P59669</li>		rs10010188	3
A6H8Y1	55814	<ul><li>S->A at 390: Not phosphorylated by CSNK2A1; when associated with A-426; A-431; A-437 and A-446. CK2 treatment constituvely activates for U6 transcription; when associated with A-426; A-431; A-437 and A-446</li><li>S->A at 426: Not phosphorylated by CSNK2A1; when associated with A-390; A-431; A-437 and A-446. CK2 treatment constituvely activates for U6 transcription; when associated with A-390; A-431; A-437 and A-446</li><li>S->A at 431: Not phosphorylated by CSNK2A1; when associated with A-390; A-426; A-437 and A-446. CK2 treatment constituvely activates for U6 transcription; when associated with A-390; A-426; A-437 and A-446</li><li>T->A at 437: Not phosphorylated by CSNK2A1; when associated with A-390; A-426; A-431 and A-446. CK2 treatment constituvely activates for U6 transcription; when associated with A-390; A-426; A-431 and A-446</li><li>S->A at 446: Not phosphorylated by CSNK2A1; when associated with A-390; A-426; A-431 and A-437. CK2 treatment constituvely activates for U6 transcription; when associated with A-390; A-426; A-431 and A-437</li></ul>	<li>E->D at 38: in dbSNP:rs3748043</li><li>C->R at 757: in dbSNP:rs3761966</li><li>V->M at 778: in dbSNP:rs3761967</li><li>M->I at 1264: in dbSNP:rs715747</li><li>M->V at 1347: in dbSNP:rs6886336</li><li>K->E at 1469: in dbSNP:rs1698063</li><li>L->I at 2013: in dbSNP:rs6453014</li>	transcription	GO:0006350					<li>Q65ZV5</li><li>P33674</li><li>P21868</li><li>P43893</li><li>O51759</li><li>P68399</li><li>P68400</li>		<li>rs3761967</li><li>rs3761966</li><li>rs715747</li><li>rs6453014</li><li>rs6886336</li><li>rs3748043</li><li>rs1698063</li>	3
A7KAX9	9743	<ul><li>Y->A at 173: Loss of binding to phospholipids. Cytoplasmic localization</li><li>R->A at 407: Mild effect on GAP activity and neurite-promotion upon nerve growth factor stimulation</li><li>R->I at 407: Loss of GAP activity</li><li>R->M at 407: Loss of GAP activity. In isoform 1, no inhibitory effect on neurite extension</li><li>K->A at 447: Loss of GAP activity</li></ul>		localization	GO:0051179	binding	GO:0005488			<li>P20936</li><li>Q92263</li><li>P09851</li><li>Q92211</li><li>Q5PEA9</li><li>P74873</li><li>P74851</li><li>P50904</li>			1
A8K4G0	124599	<ul><li>K->L at 158: Abolishes interaction with TYROBP, and strongly reduces activation properties</li><li>Y->F at 188: No effect on interaction with TYROBP, but strongly reduces activation properties</li></ul>								<li>Q95J79</li><li>Q9TU45</li><li>Q8WNQ8</li><li>O43914</li>			1
O00115	1777	<ul><li>C->A at 19: Loss of activity</li><li>N->Q at 86: Reduced N-glycosylation, complete loss of N-glycosylation; when associated with Q-212; Q-266 and Q-290</li><li>C->A at 151: Loss of activity</li><li>C->A at 159: Loss of activity</li><li>N->Q at 212: Reduced N-glycosylation, complete loss of N-glycosylation; when associated with Q-86; Q-266 and Q-290</li><li>N->Q at 266: Reduced N-glycosylation, complete loss of N-glycosylation; when associated with Q-86; Q-212 and Q-290</li><li>C->A at 267: Loss of activity</li><li>N->Q at 290: Reduced N-glycosylation, complete loss of N-glycosylation; when associated with Q-86; Q-212 and Q-266</li><li>H->A,K,N,R,S at 295: Loss of activity, but not of DNA-binding</li><li>C->A at 299: No effect</li><li>C->A at 308: Loss of activity</li><li>C->A at 327: Loss of activity</li><li>C->A at 347: Loss of activity</li></ul>	<li>R->I at 39: in dbSNP:rs36075196</li><li>H->R at 204: in dbSNP:rs16978744</li><li>R->L at 314: in dbSNP:rs1061192</li>			DNA-binding	GO:0003677					<li>rs36075196</li><li>rs1061192</li><li>rs16978744</li>	3
O00141	6446	<ul><li>K->M at 127: Abolishes enzymatic activity</li><li>T->A at 256: Low activity</li><li>T->D at 256: Low activity</li><li>T->E at 256: Low activity</li><li>Y->A at 298: Abolishes interaction with NEDD4 and NEDD4L</li><li>S->A at 422: Low activity</li><li>S->D at 422: 10-fold activation</li></ul>	<li>V->I at 219: in dbSNP rsrs34133418</li><li>A->V at 342: in dbSNP rsrs55932330</li>							<li>Q5RBF2</li><li>Q96PU5</li><li>P46934</li>		<li>rs34133418</li><li>rs55932330</li>	3
O00180	3775	<ul><li>T->A at 161: No effect on channel activity</li></ul>											1
O00187	10747	<ul><li>Y->A at 74: Strongly decreases affinity for MBL2. Decreases affinity for FCN2</li><li>Y->A at 121: Strongly decreases affinity for MBL2, but not for FCN2</li><li>E->A at 124: Decreases affinity for MBL2. Slight decrease in affinity for FCN2</li></ul>	<li>R->Q at 99: in Sub-Saharans but not in North Africans or Spaniards</li><li>R->C at 118: in North Africans but not in Sub-Saharans or Spaniards</li><li>D->G at 120: in North Africans but not in Sub-Saharans or Spaniards; strongly decreases affinity for MBL2 and FCN2</li><li>P->L at 126: in Spaniards and North Africans but not in Sub-Saharans: in dbSNP rsrs56392418</li><li>H->R at 155: in dbSNP:rs2273343</li><li>Y->D at 371: in dbSNP:rs12711521</li><li>V->A at 377: in dbSNP:rs2273346</li><li>R->H at 439: in dbSNP:rs12085877</li>							<li>Q15485</li><li>Q66S41</li><li>Q66S50</li><li>Q66S60</li><li>Q66S61</li><li>Q66S62</li><li>Q66S63</li><li>Q66S54</li><li>Q66S65</li><li>Q66S37</li><li>Q66S64</li><li>P11226</li><li>Q66S45</li><li>Q66S58</li>		<li>rs2273343</li><li>rs12711521</li><li>rs12085877</li><li>rs2273346</li><li>rs56392418</li>	3
O00204	6820	<ul><li>Missing at 1-23: Loss of the cholesterol sulfotransferase activity</li><li>Missing at 1-18: Increases the cholesterol sulfotransferase activity</li><li>D->A at 19: Increases the cholesterol sulfotransferase activity</li><li>I->A at 20: Loss of the cholesterol sulfotransferase activity</li><li>S->A at 21: Increases the cholesterol sulfotransferase activity</li><li>E->A at 22: Increases the cholesterol sulfotransferase activity</li><li>I->A at 23: Loss of the cholesterol sulfotransferase activity</li></ul>	<li>L->S at 51: in dbSNP:rs16982149</li><li>V->I at 240: in dbSNP:rs2302947</li><li>M->I at 301</li><li>P->L at 345: in dbSNP:rs17842463</li>			sulfotransferase activity	GO:0008146					<li>rs17842463</li><li>rs16982149</li><li>rs2302947</li>	3
O00206	7099	<ul><li>N->A at 526: Abolishes LPS-response and prevents the cell surface expression</li><li>N->A at 575: Abolishes LPS-response and prevents the cell surface expression</li><li>E->R at 697: Abolishes LPS-response</li><li>R->E at 710: Abolishes LPS-response</li><li>D->K at 711: Abolishes LPS-response</li><li>P->H,R,E at 714: Abolishes MYD88-binding and LPS-response</li></ul>	<li>T->A at 175: in dbSNP:rs16906079</li><li>Q->R at 188: in dbSNP:rs5030713</li><li>C->S at 246: in dbSNP:rs5030714</li><li>D->G at 299: in allele TLR4*B; reduced LPS-response; associated with an increased risk for ARMD10 in Caucasian patients carriers; dbSNP:rs4986790</li><li>C->W at 306: in dbSNP:rs2770145</li><li>V->G at 310: in dbSNP:rs2770144</li><li>N->S at 329: in dbSNP:rs5030715</li><li>F->Y at 342: in dbSNP:rs5031050</li><li>L->F at 385: in dbSNP:rs11536884</li><li>T->I at 399: in allele TLR4*B; reduced LPS-response; dbSNP:rs4986791</li><li>S->N at 400: in dbSNP:rs4987233</li><li>F->L at 443: in dbSNP:rs5030716</li><li>E->K at 474: in dbSNP:rs5030718</li><li>Q->H at 510: in dbSNP:rs5030719</li><li>K->R at 694: in dbSNP:rs5030722</li><li>R->H at 763: in dbSNP:rs5030723</li><li>Q->H at 834</li>			binding	GO:0005488	cell surface	GO:0009928,GO:0009986	<li>Q9GL65</li><li>Q8SPE8</li><li>P58727</li><li>Q2V898</li><li>Q99836</li><li>Q9WV82</li><li>Q9TTN0</li><li>O00206</li><li>Q9TSP2</li><li>Q9MYW3</li><li>Q68Y56</li><li>Q8SPE9</li>		<li>rs5030723</li><li>rs5030722</li><li>rs2770145</li><li>rs2770144</li><li>rs11536884</li><li>rs4987233</li><li>rs5031050</li><li>rs4986791</li><li>rs16906079</li><li>rs4986790</li><li>rs5030718</li><li>rs5030719</li><li>rs5030713</li><li>rs5030714</li><li>rs5030715</li><li>rs5030716</li>	3
O00221	4794	<ul><li>K->R at 145: No effect</li><li>S->A at 157: No degradation</li><li>S->A at 161: No degradation</li></ul>	<li>H->Q at 95: in dbSNP:rs28362857</li><li>V->A at 194: in dbSNP:rs2233434</li>									<li>rs2233434</li><li>rs28362857</li>	3
O00254	2151	<ul><li>T->P at 39: No proteolytic cleavage by thrombin</li><li>F->A at 40: Altered signal upon thrombin cleavage</li></ul>	<li>L->S at 15: in dbSNP:rs2069649</li><li>M->V at 177: in dbSNP:rs2069700</li><li>N->D at 250: in dbSNP:rs2069683</li>							P84122		<li>rs2069700</li><li>rs2069649</li><li>rs2069683</li>	3
O00267	6829	<ul><li>R->A at 681: Enhances interactions with CDK9 and RNA polymerase II and enhances transcriptional elongation; when associated with A-696 and A-698</li><li>R->K at 681: Increases promoter association and enhances transcriptional elongation; when associated with K-696 and K-698</li><li>R->A at 696: Enhances interactions with CDK9 and RNA polymerase II and enhances transcriptional elongation; when associated with A-681 and A-698</li><li>R->K at 696: Increases promoter association and enhances transcriptional elongation; when associated with K-681 and K-698</li><li>R->A at 698: Enhances transcriptional elongation. Enhances interactions with CDK9 and RNA polymerase II and enhances transcriptional elongation; when associated with A-681 and A-696</li><li>R->K at 698: Increases promoter association and enhances transcriptional elongation; when associated with K-681 and K-696</li><li>G->D at 1002: Defective in regulation of transcriptional elongation</li></ul>								<li>Q5EAB2</li><li>Q5ZKN1</li><li>P50750</li>			1
O00291	3092	<ul><li>K->E at 56: Abolishes 3-phosphoinositide-binding; when associated with GLU-58</li><li>K->E at 58: Abolishes 3-phosphoinositide-binding; when associated with GLU-56</li><li>F->G at 432: Abolishes HIP1-induced cell death</li><li>R->E at 1005: Reduces AR-induced nuclear translocation</li></ul>	<li>M->K at 263: in dbSNP:rs17149023</li>	cell death	GO:0008219	phosphoinositide-binding	GO:0035091			<li>O00291</li><li>P06775</li>		rs17149023	3
O00300	4982	<ul><li>Missing at 400-401: Abolishes dimerization</li><li>C->S at 400: Abolishes dimerization</li></ul>	<li>K->N at 3: in dbSNP:rs2073618</li><li>V->M at 104: in dbSNP:rs11573906</li><li>Missing  at 182: in JPD</li>									<li>rs11573906</li><li>rs2073618</li>	3
O00327	406	<ul><li>S->A,E at 9: Enhanced PER1 reporter activity by CLOCK-ARNTL</li><li>S->F at 9: 2-2.5-fold increase in CLOCK-BMAL1 transcriptional activity in the absence of CRY1. No change in repression activity in the presence of CRY1</li><li>S->A,E at 10: Enhanced PER1 reporter activity by CLOCK-ARNTL</li><li>S->L at 10: 2-2.5-fold increase in CLOCK-ARNTL transcriptional activity in the absence of CRY1. No change in repression activity in the presence of CRY1</li><li>A->S,T at 611: Increased desensitization to CRY1, in the presence of CLOCK. Approximately 2-fold increase in CLOCK-ARNTL transcriptional activity in the absence of CRY1; when associated with E-407</li><li>G->E at 612: Increased desensitization to CRY1, in the presence of CLOCK. Approximately 2-fold increase in CLOCK-ARNTL transcriptional activity in the absence of CRY1</li></ul>								<li>Q96506</li><li>Q5R4T2</li><li>Q70AD6</li><li>O61734</li><li>Q9I8T7</li><li>Q00925</li><li>O61735</li><li>Q8QG61</li><li>Q5IZC5</li><li>P27069</li><li>Q43125</li><li>O04005</li><li>Q8K3T3</li><li>O00327</li><li>Q6YGZ5</li><li>Q6YGZ4</li><li>P06367</li><li>Q5RAK8</li><li>Q16526</li><li>O88529</li><li>P52572</li><li>Q6ZZY0</li><li>Q91YA9</li><li>O15516</li><li>O15534</li><li>Q8WP19</li><li>Q8QGQ6</li><li>P25625</li><li>P46295</li>			1
O00329	5293	<ul><li>R->P at 894: Abolishes lipid and protein kinase activities</li><li>S->A at 1039: Abolishes autophosphorylation, no effect on lipid kinase activity</li><li>S->D,E at 1039: Abolishes autophosphorylation, reduced lipid kinase activity</li></ul>		autophosphorylation	GO:0046777	lipid kinase activity	GO:0001727			<li>P00513</li><li>P25848</li>			1
O00330	8050	<ul><li>R->A at 183: Strongly decreased DLD binding</li><li>S->A at 185: Strongly decreased DLD binding</li><li>P->A at 186: Strongly decreased DLD binding</li><li>A->M at 187: Strongly decreased DLD binding</li><li>R->A at 189: Strongly decreased DLD binding</li><li>N->A at 190: Strongly decreased DLD binding</li><li>E->A at 193: Strongly decreased DLD binding</li><li>R->A at 208: Strongly decreased DLD binding</li><li>I->A at 210: Strongly decreased DLD binding</li><li>K->A at 213: Strongly decreased DLD binding</li><li>E->A at 214: Strongly decreased DLD binding</li></ul>	<li>R->C at 23: in dbSNP:rs1049306</li><li>T->A at 101: in dbSNP:rs11539202</li><li>D->V at 370: in dbSNP:rs17850649</li>			binding	GO:0005488			<li>Q60HG3</li><li>Q86WU2</li><li>Q5R4B1</li><li>Q7TNG8</li><li>P49819</li><li>P32891</li><li>P09622</li><li>Q12627</li><li>Q8CIZ7</li><li>P09623</li>		<li>rs11539202</li><li>rs1049306</li><li>rs17850649</li>	3
O00429	10059	<ul><li>K->A at 38: Impairs mitochondrial division and induces changes in peroxisome morphology</li><li>K->E at 38: Overexpression delays protein secretion</li><li>S->I at 39: Decreased localization to the perinuclear region</li><li>S->N at 39: Reduces peroxisomal abundance</li><li>V->F at 41: Temperature-sensitive. Impairs mitochondrial division</li><li>T->A at 59: Impairs mitochondrial division. Reduces peroxisomal abundance</li><li>G->D at 281: Temperature-sensitive. Impairs mitochondrial division</li></ul>	<li>S->T at 71: in dbSNP:rs1064610</li><li>E->D at 426: in dbSNP:rs2389105</li>	<li>protein secretion</li><li>mitochondrial division</li><li>localization</li>	<li>GO:0009306</li><li>GO:0000266</li><li>GO:0051179</li>			peroxisome	GO:0005777			<li>rs2389105</li><li>rs1064610</li>	3
O00443	5286	<ul><li>LLLDD->AAAAA at 103-107: Reduces clathrin binding</li><li>S->A at 254: No effect on phosphorylation in vitro</li><li>S->A,D,E at 259: Abolishes phosphorylation, no change in activity</li><li>S->A at 259: Protects from proteolysis</li><li>S->A at 262: No effect on phosphorylation in vitro</li><li>S->A at 266: No effect on phosphorylation in vitro</li><li>R->A at 1488: Reduces affinity for PtdIns(4,5)P2-containing membranes 7-fold</li><li>V->A at 1490: Reduces affinity for PtdIns(4,5)P2-containing membranes 7-fold</li><li>L->A at 1491: Reduces affinity for PtdIns(4,5)P2-containing membranes 5-fold</li><li>R->A at 1493: Reduces affinity for PtdIns(4,5)P2-containing membranes 23-fold</li><li>R->A at 1503: Abolishes interaction with PtdIns(4,5)P2-containing membranes</li></ul>	<li>T->A at 1415: in dbSNP:rs11604561</li>	phosphorylation	GO:0016310	clathrin binding	GO:0030276	membranes	GO:0016020			rs11604561	3
O00482	2494	<ul><li>Y->A at 96: Slightly reduced DNA binding. Strongly reduced transactivation; when associated with A-168 and A-172</li><li>F->A at 168: Slightly reduced DNA binding. Strongly reduced transactivation; when associated with A-96 and A-172</li><li>GP->VA at 169-170: Reduced DNA binding. Loss of transactivation</li><li>Y->A at 172: Slightly reduced DNA binding. Strongly reduced transactivation; when associated with A-96 and A-168</li><li>F->W at 342: Reduced phospholipid binding. Strongly reduced transactivation; when associated with W-416</li><li>I->W at 416: Reduced phospholipid binding. Strongly reduced transactivation; when associated with W-342</li></ul>				<li>phospholipid binding</li><li>DNA binding</li>	<li>GO:0005543</li><li>GO:0003677</li>						1
O00506	10494	<ul><li>K->R at 49: Loss of kinase activity and autophosphorylation</li><li>D->A at 158: Loss of kinase activity</li></ul>	<li>Q->H at 64: in dbSNP:rs34341643</li>	autophosphorylation	GO:0046777	kinase activity	GO:0016301					rs34341643	3
O00562	9600	<ul><li>T->A at 59: Prevents association with lipid droplets</li><li>T->E at 59: Causes association with lipid droplets</li><li>T->A at 287: Slightly reduced phosphorylation. Strongly reduced phosphorylation; when associated with A-794 or A-389. Loss of threonine phosphorylation; when associated with A-389; A-793 and A-1222</li><li>S->A at 300: No effect on phosphorylation</li><li>S->A at 326: No effect on phosphorylation</li><li>EFFDA->ALLAG at 349-353: Loss of interaction with VAPB</li><li>S->A at 382: Strongly reduced phosphorylation</li><li>T->A at 389: No detectable effect on phosphorylation; when associated with A-793 and A-1222. Strongly reduced phosphorylation; when associated with A-287. Loss of threonine phosphorylation; when associated with A-287; A-794 and A-1222</li><li>T->A at 794: No detectable effect on phosphorylation; when associated with A-389 and A-1222. Strongly reduced phosphorylation; when associated with A-287. Loss of threonine phosphorylation; when associated with A-287; A-389 and A-1222</li><li>S->A at 896: Reduced phosphorylation</li><li>T->A at 1223: No detectable effect on phosphorylation; when associated with A-389 and A-793. Loss of threonine phosphorylation; when associated with A-287; A-389 and A-794</li></ul>		phosphorylation	GO:0016310			lipid droplets	GO:0005811	<li>O95292</li><li>Q25691</li>			1
O00571	1654	<ul><li>K->E at 230: Abolishes ATPase activity and RNA-unwinding activity</li><li>S->L at 382: Abolishes ATPase activity and RNA-unwinding activity</li></ul>	<li>R->T at 294: in a breast cancer sample; somatic mutation</li>			ATPase activity	GO:0016887						3
O00623	5193	<ul><li>C->W at 304: Abolishes interaction with PEX19; when associated with Q-307</li><li>C->Q at 307: Abolishes interaction with PEX19; when associated with W-304</li></ul>	<li>L->I at 245: in dbSNP:rs12941376</li><li>S->F at 320: in NALD; attenuates interaction with PEX10 and decreases peroxisomal protein import: in dbSNP rsrs28936697</li>	protein import	GO:0017038					<li>O60683</li><li>Q9SYU4</li><li>Q8HXW8</li><li>Q92265</li><li>Q05568</li><li>P40855</li><li>Q3SZD1</li><li>Q60415</li><li>Q00940</li><li>Q07418</li><li>Q5R7U2</li>		<li>rs12941376</li><li>rs28936697</li>	3
O00762	11065	<ul><li>C->S at 114: Inhibition of cyclin B degradation</li></ul>	<li>G->D at 25</li>							<li>P04961</li><li>P22177</li><li>O16852</li><li>Q00268</li><li>Q00265</li><li>P24314</li><li>P61074</li><li>P17070</li><li>P17917</li><li>P18248</li><li>P31008</li><li>P17918</li><li>P53358</li><li>O01377</li><li>P12004</li>			3
O14497	8289	<ul><li>W->A at 1073: Partial loss of DNA-binding activity. Complete loss of activity; when associated with A-1096</li><li>Y->A at 1096: Partial loss of DNA-binding activity. Complete loss of activity; when associated with A-1073</li></ul>				DNA-binding	GO:0003677						1
O14512	30837	<ul><li>RDS->KDC at 425-427: Loss of IRS1 ubiquitination and degradation</li></ul>								<li>Q28224</li><li>P35568</li><li>P09715</li>			1
O14543	9021	<ul><li>L->A,F at 22: Little effect on EPO-induced STAT5 signaling suppression</li><li>L->D at 22: Complete loss of EPO-induced STAT5 signaling suppression. No suppression of JAK2 phosphorylation</li><li>F->A at 25: Complete loss of EPO-induced STAT5 signaling suppression. Abolishes binding to JH1</li><li>E->R at 30: Partial loss of EPO-induced STAT5 signaling suppression. No effect on LIF-induced signaling suppression. Abolishes binding to JH1. Inhibits JAK2 phosphorylation</li><li>Y->A at 31: Complete loss of EPO-induced STAT5 signaling suppression. No effect on LIF-induced STAT3 signaling. Abolishes binding to JH1</li><li>Y->F at 31: Little effect on EPO-induced signaling suppression</li><li>V->E at 34: Complete loss of EPO/LIF-induced signaling suppression</li><li>L->R at 41: Complete loss of EPO/LIF-induced signaling inhibition. Abolishes binding to JH1</li><li>G->A at 45: Little effect on EPO/LIF signaling</li><li>G->V at 53: No effect on binding to Y429/Y431 phosphorylated EPOR</li><li>L->A at 58: Impaired binding to Y429/Y431 phosphorylated EPOR</li><li>R->E at 71: Complete loss of EPO/LIF-induced signaling suppression. No inhibition of JAK2 phosphorylation</li><li>R->K at 71: No effect on EPO/LIF-induced signaling suppression. Partial suppression of JAK2 phosphorylation. No effect on binding to JH1. Loss of binding to IL12RB2</li><li>L->A at 93: Impaired binding to Y429/Y431 phosphorylated EPOR</li><li>R->E at 94: Greatly impaired binding to Y429/Y431 phosphorylated EPOR</li></ul>	<li>H->Y at 125: in dbSNP:rs1061489</li>	phosphorylation	GO:0016310	binding	GO:0005488			<li>Q27956</li><li>Q8MJS1</li><li>P17777</li><li>P07865</li><li>P61635</li><li>P42229</li><li>P49157</li><li>P09056</li><li>Q6H8T2</li><li>Q6H8T1</li><li>O60674</li><li>Q99665</li><li>Q28513</li><li>Q2KL21</li><li>Q9BEG2</li><li>Q9MYZ9</li><li>O62728</li><li>P49290</li><li>P33709</li><li>P42231</li><li>P15018</li><li>Q9GKA2</li><li>P19235</li><li>Q867B1</li><li>P33707</li><li>P48617</li><li>P11678</li><li>P33708</li><li>P01588</li><li>P80550</li><li>Q6H8S9</li><li>P40763</li>		rs1061489	3
O14613	10435	<ul><li>HTIH->ATIA at 39-42: No binding with CDC42; no induced pseudopodia formation</li></ul>	<li>N->S at 176: in dbSNP:rs4149839</li><li>I->F at 191: in dbSNP:rs7120634</li>			binding	GO:0005488			<li>O94103</li><li>Q90694</li><li>O14426</li><li>P60953</li><li>P60952</li><li>Q17031</li><li>Q9HF56</li><li>P19073</li>		<li>rs7120634</li><li>rs4149839</li>	3
O14618	9973	<ul><li>C->S at 22: Reduces copper binding by half; when associated with S-25. Negligible effect on zinc binding</li><li>C->S at 25: Reduces copper binding by half; when associated with S-22. Negligible effect on zinc binding</li><li>C->S at 244: Reduces copper binding by half; when associated with S-246. Negligible effect on zinc binding</li><li>C->S at 246: Reduces copper binding by half; when associated with S-244. Negligible effect on zinc binding</li></ul>				<li>copper binding</li><li>zinc binding</li>	<li>GO:0005507</li><li>GO:0008270</li>						1
O14649	3777	<ul><li>H->N at 98: Greatly reduces pH sensitivity</li></ul>											1
O14654	8471	<ul><li>Y->F at 700: No effect. Reduces interaction with CRK by 50%; when associated with F-717. Abolishes interaction with CRK; when associated with F-717; F-743 and F-779</li><li>Y->F at 717: No effect. Reduces interaction with CRK by 50%; when associated with F-700. Abolishes interaction with CRK; when associated with F-700; F-743 and F-779</li><li>Y->F at 743: No effect. Reduces interaction with CRK by 50%; when associated with F-779. Abolishes interaction with CRK; when associated with F-700; F-717 and F-779</li><li>Y->F at 779: No effect. Reduces interaction with CRK by 50%; when associated with F-743. Abolishes interaction with CRK; when associated with F-700; F-717 and F-743</li></ul>	<li>A->V at 20: in a colorectal cancer sample; somatic mutation</li><li>L->F at 34: in dbSNP:rs1801162</li><li>G->E at 215: in a colorectal cancer sample; somatic mutation</li><li>N->K at 508: in dbSNP:rs34287560</li><li>G->R at 557: in a colorectal cancer sample; somatic mutation</li><li>H->D at 879: in dbSNP:rs1801164</li>							<li>Q01917</li><li>Q04929</li><li>P54664</li><li>P53681</li><li>P46108</li>		<li>rs1801164</li><li>rs34287560</li><li>rs1801162</li>	3
O14713	9270	<ul><li>T->D at 38: Changes in cell spreading</li><li>L->A at 82: Decrease in binding to beta 1 integrin; when associated with T-144 no binding to beta 1 integrin</li><li>L->Q at 82: No change in binding to beta 1 integrin</li><li>L->Q at 86: No change in binding to beta 1 integrin; when associated with T-144 no binding to beta 1 integrin</li><li>L->A at 135: No binding to beta 1 integrin</li><li>I->A at 138: No binding to beta 1 integrin</li><li>I->A at 139: No binding to beta 1 integrin</li><li>Y->T at 144: No binding to beta 1 integrin</li></ul>				binding	GO:0005488						1
O14727	317	<ul><li>K->R at 160: No association with APAF-1. No binding to pro-caspase-9</li><li>M->L at 368: Activation of pro-caspase-9 independent of cytochrome c. Increased ability to induce apoptosis</li></ul>		apoptosis	GO:0006915	binding	GO:0005488			<li>P00073</li><li>P00074</li><li>P00075</li><li>P00076</li><li>P00070</li><li>P00071</li><li>P00072</li><li>Q6C9Q0</li><li>P00067</li><li>P00066</li><li>P00069</li><li>P68100</li><li>P00068</li><li>P00064</li><li>P00065</li><li>P00062</li><li>P00063</li><li>P00060</li><li>P00061</li><li>P67881</li><li>P67882</li><li>Q6WUX8</li><li>P15451</li><li>Q6QLW4</li><li>P19681</li><li>P00059</li><li>P00058</li><li>P68517</li><li>P00057</li><li>P68518</li><li>P00056</li><li>P00055</li><li>P68519</li><li>P62773</li><li>P62772</li><li>Q7YR71</li><li>Q4HVX7</li><li>P00008</li><li>P32556</li><li>P00007</li><li>P00004</li><li>P00003</li><li>P00002</li><li>Q640U4</li><li>Q753F4</li><li>P99999</li><li>P99998</li><li>Q52V08</li><li>Q52V09</li><li>P00079</li><li>P00078</li><li>P00077</li><li>O13393</li><li>P81459</li><li>P00030</li><li>Q5RFH4</li><li>P00032</li><li>P00031</li><li>Q52V10</li><li>O93863</li><li>P00027</li><li>P00028</li><li>P12831</li><li>P00029</li><li>P68096</li><li>P00022</li><li>P68097</li><li>P68098</li><li>P00024</li><li>P62896</li><li>P68099</li><li>P81280</li><li>P00025</li><li>P62895</li><li>P62894</li><li>Q6Q4H8</li><li>P18822</li><li>P00021</li><li>P00020</li><li>P00017</li><li>P38091</li><li>P00018</li><li>P00013</li><li>P00014</li><li>P00011</li><li>O07091</li><li>P00012</li><li>P53698</li><li>P00019</li><li>O22642</li><li>P25400</li><li>P22342</li><li>P00052</li><li>P00051</li><li>P00054</li><li>P00053</li><li>P00046</li><li>P00047</li><li>Q96VP3</li><li>P00048</li><li>P00049</li><li>Q41346</li><li>P19974</li><li>P56205</li><li>P21665</li><li>P00043</li><li>P00042</li><li>P00041</li><li>P00040</li><li>Q6IQM2</li><li>P00035</li><li>P00036</li><li>P00039</li><li>P29380</li><li>P00037</li><li>P00038</li><li>P59218</li>			1
O14744	10419	<ul><li>GR->AA at 367-368: Abolishes enzymatic activity</li></ul>											1
O14745	9368	<ul><li>F->R at 355: Loss of MSX binding</li><li>Missing at 358: Reduces MSX binding</li></ul>	<li>L->V at 110: in NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cyclic AMP : in dbSNP rsrs35910969, MIM: 612287</li><li>R->Q at 153: in NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cAMP by PTH and inhibits phosphate transport; dbSNP:rs41282065, MIM: 612287</li><li>E->K at 225: in NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cAMP by PTH and inhibits phosphate transport, MIM: 612287</li>	phosphate transport	GO:0006817	binding	GO:0005488			<li>P47329</li><li>Q9KGJ3</li><li>Q87A24</li><li>Q92N67</li><li>Q724K0</li><li>Q6GBY6</li><li>Q72IA8</li><li>P56077</li><li>Q5F9L4</li><li>Q63HI2</li><li>Q8E2I1</li><li>Q5FFA3</li><li>Q9KQ21</li><li>Q5ZS66</li><li>Q66AY1</li><li>P59490</li><li>Q89YZ2</li><li>Q6YP15</li><li>Q5WAD6</li><li>Q82HE5</li><li>Q6ADQ8</li><li>Q6AAC7</li><li>Q980V1</li><li>P65867</li><li>P65868</li><li>Q9GL67</li><li>P65865</li><li>P44682</li><li>P65866</li><li>P65869</li><li>Q83HD8</li><li>Q7NQT1</li><li>Q92F62</li><li>P65863</li><li>P57820</li><li>P65864</li><li>Q8K9V3</li><li>Q8YYK4</li><li>Q5N2J4</li><li>Q9HLW6</li><li>Q64X30</li><li>Q5PCR7</li><li>Q8DFF4</li><li>Q9AAV9</li><li>Q8E7Y8</li><li>Q73FF7</li><li>Q7N5A1</li><li>Q63XM0</li><li>Q6GJG9</li><li>Q8CXP8</li><li>O24006</li><li>Q7NN75</li><li>Q8Q0M4</li><li>Q6G0F9</li><li>Q8EHN5</li><li>Q81J96</li><li>Q8DJ45</li><li>Q6NI78</li><li>P78034</li><li>Q98PE2</li><li>Q5L3U7</li><li>Q6LNA9</li><li>O28185</li><li>Q8UD97</li><li>O83975</li><li>Q7WNY2</li><li>Q92H41</li><li>Q7VUH3</li><li>Q5NGZ6</li><li>Q8R757</li><li>Q86Y79</li><li>Q7VDT7</li><li>P0A282</li><li>P0A281</li><li>Q5P9A6</li><li>Q74FE6</li><li>Q5M222</li><li>Q9YBD6</li><li>Q65ZY7</li><li>Q5HRQ3</li><li>O84806</li><li>Q6MJR3</li><li>Q6MS28</li><li>Q6YR64</li><li>Q7MMZ2</li><li>Q8XHJ8</li><li>Q8CQU9</li><li>Q8U0N0</li><li>Q9F8Q3</li><li>Q88Z39</li><li>Q7U9I5</li><li>P37470</li><li>Q9XT35</li><li>Q5V1D3</li><li>Q6G2L1</li><li>Q5X1N7</li><li>Q5P722</li><li>Q8RIJ5</li><li>Q97CB4</li><li>O85235</li><li>Q7MXK9</li><li>Q5GTI9</li><li>Q9X1W1</li><li>Q5XEM3</li><li>Q9ZJC3</li><li>Q5HIH3</li><li>Q8P327</li><li>Q67JD0</li><li>Q6D557</li><li>Q81VY9</li><li>Q60363</li><li>Q8RLD7</li><li>Q7V4V4</li><li>Q888C8</li><li>Q8DWN5</li><li>Q65PG8</li><li>Q8PNT8</li><li>Q82TQ6</li><li>Q9CD49</li><li>Q8ZEY4</li><li>Q8KD05</li><li>Q73II8</li><li>Q7UKV0</li><li>Q5NL75</li><li>Q27IM2</li><li>Q741V9</li><li>Q62FC1</li><li>P38876</li><li>Q6F240</li><li>Q72BR1</li><li>P15743</li><li>Q8PC61</li><li>P04089</li><li>Q9PA78</li><li>Q9V108</li><li>P47714</li><li>Q5HWF9</li><li>Q8DRQ2</li><li>Q5FMA9</li><li>Q9PII7</li><li>Q5JDB8</li><li>Q7W179</li><li>Q899I4</li><li>P49607</li><li>Q6HPW6</li><li>Q8G5I6</li><li>Q65V47</li><li>Q9AEQ5</li><li>Q8ZYM4</li><li>Q8K8Z7</li><li>O27732</li><li>Q5YPZ6</li><li>Q88PX8</li><li>Q89DJ9</li><li>P01269</li><li>Q8TV04</li><li>Q5LV91</li><li>P01268</li><li>Q9RRW3</li><li>Q976I0</li><li>Q9PR67</li><li>Q60A14</li><li>P01270</li><li>Q97TD1</li><li>P61234</li><li>P61235</li><li>Q8Y2E3</li><li>Q5SHZ2</li><li>Q83AP0</li><li>Q9HVC3</li><li>Q57NM8</li><li>Q87RN9</li><li>Q68WD4</li><li>Q9K029</li><li>Q6AJL9</li><li>Q8D2K4</li><li>Q8F3Q2</li><li>Q8FQV6</li><li>Q9ZCV4</li><li>Q72RZ0</li><li>Q8BW00</li><li>Q83LE1</li><li>P61414</li><li>P57287</li><li>Q5FRT7</li><li>Q877G5</li><li>Q9Z6V6</li><li>Q5WTE7</li><li>Q839C0</li><li>Q59989</li><li>Q7V342</li><li>P0A7D1</li><li>P0A7D2</li><li>Q9CJI1</li><li>P0A7D3</li><li>Q6N1P9</li><li>O74806</li><li>Q83FR1</li><li>Q7VG29</li><li>Q9J5H2</li><li>Q6F8I7</li><li>O66677</li><li>Q6KHA3</li><li>Q7M7U8</li><li>Q74LA8</li><li>Q98HV6</li><li>Q5HC85</li><li>Q5M6L4</li><li>P52212</li><li>Q8EWQ8</li><li>Q7VMI1</li><li>Q8YAD1</li><li>Q9JV42</li><li>O74017</li><li>Q601M5</li><li>Q9K3T8</li><li>Q97E97</li><li>Q73Q01</li><li>Q5QV03</li><li>Q9A206</li><li>Q5GWR6</li><li>Q821W6</li><li>Q8TKX4</li>	Hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2) [MIM:612287]	<li>rs35910969</li><li>rs41282065</li>	3
O14746	7015	<ul><li>D->A at 712: Loss of telomerase activity</li><li>DD->AA at 868-869: Loss of telomerase activity</li><li>D->A at 868: Loss of telomerase activity</li><li>D->A at 869: Loss of telomerase activity</li></ul>	<li>A->T at 202: in AA susceptibility; severe and moderate</li><li>A->T at 279</li><li>H->Y at 412: in AA susceptibility; severe and moderate; dbSNP:rs34094720</li><li>Missing at 441</li><li>V->M at 694: in AA susceptibility; moderate</li><li>Y->C at 772: in AA susceptibility; moderate</li><li>R->H at 865: in idiopathic pulmonary fibrosis susceptibility</li><li>K->N at 902: in ADDKC, MIM: 127550</li><li>S->R at 948: in dbSNP:rs34062885, MIM: 127550</li><li>A->T at 1062: in dbSNP rsrs35719940, MIM: 127550</li><li>V->M at 1090: in AA susceptibility; severe, MIM: 127550</li>			telomerase activity	GO:0003720				Dyskeratosis congenita autosomal dominant (ADDKC) [MIM:127550]	<li>rs34062885</li><li>rs35719940</li><li>rs34094720</li>	3
O14757	1111	<ul><li>K->R at 38: Abolishes kinase activity</li><li>D->A at 130: Abolishes kinase activity</li><li>S->A at 317: Abrogates interaction with RAD51; when associated with A-345. Reduces phosphorylation and impairs activation by hydroxyurea and ionizing radiation. Abrogates nuclear retention upon checkpoint activation</li><li>S->E at 317: Enhances interaction with RAD51; when associated with E-345</li><li>F->A at 344: Impairs nuclear export</li><li>S->A at 345: Abrogates interaction with RAD51; when associated with A-317. Reduces phosphorylation and impairs activation by hydroxyurea and ionizing radiation. Impairs interaction with YWHAZ which is required for nuclear retention after checkpoint activation</li><li>S->E at 345: Enhances interaction with RAD51; when associated with E-317</li><li>M->A at 353: Impairs nuclear export</li><li>S->A at 357: No effect on phosphorylation induced by hydroxyurea</li><li>S->A at 366: No effect on phosphorylation induced by hydroxyurea</li><li>S->A at 468: No effect on phosphorylation induced by hydroxyurea</li></ul>	<li>R->Q at 156: in dbSNP:rs3731410</li><li>E->V at 223: in dbSNP rsrs35817404</li><li>V->M at 312: in dbSNP rsrs34097480</li><li>V->I at 471: in dbSNP:rs506504</li>	<li>phosphorylation</li><li>nuclear export</li>	<li>GO:0016310</li><li>GO:0051168</li>	kinase activity	GO:0016301			<li>Q5ZKC9</li><li>P94102</li><li>Q2KJ94</li><li>Q8MKI8</li><li>P37383</li><li>P70099</li><li>Q40134</li><li>P63103</li><li>P29361</li><li>O77507</li><li>Q99133</li><li>Q5R651</li><li>P25454</li><li>Q06609</li><li>P63104</li>		<li>rs34097480</li><li>rs35817404</li><li>rs3731410</li><li>rs506504</li>	3
O14773	1200	<ul><li>H->A at 236: No effect</li><li>D->A at 360: Inactive. Impaired processing</li><li>S->A at 475: Inactive. Impaired processing</li><li>D->A at 517: Inactive. Impaired processing</li></ul>	<li>S->L at 62: in dbSNP:rs2734715</li><li>G->R at 77: in LINCL, MIM: 204500</li><li>Q->R at 100: in dbSNP:rs1800746, MIM: 204500</li><li>R->Q at 127: in LINCL, MIM: 204500</li><li>S->P at 153: in LINCL, MIM: 204500</li><li>R->H at 175, MIM: 204500</li><li>R->C at 185: in dbSNP:rs34758634, MIM: 204500</li><li>R->C at 206: in LINCL; dbSNP:rs28940573, MIM: 204500</li><li>R->H at 206: in LINCL, MIM: 204500</li><li>V->M at 277: in LINCL, MIM: 204500</li><li>Q->P at 278: in LINCL, MIM: 204500</li><li>G->V at 284: in LINCL, MIM: 204500</li><li>N->S at 286: in LINCL, MIM: 204500</li><li>I->N at 287: in LINCL, MIM: 204500</li><li>E->K at 343: in LINCL, MIM: 204500</li><li>T->P at 353: in LINCL, MIM: 204500</li><li>C->R at 365: in LINCL, MIM: 204500</li><li>C->Y at 365: in LINCL, MIM: 204500</li><li>V->D at 385: in LINCL, MIM: 204500</li><li>G->E at 389: in LINCL, MIM: 204500</li><li>Q->H at 422: in LINCL, MIM: 204500</li><li>K->N at 428: in LINCL, MIM: 204500</li><li>R->H at 447: in LINCL, MIM: 204500</li><li>A->E at 454: in LINCL, MIM: 204500</li><li>G->R at 473: in LINCL, MIM: 204500</li><li>S->L at 475: in LINCL, MIM: 204500</li><ul><li>S->A at 475: Inactive. Impaired processing</li></ul><li>F->C at 481: in LINCL, MIM: 204500</li></ul>								Classical late-infantile neuronal ceroid lipofuscinosis (LINCL) [MIM:204500]	<li>rs2734715</li><li>rs34758634</li><li>rs1800746</li><li>rs28940573</li>	4
O14776	10915	<ul><li>YYY->AAA at 148-150: Reduces repression of transcription by 35%. Reduces repression of transcription by 63%; when associated with 446-AAA-448</li><li>YYY->AAA at 446-448: Loss of interaction with SF1. Reduces repression of transcription by 35%. Reduces repression of transcription by 63%; when associated with 148-AAA-150</li><li>FFY->AAA at 545-547: No effect</li></ul>		transcription	GO:0006350					<li>Q95L87</li><li>Q9GKL2</li><li>Q13285</li><li>Q12186</li><li>Q15637</li>			1
O14777	10403	<ul><li>E->K at 234: Abrogates binding to RB1</li></ul>	<li>S->A at 66: in dbSNP:rs16943490</li><li>E->D at 348: in dbSNP:rs12456560</li><li>A->P at 605: in dbSNP:rs1983346</li>			binding	GO:0005488			P06400		<li>rs16943490</li><li>rs12456560</li><li>rs1983346</li>	3
O14827	5924	<ul><li>S->A at 737: Loss of phosphorylation by CDK5</li></ul>	<li>R->H at 114: in a colorectal cancer sample; somatic mutation</li><li>D->N at 538: in a breast cancer sample; somatic mutation</li><li>L->W at 713: in dbSNP:rs16878472</li><li>D->E at 1216: in a breast cancer sample; somatic mutation</li>	phosphorylation	GO:0016310					<li>Q02399</li><li>Q00535</li>		rs16878472	3
O14920	3551	<ul><li>K->A at 44: Loss of kinase activity and no effect on binding to NIK</li><li>S->A at 177: Decrease of activity</li><li>S->E at 177: Full activation</li><li>S->A at 181: Decrease of activity</li><li>S->E at 181: Full activation</li></ul>	<li>A->S at 360: in breast cancer samples; infiltrating ductal carcinoma; somatic mutation</li><li>Q->R at 369: in dbSNP rsrs56411242</li><li>R->Q at 526: in dbSNP:rs2272736</li><li>R->W at 554: in dbSNP:rs17875749</li><li>A->T at 710: in dbSNP rsrs34309584</li><li>F->L at 734: in dbSNP rsrs56301637</li><li>A->T at 736: in dbSNP:rs17611716</li>			<li>kinase activity</li><li>binding</li>	<li>GO:0016301</li><li>GO:0005488</li>			<li>O95819</li><li>Q99558</li>		<li>rs34309584</li><li>rs56301637</li><li>rs17611716</li><li>rs56411242</li><li>rs17875749</li><li>rs2272736</li>	3
O14950	103910	<ul><li>TS->AA at 19-20: Shows a decrease in the number of actin filament bundles</li><li>TS->DD at 19-20: Shows a larger number of actin filament bundles</li></ul>	<li>E->G at 141: in dbSNP:rs14720</li>							<li>Q92192</li><li>Q92193</li><li>P53499</li><li>P26183</li><li>P53498</li><li>O13419</li><li>Q9P4D1</li><li>P48465</li><li>P53455</li><li>Q39596</li><li>Q39758</li><li>P26182</li><li>P80709</li><li>Q9UVX4</li><li>P78711</li><li>P53689</li><li>O17320</li><li>P30161</li><li>P17128</li><li>P45521</li><li>P81085</li><li>P20904</li><li>P45520</li><li>Q6TCF2</li><li>Q99023</li><li>Q75D00</li><li>P51775</li><li>P10365</li><li>P60011</li><li>P60010</li><li>Q8SWN8</li><li>O16808</li><li>P02577</li><li>P10989</li><li>P68555</li><li>Q05214</li><li>Q8X119</li><li>O65316</li><li>O65315</li><li>O65314</li><li>P53491</li><li>P91754</li><li>P13363</li><li>P11426</li><li>O81221</li><li>Q11212</li><li>P50138</li><li>P53477</li><li>P53476</li><li>P60009</li><li>P53502</li><li>Q2U7A3</li><li>P53500</li><li>Q9UVZ8</li><li>O00937</li><li>P14235</li><li>Q9UVF3</li><li>Q24733</li><li>P90689</li><li>P24902</li><li>O74258</li>		rs14720	3
O14964	9146	<ul><li>A->Q at 266: Strongly reduced ubiquitin-binding. Reduced degradation of ubiquitinated EGFR</li><li>A->Q at 268: Strongly reduced ubiquitin-binding. Reduced degradation of ubiquitinated EGFR</li></ul>	<li>T->S at 7</li><li>E->D at 400: in dbSNP:rs34868130</li>			binding	GO:0005488			<li>P69326</li><li>P08565</li><li>P69322</li><li>P69323</li><li>P69324</li><li>P69325</li><li>P68196</li><li>O46543</li><li>P68197</li><li>P13387</li><li>Q05550</li><li>P68198</li><li>P68199</li><li>P19848</li><li>P68195</li><li>P42739</li><li>Q867C2</li><li>P62991</li><li>P62990</li><li>P61863</li><li>P61864</li><li>P61862</li><li>Q867C4</li><li>Q867C3</li><li>P23398</li><li>P68204</li><li>P84589</li><li>P55245</li><li>Q865C5</li><li>P42740</li><li>P68201</li><li>Q8MKD1</li><li>P14792</li><li>P63049</li><li>P0C072</li><li>P63051</li><li>P69308</li><li>P69309</li><li>P20685</li><li>P15174</li><li>P62976</li><li>P62977</li><li>P62974</li><li>P62975</li><li>P62972</li><li>P13117</li><li>P14624</li><li>P62973</li><li>P46574</li><li>P69310</li><li>P69313</li><li>P69314</li><li>P69311</li><li>P69312</li><li>P08618</li><li>P69317</li><li>P69318</li><li>P0C014</li><li>P69315</li><li>P69316</li><li>P59263</li><li>P69319</li><li>P49634</li><li>P49635</li><li>P22589</li><li>Q9Y848</li><li>P62988</li><li>P62989</li><li>P23324</li><li>P69321</li><li>P00533</li><li>P69320</li><li>P59669</li>		rs34868130	3
O14979	9987	<ul><li>G->A at 404: Reduces significantly its nuclear localization</li></ul>		localization	GO:0051179								1
O14980	7514	<ul><li>S->A at 191: Does not abolish Rex-mediated mRNA export</li><li>V->E at 284: Does not abolish Rex-mediated mRNA export</li><li>D->G at 334: Does not abolish Rex-mediated mRNA export</li><li>I->L at 337: Does not abolish Rex-mediated mRNA export</li><li>T->A at 346: Does not abolish Rex-mediated mRNA export</li><li>V->I at 402: Does not abolish Rex-mediated mRNA export</li><li>P->T at 411: Strongly abolishes interaction with Rex and RANBP3, abolishes Rex-mediated mRNA export. Does not abolish interaction with RANBP3; when associated with S-414. Abolishes Rex multimerization; when associated with S-414</li><li>M->V at 412: Does not abolish interaction with Rex and RANBP3, and Rex-mediated mRNA export</li><li>F->S at 414: Strongly abolishes interaction with Rex and RANBP3, abolishes Rex-mediated mRNA export. Does not abolish interaction with RANBP3; when associated with T-411. Abolishes Rex multimerization; when associated with T-411</li><li>EEVLVVENDQGEVVR at 428-447: Abolishes Ran binding activity in absence of cargo and abolishes partially Ran binding activity in presence of cargo</li><li>VLVVENDQGEVVREF at 430-446: Partially restores Ran binding activity in presence of cargo</li><li>VLVV->DEDE at 430-433: Abolishes Ran binding activity both in absence or presence of cargo</li><li>Y->A at 454: Does not abolish Ran binding activity and nuclear export complex formation</li><li>R->I at 474: Strongly abolishes interaction with Rex and RANBP3, abolishes Rex-mediated mRNA export</li><li>H->Q at 481: Strongly abolishes interaction with Rex and RANBP3, abolishes Rex-mediated mRNA export</li><li>E->A at 513: Abolishes Ran binding activity and nuclear export complex formation. Abolishes Ran binding activity and nuclear export complex formation; when associated with A-553 and A-554</li><li>L->A at 525: Enhances Ran binding activity and does not abolish nuclear export complex formation. Does not abolish Ran binding activity and partially abolish nuclear export complex formation; when associated with A-561. Does not abolish Ran binding activity and partially abolish nuclear export complex formation; when associated with A-568 and A-572</li><li>Q->A at 550: Enhances Ran binding activity and does not abolish nuclear export complex formation; when associated with A-553 and A-590</li><li>R->A at 553: Enhances Ran binding activity and does not abolish nuclear export complex formation; when associated with A-550 and A-590. Abolishes Ran binding activity and nuclear export complex formation; when associated with A-513 and A-554</li><li>F->A at 554: Partially abolishes Ran binding activity and does not abolish nuclear export complex formation. Abolishes Ran binding activity and nuclear export complex formation; when associated with A-561. Abolishes Ran binding activity and nuclear export complex formation; when associated with A-553 and A-513</li><li>F->A at 561: Abolishes Ran binding activity and nuclear export complex formation. Abolishes Ran binding activity and nuclear export complex formation; when associated with A-554. Does not abolish Ran binding activity and partially abolish nuclear export complex formation; when associated with A-525</li><li>K->A at 568: Does not abolish Ran binding activity and partially abolish nuclear export complex formation; when associated with A-525 and A-572</li><li>F->A at 572: Does not abolish Ran binding activity and partially abolish nuclear export complex formation; when associated with A-525 and A-568</li><li>M->A at 583: Enhances Ran binding activity; when associated with A-590</li><li>K->A at 590: Enhances Ran binding activity and does not abolish nuclear export complex formation. Enhances Ran binding activity and does not abolish nuclear export complex formation; when associated with A-583. Enhances Ran binding activity and does not abolish nuclear export complex formation; when associated with A-550 and A-553</li></ul>		nuclear export	GO:0051168	binding	GO:0005488			<li>Q5R4Y2</li><li>Q9H6Z4</li><li>Q4R4T9</li>			1
O15031	23654	<ul><li>RQKR->AQKA at 1161-1164: Abolishes cleavage by proprotein convertases</li></ul>	<li>K->E at 318: in dbSNP:rs28379706</li>									rs28379706	3
O15055	8864	<ul><li>S->D at 662: Restores CSNK1E-dependent phosphorylation of variant G-662</li></ul>	<li>A->S at 5: in dbSNP:rs35572922</li><li>S->G at 662: in FASPS; reduced in vitro phosphorylation by CSNK1E, MIM: 604348</li><ul><li>S->D at 662: Restores CSNK1E-dependent phosphorylation of variant G-662</li></ul><li>V->I at 729: in dbSNP:rs4429421, MIM: 604348</li></ul><li>L->V at 823: in a breast cancer sample; somatic mutation, MIM: 604348</li></ul><li>V->I at 903: in dbSNP:rs35333999, MIM: 604348</li></ul><li>F->Y at 949: in dbSNP:rs35998480, MIM: 604348</li></ul><li>G->E at 1244: in dbSNP:rs934945, MIM: 604348</li></ul>	phosphorylation	GO:0016310					P49674	Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	<li>rs4429421</li><li>rs35572922</li><li>rs35998480</li><li>rs35333999</li><li>rs934945</li>	4
O15084	23243	<ul><li>SKTVS->AKTVA at 1040-1044: Marked decrease in phosphorylation. Increased PPP1C-binding. No effect on HNRPK-binding</li></ul>		phosphorylation	GO:0016310	binding	GO:0005488			<li>O19049</li><li>Q3T0D0</li><li>P61978</li>			1
O15105	4092	<ul><li>K->A at 64: Loss of acetylation, and of SMURF1-dependent degradation; when associated with A-70</li><li>K->A at 70: Loss of acetylation, and of SMURF1-dependent degradation; when associated with A-64</li><li>Missing at 207-211: Diminishes interaction with SMURF2</li><li>Y->A at 211: Diminishes interaction with SMURF2 and reduces inhibition of TGF-beta signaling</li><li>Missing at 409-426: 90% reduction in TGF-beta receptor binding</li></ul>				TGF-beta receptor binding	GO:0005160			<li>Q9HCE7</li><li>Q9HAU4</li>			1
O15111	1147	<ul><li>T->A at 23: Loss of phosphorylation and decrease of kinase activity</li><li>K->A at 44: Loss of kinase activity</li><li>K->M at 44: Loss of autophosphorylation</li><li>S->A at 176: Loss of phosphorylation and of activity</li><li>S->E at 176: Full activation</li><li>T->A at 179: No change in phosphorylation</li><li>S->A at 180: No change in phosphorylation</li></ul>	<li>S->C at 126: in dbSNP rsrs34427437</li><li>V->A at 155: in dbSNP rsrs2230803</li><li>I->V at 268: in dbSNP:rs2230804</li>	<li>phosphorylation</li><li>autophosphorylation</li>	<li>GO:0016310</li><li>GO:0046777</li>	kinase activity	GO:0016301					<li>rs34427437</li><li>rs2230804</li><li>rs2230803</li>	3
O15118	4864	<ul><li>C->S at 63: Loss of function</li><li>C->S at 97: Loss of function</li></ul>	<li>C->R at 63: in NPC1, MIM: 257220</li><ul><li>C->S at 63: Loss of function</li></ul><li>C->Y at 74: in NPC1, MIM: 257220</li></ul><li>Q->R at 92: in NPC1, MIM: 257220</li></ul><li>C->R at 113: in NPC1; partially mislocalized from late endocytic organelles diffusely to the cell periphery; localizes to the endoplasmic reticulum Rab7-negative endosomes and the cell surface; does not clears the lysosomal cholesterol accumulation in NPC1-deficient cells, MIM: 257220</li></ul><li>T->M at 137: in NPC1, MIM: 257220</li></ul><li>S->G at 151: in dbSNP:rs17855819, MIM: 257220</li></ul><li>P->S at 166: in NPC1, MIM: 257220</li></ul><li>C->G at 177: in NPC1; late infantile form, MIM: 257220</li></ul><li>C->Y at 177: in NPC1, MIM: 257220</li></ul><li>H->R at 215: common polymorphism in Japanese; dbSNP:rs1805081, MIM: 257220</li></ul><li>N->S at 222: in NPC1: in dbSNP rsrs55680026, MIM: 257220</li></ul><li>V->G at 231: in NPC1, MIM: 257220</li></ul><li>P->S at 237: in NPC1; late infantile form, MIM: 257220</li></ul><li>D->H at 242: in NPC1, MIM: 257220</li></ul><li>D->N at 242: in NPC1, MIM: 257220</li></ul><li>C->Y at 247: in NPC1, MIM: 257220</li></ul><li>G->V at 248: in NPC1, MIM: 257220</li></ul><li>M->R at 272: in NPC1, MIM: 257220</li></ul><li>W->S at 273: colocalizes with the wild-type protein with Rab7-positive late endosomes; clears the lysosomal cholesterol accumulation in NPC1-deficient cells, MIM: 257220</li></ul><li>G->D at 333, MIM: 257220</li></ul><li>R->W at 372: in NPC1, MIM: 257220</li></ul><li>V->A at 378: in NPC1, MIM: 257220</li></ul><li>L->F at 380: in NPC1, MIM: 257220</li></ul><li>W->C at 381, MIM: 257220</li></ul><li>A->P at 388: in NPC1, MIM: 257220</li></ul><li>R->C at 389: in NPC1, MIM: 257220</li></ul><li>P->T at 401: in NPC1, MIM: 257220</li></ul><li>R->P at 404: in NPC1, MIM: 257220</li></ul><li>R->Q at 404: in NPC1, MIM: 257220</li></ul><li>R->W at 404: in NPC1, MIM: 257220</li></ul><li>P->L at 433: in NPC1, MIM: 257220</li></ul><li>P->L at 434: in NPC1, MIM: 257220</li></ul><li>P->S at 434, MIM: 257220</li></ul><li>E->K at 451: in NPC1, MIM: 257220</li></ul><li>L->P at 472, MIM: 257220</li></ul><li>S->P at 473: in NPC1; late infantile form, MIM: 257220</li></ul><li>P->L at 474: in NPC1, MIM: 257220</li></ul><li>C->Y at 479: in NPC1, MIM: 257220</li></ul><li>Y->S at 509: in NPC1, MIM: 257220</li></ul><li>H->P at 510: in NPC1; late infantile form, MIM: 257220</li></ul><li>T->M at 511: in dbSNP:rs13381670, MIM: 257220</li></ul><li>H->R at 512: in NPC1, MIM: 257220</li></ul><li>R->Q at 518: in NPC1; late infantile form; Common in Japanese, MIM: 257220</li></ul><li>R->W at 518: in NPC1, MIM: 257220</li></ul><li>A->S at 521: in NPC1, MIM: 257220</li></ul><li>F->L at 537: in NPC1, MIM: 257220</li></ul><li>P->L at 543: in NPC1, MIM: 257220</li></ul><li>T->K at 574: in NPC1, MIM: 257220</li></ul><li>K->R at 576: in NPC1, MIM: 257220</li></ul><li>A->V at 605: in NPC1, MIM: 257220</li></ul><li>E->D at 612: in NPC1, MIM: 257220</li></ul><li>R->C at 615: in NPC1, MIM: 257220</li></ul><li>R->L at 615: in NPC1, MIM: 257220</li></ul><li>M->R at 631: in NPC1, MIM: 257220</li></ul><li>G->R at 640: in NPC1, MIM: 257220</li></ul><li>M->I at 642: in dbSNP:rs1788799, MIM: 257220</li></ul><li>S->W at 652: in NPC1, MIM: 257220</li></ul><li>G->S at 660: in NPC1, MIM: 257220</li></ul><li>V->M at 664: in NPC1, MIM: 257220</li></ul><li>S->N at 666: in NPC1, MIM: 257220</li></ul><li>C->W at 670: in NPC1, MIM: 257220</li></ul><li>G->V at 673: in NPC1, MIM: 257220</li></ul><li>L->F at 684: in NPC1, MIM: 257220</li></ul><li>P->L at 691: in NPC1, MIM: 257220</li></ul><li>L->V at 695: in NPC1, MIM: 257220</li></ul><li>D->N at 700: in NPC1, MIM: 257220</li></ul><li>F->S at 703: in NPC1, MIM: 257220</li></ul><li>L->P at 724: in NPC1, MIM: 257220</li></ul><li>V->F at 727: in NPC1, MIM: 257220</li></ul><li>S->I at 734: in NPC1, MIM: 257220</li></ul><li>E->K at 742: in NPC1, MIM: 257220</li></ul><li>A->E at 745: in NPC1, MIM: 257220</li></ul><li>M->K at 754: in NPC1, MIM: 257220</li></ul><li>V->A at 757, MIM: 257220</li></ul><li>F->L at 763: in NPC1, MIM: 257220</li></ul><li>A->V at 767: in NPC1, MIM: 257220</li></ul><li>Q->P at 775: in NPC1, MIM: 257220</li></ul><li>R->C at 789: in NPC1, MIM: 257220</li></ul><li>R->G at 789: in NPC1, MIM: 257220</li></ul><li>Y->C at 825: in NPC1, MIM: 257220</li></ul><li>S->I at 849: in NPC1, MIM: 257220</li></ul><li>I->V at 858: common polymorphism in Japanese; dbSNP:rs1805082, MIM: 257220</li></ul><li>Q->L at 862: in NPC1, MIM: 257220</li></ul><li>S->L at 865: in NPC1, MIM: 257220</li></ul><li>Y->C at 871: in NPC1, MIM: 257220</li></ul><li>V->A at 873, MIM: 257220</li></ul><li>D->V at 874: in NPC1, MIM: 257220</li></ul><li>P->S at 888: in NPC1, MIM: 257220</li></ul><li>V->M at 889: in NPC1; adult form, MIM: 257220</li></ul><li>Y->C at 890: in NPC1, MIM: 257220</li></ul><li>Y->D at 899: in NPC1, MIM: 257220</li></ul><li>G->S at 910: in NPC1: in dbSNP rsrs34302553, MIM: 257220</li></ul><li>D->Y at 917: in NPC1, MIM: 257220</li></ul><li>A->T at 926: in NPC1, MIM: 257220</li></ul><li>A->V at 927: in NPC1, MIM: 257220</li></ul><li>Q->P at 928: in NPC1; dbSNP:rs28940897, MIM: 257220</li></ul><li>L->P at 929: in NPC1, MIM: 257220</li></ul><li>R->Q at 934: in NPC1, MIM: 257220</li></ul><li>S->L at 940: in NPC1, MIM: 257220</li></ul><li>W->C at 942: in NPC1, MIM: 257220</li></ul><li>I->M at 943: in NPC1, MIM: 257220</li></ul><li>D->N at 944: in NPC1, MIM: 257220</li></ul><li>D->N at 945: in NPC1, MIM: 257220</li></ul><li>D->H at 948: in NPC1, MIM: 257220</li></ul><li>D->N at 948: in NPC1, MIM: 257220</li></ul><li>D->Y at 948: in NPC1, MIM: 257220</li></ul><li>V->M at 950: in NPC1; adult form, MIM: 257220</li></ul><li>S->L at 954: in NPC1, MIM: 257220</li></ul><li>C->Y at 956: in NPC1; late infantile form, MIM: 257220</li></ul><li>R->L at 958: in NPC1, MIM: 257220</li></ul><li>R->Q at 958: in NPC1, MIM: 257220</li></ul><li>V->E at 959: in NPC1, MIM: 257220</li></ul><li>NITDQF->S at 961-966: in NPC1, MIM: 257220</li></ul><li>N->S at 961: in NPC1; dbSNP:rs34084984, MIM: 257220</li></ul><li>N->S at 968: in NPC1, MIM: 257220</li></ul><li>V->G at 971, MIM: 257220</li></ul><li>C->R at 976: in NPC1, MIM: 257220</li></ul><li>R->C at 978: in NPC1; dbSNP:rs28942108, MIM: 257220</li></ul><li>G->S at 986: in NPC1, MIM: 257220</li></ul><li>G->A at 992: in NPC1, MIM: 257220</li></ul><li>G->R at 992: in NPC1, MIM: 257220</li></ul><li>G->W at 992: in NPD and NPC1, MIM: 257220</li></ul><li>M->R at 996: in NPC1, MIM: 257220</li></ul><li>S->L at 1004: in NPC1, MIM: 257220</li></ul><li>P->A at 1007: in NPC1, MIM: 257220</li></ul><li>G->D at 1012: in NPC1, MIM: 257220</li></ul><li>G->V at 1015: in NPC1, MIM: 257220</li></ul><li>H->R at 1016: in NPC1, MIM: 257220</li></ul><li>V->G at 1023: in NPC1, MIM: 257220</li></ul><li>G->R at 1034: in NPC1, MIM: 257220</li></ul><li>A->V at 1035: in NPC1: in dbSNP rsrs28942107, MIM: 257220</li></ul><li>T->K at 1036: in NPC1, MIM: 257220</li></ul><li>T->M at 1036: in NPC1: in dbSNP rsrs28942104, MIM: 257220</li></ul><li>A->V at 1049, MIM: 257220</li></ul><li>A->T at 1054: in NPC1, MIM: 257220</li></ul><li>R->Q at 1059: in NPC1, MIM: 257220</li></ul><li>I->T at 1061: in NPC1; late infantile form, MIM: 257220</li></ul><li>A->V at 1062: in NPC1, MIM: 257220</li></ul><li>T->N at 1066: in NPC1, MIM: 257220</li></ul><li>F->L at 1087: in NPC1, MIM: 257220</li></ul><li>Y->C at 1088: in NPC1; juvenile form; dbSNP:rs28942106, MIM: 257220</li></ul><li>E->K at 1089: in NPC1, MIM: 257220</li></ul><li>I->T at 1094: in NPC1, MIM: 257220</li></ul><li>D->N at 1097: in NPC1, MIM: 257220</li></ul><li>N->I at 1137: in NPC1, MIM: 257220</li></ul><li>G->V at 1140: in NPC1, MIM: 257220</li></ul><li>M->T at 1142: in NPC1, MIM: 257220</li></ul><li>N->K at 1150: in NPC1, MIM: 257220</li></ul><li>N->I at 1156: in NPC1; dbSNP:rs28942105, MIM: 257220</li></ul><li>N->S at 1156: in NPC1: in dbSNP rsrs28942105, MIM: 257220</li></ul><li>V->M at 1165: in NPC1, MIM: 257220</li></ul><li>F->L at 1167: in NPC1, MIM: 257220</li></ul><li>C->Y at 1168: in NPC1, MIM: 257220</li></ul><li>A->V at 1174: in NPC1, MIM: 257220</li></ul><li>R->H at 1186: in NPC1, MIM: 257220</li></ul><li>E->G at 1189: in NPC1, MIM: 257220</li></ul><li>T->K at 1205: in NPC1, MIM: 257220</li></ul><li>T->R at 1205: in NPC1, MIM: 257220</li></ul><li>V->L at 1212: in NPC1, MIM: 257220</li></ul><li>L->F at 1213: in NPC1; juvenile form, MIM: 257220</li></ul><li>L->V at 1213: in NPC1, MIM: 257220</li></ul><li>A->V at 1216: in NPC1, MIM: 257220</li></ul><li>I->T at 1220, MIM: 257220</li></ul><li>F->L at 1224: in NPC1, MIM: 257220</li></ul><li>G->E at 1236: in NPC1, MIM: 257220</li></ul><li>G->R at 1240: in NPC1, MIM: 257220</li></ul><li>S->G at 1249: in NPC1, MIM: 257220</li></ul><li>R->Q at 1266: common polymorphism in Japanese; dbSNP:rs1805084, MIM: 257220</li></ul>					<li>late endosomes</li><li>endoplasmic reticulum</li><li>cell surface</li><li>endosomes</li>	<li>GO:0005770</li><li>GO:0005783</li><li>GO:0009928,GO:0009986</li><li>GO:0005768</li>	<li>P51150</li><li>P36411</li><li>O15118</li><li>P09527</li><li>P56941</li>	<li>Niemann-Pick disease type C1 (NPC1) [MIM:257220]</li><li>Niemann-Pick disease type D (NPD) [MIM:257220]</li>	<li>rs28942104</li><li>rs28942106</li><li>rs28942105</li><li>rs1805081</li><li>rs1805082</li><li>rs1805084</li><li>rs17855819</li><li>rs28942108</li><li>rs28942107</li><li>rs1788799</li><li>rs55680026</li><li>rs28940897</li><li>rs34302553</li><li>rs13381670</li><li>rs34084984</li>	4
O15151	4194	<ul><li>C->G at 437: Fails to interact with MDM2</li></ul>	<li>I->T at 175: in dbSNP:rs4252716</li><li>T->I at 406: in dbSNP:rs4252741</li>							<li>Q60524</li><li>Q00987</li><li>P56950</li><li>Q7YRZ8</li><li>P56951</li>		<li>rs4252716</li><li>rs4252741</li>	3
O15162	5359	<ul><li>Y->F at 69: Decrease in phosphorylation</li><li>Y->F at 74: Decrease in phosphorylation</li><li>T->A at 161: No induction by PKC</li><li>D->A at 273: Reduces the Ca(2+)-dependent phospholipid scrambling</li><li>D->A at 275: Complete inactivation of the Ca(2+)-dependent phospholipid scrambling</li><li>F->A at 277: Reduces the Ca(2+)-dependent phospholipid scrambling</li><li>I->A at 279: Reduces the Ca(2+)-dependent phospholipid scrambling</li><li>F->A at 281: Complete inactivation of the Ca(2+)-dependent phospholipid scrambling</li><li>D->A at 284: Reduces the Ca(2+)-dependent phospholipid scrambling</li></ul>	<li>H->Y at 262: in dbSNP:rs343320</li>	<li>phosphorylation</li><li>phospholipid scrambling</li>	<li>GO:0016310</li><li>GO:0017121</li>					<li>P13678</li><li>P05130</li><li>P13677</li><li>P34722</li>		rs343320	3
O15245	6580	<ul><li>G->A at 465: No changes in the MPP uptake</li></ul>	<li>S->F at 14: exclusively found in the African American population; increase of the MPP uptake; when associated with V-408; dbSNP:rs34447885</li><li>F->L at 41: in dbSNP:rs2297373</li><li>R->C at 61: reduction of the MPP uptake. Reduction of the MPP uptake; when associated with V-408; dbSNP:rs12208357</li><li>L->F at 85: no changes in the MPP uptake; when associated with V-408; dbSNP:rs35546288</li><li>C->R at 88: no MPP uptake. Reduction of the serotonin uptake: in dbSNP rsrs55918055</li><li>F->L at 160: no changes in both TEA and MPP uptake. No MPP uptake; when associated with S-401. Largely localized in the plasma membrane; dbSNP:rs683369</li><li>S->L at 189: no changes in the MPP uptake. No changes in the MPP uptake; when associated with V-408: in dbSNP rsrs34104736</li><li>G->V at 220: no MPP uptake. Reduction of the MPP uptake; when associated with V-408: in dbSNP rsrs36103319</li><li>P->L at 283: only found in Japanese population. No uptake of both TEA and MPP. Largely localized in the plasma membrane: in dbSNP rsrs4646277</li><li>R->G at 287: only found in Japanese population. No uptake of both TEA and MPP. Largely localized in the plasma membrane: in dbSNP rsrs4646278</li><li>P->L at 341: reduction of the MPP uptake. Reduction of the MPP uptake; when associated with V-408. Partly reduction of TEA uptake. Largely localized in the plasma membrane; dbSNP:rs2282143</li><li>R->H at 342: no changes in the MPP uptake; when associated with V-408; dbSNP:rs34205214</li><li>G->S at 401: no MPP uptake. Reduction of the serotonin uptake. No MPP uptake; when associated with L-160; dbSNP:rs34130495</li><li>M->V at 408: no changes in the MPP uptake. No changes in the MPP uptake; when associated with F-14. No changes in the MPP uptake; when associated with F-85. No changes in the MPP uptake; when associated with L-189. No changes in the MPP uptake; when associated with His-342. No changes in the MPP uptake; when associated with M-420 del. No changes in the MPP uptake; when associated with I-440. No changes in the MPP uptake; when associated with I-461. No changes in the MPP uptake; when associated with M-488. Reduction of the MPP uptake; when associated with C-61. No MPP uptake; when associated with V-220. Reduction of the MPP uptake; when associated with L-341. No MPP uptake; when associated with S-401. No MPP uptake; when associated with R-465; dbSNP:rs628031</li><li>Missing  at 420: no changes in the MPP uptake. No changes in the MPP uptake; when associated with V-408: in dbSNP rsrs34305973,rs35167514,rs35191146</li><li>M->I at 440: no changes in the MPP uptake. No changes in the MPP uptake; when associated with V-408: in dbSNP rsrs35956182</li><li>V->I at 461: no changes in the MPP uptake; when associated with V-408; dbSNP:rs34295611</li><li>G->R at 465: reduction of the localization to the basolateral membrane. No MPP uptake; when associated with V-408; dbSNP:rs34059508</li><ul><li>G->A at 465: No changes in the MPP uptake</li></ul><li>R->M at 488: no changes in the MPP uptake; when associated with V-408; dbSNP:rs35270274</li></ul>	localization	GO:0051179			<li>membrane</li><li>plasma membrane</li>	<li>GO:0016020</li><li>GO:0005886</li>	<li>Q6WEB5</li><li>P10522</li><li>P37301</li><li>P27573</li><li>P06907</li><li>P29677</li><li>P25189</li><li>P20938</li>		<li>rs34295611</li><li>rs12208357</li><li>rs683369</li><li>rs34104736</li><li>rs34205214</li><li>rs34059508</li><li>rs34305973</li><li>rs4646278</li><li>rs35956182</li><li>rs4646277</li><li>rs2297373</li><li>rs55918055</li><li>rs35546288</li><li>rs36103319</li><li>rs35167514</li><li>rs35191146</li><li>rs2282143</li><li>rs34447885</li><li>rs34130495</li><li>rs628031</li><li>rs35270274</li>	4
O15264	5603	<ul><li>T->A at 180: Loss of kinase activity</li><li>Y->A at 182: Loss of kinase activity</li></ul>	<li>S->L at 41: in dbSNP rsrs55776345</li><li>A->V at 282: in dbSNP rsrs55990045</li><li>A->T at 300: in dbSNP rsrs41270090</li>			kinase activity	GO:0016301					<li>rs55776345</li><li>rs41270090</li><li>rs55990045</li>	3
O15297	8493	<ul><li>D->A at 314: Abrogates phosphatase activity</li></ul>								<li>Q7M7K5</li><li>Q5X1E5</li><li>Q7MAZ9</li><li>Q8XBL4</li><li>Q7MBF4</li><li>Q5P3T0</li><li>Q88A53</li><li>Q5PC82</li><li>Q8Z3M9</li><li>Q821A6</li><li>Q5ZRX9</li><li>Q87SK9</li><li>Q9JZ88</li><li>Q9CP21</li><li>Q82U82</li><li>Q9I5V3</li><li>Q5F8K9</li><li>Q63YC3</li><li>Q8Y395</li><li>Q6LV05</li><li>Q8ZLY4</li><li>Q6FA38</li><li>Q9PDL7</li><li>Q62EU1</li><li>Q9JUB2</li><li>Q5WT58</li><li>Q665U9</li><li>Q57JQ5</li><li>Q9KPC6</li><li>Q8CWL6</li><li>Q8P5D4</li><li>Q8PPG9</li><li>P06961</li><li>P45269</li><li>Q88QU2</li><li>Q9L7A3</li><li>Q6D160</li><li>Q87DS9</li><li>Q60CQ4</li><li>Q8ZI64</li><li>Q65Q41</li><li>Q5E2K7</li><li>Q8CXX6</li>			1
O15304	10572	<ul><li>Y->F at 34: Abolishes phosphorylation and apoptotic activity</li><li>Y->F at 53: No effect on phosphorylation or apoptotic activity</li></ul>		phosphorylation	GO:0016310								1
O15350	7161	<ul><li>Y->A at 487: Loss of interaction with WWOX</li><li>K->R at 627: Strongly diminishes sumoylation but does not affect transcriptional activity</li></ul>		sumoylation	GO:0016925					<li>Q5F389</li><li>Q5R9W5</li><li>Q9NZC7</li><li>Q9VLU5</li>			1
O15357	3636	<ul><li>R->G at 47: Abolishes interaction with p130Cas/BCAR1 and its ability to induce increased adhesion. Abolishes phosphorylation upon FCGR2A clustering</li><li>D->A at 607: Abolishes enzyme activity but not phosphorylation upon FCGR2A clustering</li><li>T->A at 958: Reduces PDGF-stimulated tyrosine phosphorylation and association with SHC1</li><li>YY->FF at 986-987: Inducer a strong reduction of phosphorylation upon re-plating on collagen I</li></ul>	<li>L->I at 632: associated with susceptibility to NIDDM</li><li>V->M at 721</li><li>N->S at 982: associated with susceptibility to NIDDM</li><li>A->G at 1083: in dbSNP:rs11548491</li><li>G->A at 1114: in dbSNP:rs1049472</li>	phosphorylation	GO:0016310			collagen	GO:0005581	<li>P56945</li><li>P12318</li><li>Q8SPV8</li><li>P29353</li>		<li>rs11548491</li><li>rs1049472</li>	3
O15382	587	<ul><li>C->A at 342: Reduces activity about 6-fold</li><li>C->A at 345: Slight reduction of activity</li></ul>	<li>T->R at 186: in dbSNP:rs11548193</li>									rs11548193	3
O15392	332	<ul><li>T->A at 34: Loss of HBXIP binding</li><li>T->E at 34: Higher affinity for HBXIP binding</li><li>C->A at 84: Loss of cytoprotection</li></ul>	<li>E->K at 129: in dbSNP:rs2071214</li>			binding	GO:0005488			O43504		rs2071214	3
O15393	7113	<ul><li>R->Q at 255: Loss of cleavage</li><li>S->A at 441: Loss of activity</li></ul>	<li>V->M at 160: in dbSNP:rs12329760</li><li>S->C at 254</li><li>E->Q at 329</li><li>K->N at 449: in dbSNP:rs1056602</li><li>D->N at 491</li>									<li>rs1056602</li><li>rs12329760</li>	3
O15455	7098	<ul><li>C->A at 95: Reduced response to ds-RNA</li><li>C->A at 122: Reduced response to ds-RNA</li><li>N->G at 196: Reduced expression levels; when associated with R-247</li><li>N->R at 247: Reduced response to ds-RNA. Reduced expression levels; when associated with G-196</li><li>H->A at 539: No effect</li><li>H->E at 539: Loss of RNA binding. Constitutive activation of NF-kappa-B</li><li>N->A at 541: Loss of RNA binding. Abolishes activation of NF-kappa-B</li><li>Y->F at 759: Reduced activation of NF-kappa-B in response to ds-RNA. Reduced induction of IL-8 in response to ds-RNA</li></ul>	<li>N->I at 284: in dbSNP:rs5743316</li><li>Y->D at 307: in dbSNP:rs5743317</li><li>L->F at 412: confers protection against progression to geographic atrophy in age-related macular degeneration; dbSNP:rs3775291</li><li>P->S at 554: in HSE; TLR3-deficient HSE, MIM: 603029</li><li>S->T at 737: in dbSNP:rs5743318, MIM: 603029</li>			RNA binding	GO:0003723			<li>Q5TJ59</li><li>Q9XSX5</li><li>P26894</li><li>P36925</li><li>O62812</li><li>P79255</li><li>P08317</li><li>P67813</li><li>Q102R3</li><li>Q0PV50</li><li>P67814</li><li>P49113</li><li>P19874</li><li>Q7YRB5</li><li>P46653</li><li>O15455</li><li>P10145</li><li>P41324</li>	TLR3-deficient herpes simplex encephalitis (HSE) [MIM:603029]	<li>rs5743318</li><li>rs3775291</li><li>rs5743316</li><li>rs5743317</li>	3
O15488	8908	<ul><li>Y->F at 228: Loss of activity</li><li>Y->F at 230: No loss of activity</li></ul>	<li>H->Y at 7: in dbSNP:rs11797037</li><li>A->V at 270: in dbSNP:rs2306734</li><li>H->R at 313: in dbSNP:rs2306735</li><li>R->C at 373: in dbSNP:rs17330993</li>									<li>rs11797037</li><li>rs2306735</li><li>rs2306734</li><li>rs17330993</li>	3
O15492	6004	<ul><li>Y->F at 168: 30% decrease in GAP activity</li><li>Y->F at 177: No effect on GAP activity</li></ul>	<li>R->H at 137: in dbSNP:rs1144566</li>							<li>P20936</li><li>Q92263</li><li>P09851</li><li>Q92211</li><li>Q5PEA9</li><li>P74873</li><li>P74851</li><li>P50904</li>		rs1144566	3
O15498	10652	<ul><li>F->E at 42: Increases palmitoylation. Targeted to Golgi membranes. Targeted to Golgi and cytosol; when associated with S-194. Targeted to cytosol; when associated with S-195</li><li>C->S at 194: Decreases palmitoylation by 55%. Prevents palmitoylation; when associated with S-195. Targeted to Golgi and cytosol; when associated with E-42</li><li>C->S at 195: Prevents farnesylation. Targeted to cytosol; when associated with E-42. Decreases palmitoylation by 13%. Prevents palmitoylation; when associated with S-194</li></ul>						<li>Golgi membranes</li><li>cytosol</li>	<li>GO:0000139</li><li>GO:0005829</li>				1
O15503	3638	<ul><li>K->R at 156: Loss of ubiquitination and degradation</li><li>K->R at 158: Loss of ubiquitination and degradation</li><li>D->A at 205: Loss of ability to suppress the cleavage of SREBP2 and to accelerate the degradation of HMGCR</li></ul>	<li>A->T at 27: in dbSNP:rs1129825</li>							<li>Q60429</li><li>P16393</li><li>P00347</li><li>Q5R6N3</li><li>Q1W675</li><li>Q12772</li><li>P04035</li><li>Q29512</li><li>P09610</li>		rs1129825	3
O15516	9575	<ul><li>E->K at 116: 3-fold increase in PER1 reporter activity by CLOCK-ARNTL. Some reduction of CRY1 inhibition of CLOCK-ARNTL transcriptional activity; when associated with K-367 and L-601</li><li>G->E at 332: 3-fold increase in PER1 reporter activity by CLOCK-ARNTL. Some reduction of CRY1 inhibition of CLOCK-ARNTL transcriptional activity; when associated with L-840</li><li>H->Y at 360: 3-fold increase in PER1 reporter activity by CLOCK-ARNTL. Some reduction of CRY1 inhibition of CLOCK-ARNTL transcriptional activity</li><li>E->K at 367: 3-fold increase in PER1 reporter activity by CLOCK-ARNTL. Some reduction of CRY1 inhibition CLOCK-ARNTL transcriptional activity; when associated with E-116 and L-601</li><li>V->L at 601: 3-fold increase in PER1 reporter activity by CLOCK-ARNTL. Some reduction of CRY1 inhibition of CLOCK-ARNTL transcriptional activity; when associated with K-116 and K-367</li><li>P->L at 840: 3-fold increase in PER1 reporter activity by CLOCK-ARNTL. Some reduction of CRY1 inhibition of CLOCK-ARNTL transcriptional activity; when associated with E-332</li></ul>	<li>S->C at 208: in dbSNP:rs34897046</li><li>E->K at 380: in dbSNP:rs1056478</li><li>L->I at 395: in dbSNP:rs6855837</li><li>H->R at 542: in dbSNP:rs3762836</li>							<li>Q96506</li><li>Q5R4T2</li><li>Q70AD6</li><li>Q9I8T7</li><li>Q00925</li><li>O61735</li><li>Q8QG61</li><li>Q5IZC5</li><li>P27069</li><li>Q43125</li><li>O04005</li><li>Q8K3T3</li><li>O00327</li><li>Q6YGZ5</li><li>Q6YGZ4</li><li>P06367</li><li>Q5RAK8</li><li>Q16526</li><li>O88529</li><li>P52572</li><li>Q6ZZY0</li><li>O15516</li><li>O15534</li><li>Q8WP19</li><li>Q8QGQ6</li><li>P25625</li><li>P46295</li>		<li>rs3762836</li><li>rs34897046</li><li>rs6855837</li><li>rs1056478</li>	3
O15519	8837	<ul><li>Y->F at 360: Decreases apoptosis-inducing activity. Reduces interaction with caspase-3 and proteolytic processing</li><li>D->N,A at 376: Abolishes proteolytic processing</li></ul>	<li>L->I at 203: in dbSNP:rs13424615</li>	apoptosis	GO:0006915							rs13424615	3
O15527	4968	<ul><li>K->Q at 249: Loss of activity</li><li>D->E,Q at 268: No effect on activity</li><li>D->N at 268: Decreases activity about 65-fold</li></ul>	<li>G->E at 12: in kidney cancer; no effect on activity. Abolishes mitochondrial localization</li><li>R->Q at 46: in kidney cancer; diminished activity</li><li>A->S at 85: in lung cancer; dbSNP:rs17050550</li><li>R->Q at 131: in lung cancer; loss of activity</li><li>R->H at 154: in gastric cancer; No effect on base-excision activity. Alters substrate specificity and strongly increases mutagenic mis-repair; dbSNP:rs56053615</li><li>R->Q at 229: in dbSNP:rs1805373</li><li>S->T at 232: in kidney cancer</li><li>A->V at 288: in dbSNP:rs3219012</li><li>S->T at 320: in dbSNP:rs1801128</li><li>D->N at 322: in dbSNP:rs3219014</li><li>S->C at 326: common polymorphism in the Japanese population; dbSNP:rs1052133</li>	localization	GO:0051179							<li>rs3219014</li><li>rs1801128</li><li>rs3219012</li><li>rs1052133</li><li>rs1805373</li><li>rs56053615</li><li>rs17050550</li>	3
O15529		<ul><li>W->R at 174: Restores responses to propionate</li></ul>	<li>C->R at 45: in dbSNP:rs423385</li><li>V->L at 227: in dbSNP:rs403989</li><li>V->A at 256: in dbSNP:rs424715</li>									<li>rs403989</li><li>rs423385</li><li>rs424715</li>	3
O15530	5170	<ul><li>Y->F at 9: Slight reduction in pervanadate-stimulated tyrosine phosphorylation</li><li>S->A at 25: No effect</li><li>S->A at 241: No activation</li><li>A->V at 277: 3-fold increase in kinase activity</li><li>Y->F at 373: Reduction in basal activity</li><li>Y->F at 376: Reduction in basal activity</li><li>S->A at 393: No effect</li><li>S->A at 396: No effect</li><li>S->A at 410: No effect</li><li>R->A at 474: No PDGF-dependent translocation to the membrane</li></ul>		phosphorylation	GO:0016310	kinase activity	GO:0016301	membrane	GO:0016020				1
O15550	7403	<ul><li>H->A at 1146: Abolishes histone demethylase activity</li></ul>	<li>A->T at 30: in dbSNP:rs6529</li><li>Q->H at 497: in dbSNP:rs6530</li><li>T->A at 581: in dbSNP:rs34922269</li><li>T->K at 726: in dbSNP:rs2230018</li><li>L->R at 1106: in a colorectal cancer sample; somatic mutation</li>							Q9UBB5		<li>rs6530</li><li>rs6529</li><li>rs2230018</li><li>rs34922269</li>	3
O15554	3783	<ul><li>T->S at 250: Loss of sensitivity to triarylmethanes</li><li>V->A at 275: Loss of sensitivity to triarylmethanes</li></ul>											1
O43148	8731	<ul><li>KKRK->AAAA at 80-83: Does not abolish nuclear localization. Abolishes nuclear localization; when associated with 103-AAAAA-107 and I-127</li><li>KKRKR->AAAAA at 103-107: Does not abolish nuclear localization. Abolishes nuclear localization; when associated with 80-AAAA-83 and I-127</li><li>R->I at 127: Does not abolish nuclear localization. Abolishes nuclear localization; when associated with 80-AAAA-83 and 103-AAAAA-107</li><li>D->A at 203: Loss of activity</li><li>R->A at 239: Loss of activity</li><li>Y->A at 289: Loss of activity</li><li>F->A at 291: Strongly impairs enzyme activity</li><li>F->A at 354: Loss of activity</li></ul>		localization	GO:0051179								1
O43150	8853	<ul><li>C->A at 436: Loss of Arf-GAP activity</li></ul>	<li>E->D at 748: in dbSNP:rs2715860</li>							<li>P14112</li><li>P20936</li><li>Q92263</li><li>P09851</li><li>Q92211</li><li>Q5PEA9</li><li>P74873</li><li>P74851</li><li>P50904</li>		rs2715860	3
O43157	5364	<ul><li>RRRR->AAAA at 1302-1305: Abolishes cleavage by proprotein convertases</li></ul>	<li>R->W at 389: in dbSNP:rs34050056</li><li>S->L at 753: in dbSNP:rs35592743</li><li>D->V at 1891: in a breast cancer sample; somatic mutation</li>									<li>rs35592743</li><li>rs34050056</li>	3
O43252	9061	<ul><li>H->A at 425: Loss of activity</li><li>N->K at 426: Increased activity</li><li>GH->AA at 427-428: Loss of activity</li><li>G->A at 427: 30% decrease in activity</li><li>H->A at 428: Loss of activity</li></ul>	<li>L->F at 270: in dbSNP:rs1127008</li><li>S->L at 587: in dbSNP rsrs1127014</li>									<li>rs1127014</li><li>rs1127008</li>	3
O43257	10467	<ul><li>T->A at 103: Impairs the p38 MAPK-mediated phosphorylation of ZNHIT1</li><li>S->A at 124: No change in the in vitro MAPK14/MAPK11-induced phosphorylation level of ZNHIT1</li></ul>	<li>R->W at 134: in a colorectal cancer sample; somatic mutation</li>	phosphorylation	GO:0016310					<li>Q24JY4</li><li>O02812</li><li>Q95NE7</li><li>Q15759</li><li>O43257</li><li>Q16539</li><li>O62618</li>			3
O43283	9175	<ul><li>K->A at 195: Kinase inactive. Fails to activate NF-kappa-B</li></ul>	<li>E->K at 44: in dbSNP:rs35266179</li><li>R->G at 517: in dbSNP rsrs56408536</li><li>E->K at 712: in dbSNP rsrs56309231</li><li>P->L at 746: in a metastatic melanoma sample; somatic mutation</li><li>R->H at 915: in dbSNP:rs3732576</li>									<li>rs56408536</li><li>rs56309231</li><li>rs3732576</li><li>rs35266179</li>	3
O43294	7041	<ul><li>Y->F at 60: Prevents phosphorylation by FAK2 and FYN. Prevents interaction with CSK</li><li>FLQLF->ALQAA at 338-342: Loss of interaction with AR; when associated with 456-A--A-460</li><li>C->S at 369: Loss of AR coactivation; when associated with S-372</li><li>C->S at 372: Loss of AR coactivation; when associated with S-369</li><li>H->S at 428: Loss of AR coactivation; when associated with S-431</li><li>C->S at 431: Loss of AR coactivation; when associated with S-428</li><li>FLKLF->ALKAA at 456-460: Loss of interaction with AR; when associated with 338-A--A-342</li></ul>	<li>Q->H at 129: in dbSNP:rs45475699</li>	phosphorylation	GO:0016310					<li>Q05876</li><li>P41239</li><li>Q14289</li><li>Q0VBZ0</li><li>P06241</li><li>P41240</li><li>P27446</li>		rs45475699	3
O43318	6885	<ul><li>K->W at 63: Loss of kinase activity</li></ul>				kinase activity	GO:0016301						1
O43353	8767	<ul><li>K->A at 47: Abolishes kinase activity</li><li>K->M at 47: Reduces FAS-mediated apoptosis</li><li>D->N at 146: Abolishes kinase activity</li></ul>	<li>I->T at 259: in dbSNP:rs2230801</li><li>L->V at 268: in dbSNP:rs35004667</li><li>K->N at 313: in dbSNP rsrs35395048</li>	apoptosis	GO:0006915	kinase activity	GO:0016301			<li>O77736</li><li>Q9TSN4</li><li>P12276</li><li>P49327</li><li>Q9BDN4</li><li>P36189</li><li>P29251</li><li>P63103</li><li>P51867</li><li>Q9BDN0</li><li>P08757</li><li>P25445</li><li>Q9BDP2</li>		<li>rs35395048</li><li>rs2230801</li><li>rs35004667</li>	3
O43432	8672	<ul><li>R->D at 756: Reduces binding to EIF4A; when associated with D-759 and D-764</li><li>R->D at 759: Reduces binding to EIF4A; when associated with D-756 and D-764</li><li>K->D at 764: Reduces binding to EIF4A; when associated with D-756 and D-759</li><li>R->D at 814: Reduces binding to EIF4A; when associated with D-820</li><li>K->D at 820: Reduces binding to EIF4A; when associated with D-814</li><li>RK->DD at 834-835: Reduces binding to IRES</li></ul>	<li>Q->R at 378: in dbSNP:rs35731992</li><li>P->A at 496: in dbSNP:rs35176330</li><li>D->E at 1185: in dbSNP:rs2230572</li>			binding	GO:0005488			Q02748		<li>rs2230572</li><li>rs35176330</li><li>rs35731992</li>	3
O43447	10465	<ul><li>W->F at 133: Abolishes inhibition by cyclosporin A</li></ul>											1
O43462	51360	<ul><li>H->F at 171: Loss of activity</li><li>E->A,Q at 172: Loss of activity</li><li>E->D at 172: Partial loss of activity</li><li>H->F at 175: Loss of activity</li><li>D->N at 467: Loss of activity</li></ul>											1
O43463	6839	<ul><li>W->A at 64: Abolishes methyltransferase activity</li><li>Y->A at 67: Abolishes methyltransferase activity</li><li>H->R at 320: Strongly increases methylation of histone H3</li><li>H->L,K at 324: Abolishes methylation of histone H3</li><li>C->A at 326: Abolishes methylation of histone H3</li></ul>								<li>P61835</li><li>P61834</li><li>P61833</li><li>Q9P427</li><li>P61832</li><li>Q98RY4</li><li>P61831</li><li>P03588</li><li>P61830</li><li>P03589</li><li>P83864</li><li>P07041</li><li>P90543</li><li>P02299</li><li>P28726</li><li>P08437</li><li>Q757N1</li><li>P61836</li><li>P50564</li><li>Q00020</li><li>Q83270</li><li>P28931</li><li>P06011</li><li>Q06196</li><li>P08898</li><li>P23753</li><li>P17769</li><li>P20122</li><li>Q9HDN1</li><li>Q66121</li><li>Q7XYZ0</li><li>O40976</li><li>Q9U7D1</li><li>Q2UCQ0</li><li>Q5DWI3</li><li>P80553</li><li>P40285</li><li>P84239</li><li>P84238</li><li>P27752</li><li>P84237</li><li>P84236</li><li>P22843</li><li>Q83264</li><li>P84235</li>			1
O43464	27429	<ul><li>A->M at 134: Loss of interaction with XIAP. Loss of inhibition of XIAP activity</li><li>S->A at 306: Loss of protease activity</li></ul>	<li>L->P at 72</li><li>A->S at 141: polymorphism; associated with a 2.15-fold increased risk of PD; reduced protease activity</li><li>G->S at 399: in PARK13; reduced protease activity, MIM: 610297</li><li>R->W at 404: could be associated with an increased risk of developing PD, MIM: 610297</li>							<li>P19028</li><li>Q9QBZ5</li><li>P24107</li><li>Q9QBZ1</li><li>Q79666</li><li>P15833</li><li>P03362</li><li>P18042</li><li>Q8AII1</li><li>P03363</li><li>P04024</li><li>P04023</li><li>P10978</li><li>O93215</li><li>P26810</li><li>Q1A249</li><li>P03356</li><li>P03355</li><li>O41798</li><li>P20892</li><li>Q9Y6I0</li><li>P10210</li><li>Q9QBY3</li><li>P03353</li><li>P16901</li><li>Q74120</li><li>Q09SZ9</li><li>P98170</li><li>Q89928</li><li>Q73368</li><li>P84454</li><li>Q9WC63</li><li>P20825</li><li>Q9IDV9</li><li>P0C211</li><li>P0C210</li><li>P51518</li><li>Q4U0X6</li><li>P12451</li><li>P07570</li><li>P28936</li><li>O89940</li><li>P24740</li><li>P26809</li><li>P26808</li><li>Q0R5R3</li><li>Q0R5R2</li><li>P18802</li><li>P10394</li><li>P19561</li><li>P16423</li><li>P63119</li><li>P19560</li><li>Q75002</li><li>P04589</li><li>P04587</li><li>P04588</li><li>Q9QSR3</li><li>O91080</li><li>P16046</li><li>P17757</li><li>P12497</li><li>P12499</li><li>P12498</li><li>P03311</li><li>P20875</li><li>P20876</li><li>P10273</li><li>Q9WC54</li><li>P10272</li><li>P10271</li><li>P10270</li><li>P19199</li><li>P05962</li><li>P18096</li><li>P10265</li><li>P04584</li><li>P11227</li><li>P04585</li><li>Q76634</li><li>Q8I7P9</li><li>Q9Q720</li><li>P14078</li><li>P31822</li><li>P11365</li><li>P35963</li><li>P14074</li><li>P05959</li><li>P63131</li><li>P04323</li><li>P10274</li><li>P21407</li><li>O89290</li><li>P35956</li><li>P05960</li><li>P05961</li><li>Q1A267</li><li>P63122</li><li>P63123</li><li>P63124</li><li>P63125</li><li>P63120</li><li>P63121</li><li>P03366</li><li>P03367</li><li>P03369</li><li>P63127</li><li>P63128</li><li>P63129</li><li>Q77373</li><li>P03370</li><li>P27502</li><li>P21414</li>	Parkinson disease type 13 (PARK13) [MIM:610297, 168600]		3
O43493	10618	<ul><li>Y->A at 430: Loss of relocalization to the trans-Golgi</li></ul>	<li>L->V at 10: in dbSNP:rs1128140</li><li>A->G at 86: in dbSNP:rs1044962</li><li>Q->L at 91: in dbSNP:rs1044963</li><li>K->Q at 103: in dbSNP:rs1044964</li><li>Q->P at 105: in dbSNP:rs1044965</li><li>R->W at 259: in dbSNP:rs4247303</li><li>E->G at 322: in dbSNP:rs1044969</li>									<li>rs1044969</li><li>rs4247303</li><li>rs1044965</li><li>rs1044964</li><li>rs1044963</li><li>rs1128140</li><li>rs1044962</li>	3
O43504	10542	<ul><li>T->A at 12: No change</li><li>T->A at 36: No interaction with XABX14-154 (truncated form of HBX)</li></ul>											1
O43524	2309	<ul><li>T->A at 32: Abolishes YWHAZ-binding; when associated with A-253. Exclusively nuclear, induces transcription and promotes apoptosis; when associated with A-253 and A-315</li><li>S->A at 209: Impairs nuclear translocation upon oxidative stress</li><li>K->A at 242: Slightly decreases DNA affinity</li><li>K->A at 245: Decreases DNA affinity</li><li>S->A at 253: Abolishes YWHAZ-binding; when associated with A-32. Exclusively nuclear, induces transcription and promotes apoptosis; when associated with A-32 and A-315</li><li>S->A at 315: No effect on YWHAZ-binding. Promotes nuclear translocation. Exclusively nuclear, induces transcription and promotes apoptosis; when associated with A-32 and A-253</li></ul>		<li>apoptosis</li><li>transcription</li>	<li>GO:0006915</li><li>GO:0006350</li>	binding	GO:0005488			<li>P63103</li><li>P29361</li><li>Q5ZKC9</li><li>Q5R651</li><li>P63104</li>			1
O43525	3786	<ul><li>G->S at 318: >50% Reduction of wt heteromeric current; ratio of 1</li></ul>	<li>D->G at 305: in EBN2; reduces the maximal heteromeric current by approx. 40% with no alteration in voltage dependence of activation or deactivation kinetics, MIM: 121201</li><li>W->R at 309: in EBN2, MIM: 121201</li><li>G->V at 310: in EBN2; about 50% reduction of wild-type heteromeric current; ratio of 1:1; or 20%; ratio of 1:1:2, MIM: 121201</li><li>E->G at 414: in dbSNP:rs2303995, MIM: 121201</li><li>N->S at 468: has no statistically significant effect on the current or biophysical properties of the heteromeric channel, MIM: 121201</li>								Benign neonatal epilepsy type 2 (EBN2) [MIM:121201]	rs2303995	3
O43526	3785	<ul><li>S->E at 52: 40% increase in potassium current amplitude. Ratio of 1</li><li>S->Q at 52: Decrease of PKA stimulation. Ratio of 1</li><li>G->S at 279: More than 50% reduction of wt heteromeric current. Ratio of 1</li></ul>	<li>R->Q at 207: in MK2; leads to a shift of voltage-dependent activation, MIM: 606437</li><li>R->W at 207: in EBNMK; leads to a shift of voltage-dependent activation of the channel and a dramatic slowing of activation upon depolarization, MIM: 606437</li><li>M->V at 208: in EBN1; minor effect on maximal current but clearly exhibits a faster rate of deactivation, MIM: 121200</li><li>R->W at 214: in EBN1: in dbSNP rsrs28939684, MIM: 121200</li><li>H->Q at 228: in EBN1, MIM: 121200</li><li>L->F at 243: in EBN1, MIM: 121200</li><li>S->W at 247: in EBN1; atypical phenotype; reduces channel currents by more than 50% in homomeric channels, MIM: 121200</li><li>Y->C at 284: in EBN1; 30%-60% reduction of wt heteromeric current. Ratio 1:1 or 20%-30%; ratio of 1:1:2: in dbSNP rsrs28939683, MIM: 121200</li><li>A->T at 306: in EBN1; 20%-40% reduction of wt heteromeric current. Ratio of 1:1:2, MIM: 121200</li><li>R->Q at 333: in EBN1; moderate effect; less than 50% reduction in current compared with wt heteromeric channels, MIM: 121200</li><li>K->N at 554: in EBN1; atypical phenotype; decreases the voltage-dependence of the channel, MIM: 121200</li><li>N->T at 780: in dbSNP:rs1801475, MIM: 121200</li>			PKA	GO:0004691			<li>P49137</li><li>P63141</li><li>P49138</li><li>P49139</li>	<li>Myokymia isolated type 2 (MK2) [MIM:606437]</li><li>Benign neonatal epilepsy with myokymia (EBNMK) [MIM:606437]</li><li>Benign neonatal epilepsy type 1 (EBN1) [MIM:121200]</li>	<li>rs28939683</li><li>rs28939684</li><li>rs1801475</li>	3
O43529	9486	<ul><li>K->A at 128: Loss of function</li><li>K->R at 128: Induces a reduction in enzyme activity</li><li>R->A,K at 189: Loss of function</li><li>D->A at 190: Loss of function</li><li>D->E at 190: Induces a mild reduction in enzyme activity</li><li>P->A,G at 191: Loss of function</li><li>S->A,T at 197: Loss of function</li></ul>	<li>V->L at 20: in dbSNP:rs35177621</li><li>D->N at 258: in dbSNP:rs3748932</li>									<li>rs35177621</li><li>rs3748932</li>	3
O43541	4091	<ul><li>S->A at 435: Loss of phosphorylation</li><li>G->S at 471: Loss of interaction with SMAD1 and BMP-receptor</li><li>Missing at 478-496: Loss of interaction with SMAD1</li></ul>		phosphorylation	GO:0016310					<li>Q1JQA2</li><li>P35855</li><li>Q15797</li><li>Q9I962</li>			1
O43561	27040	<ul><li>C->A at 26: Reduces palmitoylation; abolishes localization to lipid rafts</li><li>C->A at 29: Reduces palmitoylation; impairs localization to lipid rafts</li><li>Y->F at 161: Abolishes interaction with PLCG1</li><li>Y->F at 200: Abolishes interaction with GRB2 and PIK3R1; when associated with F-220</li><li>Y->F at 220: Abolishes interaction with GRB2 and PIK3R1; when associated with F-200</li></ul>		localization	GO:0051179			lipid rafts	GO:0045121	<li>P27986</li><li>P62993</li><li>Q07883</li><li>Q5R4J7</li><li>P08487</li><li>P23727</li><li>P19174</li>			1
O43586	9051	<ul><li>W->A at 232: Abolishes binding to MEFV</li><li>Y->F at 345: Decreases binding to MEFV</li></ul>	<li>Q->H at 48: in dbSNP:rs1141038</li><li>E->K at 106: in dbSNP:rs1141039</li><li>Q->H at 146: in dbSNP:rs1141041</li><li>R->L at 149: in dbSNP:rs1141042</li><li>A->S at 151: in dbSNP:rs1141043</li><li>E->D at 155: in dbSNP:rs1141044</li><li>Q->H at 156: in dbSNP:rs1141045</li><li>A->T at 230: in PAPAS; severely reduced binding with PTPN12; markedly increased binding to MEFV; accentuates the IL1B secretion: in dbSNP rsrs28939381, MIM: 604416</li><li>E->Q at 250: in PAPAS; severely reduced binding with PTPN12; markedly increased binding to MEFV; accentuates the IL1B secretion: in dbSNP rsrs28939089, MIM: 604416</li>	secretion	GO:0046903	binding	GO:0005488			<li>Q28386</li><li>Q8WNR2</li><li>Q2MH07</li><li>Q865X8</li><li>P48090</li><li>O15553</li><li>P26889</li><li>Q9XS77</li><li>P14628</li><li>Q9YGD3</li><li>Q6R2X3</li><li>P41687</li><li>Q05209</li><li>Q9WVG1</li><li>P51493</li><li>P21621</li><li>P79162</li><li>P79182</li><li>P46648</li><li>P09428</li><li>P51745</li><li>Q6PUD2</li><li>Q28292</li><li>P01584</li><li>Q2HZH0</li>	PAPA syndrome (PAPAS) [MIM:604416]	<li>rs1141042</li><li>rs1141043</li><li>rs1141044</li><li>rs1141045</li><li>rs28939381</li><li>rs1141039</li><li>rs1141038</li><li>rs28939089</li><li>rs1141041</li>	3
O43592	11260	<ul><li>RKQLK->AAQLA at 405-409: Abolishes binding to tRNA. Does not abolish shuttling behavior</li><li>KVRSR->AVRSA at 539-543: Does not abolish binding to tRNA. Does not abolish shuttling behavior</li><li>LFSRF->AFSRA at 547-551: Does not abolish binding to tRNA. Does not abolish shuttling behavior</li><li>FSRFV->ASRFA at 548-552: Does not abolish binding to tRNA. Does not abolish shuttling behavior</li><li>RFVKSLNK->AFVAS at 550-557: Abolishes binding to tRNA. Does not abolish shuttling behavior</li></ul>	<li>A->V at 526: in dbSNP:rs17851795</li><li>E->D at 716: in dbSNP:rs1051396</li>	behavior	GO:0007610	<li>binding</li><li>tRNA</li>	<li>GO:0005488</li><li>GO:0030533</li>					<li>rs17851795</li><li>rs1051396</li>	3
O43617	27095	<ul><li>C->S at 68: Loss of palmitoylation</li></ul>											1
O43639	8440	<ul><li>W->K at 148: Abolishes interaction with DOCK1</li><li>W->K at 234: Abolishes interaction with DOCK1</li></ul>								Q14185			1
O43663	9055	<ul><li>T->A at 470: No effect. Reduces in vitro cyclin E-CDK2 phosphorylation and causes extensive bundling of microtubules to the mitotic spindle; when associated with A-481</li><li>T->A at 481: No effect. Reduces in vitro cyclin E-CDK2 phosphorylation and causes extensive bundling of microtubules to the mitotic spindle; when associated with A-470</li></ul>	<li>A->E at 187: in dbSNP:rs7172758</li><li>Y->C at 511: in dbSNP:rs12911192</li>	phosphorylation	GO:0016310			<li>microtubules</li><li>spindle</li>	<li>GO:0005874</li><li>GO:0005819</li>	<li>P04961</li><li>P22177</li><li>O16852</li><li>Q00268</li><li>Q00265</li><li>P24314</li><li>P61074</li><li>P24941</li><li>O55076</li><li>P17070</li><li>P48963</li><li>Q5E9Y0</li><li>P43450</li><li>P31008</li><li>P18248</li><li>P17917</li><li>P53358</li><li>P17918</li><li>O01377</li><li>P12004</li>		<li>rs7172758</li><li>rs12911192</li>	3
O43719	27336	<ul><li>Y->D at 136: Loss of interaction with U snRNPs</li></ul>	<li>G->A at 478: in dbSNP:rs2071913</li><li>N->T at 526: in dbSNP:rs12852634</li><li>D->G at 678: in dbSNP:rs17339410</li>					snRNPs	GO:0030532			<li>rs17339410</li><li>rs2071913</li><li>rs12852634</li>	3
O43808	10478	<ul><li>LMF->KKK at 283-285: Impairs interaction with PEX19</li><li>EK->LL at 289-290: Impairs interaction with PEX19</li><li>KR->EE at 302-303: No effect on interaction with PEX19</li></ul>	<li>H->R at 98: in dbSNP:rs12159334</li>							<li>P40855</li><li>Q3SZD1</li><li>Q60415</li><li>Q07418</li><li>Q5R7U2</li>		rs12159334	3
O43809	11051	<ul><li>K->R at 23: Abolishes acetylation</li><li>K->R at 29: No effect on acetylation</li></ul>											1
O43918	326	<ul><li>C->P at 302: Reduces transcription activation</li><li>C->P at 437: Reduces transcription activation</li></ul>	<li>R->C at 15: in APECED, MIM: 240300</li><li>R->L at 15: in APECED; enzymatic activity of approximately 30% of that of the wild-type, MIM: 240300</li><li>T->M at 16: in APECED; enzymatic activity of approximately 10% of that of the wild-type, MIM: 240300</li><li>A->V at 21: in APECED, MIM: 240300</li><li>Missing  at 22-23: in APECED; lack of alpha-galactosidase enzymatic activity; lack of homodimerization, MIM: 240300</li><li>L->P at 28: in APECED; abolishes association with cytoplasmic tubular structures and homodimerization, MIM: 240300</li><li>L->P at 29: in APECED, MIM: 240300</li><li>F->S at 77: in APECED; lack of alpha-galactosidase enzymatic activity; lack of homodimerization, MIM: 240300</li><li>W->R at 78: in APECED; lack of alpha-galactosidase enzymatic activity; lack of homodimerization, MIM: 240300</li><li>V->L at 80: in APECED, MIM: 240300</li><li>K->E at 83: in APECED, MIM: 240300</li><li>Y->C at 85: in APECED, MIM: 240300</li><li>Y->C at 90: in APECED, MIM: 240300</li><li>L->R at 93: in APECED, MIM: 240300</li><li>G->W at 228: in APECED; changes the subcellular localization and in addition disrupts the transactivating capacity of the wild-type AIRE; acts with a dominant negative effect by binding to the wild-type AIRE thus preventing the protein from forming the complexes needed for transactivation, MIM: 240300</li><li>P->L at 252: in APECED: in dbSNP rsrs34397615, MIM: 240300</li><li>S->R at 278: in dbSNP:rs1800520, MIM: 240300</li><li>V->M at 301: in APECED; no effect on protein structure, MIM: 240300</li><li>G->S at 305, MIM: 240300</li><li>C->Y at 311: in APECED; impairs zinc binding and folding of the PHD-type 1 zinc finger, MIM: 240300</li><li>P->L at 326: in APECED, MIM: 240300</li><li>P->Q at 326: in APECED; alters folding of the PHD-type 1 zinc finger, MIM: 240300</li><li>P->L at 539: in APECED, MIM: 240300</li>	<li>transcription</li><li>localization</li>	<li>GO:0006350</li><li>GO:0051179</li>	<li>binding</li><li>zinc binding</li>	<li>GO:0005488</li><li>GO:0008270</li>			<li>Q97U94</li><li>P27756</li><li>O34645</li><li>P20942</li><li>P20941</li><li>O43918</li><li>Q9X4Y0</li><li>P19632</li><li>P41686</li><li>Q9XS39</li><li>P30877</li><li>P06720</li><li>P16551</li><li>O77560</li><li>Q9QW08</li>	Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]	<li>rs34397615</li><li>rs1800520</li>	3
O60216	5885	<ul><li>R->A at 172: Abolishes first cleavage by ESPL1</li><li>D->A at 279: Abolishes cleavage by caspase-3</li><li>R->A at 450: Abolishes second cleavage by ESPL1</li></ul>	<li>G->R at 481</li>							Q14674			3
O60229	8997	<ul><li>K->A at 2712: Loss of autophosphorylation</li></ul>	<li>S->L at 196: in dbSNP rsrs56098940</li><li>R->W at 213: in a colorectal cancer sample; somatic mutation</li><li>E->D at 1326: in dbSNP:rs2289838</li><li>S->C at 1896: in a breast cancer sample; somatic mutation</li>	autophosphorylation	GO:0046777							<li>rs2289838</li><li>rs56098940</li>	3
O60239	9467	<ul><li>L->A at 347: Loss of phosphorylation and binding by phospho-JNK; when associated with A-349</li><li>L->A at 349: Loss of phosphorylation and binding by phospho-JNK; when associated with A-347</li><li>L->A at 434: No change of phosphorylation or binding by phospho-JNK; when associated with A-436</li><li>L->A at 436: No change of phosphorylation or binding by phospho-JNK; when associated with A-434</li></ul>		phosphorylation	GO:0016310	binding	GO:0005488			<li>Q966Y3</li><li>P92208</li>			1
O60260	5071	<ul><li>C->S at 332: Impairs folding of IBR domain</li><li>C->A at 337: Impairs the ability to ubiquitinate SNCAIP</li><li>C->S at 365: Impairs protein folding</li><li>C->R at 418: Fails to ubiquitinate SYT11. Does not loose ability to bind SYT11</li><li>C->A at 421: Impairs the ability to ubiquitinate SNCAIP</li><li>C->A at 431: Impairs the ability to ubiquitinate SNCAIP</li></ul>	<li>V->M at 15: in PD, MIM: 168600</li><li>R->Q at 33: in PD, MIM: 168600</li><li>P->L at 37: in PARK2, MIM: 600116</li><li>R->P at 42: in PD; early-onset; induces a conformational change in the PSMD4-binding site of Ubl resulting in impaired proteasomal binding, MIM: 168600</li><li>A->P at 46: in PD; early-onset; sporadic, MIM: 168600</li><li>A->E at 82: in PARK2 and PD: in dbSNP rsrs55774500, MIM: 168600</li><li>A->V at 92: in PARK2, MIM: 600116</li><li>Q->H at 100, MIM: 600116</li><li>K->N at 161: in PARK2 and PD, MIM: 168600</li><li>S->N at 167: in dbSNP:rs1801474, MIM: 168600</li><li>M->L at 192: in dbSNP:rs9456735, MIM: 168600</li><li>M->V at 192: in PD; early and late onset; dbSNP:rs9456735, MIM: 168600</li><li>K->N at 211: in PD; early and late onset, MIM: 168600</li><li>K->R at 211: in PD; early onset, MIM: 168600</li><li>C->Y at 212: in PARK2, MIM: 600116</li><li>T->M at 240: in PD; late onset, MIM: 168600</li><li>T->R at 240: in PARK2; impairs the ability to ubiquitinate SNCAIP; loss of UBE2L3 binding, MIM: 600116</li><li>C->Y at 253: in PD; late onset, MIM: 168600</li><li>R->C at 256: in PARK2 and PD; early and late onset; impairs the ability to ubiquitinate SNCAIP; dbSNP:rs34424986, MIM: 168600</li><li>R->S at 271, MIM: 168600</li><li>R->W at 275: in PARK2 and PD; early and late onset; impairs the ability to ubiquitinate SNCAIP: in dbSNP rsrs34424986, MIM: 168600</li><li>D->N at 280: in PD, MIM: 168600</li><li>G->R at 284: in PARK2, MIM: 600116</li><li>C->G at 289: in PD; fails to ubiquitinate SYT11; loses ability to bind SYT11: in dbSNP rsrs55961220, MIM: 168600</li><li>G->E at 328: in PD, MIM: 168600</li><li>R->C at 334: in PD, MIM: 168600</li><li>A->S at 339, MIM: 168600</li><li>T->P at 351: in PARK2; impairs folding of IBR domain, MIM: 600116</li><li>R->W at 366: in dbSNP rsrs56092260, MIM: 600116</li><li>V->L at 380: in dbSNP:rs1801582, MIM: 600116</li><li>D->N at 394: in dbSNP:rs1801334, MIM: 600116</li><li>T->N at 415: in PARK2 and PD; impairs the ability to ubiquitinate SNCAIP; does not affect turnover of CDCRE1, MIM: 168600</li><li>G->D at 430: in PD; early onset, MIM: 168600</li><li>C->F at 431: in PARK2, MIM: 600116</li><ul><li>C->A at 431: Impairs the ability to ubiquitinate SNCAIP</li></ul><li>P->L at 437: in PD; early and late onset, MIM: 168600</li></ul><li>C->R at 441: in PD, MIM: 168600</li></ul>	protein folding	GO:0006457	binding	GO:0005488			<li>Q3MHP1</li><li>P68036</li><li>Q9Y6H5</li><li>O60260</li><li>Q9BT88</li><li>P55036</li><li>Q58DA0</li>	<li>Parkinson disease (PD) [MIM:168600]</li><li>Autosomal recessive early onset Parkinson disease 2 (PARK2) [MIM:600116]</li>	<li>rs34424986</li><li>rs1801334</li><li>rs55961220</li><li>rs1801582</li><li>rs1801474</li><li>rs9456735</li><li>rs55774500</li><li>rs56092260</li>	4
O60264	8467	<ul><li>K->R at 211: Loss of ATP hydrolysis and no association of the SMARCA5/cohesin/NuRD complex with chromatin</li></ul>		ATP hydrolysis	GO:0006200			chromatin	GO:0000785	<li>Q06851</li><li>O60264</li>			1
O60285	9891	<ul><li>T->A at 211: Prevents phosphorylation and activation by STK11 complex</li><li>S->A at 600: No phosphorylation</li></ul>	<li>G->D at 419: in dbSNP rsrs55774704</li><li>P->R at 543: in dbSNP:rs3741883</li>	phosphorylation	GO:0016310					<li>Q15831</li><li>Q0GGW5</li>		<li>rs3741883</li><li>rs55774704</li>	3
O60337	10299	<ul><li>C->A at 9: Abolishes auto-ubiquitination</li></ul>	<li>P->L at 622: in dbSNP:rs1062914</li>									rs1062914	3
O60341	23028	<ul><li>N->A at 535: Strongly reduces demethylase activity</li><li>H->A at 564: Strongly reduces demethylase activity</li><li>K->A at 661: Abolishes histone demethylase activity</li><li>Y->A at 761: Strongly reduces demethylase activity</li></ul>								Q9UBB5			1
O60346	23239	<ul><li>Missing at 1715-1717: Loss of function in vivo, but does not abolishes intrinsic phosphatase activity</li></ul>								<li>Q7M7K5</li><li>Q5X1E5</li><li>Q7MAZ9</li><li>Q8XBL4</li><li>Q7MBF4</li><li>Q5P3T0</li><li>Q88A53</li><li>Q5PC82</li><li>Q8Z3M9</li><li>Q821A6</li><li>Q5ZRX9</li><li>Q87SK9</li><li>Q9JZ88</li><li>Q9CP21</li><li>Q82U82</li><li>Q9I5V3</li><li>Q5F8K9</li><li>Q63YC3</li><li>Q8Y395</li><li>Q6LV05</li><li>Q8ZLY4</li><li>Q6FA38</li><li>Q9PDL7</li><li>Q62EU1</li><li>Q9JUB2</li><li>Q5WT58</li><li>Q665U9</li><li>Q57JQ5</li><li>Q9KPC6</li><li>Q8CWL6</li><li>Q8P5D4</li><li>Q8PPG9</li><li>P06961</li><li>P45269</li><li>Q88QU2</li><li>Q9L7A3</li><li>Q6D160</li><li>Q87DS9</li><li>Q60CQ4</li><li>Q8ZI64</li><li>Q65Q41</li><li>Q5E2K7</li><li>Q8CXX6</li>			1
O60504	10174	<ul><li>W->F at 649: Loss of SOS-binding ability</li><li>Y->V at 667: Loss of SOS-binding ability</li></ul>	<li>T->I at 556: in dbSNP:rs2449331</li><li>T->A at 573: in dbSNP:rs1047030</li>			binding	GO:0005488					<li>rs2449331</li><li>rs1047030</li>	3
O60516	8637	<ul><li>Y->A at 40: Loss of interaction with EIF4E</li><li>L->A at 45: Loss of interaction with EIF4E</li></ul>								<li>Q9P974</li><li>P63074</li><li>Q9P975</li><li>Q9N0T5</li><li>P29338</li><li>P48598</li><li>Q75AV8</li><li>P06730</li><li>P48597</li><li>O77210</li><li>P07260</li><li>Q5UQG4</li><li>P63073</li><li>Q9PW28</li>			1
O60563	904	<ul><li>C->Y at 261: Loss of HIV-1 Tat transactivation</li></ul>	<li>H->R at 362: in dbSNP:rs17123261</li>									rs17123261	3
O60566	701	<ul><li>D->E at 579: Abolishes the cleavage by caspase-3</li><li>D->E at 610: Abolishes the cleavage by caspase-3</li><li>K->A at 795: Does not abolish the capacity to inhibit APC/CDC20</li><li>K->R at 795: Inhibits kinase activity</li></ul>	<li>M->T at 15: in a colorectal cancer cell line</li><li>R->Q at 36: in PCS, MIM: 176430</li><li>T->M at 40: in dbSNP rsrs56079734, MIM: 176430</li><li>R->Q at 349: in dbSNP:rs1801376, MIM: 176430</li><li>P->S at 378: in dbSNP:rs17851677, MIM: 176430</li><li>E->D at 390: in dbSNP:rs1017842, MIM: 176430</li><li>R->Q at 550: in MVA; heterozygous compound with nonsense mutation; dbSNP:rs28989187, MIM: 257300</li><li>V->A at 618: in colorectal cancer; dbSNP:rs1801528, MIM: 257300</li><li>R->H at 814: in MVA; heterozygous compound with nonsense mutation; dbSNP:rs28989182, MIM: 257300</li><li>L->F at 844: in MVA; associated with H-921; heterozygous compound with nonsense mutation; dbSNP:rs28989181, MIM: 257300</li><li>I->T at 909: in MVA; heterozygous compound with nonsense mutation; dbSNP:rs28989184, MIM: 257300</li><li>Q->H at 921: in MVA; associated with F-844; heterozygous compound with nonsense mutation; dbSNP:rs28989183, MIM: 257300</li><li>L->P at 1012: in MVA; heterozygous compound with nonsense mutation; dbSNP:rs28989185, MIM: 257300</li>			kinase activity	GO:0016301			<li>P25054</li><li>Q12834</li><li>P26309</li>	<li>Premature chromatid separation trait (PCS) [MIM:176430]</li><li>Mosaic variegated aneuploidy syndrome (MVA) [MIM:257300]</li>	<li>rs1017842</li><li>rs56079734</li><li>rs17851677</li><li>rs28989181</li><li>rs28989182</li><li>rs28989183</li><li>rs1801528</li><li>rs28989184</li><li>rs28989185</li><li>rs28989187</li><li>rs1801376</li>	3
O60573	9470	<ul><li>W->A at 63: Unable to bind capped mRNA</li><li>W->A at 95: Ability to bind capped mRNA reduced to 40% of wild-type</li><li>WED->FAA at 124-126: Unable to bind capped mRNA</li><li>W->A at 124: Ability to bind capped mRNA reduced to less than 10% of wild-type</li><li>W->F at 124: Ability to bind capped mRNA reduced to 13% of wild-type</li><li>E->A at 125: Ability to bind capped mRNA reduced to less than 10% of wild-type</li><li>D->A at 126: Slight reduction in ability to bind capped mRNA</li><li>W->A at 135: Unable to bind capped mRNA</li><li>W->A at 148: Unable to bind capped mRNA</li><li>W->A at 183: Ability to bind capped mRNA reduced to less than 10% of wild-type</li><li>W->F at 183: Unable to bind capped mRNA</li></ul>											1
O60583	905	<ul><li>N->C at 260: Activation of HIV-1 Tat function</li></ul>											1
O60603	7097	<ul><li>N->S at 114: Prevents addition of N-glycans. Reduces secretion of the N-terminal ectodomain</li><li>N->D at 199: Prevents addition of N-glycans. Reduces secretion of the N-terminal ectodomain</li><li>T->A at 416: Prevents addition of N-glycans. Reduces secretion of the N-terminal ectodomain</li><li>N->D at 442: Prevents addition of N-glycans. Prevents secretion of the N-terminal ectodomain</li><li>P->F at 681: Abolishes the interaction with MYD88. No effect on oligomerization or on the structure of the TIR domain</li></ul>	<li>T->I at 411: in dbSNP:rs5743699</li><li>R->H at 579: in dbSNP:rs5743703</li><li>P->H at 631: in dbSNP:rs5743704</li><li>R->W at 677</li><li>Y->N at 715: in dbSNP:rs5743706</li><li>R->Q at 753: in dbSNP:rs5743708</li>	secretion	GO:0046903					Q99836		<li>rs5743699</li><li>rs5743708</li><li>rs5743706</li><li>rs5743704</li><li>rs5743703</li>	3
O60671	5810	<ul><li>SLLKPSTK->AAAAA at 226-233: Abolishes association of the 9-1-1 complex with RAD17</li></ul>	<li>A->G at 33: in dbSNP:rs2308951</li><li>T->S at 104: in dbSNP:rs1805328</li><li>G->D at 114: in dbSNP:rs2308957</li><li>E->G at 281: in dbSNP:rs1805327</li>							<li>Q9MBA3</li><li>P48581</li><li>Q758W7</li><li>Q5R652</li><li>Q9XT62</li><li>O75943</li>		<li>rs1805327</li><li>rs2308951</li><li>rs1805328</li><li>rs2308957</li>	3
O60759	9595	<ul><li>K->E at 82: No membrane-association. No change in the binding to CYTH1; when associated with A-90 and A-92</li><li>F->A at 90: No membrane-association. No change in the binding to CYTH1; when associated with E-82 and A-92</li><li>I->A at 92: No membrane-association. No change in the binding to CYTH1; when associated with E-82 and A-90</li></ul>	<li>D->N at 37: in dbSNP:rs1042038</li><li>Q->E at 83: in dbSNP:rs2229345</li>			binding	GO:0005488	membrane	GO:0016020			<li>rs1042038</li><li>rs2229345</li>	3
O60763	8615	<ul><li>S->A at 942: Loss of phosphorylation</li></ul>		phosphorylation	GO:0016310								1
O60828	10084	<ul><li>W->A at 52: Enhances activity. Reduces activity; when associated with A-75. Markedly reduced activity; when associated with A-64; A-65 and A-66. Abolishes activity; when associated with A-64; A-65; A-66 and A-75</li><li>Y->A at 64: No effect on activity; when associated with A-65 and A-66. Markedly reduced activity; when associated with A-52; A-65 and A-66. Abolishes activity; when associated with A-52; A-65; A-66 and A-75</li><li>Y->A at 65: No effect on activity; when associated with A-64 and A-66. Markedly reduced activity; when associated with A-52; A-64 and A-66. Abolishes activity; when associated with A-52; A-64; A-66 and A-75</li><li>W->A at 66: No effect on activity; when associated with A-64 and A-65. Markedly reduced activity; when associated with A-52; A-64 and A-65. Abolishes activity; when associated with A-52; A-64; A-65 and A-75</li><li>W->A at 75: No effect on activity. Reduces activity; when associated with A-52. Abolishes activity; when associated with A-52; A-64; A-65 and A-66</li><li>P->G at 78: No effect on activity</li></ul>	<li>R->W at 224: in a colorectal cancer sample; somatic mutation</li>										3
O60841	9669	<ul><li>V->G at 640: Loss of activity in vivo. Retains full activity in vitro</li><li>H->E at 706: Loss of activity; both in vivo and in vitro</li><li>H->Q at 706: Loss of activity in vivo. Partial activity in vitro</li><li>D->N at 759: Loss of activity; both in vivo and in vitro</li></ul>											1
O60869	8721	<ul><li>T->D at 40: Loss of interaction with CALM; when associated with D-58; D-91 and D-111</li><li>T->D at 58: Loss of interaction with CALM; when associated with D-40; D-91 and D-111</li><li>T->D at 65: No effect on CALM-binding. No effect; when associated with D-74</li><li>T->D at 74: No effect on CALM-binding. No effect; when associated with D-65</li><li>S->A at 87: No effect on CALM-binding</li><li>S->D at 87: Loss of interaction with CALM and higher affinity for TBP. Same effect; when associated with D-65 and D-74</li><li>T->A at 91: No effect on CALM-binding</li><li>T->D at 91: Partial loss of interaction with CALM. Complete loss of interaction; when associated with D-40; D-58 and D-111</li><li>S->D at 111: Loss of interaction with CALM; when associated with D-40; D-58 and D-91</li></ul>				binding	GO:0005488			<li>Q12731</li><li>O29874</li><li>P58178</li><li>P58177</li><li>Q57930</li><li>Q8TX38</li><li>Q8ZVR0</li><li>O27664</li><li>P53360</li><li>Q9P9I9</li><li>P13393</li><li>O43133</li><li>O23894</li><li>Q9V024</li><li>Q92117</li><li>P62144</li><li>Q92146</li><li>P26354</li><li>P26355</li><li>Q5RAD2</li><li>Q971V3</li><li>Q42808</li><li>P93348</li><li>Q9YAT1</li><li>P62001</li><li>P62000</li><li>P62149</li><li>Q27850</li><li>O13270</li><li>P46272</li><li>O17488</li><li>P48511</li><li>Q9YGV8</li><li>Q978J5</li><li>P62157</li><li>O58737</li><li>P26357</li><li>Q56253</li><li>O74045</li><li>P62158</li><li>Q13492</li><li>P62160</li><li>Q9HLM8</li><li>Q52366</li><li>P32085</li><li>P32086</li><li>P20226</li><li>Q6M0L3</li><li>P52653</li><li>P17871</li><li>Q9UWN7</li><li>Q7M6Y3</li><li>Q6L1R1</li><li>P91809</li><li>Q55031</li><li>P53361</li>			1
O60870	22944	<ul><li>K->E at 302: Significant reduction of RNA-binding activity</li><li>K->E at 391: Significant reduction of RNA-binding activity</li></ul>				RNA-binding	GO:0003723						1
O60880	4068	<ul><li>R->Q at 32: Strongly reduced affinity for SLAMF1</li></ul>	<li>Y->C at 7: in XLP1; reduced protein stability and reduced affinity for SLAMF1, MIM: 308240</li><li>H->D at 8: in XLP1, MIM: 308240</li><li>G->D at 16: in XLP1; abolishes interaction with SLAMF1, MIM: 308240</li><li>G->S at 27: in XLP1, MIM: 308240</li><li>S->R at 28: in XLP1; reduced protein stability, MIM: 308240</li><li>L->P at 31: in XLP1; reduced protein stability and reduced affinity for SLAMF1 and FYN, MIM: 308240</li><li>R->T at 32: in XLP1, MIM: 308240</li><ul><li>R->Q at 32: Strongly reduced affinity for SLAMF1</li></ul><li>D->Y at 33: in XLP1, MIM: 308240</li></ul><li>C->W at 42: in XLP1; loss of interaction with CD84 and reduced affinity for SLAMF1, MIM: 308240</li></ul><li>G->V at 49: in XLP1, MIM: 308240</li></ul><li>T->I at 53: in XLP1; loss of interaction with CD48 and reduced affinity for SLAMF1 and loss of interaction with nonphosphorylated SLAMF1, MIM: 308240</li></ul><li>Y->C at 54: in XLP1; reduced protein stability and reduced affinity for SLAMF1 and FYN, MIM: 308240</li></ul><li>R->L at 55: in XLP1; reduced affinity for SLAMF1 and FYN, MIM: 308240</li></ul><li>S->P at 57: in one XLP1 patient; unknown pathological significance, MIM: 308240</li></ul><li>T->I at 68: in XLP1; loss of interaction with CD48 and strongly reduced affinity for SLAMF1, MIM: 308240</li></ul><li>I->T at 84: in XLP1; reduced protein stability, MIM: 308240</li></ul><li>F->S at 87: in XLP1; reduced protein stability and reduced affinity for SLAMF1 and FYN, MIM: 308240</li></ul><li>Q->P at 99: in XLP1; reduced protein stability and strongly reduced affinity for SLAMF1, MIM: 308240</li></ul><li>P->L at 101: in XLP1; reduced protein stability and reduced affinity for SLAMF1: in dbSNP rsrs28935184, MIM: 308240</li></ul><li>V->G at 102: in XLP1; reduced protein stability and strongly reduced affinity for SLAMF1, MIM: 308240</li></ul>							<li>Q05876</li><li>Q9UIB8</li><li>Q95MM9</li><li>P06241</li><li>Q13291</li><li>P09326</li><li>P27446</li>	Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	rs28935184	4
O60934	4683	<ul><li>R->A at 28: Disrupts nuclear foci formation and block phosphorylation in response to ionizing radiation</li><li>H->A at 45: Disrupts nuclear foci formation and block phosphorylation in response to ionizing radiation</li><li>GG->EE at 136-137: Disrupts nuclear foci formation and block phosphorylation in response to ionizing radiation</li><li>Y->A at 176: Disrupts nuclear foci formation and block phosphorylation in response to ionizing radiation</li><li>S->A at 343: Abrogates ATM-dependent phosphorylation</li><li>S->A at 397: Abrogates ATM-dependent phosphorylation. No loss of interaction with KPNA2</li><li>KR->AA at 465-466: Blocks the association with KPNA2, and reduces nuclear foci formation in response to ionizing radiation</li><li>Q->K at 583: No loss of interaction with KPNA2</li><li>S->A at 615: Abrogates ATM-dependent phosphorylation</li><li>EE->AA at 736-737: Decreases ATM binding</li><li>DD->AA at 741-742: Decreases ATM binding</li><li>RY->AA at 745-746: Decreases ATM binding</li></ul>	<li>S->L at 93: in some childhood acute lymphoblastic leukemia patients; uncertain pathological significance; rare variant: in dbSNP rsrs12721593</li><li>D->N at 95: in some childhood acute lymphoblastic leukemia patients; uncertain pathological significance; rare variant</li><li>K->N at 105: in dbSNP:rs13312858</li><li>N->S at 142: in dbSNP:rs769414</li><li>L->F at 150: in BC, MIM: 114480</li><li>I->V at 171: in some childhood acute lymphoblastic leukemia patients; uncertain pathological significance; rare variant; associated with aplastic anemia at homozygosity, MIM: 114480</li><li>E->Q at 185: in dbSNP:rs1805794, MIM: 114480</li><li>V->F at 210, MIM: 114480</li><li>R->W at 215: in dbSNP rsrs34767364, MIM: 114480</li><li>Q->K at 216: in dbSNP:rs769416, MIM: 114480</li><li>P->L at 266: in dbSNP:rs769420, MIM: 114480</li><li>K->E at 408: in dbSNP:rs34120922, MIM: 114480</li><li>T->A at 497: in dbSNP:rs3026268, MIM: 114480</li><li>L->I at 574, MIM: 114480</li>	phosphorylation	GO:0016310	binding	GO:0005488			<li>Q13315</li><li>Q6PQD5</li><li>P52292</li><li>Q9M3G7</li>	Breast cancer (BC) [MIM:114480]	<li>rs769420</li><li>rs34767364</li><li>rs769414</li><li>rs13312858</li><li>rs769416</li><li>rs1805794</li><li>rs12721593</li><li>rs3026268</li><li>rs34120922</li>	3
O60942	8732	<ul><li>K->A at 294: Loss of GTase activity</li><li>R->A at 299: Loss of GTase activity</li><li>E->A at 345: Loss of GTase activity</li><li>K->A at 458: Loss of GTase activity</li><li>K->A at 460: Loss of GTase activity</li></ul>	<li>R->H at 594: in dbSNP:rs17856595</li>							<li>Q80DX6</li><li>P25950</li><li>Q6FQ31</li><li>P32094</li><li>Q17607</li><li>Q5UQX1</li><li>Q9J584</li><li>O57209</li><li>P78587</li><li>Q9JFA8</li><li>Q6BT58</li><li>Q01159</li><li>P33057</li><li>Q8V2R8</li><li>Q6C783</li><li>Q6CWR0</li><li>P20979</li><li>O55236</li><li>P40997</li><li>Q775U0</li><li>Q755D0</li><li>Q7SB53</li><li>Q8QMV9</li><li>O60942</li><li>P04298</li>		rs17856595	3
O75030	4286	<ul><li>K->R at 289: Loss of sumoylation; when associated with R-423</li><li>S->A,P at 405: Loss of phosphorylation and function</li><li>K->R at 423: Loss of sumoylation; when associated with R-289</li></ul>	<li>R->K at 310: in WS2A; could be a polymorphism, MIM: 193510</li><li>N->K at 317: in Tietz syndrome, MIM: 103500</li><li>Missing  at 324: in WS2A, MIM: 103500</li><li>S->P at 357: in WS2A, MIM: 193510</li><li>N->D at 385: in WS2A, MIM: 193510</li><li>S->P at 405: in WS2A, MIM: 193510</li><ul><li>S->A,P at 405: Loss of phosphorylation and function</li></ul>	<li>phosphorylation</li><li>sumoylation</li>	<li>GO:0016310</li><li>GO:0016925</li>						<li>Tietz syndrome [MIM:103500]</li><li>Waardenburg syndrome type 2A (WS2A) [MIM:193510]</li>		4
O75077	8745	<ul><li>E->A at 566: Significantly lower of adhesion-promoting activity</li></ul>											1
O75081	863	<ul><li>V->P,A at 494: Loss of interaction with PRKAR2A</li></ul>	<li>R->H at 306: in a colorectal cancer sample; somatic mutation</li><li>E->G at 429: in dbSNP:rs1053526</li><li>E->K at 518: in a colorectal cancer sample; somatic mutation</li><li>A->V at 534: in a colorectal cancer sample; somatic mutation</li>							<li>P13861</li><li>P00515</li><li>P05207</li>		rs1053526	3
O75150	9810	<ul><li>L->S at 109: Abolishes interaction with RB1</li><li>C->M at 111: Abolishes interaction with RB1</li><li>E->Q at 113: Abolishes interaction with RB1</li></ul>	<li>R->H at 463: in dbSNP:rs11556801</li><li>R->Q at 615: in dbSNP:rs7195142</li>							P06400		<li>rs7195142</li><li>rs11556801</li>	3
O75164	9682	<ul><li>G->A at 133: Abolishes histone demethylase activity; when associated with A-138</li><li>G->A at 138: Abolishes histone demethylase activity; when associated with A-138</li><li>G->A at 165: Abolishes histone demethylase activity; when associated with A-165</li><li>G->A at 170: Abolishes histone demethylase activity; when associated with A-165</li><li>H->A at 188: Abolishes histone demethylase activity</li><li>ST->AI at 288-289: Displays histone demethylase activity for both dimethylated and H3-K9Me3</li><li>ST->TV,NV,GG at 288-289: Abolishes histone demethylase activity</li><li>D->A at 945: Impairs binding to H3-K4Me3</li><li>D->R at 945: Abolishes binding to H3-K4Me3</li><li>W->H at 967: Abolishes binding to H3-K4Me3</li><li>Y->A at 973: Abolishes binding to H3-K4Me3</li></ul>	<li>E->A at 482: in dbSNP:rs586339</li><li>V->G at 877: in dbSNP:rs12759032</li>			binding	GO:0005488			Q9UBB5		<li>rs586339</li><li>rs12759032</li>	3
O75192	8800	<ul><li>N->D at 9: No effect on peroxisomal location</li><li>KLK->SLS at 243-245: No effect on peroxisomal location</li></ul>											1
O75223	79017	<ul><li>G->A at 23: Marked decrease in catalytic efficiency</li><li>E->A,Q at 98: Abolishes activity without altering structure</li><li>Y->F at 105: Marked decrease in catalytic efficiency and specific activity</li><li>Y->F at 125: Little or no change in reaction kinetics</li></ul>											1
O75319	8446	<ul><li>C->S at 152: Loss of activity. No effect in RNA-binding</li></ul>				RNA-binding	GO:0003723						1
O75340	10016	<ul><li>E->A at 47: Loss of interaction with SEC31A and loss of localization to the endoplasmic reticulum; when associated with A-114</li><li>E->A at 114: Loss of interaction with SEC31A and loss if localization to the endoplasmic reticulum; when associated with A-47</li></ul>	<li>G->C at 123: in a breast cancer sample; somatic mutation</li>	localization	GO:0051179			endoplasmic reticulum	GO:0005783				3
O75351	9525	<ul><li>A->D at 15: Reduces HIV-1 release 2-fold</li><li>A->D at 15: Reducews HIV-1 release 10-fold; when associated with D-66</li><li>L->D at 66: Reduces HIV-1 release 3-fold</li><li>L->D at 66: Reducews HIV-1 release 10-fold; when associated with D-15</li><li>WL->AA at 208-209: Strongly impairs HIV-1 release</li><li>G->A at 210: Impairs HIV-1 release</li><li>E->Q at 235: Defective in vacuolar protein sorting</li><li>Missing at 390-396: Abolishes interaction with VTA1</li></ul>	<li>I->M at 58: common polymorphism; induces thermal instability; dbSNP:rs17688948</li>							Q06263		rs17688948	3
O75355	956	<ul><li>R->G at 67: Increase of activity</li><li>R->A at 143: Loss of activity</li><li>R->K at 143: Increase of activity</li><li>R->N at 146: No effect</li><li>R->P at 146: Increase of ATPase activity, decrease of ADPase activity</li><li>R->T at 146: Increase of activity</li><li>E->D at 182: Complete loss of activity</li><li>E->Q at 182: Complete loss of activity</li><li>W->A at 187: Complete loss of activity</li><li>N->A at 191: Loss of ATPase activity, increase of ADPase activity</li><li>D->E at 219: Increase of activity</li><li>S->A at 224: Complete loss of activity</li><li>Q->A at 226: Loss of activity</li><li>W->A at 459: Increase of activity, especially the ATP hydrolysis</li></ul>	<li>E->D at 440: in dbSNP:rs4470483</li><li>A->V at 496: in dbSNP:rs1047855</li><li>L->F at 505: in dbSNP:rs3733167</li>	ATP hydrolysis	GO:0006200	ATPase activity	GO:0016887			<li>P40009</li><li>P80595</li><li>P50635</li>		<li>rs3733167</li><li>rs4470483</li><li>rs1047855</li>	3
O75365	100131062	<ul><li>C->A at 49: No effect on enzymatic activity</li><li>D->A at 71: No effect on enzymatic activity</li><li>D->A at 72: Abolishes enzymatic activity</li><li>C->A,S at 104: 95% loss of enzymatic activity</li><li>C->S at 104: Reduces migration-promoting activity</li><li>A->S at 111: Enhances catalytic activity</li></ul>				catalytic activity	GO:0003824						1
O75398	10522	<ul><li>Y->Q at 215: Reduces transcription activation</li><li>R->A at 226: Reduces transcription activation</li><li>R->A at 246: Reduces transcription activation</li><li>K->A at 250: Abolishes DNA-binding</li><li>W->Q at 252: Abolishes DNA-binding</li><li>K->A at 253: Abolishes DNA-binding</li><li>R->T at 302: Abolishes nuclear localization</li><li>K->T at 304: Abolishes nuclear localization</li></ul>	<li>E->V at 186: in a primary colorectal cancer</li><li>K->I at 191: in a primary colorectal cancer</li><li>K->N at 191: in a primary colorectal cancer</li><li>YDSE->CDND at 199-202: in a primary colorectal cancer</li><li>E->D at 202: in a primary colorectal cancer</li><li>R->K at 218: in a primary colorectal cancer: in dbSNP rsrs1127312</li><li>DRA->GQT at 350-352: in a primary colorectal cancer</li><li>E->H at 356: in a primary colorectal cancer; requires 2 nucleotide substitutions</li><li>S->N at 364: in a primary colorectal cancer</li><li>Q->H at 367: in a primary colorectal cancer</li><li>V->L at 370: in a primary colorectal cancer</li><li>Y->F at 397: in a primary colorectal cancer</li><li>V->A at 442: in a primary colorectal cancer</li><li>E->K at 449: in a primary colorectal cancer</li><li>RS->GI at 451-452: in a primary colorectal cancer</li><li>Q->H at 468: in a primary colorectal cancer</li><li>H->L at 479: in a primary colorectal cancer</li><li>E->K at 498: in a primary colorectal cancer</li><li>T->N at 526: in a primary colorectal cancer</li><li>R->L at 530: in a primary colorectal cancer</li><li>QH->HL at 537-538: in a primary colorectal cancer</li><li>Q->H at 542: in a primary colorectal cancer</li><li>A->G at 545: in a primary colorectal cancer: in dbSNP rsrs34114147</li><li>A->V at 545: in a primary colorectal cancer</li>	<li>transcription</li><li>localization</li>	<li>GO:0006350</li><li>GO:0051179</li>	DNA-binding	GO:0003677					<li>rs34114147</li><li>rs1127312</li>	3
O75436	9559	<ul><li>IM->DD at 235-236: Abolishes interaction with VPS35 and endosomal subcellular location</li></ul>								<li>P34110</li><li>Q96QK1</li><li>Q2HJG5</li>			1
O75449	11104	<ul><li>K->A at 255: Abolishes ATP dependent microtubule severing activity and localization to spindle poles</li><li>D->N at 308: Abolishes ATP dependent microtubule severing activity and localization to spindle poles; when associated with N-309</li><li>E->N at 309: Abolishes ATP dependent microtubule severing activity and localization to spindle poles; when associated with N-308</li></ul>		localization	GO:0051179			<li>spindle poles</li><li>microtubule</li>	<li>GO:0000922</li><li>GO:0005874</li>				1
O75460	2081	<ul><li>C->S at 109: No effect on dimerization</li><li>C->S at 148: No effect on dimerization. Weakens dimer; when associated with S-148</li><li>C->S at 332: No effect on dimerization. Weakens dimer; when associated with S-332</li><li>K->A at 599: Loss of autophosphorylation and of endoribonuclease activity. Inhibition of growth arrest</li></ul>	<li>N->S at 244: in a renal clear cell carcinoma sample; somatic mutation</li><li>V->M at 418: in dbSNP:rs55869215</li><li>L->R at 474: in a lung adenocarcinoma sample; somatic mutation</li><li>R->W at 635: in a gastric adenocarcinoma sample; somatic mutation</li><li>N->S at 700</li><li>S->F at 769: in a glioblastoma multiforme sample; somatic mutation</li><li>P->L at 830: in an ovarian serous carcinoma sample; somatic mutation</li>	autophosphorylation	GO:0046777					<li>O75460</li><li>Q9EQY0</li><li>Q9Z2E3</li><li>Q76MJ5</li><li>P32361</li><li>Q09499</li>		rs55869215	3
O75461	1876	<ul><li>L->E at 68: Reduction in repressor activity, little effect on S-phase entry</li></ul>		S-phase	GO:0051320								1
O75475	11168	<ul><li>I->A at 365: Loss of interaction with human HIV-1 integrase</li><li>D->A,N at 366: Loss of interaction with human HIV-1 integrase</li><li>F->A at 406: Loss of interaction with human HIV-1 integrase</li><li>V->A at 408: Reduced interaction with human HIV-1 integrase</li></ul>											1
O75506	3281	<ul><li>V->K at 16: Loss of interaction with HSF1; in association with K-19</li><li>L->K at 19: Loss of interaction with HSF1; in association with K-16</li><li>I->K at 45: Loss of interaction with HSF1; in association with K-48</li><li>L->K at 48: Loss of interaction with HSF1; in association with K-45</li></ul>								<li>P41151</li><li>Q08DJ8</li><li>P10961</li><li>P38529</li><li>Q00613</li>			1
O75525	10656	<ul><li>Missing at 212-251: Complete loss of SIAH1-mediated degradation</li><li>Missing at 327-346: Complete loss of nuclear sublocalization</li></ul>								Q8IUQ4			1
O75530	8726	<ul><li>I->N at 193: Impairs interaction with EZH2</li><li>L->P at 196: Impairs interaction with EZH2</li><li>ST->AA at 300-301: Impairs interaction with the matrix protein MA of HIV-1</li><li>HRNY->AAAA at 305-308: Impairs interaction with the matrix protein MA of HIV-1</li></ul>								<li>P04876</li><li>P06166</li><li>P13844</li><li>P19718</li><li>P30026</li><li>P22046</li><li>P29990</li><li>P29991</li><li>P04888</li><li>Q88428</li><li>P25223</li><li>P09732</li><li>P25224</li><li>P03419</li><li>P25058</li><li>P41358</li><li>Q15910</li><li>P18356</li><li>P03344</li><li>P06503</li><li>P06502</li><li>P32886</li><li>Q9YRV3</li><li>P52637</li><li>P03426</li><li>P12446</li><li>P31035</li><li>P19692</li><li>P26034</li><li>P07564</li><li>Q89277</li><li>O12705</li><li>P36355</li><li>P06942</li><li>P36356</li><li>P06943</li><li>P16629</li><li>Q9YNA8</li><li>P27019</li><li>Q074N0</li><li>P16628</li><li>P18611</li><li>P12823</li><li>P24615</li><li>Q6DV88</li><li>P11206</li><li>P25182</li><li>Q01427</li><li>P06935</li><li>P27020</li><li>P63117</li><li>P27912</li><li>P27913</li><li>P27910</li><li>P17763</li><li>P27915</li><li>O57299</li><li>P08325</li><li>P06446</li><li>P62690</li><li>P07873</li><li>P03519</li><li>Q9UKH8</li><li>P33515</li><li>P35976</li><li>P03314</li><li>P63145</li><li>P29165</li><li>Q88266</li><li>P27287</li><li>P31620</li><li>Q66112</li><li>P17748</li><li>P13616</li><li>P05769</li><li>O18559</li><li>P19110</li><li>Q04538</li><li>P27395</li><li>P24266</li><li>P63130</li><li>Q91B74</li><li>Q9IK90</li><li>Q01299</li><li>P33478</li><li>O89341</li><li>P07720</li><li>P33482</li><li>Q7LDI9</li><li>P08671</li><li>P27663</li><li>Q96PI4</li><li>Q6J3P1</li><li>P09866</li><li>Q1X880</li><li>P14340</li><li>P14403</li><li>Q1X881</li><li>Q84131</li><li>P87889</li><li>P87577</li><li>P06157</li><li>P29983</li><li>P29984</li><li>Q9HDB9</li><li>P63126</li><li>P22338</li><li>P16287</li><li>P63128</li><li>Q98803</li><li>P29837</li><li>P29838</li><li>P62684</li><li>P35947</li><li>P62685</li><li>P62683</li><li>P15200</li><li>Q9NRZ4</li><li>P62689</li><li>Q9JAF2</li><li>P14336</li><li>P14335</li>			1
O75531	8815	<ul><li>S->A at 4: Complete loss of phosphorylation</li><li>S->E at 4: Complete loss of phosphorylation and mislocalization of EMD in nucleus</li><li>K->A at 6: Complete loss of LEMD3/MAN1 and histone H1/H3 binding</li><li>K->E at 6: Complete loss of dsDNA and LEMD3/MAN1 binding</li><li>R->A at 8: Enhances histone H1/H3 binding</li><li>R->E at 8: Complete loss of LEMD3/MAN1 binding</li><li>D->A at 9: Reduces binding to dsDNA, LEMD3/MAN1 and histone H1/H3</li><li>P->A at 14: No effect on LEMD3/MAN1 and enhances histone H1/H3 binding</li><li>K->A at 18: No effect on histone H1/H3 binding</li><li>G->E at 25: Complete loss of dsDNA, EMD, histone H1/H3 and LEMD3/MAN1 binding</li><li>G->Q at 25: Complete loss of EMD binding and reduces dsDNA binding</li><li>I->A at 26: Reduces histone H1/H3 and LEMD3/MAN1 binding. Fails to promote HIV-1 genome integration</li><li>I->K at 26: Fails to promote HIV-1 genome integration</li><li>G->E at 27: Fails to bind dsDNA</li><li>G->Q at 27: Reduces binding to dsDNA</li><li>V->A at 29: No effect on histone H1/H3 binding</li><li>K->E at 32: No effect on histone H1/H3 binding</li><li>K->E at 33: No effect on histone H1/H3 binding</li><li>R->A at 37: No effect on histone H1/H3 binding</li><li>R->E at 37: Reduces LEMD3/MAN1 binding</li><li>K->A at 41: No effect on histone H1/H3 and LEMD3/MAN1 binding</li><li>K->E at 41: Reduces histone H1/H3 binding</li><li>L->E at 46: Complete loss of dsDNA, histone H1/H3 and LEMD3/MAN1 binding</li><li>G->E at 47: Complete loss of EMD, histone H1/h3 and LEMD3/MAN1 binding</li><li>L->A at 50: Reduces LEMD3/MAN1 binding. No effect on Histone H1/H3 binding</li><li>L->K at 50: Fails to promote HIV-1 genome integration</li><li>V->E at 51: Complete loss of EMD, and histone H1/H3 binding. Reduces dsDNA and LEMD3/MAN1 binding</li><li>K->A at 53: No effect on LEMD3/MAN1 binding. Enhances histone H1/H3 binding</li><li>K->E at 53: Complete loss of EMD binding. Reduces LEMD3/MAN1 binding. Enhances histone H1/H3 binding</li><li>K->A at 54: Reduces LEMD3/MAN1 binding. No effect on histone H1/H3 binding</li><li>K->E at 54: Reduces binding to dsDNA</li><li>R->E at 60: No effect on histone H1/H3 binding</li><li>W->A at 62: Complete loss of LEMD3/MAN1 binding. Enhances histone H1/H3 binding</li><li>K->E at 64: Enhances histone H1/H3 binding</li><li>R->E at 75: Reduces binding to dsDNA. No effect on histone H1/H3 binding</li><li>C->A at 80: No effect on histone H1/H3 and LEMD3/MAN1 binding</li><li>R->E at 82: No effect on histone H1/H3 binding</li></ul>		phosphorylation	GO:0016310	binding	GO:0005488	nucleus	GO:0005634	<li>Q9HFU4</li><li>P06350</li><li>P12305</li><li>P08283</li><li>P23444</li><li>P09426</li><li>P02255</li><li>Q9UV33</li><li>Q9P8F8</li><li>Q8J0U2</li><li>P09987</li><li>P15868</li><li>P21895</li><li>Q9M5W4</li><li>P10156</li><li>P50402</li><li>P84408</li><li>P17268</li><li>Q75C22</li><li>P37218</li><li>P54671</li><li>P27806</li><li>P35060</li><li>P02254</li><li>Q9Y2U8</li><li>P53551</li><li>Q6FJX6</li><li>P40267</li>			1
O75533	23451	<ul><li>T->A at 223: No effect on interaction with PPP1R8</li><li>T->A at 227: No effect on interaction with PPP1R8</li><li>T->A at 235: No effect on interaction with PPP1R8</li><li>T->A at 244: Slight inhibition of interaction with PPP1R8</li><li>T->A at 248: Slight inhibition of interaction with PPP1R8</li><li>T->A at 257: No effect on interaction with PPP1R8</li><li>T->A at 261: Slight inhibition of interaction with PPP1R8</li><li>T->A at 267: No effect on interaction with PPP1R8</li><li>T->A at 273: No effect on interaction with PPP1R8</li><li>T->A at 278: No effect on interaction with PPP1R8</li><li>T->A at 296: No effect on interaction with PPP1R8</li><li>T->A at 303: No effect on interaction with PPP1R8</li><li>T->A at 313: No effect on interaction with PPP1R8</li></ul>								<li>Q12972</li><li>Q28147</li>			1
O75582	9252	<ul><li>D->A at 195: Loss of kinase activity</li><li>S->A at 212: Inactives the N-terminal kinase domain</li><li>S->A at 360: Decreases kinase activity by 60% in response to PMA and UV-C</li><li>S->A at 376: Loss of kinase activity, and decreases the phosphorylation of S-360 and T-581</li><li>D->A at 565: Loss of kinase activity</li><li>T->A at 581: Loss of kinase activity, and blocks phosphorylation of S-212; S-376 and S-381 in response to PMA and UV-C</li></ul>	<li>H->R at 190: in dbSNP:rs34699345</li><li>D->N at 554: in dbSNP rsrs55911249</li><li>P->L at 574: in dbSNP rsrs34604933</li><li>Y->C at 599: in dbSNP rsrs55968863</li>	phosphorylation	GO:0016310	kinase activity	GO:0016301					<li>rs55968863</li><li>rs34699345</li><li>rs34604933</li><li>rs55911249</li>	3
O75593	8928	<ul><li>H->R at 83: Loss of activity</li></ul>	<li>S->T at 113: in colorectal cancer</li><li>T->S at 125: in colorectal cancer</li>										3
O75628	28954	<ul><li>T->N at 94: No endothelial cell sprouting</li></ul>	<li>H->R at 28: in dbSNP:rs1006459</li><li>P->A at 59: in dbSNP:rs2233829</li>									<li>rs2233829</li><li>rs1006459</li>	3
O75648	55687	<ul><li>D->A at 16: Loss of activity</li></ul>	<li>A->S at 10: decreased activity; dbSNP:rs11090865</li><li>R->S at 25: in dbSNP:rs2272938</li><li>E->K at 148: in dbSNP:rs34012206</li><li>R->C at 398: in dbSNP:rs34152016</li>									<li>rs11090865</li><li>rs34012206</li><li>rs34152016</li><li>rs2272938</li>	3
O75689	11033	<ul><li>C->A at 21: Loss of GTPase-activating activity</li><li>C->A at 24: Loss of GTPase-activating activity</li><li>R->C at 149: 40-45% reduction in PtdInsP2 3-kinase dependent membrane localization. Almost complete loss of PtdInsP2 3-kinase dependent membrane localization; when associated with C-273</li><li>R->C at 273: 70% reduction in PtdInsP2 3-kinase dependent membrane localization. Almost complete loss of PtdInsP2 3-kinase dependent membrane localization; when associated with C-149</li></ul>	<li>G->S at 241: in dbSNP:rs10256887</li>	localization	GO:0051179			membrane	GO:0016020			rs10256887	3
O75695	6102	<ul><li>G->A at 2: Loss of membrane association</li><li>C->S at 3: Targeting to internal membranes. Loss of targeting to the plasma membrane</li></ul>	<li>Missing  at 6: in RP2; loss of membrane association; enhances interaction with ARL3</li><li>C->Y at 67: in RP2, MIM: 312600</li><li>C->Y at 86: in RP2, MIM: 312600</li><li>P->L at 95: in RP2; uncertain pathogenicity, MIM: 312600</li><li>C->G at 108: in RP2, MIM: 312600</li><li>R->C at 118: in RP2, MIM: 312600</li><li>R->H at 118: in RP2; reduces affinity for ARL3 800-fold; loss of stimulation of tubulin GTPase activity; no effect on subcellular location, MIM: 312600</li><li>R->L at 118: in RP2: in dbSNP rsrs28933687, MIM: 312600</li><li>Missing  at 137: in RP2, MIM: 312600</li><li>E->G at 138: in RP2; reduces affinity for ARL3 150-fold, MIM: 312600</li><li>K->R at 144: in dbSNP:rs3126141, MIM: 312600</li><li>L->P at 188: in RP2, MIM: 312600</li><li>L->R at 253: in RP2, MIM: 312600</li><li>R->W at 282: might play a role in retinitis pigmentosa 2; reduces affinity for ARL3 3-fold; dbSNP:rs1805147, MIM: 312600</li><li>D->Y at 338: in dbSNP:rs1805148, MIM: 312600</li>			GTPase activity	GO:0003924	<li>tubulin</li><li>plasma membrane</li><li>membrane</li>	<li>GO:0045298</li><li>GO:0005886</li><li>GO:0016020</li>	<li>P10664</li><li>Q2TBW6</li><li>Q5ZHN4</li><li>P36405</li><li>O75695</li><li>Q02804</li><li>P49626</li>	Retinitis pigmentosa type 2 (RP2) [MIM:312600]	<li>rs28933687</li><li>rs3126141</li><li>rs1805148</li><li>rs1805147</li>	3
O75716	8576	<ul><li>G->A at 2: Loss of myristoylation</li><li>C->S at 6: Loss of palmitoylation</li><li>C->S at 8: Loss of palmitoylation</li></ul>	<li>H->R at 41: in dbSNP rsrs34799131</li><li>E->K at 55: in dbSNP rsrs35947471</li><li>I->V at 77: in dbSNP rsrs34282267</li><li>R->W at 266: in dbSNP:rs17849638</li><li>P->L at 277: in dbSNP rsrs35454203</li>									<li>rs17849638</li><li>rs35454203</li><li>rs34282267</li><li>rs34799131</li><li>rs35947471</li>	3
O75807	23645	<ul><li>KVRF->AAAA at 555-558: Reduces interaction with SMARCB1</li><li>VRF->ARA at 556-558: Impairs PP1 activation</li><li>R->K at 612: Reduces PP1-binding; when associated with K-614</li><li>R->K at 614: Reduces PP1-binding; when associated with K-612</li><li>R->D at 618: Reduces PP1-binding</li></ul>	<li>R->H at 31: in dbSNP:rs564196</li><li>A->T at 32: in dbSNP:rs3786734</li><li>V->A at 199: in dbSNP:rs611251</li><li>R->P at 251: in dbSNP:rs557806</li><li>K->E at 277: in dbSNP:rs610308</li><li>A->P at 316: in dbSNP:rs556052</li><li>A->V at 381: in dbSNP:rs1050166</li><li>R->S at 476: in dbSNP:rs35087747</li><li>R->C at 594: in dbSNP:rs2270946</li><li>T->A at 597: in dbSNP:rs500079</li>			binding	GO:0005488			<li>P48488</li><li>P80074</li><li>Q63447</li><li>Q12824</li><li>P30366</li><li>P50391</li><li>Q61041</li><li>P48487</li><li>O42467</li><li>P22198</li><li>Q5BIN2</li><li>Q5ZK40</li>		<li>rs610308</li><li>rs564196</li><li>rs35087747</li><li>rs611251</li><li>rs500079</li><li>rs557806</li><li>rs1050166</li><li>rs556052</li><li>rs2270946</li><li>rs3786734</li>	3
O75843	8906	<ul><li>L->G at 369: Greatly diminishes interaction with ubiquitin; when associated with G-372</li><li>A->G at 372: Greatly diminishes interaction with ubiquitin; when associated with G-369</li><li>A->G at 372: Greatly diminishes interaction with ubiquitin; when associated with G-376</li><li>S->G at 376: Greatly diminishes interaction with ubiquitin; when associated with G-372</li></ul>	<li>S->F at 377: in dbSNP:rs12897422</li>							<li>P69326</li><li>P08565</li><li>P69322</li><li>P69323</li><li>P69324</li><li>P69325</li><li>P68196</li><li>O46543</li><li>P68197</li><li>Q05550</li><li>P68198</li><li>P68199</li><li>P19848</li><li>P68195</li><li>P42739</li><li>Q867C2</li><li>P62991</li><li>P62990</li><li>P61863</li><li>P61864</li><li>P61862</li><li>Q867C4</li><li>Q867C3</li><li>P23398</li><li>P68204</li><li>P84589</li><li>Q865C5</li><li>P42740</li><li>P68201</li><li>Q8MKD1</li><li>P14792</li><li>P63049</li><li>P0C072</li><li>P63051</li><li>P69308</li><li>P69309</li><li>P20685</li><li>P15174</li><li>P62976</li><li>P62977</li><li>P62974</li><li>P62975</li><li>P62972</li><li>P13117</li><li>P14624</li><li>P62973</li><li>P46574</li><li>P69310</li><li>P69313</li><li>P69314</li><li>P69311</li><li>P69312</li><li>P08618</li><li>P69317</li><li>P69318</li><li>P0C014</li><li>P69315</li><li>P69316</li><li>P59263</li><li>P69319</li><li>P49634</li><li>P49635</li><li>P22589</li><li>Q9Y848</li><li>P62988</li><li>P62989</li><li>P23324</li><li>P69321</li><li>P69320</li><li>P59669</li>		rs12897422	3
O75884	10741	<ul><li>L->Q at 63: Loss of retinoblastoma protein binding</li></ul>				protein binding	GO:0005515						1
O75888	8741	<ul><li>RKRR->AKRA at 101-104: Abolishes proteolytic processing</li></ul>	<li>G->R at 67: in dbSNP:rs11552708</li><li>N->S at 96: in dbSNP:rs3803800</li>									<li>rs11552708</li><li>rs3803800</li>	3
O75900	8510	<ul><li>R->G at 78: Abolishes processing of soluble form</li></ul>	<li>F->L at 91: in dbSNP:rs1139033</li>									rs1139033	3
O75923	8291	<ul><li>V->D at 67: Reduces calcium-sensitive phospholipid binding and interaction with AHNAK and AHNAK2</li></ul>	<li>A->E at 170: in isolated hyperCKemia: in dbSNP rsrs34999029</li><li>L->V at 189: in dbSNP:rs13407355</li><li>R->W at 253: in isolated hyperCKemia</li><li>L->P at 266: in pseudometabolic myopathy</li><li>G->E at 299: in MM, MIM: 254130</li><li>C->W at 456: in MM, MIM: 254130</li><li>R->W at 555: in LGMD2B and MM, MIM: 254130</li><li>P->R at 791: in MM and LGMD2B, MIM: 254130</li><li>I->V at 834: in dbSNP:rs34671418, MIM: 254130</li><li>R->W at 959: in LGMD2B, MIM: 253601</li><li>R->Q at 1022: in dbSNP:rs34211915, MIM: 253601</li><li>R->Q at 1038: in LGMD2B, MIM: 253601</li><li>R->H at 1046: in MM; dbNP:28939700: in dbSNP rsrs28939700, MIM: 254130</li><li>E->EAE at 1065, MIM: 254130</li><li>A->P at 1072: in dbSNP:rs34660230, MIM: 254130</li><li>I->M at 1208: in LGMD2B, MIM: 253601</li><li>R->H at 1242: in dbSNP:rs2303603, MIM: 253601</li><li>L->V at 1276: in proximodistal myopathy, MIM: 253601</li><li>I->V at 1298: in MM and LGMD2B, MIM: 254130</li><li>I->M at 1325: in a breast cancer sample; somatic mutation, MIM: 254130</li><li>R->L at 1331, MIM: 254130</li><li>E->K at 1335: in LGMD2B, MIM: 253601</li><li>L->V at 1349: in a breast cancer sample; somatic mutation, MIM: 253601</li><li>N->S at 1351, MIM: 253601</li><li>R->Q at 1693: in MM, MIM: 254130</li><li>E->V at 1748, MIM: 254130</li><li>H->R at 1857: in MM, MIM: 254130</li><li>R->Q at 2000: in MM, MIM: 254130</li><li>R->C at 2042: in MM and LGMD2B, MIM: 254130</li>			phospholipid binding	GO:0005543			Q09666	<li>Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]</li><li>Miyoshi myopathy (MM) [MIM:254130]</li>	<li>rs28939700</li><li>rs2303603</li><li>rs34671418</li><li>rs34660230</li><li>rs13407355</li><li>rs34999029</li><li>rs34211915</li>	3
O75925	8554	<ul><li>C->A,S at 351: Loss of UBE2I-binding; almost complete loss of promotion of TP53 sumoylation; no loss of SUMO1- and TP53-binding</li></ul>		sumoylation	GO:0016925	binding	GO:0005488			<li>Q9TUB2</li><li>Q2EF74</li><li>Q2EF73</li><li>Q5R6J4</li><li>P56423</li><li>P56424</li><li>P55857</li><li>O12946</li><li>P25035</li><li>Q5E9D1</li><li>O36006</li><li>Q64662</li><li>O57538</li><li>P63279</li><li>P10360</li><li>P61260</li><li>Q9MZD5</li><li>Q9W679</li><li>Q9W678</li><li>P13481</li><li>Q9TTA1</li><li>Q95330</li><li>O93379</li><li>P41685</li><li>Q8SPZ3</li><li>P79820</li><li>Q92143</li><li>P63165</li><li>Q29537</li><li>P04637</li><li>Q29480</li><li>O09185</li><li>P63283</li><li>O09181</li><li>Q00366</li><li>P79892</li><li>P51664</li><li>P67939</li><li>Q9WUR6</li><li>P67938</li>			1
O75928	9063	<ul><li>C->S,A at 362: Loss of MDM2 and TP53 sumoylation and of autosumoylation; no loss of JUN- and TP53-binding</li><li>V->A at 467: Reduces affinity for SUMO1</li><li>V->A at 469: Abolishes binding to SUMO1</li><li>I->A at 470: Abolishes binding to SUMO1</li><li>L->A at 472: Abolishes binding to SUMO1</li><li>T->A at 473: Reduces affinity for SUMO1</li></ul>		sumoylation	GO:0016925	binding	GO:0005488			<li>Q9TUB2</li><li>Q2EF74</li><li>Q5R6J4</li><li>P56423</li><li>P56424</li><li>P55857</li><li>O12946</li><li>P05411</li><li>P25035</li><li>Q00987</li><li>Q5E9D1</li><li>O36006</li><li>Q64662</li><li>P56950</li><li>O57538</li><li>Q7YRZ8</li><li>P10360</li><li>P56951</li><li>P61260</li><li>Q9MZD5</li><li>O77627</li><li>Q9W679</li><li>Q9W678</li><li>P13481</li><li>Q9TTA1</li><li>P18870</li><li>Q95330</li><li>O93379</li><li>P12981</li><li>P41685</li><li>Q8SPZ3</li><li>P79820</li><li>Q92143</li><li>P63165</li><li>P54864</li><li>P04637</li><li>Q29537</li><li>Q29480</li><li>Q60524</li><li>P05412</li><li>O09185</li><li>P56432</li><li>Q00366</li><li>P79892</li><li>P51664</li><li>P67939</li><li>Q9WUR6</li><li>P67938</li>			1
O75943	5884	<ul><li>K->E at 143: Impairs phosphorylation on S-656. Abolishes interaction with the RAD1-RAD9-HUS1 complex; does not affect interaction with RFC3</li><li>K->G at 143: Impairs phosphorylation. Impairs interaction with DNA and the RAD1-RAD9-HUS1 complex; does not affect interaction with RFC3</li><li>S->A at 191: No effect on phosphorylation by ATR</li><li>S->A at 646: Reduces by 50% phosphorylation by ATR, and abolishes interaction with RAD1. Abolishes phosphorylation by ATR and checkpoint activation without affecting interaction with RFC3, RFC4, ATM or ATR; when associated with A-656</li><li>S->D at 646: Abolishes interaction with RAD1; when associated with D-656</li><li>S->A at 656: Reduces by 50% phosphorylation by ATR, and abolishes interaction with RAD1. Abolishes phosphorylation by ATR and checkpoint activation without affecting interaction with RFC3, RFC4, ATM or ATR; when associated with A-646</li><li>S->D at 656: Abolishes interaction with RAD1; when associated with D-646</li></ul>	<li>V->I at 32: in dbSNP:rs17229831</li><li>R->L at 487: in dbSNP:rs17236478</li><li>K->E at 535: in dbSNP:rs17236485</li><li>L->R at 557: in dbSNP:rs1045051</li>	phosphorylation	GO:0016310					<li>P14737</li><li>P38629</li><li>Q6PQD5</li><li>P55043</li><li>P55042</li><li>O74111</li><li>Q5R7X9</li><li>P35249</li><li>Q9M3G7</li><li>P40339</li><li>P20848</li><li>Q13315</li><li>Q2TBV1</li><li>P06777</li><li>Q13535</li><li>O60921</li><li>Q9H6X2</li><li>Q9FKS4</li><li>P40938</li><li>O60671</li><li>Q9LKI5</li>		<li>rs1045051</li><li>rs17229831</li><li>rs17236485</li><li>rs17236478</li>	3
O75952	26256	<ul><li>T->A at 146: Does not affect phosphorylation</li><li>T->A at 151: Decreases phosphorylation. Abolishes phosphorylation; when associated with A-155</li><li>S->A at 154: Does not affect phosphorylation. Does not affect phosphorylation; when associated with A-159</li><li>S->A at 155: Decreases phosphorylation and interaction with GSK3B. Abolishes phosphorylation and decreases interaction with GSK3B; when associated with A-151</li><li>T->A at 159: Does not affect phosphorylation. Does not affect phosphorylation; when associated with A-154</li></ul>	<li>T->M at 74: in dbSNP:rs3786417</li><li>I->V at 186: in dbSNP:rs35118855</li><li>K->R at 448: in dbSNP:rs1049682</li><li>S->A at 490: in dbSNP:rs1049683</li>	phosphorylation	GO:0016310					<li>Q5YJC2</li><li>P49841</li>		<li>rs35118855</li><li>rs1049683</li><li>rs3786417</li><li>rs1049682</li>	3
O75962	7204	<ul><li>E->A at 1240: 50% decrease in nucleotide exchange activity</li><li>T->A at 1244: 40% decrease in nucleotide exchange activity</li><li>N->A at 1330: No change in nucleotide exchange activity</li><li>V->A at 1367: 90% decrease in nucleotide exchange activity</li><li>Q->A at 1368: 80% decrease in nucleotide exchange activity</li><li>R->A at 1369: 80% decrease in nucleotide exchange activity</li><li>T->A at 1371: 80% decrease in nucleotide exchange activity</li><li>K->A at 1372: Loss of nucleotide exchange activity</li><li>L->A at 1375: 40% decrease in nucleotide exchange activity</li><li>K->A at 1378: No change in nucleotide exchange activity</li><li>E->A at 1379: 30% decrease in nucleotide exchange activity</li></ul>	<li>S->T at 232</li><li>T->M at 1585</li><li>H->R at 1631</li><li>V->M at 1919: in a metastatic melanoma sample; somatic mutation</li><li>T->M at 2183</li>										3
O75969	10566	<ul><li>L->P at 131: Abolishes interaction with ROPN1</li></ul>	<li>R->C at 831: in a colorectal cancer sample; somatic mutation</li>										3
O75970	8777	<ul><li>GLGF->PSES at 147-150: Loss of interaction with CAMK2A</li></ul>								<li>Q5RCC4</li><li>Q9UQM7</li>			1
O75971	10302	<ul><li>L->A at 8: Reduced SNAPC4 binding in both the presence or absence of SNAPC1</li><li>L->A at 18: Minimal effect on SNAPC4 binding in the absence of SNAPC1. Reduced SNAPC4 binding in the presence of SNAPC1</li></ul>				binding	GO:0005488			<li>Q16533</li><li>Q4R6W9</li><li>Q5SXM2</li>			1
O76064	9025	<ul><li>R->A at 42: Abolishes interaction with ATM-phosphorylated MDC1</li><li>C->S at 403: Marked reduction of E2-dependent ubiquitination of histone H2A. Loss of UBE2E2- and UBE2N-binding. Loss of nuclear localization</li></ul>	<li>A->T at 162: in dbSNP:rs34338974</li><li>I->V at 473: in dbSNP:rs1139944</li>	localization	GO:0051179	<li>binding</li><li>E2</li>	<li>GO:0005488</li><li>GO:0004840</li>			<li>Q6PQD5</li><li>Q6WV67</li><li>Q6WV66</li><li>Q6WV69</li><li>Q8X132</li><li>O13413</li><li>Q9M531</li><li>P27325</li><li>O74268</li><li>P02264</li><li>Q6C4I6</li><li>P21896</li><li>Q767L8</li><li>Q8SSG3</li><li>Q6PV61</li><li>Q8I0T3</li><li>P02269</li><li>Q7YR40</li><li>P02268</li><li>P59890</li><li>Q14676</li><li>P35061</li><li>P35066</li><li>Q9HGX4</li><li>Q96LR5</li><li>Q2U5A8</li><li>P02270</li><li>Q4R4I1</li><li>P13912</li><li>P40280</li><li>Q5R7J6</li><li>Q6WV88</li><li>Q9M3G7</li><li>P55897</li><li>P40279</li><li>Q13315</li><li>Q6CK59</li><li>P84056</li><li>P84055</li><li>P84057</li><li>P84052</li><li>P50567</li><li>P84051</li><li>P84054</li><li>P84053</li><li>P82897</li><li>P19178</li><li>P19177</li><li>Q4HTT1</li><li>Q5KMT5</li><li>P61088</li><li>Q5G578</li><li>Q5TM68</li><li>Q4WWC6</li><li>Q875B8</li><li>P40282</li><li>P08844</li><li>P09588</li><li>Q4PEF9</li><li>P13630</li>		<li>rs1139944</li><li>rs34338974</li>	3
O76082	6584	<ul><li>M->R at 352: Loss of both carnitine and organic cation transport functionalities</li></ul>	<li>F->L at 17: in dbSNP rsrs11568520</li><li>L->F at 144: in dbSNP:rs10040427</li><li>R->Q at 169: in CDSP, MIM: 212140</li><li>M->L at 179: in CDSP, MIM: 212140</li><li>Y->C at 211: in CDSP: in dbSNP rsrs28939705, MIM: 212140</li><li>W->C at 283: in CDSP; reduces L-carnitine uptake, MIM: 212140</li><li>W->R at 283: in CDSP, MIM: 212140</li><li>V->F at 446: in CDSP, MIM: 212140</li><li>Y->D at 449: in dbSNP:rs11568514, MIM: 212140</li><li>E->K at 452: in CDSP, MIM: 212140</li><li>S->C at 467: in CDSP; reduces L-carnitine uptake: in dbSNP rsrs60376624, MIM: 212140</li><li>P->L at 478: in CDSP; loss of carnitine transport but stimulated organic cation transport, MIM: 212140</li><li>V->F at 481: in dbSNP rsrs11568513, MIM: 212140</li><li>V->I at 481: in dbSNP rsrs11568513, MIM: 212140</li><li>F->L at 508: in dbSNP rsrs11568521, MIM: 212140</li><li>M->V at 530: in dbSNP rsrs11568524, MIM: 212140</li><li>P->S at 549: in dbSNP:rs11568525, MIM: 212140</li>	<li>organic cation transport</li><li>carnitine transport</li>	<li>GO:0015695</li><li>GO:0015879</li>						Systemic primary carnitine deficiency (CDSP) [MIM:212140]	<li>rs11568521</li><li>rs11568524</li><li>rs11568525</li><li>rs60376624</li><li>rs11568520</li><li>rs10040427</li><li>rs11568514</li><li>rs28939705</li><li>rs11568513</li>	3
O94759	7226	<ul><li>M->I at 1397: Only slight effect on activity</li></ul>	<li>N->K at 52: in dbSNP rsrs45625933</li><li>V->I at 166: in dbSNP rsrs45544142</li><li>V->M at 385: in dbSNP rsrs45485992</li><li>D->E at 543: in dbSNP:rs1556314</li><li>D->E at 780: in dbSNP rsrs9974927</li><li>Q->R at 1189: in dbSNP rsrs9978351</li><li>R->W at 1199: in dbSNP rsrs45611537</li><li>S->G at 1201: in dbSNP rsrs45519835</li><li>N->S at 1249: in dbSNP rsrs45513700</li><li>T->M at 1347: in dbSNP rsrs45589233</li><li>E->K at 1359: in dbSNP rsrs45570639</li><li>I->M at 1368: in dbSNP rsrs45613636</li><li>A->S at 1438: in dbSNP rsrs45578242</li>									<li>rs45519835</li><li>rs45613636</li><li>rs45589233</li><li>rs45544142</li><li>rs45611537</li><li>rs45513700</li><li>rs45625933</li><li>rs45485992</li><li>rs45570639</li><li>rs9974927</li><li>rs9978351</li><li>rs1556314</li><li>rs45578242</li>	3
O94766	26229	<ul><li>C->A at 33: Loss of dimer formation and reduced activity</li><li>C->A at 301: Enzyme inactivation and loss of glycosylation</li></ul>											1
O94768	9262	<ul><li>K->A at 62: Loss of activity and of apoptotic function</li></ul>	<li>S->F at 320: in dbSNP rsrs34740616</li>									rs34740616	3
O94782	7398	<ul><li>C->S at 90: Loss of catalytic activity including autolysis</li><li>GG->AA at 670-671: Loss of autolysis-mediated degradation upon UV irradiation. No effect on catalytic activity</li></ul>				catalytic activity	GO:0003824						1
O94810	8786	<ul><li>S->A at 245: Diminishes interaction with Gbeta5</li><li>W->F at 274: Diminishes interaction with Gbeta5</li></ul>	<li>M->T at 427: in dbSNP:rs739999</li>							<li>O14775</li><li>Q6PNB6</li><li>P62881</li><li>Q5RDY7</li><li>Q80ZD0</li><li>P62882</li>		rs739999	3
O94830	23259	<ul><li>S->A at 351: Abolishes phospholipase activity</li></ul>	<li>T->M at 186: in dbSNP:rs2306899</li>			phospholipase activity	GO:0004620					rs2306899	3
O94905	11160	<ul><li>N->Q at 106: Loss of glycosylation</li></ul>											1
O94985	22883	<ul><li>NP->AA at 913-914: Abolishes interaction with APBA2</li><li>Y->A at 918: No effect on APBA2-binding</li></ul>	<li>A->T at 332: in dbSNP:rs7550295</li><li>V->A at 474: in dbSNP:rs17853245</li><li>S->C at 524: in dbSNP:rs17853244</li><li>P->R at 583: in dbSNP:rs17853243</li><li>P->H at 857: in dbSNP:rs17855572</li><li>F->S at 870: in dbSNP:rs17855573</li>			binding	GO:0005488			<li>Q99767</li><li>Q5RD33</li>		<li>rs17855573</li><li>rs17855572</li><li>rs17853245</li><li>rs17853244</li><li>rs17853243</li><li>rs7550295</li>	3
O94992	10614	<ul><li>KHRR->ILAA at 152-155: Abolishes interaction with 7SK snRNA</li><li>RRR->AAA at 154-156: Abolishes interaction with 7SK snRNA</li><li>Y->D at 203: Abolishes interaction with P-TEFb; when associated with D-205</li><li>T->D at 205: Abolishes interaction with P-TEFb. Same effect; when associated with D-203</li><li>F->A,D,K at 208: Partial loss of function</li><li>Y->A,E at 271: Loss of function</li><li>L->A at 287: Loss of oligomerization; when associated with A-294; A-332 and A-339. Loss of function and interaction with P-TEFb; when associated with A-294</li><li>L->A at 294: Loss of oligomerization; when associated with A-287; A-332 and A-339. Loss of function and interaction with P-TEFb; when associated with A-287</li><li>L->A at 332: Loss of oligomerization; when associated with A-287; A-294 and A-339</li><li>L->A at 339: Loss of oligomerization; when associated with A-287; A-294 and A-332</li></ul>											1
O95071	51366	<ul><li>C->A at 2768: Loss of ubiquitin binding</li></ul>	<li>S->R at 2150: in dbSNP:rs1062822</li>			binding	GO:0005488			<li>P69326</li><li>P08565</li><li>P69322</li><li>P69323</li><li>P69324</li><li>P69325</li><li>P68196</li><li>O46543</li><li>P68197</li><li>Q05550</li><li>P68198</li><li>P68199</li><li>P19848</li><li>P68195</li><li>P42739</li><li>Q867C2</li><li>P62991</li><li>P62990</li><li>P61863</li><li>P61864</li><li>P61862</li><li>Q867C4</li><li>Q867C3</li><li>P23398</li><li>P68204</li><li>P84589</li><li>Q865C5</li><li>P42740</li><li>P68201</li><li>Q8MKD1</li><li>P14792</li><li>P63049</li><li>P0C072</li><li>P63051</li><li>P69308</li><li>P69309</li><li>P20685</li><li>P15174</li><li>P62976</li><li>P62977</li><li>P62974</li><li>P62975</li><li>P62972</li><li>P13117</li><li>P14624</li><li>P62973</li><li>P46574</li><li>P69310</li><li>P69313</li><li>P69314</li><li>P69311</li><li>P69312</li><li>P08618</li><li>P69317</li><li>P69318</li><li>P0C014</li><li>P69315</li><li>P69316</li><li>P59263</li><li>P69319</li><li>P49634</li><li>P49635</li><li>P22589</li><li>Q9Y848</li><li>P62988</li><li>P62989</li><li>P23324</li><li>P69321</li><li>P69320</li><li>P59669</li>		rs1062822	3
O95140	9927	<ul><li>K->A,T at 109: Does not affect its ability to cluster mitochondria; when overexpressed</li><li>S->N at 110: Does not affect its ability to cluster mitochondria; when overexpressed</li><li>R->L at 259: Does not affect its ability to cluster mitochondria; when overexpressed</li><li>GGV->AAL at 622-624: Does not affect the targeting to mitochondrial outer membrane</li><li>GGV->RRE at 622-624: Abolishes the targeting to mitochondrial outer membrane</li><li>KER->TGV at 657-659: Does not affect the targeting to mitochondrial outer membrane</li></ul>	<li>V->F at 69: in CMT2A2; in a Turkish family: in dbSNP rsrs28940296, MIM: 609260</li><li>L->P at 76: in CMT2A2; in a European family: in dbSNP rsrs28940293, MIM: 609260</li><li>R->Q at 94: in CMT2A2; in a Japanese and Russian kindred: in dbSNP rsrs28940291, MIM: 609260</li><li>R->W at 94: in CMT6, MIM: 601152</li><li>T->I at 206: in CMT6, MIM: 601152</li><li>P->A at 251: in CMT2A2: in dbSNP rsrs28940295, MIM: 609260</li><li>Q->R at 276: in CMT6, MIM: 601152</li><li>R->H at 280: in CMT2A2: in dbSNP rsrs28940294, MIM: 609260</li><li>K->N at 357: in CMT2A2, MIM: 609260</li><li>H->Y at 361: in CMT6, MIM: 601152</li><li>R->W at 364: in CMT6, MIM: 601152</li><li>W->S at 740: in CMT2A2; in a European family: in dbSNP rsrs28940292, MIM: 609260</li>					mitochondrial outer membrane	GO:0005741		<li>Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152]</li><li>Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]</li>	<li>rs28940296</li><li>rs28940295</li><li>rs28940291</li><li>rs28940292</li><li>rs28940293</li><li>rs28940294</li>	3
O95149	10073	<ul><li>R->A at 27: Abolishes interaction with KPNB1 and m3G-cap U1 snRNP import receptor activity</li><li>W->A at 107: Reduces binding to m3G-cap structure, interaction with XPO1 and snRNP import receptor activity</li><li>FRFYW->A at 203-207: Reduces binding to m3G-cap structure</li><li>W->A at 276: Reduces binding to m3G-cap structure, interaction with XPO1 and snRNP import receptor activity</li></ul>				<li>binding</li><li>receptor activity</li>	<li>GO:0005488</li><li>GO:0004872</li>	snRNP	GO:0030532	<li>Q14974</li><li>O14980</li><li>P30822</li>			1
O95155	10277	<ul><li>D->A at 109: Abolishes cleavage by caspase-3 and caspase-7</li><li>D->A at 121: Abolishes cleavage by caspase-6. No effect on cleavage by granzyme B</li><li>D->A at 123: Abolishes cleavage by caspase-6 and granzyme B</li></ul>	<li>V->I at 605: in dbSNP:rs17034499</li>							P18291		rs17034499	3
O95159	7542	<ul><li>C->A at 27: Impairs the interaction with OLGA2/GM130 and cis-Golgi assembly</li><li>C->A at 53: Impairs the interaction with OLGA2/GM130 and cis-Golgi assembly</li></ul>	<li>R->Q at 218: in dbSNP:rs35251366</li>							Q62225		rs35251366	3
O95237	9227	<ul><li>C->A,S at 161: Loss of activity</li><li>C->A at 168: Loss of activity</li><li>C->S at 168: Does not affect activity</li><li>C->A at 182: Does not affect activity</li><li>C->A at 208: Does not affect activity</li></ul>	<li>S->R at 175: in RD; loss of function, MIM: 604863</li>								Severe early-onset retinal dystrophy (RD) [MIM:604863]		3
O95251	11143	<ul><li>C->A at 371: No interaction with MCM2 and ORC1L</li></ul>								<li>P33993</li><li>Q58DC8</li><li>Q9JI69</li><li>P49736</li><li>Q13415</li><li>P29469</li>			1
O95267	10125	<ul><li>R->E at 271: Loss of function; prevents Ras activation</li><li>Y->F at 549: Loss of localization to the endoplasmic reticulum and the Golgi apparatus</li></ul>		localization	GO:0051179			<li>Golgi apparatus</li><li>endoplasmic reticulum</li>	<li>GO:0005794</li><li>GO:0005783</li>	<li>P03967</li><li>Q07152</li><li>P22126</li>			1
O95271	8658	<ul><li>H->A at 1184: Loss of activity; when associated with A-1291</li><li>E->A at 1291: Loss of activity; when associated with A-1184</li></ul>											1
O95278	7957	<ul><li>K->A at 87: Partial loss of phosphatase activity. Abolishes glycogen binding</li><li>D->A at 235: Loss of phosphatase activity. Does not affect glycogen binding</li><li>C->S at 266: Complete loss of phosphatase activity. Does not affect glycogen binding. Does not affect self-interaction. Increases the interaction with PPP1R5</li></ul>	<li>S->P at 25: in EPM2; atypical form; does not affect glycogen binding, MIM: 254780</li><li>E->K at 28: in EPM2; does not affect glycogen binding, MIM: 254780</li><li>W->G at 32: in EPM2; affects phosphatase activity; abolishes glycogen binding; reduced binding to Lafora bodies; disrupts the interaction with PPP1R5; significant protein amount targeted to the nucleus, MIM: 254780</li><li>A->P at 46: does not affect glycogen binding, MIM: 254780</li><li>F->L at 84: in EPM2; affects phosphatase activity and glycogen binding; disrupts the interaction with PPP1R5, MIM: 254780</li><li>F->L at 88: in EPM2; does not affect glycogen binding, MIM: 254780</li><li>R->P at 91: in EPM2; atypical form; learning difficuties with childhood-onset, MIM: 254780</li><li>R->C at 108: in EPM2; loss of phosphatase activity; reduced self-interaction capacity; disrupts the interaction with PPP1R5, MIM: 254780</li><li>E->D at 114, MIM: 254780</li><li>K->N at 140: in EPM2, MIM: 254780</li><li>N->Y at 148: in EPM2, MIM: 254780</li><li>R->H at 171: in EPM2; results in ubiquitin-positive perinuclear aggregates; may affect proper folding, MIM: 254780</li><li>T->A at 187: in EPM2, MIM: 254780</li><li>T->I at 194: in EPM2; results in ubiquitin-positive perinuclear aggregates; loss of phosphatase activity; affects glycogen binding; reduced self-interaction capacity; disrupts the interaction with PPP1R5, MIM: 254780</li><li>E->K at 210: in EPM2, MIM: 254780</li><li>G->S at 240: in EPM2; very slight loss of phosphatase activity; does not affect glycogen binding; disrupts the interaction with PPP1R5, MIM: 254780</li><li>G->S at 279: in EPM2; results in ubiquitin-positive perinuclear aggregates; loss of phosphatase activity; affects glycogen binding; disrupts the interaction with PPP1R5, MIM: 254780</li><li>Q->L at 293: in EPM2; results in ubiquitin-positive perinuclear aggregates; may affect proper folding; loss of phosphatase activity; affects glycogen binding; disrupts the interaction with PPP1R5, MIM: 254780</li><li>Y->N at 294: in EPM2; results in ubiquitin-positive perinuclear aggregates; loss of phosphatase activity; affects glycogen binding; disrupts the interaction with PPP1R5, MIM: 254780</li><li>P->L at 301: in EPM2; loss of phosphatase activity; affects glycogen binding; disrupts the interaction with PPP1R5, MIM: 254780</li><li>L->W at 310: in EPM2; effect limited to the cytoplasmic isoform , MIM: 254780</li>	learning	GO:0007612	binding	GO:0005488	nucleus	GO:0005634	<li>P08565</li><li>Q88A53</li><li>Q7MBF4</li><li>Q5PC82</li><li>P68196</li><li>O46543</li><li>Q821A6</li><li>P68197</li><li>Q05550</li><li>P68198</li><li>P68199</li><li>Q87SK9</li><li>P68195</li><li>Q9I5V3</li><li>Q5F8K9</li><li>P61863</li><li>P61864</li><li>P61862</li><li>P23398</li><li>Q5WT58</li><li>P84589</li><li>Q8MKD1</li><li>Q8P5D4</li><li>P14792</li><li>P63049</li><li>P45269</li><li>Q8ZI64</li><li>Q60CQ4</li><li>P63051</li><li>Q7MAZ9</li><li>Q5P3T0</li><li>Q5ZRX9</li><li>Q9CP21</li><li>P15174</li><li>Q82U82</li><li>P62976</li><li>P62977</li><li>P62974</li><li>P62975</li><li>P62972</li><li>P13117</li><li>P14624</li><li>P62973</li><li>Q8ZLY4</li><li>Q6FA38</li><li>Q62EU1</li><li>Q665U9</li><li>P0C014</li><li>P59263</li><li>Q8PPG9</li><li>P22589</li><li>Q9L7A3</li><li>P62988</li><li>P62989</li><li>Q87DS9</li><li>P59669</li><li>P69326</li><li>Q5X1E5</li><li>P69322</li><li>P69323</li><li>P69324</li><li>P69325</li><li>P19848</li><li>Q9JZ88</li><li>P42739</li><li>Q867C2</li><li>Q63YC3</li><li>Q8Y395</li><li>P62991</li><li>Q6LV05</li><li>P62990</li><li>Q867C4</li><li>Q9PDL7</li><li>Q867C3</li><li>P68204</li><li>Q57JQ5</li><li>Q865C5</li><li>P42740</li><li>P68201</li><li>P06961</li><li>Q88QU2</li><li>P0C072</li><li>Q5E2K7</li><li>Q8CXX6</li><li>Q7M7K5</li><li>Q8XBL4</li><li>Q8Z3M9</li><li>P69308</li><li>P69309</li><li>P20685</li><li>P46574</li><li>P69310</li><li>Q9JUB2</li><li>P69313</li><li>P69314</li><li>P69311</li><li>P08618</li><li>P69312</li><li>P69317</li><li>P69318</li><li>P69315</li><li>Q9KPC6</li><li>P69316</li><li>Q8CWL6</li><li>P69319</li><li>P49634</li><li>P49635</li><li>Q9Y848</li><li>Q6D160</li><li>Q65Q41</li><li>P69321</li><li>P23324</li><li>P69320</li>	Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]		3
O95297	9019	<ul><li>Y->F at 241: Significantly decreases phosphorylation. Complete loss of phosphorylation; when associated with F-263</li><li>Y->F at 263: Significantly decreases phosphorylation. Complete loss of phosphorylation; when associated with F-241</li></ul>		phosphorylation	GO:0016310								1
O95373	10527	<ul><li>K->A,D at 61: Lowered affinity for RanGTP-binding</li></ul>	<li>T->N at 111: in dbSNP:rs11042340</li>			binding	GO:0005488					rs11042340	3
O95391	10569	<ul><li>R->N at 116: Abolishes nuclear localization</li><li>K->N at 117: Abolishes nuclear localization</li><li>C->S at 120: Induces a cytoplasmic localization; when associated with S-123; G-128 and S-133</li><li>C->S at 123: Induces a cytoplasmic localization; when associated with S-120; G-128 and S-133</li><li>AM->VP at 125-126: Does not affect nuclear localization</li><li>H->G at 128: Induces a cytoplasmic localization; when associated with S-120; S-123 and S-133</li><li>K->N at 129: Abolishes nuclear localization</li><li>C->S at 133: Induces a cytoplasmic localization; when associated with S-120; S-123 and G-128</li><li>R->N at 136: Abolishes nuclear localization</li><li>K->N at 166: Abolishes nuclear localization</li></ul>	<li>I->V at 111: in dbSNP:rs17856338</li><li>T->M at 229: in dbSNP:rs2961944</li>	localization	GO:0051179							<li>rs2961944</li><li>rs17856338</li>	3
O95394	5238	<ul><li>S->A at 64: Loss of activity</li><li>H->A at 65: Loss of activity</li><li>D->A,E at 278: Loss of activity</li><li>R->A,K at 281: Loss of activity</li></ul>	<li>D->N at 466: in allele PGM3*2; dbSNP:rs473267</li>							O95394		rs473267	3
O95398	10411	<ul><li>L->W at 315: Abolishes activation of RAP1A</li><li>R->K at 321: Reduces activation of RAP1A</li><li>F->A,T at 342: Diminishes GEF activity dependence on cAMP concentration</li></ul>	<li>A->P at 16: in dbSNP:rs11168230</li><li>G->R at 193: in dbSNP:rs2016123</li><li>G->S at 374: in dbSNP:rs12422983</li>							<li>Q9NR83</li><li>Q6Q9I2</li><li>P62833</li><li>P62834</li>		<li>rs2016123</li><li>rs12422983</li><li>rs11168230</li>	3
O95405	9372	<ul><li>Y->A at 782: Diminishes complex formation with SMAD2</li><li>Y->E at 782: Diminishes complex formation with SMAD2</li><li>C->A at 783: Diminishes complex formation with SMAD2</li><li>C->E at 783: Diminishes complex formation with SMAD2</li><li>P->A at 788: Diminishes complex formation with SMAD2</li><li>P->E at 788: Diminishes complex formation with SMAD2</li><li>V->A at 805: Diminishes complex formation with SMAD2</li><li>V->E at 805: Diminishes complex formation with SMAD2</li></ul>	<li>Y->C at 287: in dbSNP:rs9803965</li><li>Q->P at 414: in dbSNP:rs3790525</li><li>I->V at 639: in dbSNP:rs11809887</li>							<li>Q15796</li><li>Q1W668</li>		<li>rs11809887</li><li>rs9803965</li><li>rs3790525</li>	3
O95429	9530	<ul><li>E->A at 414: Reduces interaction with HSP70</li><li>D->A at 424: Abolishes interaction with HSP70</li><li>RK->AA at 438-439: Reduces interaction with HSP70</li><li>Q->A at 446: Abolishes interaction with HSP70</li></ul>								<li>P27541</li><li>Q8RB68</li><li>Q73GL7</li><li>P27542</li><li>Q6AMQ3</li><li>Q8DF66</li><li>Q71ZJ7</li><li>P56836</li><li>Q7NAU6</li><li>Q3IUI0</li><li>Q8RH05</li><li>Q6B8V2</li><li>Q92260</li><li>P19993</li><li>P69377</li><li>Q892R0</li><li>Q01100</li><li>Q47HK2</li><li>Q3Z601</li><li>Q8YE76</li><li>Q9ZAD3</li><li>Q39JC8</li><li>Q9HHB9</li><li>P69376</li><li>Q5QXL1</li><li>Q5YNI0</li><li>Q818E9</li><li>P14834</li><li>O83246</li><li>Q49Y22</li><li>P30722</li><li>P16394</li><li>P30721</li><li>P75344</li><li>Q8ZIM7</li><li>Q9ZFC6</li><li>Q74IT6</li><li>P99110</li><li>Q9WYK6</li><li>Q9L7Z1</li><li>Q634M7</li><li>P96133</li><li>Q8D2Q5</li><li>P48205</li><li>P26791</li><li>Q9RY23</li><li>Q9K0N4</li><li>P09189</li><li>Q8KEP3</li><li>Q9HRY2</li><li>P48209</li><li>Q5PAB8</li><li>Q48E62</li><li>P20442</li><li>Q8NLY6</li><li>Q4A8U5</li><li>P80462</li><li>Q6F6N3</li><li>Q07437</li><li>P28608</li><li>Q87RX3</li><li>Q87BS8</li><li>Q9HV43</li><li>Q74H59</li><li>Q7MN85</li><li>O96772</li><li>Q89YW6</li><li>O69268</li><li>P41753</li><li>Q7VIE3</li><li>Q93R27</li><li>Q7VVY2</li><li>Q8CP17</li><li>Q7W519</li><li>Q3JP10</li><li>O06942</li><li>Q4JXX6</li><li>O85282</li><li>P91902</li><li>Q6G1F9</li><li>P40918</li><li>P50019</li><li>Q6F149</li><li>O87777</li><li>Q5WV15</li><li>Q493S7</li><li>Q92BN8</li><li>Q91233</li><li>O93866</li><li>P47547</li><li>Q8Z9R1</li><li>Q8K624</li><li>Q65U55</li><li>P11503</li><li>Q5H186</li><li>P83709</li><li>P0A5C0</li><li>Q01233</li><li>P94317</li><li>Q5FFM4</li><li>Q5UQ49</li><li>Q6D0B7</li><li>P0A6Y9</li><li>P0A6Y8</li><li>Q49539</li><li>Q5M6D1</li><li>Q8EHT7</li><li>Q45551</li><li>Q8PAK9</li><li>O86103</li><li>P50023</li><li>Q67S54</li><li>Q661A3</li><li>Q5X3M7</li><li>Q5NPS6</li><li>Q5M1T8</li><li>Q05981</li><li>O68191</li><li>Q8GH79</li><li>P95334</li><li>P0A3J2</li><li>P0A3J3</li><li>Q4QJW4</li><li>P0A3J0</li><li>P0A3J1</li><li>P0A3J4</li><li>P12795</li><li>Q7N8Y4</li><li>P08108</li><li>Q48RR3</li><li>Q7NXI3</li><li>Q9WWG9</li><li>Q9UXR0</li><li>P57870</li><li>Q6L0S7</li><li>P80692</li><li>Q6MB26</li><li>P95829</li><li>P59565</li><li>P0A6Z0</li><li>O06430</li><li>Q52701</li><li>Q4L6T0</li><li>P08106</li><li>P29215</li><li>Q64X01</li><li>O87384</li><li>Q3KIA0</li><li>P0A5B9</li><li>P02827</li><li>P41797</li><li>P87047</li><li>Q6G554</li><li>P05646</li><li>Q9L7P1</li><li>Q54215</li><li>Q8G6W1</li><li>Q47TI0</li><li>O33522</li><li>Q05647</li><li>P27894</li><li>Q05746</li><li>Q6MT06</li><li>O33528</li><li>P64410</li><li>Q9ZMW4</li><li>P08418</li><li>Q6GGC0</li><li>P0C0C6</li><li>Q84BU4</li><li>Q5HAY1</li><li>P37899</li><li>Q4KIH1</li><li>Q3APD2</li><li>O52064</li><li>Q9JVQ9</li><li>Q8FXX2</li><li>P05456</li><li>P26823</li><li>Q57TP3</li><li>P27094</li><li>P61443</li><li>Q72IK5</li><li>Q68XI2</li><li>Q24789</li><li>Q5HFI0</li><li>Q56235</li><li>Q4UJK7</li><li>Q97BG8</li><li>Q5HNW6</li><li>Q4AAR4</li><li>Q2SSB0</li><li>Q4FNP9</li><li>Q37106</li><li>P61442</li><li>Q3YRR6</li><li>Q5FSL5</li><li>Q5NFG7</li><li>Q6NCY4</li><li>O32464</li><li>Q6AC76</li><li>Q02028</li><li>P29133</li><li>Q9PB05</li><li>P68837</li><li>Q9ZDX9</li><li>Q66ET0</li><li>Q72DW8</li><li>Q730M1</li><li>Q3K3T2</li><li>Q32KA5</li><li>P26413</li><li>P43736</li><li>Q62HD5</li><li>Q3IYM7</li><li>P48720</li><li>Q05945</li><li>Q93GF1</li><li>Q57AD7</li><li>Q46XI7</li><li>Q9ZIV1</li><li>Q9KWS7</li><li>Q5HV33</li><li>Q3BVB8</li><li>Q3J7D8</li><li>Q9PQF2</li><li>Q9XCB1</li><li>P25840</li><li>P0C0C5</li><li>Q81LS2</li><li>Q9TLT1</li><li>Q9KD72</li><li>Q00488</li><li>Q8TQR2</li><li>Q05558</li><li>P94695</li><li>Q326K7</li><li>Q5PDJ5</li><li>O05714</li><li>Q7MA35</li><li>Q9ZEJ0</li><li>Q9LCQ5</li><li>Q5F6W5</li><li>O52960</li><li>O32482</li><li>Q8XW40</li><li>Q88VM0</li><li>Q824B2</li><li>Q4FPS9</li><li>Q6NEY9</li><li>Q7NDH1</li><li>Q85FW4</li><li>P49463</li><li>Q65H54</li><li>Q5LWJ6</li><li>Q5LG30</li><li>P81875</li><li>O05700</li><li>Q5WHG1</li><li>Q87WP0</li><li>Q3ZYV1</li><li>Q88DU2</li><li>O69298</li><li>Q5ZTY3</li><li>Q6YPM1</li><li>Q92J36</li><li>Q98QY7</li><li>Q4A658</li><li>Q8EUH7</li><li>P78983</li><li>Q8KML6</li><li>P17804</li><li>Q8CWT3</li><li>Q56073</li><li>Q3Z6P1</li><li>Q5GSE1</li><li>O27351</li><li>Q3SIN4</li><li>Q4UT11</li><li>Q3IC08</li><li>P71331</li><li>Q3AF08</li><li>Q7VQL4</li><li>P55994</li><li>Q95YL7</li><li>O87712</li><li>P11144</li><li>Q91291</li><li>P11143</li><li>P11145</li><li>Q5P1H5</li><li>Q7UM31</li><li>Q73Q16</li><li>Q8FM78</li><li>Q98DD1</li><li>O67118</li><li>Q3KLV7</li><li>Q6HDK7</li><li>Q46I76</li><li>Q835R7</li><li>Q00043</li><li>P17821</li><li>P17820</li><li>P45554</li><li>Q4ZNP7</li><li>P81341</li><li>Q313S2</li><li>O34241</li><li>P64407</li><li>P64409</li><li>Q8PMB0</li><li>Q465Y6</li><li>P64408</li><li>Q9S5A4</li><li>Q38W93</li><li>Q7WGI4</li><li>Q5XAD6</li><li>Q6KIH7</li><li>Q8K9Y8</li><li>Q3SW76</li><li>P42374</li><li>Q6MNF8</li><li>Q83MH5</li><li>Q8EPW4</li><li>P42373</li><li>Q6G8Y7</li><li>Q607A5</li><li>Q3A8C2</li><li>Q5KWZ7</li>			1
O95445	55937	<ul><li>N->Q at 135: Loss of glycosylation</li><li>N->Q at 148: No loss of glycosylation</li></ul>											1
O95453	5073	<ul><li>D->A at 28: Loss of function but does not abolish ability to bind RNA. Induces a decrease in degradation of mRNAs containing AREs</li><li>D->C at 28: Loss of function in the presence of Mg(2+) but not in the presence of Mn(2+), Zn(2+), Co(2+) or Cd(2+)</li><li>E->A at 30: Loss of function but does not abolish ability to bind RNA. Induces a decrease in degradation of mRNAs containing AREs</li><li>E->C at 30: Loss of function in the presence of Mg(2+), Mn(2+), Zn(2+), Co(2+) or Cd(2+)</li><li>F->A at 31: Reduced affinity for poly(A). Loss of activity</li><li>I->A at 34: Reduced affinity for poly(A). Strongly reduced activity</li><li>I->A at 113: Loss of dimerization. Loss of activity</li><li>F->A at 115: Reduced affinity for poly(A). Little effect on activity</li><li>F->A at 123: Loss of dimerization. Loss of activity</li><li>D->A at 292: Loss of function but does not abolish ability to bind RNA</li><li>D->C at 292: Loss of function in the presence of Mg(2+) but not in the presence of Mn(2+), Zn(2+), Co(2+) or Cd(2+)</li><li>K->A at 326: Reduced affinity for poly(A). Little effect on activity</li><li>H->A at 377: Loss of activity</li><li>D->A at 382: Loss of function but does not abolish ability to bind RNA. Induces a decrease in degradation of mRNAs containing AREs</li><li>D->C at 382: Loss of function in the presence of Mg(2+) but not in the presence of Mn(2+), Zn(2+), Co(2+) or Cd(2+)</li></ul>											1
O95461	9215	<ul><li>DTD->NNN at 242-244: Loss of function, but does not abolish subcellular location</li><li>DQD->NNN at 334-336: Loss of function, but does not abolish subcellular location</li><li>DID->NNN at 563-565: Loss of function and abolishes subcellular location</li></ul>	<li>R->G at 68: in dbSNP:rs470035</li><li>R->P at 68: in dbSNP:rs135311</li><li>E->K at 509: in MDC1D, MIM: 608840</li><li>R->H at 665: in dbSNP:rs1046166, MIM: 608840</li>								Congenital muscular dystrophy type 1D (MDC1D) [MIM:608840]	<li>rs135311</li><li>rs470035</li><li>rs1046166</li>	3
O95470	8879	<ul><li>C->G at 218: Loss of activity</li><li>C->S at 317: Almost no activity</li><li>K->L at 353: Loss of activity</li></ul>	<li>V->L at 21: in dbSNP:rs12770335</li>									rs12770335	3
O95476	23399	<ul><li>D->N,E at 67: Abolishes phosphatase activity</li></ul>	<li>A->T at 12: in dbSNP:rs3744399</li>							<li>Q7M7K5</li><li>Q5X1E5</li><li>Q7MAZ9</li><li>Q8XBL4</li><li>Q7MBF4</li><li>Q5P3T0</li><li>Q88A53</li><li>Q5PC82</li><li>Q8Z3M9</li><li>Q821A6</li><li>Q5ZRX9</li><li>Q87SK9</li><li>Q9JZ88</li><li>Q9CP21</li><li>Q82U82</li><li>Q9I5V3</li><li>Q5F8K9</li><li>Q63YC3</li><li>Q8Y395</li><li>Q6LV05</li><li>Q8ZLY4</li><li>Q6FA38</li><li>Q9PDL7</li><li>Q62EU1</li><li>Q9JUB2</li><li>Q5WT58</li><li>Q665U9</li><li>Q57JQ5</li><li>Q9KPC6</li><li>Q8CWL6</li><li>Q8P5D4</li><li>Q8PPG9</li><li>P06961</li><li>P45269</li><li>Q88QU2</li><li>Q9L7A3</li><li>Q6D160</li><li>Q87DS9</li><li>Q60CQ4</li><li>Q8ZI64</li><li>Q65Q41</li><li>Q5E2K7</li><li>Q8CXX6</li>		rs3744399	3
O95613	5116	<ul><li>FR->AA at 3196-3197: Decrease in calmodulin binding</li><li>V->A at 3203: Decrease in calmodulin binding</li><li>RL->AA at 3208-3209: Decrease in calmodulin binding</li></ul>	<li>T->I at 539: in dbSNP:rs2249060</li><li>E->G at 704: in dbSNP:rs2839223</li><li>T->A at 879: in dbSNP:rs2839227</li><li>A->V at 1038: in dbSNP:rs6518289</li><li>R->C at 1163: in dbSNP:rs7279204</li><li>A->T at 1194: in dbSNP:rs35044802</li><li>I->V at 1639: in dbSNP:rs6518291</li><li>N->S at 1841: in dbSNP:rs35940413</li><li>R->H at 1953: in dbSNP:rs34268261</li><li>R->Q at 1960: in dbSNP:rs34813667</li><li>L->P at 2097: in dbSNP:rs2839245</li><li>H->P at 2125: in dbSNP:rs35978208</li><li>M->R at 2188: in dbSNP:rs1044998</li><li>S->P at 2191: in dbSNP:rs34151633</li>			binding	GO:0005488			<li>Q40302</li><li>Q8STF0</li><li>P04353</li><li>P41040</li><li>P04352</li><li>Q9GRJ1</li><li>P61860</li><li>P02594</li><li>P02595</li><li>P61861</li><li>P48976</li><li>O82018</li><li>P62144</li><li>P62184</li><li>P93171</li><li>P62145</li><li>P07463</li><li>Q5RAD2</li><li>P24044</li><li>P11121</li><li>P62149</li><li>O02367</li><li>P06787</li><li>Q6IT78</li><li>P05935</li><li>P05933</li><li>O16305</li><li>Q6PI52</li><li>P05934</li><li>Q6YNX6</li><li>Q7Y052</li><li>Q95NR9</li><li>P11118</li><li>P62157</li><li>P62156</li><li>P21251</li><li>P62155</li><li>Q5EHV7</li><li>P62154</li><li>P62152</li><li>P62151</li><li>Q7T3T2</li><li>P69097</li><li>P69098</li><li>P60206</li><li>Q9U6D3</li><li>Q9HFY6</li><li>P60205</li><li>P60204</li><li>P62158</li><li>O96102</li><li>P18061</li><li>P62201</li><li>P11120</li><li>P93087</li><li>Q8X187</li><li>O60041</li><li>P62160</li><li>P62204</li><li>Q05055</li><li>P62203</li><li>P61859</li><li>P62202</li><li>P17928</li><li>P15094</li><li>Q95NI4</li><li>P02598</li><li>P62162</li><li>Q9UWF0</li><li>P02599</li><li>P62161</li><li>Q71UH6</li><li>Q71UH5</li><li>O97341</li><li>P04464</li><li>P27165</li><li>Q39752</li><li>P27166</li><li>P84339</li><li>P23286</li><li>P27161</li><li>O94739</li><li>P41041</li><li>Q6R520</li>		<li>rs2249060</li><li>rs34813667</li><li>rs1044998</li><li>rs7279204</li><li>rs2839227</li><li>rs2839223</li><li>rs2839245</li><li>rs34151633</li><li>rs35940413</li><li>rs35978208</li><li>rs35044802</li><li>rs34268261</li><li>rs6518289</li><li>rs6518291</li>	3
O95628	4850	<ul><li>L->A,E at 16: Abolishes interaction with E2 ubiquitin ligases</li><li>C->A at 17: Abolishes interaction with E2 ubiquitin ligases</li><li>M->A at 18: Strongly reduces interaction with E2 ubiquitin ligases</li><li>C->R at 33: Abolishes interaction with E2 ubiquitin ligases</li><li>W->A at 42: Strongly reduces interaction with E2 ubiquitin ligases</li><li>R->A,E at 44: Strongly reduces interaction with E2 ubiquitin ligases</li><li>I->A,W at 45: Strongly reduces interaction with E2 ubiquitin ligases</li><li>E->A at 49: Strongly reduces interaction with E2 ubiquitin ligases</li><li>P->A at 54: Strongly reduces interaction with E2 ubiquitin ligases</li><li>R->A,E at 57: Strongly reduces interaction with E2 ubiquitin ligases</li></ul>	<li>A->G at 7: in dbSNP:rs17480616</li>			E2	GO:0004840			<li>P69326</li><li>P08565</li><li>P69322</li><li>P69323</li><li>P69324</li><li>P69325</li><li>P68196</li><li>O46543</li><li>P68197</li><li>Q05550</li><li>P68198</li><li>P68199</li><li>P19848</li><li>P68195</li><li>P42739</li><li>Q867C2</li><li>P62991</li><li>P62990</li><li>P61863</li><li>P61864</li><li>P61862</li><li>Q867C4</li><li>Q867C3</li><li>P23398</li><li>P68204</li><li>P84589</li><li>Q865C5</li><li>P42740</li><li>P68201</li><li>Q8MKD1</li><li>P14792</li><li>P63049</li><li>P0C072</li><li>P63051</li><li>P69308</li><li>P69309</li><li>P20685</li><li>P15174</li><li>P62976</li><li>P62977</li><li>P62974</li><li>P62975</li><li>P62972</li><li>P13117</li><li>P14624</li><li>P62973</li><li>P46574</li><li>P69310</li><li>P69313</li><li>P69314</li><li>P69311</li><li>P69312</li><li>P08618</li><li>P69317</li><li>P69318</li><li>P0C014</li><li>P69315</li><li>P69316</li><li>P59263</li><li>P69319</li><li>P49634</li><li>P49635</li><li>P22589</li><li>Q9Y848</li><li>P62988</li><li>P62989</li><li>P23324</li><li>P69321</li><li>P69320</li><li>P59669</li>		rs17480616	3
O95630	10617	<ul><li>D->A at 348: Promotes accumulation of ubiquitin on endosomes, ablates enzymatic activity toward polyubiquitin substrate and allows ubiquitinated STAM stabilization</li></ul>						endosomes	GO:0005768	<li>P69326</li><li>P08565</li><li>P69322</li><li>P69323</li><li>P69324</li><li>P69325</li><li>P68196</li><li>O46543</li><li>P68197</li><li>Q05550</li><li>P68198</li><li>P68199</li><li>P19848</li><li>P68195</li><li>P42739</li><li>Q867C2</li><li>P62991</li><li>P62990</li><li>P61863</li><li>P61864</li><li>P61862</li><li>Q867C4</li><li>Q867C3</li><li>P23398</li><li>P68204</li><li>P84589</li><li>Q865C5</li><li>P42740</li><li>P68201</li><li>Q8MKD1</li><li>P14792</li><li>P63049</li><li>P0C072</li><li>P63051</li><li>P69308</li><li>P69309</li><li>P20685</li><li>P15174</li><li>P62976</li><li>P62977</li><li>P62974</li><li>P62975</li><li>P62972</li><li>P13117</li><li>P14624</li><li>P62973</li><li>P46574</li><li>P69310</li><li>P69313</li><li>P69314</li><li>P69311</li><li>P69312</li><li>P08618</li><li>P69317</li><li>P69318</li><li>P0C014</li><li>P69315</li><li>P69316</li><li>Q92783</li><li>P59263</li><li>P69319</li><li>P49634</li><li>P49635</li><li>P22589</li><li>Q9Y848</li><li>P62988</li><li>P62989</li><li>P23324</li><li>P69321</li><li>P69320</li><li>P59669</li>			1
O95644	4772	<ul><li>S->A at 169: No effect on subcellular localization</li><li>S->A at 172: Partial nuclear translocation</li><li>S->A at 187: No effect on subcellular localization</li></ul>	<li>A->T at 315: in a colorectal cancer sample; somatic mutation</li>	localization	GO:0051179								3
O95684	11116	<ul><li>V->F at 74: Abolishes homodimerization and leads to aggregation</li></ul>	<li>K->N at 271: in dbSNP:rs17856382</li>									rs17856382	3
O95747	9943	<ul><li>K->A at 46: Loss of autophosphorylation and kinase activity</li><li>K->M at 46: Loss of RELT, RELL1 and RELL2 phosphorylation. Retention of some autophosphorylation activity may be due to complex formation with other endogenous kinases in the assay</li></ul>	<li>T->I at 304: in dbSNP:rs6599079</li><li>S->T at 425: in dbSNP rsrs35295772</li><li>P->S at 433: in a metastatic melanoma sample; somatic mutation</li>	<li>phosphorylation</li><li>autophosphorylation</li>	<li>GO:0016310</li><li>GO:0046777</li>	kinase activity	GO:0016301			<li>Q969Z4</li><li>Q9N092</li>		<li>rs35295772</li><li>rs6599079</li>	3
O95786	23586	<ul><li>T->I at 55: No IRF3 signaling activity; no effect on dsRNA binding</li><li>K->A at 270: No IRF3 signaling activity</li></ul>	<li>R->C at 7: in dbSNP:rs10813831</li><li>D->E at 580: in dbSNP:rs17217280</li>			binding	GO:0005488			<li>Q4JF28</li><li>Q764M6</li><li>Q90643</li><li>Q14653</li>		<li>rs17217280</li><li>rs10813831</li>	3
O95832	9076	<ul><li>I->M at 32: 90% loss of HCV infection susceptibility in cell culture</li><li>E->K at 48: No effect on HCV infection susceptibility in cell culture</li></ul>											1
O95835	9113	<ul><li>K->A at 734: Loss of kinase activity, autophosphorylation, increased ploidy, prolonged duration of mitosis and lack of p53 expression</li></ul>	<li>R->W at 96: in dbSNP rsrs55945045</li><li>S->G at 204: in dbSNP rsrs34793526</li><li>P->Q at 237: in dbSNP rsrs56149740</li><li>R->W at 370: in dbSNP rsrs56348064</li><li>P->S at 531: in dbSNP rsrs55874734</li><li>F->L at 641: in dbSNP rsrs35163691</li><li>M->I at 669: in a lung adenocarcinoma sample; somatic mutation</li><li>R->P at 806: in a lung large cell carcinoma sample; somatic mutation</li><li>G->S at 1000: in dbSNP rsrs56412005</li>	<li>mitosis</li><li>autophosphorylation</li>	<li>GO:0007067</li><li>GO:0046777</li>	kinase activity	GO:0016301			<li>Q9W679</li><li>Q9TUB2</li><li>Q9W678</li><li>Q9TTA1</li><li>P02340</li><li>O93379</li><li>P19559</li><li>P56423</li><li>P19558</li><li>P56424</li><li>Q8SPZ3</li><li>O12946</li><li>P79820</li><li>Q92143</li><li>P04637</li><li>Q29537</li><li>Q42578</li><li>O09185</li><li>P79892</li><li>O57538</li><li>P61260</li><li>P10361</li>		<li>rs56412005</li><li>rs35163691</li><li>rs56348064</li><li>rs34793526</li><li>rs56149740</li><li>rs55945045</li><li>rs55874734</li>	3
O95866	80739	<ul><li>Y->F at 211: Loss of tyrosine phosphorylation and loss of interaction with PTPN6 and PTPN11</li><li>Y->F at 237: Reduced level of tyrosine phosphorylation and interaction with PTPN6 and PTPN11</li></ul>	<li>R->G at 175: in dbSNP:rs11575845</li>	phosphorylation	GO:0016310					<li>P29350</li><li>Q06124</li><li>Q90687</li>		rs11575845	3
O95881	51060	<ul><li>C->S at 66: Loss of oxidase activity</li><li>C->S at 69: Loss of oxidase activity</li></ul>											1
O95931	23492	<ul><li>K->A at 31: Loss of cellular lifespan extension</li><li>W->A at 32: Loss of cellular lifespan extension</li></ul>											1
O95983	53615	<ul><li>H->K at 30: No effect. Confers strong binding to methylated CpG (in vitro); when associated with Y-30</li><li>F->A at 34: Augments DNA binding activity, irrespective of DNA methylation</li><li>F->Y at 34: Confers weak binding to methylated CpG (in vitro). Confers strong binding to methylated CpG (in vitro); when associated with K-30</li></ul>		DNA methylation	GO:0006306	<li>binding</li><li>DNA binding</li>	<li>GO:0005488</li><li>GO:0003677</li>						1
O95989	11165	<ul><li>G->A,V at 50: Loss of function</li><li>G->A at 51: Loss of function</li><li>G->A,V at 52: Loss of function</li><li>E->Q at 66: Loss of function</li><li>E->Q at 70: Loss of function</li><li>G->A at 72: Loss of function</li><li>G->A at 75: Loss of function</li><li>G->A at 78: No effect</li><li>G->V at 78: Loss of function</li><li>G->A at 82: Loss of function</li><li>F->Y at 84: Induces a strong decrease in Ap6A and [PP]-InsP4 hydrolysis, while it only weakly affects PP-InsP5 hydrolysis</li><li>H->L at 91: Induces a strong decrease in Ap6A and [PP]-InsP4 hydrolysis, while it only weakly affects PP-InsP5 hydrolysis</li></ul>											1
O95997	9232	<ul><li>R->A at 61: Abolishes ubiquitination and subsequent degradation; when associated with A-64</li><li>L->A at 64: Abolishes ubiquitination and subsequent degradation; when associated with A-61</li><li>P->A at 163: Strongly reduces transforming capability; when associated with L-170; A-172 and L-173</li><li>S->A at 165: Abolishes phosphorylation</li><li>PSPP->LSAL at 170-173: Strongly reduces transforming capability; when associated with A-163</li></ul>		phosphorylation	GO:0016310								1
O95999	8915	<ul><li>L->A at 28: Abolishes cell death-inducing capability</li><li>L->A at 41: Abolishes cell death-inducing capability</li><li>L->Q at 41: Abolishes NF-kappa-B activation and homo/hetero-dimerization</li><li>I->A at 46: Abolishes cell death-inducing capability</li><li>L->A at 47: Abolishes cell death-inducing capability</li><li>E->A at 53: Abolishes cell death-inducing capability</li><li>I->A at 55: Abolishes cell death-inducing capability</li><li>G->R at 78: Abolishes NF-kappa-B activation</li><li>R->G at 228: Abolishes MALT1-mediated cleavage</li><li>S->A at 231: Promotes NF-kappa-B activation</li></ul>	<li>A->S at 5: in MALT lymphoma and mesothelioma; dbSNP:rs12037217</li><li>V->E at 16: in MALT lymphoma</li><li>K->E at 31: in MALT lymphoma</li><li>K->Q at 45: in mesothelioma</li><li>T->I at 52: in mesothelioma</li><li>C->R at 57: in MALT lymphoma</li><li>R->G at 58: in germ cell tumor</li><li>R->Q at 58: in mesothelioma</li><li>R->K at 64: in MALT lymphoma</li><li>N->S at 93: in mesothelioma</li><li>D->E at 101: in MALT lymphoma</li><li>S->P at 134: in MALT lymphoma</li><li>M->V at 153: in mesothelioma</li><li>T->A at 168: in MALT lymphoma</li><li>L->S at 174: in MALT lymphoma</li><li>Missing  at 210: in follicular lymphoma</li><li>G->E at 213: in MALT lymphoma and mesothelioma; dbSNP:rs3768235</li><li>S->F at 218: in germ cell tumor, mesothelioma and other cancer cell lines</li><li>V->I at 230: in MALT lymphoma</li>	cell death	GO:0008219					Q9UDY8		<li>rs12037217</li><li>rs3768235</li>	3
O96017	11200	<ul><li>T->A at 68: Loss of activation and phosphorylation</li><li>D->A at 347: Loss of kinase activity</li><li>D->N at 368: Loss of autophosphorylation activity</li></ul>	<li>A->S at 17: in osteosarcoma; somatic mutation; might influence susceptibility to breast cancer; does not cause protein abrogation in familial colorectal cancer</li><li>T->K at 59: in multiple cancers</li><li>E->K at 64: in prostate cancer; somatic mutation</li><li>P->L at 85: in osteosarcoma; is a neutral allele among Ashkenazi Jewish women; dbSNP:rs17883862</li><li>R->G at 117: might influence susceptibility to breast cancer; does not cause protein abrogation in familial colorectal cancer: in dbSNP rsrs28909982</li><li>R->Q at 137: might influence susceptibility to breast cancer; does not cause protein abrogation in familial colorectal cancer</li><li>R->P at 145: in prostate cancer; somatic mutation</li><li>R->W at 145: in colon cancer and LFS2; does not cause protein abrogation in familial colorectal cancer, MIM: 609265</li><li>I->T at 157: might influence susceptibility to diffferent types of cancer; does not cause protein abrogation in familial colorectal cancer; dbSNP:rs17879961, MIM: 609265</li><li>G->R at 167: in prostate cancer; somatic mutation, MIM: 609265</li><li>R->C at 180: in prostate cancer; somatic mutation, MIM: 609265</li><li>R->H at 180: in prostate cancer; somatic mutation, MIM: 609265</li><li>R->C at 181: in prostate cancer; somatic mutation, MIM: 609265</li><li>R->H at 181: in prostate cancer; somatic mutation, MIM: 609265</li><li>E->K at 239: in prostate cancer; germline mutation, MIM: 609265</li><li>I->F at 251: in prostate cancer; germline mutation, MIM: 609265</li><li>R->H at 318: in prostate cancer; somatic mutation, MIM: 609265</li><li>T->P at 323: in prostate cancer; somatic mutation, MIM: 609265</li><li>Y->C at 327: in prostate cancer; somatic mutation, MIM: 609265</li><li>D->N at 347: in dbSNP:rs28909980, MIM: 609265</li><ul><li>D->A at 347: Loss of kinase activity</li></ul><li>R->H at 406: in dbSNP:rs299671, MIM: 609265</li></ul><li>S->F at 428: increases breast cancer risk approximately 2-fold among Ashkenazi Jewish women, MIM: 609265</li></ul><li>L->M at 436: in dbSNP:rs17882922, MIM: 609265</li></ul><li>N->K at 446: in dbSNP:rs17880867, MIM: 609265</li></ul><li>F->I at 447: in dbSNP:rs17881473, MIM: 609265</li></ul><li>I->S at 448: in dbSNP:rs17886163, MIM: 609265</li></ul><li>T->K at 476: in prostate cancer; somatic mutation, MIM: 609265</li></ul><li>S->C at 500: in dbSNP:rs28909981, MIM: 609265</li></ul><li>E->K at 501: in dbSNP:rs17883172, MIM: 609265</li></ul><li>L->V at 512: in dbSNP:rs17882942, MIM: 609265</li></ul>	<li>phosphorylation</li><li>autophosphorylation</li>	<li>GO:0016310</li><li>GO:0046777</li>	kinase activity	GO:0016301				Li-Fraumeni syndrome 2 (LFS2) [MIM:609265]	<li>rs17886163</li><li>rs17882922</li><li>rs17880867</li><li>rs28909981</li><li>rs28909980</li><li>rs17882942</li><li>rs17883862</li><li>rs17879961</li><li>rs17883172</li><li>rs299671</li><li>rs28909982</li><li>rs17881473</li>	4
O96020	9134	<ul><li>T->A at 392: Increase of steady state level</li></ul>	<li>N->S at 387: in dbSNP:rs28399585</li>									rs28399585	3
O97980	57824	<ul><li>E->A at 9: Decreased CTL recognition</li><li>E->A at 10: Decreased CTL recognition</li><li>K->A at 11: Complete loss of CTL recognition</li><li>R->A at 12: Complete loss of CTL recognition</li><li>G->A at 13: Complete loss of CTL recognition</li><li>S->A at 14: Complete loss of CTL recognition</li><li>L->A at 15: Complete loss of CTL recognition</li><li>H->A at 16: Complete loss of CTL recognition</li><li>H->R at 16: CTL recognition</li><li>V->A at 17: Decreased CTL recognition</li><li>W->A at 18: Complete loss of CTL recognition</li></ul>	<li>H->Y at 16: in allele HB-1Y; loss of CTL recognition for epitope HB-1. No influence on HLA-B/HLA-B44 binding, nor on the processing by the proteasome; dbSNP:rs161557</li><ul><li>H->A at 16: Complete loss of CTL recognition</li><li>H->R at 16: CTL recognition</li></ul>			binding	GO:0005488			<li>P30480</li><li>Q95365</li><li>Q29718</li><li>Q04826</li><li>P30498</li><li>P30479</li><li>P30495</li><li>P03989</li><li>P30493</li><li>P10319</li><li>P30492</li><li>P41416</li><li>P30475</li><li>Q29940</li><li>P30491</li><li>P30685</li><li>P30490</li><li>P18464</li><li>P18463</li><li>P01889</li><li>P18465</li><li>Q31610</li><li>Q29836</li><li>P30481</li><li>P30464</li><li>P30483</li><li>P30466</li><li>P30484</li><li>P30485</li><li>Q31612</li><li>P30460</li><li>P30486</li><li>P30461</li><li>P30487</li><li>P30462</li><li>P30488</li>		rs161557	4
P00367	2746	<ul><li>S->A at 501: Reduces activity and inhibition by GTP</li><li>H->A at 507: Strongly reduces inhibition by GTP</li><li>R->A at 516: Abolishes activation by ADP</li></ul>	<li>S->C at 270: in HHS; diminished sensitivity to GTP, MIM: 606762</li><li>R->C at 274: in HHS; diminished sensitivity to GTP: in dbSNP rsrs56275071, MIM: 606762</li><li>R->K at 318: in HHS, MIM: 606762</li><li>R->T at 318: in HHS; diminished sensitivity to GTP, MIM: 606762</li><li>Y->C at 319: in HHS, MIM: 606762</li><li>R->C at 322: in HHS; diminished sensitivity to GTP, MIM: 606762</li><li>R->H at 322: in HHS; diminished sensitivity to GTP, MIM: 606762</li><li>E->A at 349: in HHS, MIM: 606762</li><li>S->L at 498: in HHS, MIM: 606762</li><li>G->D at 499: in HHS, MIM: 606762</li><li>G->S at 499: in HHS, MIM: 606762</li><li>S->P at 501: in HHS, MIM: 606762</li><ul><li>S->A at 501: Reduces activity and inhibition by GTP</li></ul><li>H->Y at 507: in HHS; abolishes inhibition by ATP; no effect on activation by ADP, MIM: 606762</li><ul><li>H->A at 507: Strongly reduces inhibition by GTP</li></ul>							P02783	Hyperinsulinism-hyperammonemia syndrome (HHS) [MIM:606762]	rs56275071	4
P00441	6647	<ul><li>C->S at 7: Enhances formation of fibrillar aggregates in the absence of bound zinc; when associated with S-58; S-112 and S-147</li><li>FG->EE at 51-52: Abolishes dimerization; when associated with Q-134</li><li>C->S at 58: Enhances formation of fibrillar aggregates in the absence of bound zinc; when associated with S-7; S-112 and S-147</li><li>H->A at 81: Loss of zinc binding and enhanced tendency to form aggregates; when associated with A-84</li><li>H->S at 81: Destabilization of dimer and loss of zinc binding; when associated with S-84</li><li>D->A at 84: Loss of zinc binding and enhanced tendency to form aggregates; when associated with A-81</li><li>D->S at 84: Destabilization of dimer and loss of zinc binding; when associated with S-81</li><li>C->S at 112: Enhances formation of fibrillar aggregates in the absence of bound zinc; when associated with S-7; S-58 and S-147</li><li>E->Q at 134: Abolishes dimerization; when associated with E-50 and E-51</li><li>C->S at 147: Enhances formation of fibrillar aggregates in the absence of bound zinc; when associated with S-7; S-58 and S-112</li></ul>	<li>A->S at 5: in ALS1, MIM: 105400</li><li>A->T at 5: in ALS1, MIM: 105400</li><li>A->V at 5: in ALS1; severe form; reduces structural stability and enzyme activity; increases tendency to form fibrillar aggegates, MIM: 105400</li><li>C->F at 7: in ALS1, MIM: 105400</li><ul><li>C->S at 7: Enhances formation of fibrillar aggregates in the absence of bound zinc; when associated with S-58; S-112 and S-147</li></ul><li>V->E at 8: in ALS1, MIM: 105400</li></ul><li>L->Q at 9: in ALS1, MIM: 105400</li></ul><li>L->V at 9: in ALS1, MIM: 105400</li></ul><li>G->R at 13: in ALS1, MIM: 105400</li></ul><li>V->G at 15: in ALS1, MIM: 105400</li></ul><li>V->M at 15: in ALS1, MIM: 105400</li></ul><li>G->S at 17: in ALS1; sporadic young onset, MIM: 105400</li></ul><li>F->C at 21: in ALS1, MIM: 105400</li></ul><li>E->G at 22: in ALS1, MIM: 105400</li></ul><li>E->K at 22: in ALS1, MIM: 105400</li></ul><li>Q->L at 23: in ALS1, MIM: 105400</li></ul><li>G->R at 38: in ALS1; mild form; ubiquitinated by RNF19A, MIM: 105400</li></ul><li>L->R at 39: in ALS1, MIM: 105400</li></ul><li>L->V at 39: in ALS1, MIM: 105400</li></ul><li>G->D at 42: in ALS1, MIM: 105400</li></ul><li>G->S at 42: in ALS1, MIM: 105400</li></ul><li>H->R at 44: in ALS1; reduces structural stability and enzyme activity; increases tendency to form fibrillar aggegates, MIM: 105400</li></ul><li>F->C at 46: in ALS1; slow progression, MIM: 105400</li></ul><li>H->R at 47: in ALS1; "benign" form; 80% of wild-type activity; ubiquitinated by RNF19A, MIM: 105400</li></ul><li>H->Q at 49: in ALS1, MIM: 105400</li></ul><li>H->R at 49: in ALS1, MIM: 105400</li></ul><li>E->K at 50: in ALS1, MIM: 105400</li></ul><li>T->R at 55: in ALS1; reduces tendency to form fibrillar aggregates, MIM: 105400</li></ul><li>N->S at 66: in ALS1, MIM: 105400</li></ul><li>L->R at 68: in ALS1, MIM: 105400</li></ul><li>G->S at 73: in ALS1, MIM: 105400</li></ul><li>D->Y at 77: in ALS1, MIM: 105400</li></ul><li>H->A at 81: in ALS1; sporadic form; interferes with zinc binding; requires 2 nucleotide substitutions, MIM: 105400</li><ul><li>H->A at 81: Loss of zinc binding and enhanced tendency to form aggregates; when associated with A-84</li><li>H->S at 81: Destabilization of dimer and loss of zinc binding; when associated with S-84</li></ul><li>L->F at 85: in ALS1, MIM: 105400</li></ul><li>L->V at 85: in ALS1, MIM: 105400</li></ul><li>G->R at 86: in ALS1; ubiquitinated by RNF19A; interferes with zinc-binding, MIM: 105400</li></ul><li>N->S at 87: in ALS1: in dbSNP rsrs11556620, MIM: 105400</li></ul><li>V->A at 88: in ALS1, MIM: 105400</li></ul><li>A->T at 90: in ALS1, MIM: 105400</li></ul><li>A->V at 90: in ALS1, MIM: 105400</li></ul><li>D->A at 91: in ALS1; does not seem to be linked with a decrease in activity, MIM: 105400</li></ul><li>D->V at 91: in ALS1, MIM: 105400</li></ul><li>G->A at 94: in ALS1; increases tendency to form fibrillar aggregates; ubiquitinated by RNF19A, MIM: 105400</li></ul><li>G->C at 94: in ALS1, MIM: 105400</li></ul><li>G->D at 94: in ALS1, MIM: 105400</li></ul><li>G->R at 94: in ALS1; 30% of wild-type activity, MIM: 105400</li></ul><li>G->V at 94: in ALS1, MIM: 105400</li></ul><li>V->M at 98: in ALS1; increases tendency to form fibrillar aggregates, MIM: 105400</li></ul><li>E->G at 101: in ALS1, MIM: 105400</li></ul><li>E->K at 101: in ALS1, MIM: 105400</li></ul><li>D->G at 102: in ALS1, MIM: 105400</li></ul><li>D->N at 102: in ALS1, MIM: 105400</li></ul><li>I->F at 105: in ALS1, MIM: 105400</li></ul><li>S->L at 106: in ALS1, MIM: 105400</li></ul><li>L->V at 107: in ALS1, MIM: 105400</li></ul><li>G->V at 109: in ALS1, MIM: 105400</li></ul><li>I->M at 113: in ALS1, MIM: 105400</li></ul><li>I->T at 113: in ALS1, MIM: 105400</li></ul><li>I->T at 114: in ALS1; destabilizes dimeric protein structure and increases tendency to form fibrillar aggregates, MIM: 105400</li></ul><li>G->A at 115: in ALS1, MIM: 105400</li></ul><li>R->G at 116: in ALS1, MIM: 105400</li></ul><li>V->L at 119: in ALS1, MIM: 105400</li></ul><li>V->VFLQ at 119: in ALS1, MIM: 105400</li></ul><li>D->G at 125: in ALS1, MIM: 105400</li></ul><li>D->V at 125: in ALS1, MIM: 105400</li></ul><li>D->H at 126: in ALS1, MIM: 105400</li></ul><li>L->S at 127: in ALS1, MIM: 105400</li></ul><li>Missing  at 134: in ALS, MIM: 105400</li><ul><li>E->Q at 134: Abolishes dimerization; when associated with E-50 and E-51</li></ul><li>S->N at 135: in ALS1; reduced metal binding; increases tendency to form fibrillar aggegates, MIM: 105400</li></ul><li>N->K at 140: in ALS1, MIM: 105400</li></ul><li>L->F at 145: in ALS1, MIM: 105400</li></ul><li>L->S at 145: in ALS1, MIM: 105400</li></ul><li>A->T at 146: in ALS1, MIM: 105400</li></ul><li>C->R at 147: in ALS1, MIM: 105400</li><ul><li>C->S at 147: Enhances formation of fibrillar aggregates in the absence of bound zinc; when associated with S-7; S-58 and S-112</li></ul><li>G->R at 148: in ALS1, MIM: 105400</li></ul><li>V->G at 149: in ALS1, MIM: 105400</li></ul><li>V->I at 149: in ALS1, MIM: 105400</li></ul><li>I->T at 150: in ALS1, MIM: 105400</li></ul><li>I->T at 152: in ALS1; seems to affect formation of homodimer, MIM: 105400</li></ul>			<li>zinc binding</li><li>metal binding</li>	<li>GO:0008270</li><li>GO:0046872</li>			<li>P37251</li><li>Q41768</li><li>P37252</li><li>P65162</li><li>Q57625</li><li>P65161</li><li>Q57725</li><li>P70389</li><li>Q7U5G1</li><li>P0A622</li><li>P0A623</li><li>P42463</li><li>Q55141</li><li>O19929</li><li>O85293</li><li>O85294</li><li>Q04524</li><li>O02833</li><li>O67703</li><li>P66947</li><li>P66946</li><li>O78451</li><li>Q9RQ65</li><li>Q5KPJ5</li><li>P17597</li><li>P57321</li><li>O27492</li><li>O33112</li><li>Q09129</li><li>O33113</li><li>Q59498</li><li>O08353</li><li>Q59499</li><li>Q04789</li><li>O78518</li><li>Q9TLY1</li><li>P69683</li><li>P69684</li><li>P35858</li><li>P35859</li><li>Q9XS79</li><li>P36620</li><li>P57320</li><li>P27868</li><li>P07342</li><li>P46590</li><li>Q89AP7</li><li>P27696</li><li>Q89AP8</li><li>Q6K2E8</li><li>Q02140</li><li>Q9MS98</li><li>P45260</li><li>O28555</li><li>P45261</li><li>P25605</li><li>Q6SSJ3</li><li>P51230</li><li>Q02137</li>	Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	rs11556620	4
P00533	1956	<ul><li>Y->F at 1016: 50% decrease in interaction with PIK3C2B. 65% decrease in interaction with PIK3C2B; when associated with F-1197. Abolishes interaction with PIK3C2B; when associated with F-1197 and F-1092</li><li>Y->F at 1092: No change in interaction with PIK3C2B. Abolishes interaction with PIK3C2B; when associated with F-1197 and F-1016</li><li>Y->F at 1110: No change in interaction with PIK3C2B</li><li>Y->F at 1172: No change in interaction with PIK3C2B</li><li>Y->F at 1197: No change in interaction with PIK3C2B. 65% decrease in interaction with PIK3C2B; when associated with F-1016. Abolishes interaction with PIK3C2B; when associated with F-1092 and F-1016</li></ul>	<li>R->Q at 98: in dbSNP:rs17289589</li><li>P->R at 266: in dbSNP:rs17336639</li><li>R->K at 521: in dbSNP:rs2227983</li><li>V->I at 674: in dbSNP:rs17337079</li><li>E->A at 709: in lung cancer, MIM: 211980</li><li>E->K at 709: in lung cancer, MIM: 211980</li><li>G->A at 719: in lung cancer, MIM: 211980</li><li>G->C at 719: in lung cancer; dbSNP:rs28929495, MIM: 211980</li><li>G->D at 719: in lung cancer, MIM: 211980</li><li>G->S at 719: in lung cancer; somatic mutation, MIM: 211980</li><li>G->S at 724: in lung cancer, MIM: 211980</li><li>E->K at 734: in lung cancer, MIM: 211980</li><li>Missing  at 746-750: in lung cancer, MIM: 211980</li><li>Missing  at 746: in lung cancer, MIM: 211980</li><li>Missing  at 747-749: in lung cancer, MIM: 211980</li><li>L->F at 747: in lung cancer, MIM: 211980</li><li>R->P at 748: in lung cancer, MIM: 211980</li><li>Missing  at 752-759: in lung cancer, MIM: 211980</li><li>Q->R at 787: in lung cancer, MIM: 211980</li><li>T->M at 790: in lung cancer, MIM: 211980</li><li>L->V at 833: in lung cancer, MIM: 211980</li><li>V->L at 834: in lung cancer, MIM: 211980</li><li>L->M at 858: in lung cancer, MIM: 211980</li><li>L->R at 858: in lung cancer; somatic mutation, MIM: 211980</li><li>L->Q at 861: in lung cancer, MIM: 211980</li><li>G->E at 873: in lung cancer, MIM: 211980</li><li>R->G at 962: in dbSNP:rs17337451, MIM: 211980</li><li>H->P at 988: in dbSNP:rs17290699, MIM: 211980</li><li>L->R at 1034: in dbSNP rsrs34352568, MIM: 211980</li><li>A->V at 1210: in dbSNP rsrs35918369, MIM: 211980</li>							O00750	Lung cancer [MIM:211980]	<li>rs17336639</li><li>rs2227983</li><li>rs17290699</li><li>rs35918369</li><li>rs17337451</li><li>rs34352568</li><li>rs28929495</li><li>rs17337079</li><li>rs17289589</li>	3
P00749	5328	<ul><li>S->E at 158: Abolishes phosphorylation, proadhesive function and ability to induce chemotactic response; when associated with E-323</li><li>S->E at 323: Abolishes phosphorylation, proadhesive function and ability to induce chemotactic response; when associated with E-158</li></ul>	<li>V->L at 15: in dbSNP rsrs2227580</li><li>P->L at 141: rare polymorphism; linked with a decrease in the affinity for fibrin-binding: in dbSNP rsrs2227564</li><li>M->I at 214</li><li>K->Q at 231: in dbSNP rsrs2227567</li>	phosphorylation	GO:0016310	binding	GO:0005488					<li>rs2227564</li><li>rs2227580</li><li>rs2227567</li>	3
P00973	4938	<ul><li>D->A at 75: Loss of activity; when associated with A-77</li><li>D->A at 77: Loss of activity; when associated with A-75</li><li>C->A at 331: Loss of activity; when associated with A-332 and A-333</li><li>F->A at 332: Loss of activity; when associated with A-331 and A-333</li><li>K->A at 333: Loss of activity; when associated with A-331 and A-332</li></ul>	<li>S->G at 162: in dbSNP:rs1131454</li>									rs1131454	3
P01008	462	<ul><li>A->K at 414: Reduces interaction with thrombin by 99%</li><li>A->Q at 414: Reduces interaction with thrombin by 80%</li></ul>	<li>Y->S at 17: in AT3D; type-I, MIM: 107300</li><li>L->P at 23: in AT3D; type-I; impairs cotranslational processing, MIM: 107300</li><li>V->E at 30: in Dublin; dbSNP:rs2227624, MIM: 107300</li><li>C->R at 32: in AT3D; type-I, MIM: 107300</li><li>I->N at 39: in AT3D; type-II; Rouen-3; lack of heparin-binding properties: in dbSNP rsrs28929468, MIM: 107300</li><li>M->T at 52: previously Whitechapel, MIM: 107300</li><li>R->C at 56: in AT3D; type-II; Rouen-4; lack of heparin-binding properties: in dbSNP rsrs28929469, MIM: 107300</li><li>P->L at 73: in AT3D; type-II; Basel/Franconville/Clichy-1/Clichy-2/Dublin-2; lacks heparin-binding ability, MIM: 107300</li><li>R->C at 79: in AT3D; Tours/Alger/Amiens/Toyama/Paris-1/Paris-2/Padua-2/Barcelona-2/Kumamoto/Omura/Sasebo; lacks heparin-binding ability, MIM: 107300</li><li>R->H at 79: in AT3D; type-II; Rouen-1/Padua-1/Bligny/Budapest-2; lack of heparin-binding properties, MIM: 107300</li><li>R->S at 79: in AT3D; type-II; Rouen-2; lack of heparin-binding properties, MIM: 107300</li><li>Missing  at 87: in AT3D; type-I, MIM: 107300</li><li>R->C at 89: in AT3D; type-I, MIM: 107300</li><li>F->L at 90: in AT3D; type-I; Budapest-6, MIM: 107300</li><li>Y->C at 95: in AT3D; type-I, MIM: 107300</li><li>Y->S at 95: in AT3D; type-I, MIM: 107300</li><li>L->P at 98: in AT3D; type-I, MIM: 107300</li><li>Missing  at 108-109: in AT3D; type-I, MIM: 107300</li><li>P->T at 112: in AT3D; type-I, MIM: 107300</li><li>M->K at 121: in AT3D; type-I, MIM: 107300</li><li>C->R at 127: in AT3D; type-I, MIM: 107300</li><li>L->F at 131: in AT3D; type-II; Budapest-3/Budapest-7, MIM: 107300</li><li>L->V at 131: in AT3D; type-II; Southport, MIM: 107300</li><li>Q->K at 133: in AT3D; type I, MIM: 107300</li><li>Missing  at 138-139: in AT3D; type-I, MIM: 107300</li><li>K->E at 146: in AT3D; Dreux; complete loss af heparin binding, MIM: 107300</li><li>T->A at 147: in dbSNP:rs2227606, MIM: 107300</li><li>S->P at 148: in AT3D; type-II; Nagasaki; defective heparin binding associated with thrombosis, MIM: 107300</li><li>Q->P at 150: in AT3D; type-II; Vienna, MIM: 107300</li><li>Missing  at 152-154: in AT3D; type-I, MIM: 107300</li><li>H->Y at 152: in AT3D; type-I, MIM: 107300</li><li>Missing  at 153: in AT3D; type-I, MIM: 107300</li><li>L->P at 158: in AT3D; type-I, MIM: 107300</li><li>C->Y at 160: in AT3D; type-I, MIM: 107300</li><li>R->Q at 161: in AT3D; type-II; Geneva, MIM: 107300</li><li>N->T at 167, MIM: 107300</li><li>L->H at 178: in AT3D; type-I, MIM: 107300</li><li>F->L at 179: in AT3D; type-I, MIM: 107300</li><li>Y->C at 190: polymorphism in population of Scandinavian origin, MIM: 107300</li><li>Y->C at 198: in AT3D; type-I and -II; Whitechapel, MIM: 107300</li><li>Y->H at 198: in AT3D; type-I, MIM: 107300</li><li>S->F at 214: in AT3D; type-I, MIM: 107300</li><li>S->Y at 214: in AT3D; type-I, MIM: 107300</li><li>Missing  at 218: in AT3D; type-I, MIM: 107300</li><li>N->D at 219: in AT3D; type-II; Rouen-6; increases affinity for heparin, MIM: 107300</li><li>N->K at 219: in AT3D; type-II; Glasgow-3, MIM: 107300</li><li>S->P at 223: in AT3D; type-I, MIM: 107300</li><li>T->I at 243: in AT3D; type-I, MIM: 107300</li><li>I->T at 251: in AT3D; type-I, MIM: 107300</li><li>W->R at 257: in AT3D; type-I, MIM: 107300</li><li>F->L at 261: in AT3D, MIM: 107300</li><li>E->K at 269: in AT3D; type-II; Truro, increases affinity for heparin, MIM: 107300</li><li>Missing  at 273-307: in AT3D; type-I, MIM: 107300</li><li>M->I at 283: in AT3D; type-II, MIM: 107300</li><li>M->V at 283: in AT3D; type-II, MIM: 107300</li><li>L->P at 302: in AT3D; type-I, MIM: 107300</li><li>I->N at 316: in AT3D; type-II; Haslar/Whitechapel, MIM: 107300</li><li>S->P at 323: in AT3D, MIM: 107300</li><li>E->K at 334: in AT3D; type-II, MIM: 107300</li><li>Missing  at 344: in AT3D; type-I, MIM: 107300</li><li>S->P at 381: in AT3D; type-I, MIM: 107300</li><li>R->Q at 391, MIM: 107300</li><li>S->P at 397: in AT3D; type-I, MIM: 107300</li><li>D->H at 398: in AT3D; type-I, MIM: 107300</li><li>S->R at 412: in AT3D; type-I, MIM: 107300</li><li>A->T at 414: in AT3D; type-II; Hamilton/Glasgow-2; reduces interaction with thrombin by 90%, MIM: 107300</li><ul><li>A->K at 414: Reduces interaction with thrombin by 99%</li><li>A->Q at 414: Reduces interaction with thrombin by 80%</li></ul><li>A->P at 416: in AT3D; type-II; Charleville/Sudbury/Vicenza/Cambridge-1: in dbSNP rsrs28930978, MIM: 107300</li></ul><li>A->S at 416: in AT3D; type-II; Cambridge-2, MIM: 107300</li></ul><li>A->V at 419: in AT3D; type-I, MIM: 107300</li></ul><li>G->D at 424: in AT3D; type-II; Stockholm, MIM: 107300</li></ul><li>R->C at 425: in AT3D; type-II; Northwick-Park/Milano-1/Frankfurt-1; deprived of inhibitory activity, MIM: 107300</li></ul><li>R->H at 425: in AT3D; type-II; Glasgow/Sheffield/Chicago/Avranches/Kumamoto-2; increases affinity for heparin; deprived of inhibitory activity, MIM: 107300</li></ul><li>R->P at 425: in AT3D; type-II; Pescara; deprived of inhibitory of activity, MIM: 107300</li></ul><li>S->L at 426: in AT3D; type-II; Denver/Milano-2; deprived of inhibitory activity, MIM: 107300</li></ul><li>F->C at 434: in AT3D; type-II; Rosny, MIM: 107300</li></ul><li>F->L at 434: in AT3D; type-II; Maisons-Laffite, MIM: 107300</li></ul><li>F->S at 434: in AT3D; type-II; Torino, MIM: 107300</li></ul><li>A->T at 436: in AT3D; type-II; Oslo/Paris-3, MIM: 107300</li></ul><li>N->K at 437: in AT3D; type-II; La Rochelle, MIM: 107300</li></ul><li>R->G at 438: in AT3D; type-II, MIM: 107300</li></ul><li>R->M at 438: in AT3D; type-II; Kyoto, MIM: 107300</li></ul><li>P->L at 439: in AT3D; type-II; Utah; deprived of inhibitory activity, MIM: 107300</li></ul><li>P->T at 439: in AT3D; type-II; Budapest-5, MIM: 107300</li></ul><li>L->P at 441: in AT3D; type-II, MIM: 107300</li></ul><li>I->T at 453: in AT3D; type-I, MIM: 107300</li></ul><li>G->R at 456: in AT3D; type-I, MIM: 107300</li></ul><li>R->T at 457: in AT3D; type-II, MIM: 107300</li></ul><li>Missing  at 459-461: in AT3D; type-I, MIM: 107300</li></ul><li>A->D at 459: in AT3D; type-I, MIM: 107300</li></ul><li>P->L at 461: in AT3D; type-II; Budapest, MIM: 107300</li></ul><li>C->F at 462: in AT3D; type-I, MIM: 107300</li></ul>			heparin-binding	GO:0008201			P84122	Antithrombin-III deficiency (AT3D) [MIM:107300]	<li>rs2227606</li><li>rs2227624</li><li>rs28930978</li><li>rs28929468</li><li>rs28929469</li>	4
P01009	5265	<ul><li>M->V at 382: Oxidation-resistant inhibitor of therapeutic importance</li></ul>	<li>S->L at 4: in Z-Wrexham</li><li>D->A at 26: in V-Munich</li><li>T->A at 37: in dbSNP:rs11558262</li><li>A->T at 58: in M5-Karlsruhe</li><li>R->C at 63: in I: in dbSNP rsrs28931570</li><li>L->P at 65: in M-Procida: in dbSNP rsrs28931569</li><li>S->F at 69: in M6-Bonn</li><li>Missing  at 75: in M-Malton, M-Nichinan and M-Palermo; associated with very low serum levels of AAT</li><li>S->F at 77: in S-Iiyama: in dbSNP rsrs55819880</li><li>A->T at 84: in M6-Passau</li><li>G->E at 91: in M-Mineral springs; causes reduced AAT secretion: in dbSNP rsrs28931568</li><li>T->I at 92: in QO-Lisbon; deficient AAT with very low serum levels</li><li>T->M at 109: in Z-Bristol; deficient AA; disrupts the N-glycosylation site N-107</li><li>P->T at 112: in M5-Berlin</li><li>I->N at 116: in QO-Ludwigshafen: in dbSNP rsrs28931572</li><li>R->H at 125: in M2; associated with D-400; dbSNP:rs709932</li><li>G->S at 139: in QO-Newport; dbSNP:rs11558261</li><li>G->R at 172: in V and M-Nichinan</li><li>G->W at 172: in M2-Obernburg</li><li>Q->E at 180: in L-Frankfurt</li><li>QGKIVDLVK->GFQN at 190-198: in Aberrant form</li><li>E->K at 228: in X</li><li>V->A at 237: in M1A and Z; associated with K-366 in Z; dbSNP:rs6647</li><li>R->C at 247: in F: in dbSNP rsrs28929470</li><li>D->V at 280: in P-Duarte/P-Cardiff/P-Lowell; associated with H-415 in Y-Barcelona: in dbSNP rsrs28929472</li><li>E->V at 288: in S and T; dbSNP:rs17580</li><li>Missing  at 305: in Basque</li><li>S->F at 354: in S-Munich</li><li>A->T at 360: in W-Bethesda; dbSNP:rs1802959</li><li>D->N at 365: in P-St.Albans/P-Donauwoerth</li><li>E->K at 366: in Z/Z-Augsburg/Z-Tun; associated with A-237 in Z: in dbSNP rsrs28929474</li><li>M->R at 382: in Pittsburgh; has antithrombin activity</li><ul><li>M->V at 382: Oxidation-resistant inhibitor of therapeutic importance</li></ul><li>P->H at 386: in Sao Tome</li></ul><li>P->T at 386: in L-Offenbach</li></ul><li>E->K at 387: in Christchurch</li></ul><li>P->L at 393: in M-Heerlen</li></ul><li>E->D at 400: in M2 and M3; associated with H-125 in M2; dbSNP:rs1303</li></ul><li>P->H at 415: in Y-Barcelona; associated with V-280</li></ul>	secretion	GO:0046903					<li>P07758</li><li>P26595</li><li>P01009</li><li>P22599</li><li>P01010</li>		<li>rs709932</li><li>rs28931572</li><li>rs6647</li><li>rs17580</li><li>rs28929474</li><li>rs1303</li><li>rs28931568</li><li>rs28931569</li><li>rs28929472</li><li>rs28929470</li><li>rs55819880</li><li>rs11558262</li><li>rs1802959</li><li>rs11558261</li><li>rs28931570</li>	4
P01024	718	<ul><li>IL->RR at 1108-1109: Impaired binding of C3d to CR2; when associated with A-1163</li><li>N->A at 1163: Impaired binding of C3d to CR2; when associated with 1108-R-R-1109</li><li>N->R at 1163: Impaired binding of C3d to CR2</li></ul>	<li>R->G at 102: in allele C3F; associated with ARMD9; dbSNP:rs2230199</li><li>P->L at 314: in dbSNP:rs1047286</li><li>E->D at 469: in dbSNP:rs11569422</li><li>D->N at 549: in C3 deficiency; impairs secretion, MIM: 120700</li><li>R->K at 863: in dbSNP:rs11569472, MIM: 120700</li><li>D->N at 1216: in C3S, MIM: 120700</li><li>G->D at 1224: in dbSNP:rs11569534, MIM: 120700</li><li>R->Q at 1320: in C3 deficiency; allotype C3'F02'; may inhibit IC3B synthesis, MIM: 120700</li><li>I->T at 1367: in dbSNP:rs11569541, MIM: 120700</li><li>Q->R at 1521: in dbSNP:rs7256789, MIM: 120700</li><li>H->N at 1601: in dbSNP:rs1803225, MIM: 120700</li><li>S->R at 1619: in dbSNP:rs2230210, MIM: 120700</li>	secretion	GO:0046903	binding	GO:0005488			P20023	C3 deficiency [MIM:120700]	<li>rs11569422</li><li>rs1803225</li><li>rs2230199</li><li>rs7256789</li><li>rs11569534</li><li>rs2230210</li><li>rs11569472</li><li>rs11569541</li><li>rs1047286</li>	3
P01034	1471	<ul><li>A->S at 25: Shows a dual distribution to the Golgi apparatus and to the mitochondria</li></ul>	<li>A->T at 25: associated with ARMD11; dbSNP:rs1064039</li><ul><li>A->S at 25: Shows a dual distribution to the Golgi apparatus and to the mitochondria</li></ul><li>L->Q at 94: in AMYL6: in dbSNP rsrs28939068, MIM: 105150</li></ul>					Golgi apparatus	GO:0005794		Amyloidosis type 6 (AMYL6) [MIM:105150]	<li>rs1064039</li><li>rs28939068</li>	4
P01100	2353	<ul><li>K->R at 128: No change in sumoylation</li><li>K->R at 192: No change in sumoylation</li><li>T->D at 232: Decreased sumoylation levels</li><li>K->R at 265: Abolishes sumoylation. No change in nuclear location nor on protein stability. Increased AP1 transactivation activity when heterodimerized with cJUN</li><li>T->D at 325: No change in sumoylation levels</li><li>T->D at 331: No change in sumoylation levels</li><li>S->A at 362: Loss of protein stability. Reduced MOS/MAPK-mediated transforming ability; when associated with A-374</li><li>S->D at 362: Increased protein stability. Increased MOS/MAPK-mediated transforming ability and no change in sumoylation levels; when associated with D-374</li><li>S->A at 374: No change in sumoylation levels. Loss of protein stability. Reduced MOS/MAPK-mediated transforming ability; when associated with A-362</li><li>S->D at 374: Increased protein stability. Increased MOS/MAPK-mediated transforming ability and no change in sumoylation levels; when associated with D-362</li></ul>		sumoylation	GO:0016925					<li>P50118</li><li>Q00859</li><li>Q8AX01</li><li>Q8IU29</li><li>Q8AX00</li><li>Q9C5X8</li><li>Q9VRA2</li><li>Q9N0E7</li><li>P27638</li><li>Q655R6</li><li>P10741</li><li>Q14CH1</li><li>Q96EN8</li><li>Q9ZTS2</li><li>Q21657</li><li>Q2UH11</li><li>P00540</li><li>Q29GM0</li><li>O77627</li><li>P17325</li><li>Q4WPE6</li><li>O42781</li><li>P10650</li><li>Q8AX02</li><li>Q41276</li><li>Q8QHF0</li><li>P05412</li><li>P56432</li><li>P87347</li><li>P05627</li><li>P35631</li><li>Q90XV7</li><li>Q8LGM7</li><li>Q90XV6</li><li>Q90XV9</li><li>Q90XV8</li><li>Q9UV64</li>			1
P01111	4893	<ul><li>R->A at 164: Loss of GTP-binding activity</li></ul>	<li>G->C at 12: in leukemia</li><li>G->R at 13: in colorectal cancer</li><li>Q->K at 61: in neuroblastoma cell</li><li>Q->R at 61: in lung carcinoma cell and melanoma; dbSNP:rs11554290</li>			GTP-binding	GO:0005525					rs11554290	3
P01112	3265	<ul><li>S->N at 17: Dominant negative. Prevents PLCE1 EGF-induced recruitment to plasma membrane</li><li>N->G at 26: Loss of interaction with PLCE1; when associated with V-12</li><li>V->A at 29: No effect on interaction with PLCE1; when associated with V-12</li><li>Y->F at 32: Loss of interaction and recruitment to plasma membrane of PLCE1; when associated with V-12</li><li>P->G at 34: No effect on interaction with PLCE1; when associated with V-12</li><li>T->S at 35: Loss of interaction with PLCE1; when associated with V-12</li><li>E->G at 37: No effect on interaction with PLCE1; when associated with V-12</li><li>D->N at 38: No effect on interaction with PLCE1; when associated with V-12</li><li>S->C at 39: No effect on interaction with PLCE1; when associated with V-12</li><li>A->T at 59: Loss of GTPase activity and creation of an autophosphorylation site</li><li>Q->I at 61: Moderately increased transformation of cultured cell lines</li><li>Q->V at 61: Strongly increased transformation of cultured cell lines</li><li>A->T at 83: GTP-binding activity reduced by factor of 30</li><li>C->S at 118: Abolishes S-nitrosylation. No stimulation of guanine nucleotide exchange</li><li>D->N at 119: Loss of GTP-binding activity</li><li>T->I at 144: GTP-binding activity reduced by factor of 25</li><li>RQ->AV at 164-165: Loss of GTP-binding activity</li><li>C->S at 181: Exclusively localized in Golgi. Non-specifically localized on all endomembranes; when associated with S-184</li><li>C->S at 184: Mainly localized in Golgi. Non-specifically localized on all endomembranes; when associated with S-181</li></ul>	<li>G->A at 12: in Costello syndrome, MIM: 218040</li><li>G->C at 12: in Costello syndrome, MIM: 218040</li><li>G->E at 12: in Costello syndrome, MIM: 218040</li><li>G->S at 12: in Costello syndrome, OSCC and CMEMS, MIM: 218040</li><li>G->V at 12: in Costello syndrome, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39, MIM: 218040</li><li>G->C at 13: in Costello syndrome, MIM: 218040</li><li>G->D at 13: in Costello syndrome, MIM: 218040</li><li>Q->K at 22: in CMEMS, MIM: 218040</li><li>T->I at 58: in Costello syndrome, MIM: 218040</li><li>Q->K at 61: in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines: in dbSNP rsrs28933406, MIM: 218040</li><ul><li>Q->I at 61: Moderately increased transformation of cultured cell lines</li><li>Q->V at 61: Strongly increased transformation of cultured cell lines</li></ul><li>Q->L at 61: in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines, MIM: 218040</li><ul><li>Q->I at 61: Moderately increased transformation of cultured cell lines</li><li>Q->V at 61: Strongly increased transformation of cultured cell lines</li></ul><li>E->K at 63: in CMEMS, MIM: 218040</li></ul><li>K->R at 117: in Costello syndrome, MIM: 218040</li></ul><li>A->T at 146: in Costello syndrome, MIM: 218040</li></ul><li>A->V at 146: in Costello syndrome, MIM: 218040</li></ul>	<li>GTP hydrolysis</li><li>autophosphorylation</li>	<li>GO:0006184</li><li>GO:0046777</li>	<li>GTPase activity</li><li>GTP-binding</li>	<li>GO:0003924</li><li>GO:0005525</li>	plasma membrane	GO:0005886	<li>P04049</li><li>Q9P212</li><li>P26224</li><li>Q9BEA0</li><li>P01132</li><li>P01133</li><li>Q95ND4</li><li>Q5R5M7</li><li>Q00968</li><li>P07522</li><li>P05625</li>	<li>Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]</li><li>Costello syndrome [MIM:218040]</li>	rs28933406	4
P01116	3845	<ul><li>R->A at 164: Loss of GTP-binding activity</li></ul>	<li>G->GG at 10: in one individual with AML; expression in 3T3 cell causes cellular transformation; expression in COS cells activates the Ras-MAPK signaling pathway; lower GTPase activity; faster GDP dissociation rate</li><li>G->A at 12: in a colorectal cancer sample; somatic mutation</li><li>G->C at 12: in lung carcinoma; somatic mutation</li><li>G->D at 12: in pancreatic carcinoma, stomach cancer and lung carcinoma; somatic mutation</li><li>G->R at 12: in lung cancer and bladder cancer; somatic mutation</li><li>G->S at 12: in lung carcinoma and stomach cancer; somatic mutation</li><li>G->V at 12: in lung carcinoma, pancreatic carcinoma, colon cancer and stomach cancer; somatic mutation</li><li>G->D at 13: in a breast carcinoma cell line; somatic mutation</li><li>V->I at 14: in NS3; affects activity and impairs responsiveness to GTPase activating proteins, MIM: 609942</li><li>P->R at 34: in CFC syndrome, MIM: 115150</li><li>T->I at 58: in NS3; affects activity and impairs responsiveness to GTPase activating proteins, MIM: 609942</li><li>A->T at 59: in bladder cancer; somatic mutation, MIM: 609942</li><li>G->R at 60: in CFC syndrome, MIM: 115150</li><li>Q->H at 61: in lung carcinoma; dbSNP:rs17851045, MIM: 115150</li><li>Q->R at 61: in a colorectal cancer sample; somatic mutation, MIM: 115150</li><li>K->N at 117: in a colorectal cancer sample; somatic mutation, MIM: 115150</li><li>A->T at 146: in a colorectal cancer sample; somatic mutation, MIM: 115150</li>			<li>GTPase activity</li><li>GTP-binding</li>	<li>GO:0003924</li><li>GO:0005525</li>			<li>P20936</li><li>O71152</li><li>P15775</li><li>O42781</li><li>Q00859</li><li>P15779</li><li>P29076</li><li>P27638</li><li>P03967</li><li>P33277</li><li>Q07152</li><li>Q90056</li><li>P09851</li><li>Q5PEA9</li><li>P74873</li><li>Q04854</li><li>P48423</li><li>P74851</li><li>P50904</li><li>P22126</li><li>P06591</li>	<li>Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]</li><li>Noonan syndrome 3 (NS3) [MIM:609942]</li>	rs17851045	3
P01236	5617	<ul><li>G->D,F,L,N,R,V, at 157: Inhibits signaling via PRLR; mutant PRL acts as PRLR antagonist</li></ul>								<li>Q8HXS1</li><li>Q3Y4G6</li><li>Q7ZZV3</li><li>P14676</li><li>O62781</li><li>P12420</li><li>P35395</li><li>P21993</li><li>P10765</li><li>P06879</li><li>Q28235</li><li>Q28318</li><li>P33090</li><li>P87495</li><li>Q28172</li><li>P33091</li><li>P55151</li><li>P33096</li><li>Q28632</li><li>Q9YGV6</li><li>P34181</li><li>P33089</li><li>P14787</li><li>O46561</li><li>P37884</li><li>Q6JTA8</li><li>P01237</li><li>P29234</li><li>P01236</li><li>P29235</li><li>P01239</li><li>P48249</li><li>P01238</li><li>Q90374</li><li>Q6UC74</li><li>P46403</li><li>Q04594</li><li>Q91094</li><li>Q91513</li><li>P22393</li><li>O93337</li><li>P43299</li><li>P01240</li><li>P48096</li><li>P51904</li><li>P17572</li><li>P43001</li><li>Q9QZL1</li><li>P16471</li><li>O62819</li><li>P40424</li><li>P09585</li>			1
P01350	2520	<ul><li>A->D at 86: Small increase in ratio of gastrin-17 versus gastrin-34 production. No change in ratio of gastrin-17 versus gastrin-34 production; when associated with F-87</li><li>Y->F at 87: Small decrease in ratio of gastrin-17 versus gastrin-34 production. No change in ratio of gastrin-17 versus gastrin-34 production; when associated with D-86</li></ul>	<li>R->P at 3: in dbSNP:rs34309618</li>							<li>P01351</li><li>P01352</li><li>P01350</li><li>O02686</li><li>P04563</li><li>P04564</li><li>P01354</li><li>P55885</li><li>P01353</li><li>P48757</li>		rs34309618	3
P01375	7124	<ul><li>L->S at 105: Low activity</li><li>R->W at 108: Biologically inactive</li><li>L->F at 112: Biologically inactive</li><li>A->V at 160: Biologically inactive</li><li>S->F at 162: Biologically inactive</li><li>V->A,D at 167: Biologically inactive</li><li>E->K at 222: Biologically inactive</li></ul>	<li>P->L at 84: in dbSNP:rs4645843</li><li>A->T at 94: in dbSNP:rs1800620</li>									<li>rs1800620</li><li>rs4645843</li>	3
P01730	920	<ul><li>M->T at 432: No effect</li><li>S->A at 433: No effect</li><li>LL->AA at 438-439: Loss of Nef-induced CD4 down-modulation</li><li>S->L at 440: No effect</li><li>Missing at 457-458: Abolished interaction with SPG21 and induced T-cell activation</li></ul>	<li>K->E at 191: in dbSNP:rs28917504</li><li>F->S at 227: in dbSNP:rs11064419</li><li>R->W at 265: in OKT4-negative populations; dbSNP:rs28919570</li>	T-cell activation	GO:0042110					<li>Q9QBZ7</li><li>P20886</li><li>Q9QBZ3</li><li>O91087</li><li>P03406</li><li>P03404</li><li>P24103</li><li>Q75009</li><li>Q89842</li><li>Q77378</li><li>Q1A242</li><li>P03407</li><li>P20885</li><li>Q4R5H6</li><li>O70903</li><li>Q79671</li><li>Q9QPN3</li><li>P17664</li><li>O12165</li><li>Q9QBY1</li><li>Q29037</li><li>P04601</li><li>P04600</li><li>P05863</li><li>Q9IDV1</li><li>P15829</li><li>P17753</li><li>Q9QBY9</li><li>P04604</li><li>P04603</li><li>P04602</li><li>Q76639</li><li>P18092</li><li>P33705</li><li>Q74127</li><li>P05857</li><li>P12481</li><li>P20868</li><li>Q9Q713</li><li>P05856</li><li>P12482</li><li>P05859</li><li>Q1A260</li><li>P05858</li><li>P04324</li><li>O41804</li><li>P01730</li><li>P05855</li><li>P12447</li><li>P20867</li><li>P12480</li><li>P05854</li><li>P27970</li><li>Q5RES2</li><li>P11262</li><li>Q89868</li><li>Q9NZD8</li><li>O89293</li><li>P19546</li><li>P19545</li><li>P35959</li><li>P12479</li><li>P12478</li><li>P05860</li><li>P05861</li><li>P05862</li><li>Q9WC61</li><li>P19501</li><li>P31818</li><li>P46630</li><li>Q08338</li><li>Q9XS78</li><li>Q08336</li><li>Q08339</li><li>P05542</li><li>P24741</li><li>Q02840</li><li>P18038</li><li>P22378</li><li>Q70627</li><li>P18801</li><li>O89945</li><li>Q9QSQ6</li><li>P27979</li><li>P79185</li><li>P19032</li><li>P16004</li><li>Q08340</li><li>P16003</li><li>P79184</li><li>Q9WC70</li><li>Q8MJJ1</li>		<li>rs11064419</li><li>rs28917504</li><li>rs28919570</li>	3
P01732	925	<ul><li>G->R at 111: Prevents CD8 expression</li></ul>	<li>G->S at 111: in CD8 deficiency; prevents CD8 expression, MIM: 608957</li><ul><li>G->R at 111: Prevents CD8 expression</li></ul>								Familial CD8 deficiency (CD8 deficiency) [MIM:608957]		4
P02545	4000	<ul><li>C->S at 661: Loss of interaction with NARF</li></ul>	<li>T->I at 10: in an atypical progeroid patient; diagnosed as Seip syndrome: in dbSNP rsrs57077886</li><li>R->G at 25: in EDMD2: in dbSNP rsrs58327533, MIM: 181350</li><li>R->P at 25: in EDMD2: in dbSNP rsrs61578124, MIM: 181350</li><li>R->W at 28: in FPLD2: in dbSNP rsrs59914820, MIM: 151660</li><li>Missing  at 32: in EDMD2, MIM: 151660</li><li>E->D at 33: in CMT2; autosomal dominant form: in dbSNP rsrs57966821, MIM: 151660</li><li>E->G at 33: in EDMD, MIM: 151660</li><li>L->V at 35: in EDMD2: in dbSNP rsrs56694480, MIM: 181350</li><li>A->T at 43: in EDMD2: in dbSNP rsrs60446065, MIM: 181350</li><li>Y->C at 45: in EDMD: in dbSNP rsrs58436778, MIM: 181350</li><li>R->P at 50: in EDMD: in dbSNP rsrs60695352, MIM: 181350</li><li>R->S at 50: in EDMD2: in dbSNP rsrs59931416, MIM: 181350</li><li>A->P at 57: in WRN; atypical; dbSNP:rs28928903, MIM: 277700</li><li>R->G at 60: in CMD1A and FPLD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type; dbSNP:rs28928900, MIM: 151660</li><li>R->G at 62: in FPLD2: in dbSNP rsrs56793579, MIM: 151660</li><li>I->N at 63: in EDMD, MIM: 151660</li><li>I->S at 63: in EDMD: in dbSNP rsrs57793737, MIM: 151660</li><li>E->G at 65: in EDMD; unclassified muscular dystrophy, MIM: 151660</li><li>L->R at 85: in CMD1A; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type; dbSNP:rs28933090, MIM: 115200</li><li>R->L at 89: in CMD1A: in dbSNP rsrs59040894, MIM: 115200</li><li>K->E at 97: in CMD1A: in dbSNP rsrs59065411, MIM: 115200</li><li>Missing  at 112: in EDMD, MIM: 115200</li><li>R->L at 133: in LDHCP, MIM: 608056</li><li>R->P at 133: in EDMD2: in dbSNP rsrs60864230, MIM: 181350</li><li>L->P at 140: in EDMD, MIM: 181350</li><li>L->R at 140: in WRN: in dbSNP rsrs60652225, MIM: 277700</li><li>S->F at 143: in HGPS: in dbSNP rsrs58912633, MIM: 176670</li><li>S->P at 143: in CMD1A: in dbSNP rsrs61661343, MIM: 115200</li><li>E->K at 145: in HGPS; atypical: in dbSNP rsrs60310264, MIM: 176670</li><li>T->P at 150: in EDMD; autosomal dominant form: in dbSNP rsrs58917027, MIM: 176670</li><li>E->K at 161: in CMD1A: in dbSNP rsrs28933093, MIM: 115200</li><li>R->Q at 190: in EDMD2, MIM: 181350</li><li>R->W at 190: in CMD1A: in dbSNP rsrs59026483, MIM: 115200</li><li>D->G at 192: in CMD1A; dramatically increases the size of intranuclear speckles and reduced their number; this phenotype is only partially reversed by coexpression of the G-192 mutation and wild-type lamin-C; precludes insertion of lamin-C into the nuclear envelope when co-transfected with the G-192 LMNA; G-192 lamin-C expression totally disrupts the SUMO1 pattern: in dbSNP rsrs57045855, MIM: 115200</li><li>N->K at 195: in CMD1A; has a dramatically aberrant localization with decreased nuclear rim staining and formation of intranuclear foci; distribution of endogenous LMNA, LMNB1 and LMNB2 are altered in cells expressing this mutant; causes an increased loss of endogenous EMD from the nuclear envelope; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type: in dbSNP rsrs28933091, MIM: 115200</li><li>RLQT->S at 196-199: in EDMD2, MIM: 115200</li><li>E->G at 203: in CMD1A; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type; dbSNP:rs28933092, MIM: 115200</li><li>E->K at 203: in CMD1A: in dbSNP rsrs61195471, MIM: 115200</li><li>Missing  at 208: in LGMD1B, MIM: 115200</li><li>L->P at 215: in CMD1A: in dbSNP rsrs61295588, MIM: 115200</li><li>H->P at 222: in EDMD: in dbSNP rsrs58034145, MIM: 115200</li><li>H->Y at 222: in EDMD; dbSNP:rs28928901, MIM: 115200</li><li>D->N at 230: in FPLD2: in dbSNP rsrs61214927, MIM: 151660</li><li>G->E at 232: in EDMD: in dbSNP rsrs57207746, MIM: 151660</li><li>L->P at 248: in EDMD2: in dbSNP rsrs58850446, MIM: 181350</li><li>R->Q at 249: in EDMD: in dbSNP rsrs59332535, MIM: 181350</li><li>K->N at 260: in CMDA1, MIM: 181350</li><li>Missing  at 261: in EDMD, MIM: 181350</li><li>Y->C at 267: in EDMD2: in dbSNP rsrs57048196, MIM: 181350</li><li>Q->P at 294: in EDMD: in dbSNP rsrs61616775, MIM: 181350</li><li>R->C at 298: in CMT2B1: in dbSNP rsrs59885338, MIM: 605588</li><li>E->K at 317: in CMD1A: in dbSNP rsrs56816490, MIM: 115200</li><li>R->Q at 336: in EDMD: in dbSNP rsrs58105277, MIM: 115200</li><li>R->Q at 343: in EDMD: in dbSNP rsrs61177390, MIM: 115200</li><li>R->L at 349: in CMD1A: in dbSNP rsrs58789393, MIM: 115200</li><li>E->K at 358: in EDMD; has a dramatically aberrant localization with decreased nuclear rim staining and formation of intranuclear foci; distribution of endogenous LMNA, LMNB1 and LMNB2 are altered in cells expressing this mutant; einteracts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type: in dbSNP rsrs60458016, MIM: 115200</li><li>M->K at 371: in EDMD; has a dramatically aberrant localization with decreased nuclear rim staining and formation of intranuclear foci; distribution of endogenous LMNA, LMNB1 and LMNB2 are altered in cells expressing this mutant; causes an increased loss of endogenous EMD from the nuclear envelope; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type: in dbSNP rsrs59653062, MIM: 115200</li><li>R->H at 377: in LGMD1B: in dbSNP rsrs61672878, MIM: 159001</li><li>R->L at 377: in EDMD and LGMD1B, MIM: 159001</li><li>R->K at 386: in EDMD; has a dramatically aberrant localization with decreased nuclear rim staining and formation of intranuclear foci; distribution of endogenous LMNA, LMNB1 and LMNB2 are altered in cells expressing this mutant; causes an increased loss of endogenous EMD from the nuclear envelope; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type, MIM: 159001</li><li>R->C at 399: in FPLD2: in dbSNP rsrs58672172, MIM: 151660</li><li>R->C at 435: in CMD1A, MIM: 115200</li><li>D->V at 446: in EDMD2: in dbSNP rsrs58541611, MIM: 181350</li><li>R->W at 453: in EDMD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type: in dbSNP rsrs58932704, MIM: 181350</li><li>N->I at 456: in EDMD2: in dbSNP rsrs60992550, MIM: 181350</li><li>N->K at 456: in EDMD: in dbSNP rsrs61235244, MIM: 181350</li><li>G->D at 465: in FPLD2: in dbSNP rsrs61282106, MIM: 151660</li><li>I->T at 469: in EDMD: in dbSNP rsrs57394692, MIM: 151660</li><li>R->C at 471: in HGPS; dbSNP:rs28928902, MIM: 176670</li><li>Y->H at 481: in LGMD1B: in dbSNP rsrs57747780, MIM: 159001</li><li>R->L at 482: in FPLD2, MIM: 151660</li><li>R->Q at 482: in FPLD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type; dbSNP:rs11575937, MIM: 151660</li><li>R->W at 482: in FPLD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type: in dbSNP rsrs57920071, MIM: 151660</li><li>K->N at 486: in FPLD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type: in dbSNP rsrs59981161, MIM: 151660</li><li>W->S at 520: in EDMD; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type: in dbSNP rsrs58362413, MIM: 151660</li><li>R->C at 527: in HGPS, MIM: 176670</li><li>R->H at 527: in MADA, MIM: 248370</li><li>R->P at 527: in EDMD2 and FPLD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type: in dbSNP rsrs57520892, MIM: 151660</li><li>T->K at 528: in EDMD; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type: in dbSNP rsrs57629361, MIM: 151660</li><li>T->R at 528: in EDMD2, MIM: 181350</li><li>A->V at 529: in MADA: in dbSNP rsrs60580541, MIM: 248370</li><li>L->P at 530: in EDMD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type: in dbSNP rsrs60934003, MIM: 181350</li><li>R->C at 541: in apical left ventricular aneurysm: in dbSNP rsrs56984562, MIM: 181350</li><li>R->H at 541: in EDMD2: in dbSNP rsrs61444459, MIM: 181350</li><li>R->S at 541: in CMD1A; the phenotype is entirely reversed by coexpression of the S-541 mutation and wild-type lamin-C, MIM: 115200</li><li>K->N at 542: in HGPS: in dbSNP rsrs56673169, MIM: 176670</li><li>S->L at 573: in CMD1A, FPLD2 and tendinous calcinosis arthropathy and progeroid features: in dbSNP rsrs60890628, MIM: 611618</li><li>E->V at 578: in an atypical progeroid patient; diagnosed as Werner syndrome: in dbSNP rsrs61224243, MIM: 611618</li><li>R->H at 582: in FPLD2: in dbSNP rsrs57830985, MIM: 151660</li><li>G->S at 608: in HGPS: in dbSNP rsrs61064130, MIM: 176670</li><li>R->H at 624: in EDMD2, MIM: 181350</li><li>R->C at 644: in an atypical progeroid patient; diagnosed as Hutchinson-Gilford progeria syndrome, MIM: 181350</li>	localization	GO:0051179			nuclear envelope	GO:0005635	<li>Q2EF74</li><li>Q8WVD3</li><li>Q5R6J4</li><li>Q15013</li><li>Q03427</li><li>P55857</li><li>P14731</li><li>P14732</li><li>P63165</li><li>Q94F87</li><li>Q03252</li><li>Q14191</li><li>P02545</li><li>Q3ZD69</li><li>Q5E9D1</li><li>P20700</li><li>P13648</li><li>P50402</li><li>Q9MZD5</li>	<li>Tendinous calcinosis arthropathy and progeroid features (TCAPF) [MIM:611618]</li><li>Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]</li><li>Generalized lipoatrophy associated with diabetes, hepatic steatosis, hypertrophic cardiomyopathy and leukomelanodermic papules (LDHCP) [MIM:608056]</li><li>Charcot-Marie-Tooth disease type 2B1 (CMT2B1) [MIM:605588]</li><li>Limb-girdle muscular dystrophy type 1B (LGMD1B) [MIM:159001]</li><li>Werner syndrome (WRN) [MIM:277700]</li><li>Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370]</li><li>Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]</li><li>Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]</li><li>Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]</li>	<li>rs60864230</li><li>rs58362413</li><li>rs57045855</li><li>rs60890628</li><li>rs57920071</li><li>rs59332535</li><li>rs61064130</li><li>rs11575937</li><li>rs59885338</li><li>rs61214927</li><li>rs61616775</li><li>rs58932704</li><li>rs61295588</li><li>rs59026483</li><li>rs61661343</li><li>rs56816490</li><li>rs60934003</li><li>rs60992550</li><li>rs57629361</li><li>rs60580541</li><li>rs59981161</li><li>rs28933093</li><li>rs56694480</li><li>rs28933090</li><li>rs58327533</li><li>rs28933092</li><li>rs61282106</li><li>rs61578124</li><li>rs28933091</li><li>rs60458016</li><li>rs57048196</li><li>rs61224243</li><li>rs56793579</li><li>rs56984562</li><li>rs57394692</li><li>rs59914820</li><li>rs57966821</li><li>rs61444459</li><li>rs61195471</li><li>rs60652225</li><li>rs57830985</li><li>rs60310264</li><li>rs58672172</li><li>rs56673169</li><li>rs57793737</li><li>rs61177390</li><li>rs58436778</li><li>rs59653062</li><li>rs59065411</li><li>rs61672878</li><li>rs58912633</li><li>rs61235244</li><li>rs60695352</li><li>rs58034145</li><li>rs57520892</li><li>rs57207746</li><li>rs58789393</li><li>rs59931416</li><li>rs57747780</li><li>rs60446065</li><li>rs58850446</li><li>rs59040894</li><li>rs28928903</li><li>rs58541611</li><li>rs28928901</li><li>rs28928902</li><li>rs58917027</li><li>rs57077886</li><li>rs28928900</li><li>rs58105277</li>	3
P02786	7037	<ul><li>FSNL->YTRF at 9-12: Only 80% as active as wild-type receptor</li><li>YTRFSLARQVDGDNS at 20-34: No influence on endocytic uptake of the receptor</li><li>YTRF->PPGY at 20-23: Only 16% as active as wild-type receptor</li><li>Y->C at 20: Only 35% as active as wild-type receptor</li><li>Y->G at 20: Only 20% as active as wild-type receptor</li><li>T->F at 21: Only 88% as active as wild-type receptor</li><li>T->TA at 21: Only 14% as active as wild-type receptor</li><li>T->TAA at 21: Only 19% as active as wild-type receptor</li><li>F->Y at 23: Only 48% as active as wild-type receptor</li><li>GDNS->YTRF at 31-34: 2-fold increase of the endocytic uptake of the receptor</li><li>NADN->YTRF at 47-50: 1.27-fold increase of the endocytic uptake of the receptor</li><li>L->A at 619: 20-fold reduced affinity for transferrin receptor. No binding to HFE</li><li>V->A at 622: No significant effect on binding to transferrin nor HFE</li><li>R->A at 623: No significant effect on binding to transferrin nor HFE</li><li>R->A at 629: >5-fold reduced affinity for transferrin. >10-fold reduced affinity for HFE</li><li>Q->A at 640: No effect on binding to transferrin. >10-fold reduced affinity for HFE</li><li>W->A at 641: No significant effect on binding to transferrin nor HFE</li><li>Y->A at 643: 20-fold reduced affinity for transferrin. No binding to HFE</li><li>S->A at 644: No significant effect on binding to transferrin nor HFE</li><li>R->A,H at 646: No binding to transferrin</li><li>R->K at 646: 5% binding to transferrin</li><li>G->A at 647: Large effect on affinity for transferrin. 4-fold reduced affinity for HFE</li><li>D->A at 648: 16% binding to transferrin</li><li>D->E at 648: 57% binding to transferrin</li><li>F->Q at 650: >5-fold reduced affinity for transferrin. >10-fold reduced affinity for HFE</li></ul>	<li>G->S at 142: rare polymorphism; dbSNP:rs3817672</li><li>L->V at 212: in dbSNP:rs41301381</li><li>G->S at 420: in dbSNP:rs41295879</li><li>R->H at 677: in dbSNP:rs41298067</li>			binding	GO:0005488			<li>P02787</li><li>Q9GL41</li><li>Q9GL42</li><li>Q9GL43</li><li>P12346</li><li>P60018</li><li>P27425</li><li>P09571</li><li>Q921I1</li><li>Q29443</li><li>Q9GKZ0</li><li>Q30201</li><li>P19134</li>		<li>rs41301381</li><li>rs3817672</li><li>rs41295879</li><li>rs41298067</li>	3
P02788	4057	<ul><li>K->A at 92: Almost no protease activity</li><li>P->V at 270: No effect</li><li>S->A at 278: No protease activity</li></ul>	<li>A->T at 29: in dbSNP:rs1126477</li><li>K->R at 47: in dbSNP:rs1126478</li><li>I->T at 148: in dbSNP:rs1126479</li><li>G->C at 422: in dbSNP:rs1042055</li><li>E->D at 579: in dbSNP:rs2073495</li>							<li>P19028</li><li>P24107</li><li>Q9QBZ5</li><li>Q9QBZ1</li><li>P15833</li><li>Q79666</li><li>P18042</li><li>P03362</li><li>P04024</li><li>P03363</li><li>Q8AII1</li><li>P04023</li><li>P10978</li><li>O93215</li><li>P26810</li><li>Q1A249</li><li>P03356</li><li>P03355</li><li>O41798</li><li>P20892</li><li>Q9Y6I0</li><li>P10210</li><li>Q9QBY3</li><li>P03353</li><li>P16901</li><li>Q74120</li><li>Q09SZ9</li><li>Q89928</li><li>Q73368</li><li>P84454</li><li>Q9WC63</li><li>P20825</li><li>Q9IDV9</li><li>P0C211</li><li>P51518</li><li>P0C210</li><li>Q4U0X6</li><li>P12451</li><li>P07570</li><li>P28936</li><li>O89940</li><li>P24740</li><li>P26809</li><li>P26808</li><li>Q0R5R3</li><li>Q0R5R2</li><li>P18802</li><li>P19561</li><li>P10394</li><li>P16423</li><li>P63119</li><li>P19560</li><li>Q75002</li><li>P04589</li><li>P04587</li><li>P04588</li><li>Q9QSR3</li><li>O91080</li><li>P16046</li><li>P17757</li><li>P12497</li><li>P12499</li><li>P12498</li><li>P03311</li><li>P20875</li><li>P20876</li><li>P10273</li><li>Q9WC54</li><li>P10272</li><li>P10271</li><li>P10270</li><li>P19199</li><li>P05962</li><li>P18096</li><li>P10265</li><li>P04584</li><li>P11227</li><li>P04585</li><li>Q76634</li><li>Q8I7P9</li><li>Q9Q720</li><li>P14078</li><li>P31822</li><li>P11365</li><li>P35963</li><li>P14074</li><li>P05959</li><li>P63131</li><li>P04323</li><li>P10274</li><li>P21407</li><li>O89290</li><li>P35956</li><li>P05960</li><li>P05961</li><li>Q1A267</li><li>P63122</li><li>P63123</li><li>P63124</li><li>P63125</li><li>P63120</li><li>P63121</li><li>P03366</li><li>P03367</li><li>P03369</li><li>P63127</li><li>P63128</li><li>P63129</li><li>P03370</li><li>Q77373</li><li>P27502</li><li>P21414</li>		<li>rs1042055</li><li>rs2073495</li><li>rs1126478</li><li>rs1126479</li><li>rs1126477</li>	3
P03372	2099	<ul><li>S->A at 104: Loss of cyclin A-dependent induction of transcriptional activation</li><li>S->A at 106: Loss of cyclin A-dependent induction of transcriptional activation</li><li>S->A at 118: Decrease in phosphorylation</li><li>C->A at 447: Loss of hormone binding capacity and temperature-sensitive loss in DNA-binding</li></ul>	<li>H->Y at 6: in a breast cancer sample; somatic mutation</li><li>G->S at 77: in dbSNP:rs9340773</li><li>G->C at 160</li><li>M->I at 264: in a breast cancer sample; somatic mutation</li><li>V->E at 364: in estrogen resistance; dominant-negative inhibitor of the wild-type ESR</li><li>G->V at 400: destabilizes the receptor and decreases its affinity for estradiol at 25 degrees Celsius, but not at 4 degrees Celsius</li><li>D->RNQGKCVEGMVE at 411: in a 80 kDa form found in a breast cancer line; contains an in-frame duplication of exons 6 and 7</li>	phosphorylation	GO:0016310	<li>hormone binding</li><li>DNA-binding</li>	<li>GO:0042562</li><li>GO:0003677</li>			<li>P30274</li><li>P51943</li><li>Q91250</li><li>Q29040</li><li>P50242</li><li>P50241</li><li>P50240</li><li>P06212</li><li>Q53AD2</li><li>P49885</li><li>P49886</li><li>P43449</li><li>O42132</li><li>Q9QZJ5</li><li>Q9TV98</li><li>P49884</li><li>Q91424</li><li>P20248</li><li>Q92161</li><li>P16058</li><li>P03372</li><li>Q9PVZ9</li><li>Q9YH33</li><li>P57753</li><li>P37881</li><li>Q9YHZ7</li>		rs9340773	3
P03950	283	<ul><li>D->H,S,A at 140: 15- to 18-fold increase in RNase activity</li><li>Q->G at 141: Over 18-fold increase in RNase activity</li><li>IF->AA at 143-144: 3- to 5-fold increase in RNase activity</li></ul>	<li>F->S at 12: in ALS9, MIM: 611895</li><li>P->S at 20: in ALS9, MIM: 611895</li><li>Q->L at 36: in ALS9; reduced ribonucleolytic activity; low angiogenic activity; reduced mitogenic activity; wild type far-UV CD spectra, MIM: 611895</li><li>K->E at 41: in ALS9; reduced ribonucleolytic activity, MIM: 611895</li><li>K->I at 41: in ALS9; loss of angiogenic activity; reduced ribonucleolytic activity; retains nuclear translocation, MIM: 611895</li><li>S->N at 52: in ALS9; loss of angiogenic activity; reduced ribonucleolytic activity; unable to translocate to the nucleus, MIM: 611895</li><li>R->K at 55: in ALS9; marginally reduced ribonucleolytic activity; wild type far-UV CD spectra, MIM: 611895</li><li>C->W at 63: in ALS9; reduced ribonucleolytic activity; low angiogenic activity; reduced mitogenic activity; reduced thermal stability, MIM: 611895</li><li>K->I at 64: in ALS9; reduced ribonucleolytic activity; low angiogenic activity; reduced mitogenic activity; moderate reduction of thermal stability, MIM: 611895</li><li>I->V at 70: in some ALS9 patients; pathogenicity uncertain; reduced ribonucleolytic activity; moderate reduction of thermal stability, MIM: 611895</li><li>K->E at 84: in dbSNP:rs17560, MIM: 611895</li><li>P->L at 136: in ALS9; loss of angiogenic activity; reduced ribonucleolytic activity; unable to translocate to the nucleus, MIM: 611895</li><li>V->I at 137: in ALS9, MIM: 611895</li><li>H->R at 138: in ALS9, MIM: 611895</li>					nucleus	GO:0005634		Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	rs17560	3
P04004	7448	<ul><li>T->A at 69: Abolishes phosphorylation by CK2 and inhibits adhesion and spreading; when associated with A-76</li><li>T->E at 69: Abolishes phosphorylation by CK2 and enhances adhesion and spreading; when associated with E-76</li><li>T->A at 76: Abolishes phosphorylation by CK2 and inhibits adhesion and spreading; when associated with A-69</li><li>T->E at 76: Abolishes phosphorylation by CK2 and enhances adhesion and spreading; when associated with E-69</li></ul>	<li>A->S at 122: in dbSNP:rs2227741</li><li>R->Q at 268: in dbSNP:rs2227723</li><li>T->M at 400: in dbSNP:rs704</li>	phosphorylation	GO:0016310					<li>Q65ZV5</li><li>P43893</li><li>O51759</li>		<li>rs2227741</li><li>rs2227723</li><li>rs704</li>	3
P04062	2629	<ul><li>C->S at 43: Loss of activity</li><li>C->S at 57: Loss of activity</li><li>C->S at 62: Loss of activity</li><li>E->G at 379: Decreases activity 1000-fold</li></ul>	<li>V->L at 54: in GD, MIM: 230800</li><li>C->S at 55: in GD; neuronopathic and perinatal lethal forms; loss of activity, MIM: 230800</li><li>D->N at 63: in GD; type 1; very low activity, MIM: 230800</li><li>F->V at 76: in GD, MIM: 230800</li><li>E->K at 80: in GD; type 2; dbSNP:rs1141808, MIM: 230800</li><li>T->I at 82: in GD, MIM: 230800</li><li>G->E at 85: in GD, MIM: 230800</li><li>R->Q at 87: in GD; 20% of normal activity, MIM: 230800</li><li>R->W at 87: in GD; mild; dbSNP:rs1141814, MIM: 230800</li><li>M->T at 92: in dbSNP:rs3205619, MIM: 230800</li><li>K->N at 118: in GD; mild; 8% of normal activity; increases susceptibility to proteolytic degradation, MIM: 230800</li><li>A->T at 129: in GD, MIM: 230800</li><li>S->L at 146: in GD; type 2, MIM: 230800</li><li>G->E at 152: in GD, MIM: 230800</li><li>N->D at 156: in GD, MIM: 230800</li><li>I->S at 158: in GD; type 1; very low activity, MIM: 230800</li><li>I->T at 158: in GD, MIM: 230800</li><li>R->Q at 159: in GD; type 2; 13% of normal activity, MIM: 230800</li><li>R->W at 159: in GD; severe, MIM: 230800</li><li>P->L at 161: in GD; 16% of normal activity, MIM: 230800</li><li>P->S at 161: in GD; mild, MIM: 230800</li><li>M->V at 162: in GD; loss of activity; increases susceptibility to proteolytic degradation, MIM: 230800</li><li>D->V at 166: in GD; 9% of normal activity; increases susceptibility to proteolytic degradation, MIM: 230800</li><li>R->C at 170: in GD; type 1 and type 2, MIM: 230800</li><li>R->L at 170: in GD, MIM: 230800</li><li>T->I at 173: in GD, MIM: 230800</li><li>T->P at 173: in GD, MIM: 230800</li><li>A->E at 175: in GD, MIM: 230800</li><li>D->H at 179: in GD, MIM: 230800</li><li>K->Q at 196: in GD; severe, MIM: 230800</li><li>P->L at 198: in GD, MIM: 230800</li><li>P->T at 198: in GD, MIM: 230800</li><li>I->N at 200: in GD; 5% of normal activity, MIM: 230800</li><li>I->S at 200: in GD, MIM: 230800</li><li>H->P at 201: in GD, MIM: 230800</li><li>R->C at 209: in GD, MIM: 230800</li><li>R->P at 209: in GD, MIM: 230800</li><li>L->F at 213: in GD; 12% of normal activity, MIM: 230800</li><li>A->D at 215: in GD, MIM: 230800</li><li>P->S at 217: in GD; type 2, MIM: 230800</li><li>P->L at 221: in GD; type 1; very low activity, MIM: 230800</li><li>P->T at 221: in GD, MIM: 230800</li><li>W->R at 223: in GD; gene conversion, MIM: 230800</li><li>L->F at 224: in GD; 4% of normal activity; increases susceptibility to proteolytic degradation, MIM: 230800</li><li>N->K at 227: in GD; gene conversion; dbSNP:rs381418, MIM: 230800</li><li>N->S at 227: in GD; type 2; dbSNP:rs364897, MIM: 230800</li><li>G->V at 228: in GD, MIM: 230800</li><li>A->E at 229: in GD; type 2, MIM: 230800</li><li>A->T at 229: in GD, MIM: 230800</li><li>V->E at 230: in GD; type 1; very low activity, MIM: 230800</li><li>V->G at 230: in GD; mild; gene conversion; dbSNP:rs381427, MIM: 230800</li><li>G->E at 232: in GD; 7% of normal activity, MIM: 230800</li><li>G->E at 234: in GD; severe, MIM: 230800</li><li>G->W at 234: in GD, MIM: 230800</li><li>S->P at 235: in GD; type 2; gene conversion; dbSNP:rs1064644, MIM: 230800</li><li>K->E at 237: in GD; severe; loss of activity; increases susceptibility to proteolytic degradation, MIM: 230800</li><li>G->E at 241: in GD, MIM: 230800</li><li>G->R at 241: in GD; type 1 and type 2; gene conversion, MIM: 230800</li><li>Y->C at 244: in GD, MIM: 230800</li><li>Y->H at 251: in GD, MIM: 230800</li><li>F->I at 252: in GD; type 2; gene conversion; dbSNP:rs381737, MIM: 230800</li><li>F->Y at 255: in GD; mild, MIM: 230800</li><li>T->R at 270: in GD, MIM: 230800</li><li>S->P at 276: in GD, MIM: 230800</li><li>F->L at 290: in GD; perinatal lethal form, MIM: 230800</li><li>H->Q at 294: in GD; type 1 and type 2, MIM: 230800</li><li>R->Q at 296: in GD; type 2, MIM: 230800</li><li>F->L at 298: in GD; type 2; 4% of normal activity, MIM: 230800</li><li>L->I at 303: in GD; 5% of normal activity, MIM: 230800</li><li>G->D at 304: in GD, MIM: 230800</li><li>P->R at 305: in GD; mild, MIM: 230800</li><li>S->G at 310: in dbSNP:rs1057942, MIM: 230800</li><li>S->N at 310: in GD; less than 5% of normal activity, MIM: 230800</li><li>R->C at 324: in GD; type 1, MIM: 230800</li><li>R->H at 324: in GD; type 2, MIM: 230800</li><li>P->L at 328: in GD; mild, MIM: 230800</li><li>K->I at 342: in GD, MIM: 230800</li><li>Y->C at 343: in GD; type 2; 16% of normal activity; increases susceptibility to proteolytic degradation, MIM: 230800</li><li>A->V at 348: in GD, MIM: 230800</li><li>H->R at 350: in perinatal lethal GD, MIM: 230800</li><li>W->C at 351: in GD; mild, MIM: 230800</li><li>Y->H at 352: in GD, MIM: 230800</li><li>D->H at 354: in GD, MIM: 230800</li><li>A->D at 357: in GD, MIM: 230800</li><li>T->I at 362: in GD; 6% of normal activity, MIM: 230800</li><li>L->P at 363: in GD, MIM: 230800</li><li>G->R at 364: in GD; type 2, MIM: 230800</li><li>E->K at 365: in GD; mild; 42% of normal activity; dbSNP:rs2230288, MIM: 230800</li><li>R->H at 368: in dbSNP:rs1064648, MIM: 230800</li><li>A->T at 380: in GD, MIM: 230800</li><li>C->G at 381: in GD; type 2; loss of activity, MIM: 230800</li><li>E->K at 388: in GD; 12% of normal activity, MIM: 230800</li><li>V->L at 391: in GD, MIM: 230800</li><li>R->G at 392: in GD, MIM: 230800</li><li>R->W at 392: in GD; 5% of normal activity, MIM: 230800</li><li>R->Q at 398: in GD; mild, MIM: 230800</li><li>M->I at 400: in GD, MIM: 230800</li><li>Y->C at 402: in GD; 8% of normal activity; increases susceptibility to proteolytic degradation, MIM: 230800</li><li>S->T at 403: in GD; mild, MIM: 230800</li><li>S->G at 405: in GD, MIM: 230800</li><li>S->N at 405: in GD, MIM: 230800</li><li>T->M at 408: in GD; dbSNP:rs2230289, MIM: 230800</li><li>N->S at 409: in GD; common mutation; alters interaction with saposin-C and membranes and thereby reduces enzyme activity; mild, MIM: 230800</li><li>L->V at 410: in GD; 15% of normal activity; increases susceptibility to proteolytic degradation, MIM: 230800</li><li>V->L at 414: in GD; mild, MIM: 230800</li><li>G->S at 416: in GD; mild, MIM: 230800</li><li>W->G at 417: in GD, MIM: 230800</li><li>D->A at 419: in GD; type 2, MIM: 230800</li><li>D->H at 419: in GD; 4% of normal activity, MIM: 230800</li><li>D->N at 419: in GD, MIM: 230800</li><li>N->K at 421: in GD; 22% of normal activity, MIM: 230800</li><li>P->L at 426: in GD, MIM: 230800</li><li>G->E at 428: in GD; type 2, MIM: 230800</li><li>G->R at 429: in GD; 17% of normal activity, MIM: 230800</li><li>P->L at 430: in GD, MIM: 230800</li><li>N->I at 431: in GD; type 2, MIM: 230800</li><li>W->R at 432: in GD, MIM: 230800</li><li>V->L at 433: in GD; severe; 12% of normal activity, MIM: 230800</li><li>N->T at 435: in GD; mild, MIM: 230800</li><li>F->S at 436: in GD; 6% of normal activity; alters protein stability and increases susceptibility to proteolytic degradation, MIM: 230800</li><li>V->F at 437: in perinatal lethal GD, MIM: 230800</li><li>V->L at 437: in GD; type 3, MIM: 230800</li><li>D->N at 438: in GD; type 1 and type 2; 14% of normal activity; increases susceptibility to proteolytic degradation, MIM: 230800</li><li>D->Y at 438: in GD, MIM: 230800</li><li>P->L at 440: in GD, MIM: 230800</li><li>I->F at 441: in GD; type 3, MIM: 230800</li><li>I->T at 441: in GD; mild, MIM: 230800</li><li>D->H at 448: in GD; type 1 and type neuronopathic; at homozygosity it causes Gaucher disease type 3C; gene conversion; very low activity; alters protein stability; dbSNP:rs1064651, MIM: 230800</li><li>D->V at 448: in GD; severe; very low activity; alters protein stability, MIM: 230800</li><li>F->I at 450: in GD, MIM: 230800</li><li>Y->H at 451: in GD, MIM: 230800</li><li>K->Q at 452: in GD, MIM: 230800</li><li>P->R at 454: in GD; type 2, MIM: 230800</li><li>M->V at 455: in GD; loss of activity; increases susceptibility to proteolytic degradation, MIM: 230800</li><li>F->V at 456: in GD, MIM: 230800</li><li>Y->C at 457: in GD, MIM: 230800</li><li>G->D at 460: in GD; type 1; associated with R-490; loss of activity, MIM: 230800</li><li>K->E at 464: in GD; severe, MIM: 230800</li><li>L->P at 483: in GD; type 1 and type 2; common mutation; gene conversion; very low activity; alters protein stability, MIM: 230800</li><li>L->R at 483: in GD; severe, MIM: 230800</li><li>A->P at 485: in GD, MIM: 230800</li><li>H->R at 490: in GD; type 1; associated with D-460, MIM: 230800</li><li>A->P at 495: in GD; gene conversion; dbSNP:rs368060, MIM: 230800</li><li>L->P at 500: in GD; 10% of normal activity; increases susceptibility to proteolytic degradation, MIM: 230800</li><li>N->K at 501: in GD; type 2, MIM: 230800</li><li>R->C at 502: in GD; 37% of normal activity, MIM: 230800</li><li>R->P at 502: in GD; loss of activity; increases susceptibility to proteolytic degradation, MIM: 230800</li><li>L->P at 509, MIM: 230800</li><li>D->Y at 513: in GD; type 2, MIM: 230800</li><li>G->S at 517: in GD, MIM: 230800</li><li>T->I at 530: in GD; type 3; severe, MIM: 230800</li><li>R->C at 535: in GD; mild, MIM: 230800</li><li>R->H at 535: in GD; mild, MIM: 230800</li>					membranes	GO:0016020	<li>P26779</li><li>P07602</li><li>O13035</li><li>P20097</li>	Gaucher disease (GD) [MIM:230800]	<li>rs3205619</li><li>rs381737</li><li>rs368060</li><li>rs1141808</li><li>rs1064644</li><li>rs1141814</li><li>rs1064648</li><li>rs381427</li><li>rs364897</li><li>rs381418</li><li>rs2230289</li><li>rs2230288</li><li>rs1057942</li><li>rs1064651</li>	3
P04114	338	<ul><li>D->N at 483: Impairs protein secretion</li><li>D->Q at 483: Does not affect protein secretion</li><li>R->A at 490: Impairs protein secretion</li><li>R->K at 490: Does not affect protein secretion</li></ul>	<li>T->I at 98: in dbSNP:rs1367117</li><li>Y->H at 103: in dbSNP:rs9282603</li><li>P->S at 145: in dbSNP:rs6752026</li><li>N->K at 273: in dbSNP:rs1126419</li><li>I->T at 408: in dbSNP:rs12714225</li><li>R->W at 490: in FHBL; reduced protein secretion, MIM: 107730</li><ul><li>R->A at 490: Impairs protein secretion</li><li>R->K at 490: Does not affect protein secretion</li></ul><li>P->L at 554: in dbSNP:rs12714214, MIM: 107730</li></ul><li>A->V at 618: in dbSNP:rs679899, MIM: 107730</li></ul><li>V->I at 730: in dbSNP:rs12691202, MIM: 107730</li></ul><li>V->I at 733: in dbSNP:rs1800476, MIM: 107730</li></ul><li>T->N at 741: in dbSNP:rs12714192, MIM: 107730</li></ul><li>P->L at 877: in dbSNP:rs12714097, MIM: 107730</li></ul><li>G->S at 1086: in dbSNP:rs12720801, MIM: 107730</li></ul><li>D->H at 1113: in dbSNP:rs12713844, MIM: 107730</li></ul><li>R->H at 1128: in dbSNP:rs12713843, MIM: 107730</li></ul><li>E->Q at 1218: in dbSNP:rs1041956, MIM: 107730</li></ul><li>R->H at 1388: in dbSNP:rs13306187, MIM: 107730</li></ul><li>F->L at 1437: in dbSNP:rs1801697, MIM: 107730</li></ul><li>N->S at 1914: in dbSNP:rs1801699, MIM: 107730</li></ul><li>H->R at 1923: in dbSNP:rs533617, MIM: 107730</li></ul><li>V->L at 2092: in dbSNP:rs1041960, MIM: 107730</li></ul><li>D->H at 2299: in dbSNP:rs12713681, MIM: 107730</li></ul><li>T->A at 2365: in dbSNP:rs1041971, MIM: 107730</li></ul><li>A->D at 2456: in dbSNP:rs12713675, MIM: 107730</li></ul><li>F->C at 2564: in a colorectal cancer sample; somatic mutation, MIM: 107730</li></ul><li>E->K at 2566: in dbSNP:rs1801696, MIM: 107730</li></ul><li>Q->L at 2680: in dbSNP:rs1042013, MIM: 107730</li></ul><li>P->L at 2739: in dbSNP:rs676210, MIM: 107730</li></ul><li>N->H at 2785: in dbSNP:rs2163204, MIM: 107730</li></ul><li>A->T at 3121: in dbSNP:rs1801694, MIM: 107730</li></ul><li>H->N at 3182: in dbSNP:rs12720848, MIM: 107730</li></ul><li>S->G at 3279: in dbSNP:rs12720854, MIM: 107730</li></ul><li>S->P at 3294: in dbSNP:rs12720855, MIM: 107730</li></ul><li>H->D at 3319: in dbSNP rsrs1042021, MIM: 107730</li></ul><li>K->T at 3427: in dbSNP rsrs1042022, MIM: 107730</li></ul><li>E->Q at 3432: in dbSNP:rs1042023, MIM: 107730</li></ul><li>R->Q at 3527: in FDB; dbSNP:rs5742904, MIM: 144010</li></ul><li>R->C at 3558: in FDB; dbSNP:rs12713559, MIM: 144010</li></ul><li>R->Q at 3638: in dbSNP:rs1801701, MIM: 144010</li></ul><li>T->I at 3732: in dbSNP:rs1042025, MIM: 144010</li></ul><li>S->T at 3801: in dbSNP:rs12713540, MIM: 144010</li></ul><li>V->I at 3921, MIM: 144010</li></ul><li>T->A at 3945: in dbSNP:rs1801698, MIM: 144010</li></ul><li>L->F at 3949: in dbSNP:rs1042027, MIM: 144010</li></ul><li>F->Y at 3964: in dbSNP:rs1126468, MIM: 144010</li></ul><li>V->M at 4128: in dbSNP:rs1801703, MIM: 144010</li></ul><li>K->E at 4181: in dbSNP:rs1042031, MIM: 144010</li></ul><li>R->T at 4270: in dbSNP:rs1801702, MIM: 144010</li></ul><li>N->S at 4338: in dbSNP:rs1042034, MIM: 144010</li></ul><li>V->A at 4394: in dbSNP:rs12720843, MIM: 144010</li></ul><li>A->T at 4481: in dbSNP:rs1801695, MIM: 144010</li></ul><li>T->M at 4484: in dbSNP:rs12713450, MIM: 144010</li></ul>	protein secretion	GO:0009306					P81539	<li>Familial hypobetalipoproteinemia (FHBL) [MIM:107730]</li><li>Familial ligand-defective apolipoprotein B-100 (FDB) [MIM:144010]</li>	<li>rs1126468</li><li>rs1041971</li><li>rs12713675</li><li>rs5742904</li><li>rs12720848</li><li>rs12720801</li><li>rs12713559</li><li>rs12720843</li><li>rs1126419</li><li>rs533617</li><li>rs679899</li><li>rs1042013</li><li>rs12720854</li><li>rs12720855</li><li>rs1042025</li><li>rs1042027</li><li>rs1042021</li><li>rs676210</li><li>rs1042023</li><li>rs1042022</li><li>rs1801701</li><li>rs1801699</li><li>rs1801698</li><li>rs1801697</li><li>rs9282603</li><li>rs12714192</li><li>rs1801696</li><li>rs12713843</li><li>rs1801695</li><li>rs12713844</li><li>rs1801694</li><li>rs12691202</li><li>rs12713540</li><li>rs1041956</li><li>rs1801703</li><li>rs1801702</li><li>rs13306187</li><li>rs1367117</li><li>rs12714225</li><li>rs1042034</li><li>rs12713450</li><li>rs1042031</li><li>rs6752026</li><li>rs12714097</li><li>rs1041960</li><li>rs1800476</li><li>rs12713681</li><li>rs12714214</li><li>rs2163204</li>	4
P04150	2908	<ul><li>M->T at 1: Abolishes expression of A-type isoforms</li><li>M->T at 27: Abolishes expression of B-type isoforms</li><li>F->D at 191: Reduces transactivation by the ADA complex</li><li>I->D at 193: Reduces transactivation by the ADA complex</li><li>L->A at 194: Strongly reduces transactivation by the ADA complex; when associated with V-224 and F-225</li><li>L->E at 197: Reduces transactivation by the ADA complex</li><li>W->A at 213: Strongly reduces transactivation by the ADA complex</li><li>L->V at 224: Strongly reduces transactivation by the ADA complex; when associated with A-194 and F-225</li><li>L->F at 225: Strongly reduces transactivation by the ADA complex; when associated with A-194 and V-224</li><li>F->L at 235: Strongly reduces transactivation by the ADA complex; when associated with V-236</li><li>L->V at 236: Strongly reduces transactivation by the ADA complex; when associated with L-235</li><li>K->R at 277: Strongly reduces sumoylation. Almost complete loss of sumoylation; when associated with R-293</li><li>K->R at 293: Strongly reduces sumoylation. Almost complete loss of sumoylation; when associated with R-277</li><li>R->A at 585: Reduces activation mediated by ligand binding domain; when associated with A-590</li><li>D->A at 590: Reduces activation mediated by ligand binding domain; when associated with A-585</li><li>F->S at 602: Increases solubility. No effect on transactivation by dexamethasone</li><li>P->A at 625: Decreases transactivation by dexamethasone by 95%</li><li>I->A at 628: Decreases dimerization and transactivation by dexamethasone; when associated with S-602</li><li>K->R at 703: Slightly reduces sumoylation</li></ul>	<li>R->K at 23: in dbSNP:rs6190</li><li>F->L at 29</li><li>F->V at 65: in dbSNP:rs6192</li><li>L->F at 112</li><li>D->N at 233</li><li>N->S at 363: may increase sensitivity to exogenously administered glucocorticoids; may contribute to central obesity in men and show lack of association with other risk factors for coronary heart disease and diabetes mellitus; dbSNP:rs6195: in dbSNP rsrs56149945</li><li>C->Y at 421: in a glucocorticoid resistant leukemia cell line</li><li>R->H at 477: in glucocorticoid resistance, MIM: 138040</li><li>I->N at 559: in glucocorticoid resistance; interferes with translocation to the nucleus and thereby strongly reduces transcription activation. Is equally impaired in nuclear export. Acts as dominant negative mutant, MIM: 138040</li><li>V->A at 571: in pseudohermaphroditism; female with hypokalemia due to glucocorticoid resistance; 6-fold reduction in binding affinity compared with the wild-type receptor, MIM: 138040</li><li>D->V at 641: in glucocorticoid resistance, MIM: 138040</li><li>G->S at 679: in glucocorticoid resistance; has 50% binding affinity, MIM: 138040</li><li>V->I at 729: in glucocorticoid resistance, MIM: 138040</li><li>I->M at 747: in glucocorticoid resistance; alters interaction with NCOA2 and strongly reduces transcription activation; acts as dominant negative mutant, MIM: 138040</li><li>L->F at 753: in two glucocorticoid resistant leukemia cell lines lacking the normal allele, MIM: 138040</li>	<li>sumoylation</li><li>nuclear export</li><li>transcription</li>	<li>GO:0016925</li><li>GO:0051168</li><li>GO:0006350</li>	binding	GO:0005488	nucleus	GO:0005634	<li>Q5ZKP6</li><li>P56658</li><li>Q15596</li><li>P00813</li>	Glucocorticoid resistance [MIM:138040]	<li>rs56149945</li><li>rs6192</li><li>rs6190</li>	3
P04155	7031	<ul><li>C->S at 82: Abolishes inhibition of gastric cancer cell growth</li></ul>	<li>T->I at 22: in dbSNP:rs34795821</li><li>T->I at 32: in gastric carcinoma; somatic mutation</li><li>T->K at 32: in gastric carcinoma; somatic mutation</li><li>A->D at 34: in gastric carcinoma; somatic mutation. Abolishes inhibition of gastric cancer cell growth. Abolishes inhibition of apoptosis in gasterointestinal epithelial cells. Increases invasive activity in epithelial cells</li><li>E->K at 37: in gastric carcinoma; somatic mutation. Abolishes inhibition of gastric cancer cell growth. Abolishes inhibition of apoptosis in gasterointestinal epithelial cells. Increases invasive activity in epithelial cells</li><li>V->I at 46: in gastric adenoma; somatic mutation</li><li>G->V at 55: in gastric carcinoma; somatic mutation</li>	apoptosis	GO:0006915							rs34795821	3
P04179	6648	<ul><li>Y->F at 58: Loss of nitration. Enhanced dityrosine formation on peroxynitrite treatment</li></ul>	<li>S->I at 10: in dbSNP:rs5746096</li><li>A->V at 16: very frequent polymorphism; associated with susceptibility to diabetic nephropathy in Japanese patients with type 2 diabetes; dbSNP:rs4880</li><li>E->V at 66: in dbSNP:rs5746097</li><li>G->R at 76: in dbSNP:rs4987023</li><li>I->T at 82: in dbSNP:rs1141718</li><li>R->W at 156: in dbSNP:rs5746129</li>									<li>rs4880</li><li>rs5746129</li><li>rs5746096</li><li>rs1141718</li><li>rs5746097</li><li>rs4987023</li>	3
P04424	435	<ul><li>K->N at 51: 2-fold reduction in activity</li><li>H->Q at 89: 10-fold reduction in activity</li></ul>	<li>D->N at 31: in arginosuccinicaciduria, MIM: 207900</li><li>R->C at 95: in arginosuccinicaciduria; dbSNP:rs28940585, MIM: 207900</li><li>R->W at 111: in arginosuccinicaciduria, MIM: 207900</li><li>R->Q at 113: in arginosuccinicaciduria, MIM: 207900</li><li>V->M at 178: in arginosuccinicaciduria: in dbSNP rsrs28941473, MIM: 207900</li><li>T->S at 181: in a breast cancer sample; somatic mutation, MIM: 207900</li><li>R->Q at 186: in arginosuccinicaciduria, MIM: 207900</li><li>R->Q at 193: in arginosuccinicaciduria, MIM: 207900</li><li>G->V at 200: in a breast cancer sample; somatic mutation, MIM: 207900</li><li>R->W at 236: in arginosuccinicaciduria, MIM: 207900</li><li>Q->R at 286: in arginosuccinicaciduria; dbSNP:rs28941472, MIM: 207900</li><li>V->L at 335: in arginosuccinicaciduria, MIM: 207900</li><li>R->C at 379: in arginosuccinicaciduria: in dbSNP rsrs28940287, MIM: 207900</li><li>M->R at 382: in arginosuccinicaciduria, MIM: 207900</li><li>R->C at 385: in arginosuccinicaciduria: in dbSNP rsrs28940286, MIM: 207900</li><li>R->W at 456: in arginosuccinicaciduria, MIM: 207900</li>								Arginosuccinicaciduria [MIM:207900]	<li>rs28940287</li><li>rs28940286</li><li>rs28940585</li><li>rs28941473</li><li>rs28941472</li>	3
P04629	4914	<ul><li>Y->F at 496: No phosphorylation of SHC1</li><li>K->N at 544: Inactive</li><li>Y->F at 791: No phosphorylation of PLC-gamma-1. Lack of NGF-promoted increase of the peripherin protein</li></ul>	<li>G->E at 18: in dbSNP:rs1007211</li><li>Q->R at 80: in dbSNP rsrs55891455</li><li>R->S at 85</li><li>L->P at 93: in CIPA, MIM: 256800</li><li>A->V at 107: in an ovarian serous carcinoma sample; somatic mutation, MIM: 256800</li><li>L->P at 213: in CIPA, MIM: 256800</li><li>T->M at 237: in dbSNP rsrs55909005, MIM: 256800</li><li>V->G at 238: in dbSNP rsrs56000394, MIM: 256800</li><li>R->G at 260: in dbSNP rsrs35116695, MIM: 256800</li><li>R->Q at 444: in dbSNP rsrs56320207, MIM: 256800</li><li>R->C at 452: in dbSNP:rs34900547, MIM: 256800</li><li>G->R at 522: in CIPA, MIM: 256800</li><li>M->T at 566: in dbSNP rsrs55892037, MIM: 256800</li><li>G->R at 577: in CIPA; loss of function, MIM: 256800</li><li>M->V at 587: in CIPA, MIM: 256800</li><li>H->Y at 604: in dbSNP:rs6336, MIM: 256800</li><li>G->V at 613: in dbSNP:rs6339, MIM: 256800</li><li>R->W at 649: in CIPA, MIM: 256800</li><li>R->C at 654: in CIPA, MIM: 256800</li><li>D->Y at 674: in CIPA, MIM: 256800</li><li>P->L at 695: in CIPA, MIM: 256800</li><li>G->S at 714: in CIPA, MIM: 256800</li><li>R->P at 780: in CIPA; loss of function, MIM: 256800</li><li>R->Q at 780: in dbSNP rsrs35669708, MIM: 256800</li><li>V->I at 790: in dbSNP rsrs55948542, MIM: 256800</li>	phosphorylation	GO:0016310					<li>P21807</li><li>P17810</li><li>P10686</li><li>P08487</li><li>P21617</li><li>P19174</li><li>Q90W38</li><li>P15499</li><li>P48676</li><li>Q6YBR5</li><li>P41219</li><li>O42281</li><li>P52204</li><li>P17438</li><li>P15331</li><li>P23942</li><li>P35906</li><li>O42583</li><li>P34129</li><li>Q62077</li><li>P29353</li>	Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	<li>rs35669708</li><li>rs55891455</li><li>rs35116695</li><li>rs6339</li><li>rs34900547</li><li>rs55909005</li><li>rs6336</li><li>rs56320207</li><li>rs55892037</li><li>rs55948542</li><li>rs56000394</li><li>rs1007211</li>	3
P04637	7157	<ul><li>S->A at 46: Abolishes phosphorylation by HIPK2 and acetylation of K-382 by CREBBP</li><li>Missing at 46: Alters interaction with WWOX</li><li>T->A at 55: Blocks phosphorylation by TAF1</li><li>C->Y at 135: Decreased E6-mediated binding to E6-AP</li><li>P->D at 359: Abolishes binding to USP7</li><li>G->E at 361: Abolishes binding to USP7</li><li>S->A at 362: Abolishes binding to USP7</li><li>K->R at 370: Induces a decrease in methylation by SMYD2</li><li>K->R at 372: Induces a decrease in protein stabilization</li><li>K->A at 382: Abolishes acetylation by CREBBP</li><li>F->A at 385: Reduced SUMO1 conjugation</li><li>K->A at 386: Abolishes SUMO1 conjugation, in vitro and in vivo</li><li>T->A at 387: No effect SUMO1 conjugation</li><li>E->A at 388: Abolishes SUMO1 conjugation</li></ul>	<li>Q->H at 5: in a sporadic cancer; somatic mutation</li><li>S->L at 6: in a sporadic cancer; somatic mutation</li><li>D->H at 7: in a sporadic cancer; somatic mutation</li><li>P->S at 8: in a sporadic cancer; somatic mutation</li><li>V->I at 10: in a sporadic cancer; somatic mutation</li><li>E->K at 11: in sporadic cancers; somatic mutation</li><li>E->Q at 11: in sporadic cancers; somatic mutation</li><li>S->R at 15: in a sporadic cancer; somatic mutation</li><li>Q->L at 16: in a sporadic cancer; somatic mutation</li><li>E->D at 17: in a sporadic cancer; somatic mutation</li><li>K->N at 24: in a sporadic cancer; somatic mutation</li><li>E->A at 28: in a sporadic cancer; somatic mutation</li><li>NN->KD at 29-30: in a sporadic cancer; somatic mutation</li><li>V->I at 31: in sporadic cancers; somatic mutation</li><li>S->T at 33: in a sporadic cancer; somatic mutation</li><li>P->L at 34: in a sporadic cancer; somatic mutation</li><li>L->F at 35: in sporadic cancers; somatic mutation</li><li>P->L at 36: in a sporadic cancer; somatic mutation</li><li>S->P at 37: in a sporadic cancer; somatic mutation</li><li>S->T at 37: in a sporadic cancer; somatic mutation</li><li>A->P at 39: in a sporadic cancer; somatic mutation</li><li>A->V at 39: in a sporadic cancer; somatic mutation</li><li>D->Y at 42: in a sporadic cancer; somatic mutation</li><li>L->S at 43: in a sporadic cancer; somatic mutation</li><li>M->I at 44: in a sporadic cancer; somatic mutation</li><li>M->T at 44: in a sporadic cancer; somatic mutation</li><li>M->V at 44: in a sporadic cancer; somatic mutation</li><li>L->M at 45: in a sporadic cancer; somatic mutation</li><li>S->F at 46: in sporadic cancers; somatic mutation</li><ul><li>S->A at 46: Abolishes phosphorylation by HIPK2 and acetylation of K-382 by CREBBP</li><li>Missing at 46: Alters interaction with WWOX</li></ul><li>S->P at 46: in sporadic cancers; somatic mutation: in dbSNP rsrs1800371</li><ul><li>S->A at 46: Abolishes phosphorylation by HIPK2 and acetylation of K-382 by CREBBP</li><li>Missing at 46: Alters interaction with WWOX</li></ul><li>P->L at 47: in sporadic cancers; somatic mutation</li></ul><li>P->S at 47: in dbSNP:rs1800371</li></ul><li>D->G at 48: in a sporadic cancer; somatic mutation</li></ul><li>D->H at 49: in sporadic cancers; somatic mutation</li></ul><li>D->N at 49: in a sporadic cancer; somatic mutation</li></ul><li>D->Y at 49: in sporadic cancers; somatic mutation</li></ul><li>Q->H at 52: in a sporadic cancer; somatic mutation</li></ul><li>W->C at 53: in sporadic cancers; somatic mutation</li></ul><li>W->G at 53: in a sporadic cancer; somatic mutation</li></ul><li>F->L at 54: in a sporadic cancer; somatic mutation</li></ul><li>F->Y at 54: in a sporadic cancer; somatic mutation</li></ul><li>E->K at 56: in sporadic cancers; somatic mutation</li></ul><li>E->V at 56: in a sporadic cancer; somatic mutation</li></ul><li>P->Q at 58: in a sporadic cancer; somatic mutation</li></ul><li>P->T at 58: in a sporadic cancer; somatic mutation</li></ul><li>G->C at 59: in sporadic cancers; somatic mutation</li></ul><li>G->D at 59: in sporadic cancers; somatic mutation</li></ul><li>G->N at 59: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions</li></ul><li>P->L at 60: in sporadic cancers; somatic mutation</li></ul><li>P->Q at 60: in a sporadic cancer; somatic mutation</li></ul><li>P->S at 60: in a sporadic cancer; somatic mutation</li></ul><li>D->G at 61: in sporadic cancers; somatic mutation</li></ul><li>D->N at 61: in sporadic cancers; somatic mutation</li></ul><li>E->D at 62: in a sporadic cancer; somatic mutation</li></ul><li>A->T at 63: in a sporadic cancer; somatic mutation</li></ul><li>A->V at 63: in a sporadic cancer; somatic mutation</li></ul><li>R->T at 65: in a sporadic cancer; somatic mutation</li></ul><li>M->I at 66: in a sporadic cancer; somatic mutation</li></ul><li>M->R at 66: in a sporadic cancer; somatic mutation</li></ul><li>P->L at 67: in sporadic cancers; somatic mutation</li></ul><li>P->R at 67: in a sporadic cancer; somatic mutation</li></ul><li>P->S at 67: in sporadic cancers; somatic mutation</li></ul><li>E->G at 68: in sporadic cancers; somatic mutation</li></ul><li>E->Q at 68: in a sporadic cancer; somatic mutation</li></ul><li>A->D at 69: in a sporadic cancer; somatic mutation</li></ul><li>A->G at 69: in sporadic cancers; somatic mutation</li></ul><li>A->T at 69: in a sporadic cancer; somatic mutation</li></ul><li>A->V at 69: in a sporadic cancer; somatic mutation</li></ul><li>A->T at 70: in a sporadic cancer; somatic mutation</li></ul><li>P->T at 71: in a sporadic cancer; somatic mutation</li></ul><li>R->C at 72: in sporadic cancers; somatic mutation</li></ul><li>R->G at 72: in sporadic cancers; somatic mutation</li></ul><li>R->H at 72: in sporadic cancers; somatic mutation</li></ul><li>R->L at 72: in a sporadic cancer; somatic mutation</li></ul><li>R->P at 72: in dbSNP:rs1042522</li></ul><li>V->E at 73: in a sporadic cancer; somatic mutation</li></ul><li>V->L at 73: in sporadic cancers; somatic mutation</li></ul><li>V->M at 73: in sporadic cancers; somatic mutation</li></ul><li>A->T at 74: in a sporadic cancer; somatic mutation</li></ul><li>P->L at 75: in sporadic cancers; somatic mutation</li></ul><li>P->R at 75: in sporadic cancers; somatic mutation</li></ul><li>P->S at 75: in a sporadic cancer; somatic mutation</li></ul><li>A->G at 76: in a sporadic cancer; somatic mutation</li></ul><li>A->T at 76: in a sporadic cancer; somatic mutation</li></ul><li>P->A at 77: in sporadic cancers; somatic mutation</li></ul><li>A->V at 78: in sporadic cancers; somatic mutation</li></ul><li>A->G at 79: in a sporadic cancer; somatic mutation</li></ul><li>A->T at 79: in a sporadic cancer; somatic mutation</li></ul><li>A->V at 79: in sporadic cancers; somatic mutation</li></ul><li>P->L at 80: in a sporadic cancer; somatic mutation</li></ul><li>P->S at 80: in a sporadic cancer; somatic mutation</li></ul><li>T->I at 81: in sporadic cancers; somatic mutation</li></ul><li>P->L at 82: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->S at 82: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->E at 83: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>A->V at 83: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->G at 84: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->V at 84: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->L at 85: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->S at 85: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->V at 86: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>P->Q at 87: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->T at 88: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>A->V at 88: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->L at 89: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->S at 89: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->F at 90: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->Y at 90: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>W->C at 91: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>P->A at 92: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>P->L at 92: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>P->S at 92: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>L->M at 93: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>L->P at 93: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>S->L at 94: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->T at 94: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->F at 95: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->T at 95: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>S->C at 96: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>S->F at 96: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->P at 96: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>V->A at 97: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>V->F at 97: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>V->I at 97: in familial cancer not matching LFS; germline mutation and in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>P->L at 98: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->S at 98: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->F at 99: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->P at 99: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>Q->R at 100: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>K->N at 101: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>K->R at 101: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->I at 102: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Q->H at 104: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Q->L at 104: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>G->C at 105: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->D at 105: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->R at 105: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->S at 105: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>G->V at 105: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->G at 106: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>S->R at 106: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->C at 107: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>Y->D at 107: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->H at 107: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>G->D at 108: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>G->S at 108: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>F->C at 109: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>F->L at 109: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>F->S at 109: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->C at 110: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->G at 110: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>R->H at 110: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->L at 110: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs11540654, MIM: 151623</li></ul><li>R->P at 110: in sporadic cancers; somatic mutation: in dbSNP rsrs11540654, MIM: 151623</li></ul><li>R->S at 110: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>L->M at 111: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>L->P at 111: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->Q at 111: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->R at 111: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->D at 112: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->S at 112: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>F->C at 113: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>F->G at 113: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>F->I at 113: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>F->L at 113: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>F->S at 113: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>F->V at 113: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->Y at 115: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->C at 116: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->F at 116: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>S->P at 116: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>G->E at 117: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->R at 117: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->A at 118: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>T->I at 118: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->R at 118: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>A->D at 119: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>A->T at 119: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>K->E at 120: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->M at 120: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->Q at 120: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>K->R at 120: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->F at 121: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->L at 122: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>T->I at 123: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>T->N at 123: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>C->G at 124: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>C->R at 124: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->S at 124: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->W at 124: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>C->Y at 124: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>T->A at 125: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>T->K at 125: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->M at 125: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->P at 125: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>T->R at 125: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->C at 126: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->D at 126: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->F at 126: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>Y->G at 126: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>Y->H at 126: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->N at 126: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->S at 126: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->C at 127: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>S->F at 127: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->P at 127: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->T at 127: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->Y at 127: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->A at 128: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->L at 128: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->R at 128: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->S at 128: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->D at 129: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->G at 129: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>A->T at 129: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->V at 129: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->F at 130: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->H at 130: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->I at 130: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>L->P at 130: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->R at 130: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->V at 130: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->D at 131: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>N->H at 131: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->I at 131: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->K at 131: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->S at 131: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->T at 131: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>N->Y at 131: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>KM->NL at 132-133: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>K->E at 132: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->L at 132: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>K->M at 132: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->N at 132: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->Q at 132: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->R at 132: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->T at 132: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->W at 132: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>M->I at 133: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>M->K at 133: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>M->L at 133: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>M->R at 133: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>M->T at 133: in LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs28934873, MIM: 151623</li></ul><li>M->V at 133: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>F->C at 134: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>F->I at 134: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>F->L at 134: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>F->S at 134: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>F->V at 134: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->F at 135: in sporadic cancers; somatic mutation, MIM: 151623</li><ul><li>C->Y at 135: Decreased E6-mediated binding to E6-AP</li></ul><li>C->G at 135: in sporadic cancers; somatic mutation, MIM: 151623</li><ul><li>C->Y at 135: Decreased E6-mediated binding to E6-AP</li></ul><li>C->R at 135: in sporadic cancers; somatic mutation, MIM: 151623</li><ul><li>C->Y at 135: Decreased E6-mediated binding to E6-AP</li></ul><li>C->S at 135: in sporadic cancers; somatic mutation, MIM: 151623</li><ul><li>C->Y at 135: Decreased E6-mediated binding to E6-AP</li></ul><li>C->T at 135: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li><ul><li>C->Y at 135: Decreased E6-mediated binding to E6-AP</li></ul><li>C->W at 135: in sporadic cancers; somatic mutation, MIM: 151623</li><ul><li>C->Y at 135: Decreased E6-mediated binding to E6-AP</li></ul><li>C->Y at 135: in sporadic cancers; somatic mutation, MIM: 151623</li><ul><li>C->Y at 135: Decreased E6-mediated binding to E6-AP</li></ul><li>Q->E at 136: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Q->H at 136: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Q->K at 136: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>Q->P at 136: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Q->R at 136: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->M at 137: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->P at 137: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->Q at 137: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->V at 137: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->D at 138: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->P at 138: in LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs28934875, MIM: 151623</li></ul><li>A->S at 138: in LFS; germline mutation, MIM: 151623</li></ul><li>A->T at 138: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->V at 138: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->E at 139: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->N at 139: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->Q at 139: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->R at 139: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->T at 139: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->A at 140: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->I at 140: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->N at 140: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>T->P at 140: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>T->S at 140: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->A at 141: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>C->F at 141: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->G at 141: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->R at 141: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->S at 141: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->W at 141: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->Y at 141: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->A at 142: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->F at 142: in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>P->H at 142: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->L at 142: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->R at 142: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>P->S at 142: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->T at 142: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->A at 143: in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius, MIM: 151623</li></ul><li>V->E at 143: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->G at 143: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->L at 143: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->M at 143: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Q->H at 144: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Q->K at 144: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Q->L at 144: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Q->P at 144: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Q->R at 144: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->M at 145: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->P at 145: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->Q at 145: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->R at 145: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->V at 145: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>W->C at 146: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>W->G at 146: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>W->L at 146: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>W->R at 146: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>W->S at 146: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->A at 147: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->D at 147: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->E at 147: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->F at 147: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>V->G at 147: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->I at 147: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->A at 148: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>D->E at 148: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->G at 148: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>D->N at 148: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->V at 148: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->Y at 148: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->F at 149: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->P at 149: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->T at 149: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->A at 150: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>T->I at 150: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->K at 150: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->N at 150: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>T->P at 150: in a sporadic cancer; somatic mutation: in dbSNP rsrs28934874, MIM: 151623</li></ul><li>T->R at 150: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>P->A at 151: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->H at 151: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->L at 151: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->R at 151: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->S at 151: in LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs28934874, MIM: 151623</li></ul><li>P->T at 151: in LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs28934874, MIM: 151623</li></ul><li>P->A at 152: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->L at 152: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->Q at 152: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->R at 152: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->S at 152: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->T at 152: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->A at 153: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->F at 153: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>P->H at 153: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>P->L at 153: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->R at 153: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>P->S at 153: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->T at 153: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->A at 154: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->C at 154: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>G->D at 154: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->I at 154: in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>G->S at 154: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->V at 154: in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->A at 155: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->I at 155: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->M at 155: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>T->N at 155: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->P at 155: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->S at 155: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->C at 156: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->G at 156: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->H at 156: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->L at 156: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->P at 156: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->S at 156: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->A at 157: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->D at 157: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->F at 157: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->G at 157: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->I at 157: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->L at 157: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->C at 158: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->F at 158: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>R->G at 158: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->H at 158: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->L at 158: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->P at 158: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->Q at 158: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>R->S at 158: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->Y at 158: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>A->D at 159: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->F at 159: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>A->G at 159: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->P at 159: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->S at 159: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->T at 159: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->V at 159: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>MA->IP at 160-161: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>MA->IS at 160-161: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>MA->IT at 160-161: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>M->I at 160: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>M->K at 160: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>M->T at 160: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>M->V at 160: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->D at 161: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->F at 161: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>A->G at 161: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->P at 161: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->S at 161: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->T at 161: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->V at 161: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->F at 162: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->M at 162: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->N at 162: in a breast cancer with no family history; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->S at 162: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->T at 162: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->V at 162: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->C at 163: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->D at 163: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->F at 163: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>Y->H at 163: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->N at 163: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->S at 163: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->E at 164: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->M at 164: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->N at 164: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->Q at 164: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->R at 164: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->T at 164: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Q->E at 165: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Q->H at 165: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>Q->L at 165: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Q->P at 165: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Q->R at 165: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->A at 166: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->G at 166: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>S->L at 166: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->P at 166: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->T at 166: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>QH->HD at 167-168: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>QH->YL at 167-168: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>Q->H at 167: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Q->K at 167: in LFS; germline mutation and in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>Q->L at 167: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Q->R at 167: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>HM->LI at 168-169: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>H->D at 168: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->L at 168: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->N at 168: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->P at 168: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->Q at 168: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->R at 168: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->V at 168: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>H->Y at 168: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>MT->IS at 169-170: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>M->I at 169: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>M->K at 169: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>M->T at 169: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>M->V at 169: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->A at 170: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->K at 170: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>T->M at 170: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->P at 170: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>T->S at 170: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->A at 171: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>E->D at 171: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->G at 171: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->K at 171: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->Q at 171: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>E->V at 171: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->A at 172: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->D at 172: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->F at 172: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->G at 172: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->I at 172: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->A at 173: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->E at 173: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->G at 173: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->L at 173: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->M at 173: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->W at 173: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>R->G at 174: in LFS; germline mutation and in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>R->K at 174: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->M at 174: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->S at 174: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->T at 174: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>R->W at 174: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->C at 175: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->G at 175: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->H at 175: in LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs28934578, MIM: 151623</li></ul><li>R->L at 175: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->P at 175: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->Q at 175: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>R->S at 175: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>CP->FS at 176-177: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>C->F at 176: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->G at 176: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->R at 176: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->S at 176: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->W at 176: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->Y at 176: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->A at 177: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>P->F at 177: in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>P->H at 177: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->I at 177: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>P->L at 177: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->R at 177: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->S at 177: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->T at 177: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>HH->QS at 178-179: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>H->D at 178: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->HPHP at 178: in a Burkitt lymphoma, MIM: 151623</li></ul><li>H->L at 178: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>H->N at 178: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->P at 178: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->Q at 178: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->R at 178: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->Y at 178: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->D at 179: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->L at 179: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->N at 179: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->P at 179: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->Q at 179: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->R at 179: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->Y at 179: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->A at 180: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>E->D at 180: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->G at 180: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>E->K at 180: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->Q at 180: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->V at 180: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>R->C at 181: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->G at 181: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->H at 181: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->L at 181: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->P at 181: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->S at 181: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->R at 182: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->S at 182: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->Y at 182: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->L at 183: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->P at 183: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->G at 184: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->H at 184: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->N at 184: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->V at 184: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->Y at 184: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->C at 185: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>S->G at 185: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->I at 185: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->N at 185: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>S->R at 185: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->T at 185: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>D->E at 186: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>D->G at 186: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->H at 186: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->N at 186: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->V at 186: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->Y at 186: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>G->C at 187: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->D at 187: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->N at 187: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>G->R at 187: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->S at 187: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->V at 187: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->P at 188: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>L->V at 188: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->D at 189: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>A->G at 189: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->P at 189: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->S at 189: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>A->T at 189: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->V at 189: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->A at 190: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->H at 190: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>P->L at 190: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->R at 190: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->S at 190: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->T at 190: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->H at 191: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->L at 191: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->R at 191: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->S at 191: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->T at 191: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>QH->HN at 192-193: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>QH->HY at 192-193: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>Q->H at 192: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Q->K at 192: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>Q->L at 192: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Q->P at 192: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Q->R at 192: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->D at 193: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->L at 193: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->N at 193: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->P at 193: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->Q at 193: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->R at 193: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->Y at 193: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->F at 194: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->H at 194: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->I at 194: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->P at 194: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->R at 194: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->V at 194: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->F at 195: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->L at 195: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>I->N at 195: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->S at 195: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->T at 195: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->V at 195: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>I->Y at 195: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>R->G at 196: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->L at 196: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->P at 196: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->Q at 196: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->S at 196: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>V->E at 197: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->G at 197: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->L at 197: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->M at 197: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->D at 198: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>E->G at 198: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->K at 198: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->Q at 198: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->V at 198: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>G->A at 199: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>G->E at 199: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->R at 199: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->V at 199: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->D at 200: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->I at 200: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->K at 200: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>N->P at 200: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>N->S at 200: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->T at 200: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>LR->FC at 201-202: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>L->F at 201: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->P at 201: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>L->S at 201: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>R->C at 202: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->G at 202: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->H at 202: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->L at 202: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->P at 202: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->S at 202: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>VE->LV at 203-204: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>V->A at 203: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->E at 203: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->L at 203: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->M at 203: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->W at 203: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>E->A at 204: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->D at 204: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->G at 204: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->K at 204: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->Q at 204: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>E->V at 204: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>Y->C at 205: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->D at 205: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->F at 205: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->H at 205: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->N at 205: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->S at 205: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->F at 206: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>L->M at 206: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>DD->EY at 207-208: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>D->E at 207: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->G at 207: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->H at 207: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->N at 207: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->V at 207: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>D->Y at 207: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>D->E at 208: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->G at 208: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->H at 208: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>D->I at 208: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>D->N at 208: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->V at 208: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->Y at 208: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>R->I at 209: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->K at 209: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->S at 209: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>R->T at 209: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->D at 210: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->H at 210: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->I at 210: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>N->K at 210: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>N->S at 210: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->T at 210: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>N->Y at 210: in a familial cancer not matching LFS; germline mutation, MIM: 151623</li></ul><li>T->A at 211: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->I at 211: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->N at 211: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->P at 211: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>T->S at 211: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>F->I at 212: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>F->L at 212: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>F->S at 212: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>F->V at 212: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>F->Y at 212: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->G at 213: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->L at 213: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->P at 213: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->Q at 213: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->W at 213: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->D at 214: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->P at 214: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>H->Q at 214: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->R at 214: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->Y at 214: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->C at 215: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->G at 215: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->I at 215: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->K at 215: in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>S->N at 215: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->R at 215: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->T at 215: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->A at 216: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->E at 216: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->G at 216: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->L at 216: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->M at 216: in sporadic cancers; somatic mutation: in dbSNP rsrs35163653, MIM: 151623</li></ul><li>V->W at 216: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>V->A at 217: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->E at 217: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->G at 217: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->I at 217: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>V->L at 217: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->M at 217: in dbSNP:rs35163653, MIM: 151623</li></ul><li>V->A at 218: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->E at 218: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->G at 218: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->L at 218: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->M at 218: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->C at 219: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>P->H at 219: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>P->L at 219: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->R at 219: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>P->S at 219: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->T at 219: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->C at 220: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->D at 220: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->F at 220: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>Y->H at 220: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->N at 220: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->S at 220: in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->A at 221: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->D at 221: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->G at 221: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->K at 221: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->Q at 221: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->A at 222: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>P->L at 222: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->Q at 222: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->R at 222: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>P->S at 222: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->T at 222: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->A at 223: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>P->H at 223: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->L at 223: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->R at 223: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>P->S at 223: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>P->T at 223: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>E->D at 224: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->G at 224: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->K at 224: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->V at 224: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>V->A at 225: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->D at 225: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>V->F at 225: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->G at 225: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>V->I at 225: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->L at 225: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>G->A at 226: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->D at 226: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->N at 226: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>G->S at 226: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->V at 226: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->C at 227: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->F at 227: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->P at 227: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>S->T at 227: in LFS; germline mutation and in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>D->A at 228: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->E at 228: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->G at 228: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->H at 228: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->N at 228: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->P at 228: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>D->V at 228: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->Y at 228: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->G at 229: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>C->N at 229: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>C->R at 229: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->S at 229: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->Y at 229: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->A at 230: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->I at 230: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->N at 230: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->P at 230: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->S at 230: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->A at 231: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->I at 231: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->N at 231: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->S at 231: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->F at 232: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->L at 232: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->N at 232: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->S at 232: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->T at 232: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->V at 232: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->D at 233: in LFS; germline mutation and in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>H->L at 233: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->P at 233: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>H->Q at 233: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->R at 233: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->Y at 233: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->C at 234: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->D at 234: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->F at 234: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>Y->H at 234: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->K at 234: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>Y->N at 234: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->Q at 234: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>Y->S at 234: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->D at 235: in an adrenocortical carcinoma with no family history; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->H at 235: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>N->I at 235: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->M at 235: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>N->S at 235: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->T at 235: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->Y at 235: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->C at 236: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->D at 236: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->F at 236: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>Y->H at 236: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->N at 236: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Y->S at 236: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>M->I at 237: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>M->K at 237: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>M->L at 237: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>M->R at 237: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>M->T at 237: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>M->V at 237: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->F at 238: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->G at 238: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->H at 238: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>C->R at 238: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->S at 238: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->W at 238: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->Y at 238: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->D at 239: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->H at 239: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>N->I at 239: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>N->K at 239: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->S at 239: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->T at 239: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->Y at 239: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->C at 240: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->G at 240: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->I at 240: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->N at 240: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->P at 240: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>S->R at 240: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->T at 240: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->A at 241: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->C at 241: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->F at 241: in LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs28934573, MIM: 151623</li></ul><li>S->P at 241: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->T at 241: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->Y at 241: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->F at 242: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->G at 242: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->R at 242: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->S at 242: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->W at 242: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->Y at 242: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>MG->IC at 243-244: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>MG->IS at 243-244: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>M->I at 243: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>M->K at 243: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>M->L at 243: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>M->R at 243: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>M->T at 243: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>M->V at 243: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->A at 244: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->C at 244: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->D at 244: in LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs28934572, MIM: 151623</li></ul><li>G->E at 244: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>G->R at 244: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->S at 244: in sporadic cancers; somatic mutation: in dbSNP rsrs28934575, MIM: 151623</li></ul><li>G->V at 244: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->A at 245: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->C at 245: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->D at 245: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->E at 245: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>G->F at 245: in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>G->H at 245: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>G->L at 245: in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>G->N at 245: in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>G->R at 245: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->S at 245: in LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs28934575, MIM: 151623</li></ul><li>G->V at 245: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>M->I at 246: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>M->K at 246: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>M->L at 246: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>M->R at 246: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>M->T at 246: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>M->V at 246: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>NR->IP at 247-248: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>NR->KW at 247-248: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->D at 247: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->F at 247: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>N->I at 247: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->K at 247: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->S at 247: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->T at 247: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->Y at 247: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->C at 248: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>R->G at 248: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->L at 248: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->P at 248: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->Q at 248: in LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs11540652, MIM: 151623</li></ul><li>R->W at 248: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>RP->SA at 249-250: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>RP->SS at 249-250: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->G at 249: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->I at 249: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>R->K at 249: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->M at 249: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->N at 249: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>R->S at 249: in sporadic cancers; somatic mutation: in dbSNP rsrs28934571, MIM: 151623</li></ul><li>R->T at 249: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->W at 249: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->A at 250: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->F at 250: in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>P->H at 250: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->L at 250: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->N at 250: in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>P->Q at 250: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->S at 250: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->T at 250: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->F at 251: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->L at 251: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->M at 251: in LFS; germline mutation, MIM: 151623</li></ul><li>I->N at 251: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->S at 251: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->T at 251: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->V at 251: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->F at 252: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->H at 252: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>L->I at 252: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->P at 252: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->V at 252: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>T->A at 253: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->I at 253: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->N at 253: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->P at 253: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->S at 253: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->D at 254: in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>I->F at 254: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>I->L at 254: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>I->M at 254: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>I->N at 254: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->S at 254: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->T at 254: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->V at 254: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->F at 255: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->M at 255: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->N at 255: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->S at 255: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->T at 255: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->V at 255: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->I at 256: in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->K at 256: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->P at 256: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->S at 256: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->P at 257: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->Q at 257: in LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs28934577, MIM: 151623</li></ul><li>L->R at 257: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->V at 257: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->A at 258: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->D at 258: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->G at 258: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->K at 258: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->L at 258: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>E->Q at 258: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->V at 258: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->A at 259: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>D->E at 259: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->G at 259: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->H at 259: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->N at 259: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->P at 259: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>D->S at 259: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>D->V at 259: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->Y at 259: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->A at 260: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->C at 260: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->F at 260: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->P at 260: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->T at 260: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>S->Y at 260: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->C at 261: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>S->G at 261: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->I at 261: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->N at 261: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>S->R at 261: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>GN->PD at 262-263: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>G->C at 262: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>G->D at 262: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->H at 262: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>G->S at 262: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->V at 262: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->D at 263: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->H at 263: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->I at 263: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->K at 263: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>N->S at 263: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>L->I at 264: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->P at 264: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>L->Q at 264: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>L->R at 264: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->V at 264: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>L->M at 265: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->P at 265: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->Q at 265: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->R at 265: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->A at 266: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->E at 266: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->R at 266: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->V at 266: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->G at 267: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->H at 267: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>R->P at 267: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->Q at 267: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->W at 267: in sporadic cancers; somatic mutation: in dbSNP rsrs55832599, MIM: 151623</li></ul><li>N->F at 268: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>N->H at 268: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->I at 268: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->K at 268: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>N->S at 268: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->Y at 268: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>S->C at 269: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->G at 269: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->I at 269: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>S->N at 269: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->R at 269: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->T at 269: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>F->C at 270: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>F->I at 270: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>F->L at 270: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>F->S at 270: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>F->V at 270: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>F->Y at 270: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->A at 271: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->D at 271: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->G at 271: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->K at 271: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->P at 271: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>E->Q at 271: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->R at 271: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>E->V at 271: in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->A at 272: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->E at 272: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->G at 272: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->L at 272: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->M at 272: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->C at 273: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->G at 273: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->H at 273: in LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs28934576, MIM: 151623</li></ul><li>R->L at 273: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->N at 273: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>R->P at 273: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->Q at 273: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->S at 273: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->Y at 273: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>V->A at 274: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->D at 274: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->F at 274: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->G at 274: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->I at 274: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>V->L at 274: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->F at 275: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->G at 275: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->R at 275: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->S at 275: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->W at 275: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->Y at 275: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->D at 276: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->G at 276: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->P at 276: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->S at 276: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->T at 276: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->V at 276: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->F at 277: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->G at 277: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->R at 277: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->S at 277: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->W at 277: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>C->Y at 277: in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->A at 278: in sporadic cancers; somatic mutation: in dbSNP rsrs17849781, MIM: 151623</li></ul><li>P->F at 278: in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>P->H at 278: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->L at 278: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->R at 278: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->S at 278: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->T at 278: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->E at 279: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->R at 279: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->V at 279: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->W at 279: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->G at 280: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->I at 280: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->K at 280: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->P at 280: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>R->S at 280: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->T at 280: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>DR->EW at 281-282: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->A at 281: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->E at 281: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->G at 281: in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->H at 281: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->N at 281: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->R at 281: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>D->V at 281: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->Y at 281: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->G at 282: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->H at 282: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>R->L at 282: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->P at 282: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->Q at 282: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->W at 282: in LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs28934574, MIM: 151623</li></ul><li>R->C at 283: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->G at 283: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->H at 283: in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->L at 283: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->P at 283: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->S at 283: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>T->A at 284: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->I at 284: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->K at 284: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->P at 284: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->A at 285: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>E->D at 285: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->G at 285: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->K at 285: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->Q at 285: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->V at 285: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->A at 286: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->D at 286: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->G at 286: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->K at 286: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->L at 286: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>E->Q at 286: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->V at 286: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->A at 287: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>E->D at 287: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->G at 287: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->K at 287: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->V at 287: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->D at 288: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>N->K at 288: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->S at 288: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->T at 288: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->Y at 288: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->F at 289: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->H at 289: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->P at 289: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->R at 289: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>L->V at 289: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->C at 290: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->H at 290: in LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs55819519, MIM: 151623</li></ul><li>R->L at 290: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->E at 291: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->M at 291: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->N at 291: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->Q at 291: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->R at 291: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->T at 291: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->E at 292: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->G at 292: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>K->I at 292: in LFS; germline mutation and in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>K->N at 292: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->Q at 292: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>K->R at 292: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->T at 292: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->A at 293: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>G->R at 293: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->V at 293: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->W at 293: in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->A at 294: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>E->D at 294: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->G at 294: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->K at 294: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->Q at 294: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->V at 294: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->H at 295: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>P->L at 295: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->R at 295: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>P->S at 295: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->C at 296: in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>H->D at 296: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->L at 296: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->N at 296: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->P at 296: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>H->Q at 296: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->R at 296: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>H->Y at 296: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->D at 297: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>H->N at 297: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>H->P at 297: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->R at 297: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>H->Y at 297: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->A at 298: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>E->D at 298: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->K at 298: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->Q at 298: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->V at 298: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->P at 299: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->Q at 299: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->R at 299: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>L->V at 299: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>P->A at 300: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->L at 300: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->R at 300: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>P->S at 300: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->A at 301: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->L at 301: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->Q at 301: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->S at 301: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->T at 301: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>G->A at 302: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>G->E at 302: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->R at 302: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>G->V at 302: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>S->C at 303: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->I at 303: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->N at 303: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->T at 303: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->A at 304: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->I at 304: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->N at 304: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>T->S at 304: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>K->E at 305: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>K->M at 305: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->N at 305: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->R at 305: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->T at 305: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>R->P at 306: in LFS; germline mutation and in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>R->Q at 306: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->P at 307: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>A->S at 307: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>A->T at 307: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->M at 308: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->V at 308: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>P->R at 309: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>P->S at 309: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->I at 310: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>N->T at 310: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->H at 311: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>N->K at 311: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>N->S at 311: in a sporadic cancer; somatic mutation: in dbSNP rsrs56184981, MIM: 151623</li></ul><li>N->T at 311: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->I at 312: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>T->S at 312: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>S->C at 313: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>S->I at 313: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>S->N at 313: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>S->R at 313: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>S->F at 314: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>S->C at 315: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>S->F at 315: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>S->P at 315: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>P->L at 316: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>P->T at 316: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>Q->H at 317: in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>Q->K at 317: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Q->L at 317: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>Q->P at 317: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>Q->R at 317: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->L at 318: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->E at 319: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->N at 319: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>K->R at 319: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>K->N at 320: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>K->E at 321: in kidney cancer; germline mutation, MIM: 151623</li></ul><li>K->R at 321: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>P->L at 322: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>P->R at 322: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->G at 323: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>L->M at 323: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>L->P at 323: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>L->R at 323: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>L->V at 323: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>D->E at 324: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>D->S at 324: in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions, MIM: 151623</li></ul><li>D->Y at 324: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>G->A at 325: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>G->E at 325: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->V at 325: in LFS; germline mutation: in dbSNP rsrs28934271, MIM: 151623</li></ul><li>E->G at 326: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>Y->H at 327: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>Y->S at 327: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>F->L at 328: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>F->S at 328: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>F->V at 328: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>T->I at 329: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>T->S at 329: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>L->H at 330: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->P at 330: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>L->R at 330: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Q->H at 331: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Q->P at 331: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>Q->R at 331: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>I->V at 332: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>G->V at 334: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->W at 334: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>R->G at 335: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>R->H at 335: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>R->L at 335: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>R->C at 337: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->H at 337: in LFS; germline mutation and in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->L at 337: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->P at 337: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>F->I at 338: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>F->L at 338: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>E->K at 339: in a sporadic cancer; somatic mutation: in dbSNP rsrs17882252, MIM: 151623</li></ul><li>E->Q at 339: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>F->C at 341: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->L at 342: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>R->P at 342: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>R->Q at 342: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>E->G at 343: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->P at 344: in LFS; germline mutation and in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>L->R at 344: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>E->A at 346: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>A->G at 347: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>A->T at 347: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>L->F at 348: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>L->S at 348: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>E->D at 349: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>D->H at 352: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>A->T at 353: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>Q->E at 354: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>Q->K at 354: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>Q->R at 354: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>G->A at 356: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>G->W at 356: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>E->D at 358: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>E->K at 358: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>G->A at 360: in dbSNP:rs35993958, MIM: 151623</li></ul><li>G->V at 360: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>R->K at 363: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>A->P at 364: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>A->T at 364: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>A->V at 364: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>H->R at 365: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>H->Y at 365: in a familial cancer not matching LFS; germline mutation and in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>S->A at 366: in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation: in dbSNP rsrs17881470, MIM: 151623</li></ul><li>K->Q at 370: in a sporadic cancer; somatic mutation, MIM: 151623</li><ul><li>K->R at 370: Induces a decrease in methylation by SMYD2</li></ul><li>S->A at 376: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>S->T at 376: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>R->H at 379: in sporadic cancers; somatic mutation, MIM: 151623</li></ul><li>F->L at 385: in a sporadic cancer; somatic mutation, MIM: 151623</li><ul><li>F->A at 385: Reduced SUMO1 conjugation</li></ul><li>G->W at 389: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul><li>S->L at 392: in a sporadic cancer; somatic mutation, MIM: 151623</li></ul>	<li>phosphorylation</li><li>conjugation</li><li>protein stabilization</li>	<li>GO:0016310</li><li>GO:0000746</li><li>GO:0050821</li>	<li>binding</li><li>DNA binding</li>	<li>GO:0005488</li><li>GO:0003677</li>			<li>Q2EF74</li><li>P59082</li><li>Q5R6J4</li><li>Q9H2X6</li><li>P21675</li><li>Q99142</li><li>P55857</li><li>Q92793</li><li>Q9NZC7</li><li>P63165</li><li>P38724</li><li>Q93009</li><li>P46677</li><li>Q5F389</li><li>Q5E9D1</li><li>Q5R9W5</li><li>Q9NRG4</li><li>Q9VLU5</li><li>Q9MZD5</li>	Li-Fraumeni syndrome (LFS) [MIM:151623]	<li>rs17849781</li><li>rs35163653</li><li>rs1800371</li><li>rs28934271</li><li>rs28934572</li><li>rs28934571</li><li>rs56184981</li><li>rs28934574</li><li>rs28934573</li><li>rs55819519</li><li>rs1042522</li><li>rs17882252</li><li>rs55832599</li><li>rs28934577</li><li>rs28934873</li><li>rs28934578</li><li>rs28934875</li><li>rs28934575</li><li>rs28934576</li><li>rs28934874</li><li>rs17881470</li><li>rs35993958</li><li>rs11540654</li><li>rs11540652</li>	4
P04746	279	<ul><li>R->A,Q at 210: Abolishes chloride binding; strongly reduces activity</li><li>D->A,N at 212: Abolishes activity</li><li>E->A,Q at 248: Reduces activity</li><li>N->S at 313: Reduces affinity for chloride; reduces activity</li><li>D->A,N at 315: Strongly reduces activity</li><li>R->A at 352: Abolishes chloride binding; has only slight effect on activity</li></ul>				binding	GO:0005488						1
P04908	3012	<ul><li>S->A at 2: Blocks the inhibition of transcription by RPS6KA5/MSK1</li></ul>		transcription	GO:0006350					<li>P32048</li><li>Q5F3L1</li><li>Q5R4K3</li><li>O75582</li>			1
P05067	351	<ul><li>KRGR->NQGG at 99-102: Reduced heparin-binding</li><li>H->N at 137: Binds copper. Forms dimer</li><li>M->T at 141: Binds copper. Forms dimer</li><li>C->S at 144: Binds copper. No dimer formation. No copper reducing activity</li><li>HLH->ALA at 147-149: 50% decrease in copper reducing activity</li><li>H->A at 147: Some decrease in copper reducing activity</li><li>H->N at 147: Binds copper. Forms dimer</li><li>H->Y at 147: Greatly reduced copper-mediated low-density lipoprotein oxidation</li><li>H->K at 151: Greatly reduced copper-mediated low-density lipoprotein oxidation</li><li>H->N at 151: Binds copper. Forms dimer</li><li>S->A at 198: Greatly reduced casein kinase phosphorylation</li><li>S->A at 206: Reduced casein kinase phosphorylation</li><li>R->A at 499: Reduced affinity for heparin; when associated with A-503</li><li>K->A at 503: Reduced affinity for heparin; when associated with A-499</li><li>S->A at 656: Abolishes chondroitin sulfate binding in L-APP733 isoform</li><li>R->G at 676: 60-70% zinc-induced beta-APP (28) peptide aggregation</li><li>Y->F at 681: 60-70% zinc-induced beta-APP (28) peptide aggregation</li><li>H->R at 684: Only 23% zinc-induced beta-APP (28) peptide aggregation</li><li>G->V at 704: Reduced protein oxidation. No hippocampal neuron toxicity</li><li>M->L at 706: Reduced lipid peroxidation inhibition</li><li>M->V at 706: No free radical production. No hippocampal neuron toxicity</li><li>V->C,S at 717: Unchanged beta-APP42/total APP-beta ratio</li><li>V->F,G,I at 717: Increased beta-APP42/beta-APP40 ratio</li><li>V->K at 717: Decreased beta-APP42/total APP-beta ratio</li><li>V->M at 717: Increased beta-APP42/beta-APP40 ratio. No change in apoptosis after caspase cleavage</li><li>Y->A at 728: No effect on APBA1 nor APBB1 binding. Greatly reduces the binding to APPBP2. APP internalization unchanged. No change in beta-APP42 secretion</li><li>D->A at 739: No cleavage by caspases during apoptosis</li><li>D->N at 739: No effect on FADD-induced apoptosis</li><li>T->A at 743: Greatly reduces the binding to SHC1 and APBB family members; no effect on NGF-stimulated neurite extension</li><li>T->E at 743: Reduced NGF-stimulated neurite extension. No effect on APP maturation</li><li>G->A at 756: APP internalization unchanged. No change in beta-APP42 secretion</li><li>Y->A at 757: Little APP internalization. Reduced beta-APP42 secretion</li><li>Y->G at 757: Loss of binding to MAPK8IP1, APBA1, APBB1, APPBP2 and SHC1</li><li>N->A at 759: No binding to APBA1, no effect on APBB1 binding. Little APP internalization. Reduced beta-APP42 secretion</li><li>P->A at 760: Little APP internalization. Reduced beta-APP42 secretion</li><li>Y->A at 762: Loss of binding to APBA1 and APBB1. APP internalization unchanged. No change in beta-APP42 secretion</li></ul>	<li>E->K at 501: in dbSNP rsrs45588932</li><li>E->D at 665: in a patient with late onset Alzheimer disease</li><li>KM->NL at 670-671: in AD1</li><li>D->N at 678: in AD1, MIM: 104300</li><li>A->G at 692: in AD1; Flemish mutation; increases the solubility of processed beta-amyloid peptides and increases the stability of peptide oligomers, MIM: 104300</li><li>E->G at 693: in AD1, MIM: 104300</li><li>E->K at 693: in AMYLCAIT, MIM: 609065</li><li>E->Q at 693: in AMYLCAD, MIM: 609065</li><li>D->N at 694: in AMYLCAIW, MIM: 605714</li><li>L->V at 705: in AMYLCAIT, MIM: 609065</li><li>A->T at 713: in AD1, MIM: 104300</li><li>A->V at 713: in one chronic schizophrenia patient; could be a polymorphism; dbSNP:rs1800557, MIM: 104300</li><li>T->A at 714: in AD1, MIM: 104300</li><li>T->I at 714: in AD1; increased beta-APP42/beta-APP40 ratio, MIM: 104300</li><li>V->M at 715: in AD1; decreased beta-APP40/total APP-beta, MIM: 104300</li><li>I->V at 716: in AD1, MIM: 104300</li><li>V->F at 717: in AD1, MIM: 104300</li><ul><li>V->C,S at 717: Unchanged beta-APP42/total APP-beta ratio</li><li>V->F,G,I at 717: Increased beta-APP42/beta-APP40 ratio</li><li>V->K at 717: Decreased beta-APP42/total APP-beta ratio</li><li>V->M at 717: Increased beta-APP42/beta-APP40 ratio. No change in apoptosis after caspase cleavage</li></ul><li>V->G at 717: in AD1, MIM: 104300</li><ul><li>V->C,S at 717: Unchanged beta-APP42/total APP-beta ratio</li><li>V->F,G,I at 717: Increased beta-APP42/beta-APP40 ratio</li><li>V->K at 717: Decreased beta-APP42/total APP-beta ratio</li><li>V->M at 717: Increased beta-APP42/beta-APP40 ratio. No change in apoptosis after caspase cleavage</li></ul><li>V->I at 717: in AD1, MIM: 104300</li><ul><li>V->C,S at 717: Unchanged beta-APP42/total APP-beta ratio</li><li>V->F,G,I at 717: Increased beta-APP42/beta-APP40 ratio</li><li>V->K at 717: Decreased beta-APP42/total APP-beta ratio</li><li>V->M at 717: Increased beta-APP42/beta-APP40 ratio. No change in apoptosis after caspase cleavage</li></ul><li>V->L at 717: in AD1, MIM: 104300</li><ul><li>V->C,S at 717: Unchanged beta-APP42/total APP-beta ratio</li><li>V->F,G,I at 717: Increased beta-APP42/beta-APP40 ratio</li><li>V->K at 717: Decreased beta-APP42/total APP-beta ratio</li><li>V->M at 717: Increased beta-APP42/beta-APP40 ratio. No change in apoptosis after caspase cleavage</li></ul><li>L->P at 723: in AD1, MIM: 104300</li></ul>	<li>phosphorylation</li><li>lipoprotein oxidation</li><li>apoptosis</li><li>secretion</li>	<li>GO:0016310</li><li>GO:0042161</li><li>GO:0006915</li><li>GO:0046903</li>	<li>binding</li><li>heparin-binding</li>	<li>GO:0005488</li><li>GO:0008201</li>			<li>Q60495</li><li>P0A3Z4</li><li>Q28280</li><li>O73683</li><li>P0A3Z2</li><li>P0A3Z3</li><li>P21617</li><li>P0A3Z1</li><li>Q28757</li><li>P29216</li><li>Q02410</li><li>Q92624</li><li>Q13158</li><li>P12023</li><li>Q11207</li><li>P53601</li><li>Q29149</li><li>P29353</li><li>P75313</li><li>P79307</li><li>P08592</li><li>O00213</li><li>Q90W38</li><li>P05067</li><li>P46310</li><li>Q28748</li><li>Q6YBR5</li><li>Q28053</li><li>Q5IS80</li><li>P47566</li><li>O93279</li><li>Q95241</li><li>Q9UQF2</li><li>P34129</li>	<li>Amyloidosis cerebroarterial Italian type (AMYLCAIT) [MIM:609065]</li><li>Alzheimer disease type 1 (AD1) [MIM:104300]</li><li>Amyloidosis cerebroarterial Dutch type (AMYLCAD) [MIM:609065]</li><li>Amyloidosis cerebroarterial Iowa type (AMYLCAIW) [MIM:605714]</li>	<li>rs45588932</li><li>rs1800557</li>	4
P05111	3623	<ul><li>RR->AA at 56-57: Loss of cleavage; when associated with 60-AA-61</li><li>RR->AA at 60-61: Loss of cleavage; when associated with 55-AA-56</li><li>RR->EA at 231-232: Loss of cleavage</li><li>N->Q at 268: Loss of glycosylation</li><li>N->Q at 302: Loss of glycosylation</li></ul>	<li>G->R at 227: in dbSNP:rs12720061</li><li>A->T at 257: either a rare polymorphism or may play a role in premature ovarian failure; dbSNP:rs12720062</li>									<li>rs12720062</li><li>rs12720061</li>	3
P05231	3569	<ul><li>A->V at 173: Almost no loss of activity</li><li>W->R at 185: No loss of activity</li><li>S->P at 204: 87% loss of activity</li><li>R->K,E,Q,T,A,P at 210: Loss of activity</li><li>M->T,N,S,R at 212: Loss of activity</li></ul>	<li>P->S at 32: in dbSNP:rs2069830</li><li>D->E at 162: in dbSNP:rs13306435</li><li>D->V at 162: in dbSNP:rs2069860</li>									<li>rs2069860</li><li>rs13306435</li><li>rs2069830</li>	3
P05546	3053	<ul><li>R->L at 122: Normal thrombin inhibition and glycosaminoglycan affinity</li><li>R->Q at 122: Greatly reduced thrombin inhibition. Normal glycosaminoglycan affinity</li><li>R->W at 122: Greatly reduced thrombin inhibition. Normal glycosaminoglycan affinity</li><li>K->M at 204: Reduced heparin- and no dermatan sulfate-activated inhibition</li><li>K->N at 204: Reduced heparin- and no dermatan sulfate-activated inhibition</li><li>K->T at 204: Reduced heparin- and no dermatan sulfate-activated inhibition</li></ul>	<li>A->T at 7: in dbSNP:rs5905</li><li>H->P at 60: in dbSNP:rs165867</li><li>S->N at 87: in dbSNP:rs34324685</li><li>L->V at 129: in dbSNP:rs11542069</li><li>R->H at 208: in HCF2D; Oslo; decreased affinity for dermatan sulfate; dbSNP:rs5907, MIM: 142360</li><li>K->R at 237: in dbSNP:rs1042435, MIM: 142360</li><li>T->M at 442: in dbSNP:rs5904, MIM: 142360</li><li>E->K at 447: in HCF2D, MIM: 142360</li><li>P->L at 462: in HCF2D; Tokushima; impaired secretion of the mutant molecules, MIM: 142360</li>	secretion	GO:0046903					P84122	Heparin cofactor 2 deficiency (HCF2D) [MIM:142360]	<li>rs5907</li><li>rs34324685</li><li>rs5905</li><li>rs5904</li><li>rs1042435</li><li>rs11542069</li><li>rs165867</li>	3
P05549	7020	<ul><li>S->A at 239: No phosphorylation</li></ul>	<li>L->P at 249: in BOFS, MIM: 113620</li><li>R->G at 254: in BOFS, MIM: 113620</li><li>R->G at 255: in BOFS, MIM: 113620</li><li>G->E at 262: in BOFS, MIM: 113620</li>	phosphorylation	GO:0016310						Branchiooculofacial syndrome (BOFS) [MIM:113620]		3
P05556	3688	<ul><li>G->Q at 778: Loss of beta-1A interaction with FLNA and FLNB</li><li>A->P at 786: Loss of beta-1A interaction with FLNA and FLNB</li></ul>								<li>P21333</li><li>Q9MZD2</li><li>O75369</li>			1
P05783	3875	<ul><li>S->A at 2: No effect on phosphorylation; when associated with A-7 and A-10</li><li>S->A at 7: No effect on phosphorylation; when associated with A-2 and A-10</li><li>S->A at 10: No effect on phosphorylation; when associated with A-2 and A-7</li><li>S->A at 15: No effect on phosphorylation; when associated with A-18 and A-23. Abolishes phosphorylation; when associated with A-18; A-34; A-47; A-49; A-51 and A-53</li><li>S->A at 18: No effect on phosphorylation; when associated with A-15 and A-23. Abolishes phosphorylation; when associated with A-15; A-34; A-47; A-49; A-51 and A-53</li><li>S->A at 23: No effect on phosphorylation; when associated with A-15 and A-18</li><li>S->A at 30: No effect on phosphorylation; when associated with A-31 and A-34, or with A-31; A-44 and A-51. Abolishes glycosylation but does not affect binding to YWHAE and YWHAZ; when associated with A-31 and A-49</li><li>S->A at 31: No effect on phosphorylation; when associated with A-30 and A-34, or with A-30; A-44 and A-51. Abolishes glycosylation but does not affect binding to YWHAE and YWHAZ; when associated with A-30 and A-49</li><li>S->A at 34: No effect on phosphorylation; when associated with A-30 and A-31. Abolishes phosphorylation; when associated with A-15; A-18; A-47; A-49; A-51 and A-53. Abolishes binding to YWHAE and YWHAZ; and when associated with A-53</li><li>S->D,E at 34: Abolishes binding to YWHAE and YWHAZ</li><li>S->A at 42: No effect on phosphorylation; when associated with A-44</li><li>S->A at 44: No effect on phosphorylation; when associated with A-42, or with A-30; A-31 and A-51</li><li>S->A at 47: No effect on phosphorylation; when associated with A-49. Abolishes phosphorylation; when associated with A-49; A-51 and A-53, or with A-15; A-18; A-34; A-49; A-51 and A-53</li><li>S->A at 49: No effect on phosphorylation; when associated with A-47. Abolishes phosphorylation; when associated with A-47; A-51 and A-53, or with A-15; A-18; A-34; A-47; A-51 and A-53. Abolishes glycosylation but does not affect binding to YWHAE and YWHAZ; when associated with A-30 and A-31</li><li>S->A at 51: No effect on phosphorylation; when associated with A-30; A-31 and A-47. Abolishes phosphorylation; when associated with A-47; A-49 and A-53, or with A-15; A-18; A-34; A-47; A-49 and A-53</li><li>S->A at 53: Abolishes phosphorylation; when associated with A-47; A-49 and A-51, or with A-15; A-18; A-34; A-47; A-49 and A-51. Abolishes binding to YWHAE and YWHAZ; when associated with A-34. No effect on caspase cleavage during apoptosis</li><li>R->C,H at 90: In transgenic mice, induces marked disruption of liver and pancreas keratin filament network. Increases phosphorylation and glycosylation</li><li>D->E at 238: Prevents cleavage by caspase-6 during apoptosis. Induces aggregates of keratin filaments in an altered organization</li></ul>	<li>T->A at 103: in cryptogenic cirrhosis: in dbSNP rsrs61136606, MIM: 215600</li><li>H->L at 128: in cryptogenic cirrhosis; interfers with the ability to form normal filaments: in dbSNP rsrs57758506, MIM: 215600</li><li>S->T at 230, MIM: 215600</li><li>R->Q at 261: in cryptogenic cirrhosis, MIM: 215600</li><li>G->R at 340: in cryptogenic cirrhosis, MIM: 215600</li>	<li>phosphorylation</li><li>apoptosis</li>	<li>GO:0016310</li><li>GO:0006915</li>	binding	GO:0005488	keratin filament	GO:0045095	<li>P63103</li><li>P29361</li><li>Q5ZKC9</li><li>P62258</li><li>Q5R651</li><li>P62262</li><li>Q5ZMT0</li><li>P62261</li><li>P63104</li>	Cryptogenic cirrhosis [MIM:215600]	<li>rs61136606</li><li>rs57758506</li>	3
P05787	3856	<ul><li>L->P at 72: Increases phosphorylation</li><li>S->A at 74: Generates normal-appearing filaments, that remain stable after okadaic acid treatment</li><li>S->D at 74: Generates normal-appearing filaments, that are destabilized by okadaic acid</li></ul>	<li>G->V at 53: in cryptogenic cirrhosis: in dbSNP rsrs61710484, MIM: 215600</li><li>Y->C at 54: in cryptogenic cirrhosis, MIM: 215600</li><li>G->C at 62: in cryptogenic cirrhosis: in dbSNP rsrs11554495, MIM: 215600</li><li>I->V at 63: in dbSNP rsrs59536457, MIM: 215600</li><li>R->W at 401: in dbSNP:rs2277330, MIM: 215600</li>	phosphorylation	GO:0016310						Cryptogenic cirrhosis [MIM:215600]	<li>rs2277330</li><li>rs11554495</li><li>rs59536457</li><li>rs61710484</li>	3
P06132	7389	<ul><li>D->E at 86: 5-10% of wild-type activity</li><li>D->G at 86: Very low activity. Binds substrate with similar geometry as wild-type</li><li>D->N at 86: No activity. Unable to bind substrate</li><li>Y->F at 164: 25-30% of wild-type activity</li></ul>	<li>G->E at 25: in FPCT; insoluble protein, MIM: 176100</li><li>F->L at 46: in HEP; mild phenotype; strong decrease of activity, MIM: 176100</li><li>P->L at 62: in HEP, MIM: 176100</li><li>A->G at 80: in HEP, MIM: 176100</li><li>A->S at 80: in FPCT; decrease of activity, MIM: 176100</li><li>V->Q at 134: in FPCT and HEP; requires 2 nucleotide substitutions; nearly normal activity, MIM: 176100</li><li>R->Q at 142: in FPCT, MIM: 176100</li><li>R->P at 144: in FPCT; decrease of activity, MIM: 176100</li><li>G->D at 156: in FPCT; decrease of activity, MIM: 176100</li><li>L->Q at 161: in FPCT, MIM: 176100</li><li>M->R at 165: in FPCT; activity < 2%, MIM: 176100</li><li>E->K at 167: in HEP and FPCT; nearly normal activity, MIM: 176100</li><li>R->P at 193: in FPCT; insoluble protein, MIM: 176100</li><li>L->F at 195: in FPCT, MIM: 176100</li><li>L->Q at 216: in FPCT, MIM: 176100</li><li>E->K at 218: in FPCT; significant decrease of activity, MIM: 176100</li><li>S->F at 219: in FPCT, MIM: 176100</li><li>H->P at 220: in HEP; mild form, MIM: 176100</li><li>F->L at 229: in FPCT, MIM: 176100</li><li>F->L at 232: in FPCT; decrease of activity, MIM: 176100</li><li>P->S at 235: in FPCT, MIM: 176100</li><li>L->Q at 253: in FPCT; decrease of activity: in dbSNP rsrs36033115, MIM: 176100</li><li>I->T at 260: in FPCT; decrease of activity, MIM: 176100</li><li>G->E at 281: in FPTC and HEP, MIM: 176100</li><li>G->V at 281: in FPCT, MIM: 176100</li><li>L->R at 282: in FPCT, MIM: 176100</li><li>R->G at 292: in HEP, MIM: 176100</li><li>G->S at 303: in FPCT, MIM: 176100</li><li>N->K at 304: in FPCT, MIM: 176100</li><li>Y->C at 311: in HEP, MIM: 176100</li><li>G->R at 318: in FPCT, MIM: 176100</li><li>M->T at 324: in FPCT, MIM: 176100</li><li>R->H at 332: in FPCT, MIM: 176100</li><li>I->T at 334: in FPCT, MIM: 176100</li>							<li>Q9Y251</li><li>O15197</li>	<li>Hepatoerythropoietic porphyria (HEP) [MIM:176100]</li><li>Familial porphyria cutanea tarda (FPCT) [MIM:176100]</li>	rs36033115	3
P06213	3643	<ul><li>L->A at 991: Reduces interaction with IRS1 but has no effect on interaction with SHC1</li><li>Y->A at 992: Reduces interaction with IRS1 but has no effect on interaction with SHC1</li><li>NP->AA at 996-997: Abolishes interaction with IRS1. Severely disrupts, but does not abolish interaction with SHC1</li><li>N->A at 996: Abolishes interaction with IRS1 and significantly reduces interaction with SHC1. Has no effect on interaction with PIK3R1</li><li>P->A at 997: Abolishes interaction with IRS1 and significantly reduces interaction with SHC1. Has no effect on interaction with PIK3R1</li><li>E->A at 998: Does not affect interaction with IRS1, SHC1 or PIK3R1</li><li>Y->E at 999: Abolishes interaction with IRS1 and SHC1</li><li>Y->F at 999: Has no effect on insulin-stimulated autophosphorylation, but inhibits the biological activity of the receptor. Abolishes interaction with IRS1 and almost completely prevents interaction with SHC1. Has no effect on interaction with PIK3R1</li><li>L->A,R at 1000: Severely reduces interaction with SHC1. Has no effect on interaction with IRS1</li><li>A->D at 1002: Reduces interaction with IRS1 but has no effect on interaction with SHC1</li><li>K->A at 1057: Abolishes the kinase activity and abolishes interaction with IRS1, SHC1 and PIK3R1</li><li>K->M,R at 1057: Abolishes the kinase activity</li></ul>	<li>N->K at 42: in Rabson-Mendenhall syndrome; impairs transport to the plasma membrane and reduces the affinity to bind insulin, MIM: 262190</li><li>V->A at 55: in leprechaunism; Verona-1, MIM: 246200</li><li>G->R at 58: in leprechaunism; Helmond; inhibits processing and transport: in dbSNP rsrs52836744, MIM: 246200</li><li>D->G at 86: in Ins resistance; type A, MIM: 125853</li><li>L->P at 89: in Ins resistance; type A, MIM: 125853</li><li>R->P at 113: in leprechaunism; Atlanta-1; abolishes insulin binding, MIM: 246200</li><li>A->V at 119: in leprechaunism; markedly impairs insulin binding, MIM: 246200</li><li>L->Q at 120: in leprechaunism; inhibits receptor processing, MIM: 246200</li><li>I->M at 146: in leprechaunism; mild, MIM: 246200</li><li>V->L at 167: in Ins resistance; type A, MIM: 125853</li><li>P->L at 220: in Ins resistance; severe, MIM: 125853</li><li>C->R at 228: in a gastric adenocarcinoma sample; somatic mutation, MIM: 125853</li><li>H->R at 236: in leprechaunism; Winnipeg; in one patient with in Rabson-Mendenhall syndrome heterozygous compound with Ser-386; may impair receptor processing, MIM: 246200</li><li>L->P at 260: in leprechaunism; Geldeimalsen, MIM: 246200</li><li>R->C at 279: in Ins resistance; severe; inhibits receptor internalization, MIM: 125853</li><li>R->H at 279: in IRAN type A; interferes with receptor processing, MIM: 610549</li><li>C->Y at 280: in Ins resistance; type A, MIM: 125853</li><li>C->Y at 301: in leprechaunism, MIM: 246200</li><li>Missing  at 308: in leprechaunism; abolishes insulin binding, MIM: 246200</li><li>S->L at 350: in Rabson-Mendenhall syndrome and leprechaunism, MIM: 262190</li><li>Missing  at 362: in leprechaunism, MIM: 262190</li><li>G->S at 386: in Rabson-Mendenhall syndrome; may impair receptor processing, MIM: 262190</li><li>G->R at 393: in leprechaunism; Verona-1, MIM: 246200</li><li>F->V at 409: in Ins resistance; severe, MIM: 125853</li><li>W->S at 439: in leprechaunism; impairs transport of the receptor to the cell surface, MIM: 246200</li><li>T->I at 448: in dbSNP:rs1051691, MIM: 246200</li><li>N->D at 458: in leprechaunism; partially inhibits receptor processing and autophosphorylation; strongly impairs ERK phosphorylation; induces wild-type levels of IRS-1 phosphorylation, MIM: 246200</li><li>K->E at 487: in leprechaunism; ARK-1: in dbSNP rsrs28933083, MIM: 246200</li><li>N->S at 489: in IRAN type A: in dbSNP rsrs28933085, MIM: 610549</li><li>K->Q at 492: in dbSNP rsrs1131851, MIM: 610549</li><li>Q->R at 695: in dbSNP rsrs55906835, MIM: 610549</li><li>R->S at 762: in IRAN type A, MIM: 610549</li><li>G->S at 811: in dbSNP rsrs35045353, MIM: 610549</li><li>T->A at 858: in NIDDM, MIM: 125853</li><li>I->T at 925: in leprechaunism; abolishes insulin binding, MIM: 246200</li><li>R->W at 926: in leprechaunism; markedly impairs insulin binding, MIM: 246200</li><li>T->M at 937: in leprechaunism; impaired receptor processing, MIM: 246200</li><li>P->T at 997: in Rabson-Mendenhall syndrome; reduces insulin binding, MIM: 262190</li><ul><li>P->A at 997: Abolishes interaction with IRS1 and significantly reduces interaction with SHC1. Has no effect on interaction with PIK3R1</li></ul><li>V->M at 1012: rare polymorphism; dbSNP:rs1799816, MIM: 262190</li></ul><li>R->Q at 1020: in IRAN type A, MIM: 610549</li></ul><li>I->F at 1023, MIM: 610549</li></ul><li>G->V at 1035: in IRAN type A, MIM: 610549</li></ul><li>A->V at 1055: in Ins resistance; type A, MIM: 125853</li></ul><li>L->V at 1065: in dbSNP rsrs56395521, MIM: 125853</li></ul><li>A->D at 1075: in Ins resistance; type A, MIM: 125853</li></ul><li>K->E at 1095: in a NIDDM subject, MIM: 125853</li></ul><li>R->W at 1119: in leprechaunism, MIM: 246200</li></ul><li>I->T at 1143: in Rabson-Mendenhall syndrome; reduces insulin binding, MIM: 262190</li></ul><li>R->Q at 1158: in Ins resistance, MIM: 125853</li></ul><li>R->W at 1158: in Rabson-Mendenhall syndrome; abolishes insulin binding, MIM: 262190</li></ul><li>A->T at 1161: in IRAN type A: in dbSNP rsrs28933084, MIM: 610549</li></ul><li>A->E at 1162: in IRAN type A; impairs proteolytic processing, MIM: 610549</li></ul><li>M->I at 1180: in Ins resistance, MIM: 125853</li></ul><li>R->Q at 1191: in NIDDM, MIM: 125853</li></ul><li>R->Q at 1201: in HHF5 and IRAN type A; interferes with kinase activation by insulin: in dbSNP rsrs28933086, MIM: 610549</li></ul><li>R->W at 1201: in leprechaunism and Rabson-Mendenhall syndrome; reduces insulin binding possibly due to reduced receptor levels on the cell surface, MIM: 262190</li></ul><li>P->L at 1205: in Ins resistance; type A; moderate, MIM: 125853</li></ul><li>E->D at 1206: in Ins resistance; type A; accelerates degradation of the protein and impairs kinase activity, MIM: 125853</li></ul><li>E->K at 1206: in leprechaunism, MIM: 246200</li></ul><li>W->L at 1220: in Ins resistance; type A; accelerates degradation of the protein and impairs kinase activity: in dbSNP rsrs52800171, MIM: 125853</li></ul><li>W->S at 1227: in IRAN type A, MIM: 610549</li></ul><li>T->A at 1282: in dbSNP rsrs55875349, MIM: 610549</li></ul><li>Y->C at 1361: in dbSNP:rs13306449, MIM: 610549</li></ul><li>R->Q at 1378: in Ins resistance; type A: in dbSNP rsrs52826008, MIM: 125853</li></ul>	<li>phosphorylation</li><li>autophosphorylation</li><li>transport</li>	<li>GO:0016310</li><li>GO:0046777</li><li>GO:0006810</li>	<li>kinase activity</li><li>binding</li>	<li>GO:0016301</li><li>GO:0005488</li>	<li>plasma membrane</li><li>cell surface</li>	<li>GO:0005886</li><li>GO:0009928,GO:0009986</li>	<li>P23727</li><li>P0C236</li><li>P07453</li><li>P35568</li><li>P42633</li><li>P35569</li><li>P27986</li><li>P68243</li><li>P35570</li><li>P68992</li><li>P81423</li><li>P29353</li><li>P68245</li><li>P69046</li><li>P01316</li><li>P01314</li><li>P01319</li><li>P29335</li><li>P12703</li><li>P18109</li><li>P12704</li><li>P12708</li><li>P67974</li><li>P67973</li><li>P02855</li><li>P67971</li><li>Q28224</li><li>P01330</li><li>P69048</li><li>P69047</li><li>P18168</li><li>P01324</li><li>P01320</li><li>Q6P4Y6</li><li>P01328</li><li>P29323</li><li>P09715</li><li>Q9TQY7</li><li>P01340</li><li>P67969</li><li>P68990</li><li>P67968</li><li>P68991</li><li>P01336</li><li>P81881</li><li>P68988</li><li>P13190</li><li>P01334</li><li>P68987</li><li>P01331</li><li>P09477</li><li>P09476</li><li>P68989</li>	<li>Familial hyperinsulinemic hypoglycemia 5 (HHF5) [MIM:609968]</li><li>Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]</li><li>Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]</li><li>Leprechaunism [MIM:246200]</li><li>Insulin resistance (Ins resistance) [MIM:125853]</li><li>Rabson-Mendenhall syndrome [MIM:262190]</li>	<li>rs1131851</li><li>rs55906835</li><li>rs56395521</li><li>rs52826008</li><li>rs13306449</li><li>rs52836744</li><li>rs55875349</li><li>rs28933085</li><li>rs28933084</li><li>rs28933083</li><li>rs1799816</li><li>rs52800171</li><li>rs35045353</li><li>rs1051691</li><li>rs28933086</li>	4
P06239	3932	<ul><li>S->E at 59: Allows interaction with SQSTM1</li><li>R->K at 154: No effect on interaction with SQSTM1</li></ul>	<li>V->L at 28: in leukemia</li><li>G->S at 201: in dbSNP:rs11567841</li><li>P->PQKP at 232: in leukemia</li><li>A->V at 353: in leukemia</li><li>P->L at 447: in leukemia</li>							<li>Q5RBA5</li><li>Q13501</li>		rs11567841	3
P06307	885	<ul><li>Y->F at 97: Reduces the quantity of secreted CCK8 by 50%</li></ul>	<li>G->E at 32: in dbSNP:rs11571848</li><li>R->W at 95: in dbSNP:rs3774395</li>							<li>P23362</li><li>P80345</li><li>P09240</li><li>Q9PU29</li><li>P06307</li><li>P80344</li><li>O93464</li><li>P41520</li><li>O57312</li><li>P01356</li><li>P01355</li><li>Q9PU41</li>		<li>rs3774395</li><li>rs11571848</li>	3
P06729	914	<ul><li>K->R at 67: Loss of LFA-3 binding</li><li>Q->K at 70: Loss of LFA-3 binding</li><li>Y->D at 110: Loss of LFA-3 and CD59 binding</li><li>D->H at 111: Loss of LFA-3 and CD59 binding</li></ul>	<li>C->Y at 217: in a breast cancer sample; somatic mutation</li><li>H->Q at 266: in dbSNP:rs699738</li><li>H->N at 339: in dbSNP:rs35880225</li>			binding	GO:0005488			<li>O77541</li><li>P13987</li><li>Q5R510</li><li>P47777</li><li>O62680</li><li>Q28216</li><li>Q28785</li><li>P46657</li><li>Q8SQ46</li><li>P51447</li><li>P58020</li>		<li>rs699738</li><li>rs35880225</li>	3
P06730	1977	<ul><li>S->A,D at 53: No effect on phosphorylation level nor incorporation into eIF4F complex</li><li>W->L at 102: Decrease in binding; when associated with A-105</li><li>E->A at 103: No effect</li><li>D->A at 104: No effect</li><li>E->A at 105: Decrease in binding; when associated with A-105</li></ul>		phosphorylation	GO:0016310	binding	GO:0005488						1
P06731	1048	<ul><li>F->I at 63: No effect on dimerization. Reduced affinity for E.coli Dr adhesins</li><li>F->R at 63: Abolishes dimerization. Reduced affinity for E.coli Dr adhesins</li><li>S->N at 66: Abolishes dimerization</li><li>Y->A at 68: Abolishes dimerization</li><li>Y->F at 68: No effect on dimerization</li><li>K->A at 69: Abolishes dimerization</li><li>V->A at 73: Abolishes dimerization</li><li>D->A at 74: No effect on dimerization</li><li>D->L,R at 74: Abolishes dimerization</li><li>Q->L,R at 78: Abolishes dimerization. Reduced affinity for E.coli Dr adhesins</li><li>I->A at 125: Abolishes dimerization. Reduced affinity for E.coli Dr adhesins</li><li>L->A,C at 129: No effect on dimerization. Reduced affinity for E.coli Dr adhesins</li><li>L->S at 129: Abolishes dimerization. Reduced affinity for E.coli Dr adhesins</li><li>E->A at 133: Abolishes dimerization</li></ul>	<li>A->D at 340: in dbSNP:rs10407503</li><li>E->K at 398: in dbSNP:rs7249230</li><li>R->S at 664: in dbSNP:rs10423171</li>							<li>P31522</li><li>Q9CB42</li><li>Q56982</li><li>P0A5P7</li><li>P42188</li><li>P0A5P6</li>		<li>rs10407503</li><li>rs10423171</li><li>rs7249230</li>	3
P06733	2023	<ul><li>M->I at 94: MBP1 protein production. No MBP1 protein production; when associated with I-97</li><li>M->I at 97: MBP1 protein production. No MBP1 protein production; when associated with I-94</li><li>L->A at 384: Loss of transcriptional repression and cell growth inhibition; when associated with A-388</li><li>L->A at 388: Loss of transcriptional repression and cell growth inhibition; when associated with A-384</li></ul>	<li>N->K at 177: in dbSNP rsrs11544513</li><li>P->Q at 325: in dbSNP:rs11544514</li>							<li>Q66S41</li><li>Q66S50</li><li>Q66S60</li><li>Q66S61</li><li>Q66S62</li><li>Q66S63</li><li>Q66S54</li><li>Q66S65</li><li>Q66S64</li><li>Q66S37</li><li>P11226</li><li>Q66S45</li><li>Q66S58</li><li>P39678</li><li>P55034</li><li>P39679</li><li>P22032</li>		<li>rs11544513</li><li>rs11544514</li>	3
P06746	5423	<ul><li>K->Q,R at 35: Reduces DNA lyase activity slightly</li><li>Y->Q at 39: Abolishes DNA polymerase and DNA lyase activity</li><li>K->Q,R at 68: Reduces DNA lyase activity slightly</li><li>K->Q,R at 72: Abolishes DNA lyase activity. No effect on DNA polymerase activity</li><li>K->R at 84: No effect</li></ul>	<li>P->R at 242: in dbSNP:rs3136797</li>			lyase activity	GO:0016829			<li>Q9YUS3</li><li>O59610</li><li>Q9YUS2</li><li>P56689</li><li>P06538</li><li>Q69025</li><li>Q9HH84</li><li>P04495</li><li>P43139</li><li>Q56366</li><li>P77933</li><li>P03261</li><li>P19894</li><li>P52025</li><li>P03158</li><li>Q6S6P1</li><li>P09252</li><li>Q85428</li><li>O64235</li><li>P03198</li><li>P28859</li><li>P52367</li><li>O72539</li><li>P52342</li><li>P74918</li><li>P20311</li><li>O70736</li><li>P28857</li><li>P28858</li><li>P20509</li><li>Q9HH05</li><li>Q88469</li><li>P61875</li><li>P61876</li><li>O72540</li><li>Q05254</li><li>Q64751</li><li>P06950</li><li>P06856</li><li>P05664</li><li>Q83948</li><li>P05468</li><li>P08546</li><li>O71121</li><li>Q37882</li><li>P19822</li><li>P10479</li><li>Q58295</li><li>P30321</li><li>P87553</li><li>P30320</li><li>P10582</li><li>P21402</li><li>O33845</li><li>Q51334</li><li>P42489</li><li>P18131</li><li>O27276</li><li>P24907</li><li>P09804</li><li>P41712</li><li>Q84173</li><li>P33793</li><li>P48311</li><li>O57191</li><li>P00581</li><li>P03680</li><li>P04415</li><li>Q5UQR0</li><li>Q90162</li><li>P87503</li><li>Q37989</li><li>P04292</li><li>P30318</li><li>P30317</li><li>P04293</li><li>P07917</li><li>Q38087</li><li>Q65946</li><li>P30319</li><li>P07918</li><li>O29753</li><li>P30314</li><li>P27172</li><li>P06225</li><li>P09854</li>		rs3136797	3
P07225	5627	<ul><li>R->A,E at 515: Markedly reduced secretion of the mutant</li><li>R->K at 515: No change in secretion of the mutant</li></ul>	<li>L->H at 15: in PROS1D, MIM: 612336</li><li>V->E at 18: in PROS1D; expresses very low/undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found, MIM: 612336</li><li>R->L at 40: in PROS1D; dbSNP:rs7614835, MIM: 612336</li><li>R->H at 41: in PROS1D, MIM: 612336</li><li>K->E at 50: in PROS1D, MIM: 612336</li><li>G->D at 52: in PROS1D; does not affect PROS1 production but results in 15.2-fold reduced PROS1 activity; has 5.4 fold reduced affinity for anionic phospholipid vesicles , MIM: 612336</li><li>E->A at 67: in PROS1D, MIM: 612336</li><li>A->D at 68: in PROS1D, MIM: 612336</li><li>F->C at 72: in PROS1D, MIM: 612336</li><li>P->L at 76, MIM: 612336</li><li>T->M at 78: in PROS1D; reduces expression of PROS1 by 33.2% : in dbSNP rsrs6122, MIM: 612336</li><li>V->L at 87: in PROS1D, MIM: 612336</li><li>C->Y at 88: in PROS1D, MIM: 612336</li><li>R->C at 90: in PROS1D; produces around 50% of PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found, MIM: 612336</li><li>R->H at 90: in PROS1D, MIM: 612336</li><li>G->E at 95: in PROS1D, MIM: 612336</li><li>G->R at 95: in PROS1D; the activated protein cofactor activity is inhibited by C4BPB with a dose dependency similar to that of wild-type PROS1, MIM: 612336</li><li>T->S at 98, MIM: 612336</li><li>R->C at 101: in PROS1D, MIM: 612336</li><li>R->S at 111: in PROS1D, MIM: 612336</li><li>C->Y at 121: in PROS1D, MIM: 612336</li><li>D->G at 129: in PROS1D, MIM: 612336</li><li>T->N at 144: in PROS1D, MIM: 612336</li><li>W->C at 149: in PROS1D, MIM: 612336</li><li>D->G at 157: in PROS1D, MIM: 612336</li><li>C->G at 161: in PROS1D, MIM: 612336</li><li>N->Y at 166: in PROS1D, MIM: 612336</li><li>N->S at 168, MIM: 612336</li><li>C->F at 175: in PROS1D, MIM: 612336</li><li>C->Y at 186: in PROS1D, MIM: 612336</li><li>K->E at 196: in PROS1D; Tokushima; the specific activity decreases to 58% of that of the wild-type PROS1; the activated protein cofactor activity is inhibited by C4BPB with a dose dependency similar to that of wild-type PROS1, MIM: 612336</li><li>E->G at 204: in PROS1D, MIM: 612336</li><li>R->K at 233: in PROS1D; expresses lower : in dbSNP rsrs41267007, MIM: 612336</li><li>C->S at 241: in PROS1D, MIM: 612336</li><li>D->N at 243: in PROS1D, MIM: 612336</li><li>D->G at 245: in PROS1D, MIM: 612336</li><li>C->G at 247: in PROS1D, MIM: 612336</li><li>E->K at 249: in PROS1D, MIM: 612336</li><li>N->S at 258: in PROS1D; produces around 30% of PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found, MIM: 612336</li><li>C->R at 265: in PROS1D, MIM: 612336</li><li>C->W at 265: in PROS1D, MIM: 612336</li><li>Y->C at 266: in PROS1D, MIM: 612336</li><li>C->S at 267: in PROS1D, MIM: 612336</li><li>L->P at 300: in PROS1D, MIM: 612336</li><li>S->P at 324: in PROS1D, MIM: 612336</li><li>G->D at 336: in PROS1D, MIM: 612336</li><li>G->S at 336: in PROS1D, MIM: 612336</li><li>G->V at 336: in PROS1D; expresses very low/undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found, MIM: 612336</li><li>L->P at 339: in PROS1D, MIM: 612336</li><li>L->P at 351: in PROS1D, MIM: 612336</li><li>R->H at 355: in PROS1D, MIM: 612336</li><li>G->R at 357: in PROS1D, MIM: 612336</li><li>K->E at 364: in PROS1D, MIM: 612336</li><li>D->N at 376: in PROS1D, MIM: 612336</li><li>G->D at 381: in PROS1D, MIM: 612336</li><li>G->V at 381: in PROS1D, MIM: 612336</li><li>W->R at 383: in PROS1D, MIM: 612336</li><li>M->V at 385, MIM: 612336</li><li>E->K at 390: in PROS1D, MIM: 612336</li><li>L->P at 446: in PROS1D, MIM: 612336</li><li>C->S at 449: in PROS1D, MIM: 612336</li><li>C->R at 475: in PROS1D, MIM: 612336</li><li>G->C at 482: in PROS1D, MIM: 612336</li><li>Y->C at 485: in PROS1D, MIM: 612336</li><li>I->V at 495: in dbSNP:rs5017712, MIM: 612336</li><li>S->A at 501: in PROS1D, MIM: 612336</li><li>S->P at 501: variant Heerlen; could be associated with PROS1D, MIM: 612336</li><li>V->G at 508: in PROS1D, MIM: 612336</li><li>V->M at 508: in PROS1D, MIM: 612336</li><li>R->C at 515: in PROS1D; secretion of the mutant markedly decreased compared with that of the wild-type; intracellular degradation and impaired secretion of the mutant, MIM: 612336</li><ul><li>R->A,E at 515: Markedly reduced secretion of the mutant</li><li>R->K at 515: No change in secretion of the mutant</li></ul><li>R->P at 515: in PROS1D, MIM: 612336</li><ul><li>R->A,E at 515: Markedly reduced secretion of the mutant</li><li>R->K at 515: No change in secretion of the mutant</li></ul><li>G->D at 521: in PROS1D, MIM: 612336</li></ul><li>A->P at 525: in PROS1D, MIM: 612336</li></ul><li>L->S at 526: in PROS1D, MIM: 612336</li></ul><li>T->A at 532: in PROS1D, MIM: 612336</li></ul><li>E->G at 545: in a colorectal cancer sample; somatic mutation, MIM: 612336</li></ul><li>L->S at 552: in PROS1D, MIM: 612336</li></ul><li>I->M at 559, MIM: 612336</li></ul><li>R->G at 561: in PROS1D, MIM: 612336</li></ul><li>I->L at 562: in PROS1D; could be a polymorphism, MIM: 612336</li></ul><li>C->Y at 568: in PROS1D, MIM: 612336</li></ul><li>L->R at 575: in PROS1D, MIM: 612336</li></ul><li>N->H at 583, MIM: 612336</li></ul><li>L->Q at 584: in PROS1D, MIM: 612336</li></ul><li>M->K at 611: in PROS1D, MIM: 612336</li></ul><li>M->T at 611: in PROS1D, MIM: 612336</li></ul><li>A->P at 616: in PROS1D, MIM: 612336</li></ul><li>L->R at 622: in PROS1D, MIM: 612336</li></ul><li>T->I at 630: in PROS1D; the activated protein cofactor activity is inhibited by C4BPB with a dose dependency similar to that of wild-type PROS1, MIM: 612336</li></ul><li>Y->C at 636: in PROS1D; shows intracellular degradation and decreased secretion, MIM: 612336</li></ul><li>G->D at 638: in PROS1D, MIM: 612336</li></ul><li>C->F at 639: in PROS1D, MIM: 612336</li></ul><li>C->Y at 639: in PROS1D, MIM: 612336</li></ul><li>M->T at 640: in PROS1D, MIM: 612336</li></ul><li>I->S at 644: in PROS1D, MIM: 612336</li></ul><li>H->P at 664: in PROS1D; expresses very low/undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found, MIM: 612336</li></ul><li>S->L at 665: in PROS1D, MIM: 612336</li></ul><li>C->R at 666: in PROS1D, MIM: 612336</li></ul><li>P->L at 667: in PROS1D, MIM: 612336</li></ul>	secretion	GO:0046903			intracellular	GO:0005622	<li>P98118</li><li>Q28066</li><li>Q28520</li><li>P20851</li><li>P07224</li><li>P07225</li>	Protein S deficiency (PROS1D) [MIM:612336]	<li>rs5017712</li><li>rs41267007</li><li>rs7614835</li><li>rs6122</li>	4
P07320	1421	<ul><li>PN->TK at 24-25: Wild-type solubility</li><li>P->S at 24: Lowered solubility, but more soluble than T-23</li><li>P->TP at 24: Wild-type solubility</li><li>P->V at 24: Slightly lowered solubility</li></ul>	<li>R->C at 15: in progressive punctate cataract; forms disulfide-linked oligomers, MIM: 123690</li><li>P->S at 24: in PCC; dbSNP:rs28931605, MIM: 601286</li><ul><li>P->S at 24: Lowered solubility, but more soluble than T-23</li><li>P->TP at 24: Wild-type solubility</li><li>P->V at 24: Slightly lowered solubility</li></ul><li>P->T at 24: in CCA3 and lamellar cataract; lowered solubility, MIM: 608983</li><ul><li>P->S at 24: Lowered solubility, but more soluble than T-23</li><li>P->TP at 24: Wild-type solubility</li><li>P->V at 24: Slightly lowered solubility</li></ul><li>R->S at 37: in cataract; very low solubility; crystallizes spontaneously, MIM: 608983</li></ul><li>R->H at 59: in CACA; lowered solubility; crystallizes easily, MIM: 115700</li></ul><li>M->V at 102, MIM: 115700</li></ul><li>E->A at 107: in PCC, MIM: 601286</li></ul>							O08764	<li>Progressive punctate cataract [MIM:123690]</li><li>Congenital cerulean cataract 3 (CCA3) [MIM:608983]</li><li>Crystalline aculeiform cataract (CACA) [MIM:115700]</li><li>Autosomal dominant non-nuclear polymorphic congenital cataract (PCC) [MIM:601286]</li>		4
P07355	302	<ul><li>Y->A at 24: Abolishes heat stress-induced cell surface localization</li></ul>	<li>V->L at 98: in dbSNP rsrs17845226</li>	localization	GO:0051179			cell surface	GO:0009928,GO:0009986			rs17845226	3
P07359	2811	<ul><li>G->A at 249: No change</li><li>G->K,D at 249: Decreased binding to vWF</li><li>G->S,V at 249: Increased binding to vWF</li></ul>	<li>R->H at 72: in dbSNP:rs6068</li><li>L->F at 73: in BSS, MIM: 231200</li><li>C->R at 81: in BSS, MIM: 231200</li><li>L->F at 86: in dbSNP:rs13306411, MIM: 231200</li><li>L->P at 145: in BSS, MIM: 231200</li><li>T->M at 161: in Siba: in dbSNP rsrs6065, MIM: 231200</li><li>A->V at 172: in BSS and benign mediterranean macrothrombocytopenia, MIM: 231200</li><li>Missing  at 195: in BSS, MIM: 231200</li><li>C->S at 225: in BSS, MIM: 231200</li><li>G->S at 249: in pseudo-vWD, MIM: 231200</li><ul><li>G->A at 249: No change</li><li>G->K,D at 249: Decreased binding to vWF</li><li>G->S,V at 249: Increased binding to vWF</li></ul><li>G->V at 249: in pseudo-vWD, MIM: 231200</li><ul><li>G->A at 249: No change</li><li>G->K,D at 249: Decreased binding to vWF</li><li>G->S,V at 249: Increased binding to vWF</li></ul><li>A->S at 254: in dbSNP:rs382524, MIM: 231200</li></ul><li>M->V at 255: in pseudo-vWD; increased binding to vWF, MIM: 231200</li></ul>			binding	GO:0005488			<li>P80012</li><li>Q28833</li><li>P04275</li><li>Q8CIZ8</li><li>Q28295</li>	<li>Benign mediterranean macrothrombocytopenia [MIM:153670]</li><li>Bernard-Soulier syndrome (BSS) [MIM:231200]</li>	<li>rs382524</li><li>rs6065</li><li>rs13306411</li><li>rs6068</li>	4
P07477	5644	<ul><li>Y->F at 154: Lack of sulfation</li></ul>	<li>A->V at 16: in HPC; disrupts signal sequence cleavage site, MIM: 167800</li><li>D->G at 22: in HPC; increased rate of activation, MIM: 167800</li><li>K->R at 23: in HPC; increased rate of activation, MIM: 167800</li><li>N->I at 29: in HPC, MIM: 167800</li><li>N->T at 29: in HPC, MIM: 167800</li><li>N->S at 54: in HPC; associated with Ile-29; the double mutant shows increased autocatalytic activation which is solely due to the Ile-29 mutation, MIM: 167800</li><li>E->K at 79: in HPC; Lys-79 trypsin activates anionic trypsinogen PRSS2 2-fold while the common pancreatitis-associated mutants His-122 or Ile-29 have no such effect: in dbSNP rsrs28934902, MIM: 167800</li><li>L->P at 104: in HPC, MIM: 167800</li><li>R->C at 116: in HPC, MIM: 167800</li><li>R->C at 122: in HPC; suppresses an autocleavage site, MIM: 167800</li><li>R->H at 122: in HPC; suppresses an autocleavage site which is probably part of a fail-safe mechanism by which trypsin, which is activated within the pancreas, may be inactivated; loss of this cleavage site would permit autodigestion resulting in pancreatitis, MIM: 167800</li><li>T->M at 137: in a colorectal cancer sample; somatic mutation, MIM: 167800</li><li>C->F at 139: in HPC, MIM: 167800</li>							<li>P05821</li><li>P13345</li><li>P23630</li><li>P13344</li><li>P35050</li><li>P23916</li><li>P07478</li><li>P51728</li><li>Q03709</li><li>P24664</li><li>Q59149</li><li>Q9T1X2</li><li>P10099</li><li>P15176</li><li>P83348</li>	Hereditary pancreatitis (HPC) [MIM:167800]	rs28934902	3
P07550	154	<ul><li>D->N at 79: Affects binding of catecholamines, and produces an uncoupling between the receptor and stimulatory G proteins</li><li>C->G at 341: Uncoupled receptor</li><li>SS->AA at 345-346: Delayed agonist-promoted desensitization</li></ul>	<li>N->S at 15: in dbSNP:rs33973603</li><li>R->G at 16: common polymorphism; in nocturnal asthma; dbSNP:rs1042713</li><li>Q->E at 27: in dbSNP:rs1042714</li><li>V->M at 34</li><li>I->F at 159</li><li>I->L at 159</li><li>T->I at 164: in dbSNP:rs1800888</li><li>S->C at 220: in dbSNP:rs3729943</li><li>K->R at 375</li>			binding	GO:0005488					<li>rs1042713</li><li>rs33973603</li><li>rs1042714</li><li>rs1800888</li><li>rs3729943</li>	3
P07602	5660	<ul><li>I->C at 240: Strongly decreases stimulation of cerebroside sulfate hydrolysis</li></ul>	<li>Missing  at 70: in AKRD</li><li>N->H at 215: in MLD; reduces the intracellular activity of the protein significantly, MIM: 249900</li><li>N->K at 215: in MLD, MIM: 249900</li><li>T->I at 217: in MLD; juvenile, MIM: 249900</li><li>C->S at 241: in MLD; severe; dbSNP:rs1130793, MIM: 249900</li><li>L->P at 349: in AGD, MIM: 610539</li><li>C->F at 388: in AGD, MIM: 610539</li>					intracellular	GO:0005622		<li>Atypical Gaucher disease (AGD) [MIM:610539]</li><li>Metachromatic leukodystrophy (MLD) [MIM:249900]</li>	rs1130793	3
P07910	3183	<ul><li>K->R at 197: No effect on sumoylation</li><li>K->R at 250: Loss of sumoylation</li></ul>	<li>R->Q at 167: in dbSNP:rs3272</li>	sumoylation	GO:0016925							rs3272	3
P07998	6035	<ul><li>NG->RS at 116-117: No effect on inhibition by RNase inhibitor 1</li></ul>								P13489			1
P08069	3480	<ul><li>Y->F at 980: Reduces tyrosine phosphorylation. Abolishes interaction with IRS1 and SHC1. Does not abolish interaction with PIK3R1</li><li>K->A at 1033: Kinase inactive. Abolishes tyrosine phosphorylation and abolishes interaction with IRS1, SHC1 and PIK3R1</li></ul>	<li>V->L at 105: in a renal chromophobe sample; somatic mutation</li><li>R->Q at 138: in IGF1 resistance; has decreased IGF1R function</li><li>K->N at 145: in IGF1 resistance; has decreased IGF1R function</li><li>V->M at 388: in dbSNP rsrs45445894</li><li>R->H at 437: in dbSNP:rs34516635</li><li>R->Q at 511: in dbSNP:rs33958176</li><li>R->H at 595: in dbSNP rsrs56248469</li><li>R->H at 605: in dbSNP rsrs45553041</li><li>R->Q at 739: in IGF1 resistance; leads to failure of processing of the IGF1R proreceptor to mature IGF1R</li><li>H->R at 808: in dbSNP:rs34061581</li><li>A->T at 828: in dbSNP:rs35224135</li><li>N->S at 857: in dbSNP rsrs45611935</li><li>A->T at 1338: in dbSNP rsrs34102392</li><li>A->V at 1347: in a lung squamous cell carcinoma sample; somatic mutation</li>	phosphorylation	GO:0016310					<li>P05019</li><li>P23727</li><li>Q28224</li><li>P35568</li><li>P51462</li><li>P07455</li><li>Q05688</li><li>P27986</li><li>P10763</li><li>P33712</li><li>Q29000</li><li>P09715</li><li>P29353</li><li>P17647</li><li>Q6IVA5</li><li>Q6GUL6</li><li>Q28933</li><li>Q68LC0</li><li>P16545</li><li>P51457</li><li>P51458</li><li>P01343</li><li>P08069</li><li>Q6JLX1</li><li>Q95222</li><li>P18254</li>		<li>rs56248469</li><li>rs34061581</li><li>rs35224135</li><li>rs45553041</li><li>rs45445894</li><li>rs34102392</li><li>rs34516635</li><li>rs45611935</li><li>rs33958176</li>	3
P08195	6520	<ul><li>C->S at 109: Abolishes dimerization, leucine uptake and interaction with beta-1 integrins</li><li>C->S at 330: No effect on dimerization, leucine uptake or interaction with beta-1 integrins</li></ul>											1
P08235	4306	<ul><li>S->N at 767: Loss of transcription transactivation</li><li>S->Q at 767: Strong decrease of transcription transactivation</li><li>N->A,D,H,Q,S,T at 770: Abolishes aldosterone binding and transcription transactivation</li><li>Q->A at 776: Reduces aldosterone binding and transcription transactivation</li><li>K->E at 782: Decreased coactivator binding</li><li>K->E at 785: Loss of coactivator binding</li><li>E->R at 796: Decreased coactivator binding</li><li>C->S at 808: Increases aldosterone-binding</li><li>S->M at 810: Alters receptor specificity</li><li>R->A at 817: Reduces aldosterone binding and transcription transactivation</li><li>C->S at 849: Strongly decreases affinity for aldosterone and transcription transactivation</li><li>C->S at 942: Abolishes steroid binding and transcription transactivation</li><li>T->A at 945: Decreases aldosterone-binding and cortisol-binding</li><li>L->A at 952: Reduces transcription transactivation</li><li>K->A at 953: Slightly reduces aldosterone binding and abolishes transcription transactivation</li><li>V->A at 954: Reduces aldosterone binding and abolishes transcription transactivation</li><li>F->A at 956: Abolishes aldosterone binding and transcription transactivation</li><li>P->A at 957: Slightly reduces aldosterone binding and transcription transactivation</li></ul>	<li>H->Q at 7: in a colorectal cancer sample; somatic mutation</li><li>I->V at 180: high frequency in healthy individuals; found in a patient with sporadic pseudohypoaldosteronism type I; increases transcription transactivation at low aldosterone concentrations; dbSNP:rs5522</li><li>A->V at 241: high frequency in healthy individuals; found in a patient with sporadic pseudohypoaldosteronism type I; reduces transcription transactivation upon aldosterone binding</li><li>N->T at 444: in dbSNP:rs5523</li><li>R->Q at 537: in dbSNP:rs5526</li><li>N->S at 554: in dbSNP:rs5527</li><li>G->R at 633: in PHA1; reduces transcription transactivation upon aldosterone binding, MIM: 177735</li><li>C->S at 645: in PHA1, MIM: 177735</li><li>R->S at 659: in PHA1, MIM: 177735</li><li>P->S at 759: in PHA1, MIM: 177735</li><li>L->P at 769: in PHA1, MIM: 177735</li><li>N->K at 770: in PHA1, MIM: 177735</li><ul><li>N->A,D,H,Q,S,T at 770: Abolishes aldosterone binding and transcription transactivation</li></ul><li>Q->R at 776: in PHA1; reduces aldosterone binding, MIM: 177735</li><ul><li>Q->A at 776: Reduces aldosterone binding and transcription transactivation</li></ul><li>S->P at 805: in PHA1, MIM: 177735</li></ul><li>S->L at 810: in early onset hypertension; alters receptor specificity and leads to constitutive activation: in dbSNP rsrs41511344, MIM: 177735</li><ul><li>S->M at 810: Alters receptor specificity</li></ul><li>S->R at 815: in PHA1, MIM: 177735</li></ul><li>S->L at 818: in PHA1; abolishes translocation to the nucleus and transcription transactivation upon aldosterone binding, MIM: 177735</li></ul><li>F->Y at 826: in dbSNP:rs13306592, MIM: 177735</li></ul><li>L->P at 924: in PHA1; abolishes transcription transactivation upon aldosterone binding, MIM: 177735</li></ul><li>E->G at 972: in PHA1; reduces affinity for aldosterone and transcription transactivation, MIM: 177735</li></ul><li>L->P at 979: in PHA1; loss of aldosterone binding and transcription transactivation, MIM: 177735</li></ul>	transcription	GO:0006350	<li>binding</li><li>steroid binding</li>	<li>GO:0005488</li><li>GO:0005496</li>	nucleus	GO:0005634		Autosomal dominant pseudohypoaldosteronism type I (PHA1) [MIM:177735]	<li>rs5526</li><li>rs5527</li><li>rs5522</li><li>rs5523</li><li>rs41511344</li><li>rs13306592</li>	4
P08243	440	<ul><li>C->A at 2: Loss of the glutamine-dependent asparagine synthetase activity, while the ammonia-dependent activity remained unaffected</li></ul>	<li>V->E at 210: in dbSNP:rs1049674</li>							<li>Q5R6W9</li><li>P49094</li><li>Q61024</li><li>P49091</li><li>P49088</li><li>P49078</li><li>O24338</li><li>Q5ZJU3</li><li>P78753</li><li>P08243</li><li>O24661</li><li>Q5UQE1</li><li>P19891</li><li>Q43011</li><li>P19251</li><li>P19252</li><li>P17714</li>		rs1049674	3
P08514	3674	<ul><li>PP->AA at 1029-1030: Imparts constitutive activity (ligand-binding) to alpha-IIb/beta-3</li></ul>	<li>T->I at 40: in dbSNP:rs5915</li><li>L->P at 86: in GT; cells co-transfected with mutated alpha-IIb and wild-type beta-3 scarcely expressed the alpha-IIb/beta-3 complex, MIM: 273800</li><li>A->V at 139: in GT, MIM: 273800</li><li>C->W at 161: in GT, MIM: 273800</li><li>Y->H at 174: in GT; abolishes the binding function of alpha-IIb/beta-3 for soluble ligands without disturbing alpha-IIb/beta-3 expression; functional defect is likely caused by its allosteric effect rather than by a defect in the ligand-binding site itself, MIM: 273800</li><li>P->A at 176: in GT; impairs surface expression of alpha-IIb/beta-3 and abrogates ligand binding to the activated integrin, MIM: 273800</li><li>P->L at 176: in GT; impairs surface expression of alpha-IIb/beta-3, MIM: 273800</li><li>F->C at 202: in GT; associated with abrogation of alpha-IIb/beta-3 complex formation, MIM: 273800</li><li>T->I at 207: in GT, MIM: 273800</li><li>L->P at 214: in GT; disrupts the structural conformation and the ligand binding properties of the heterodimeric complex; in addition the mutation appears to confer susceptibility to proteolysis, MIM: 273800</li><li>F->L at 222: in GT, MIM: 273800</li><li>G->E at 267: in GT, MIM: 273800</li><li>G->D at 273: in GT; alters the heterodimer conformation thus impairing their intracellular transport, MIM: 273800</li><li>G->A at 313: in dbSNP:rs1126554, MIM: 273800</li><li>F->S at 320: in GT; type I; impairs surface expression of alpha-IIb/beta-3, MIM: 273800</li><li>V->F at 329: in GT; expression of mutant subunit alpha-IIb/bet-3 is 28% of control; mutant pro-alpha-IIb subunit is retained in the endoplasmic reticulum, MIM: 273800</li><li>E->K at 355: in GT; type I; impairs surface expression of alpha-IIb/beta-3, MIM: 273800</li><li>R->H at 358: in GT; type II, MIM: 273800</li><li>G->D at 380: in GT, MIM: 273800</li><li>I->T at 405: in GT; expression of mutant subunit alpha-IIb/bet-3 is 11% of control; mutant pro-alpha-IIb subunit is retained in the endoplasmic reticulum, MIM: 273800</li><li>G->R at 412: in GT, MIM: 273800</li><li>G->D at 449: in GT; type I, MIM: 273800</li><li>Missing  at 456-457: in GT; alteres the conformation of heterodimers such that they were neither recognized by the heterodimer-specific antibody A2A9 nor able to undergo further intracellular processing or transport to the cell surface, MIM: 273800</li><li>A->D at 581: in GT, MIM: 273800</li><li>I->T at 596: in GT; type I, MIM: 273800</li><li>V->L at 649: in dbSNP:rs7207402, MIM: 273800</li><li>C->R at 705: in GT; type II; the rate of subunit maturation and the surface exposure of ghlycoprotein IIb/beta-3 are strongly reduced, MIM: 273800</li><li>L->V at 752: in GT, MIM: 273800</li><li>R->P at 755: in GT, MIM: 273800</li><li>Q->P at 778: in GT; type II, MIM: 273800</li><li>L->P at 847: in GT, MIM: 273800</li><li>I->S at 874: alloantigen HPA-3B; dbSNP:rs5911, MIM: 273800</li><li>P->L at 943: in GT; marked reduction in the rate of surface expression, MIM: 273800</li><li>Y->N at 968: in dbSNP:rs5914, MIM: 273800</li><li>V->M at 982: in GT; much reduced surface expression of alpha-IIb/beta-3 and a block in the maturation of pro-alpha-IIb, MIM: 273800</li><li>A->T at 989, MIM: 273800</li><li>R->Q at 1026: in GT, MIM: 273800</li>	<li>transport</li><li>intracellular transport</li>	<li>GO:0006810</li><li>GO:0046907</li>	binding	GO:0005488	<li>intracellular</li><li>endoplasmic reticulum</li><li>cell surface</li>	<li>GO:0005622</li><li>GO:0005783</li><li>GO:0009928,GO:0009986</li>	<li>O82030</li><li>Q9FEW2</li><li>Q9Y251</li><li>Q90YK5</li>	Glanzmann thrombasthenia (GT) [MIM:273800]	<li>rs5911</li><li>rs7207402</li><li>rs5915</li><li>rs5914</li><li>rs1126554</li>	3
P08575	5788	<ul><li>C->S at 851: Loss of activity. Abolishes interaction with SKAP1</li></ul>	<li>T->A at 191: in dbSNP:rs4915154</li><li>E->A at 228: in a breast cancer sample; somatic mutation</li><li>I->L at 294: in dbSNP:rs2230606</li><li>Missing  at 362-363: in T</li><li>T->I at 421: in dbSNP:rs6696162</li><li>H->Q at 568: in dbSNP:rs12136658</li><li>G->R at 863: in a breast cancer sample; somatic mutation</li><li>S->R at 1283: in dbSNP:rs2298872</li>									<li>rs4915154</li><li>rs6696162</li><li>rs2230606</li><li>rs2298872</li><li>rs12136658</li>	3
P08588	153	<ul><li>E->A,D at 474: Loss of interaction with GOPC</li><li>E->K at 474: Loss of interaction with GOPC; when associated with A-477</li><li>S->A at 475: Loss of interaction with GOPC</li><li>S->T at 475: Partial loss of interaction with GOPC</li><li>K->A at 476: Partial loss of interaction with GOPC</li><li>V->A,F,L,I,M at 477: Loss of interaction with GOPC</li></ul>	<li>S->G at 49: associated with high mean resting heart rate; dbSNP:rs1801252</li><li>R->G at 389: reduced binding to G proteins; dbSNP:rs1801253</li><li>R->L at 389</li>			binding	GO:0005488			<li>Q9HD26</li><li>Q5RD32</li>		<li>rs1801253</li><li>rs1801252</li>	3
P08686	1589	<ul><li>S->C,M,T at 268: No loss of function</li><li>V->I at 281: Normal KM but 50% reduced Vmax</li><li>V->T at 281: Normal KM but 10% reduced Vmax</li><li>C->M,S,T at 428: Loss of activity and loss of P450 absorption</li></ul>	<li>L->LL at 9: in allele CYP21A2*2</li><li>A->T at 15: in AH3; salt wasting form; no significant difference in activity compared with the wild-type, MIM: 201910</li><li>P->L at 30: in AH3; non-classic form; 50% activity; 10% of non-classic AH3 Texan patients, MIM: 201910</li><li>P->Q at 30: in AH3; does not affect membrane binding; enzyme function abolished, MIM: 201910</li><li>H->L at 62: in AH3, MIM: 201910</li><li>G->E at 64: in AH3; no activity, MIM: 201910</li><li>G->V at 90: in AH3, MIM: 201910</li><li>K->R at 98, MIM: 201910</li><li>K->R at 102: in allele CYP21A2*3: in dbSNP rsrs6474, MIM: 201910</li><li>P->L at 105: in AH3, MIM: 201910</li><li>R->H at 124: in AH3, MIM: 201910</li><li>C->Y at 169: in AH3, MIM: 201910</li><li>I->N at 172: in AH3; simple virilizing form; 1-2% activity, MIM: 201910</li><li>G->A at 178: in AH3, MIM: 201910</li><li>D->E at 183: in allele CYP21A2*4: in dbSNP rsrs1040310, MIM: 201910</li><li>Missing  at 196: in AH3; moderate, MIM: 201910</li><li>V->L at 211: in AH3; non-classic form; pathogenicity uncertain, MIM: 201910</li><li>I->N at 236: in AH3; salt wasting form, MIM: 201910</li><li>V->E at 237: in AH3; salt wasting form: in dbSNP rsrs12530380, MIM: 201910</li><li>M->K at 239: in AH3; salt wasting form: in dbSNP rsrs6476, MIM: 201910</li><li>L->P at 261: in AH3, MIM: 201910</li><li>S->T at 268: in allele CYP21A2*5; dbSNP:rs6472, MIM: 201910</li><ul><li>S->C,M,T at 268: No loss of function</li></ul><li>V->G at 281: in AH3; salt wasting form, MIM: 201910</li><ul><li>V->I at 281: Normal KM but 50% reduced Vmax</li><li>V->T at 281: Normal KM but 10% reduced Vmax</li></ul><li>V->L at 281: in AH3; non-classic form; 50% activity; most common variant; 59% of non-classic AH3 Texan patients; normal KM but 20% reduced Vmax; dbSNP:rs6471, MIM: 201910</li><ul><li>V->I at 281: Normal KM but 50% reduced Vmax</li><li>V->T at 281: Normal KM but 10% reduced Vmax</li></ul><li>M->L at 283: in AH3, MIM: 201910</li></ul><li>G->C at 291: in AH3, MIM: 201910</li></ul><li>G->R at 291: in AH3, MIM: 201910</li></ul><li>G->S at 291: in AH3; salt wasting form; less then 1% activity, MIM: 201910</li></ul><li>L->F at 300: in AH3; salt wasting form, MIM: 201910</li></ul><li>S->Y at 301: in AH3, MIM: 201910</li></ul><li>V->M at 304: in hyperandrogenism; due to 21-hydroxylase deficiency; non-classic type; residual activity of 46% for conversion of 17-hydroxyprogesterone and 26% for conversion of progesterone compared with the normal enzyme, MIM: 201910</li></ul><li>L->M at 317: in AH3, MIM: 201910</li></ul><li>R->H at 339: in AH3; non-classic form; 50% activity, MIM: 201910</li></ul><li>R->P at 341: in AH3, MIM: 201910</li></ul><li>R->W at 341: in AH3; non-classic form; mild, MIM: 201910</li></ul><li>R->C at 354: in AH3; salt wasting form, MIM: 201910</li></ul><li>R->H at 354: in AH3, MIM: 201910</li></ul><li>R->P at 356: in AH3; salt wasting form; 0.15% activity, MIM: 201910</li></ul><li>R->Q at 356: in AH3; simple virilizing form; mild; 0.65% activity, MIM: 201910</li></ul><li>R->W at 356: in AH3; salt wasting form, MIM: 201910</li></ul><li>A->V at 362: in AH3; no activity, MIM: 201910</li></ul><li>L->W at 363: in AH3, MIM: 201910</li></ul><li>H->Y at 365: in AH3, MIM: 201910</li></ul><li>G->S at 375: in hyperandrogenism; due to 21-hydroxylase deficiency; almost completely abolished enzyme activity, MIM: 201910</li></ul><li>E->D at 380: in AH3; salt wasting form, MIM: 201910</li></ul><li>R->C at 408: in AH3; should lead to complete impairment of enzymatic activity, MIM: 201910</li></ul><li>G->S at 424: in AH3, MIM: 201910</li></ul><li>R->H at 426: in AH3; exhibit only low enzyme activity toward 17-hydroxyprogesterone, MIM: 201910</li></ul><li>R->C at 435: in AH3, MIM: 201910</li></ul><li>P->S at 453: in AH3; non-classic form; 50% activity; 23% of non-classic AH3 Texan patients; almost completely abolished enzyme activity when associated with S-375; dbSNP:rs6445, MIM: 201910</li></ul><li>R->L at 479: in AH3, MIM: 201910</li></ul><li>P->S at 482: in AH3; rediced enzyme activity to 70% of normal, MIM: 201910</li></ul><li>R->P at 483: in AH3; moderate; 1-2% of activity, MIM: 201910</li></ul><li>R->Q at 483: in AH3, MIM: 201910</li></ul><li>R->W at 483: in AH3; salt wasting form, MIM: 201910</li></ul><li>N->S at 493: in AH3; could be a polymorphism; allele CYP21A2*6; dbSNP:rs6473, MIM: 201910</li></ul>			binding	GO:0005488	membrane	GO:0016020	P08686	Adrenal hyperplasia type 3 (AH3) [MIM:201910]	<li>rs6474</li><li>rs6476</li><li>rs1040310</li><li>rs12530380</li>	4
P08727	3880	<ul><li>S->A at 10: No effect on phosphorylation; no functional effect</li><li>S->A at 35: Abolishes phosphorylation; induces perinuclear collapse or short cytoplasmic filaments</li></ul>	<li>G->A at 60: in dbSNP:rs4602</li>	phosphorylation	GO:0016310							rs4602	3
P08887	3570	<ul><li>C->S at 121: Complete loss of ligand-binding</li><li>F->A at 122: No change of ligand-binding and IL6 signaling</li><li>C->A at 132: Complete loss of ligand-binding</li><li>W->L at 134: Complete loss of ligand-binding</li><li>P->G at 140: No change of ligand-binding and IL6 signaling</li><li>F->L at 153: No change of ligand-binding and IL6 signaling</li><li>C->L at 165: Complete loss of ligand-binding</li><li>F->L at 174: No change of ligand-binding and IL6 signaling</li><li>C->A at 176: Complete loss of ligand-binding</li><li>D->T at 184: 30% decrease of ligand-binding and IL6 signaling</li><li>V->G at 190: 80% decrease of ligand-binding and no IL6 signaling</li><li>C->D at 193: Complete loss of ligand-binding</li><li>C->A at 211: No change of ligand-binding and IL6 signaling</li><li>D->V at 217: Complete loss of ligand-binding</li><li>R->S at 232: 30% decrease of ligand-binding and IL6 signaling</li><li>W->Q at 233: 30% decrease of ligand-binding and increase of IL6 signaling</li><li>E->A at 254: 50% decrease of ligand-binding and IL6 signaling</li><li>C->D at 277: 30% increase of ligand-binding and 100% increase in IL6 signaling</li><li>V->N at 278: 50% Decrease of ligand-binding and 50% increase in IL6 signaling</li><li>I->D at 279: Complete loss of ligand-binding</li><li>H->I at 280: No change of ligand-binding and no IL6 signaling</li><li>D->G at 281: 70% decrease of ligand-binding and no IL6 signaling</li><li>G->D at 285: 80% decrease of ligand-binding and no IL6 signaling</li><li>Q->K at 291: Complete loss of ligand-binding</li><li>R->G at 293: Complete loss of ligand-binding</li></ul>	<li>D->A at 358: in dbSNP:rs2228145</li><li>V->I at 385: in dbSNP:rs28730736</li>			binding	GO:0005488			<li>P46650</li><li>O35736</li><li>P26892</li><li>Q6V919</li><li>P26893</li><li>P29455</li><li>Q25BC2</li><li>Q9XT80</li><li>Q28319</li><li>Q2MH06</li><li>P41683</li><li>Q865X6</li><li>Q865W7</li><li>Q28747</li><li>P51494</li><li>P05231</li><li>P41693</li><li>Q9MZR1</li><li>P41323</li><li>P79341</li><li>Q28819</li><li>Q95181</li><li>Q5I6E3</li><li>Q8MKH0</li>		<li>rs28730736</li><li>rs2228145</li>	3
P08913	150	<ul><li>D->N at 79: No change in binding affinity. eliminates guanine nucleotide-sensitive agonist binding</li><li>D->N at 113: No binding to yohimbine. Increase in adenylate cyclase activity</li><li>D->N at 130: Lower affinity for agonists. Eliminates guanine nucleotide-sensitive agonist binding</li><li>S->A at 200: Lower affinity for agonists. No change in guanine nucleotide-sensitive agonist binding</li><li>S->A at 204: Lower affinity for agonists. Reduced guanine nucleotide-sensitive agonist binding</li><li>F->N at 412: 350-fold reduced affinity for alpha-2 antagonist yohimbine, 3000-fold increase for beta-antagonist alprenolol</li></ul>	<li>N->K at 251: rare polymorphism; frequency in Caucasians 0.004 and in African-Americans 0.05; 40% increase in agonist-promoted Gi coupling; dbSNP:rs1800035</li>			binding	GO:0005488			<li>P00936</li><li>P23466</li><li>P30528</li><li>Q59685</li><li>Q9WXC3</li><li>P0A1A7</li><li>Q05766</li><li>P0A1A8</li><li>P40134</li><li>P40135</li><li>P40130</li><li>P14605</li><li>Q59119</li><li>P43524</li><li>P27580</li><li>P08678</li><li>P40127</li><li>Q8XAP1</li><li>Q8FBP0</li><li>P0A4Y1</li><li>P0A4Y0</li><li>Q01513</li><li>P59739</li><li>P49606</li><li>Q01631</li>		rs1800035	3
P09012	6626	<ul><li>T->V at 11: Abolishes RNA binding</li><li>Y->F at 13: Substantially reduces RNA binding</li><li>N->V at 15: Abolishes RNA binding</li><li>N->V at 16: Substantially reduces RNA binding</li><li>R->Q at 52: Abolishes RNA binding</li></ul>				RNA binding	GO:0003723						1
P09086	5452	<ul><li>VIR->FNP at 340-342: Suppresses DNA-binding ability</li></ul>				DNA-binding	GO:0003677						1
P09467	2203	<ul><li>D->A at 119: Reduced activity</li><li>D->A at 122: Reduced activity</li></ul>	<li>G->S at 164: in FBPD, MIM: 229700</li><li>A->D at 177: in FBPD, MIM: 229700</li><li>F->S at 194: in FBPD, MIM: 229700</li><li>K->R at 218: in dbSNP:rs1769259, MIM: 229700</li><li>F->I at 233: in dbSNP:rs2297085, MIM: 229700</li><li>R->L at 255: in dbSNP:rs28369761, MIM: 229700</li><li>P->R at 284: in FBPD, MIM: 229700</li><li>V->A at 325, MIM: 229700</li>								Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]	<li>rs28369761</li><li>rs2297085</li><li>rs1769259</li>	3
P09486	6678	<ul><li>R->A,L,K at 166: Strongly reduced collagen binding</li><li>N->A,Q at 173: Strongly reduced collagen binding</li><li>L->A at 259: Loss of collagen binding</li><li>M->A at 262: Strongly reduced collagen binding</li><li>E->A at 263: Loss of collagen binding</li></ul>	<li>P->S at 19: in dbSNP:rs6874468</li>			collagen binding	GO:0005518					rs6874468	3
P09488	2944	<ul><li>H->S at 108: Changes the properties of the enzyme toward some substrates</li></ul>	<li>K->N at 173: in allele GSTM1B: in dbSNP rsrs1065411</li><li>S->T at 210: in dbSNP:rs449856</li>									<li>rs1065411</li><li>rs449856</li>	3
P09603	1435	<ul><li>Missing at 489-554: Produces biologically active protein which is secreted</li></ul>	<li>S->N at 341: in dbSNP:rs12565736</li><li>L->P at 408: in dbSNP:rs1058885</li><li>G->R at 438: in dbSNP:rs2229165</li><li>S->F at 489: in dbSNP:rs333971</li><li>S->F at 496: in dbSNP rsrs12721516</li><li>A->V at 531: in dbSNP:rs2229167</li>									<li>rs333971</li><li>rs12721516</li><li>rs1058885</li><li>rs2229165</li><li>rs12565736</li><li>rs2229167</li>	3
P09651	3178	<ul><li>G->A at 326: No nuclear import nor export</li><li>P->A at 327: No nuclear import nor export</li><li>GG->LL at 334-335: Normal nuclear import and export</li></ul>	<li>N->S at 73: in dbSNP:rs6533</li>	nuclear import	GO:0051170							rs6533	3
P09693	917	<ul><li>L->A at 153: Abolishes lysosomal targeting</li><li>L->I at 153: Diminished but persistent lysosomal targeting</li><li>L->A at 154: Diminished but persistent lysosomal targeting</li><li>L->I at 154: No effect</li><li>Y->A at 160: Abolishes lysosomal targeting</li><li>L->A at 163: Abolishes lysosomal targeting</li></ul>	<li>V->F at 131: in dbSNP:rs3753058</li>									rs3753058	3
P09874	142	<ul><li>L->P at 797: 1.5% of wild-type activity</li><li>N->S at 868: 4% of wild-type activity</li><li>M->V at 890: <0.5% of wild-type activity</li><li>K->I at 893: Abolishes enzymatic activity</li><li>F->S at 897: 10% of wild-type activity</li><li>D->N at 899: 0.6% of wild-type activity</li><li>C->R at 908: <0.5% of wild-type activity</li><li>L->F at 926: 1.5% of wild-type activity</li><li>Y->H at 986: 14% of wild-type activity and increased branching 15-fold</li><li>E->K at 988: 1.25% of wild-type activity; only monomers are added</li><li>L->P at 1003: 1.5% of wild-type activity</li></ul>	<li>F->L at 54: in dbSNP:rs3738708</li><li>A->T at 188: in dbSNP:rs1805409</li><li>V->I at 334: in dbSNP:rs3219057</li><li>P->S at 377: in dbSNP:rs2230484</li><li>S->Y at 383: in dbSNP:rs3219062</li><li>E->V at 488: in a breast cancer sample; somatic mutation</li><li>V->A at 762: in dbSNP:rs1136410</li><li>K->R at 940: in dbSNP:rs3219145</li>									<li>rs1136410</li><li>rs2230484</li><li>rs3219062</li><li>rs3738708</li><li>rs3219057</li><li>rs3219145</li><li>rs1805409</li>	3
P09917	240	<ul><li>D->N at 359: No loss of activity</li><li>H->S,N at 363: Still some substantial activity</li><li>H->S,N,A at 368: No activity</li><li>H->S,N at 373: No activity</li><li>E->Q at 377: No activity</li><li>H->A at 391: No activity</li><li>H->S,N at 391: Still some substantial activity</li><li>H->A at 400: No activity</li><li>H->S,N at 400: Still some substantial activity</li><li>H->N,A at 433: Almost no loss of activity</li><li>S->A at 524: Prevents phosphorylation by PKA</li><li>H->N,A at 551: No activity</li></ul>	<li>E->K at 254: in dbSNP:rs2228065</li>	phosphorylation	GO:0016310	PKA	GO:0004691					rs2228065	3
P09936	7345	<ul><li>Q->R at 73: No effect on enzymatic parameters</li><li>C->S at 90: Abolishes enzymatic activity</li><li>H->Q,N at 97: 2-fold increase in affinity for ubiquitin ethyl ester, slight reduction in enzymatic activity</li><li>H->D at 161: 10000-fold decrease in enzymatic activity; no change in affinity for ubiquitin ethyl ester</li><li>H->K,Q,N,Y at 161: Abolishes enzymatic activity</li><li>D->N at 176: 6-fold decrease in affinity for ubiquitin ethyl ester; 97.5% decrease in enzymatic activity</li></ul>	<li>S->Y at 18: may reduce the risk for PD; loss of dimerization ability and impaired ligase activity; dbSNP:rs5030732</li><li>I->M at 93: in a PD patient; impaired enzymatic hydrolase activity</li>			<li>hydrolase activity</li><li>ligase activity</li>	<li>GO:0016787</li><li>GO:0016874</li>			<li>P69326</li><li>P08565</li><li>P69322</li><li>P69323</li><li>P69324</li><li>P69325</li><li>P68196</li><li>O46543</li><li>P68197</li><li>Q05550</li><li>P68198</li><li>P68199</li><li>P19848</li><li>P68195</li><li>P42739</li><li>Q867C2</li><li>P62991</li><li>P62990</li><li>P61863</li><li>P61864</li><li>P61862</li><li>Q867C4</li><li>Q867C3</li><li>P23398</li><li>P68204</li><li>P84589</li><li>Q865C5</li><li>P42740</li><li>P68201</li><li>Q8MKD1</li><li>P14792</li><li>P63049</li><li>P0C072</li><li>P63051</li><li>P69308</li><li>P69309</li><li>P20685</li><li>P15174</li><li>P62976</li><li>P62977</li><li>P62974</li><li>P62975</li><li>P62972</li><li>P13117</li><li>P14624</li><li>P62973</li><li>P46574</li><li>P69310</li><li>P69313</li><li>P69314</li><li>P69311</li><li>P69312</li><li>P08618</li><li>P69317</li><li>P69318</li><li>P0C014</li><li>P69315</li><li>P69316</li><li>P59263</li><li>P69319</li><li>P49634</li><li>P49635</li><li>P22589</li><li>Q9Y848</li><li>P62988</li><li>P62989</li><li>P23324</li><li>P69321</li><li>P69320</li><li>P59669</li>		rs5030732	3
P09960	4048	<ul><li>Q->A at 137: No loss of activity</li><li>Q->L at 137: Aminopeptidase activity strongly impaired, but keeps LTA4 activity</li><li>Q->N at 137: Aminopeptidase activity almost absent, but keeps LTA4 activity</li><li>G->A at 269: No loss of activity</li><li>G->A at 270: No loss of activity</li><li>M->L at 271: No loss of activity</li><li>E->A,D at 272: Complete loss of activity</li><li>E->Q at 272: Loss of LTA4 activity, and aminopeptidase activity strongly impaired</li><li>N->A at 273: No loss of activity</li><li>H->Y at 296: Complete loss of activity</li><li>E->A at 297: Loss of both activities</li><li>E->K at 297: Loss of both activities</li><li>E->Q at 297: Loss of aminopeptidase activity, but keeps LTA4 activity</li><li>H->L at 300: Complete loss of activity</li><li>E->A at 319: Complete loss of activity</li></ul>	<li>Y->H at 131: in dbSNP:rs45630737</li>							<li>P09960</li><li>P80561</li><li>P80474</li>		rs45630737	3
P0C0S8	8329	<ul><li>S->A at 2: Blocks the inhibition of transcription by RPS6KA5/MSK1</li></ul>		transcription	GO:0006350					<li>P32048</li><li>Q5F3L1</li><li>Q5R4K3</li><li>O75582</li>			1
P0C869	8681	<ul><li>S->A at 335: Abolishes enzyme activity</li><li>H->A at 417: No effect</li><li>D->A at 615: Abolishes enzyme activity</li><li>R->A at 632: Abolishes enzyme activity</li></ul>	<li>R->C at 191: in dbSNP:rs3816533</li><li>M->I at 239: in dbSNP:rs2290552</li><li>R->H at 391: in dbSNP:rs34807597</li>									<li>rs3816533</li><li>rs2290552</li><li>rs34807597</li>	3
P10114	5911	<ul><li>G->V at 12: 2-fold decrease in GDP dissociation rate constant and GTPase activity</li><li>S->N at 17: Severely impairs GTP-binding</li><li>T->A at 35: Decreases affinity for GTP and 3-fold reduction of GTPase activity</li><li>T->I at 145: Imperfect binding of guanyl nucleotides</li></ul>				<li>binding</li><li>GTPase activity</li><li>GTP-binding</li>	<li>GO:0005488</li><li>GO:0003924</li><li>GO:0005525</li>						1
P10147	6348	<ul><li>R->A at 40: Slightly reduces heparin binding</li><li>D->A at 49: Reduces self-association; in BB-10010</li><li>R->A at 68: Strongly reduces heparin binding</li><li>R->A at 70: Reduces heparin binding</li><li>E->A at 89: Reduces self-association</li></ul>	<li>E->D at 78: in dbSNP:rs34171309</li>			heparin binding	GO:0008201					rs34171309	3
P10253	2548	<ul><li>W->R at 516: Loss of activity</li><li>D->G,N,E at 518: Loss of activity</li></ul>	<li>D->N at 91: in allele GAA*2; lower affinity for glycogen and starch but not for lower-molecular weight substrates; dbSNP:rs1800299</li><li>C->G at 103: in GSD2; infantile form; severe; loss of activity; shows enzyme localization primarily in the ER-Golgi compartment suggesting that mutation could affect the normal processing and stability of the enzyme, MIM: 232300</li><li>Y->C at 191: in GSD2; extremely low residual enzymatic activity, MIM: 232300</li><li>R->H at 199: in dbSNP:rs1042393, MIM: 232300</li><li>L->P at 208: in GSD2, MIM: 232300</li><li>G->R at 219: in GSD2; infantile form; severe; loss of activity, MIM: 232300</li><li>H->R at 223: in dbSNP:rs1042395, MIM: 232300</li><li>R->W at 224: in GSD2; infantile; mild partial loss of activity, MIM: 232300</li><li>A->V at 237: in GSD2, MIM: 232300</li><li>E->K at 262: in GSD2; infantile; severe, MIM: 232300</li><li>P->R at 285: in GSD2; juvenile form; mild; partial loss of activity, MIM: 232300</li><li>Y->C at 292: in GSD2; juvenile form; mild; partial loss of activity, MIM: 232300</li><li>G->R at 293: in GSD2; infantile form; severe; almost complete loss of activity, MIM: 232300</li><li>L->R at 299: in GSD2; infantile form, MIM: 232300</li><li>H->L at 308: in GSD2, MIM: 232300</li><li>H->P at 308: in GSD2; infantile form; severe; complete loss of activity, MIM: 232300</li><li>G->R at 309: in GSD2; severe, MIM: 232300</li><li>L->R at 312: in GSD2; infantile form; severe; loss of activity, MIM: 232300</li><li>M->T at 318: in GSD2; severe, MIM: 232300</li><li>P->L at 324: in GSD2, MIM: 232300</li><li>W->G at 330: in GSD2; infantile form; severe, MIM: 232300</li><li>L->P at 355: in GSD2; infantile form; severe; loss of activity, MIM: 232300</li><li>P->L at 361: in GSD2; juvenile form; severe, MIM: 232300</li><li>C->R at 374: in GSD2; infantile form; severe; loss of activity, MIM: 232300</li><li>R->L at 375: in GSD2; extremely low residual enzymatic activity, MIM: 232300</li><li>G->R at 377: in GSD2; severe, MIM: 232300</li><li>Q->R at 401: in GSD2; extremely low residual enzymatic activity, MIM: 232300</li><li>W->R at 402: in GSD2; severe, MIM: 232300</li><li>D->N at 404: in GSD2; severe, MIM: 232300</li><li>L->P at 405: in GSD2; infantile form; severe; loss of activity, MIM: 232300</li><li>M->V at 408: in GSD2; juvenile form; severe, MIM: 232300</li><li>R->C at 437: in GSD2; juvenile form; severe, MIM: 232300</li><li>A->P at 445: in GSD2, MIM: 232300</li><li>Y->F at 455: in GSD2; juvenile form; almost complete loss of activity, MIM: 232300</li><li>P->L at 457: in GSD2; juvenile form, MIM: 232300</li><li>Missing  at 459: in GSD2; infantile form; severe, MIM: 232300</li><li>G->R at 478: in GSD2; severe; loss of activity, MIM: 232300</li><li>W->R at 481: in GSD2; severe; loss of activity, MIM: 232300</li><li>D->N at 489: in GSD2; severe, MIM: 232300</li><li>M->T at 519: in GSD2; severe; loss of activity, MIM: 232300</li><li>M->V at 519: in GSD2, MIM: 232300</li><li>E->K at 521: in GSD2; severe, MIM: 232300</li><li>P->A at 522: in GSD2; no residual enzymatic activity, MIM: 232300</li><li>S->V at 529: in GSD2; mild; requires 2 nucleotide substitutions, MIM: 232300</li><li>P->L at 545: in GSD2; mild; partial loss of activity, MIM: 232300</li><li>G->R at 549: in GSD2; juvenile form; mild; partial loss of activity, MIM: 232300</li><li>L->P at 552: in GSD2; infantile/juvenile form; severe; loss of activity, MIM: 232300</li><li>S->P at 566: in GSD2; infantile form, MIM: 232300</li><li>Y->S at 575: in GSD2; juvenile form, MIM: 232300</li><li>G->A at 576, MIM: 232300</li><li>G->S at 576: retains about half of the activity compared with the wild-type; dbSNP:rs1800307, MIM: 232300</li><li>E->K at 579: in GSD2; infantile form; severe; loss of activity, MIM: 232300</li><li>R->M at 585: in GSD2, MIM: 232300</li><li>S->Y at 599: in GSD2; no residual enzymatic activity, MIM: 232300</li><li>R->C at 600: in GSD2; juvenile form; loss of activity, MIM: 232300</li><li>R->H at 600: in GSD2; infantile form, MIM: 232300</li><li>Missing  at 607-612: in GSD2, MIM: 232300</li><li>G->D at 607: in GSD2; infantile form; severe; loss of activity, MIM: 232300</li><li>H->Q at 612: in GSD2, MIM: 232300</li><li>G->R at 615: in GSD2; infantile/adult form, MIM: 232300</li><li>S->R at 619: in GSD2; loss of function of the mutant enzyme, MIM: 232300</li><li>G->W at 638: in GSD2, MIM: 232300</li><li>G->R at 643: in GSD2; infantile form: in dbSNP rsrs28937909, MIM: 232300</li><li>D->E at 645: in GSD2; infantile form; most common mutation; deficient in phosphorylation and in proteolytic processing: in dbSNP rsrs28940868, MIM: 232300</li><li>D->H at 645: in GSD2; almost complete loss of activity, MIM: 232300</li><li>D->N at 645: in GSD2, MIM: 232300</li><li>C->W at 647: in GSD2, MIM: 232300</li><li>G->S at 648: in GSD2, MIM: 232300</li><li>R->H at 660: in GSD2; loss of function of the mutant enzyme, MIM: 232300</li><li>R->Q at 672: in GSD2, MIM: 232300</li><li>R->T at 672: in GSD2, MIM: 232300</li><li>R->W at 672: in GSD2, MIM: 232300</li><li>Missing  at 675: in GSD2; infantile form, MIM: 232300</li><li>E->K at 689: in allele GAA*4; dbSNP:rs1800309, MIM: 232300</li><li>R->C at 702: in GSD2; no enzymatic activity; shows enzyme localization primarily in the ER-Golgi compartment suggesting that mutation could affect the normal processing and stability of the enzyme, MIM: 232300</li><li>R->W at 725: in GSD2; adult form: in dbSNP rsrs28939100, MIM: 232300</li><li>W->C at 746: in dbSNP:rs1800312, MIM: 232300</li><li>P->R at 768: in GSD2; infantile form, MIM: 232300</li><li>I->V at 780: in dbSNP:rs1126690, MIM: 232300</li><li>V->I at 816: in dbSNP:rs1800314, MIM: 232300</li><li>A->D at 880: in GSD2; infantile form; severe; loss of activity, MIM: 232300</li><li>L->Q at 901: in GSD2; infantile form; severe, MIM: 232300</li><li>Missing  at 903: in GSD2; infantile form; severe; loss of activity, MIM: 232300</li><li>N->NGVPVSN at 925: in GSD2, MIM: 232300</li><li>T->I at 927: loss of glycosylation site; dbSNP:rs1800315, MIM: 232300</li><li>V->D at 949: in GSD2, MIM: 232300</li>	<li>phosphorylation</li><li>localization</li>	<li>GO:0016310</li><li>GO:0051179</li>			ER	GO:0005783	<li>Q9MYM4</li><li>P49095</li><li>P42042</li><li>P10253</li><li>Q5R7A9</li>	Glycogen storage disease type 2 (GSD2) [MIM:232300]	<li>rs1042393</li><li>rs28939100</li><li>rs1800315</li><li>rs28937909</li><li>rs1800314</li><li>rs1800312</li><li>rs28940868</li><li>rs1800299</li><li>rs1800307</li><li>rs1126690</li><li>rs1800309</li><li>rs1042395</li>	3
P10265		<ul><li>D->M at 26: Loss of activity</li></ul>											1
P10275	367	<ul><li>Y->F at 223: Decrease of CSK-induced phosphorylation</li><li>Y->F at 267: Decrease of CSK-induced phosphorylation</li><li>Y->F at 307: Decrease of CSK-induced phosphorylation</li><li>Y->F at 346: Decrease of CSK-induced phosphorylation</li><li>Y->F at 357: Decrease of CSK-induced phosphorylation</li><li>Y->F at 362: Decrease of CSK-induced phosphorylation</li><li>Y->F at 363: Decrease of CSK-induced phosphorylation</li><li>Y->F at 393: Decrease of CSK-induced phosphorylation</li><li>Y->F at 534: Greatest decrease of CSK-induced phosphorylation and inhibition of transcriptional activity induced by EGF</li><li>Y->F at 551: Decrease in CSK-induced phosphorylation</li><li>L->A at 701: Alters receptor specificity, so that transcription is activated by the antiandrogen cyproterone acetate</li><li>K->A at 720: Loss of transcription activation in the presence of androgen and of interaction with NCOA2</li><li>W->L at 741: Strongly decreased transcription activation in the presence of androgen</li><li>E->A,Q at 897: Reduced transcription activation in the presence of androgen</li><li>E->K,R at 897: Loss of transcription activation in the presence of androgen</li><li>Y->F at 915: Decrease in CSK-induced phosphorylation</li></ul>	<li>E->K at 2: in PAIS, MIM: 312300</li><li>L->S at 54: in prostate cancer, MIM: 312300</li><li>L->Q at 57: in prostate cancer, MIM: 312300</li><li>Q->R at 64: in prostate cancer, MIM: 312300</li><li>Missing at 74-78, MIM: 312300</li><li>Q->H at 112: in prostate cancer, MIM: 312300</li><li>K->R at 180: in prostate cancer, MIM: 312300</li><li>Q->R at 194: in AIS, MIM: 300068</li><li>S->R at 205, MIM: 300068</li><li>G->R at 214: in AIS; 20% lower transactivation capacity, MIM: 300068</li><li>L->P at 255: in AIS, MIM: 300068</li><li>M->T at 266: in prostate cancer, MIM: 300068</li><li>P->S at 269: in prostate cancer, MIM: 300068</li><li>P->L at 340: in prostate cancer, MIM: 300068</li><li>P->R at 390: in AIS, MIM: 300068</li><li>P->S at 390: in AIS, MIM: 300068</li><li>Q->R at 443: in AIS; might be a polymorphism, MIM: 300068</li><li>Missing at 465-472, MIM: 300068</li><li>G->S at 491: in AIS, MIM: 300068</li><li>D->G at 528: in prostate cancer, MIM: 300068</li><li>L->F at 547: in PAIS, MIM: 312300</li><li>P->S at 548: in AIS, MIM: 300068</li><li>C->Y at 559: in AIS, MIM: 300068</li><li>G->V at 568: in a patient with isolated hypospadias, MIM: 300068</li><li>G->W at 568: in PAIS, MIM: 312300</li><li>Y->C at 571: in AIS, MIM: 300068</li><li>A->D at 573: in AIS; defective DNA binding and transactivation, MIM: 300068</li><li>L->P at 574: in prostate cancer, MIM: 300068</li><li>T->A at 575: in prostate cancer, MIM: 300068</li><li>C->F at 576: in AIS; lack of DNA binding, MIM: 300068</li><li>C->R at 576: in AIS, MIM: 300068</li><li>C->F at 579: in AIS; reduced transcription and DNA binding, MIM: 300068</li><li>C->Y at 579: in AIS, MIM: 300068</li><li>K->R at 580: in prostate cancer, MIM: 300068</li><li>V->F at 581: in AIS, MIM: 300068</li><li>F->S at 582: in PAIS, MIM: 312300</li><li>F->Y at 582: in PAIS, MIM: 312300</li><li>Missing  at 582: in AIS, MIM: 312300</li><li>R->K at 585: in AIS, MIM: 300068</li><li>A->V at 586: in prostate cancer; somatic mutation, MIM: 300068</li><li>A->S at 587: in prostate cancer; somatic mutation, MIM: 300068</li><li>A->T at 596: in AIS; abolishes dimerization, MIM: 300068</li><li>S->G at 597: in PAIS; high dissociation rate; associated with P-617 in a PAIS patient; partially restores DNA-binding activity of P-617 mutant receptors, MIM: 312300</li><li>S->T at 597: in a patient with severe hypospadias, MIM: 312300</li><li>C->F at 601: in AIS, MIM: 300068</li><li>D->Y at 604: in PAIS, MIM: 312300</li><li>R->Q at 607: in PAIS and breast cancer, MIM: 312300</li><li>R->K at 608: in PAIS and breast cancer; defective nuclear localization, MIM: 312300</li><li>N->T at 610: in PAIS, MIM: 312300</li><li>C->Y at 611: in AIS, MIM: 300068</li><li>R->H at 615: in AIS and PAIS, MIM: 312300</li><li>R->P at 615: in AIS, MIM: 300068</li><li>Missing  at 615: in AIS, MIM: 300068</li><li>L->P at 616: in AIS, MIM: 300068</li><li>L->R at 616: in PAIS, MIM: 312300</li><li>R->P at 617: in AIS and PAIS; loss of DNA-binding activity; associated with G-597 in a PAIS patient, MIM: 312300</li><li>C->Y at 619: in prostate cancer; loss of DNA binding; somatic mutation, MIM: 312300</li><li>R->Q at 629: in prostate cancer, MIM: 312300</li><li>K->T at 630: in prostate cancer, MIM: 312300</li><li>A->D at 645: in dbSNP:rs1800053, MIM: 312300</li><li>S->N at 647: in prostate cancer, MIM: 312300</li><li>I->N at 664: in AIS and PAIS, MIM: 312300</li><li>Q->R at 670: in prostate cancer, MIM: 312300</li><li>P->H at 671: in PAIS, MIM: 312300</li><li>I->T at 672: in prostate cancer, MIM: 312300</li><li>L->P at 677: in AIS, MIM: 300068</li><li>E->K at 681: in AIS, MIM: 300068</li><li>P->T at 682: in PAIS, MIM: 312300</li><li>G->A at 683: in prostate cancer, MIM: 312300</li><li>V->I at 684: in AIS, MIM: 300068</li><li>C->R at 686: in PAIS, MIM: 312300</li><li>A->V at 687: in PAIS, MIM: 312300</li><li>G->E at 688: in AIS, MIM: 300068</li><li>Missing  at 690: in PAIS, MIM: 300068</li><li>Missing  at 692: in AIS, MIM: 300068</li><li>D->H at 695: in AIS, MIM: 300068</li><li>D->N at 695: in AIS; almost complete loss of androgen binding and transcription activation, MIM: 300068</li><li>D->V at 695: in AIS, MIM: 300068</li><li>L->M at 700: in AIS, MIM: 300068</li><li>L->F at 701: in AIS, MIM: 300068</li><ul><li>L->A at 701: Alters receptor specificity, so that transcription is activated by the antiandrogen cyproterone acetate</li></ul><li>L->H at 701: in AIS and prostate cancer, MIM: 300068</li><ul><li>L->A at 701: Alters receptor specificity, so that transcription is activated by the antiandrogen cyproterone acetate</li></ul><li>S->A at 702: in AIS, MIM: 300068</li></ul><li>S->C at 703: in AIS, MIM: 300068</li></ul><li>S->G at 703: in PAIS and AIS, MIM: 312300</li></ul><li>N->S at 705: in AIS, MIM: 300068</li></ul><li>N->Y at 705: in AIS, MIM: 300068</li></ul><li>L->R at 707: in AIS, MIM: 300068</li></ul><li>G->A at 708: in PAIS, MIM: 312300</li></ul><li>G->V at 708: in AIS, MIM: 300068</li></ul><li>R->T at 710: in AIS, MIM: 300068</li></ul><li>Q->E at 711: in PAIS, MIM: 312300</li></ul><li>L->F at 712: in PAIS, MIM: 312300</li></ul><li>V->M at 715: in prostate cancer; gain in function, MIM: 312300</li></ul><li>K->E at 717: in prostate cancer, MIM: 312300</li></ul><li>K->E at 720: in prostate cancer; found in bone metastases, MIM: 312300</li><ul><li>K->A at 720: Loss of transcription activation in the presence of androgen and of interaction with NCOA2</li></ul><li>A->T at 721: in prostate cancer; somatic mutation, MIM: 312300</li></ul><li>L->F at 722: in AIS, MIM: 300068</li></ul><li>P->S at 723: in AIS, MIM: 300068</li></ul><li>G->D at 724: in AIS and prostate cancer, MIM: 300068</li></ul><li>F->L at 725: in a patient with severe hypospadias, MIM: 300068</li></ul><li>R->L at 726: in prostate cancer, MIM: 300068</li></ul><li>N->K at 727: in AIS, MIM: 300068</li></ul><li>L->S at 728: in PAIS, MIM: 312300</li></ul><li>V->M at 730: in prostate cancer; increases transcription activation, MIM: 312300</li></ul><li>D->N at 732: in AIS, MIM: 300068</li></ul><li>D->Y at 732: in AIS, MIM: 300068</li></ul><li>Q->H at 733: in PAIS, MIM: 312300</li></ul><li>I->T at 737: in PAIS, MIM: 312300</li></ul><li>W->R at 741: in AIS, MIM: 300068</li><ul><li>W->L at 741: Strongly decreased transcription activation in the presence of androgen</li></ul><li>M->I at 742: in PAIS, MIM: 312300</li></ul><li>M->V at 742: in PAIS, MIM: 312300</li></ul><li>G->E at 743: in AIS, MIM: 300068</li></ul><li>G->V at 743: in PAIS and AIS, MIM: 312300</li></ul><li>L->F at 744: in AIS and prostate cancer, MIM: 300068</li></ul><li>M->T at 745: in PAIS, MIM: 312300</li></ul><li>V->M at 746: in PAIS, MIM: 312300</li></ul><li>A->D at 748: in PAIS, MIM: 312300</li></ul><li>A->T at 748: in prostate cancer, MIM: 312300</li></ul><li>A->V at 748: in prostate cancer, MIM: 312300</li></ul><li>M->I at 749: in prostate cancer, MIM: 312300</li></ul><li>M->V at 749: in PAIS and AIS, MIM: 312300</li></ul><li>G->D at 750: in AIS; loss of androgen binding, MIM: 300068</li></ul><li>G->S at 750: in prostate cancer, MIM: 300068</li></ul><li>W->R at 751: in AIS, MIM: 300068</li></ul><li>R->Q at 752: in AIS, MIM: 300068</li></ul><li>F->L at 754: in PAIS and prostate cancer, MIM: 312300</li></ul><li>F->V at 754: in AIS, MIM: 300068</li></ul><li>T->A at 755: in prostate cancer, MIM: 300068</li></ul><li>N->S at 756: in PAIS, MIM: 312300</li></ul><li>V->A at 757: in prostate cancer, MIM: 312300</li></ul><li>N->T at 758: in PAIS; 50% reduction in transactivation, MIM: 312300</li></ul><li>S->F at 759: in AIS, MIM: 300068</li></ul><li>S->P at 759: in prostate cancer, MIM: 300068</li></ul><li>L->F at 762: in AIS; loss of androgen binding, MIM: 300068</li></ul><li>Y->C at 763: in PAIS and prostate cancer; partial loss of androgen binding, MIM: 312300</li></ul><li>Y->H at 763: in AIS, MIM: 300068</li></ul><li>F->L at 764: in AIS, MIM: 300068</li></ul><li>A->T at 765: in AIS; loss of androgen binding, MIM: 300068</li></ul><li>A->V at 765: in AIS, MIM: 300068</li></ul><li>P->S at 766: in AIS, MIM: 300068</li></ul><li>D->E at 767: in AIS, MIM: 300068</li></ul><li>L->P at 768: in AIS, MIM: 300068</li></ul><li>N->H at 771: in PAIS, MIM: 312300</li></ul><li>E->A at 772: in PAIS, MIM: 312300</li></ul><li>E->G at 772: in PAIS, MIM: 312300</li></ul><li>R->C at 774: in AIS; loss of androgen binding; frequent mutation, MIM: 300068</li></ul><li>R->H at 774: in AIS and PAIS; almost complete loss of androgen binding, MIM: 312300</li></ul><li>R->W at 779: in AIS, MIM: 300068</li></ul><li>M->I at 780: in PAIS and AIS, MIM: 312300</li></ul><li>S->N at 782: in prostate cancer; somatic mutation, MIM: 312300</li></ul><li>C->Y at 784: in AIS; loss of androgen binding and of transactivation, MIM: 300068</li></ul><li>M->V at 787: in AIS, MIM: 300068</li></ul><li>R->S at 788: in AIS, MIM: 300068</li></ul><li>L->F at 790: in AIS, MIM: 300068</li></ul><li>S->P at 791: in prostate cancer, MIM: 300068</li></ul><li>E->D at 793, MIM: 300068</li></ul><li>F->S at 794: in AIS, MIM: 300068</li></ul><li>Q->E at 798: in PAIS, AIS and prostate cancer; reduced transcription activation, MIM: 312300</li></ul><li>C->Y at 806: in PAIS, MIM: 312300</li></ul><li>M->R at 807: in AIS; loss of transactivation, MIM: 300068</li></ul><li>M->T at 807: in PAIS, MIM: 312300</li></ul><li>M->V at 807: in AIS; 25% androgen binding, MIM: 300068</li></ul><li>L->F at 812: in AIS, MIM: 300068</li></ul><li>S->N at 814: in AIS and PAIS, MIM: 312300</li></ul><li>G->A at 820: in AIS, MIM: 300068</li></ul><li>L->V at 821: in PAIS, MIM: 312300</li></ul><li>F->V at 827: in PAIS, MIM: 312300</li></ul><li>L->P at 830: in prostate cancer, MIM: 312300</li></ul><li>R->L at 831: in AIS, MIM: 300068</li></ul><li>R->Q at 831: in AIS; loss of androgen binding, MIM: 300068</li></ul><li>Y->C at 834: in AIS; loss of androgen binding, MIM: 300068</li></ul><li>R->C at 840: in AIS, MIM: 300068</li></ul><li>R->G at 840: in PAIS, MIM: 312300</li></ul><li>R->H at 840: in AIS: in dbSNP rsrs9332969, MIM: 300068</li></ul><li>R->S at 840: in PAIS, MIM: 312300</li></ul><li>I->S at 841: in PAIS, MIM: 312300</li></ul><li>I->T at 842: in AIS: in dbSNP rsrs9332970, MIM: 300068</li></ul><li>R->G at 846: in prostate cancer, MIM: 300068</li></ul><li>R->K at 854: in PAIS, MIM: 312300</li></ul><li>R->C at 855: in AIS, MIM: 300068</li></ul><li>R->H at 855: in AIS; strongly reduced transcription activation: in dbSNP rsrs9332971, MIM: 300068</li></ul><li>F->L at 856: in AIS, MIM: 300068</li></ul><li>L->R at 863: in AIS, MIM: 300068</li></ul><li>D->G at 864: in AIS, MIM: 300068</li></ul><li>D->N at 864: in AIS; loss of androgen binding, MIM: 300068</li></ul><li>S->P at 865: in AIS, MIM: 300068</li></ul><li>V->E at 866: in AIS, MIM: 300068</li></ul><li>V->L at 866: in PAIS, MIM: 312300</li></ul><li>V->M at 866: in AIS and prostate cancer, MIM: 300068</li></ul><li>I->M at 869: in PAIS, MIM: 312300</li></ul><li>A->G at 870: in PAIS, MIM: 312300</li></ul><li>A->V at 870: in PAIS, MIM: 312300</li></ul><li>R->G at 871: in AIS, MIM: 300068</li></ul><li>H->R at 874: in AIS, MIM: 300068</li></ul><li>H->Y at 874: in prostate cancer; increases affinity for testosterone, androgen sensitivity and transcription activation, MIM: 300068</li></ul><li>T->A at 877: in prostate cancer; alters receptor specificity so that transcription is activated by antiandrogens, such as cyproterone acetate; found in bone metastases, MIM: 300068</li></ul><li>T->S at 877: in prostate cancer, MIM: 300068</li></ul><li>D->Y at 879: in AIS, MIM: 300068</li></ul><li>L->Q at 880: in prostate cancer, MIM: 300068</li></ul><li>L->V at 881: in AIS, MIM: 300068</li></ul><li>M->V at 886: in AIS, MIM: 300068</li></ul><li>V->M at 889: in AIS and PAIS, MIM: 312300</li></ul><li>D->N at 890: in prostate cancer, MIM: 312300</li></ul><li>F->L at 891: in prostate cancer, MIM: 312300</li></ul><li>P->L at 892: in AIS, MIM: 300068</li></ul><li>M->T at 895: in AIS; low androgen binding and transactivation, MIM: 300068</li></ul><li>A->T at 896: in prostate cancer, MIM: 300068</li></ul><li>I->T at 898: in AIS, MIM: 300068</li></ul><li>Q->R at 902: in prostate cancer, MIM: 300068</li></ul><li>V->M at 903: in PAIS, MIM: 312300</li></ul><li>P->H at 904: in AIS, MIM: 300068</li></ul><li>P->S at 904: in AIS, MIM: 300068</li></ul><li>L->F at 907: in AIS; almost complete loss of transcription activation, MIM: 300068</li></ul><li>G->E at 909: in prostate cancer, MIM: 300068</li></ul><li>G->R at 909: in PAIS, MIM: 312300</li></ul><li>K->R at 910: in prostate cancer, MIM: 312300</li></ul><li>V->L at 911: in PAIS, MIM: 312300</li></ul><li>P->S at 913: in PAIS, MIM: 312300</li></ul><li>F->L at 916: in AIS, MIM: 300068</li></ul><li>H->R at 917: in AIS, MIM: 300068</li></ul><li>Q->R at 919: in prostate cancer, MIM: 300068</li></ul>	<li>phosphorylation</li><li>localization</li><li>transcription</li>	<li>GO:0016310</li><li>GO:0051179</li><li>GO:0006350</li>	<li>androgen binding</li><li>DNA binding</li>	<li>GO:0005497</li><li>GO:0003677</li>			<li>P26224</li><li>Q9BEA0</li><li>P22234</li><li>P41239</li><li>Q0VBZ0</li><li>P01132</li><li>Q15596</li><li>P41240</li><li>P01133</li><li>Q95ND4</li><li>Q00968</li><li>P07522</li>	<li>Androgen insensitivity syndrome partial (PAIS) [MIM:312300]</li><li>Androgen insensitivity syndrome (AIS) [MIM:300068]</li>	<li>rs9332970</li><li>rs9332971</li><li>rs9332969</li><li>rs1800053</li>	4
P10415	596	<ul><li>D->A at 34: Abolishes cleavage by caspase-3</li><li>D->A at 64: No effect on cleavage by caspase-3</li><li>G->A at 145: No heterodimerization with BAX and loss of anti-apoptotic activity</li><li>W->A at 188: No heterodimerization with BAX and loss of anti-apoptotic activity</li></ul>	<li>T->S at 7</li><li>A->T at 43: in dbSNP:rs1800477</li><li>P->S at 59: in non-Hodgkin lymphoma; somatic mutation</li><li>V->I at 93: in non-Hodgkin lymphoma; somatic mutation</li>							<li>Q07815</li><li>Q07812</li><li>Q07814</li><li>O02703</li><li>P55269</li>		rs1800477	3
P10586	5792	<ul><li>C->S at 1548: Loss of activity</li></ul>	<li>A->V at 412: in dbSNP:rs1065775</li><li>Y->C at 450: in dbSNP:rs3748796</li><li>D->N at 562: in dbSNP:rs3748800</li>									<li>rs3748796</li><li>rs3748800</li><li>rs1065775</li>	3
P10619	5476	<ul><li>S->A at 178: Inactivates the enzyme</li><li>H->Q at 457: Inactivates the enzyme</li></ul>	<li>Q->R at 49: in galactosialidosis, MIM: 256540</li><li>W->R at 65: in galactosialidosis, MIM: 256540</li><li>S->L at 90: in galactosialidosis, MIM: 256540</li><li>Y->N at 249: in galactosialidosis; small amount of activity, MIM: 256540</li><li>Y->C at 395: in galactosialidosis; loss of activity, MIM: 256540</li><li>F->V at 440: in galactosialidosis, MIM: 256540</li>								Galactosialidosis [MIM:256540]		3
P10636	4137	<ul><li>S->E at 515: No association with plasma membrane</li><li>S->E at 516: No association with plasma membrane</li><li>S->E at 519: No association with plasma membrane</li><li>S->A at 531: No decrease in microtubule-binding and nucleation activity after in vitro phosphorylation of mutant protein</li><li>T->A at 548: 50% Decrease in microtubule-binding after in vitro phosphorylation of mutant protein</li><li>T->E at 548: No association with plasma membrane</li><li>S->A at 552: 70% decrease in microtubule-binding after in vitro phosphorylation of mutant protein</li><li>S->E at 552: No association with plasma membrane</li><li>S->A at 579: 8% decrease in microtubule-binding after in vitro phosphorylation of mutant protein</li><li>S->E at 713: No association with plasma membrane</li><li>S->E at 721: No association with plasma membrane</li><li>S->E at 726: No association with plasma membrane</li><li>S->E at 730: No association with plasma membrane</li><li>S->E at 739: No association with plasma membrane</li></ul>	<li>R->H at 5: in FTDP17; reduces the ability of tau to promote microtubule assembly and promotes fibril formation in vitro, MIM: 600274</li><li>R->L at 5: in PSP; delays assembly initiation and lowers the mass of microtubules formed; but the assembly rate is increased compared to normal tau, MIM: 601104</li><li>D->N at 285: risk factor for progressive supranuclear palsy, MIM: 601104</li><li>V->A at 289: risk factor for progressive supranuclear palsy, MIM: 601104</li><li>H->Y at 441: in dbSNP rsrs2258689, MIM: 601104</li><li>S->P at 447: in dbSNP rsrs10445337, MIM: 601104</li><li>K->T at 574: in dementia; a dementia resembling Pick disease; reduces the ability to promote microtubule assembly by 70%, MIM: 601104</li><li>L->V at 583: in FTDP17; less able to promote microtubule assembly than wild-type tau, MIM: 600274</li><li>G->V at 589: in FTDP17, MIM: 600274</li><li>N->K at 596: in PPND, MIM: 168610</li><li>Missing  at 597: in FTDP17, MIM: 168610</li><li>N->H at 613: in FTDP17; reduced the ability of tau to promote microtubule assembly without having a significant effect on tau filament formation; effects at both the RNA and the protein level, MIM: 600274</li><li>Missing  at 613: in PSP/atypical PSP; heterozygosity may be a risk factor for both a PSP-like syndrome and Parkinson disease; reduced the ability of tau to promote microtubule assembly without having a significant effect on tau filament formation; effects at both the RNA and the protein level, MIM: 600274</li><li>P->L at 618: in FTDP17; most common mutation; reduction in the ability to promote microtubule assembly; accelerates aggregation of tau into filaments, MIM: 600274</li><li>P->S at 618: in FTDP17 and CBD; reduction in the ability to promote microtubule assembly, MIM: 600274</li><li>G->V at 620: in PSP, MIM: 601104</li><li>S->N at 622: in FTDP17; minimal parkinsonism; very early age of onset, MIM: 600274</li><li>K->M at 634: in FTDP17, MIM: 600274</li><li>S->F at 637: in Pick disease; markedly reduced ability of tau to promote microtubule assembly, MIM: 600274</li><li>V->M at 654: in FTDP17; ultrastructural and biochemical characteristics indistinguishable from Alzheimer disease; accelerates aggregation of tau into filaments, MIM: 600274</li><li>E->V at 659: in FTDP17, MIM: 600274</li><li>S->L at 669: in fatal respiratory hypoventilation; unusual apparent autosomal recessive inheritance; reduced binding to microtubules as well as increased fibrillization and aggregation, MIM: 600274</li><li>K->I at 686: in Pick disease; 90% reduction in the rate of microtubule assembly, MIM: 600274</li><li>G->R at 706: in dementia; a dementia resembling Pick disease; in vitro the mutation reduces the ability of tau to promote microtubule assembly by 25 to 30%, MIM: 600274</li><li>R->W at 723: in FTDP17/Alzheimer disease; accelerates aggregation of tau into filaments; reduces tau phosphorylation in cells compared to both the wild-type and other mutant forms, MIM: 600274</li>	phosphorylation	GO:0016310	<li>microtubule-binding</li><li>binding</li>	<li>GO:0008017</li><li>GO:0005488</li>	<li>plasma membrane</li><li>microtubule</li>	<li>GO:0005886</li><li>GO:0005874</li>	<li>P43137</li><li>Q99LS3</li><li>P19332</li><li>Q63471</li><li>P44997</li><li>P23132</li><li>P01359</li><li>P07743</li><li>O60542</li><li>O28142</li><li>P05451</li><li>Q5RB83</li><li>O74382</li><li>O82796</li><li>P83145</li><li>O00186</li><li>P10637</li><li>P42941</li><li>P0AGB1</li><li>P0AGB0</li><li>Q58989</li><li>P0AGB2</li><li>Q5M819</li><li>Q2KHU0</li><li>P16525</li><li>Q08731</li><li>O70300</li><li>O70301</li><li>P52758</li><li>P58384</li><li>Q9VSY6</li><li>P10758</li><li>Q96DR5</li><li>P78330</li>	<li>Pallido-ponto-nigral degeneration (PPND) [MIM:168610]</li><li>Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP17) [MIM:600274, 172700]</li><li>Progressive supranuclear palsy (PSP) [MIM:601104, 260540]</li>	<li>rs2258689</li><li>rs10445337</li>	3
P10646	7035	<ul><li>K->I at 64: Abolishes inhibition of VII(a)/TF</li><li>R->L at 135: Abolishes inhibition of X(a)</li><li>R->L at 227: Abolishes inhibition of VII(a)/TF</li></ul>	<li>V->M at 292: in dbSNP:rs5940</li>									rs5940	3
P10721	3815	<ul><li>I->A at 571: Reduction in APS binding. Abolishes APS binding; when associated with A-939</li><li>K->M at 623: Stronger interaction with MPDZ</li><li>L->A at 939: Reduction in APS binding. Abolishes APS binding; when associated with A-571</li></ul>	<li>V->I at 532: in dbSNP rsrs55792975</li><li>M->L at 541: in dbSNP rsrs3822214</li><li>Missing  at 550-558: in GIST; somatic mutation</li><li>K->I at 550: in GIST; somatic mutation: in dbSNP rsrs28933968, MIM: 606764</li><li>Missing  at 551-555: in GIST; somatic mutation, MIM: 606764</li><li>Missing  at 559-560: in GIST; somatic mutation, MIM: 606764</li><li>V->A at 559: in GIST, MIM: 606764</li><li>V->D at 559: in GIST; somatic mutation, MIM: 606764</li><li>Missing  at 559: in GIST, MIM: 606764</li><li>E->K at 583: in piebaldism, MIM: 172800</li><li>F->C at 584: in piebaldism: in dbSNP rsrs28933371, MIM: 172800</li><li>F->L at 584: in piebaldism, MIM: 172800</li><li>G->R at 601: in piebaldism, MIM: 172800</li><li>L->P at 656: in piebaldism, MIM: 172800</li><li>G->R at 664: in piebaldism, MIM: 172800</li><li>C->S at 691: in dbSNP rsrs35200131, MIM: 172800</li><li>S->N at 715: in dbSNP rsrs56094246, MIM: 172800</li><li>D->N at 737: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 172800</li><li>R->G at 791: in piebaldism, MIM: 172800</li><li>R->G at 796: in piebaldism; with sensorineural deafness, MIM: 172800</li><li>R->W at 804: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 172800</li><li>G->V at 812: in piebaldism, MIM: 172800</li><li>D->F at 816: in mastocytosis; requires 2 nucleotide substitutions; somatic mutation; constitutively activated, MIM: 172800</li><li>D->H at 816: in GCT; somatic mutation; constitutively activated: in dbSNP rsrs28933969, MIM: 172800</li><li>D->V at 816: in mast cell leukemia and mastocytosis; somatic mutation; constitutively activated; loss of interaction with MPDZ, MIM: 172800</li><li>D->Y at 816: in acute myeloid leukemia, mastocytosis and TGCT; somatic mutation; constitutively activated, MIM: 172800</li><li>D->G at 820: in mast cell disease; systemic, MIM: 172800</li><li>N->K at 822: in TGCT; somatic mutation, MIM: 172800</li><li>A->P at 829: in TGCT; somatic mutation, MIM: 172800</li><li>E->K at 839: in mastocytosis; somatic mutation; dominant negative mutation; loss of autophosphorylation, MIM: 172800</li><li>T->P at 847: in piebaldism, MIM: 172800</li><li>Missing  at 893-896: in piebaldism; severe, MIM: 172800</li>	autophosphorylation	GO:0046777	binding	GO:0005488			<li>P33619</li><li>Q6DT45</li><li>O14492</li><li>P04802</li><li>P22325</li><li>P07288</li><li>P55228</li><li>P27623</li><li>Q8RKI6</li><li>O75970</li><li>Q12650</li>	<li>Gastrointestinal stromal tumor (GIST) [MIM:606764]</li><li>Piebaldism [MIM:172800]</li>	<li>rs28933968</li><li>rs3822214</li><li>rs28933969</li><li>rs55792975</li><li>rs35200131</li><li>rs28933371</li><li>rs56094246</li>	3
P10911	4168	<ul><li>LLLKELL->IIIRDI at 640-646: Transformation capability reduced; no stimulation of GDP dissociation</li></ul>											1
P10912	2690	<ul><li>E->A at 260: No change in shedding activity</li><li>E->A at 261: No change in shedding activity</li><li>D->A at 262: No change in shedding activity</li></ul>	<li>C->S at 56: in Laron dwarfism, MIM: 262500</li><li>S->L at 58: in Laron dwarfism, MIM: 262500</li><li>E->K at 62: in short stature; idiopathic autosomal, MIM: 604271</li><li>W->R at 68: in Laron dwarfism, MIM: 262500</li><li>R->K at 89: in Laron dwarfism, MIM: 262500</li><li>F->S at 114: in Laron dwarfism; loss of ability to bind ligand, MIM: 262500</li><li>V->A at 143: in Laron dwarfism, MIM: 262500</li><li>P->Q at 149: in Laron dwarfism; disrupts GH binding, MIM: 262500</li><li>V->D at 162: in Laron dwarfism, MIM: 262500</li><li>V->F at 162: in dbSNP:rs6413484, MIM: 262500</li><li>V->I at 162: in short stature; idiopathic autosomal, MIM: 604271</li><li>D->H at 170: in Laron dwarfism; abolishes receptor homodimerization, MIM: 262500</li><li>I->T at 171: in Laron dwarfism; almost completely abolishes GH-binding at cell surface: 53% binding to membrane fractions, MIM: 262500</li><li>Q->P at 172: in Laron dwarfism; almost completely abolishes GH-binding at cell surface and in membrane fractions, MIM: 262500</li><li>V->G at 173: in Laron dwarfism; almost completely abolishes GH-binding at cell surface: 26% binding to membrane fractions, MIM: 262500</li><li>R->C at 179: in Laron dwarfism and short stature; idiopathic autosomal, MIM: 604271</li><li>R->H at 179: in dbSNP:rs6181, MIM: 604271</li><li>Y->C at 226: in Laron dwarfism, MIM: 262500</li><li>R->G at 229: in Laron dwarfism, MIM: 262500</li><li>R->H at 229: in short stature; idiopathic autosomal; dbSNP:rs6177, MIM: 604271</li><li>E->D at 242: in short stature; idiopathic autosomal: in dbSNP rsrs45588036, MIM: 604271</li><li>S->I at 244: in Laron dwarfism, MIM: 262500</li><li>D->N at 262: in Laron dwarfism, MIM: 262500</li><ul><li>D->A at 262: No change in shedding activity</li></ul><li>C->F at 440: in Laron dwarfism; dbSNP:rs6182, MIM: 262500</li></ul><li>E->K at 465: in dbSNP:rs34283856, MIM: 262500</li></ul><li>P->T at 495: in dbSNP:rs6183, MIM: 262500</li></ul><li>I->L at 544: polymorphism with a modifier effect on plasma HDL cholesterol levels in familial hypercholesterolemia patients; dbSNP:rs6180, MIM: 262500</li></ul><li>P->T at 579: in dbSNP:rs6184, MIM: 262500</li></ul>			binding	GO:0005488	<li>membrane fractions</li><li>cell surface</li>	<li>GO:0005624</li><li>GO:0009928,GO:0009986</li>		<li>Short stature [MIM:604271]</li><li>Laron dwarfism [MIM:262500]</li>	<li>rs6184</li><li>rs45588036</li><li>rs6177</li><li>rs6413484</li><li>rs34283856</li><li>rs6181</li><li>rs6180</li><li>rs6183</li><li>rs6182</li>	4
P11086	5409	<ul><li>Y->F at 35: Strongly increases KM for substrate and S-adenosyl-L-methionine</li><li>E->A,Q at 185: Strongly reduced enzyme activity. Increases affinity for S-adenosyl-L-methionine</li><li>E->D at 185: Strongly reduced enzyme activity. Decreases affinity for substrate and S-adenosyl-L-methionine 3-fold</li><li>E->A at 219: Reduced enzyme activity. Decreases affinity for substrate 6-fold. Decreases affinity for S-adenosyl-L-methionine 2-fold</li><li>D->A,N at 267: Strongly reduced enzyme activity. Decreases affinity for substrate 200-fold. Decreases affinity for S-adenosyl-L-methionine 3-fold</li></ul>	<li>N->S at 9: in dbSNP:rs11569781</li><li>T->A at 98: lower activity levels than wild-type; dbSNP:rs36060376</li><li>R->C at 112: in dbSNP:rs34530498</li><li>A->T at 175: in dbSNP:rs34341496</li><li>S->C at 188: in dbSNP:rs5639</li><li>L->H at 211: in dbSNP:rs5640</li><li>L->Q at 217: in dbSNP:rs5641</li><li>R->H at 254: in dbSNP:rs5642</li><li>W->R at 276: in dbSNP:rs5643</li>									<li>rs5641</li><li>rs5640</li><li>rs5639</li><li>rs34341496</li><li>rs36060376</li><li>rs5642</li><li>rs5643</li><li>rs34530498</li><li>rs11569781</li>	3
P11161	1959	<ul><li>DHLY->AAAA at 162-165: Inhibits association with HCFC1</li></ul>	<li>I->N at 268: in CHN, MIM: 605253</li><li>D->V at 355: in CMT1D, MIM: 607678</li><li>R->W at 359: in DSS and CMT1D; associated with A-136 in the GJB1 gene in a DSS Korean girl, MIM: 145900</li><li>R->C at 381: in CMT1D, MIM: 607678</li><li>R->H at 381: in CMT1D, MIM: 607678</li><li>SD->RY at 382-383: in CHN, MIM: 607678</li><li>D->Y at 383: in CMT1D, MIM: 607678</li><li>R->W at 409: in CMT1D, MIM: 607678</li>							<li>P15882</li><li>Q60HF7</li><li>O18968</li><li>P08034</li><li>Q17QN0</li><li>Q6WGK6</li><li>Q92570</li><li>P51611</li><li>P51610</li>	<li>Dejerine-Sottas syndrome (DSS) [MIM:145900]</li><li>Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678]</li><li>Congenital hypomyelination neuropathy (CHN) [MIM:605253]</li>		3
P11171	2035	<ul><li>T->A at 60: Loss of CDC2-mediated phosphorylation. Abolishes targeting onto the mitotic spindle; when associated with A-712</li><li>S->A at 712: Loss of CDC2-mediated phosphorylation. Abolishes targeting onto the mitotic spindle; when associated with A-60</li></ul>	<li>V->I at 214</li>	phosphorylation	GO:0016310			spindle	GO:0005819	<li>Q9W739</li><li>Q9DGA2</li><li>Q9DGA5</li><li>P19026</li><li>Q5RCH1</li><li>Q9DG98</li><li>P06493</li><li>P48734</li><li>P43290</li><li>P23111</li><li>P13863</li><li>Q04770</li><li>P52389</li><li>P15436</li><li>P24100</li><li>P51958</li><li>P54119</li><li>Q41639</li><li>P93101</li><li>Q9DGD3</li>			3
P11172	7372	<ul><li>D->N at 312: Loss of OMPdecase activity</li></ul>	<li>S->G at 30: in dbSNP:rs17843776</li><li>R->G at 96: in HOA, MIM: 258900</li><li>V->G at 109: in HOA, MIM: 258900</li><li>G->A at 213: in dbSNP:rs1801019, MIM: 258900</li><li>G->R at 429: in HOA, MIM: 258900</li><li>I->V at 446: in dbSNP:rs3772809, MIM: 258900</li>							<li>P77888</li><li>Q2YXG4</li><li>Q482F9</li><li>Q5J2D0</li><li>Q4UNV9</li><li>P14017</li><li>O58462</li><li>P41769</li><li>O94127</li><li>Q3AZD9</li><li>Q5WFJ5</li><li>P13649</li><li>Q8YE79</li><li>P78748</li><li>Q66AI1</li><li>Q9UZ35</li><li>P09556</li><li>P07922</li><li>Q4VWW3</li><li>Q9C150</li><li>Q8K7V3</li><li>Q834E3</li><li>Q6GHN1</li><li>Q9ZHA7</li><li>Q96WP7</li><li>Q42942</li><li>Q2J838</li><li>Q9EYV3</li><li>Q9HFN9</li><li>Q06375</li><li>Q9LCT0</li><li>Q5PB36</li><li>Q71HN5</li><li>Q6LZM2</li><li>P57358</li><li>Q6F9Z3</li><li>Q9RSC5</li><li>Q12595</li><li>P46535</li><li>Q57700</li><li>Q2RNS7</li><li>Q5QZ42</li><li>Q6A911</li><li>Q5F9J2</li><li>P50924</li><li>P31754</li><li>Q8XL62</li><li>Q2SCG0</li><li>Q6D5T3</li><li>Q8PV88</li><li>Q9C131</li><li>Q5L0U0</li><li>Q3YSH4</li><li>Q7VLR5</li><li>Q97FS5</li><li>P07817</li><li>P24220</li><li>Q9KXR8</li><li>Q2NHA5</li><li>Q2LQ82</li><li>Q2J316</li><li>Q9ABW5</li><li>P51019</li><li>P51017</li><li>P51018</li><li>Q57NV3</li><li>P51015</li><li>Q9C1J2</li><li>P51016</li><li>Q8J269</li><li>P51014</li><li>Q9KQT7</li><li>O93864</li><li>Q8P1C0</li><li>Q9UX10</li><li>Q5E3Z6</li><li>Q74J28</li><li>O08323</li><li>Q2FHN4</li><li>Q636E3</li><li>Q2JTW6</li><li>Q8NQ40</li><li>P10652</li><li>Q97CS3</li><li>Q3Z131</li><li>P51020</li><li>Q2W019</li><li>Q8D8J6</li><li>Q46GE2</li><li>Q38X21</li><li>Q87N49</li><li>Q72DM8</li><li>Q71YI4</li><li>Q884R0</li><li>Q46JD8</li><li>Q9P8X9</li><li>P56155</li><li>Q9A077</li><li>Q732I6</li><li>Q9WYG7</li><li>Q9CMM1</li><li>Q5FJB3</li><li>Q2GG43</li><li>O29333</li><li>Q6IUR4</li><li>Q977X5</li><li>P33283</li><li>Q3IY00</li><li>Q8U1U1</li><li>Q8ER36</li><li>O26232</li><li>Q2JPF1</li><li>P79075</li><li>Q5GRJ9</li><li>Q3MEN8</li><li>Q819S6</li><li>Q2P8Z6</li><li>Q8K9Q1</li><li>Q2KDF0</li><li>Q3BMA4</li><li>P65596</li><li>P65595</li><li>Q6HET1</li><li>Q9ZN53</li><li>Q9HF68</li><li>Q6GA09</li><li>Q9Y9D9</li><li>Q5R514</li><li>Q3J8N5</li><li>Q7MAE8</li><li>Q31ZX5</li><li>P43230</li><li>Q9Y720</li><li>P25971</li><li>Q92AH6</li><li>Q9Y726</li><li>Q83E06</li><li>Q01378</li><li>P05035</li><li>Q8FXW9</li><li>Q7V0D8</li><li>Q31GC7</li><li>Q3AHU2</li><li>Q8DZQ2</li><li>Q48U10</li><li>P07691</li><li>Q9CFW9</li><li>Q5XCK8</li><li>Q7U8P3</li><li>Q7N4C1</li><li>Q65SI1</li><li>Q9HFX0</li><li>Q5JDB0</li><li>Q5M4I0</li><li>Q9CCR1</li><li>Q12724</li><li>Q1E9A1</li><li>Q7V5Y2</li><li>P48844</li><li>Q42586</li><li>Q757S1</li><li>Q609Y2</li><li>Q21IS8</li><li>Q31K20</li><li>Q3SRG9</li><li>Q39VY5</li><li>Q2NT36</li><li>P78724</li><li>Q5HGM8</li><li>Q4QJV1</li><li>Q5ZVL5</li><li>P96076</li><li>Q01637</li><li>Q4FRL9</li><li>Q4ZVD9</li><li>Q6NCY0</li><li>O42771</li><li>Q5HW86</li><li>Q9JV18</li><li>Q49WY5</li><li>Q2YQU9</li><li>Q8P3D7</li><li>Q8YSY4</li><li>P08244</li><li>Q5N1T9</li><li>Q57AD4</li><li>P58883</li><li>Q8PER4</li><li>Q25566</li><li>Q65JU4</li><li>Q47R19</li><li>Q89AL6</li><li>Q9P9M3</li><li>Q4L5Q6</li><li>Q12709</li><li>Q9HFV8</li><li>Q7Z8L4</li><li>Q3K8H1</li><li>Q9K9W2</li><li>Q3SK77</li><li>P15188</li><li>Q88LW2</li><li>Q8FHU2</li><li>Q74D58</li><li>Q4KFV3</li><li>O13416</li><li>Q7MLX2</li><li>Q6BY69</li><li>Q1QA56</li><li>Q8DTV1</li><li>P09463</li><li>Q32GQ2</li><li>P11172</li><li>O13410</li><li>Q82TD8</li><li>Q8FT43</li><li>P0A5M6</li><li>P0A5M7</li><li>Q8EUY3</li><li>Q81WF5</li><li>Q5WWS3</li><li>P03962</li><li>Q87FA3</li><li>Q2RK39</li><li>P43812</li><li>Q8E5F0</li><li>Q9PHB0</li><li>O67520</li><li>Q2IGK0</li><li>Q5LZW9</li><li>Q319F9</li><li>Q5X5E0</li><li>Q5FNS8</li><li>Q83RM1</li><li>Q8D2J1</li><li>P32431</li><li>Q8EXA4</li><li>P32430</li><li>Q7VAP8</li><li>Q8DLT3</li><li>Q28K56</li><li>Q7UIA4</li><li>Q3IGA7</li><li>Q8CPJ3</li><li>Q21CH8</li><li>Q3K145</li><li>Q3A6R4</li><li>P58643</li><li>Q2Y7B1</li><li>P58644</li><li>P58641</li><li>P58642</li><li>Q2G8S2</li><li>Q44843</li><li>Q8RG83</li><li>P13439</li><li>Q9K005</li><li>P49434</li><li>Q8DQL6</li><li>Q59654</li><li>Q30XT2</li><li>Q48KP5</li><li>Q8J0E6</li><li>Q3AC06</li><li>Q7NTL2</li><li>Q98DD5</li><li>Q9UVZ5</li><li>P58638</li><li>Q5PD06</li><li>P58639</li><li>P21593</li><li>P21594</li><li>Q8TS37</li><li>Q92SN8</li><li>Q7NK22</li><li>O74110</li><li>Q8EEI4</li><li>Q970X0</li><li>Q5HPY7</li><li>Q6LPE7</li><li>P73761</li><li>Q12604</li><li>Q30QK7</li><li>P14964</li><li>Q5H6B9</li><li>P14965</li><li>Q5LND3</li><li>Q9PIC1</li><li>P58640</li><li>Q51983</li><li>P99145</li>	Hereditary orotic aciduria (HOA) [MIM:258900]	<li>rs3772809</li><li>rs1801019</li><li>rs17843776</li>	3
P11233	5898	<ul><li>K->E at 47: Strongly reduces interaction with EXOC8</li><li>K->I at 47: No effect on interaction with EXOC8</li><li>A->W at 48: Strongly reduces interaction with EXOC8</li><li>S->W at 50: Strongly reduces interaction with EXOC8</li><li>R->A at 52: Strongly reduces interaction with EXOC8</li><li>R->W at 52: No effect on interaction with EXOC8</li><li>N->A at 81: No effect on interaction with EXOC8</li><li>N->R at 81: Strongly reduces interaction with EXOC8</li></ul>								<li>Q8IYI6</li><li>Q5ZJ43</li>			1
P11274	613	<ul><li>Missing at 1269-1271: Abolishes interaction with PDZK1</li><li>V->A at 1271: Reduces interaction with PDZK1</li></ul>	<li>S->P at 400: in a bladder transitional cell carcinoma sample; somatic mutation</li><li>I->M at 413: in dbSNP rsrs56321828</li><li>K->T at 558: in dbSNP:rs4437065</li><li>D->E at 752: in dbSNP rsrs12484731</li><li>N->S at 796: in dbSNP:rs140504</li><li>Y->C at 910: in dbSNP rsrs35537221</li><li>V->I at 949: in dbSNP rsrs2229038</li><li>E->K at 1037: in dbSNP:rs16999516</li><li>V->M at 1091</li><li>T->A at 1096</li><li>A->G at 1104</li><li>D->N at 1106</li><li>T->M at 1127: in dbSNP:rs35812689</li><li>A->T at 1149</li><li>E->K at 1161</li><li>K->E at 1187</li><li>V->M at 1189: in dbSNP rsrs55816482</li><li>A->G at 1204: in dbSNP rsrs56265970</li><li>W->R at 1235: in dbSNP rsrs55719322</li>							<li>Q5T2W1</li><li>Q3T0X8</li><li>Q865P3</li><li>Q5RCF7</li>		<li>rs16999516</li><li>rs2229038</li><li>rs140504</li><li>rs4437065</li><li>rs35812689</li><li>rs55719322</li><li>rs55816482</li><li>rs12484731</li><li>rs35537221</li><li>rs56265970</li><li>rs56321828</li>	3
P11310	34	<ul><li>L->M at 86: Strongly reduced rate of electron transfer to ETF</li><li>L->W at 98: Strongly reduced rate of electron transfer to ETF</li><li>L->Y at 100: Strongly reduced rate of electron transfer to ETF</li><li>I->M at 108: Strongly reduced rate of electron transfer to ETF</li><li>W->A at 191: Loss of electron transfer to ETF</li><li>W->F at 191: Reduces rate of electron transfer to ETF about six-fold</li><li>E->A at 237: Strongly reduced rate of electron transfer to ETF</li><li>E->A at 384: Reduces rate of electron transfer to ETF three-fold</li><li>E->Q at 384: Reduces rate of electron transfer to ETF two-fold</li></ul>	<li>R->C at 53: in MCAD deficiency, MIM: 201450</li><li>Y->H at 67: in MCAD deficiency; mild, MIM: 201450</li><li>I->T at 78: in MCAD deficiency, MIM: 201450</li><li>Missing  at 115-116: in MCAD deficiency, MIM: 201450</li><li>C->Y at 116: in MCAD deficiency, MIM: 201450</li><li>T->I at 121: in MCAD deficiency, MIM: 201450</li><li>P->R at 132: in a breast cancer sample; somatic mutation, MIM: 201450</li><li>M->I at 149: in MCAD deficiency, MIM: 201450</li><li>T->A at 193: in MCAD deficiency; the thermostability is markedly decreased, MIM: 201450</li><li>G->R at 195: in MCAD deficiency, MIM: 201450</li><li>R->L at 206: in MCAD deficiency, MIM: 201450</li><li>C->R at 244: in MCAD deficiency, MIM: 201450</li><li>S->L at 245: in MCAD deficiency, MIM: 201450</li><li>G->R at 267: in MCAD deficiency, MIM: 201450</li><li>R->T at 281: in MCAD deficiency; mild or benign clinical phenotype, MIM: 201450</li><li>G->R at 310: in MCAD deficiency, MIM: 201450</li><li>M->T at 326: in MCAD deficiency, MIM: 201450</li><li>K->E at 329: in MCAD deficiency; most common variant, MIM: 201450</li><li>S->R at 336: in MCAD deficiency, MIM: 201450</li><li>Y->C at 352: in MCAD deficiency, MIM: 201450</li><li>I->T at 375: in MCAD deficiency, MIM: 201450</li>	electron transfer	GO:0006118					<li>Q8HXY8</li><li>P45952</li><li>P11310</li><li>Q9VSA3</li><li>Q22347</li><li>P48301</li><li>P41367</li><li>P08503</li>	Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) [MIM:201450]		3
P11362	2260	<ul><li>Y->F at 766: Fails to interact with PLC-gamma and SHB</li></ul>	<li>R->S at 22: in dbSNP:rs17175750</li><li>G->S at 48: in IHH, MIM: 146110</li><li>N->K at 77, MIM: 146110</li><li>R->C at 78: in KAL2, MIM: 147950</li><li>G->D at 97: in KAL2, MIM: 147950</li><li>Y->C at 99: in KAL2, MIM: 147950</li><li>C->F at 101: in KAL2, MIM: 147950</li><li>V->I at 102: in KAL2: in dbSNP rsrs55642501, MIM: 147950</li><li>S->L at 125: in a breast infiltrating ductal carcinoma sample; somatic mutation, MIM: 147950</li><li>D->A at 129: in KAL2, MIM: 147950</li><li>A->S at 167: in KAL2; with cleft palate, corpus callosum agenesis, unilateral deafness and fusion of fourth and fifth metacarpal bones, MIM: 147950</li><li>C->S at 178: in KAL2; with severe ear anomalies, MIM: 147950</li><li>W->G at 213: in dbSNP:rs17851623, MIM: 147950</li><li>D->H at 224: in KAL2, MIM: 147950</li><li>G->D at 237: in KAL2, MIM: 147950</li><li>G->S at 237: in IHH/KAL2; also found in a family member with isolated anosmia; may impair proper folding, MIM: 147950</li><li>L->P at 245: in KAL2, MIM: 147950</li><li>R->W at 250: in KAL2, MIM: 147950</li><li>P->R at 252: in PS; seems to be a gain of function, MIM: 101600</li><li>P->T at 252: in a lung bronchoalveolar carcinoma sample; somatic mutation, MIM: 101600</li><li>R->Q at 254: in KAL2, MIM: 147950</li><li>G->D at 270: in KAL2, MIM: 147950</li><li>V->M at 273: in KAL2, MIM: 147950</li><li>E->G at 274: in KAL2; also found in a family member with isolated anosmia, MIM: 147950</li><li>C->Y at 277: in KAL2, MIM: 147950</li><li>P->R at 283: in KAL2, MIM: 147950</li><li>I->T at 300: in non-syndromic trigonocephaly, MIM: 190440</li><li>N->I at 330: in OGD, MIM: 166250</li><li>S->C at 332: in KAL2, MIM: 147950</li><li>Y->C at 339: in KAL2, MIM: 147950</li><li>A->V at 343: in KAL2, MIM: 147950</li><li>S->C at 346: in KAL2; also found in a family member with isolated anosmia, MIM: 147950</li><li>P->L at 366: in IHH/KAL2, MIM: 147950</li><li>Y->C at 374: in OGD; elevated basal activity and increased FGF2-mediated activity, MIM: 166250</li><li>C->R at 381: in OGD, MIM: 166250</li><li>A->T at 520: in KAL2, MIM: 147950</li><li>I->V at 538: in KAL2, MIM: 147950</li><li>V->M at 607: in KAL2; with bimanual synkinesis, MIM: 147950</li><li>H->R at 621: in KAL2, MIM: 147950</li><li>R->G at 622: in KAL2; with severe ear anomalies, MIM: 147950</li><li>R->Q at 622: in KAL2, MIM: 147950</li><li>V->L at 664: in a lung large cell carcinoma sample; somatic mutation, MIM: 147950</li><li>W->R at 666: in KAL2; with cleft palate, MIM: 147950</li><li>S->F at 685: in KAL2, MIM: 147950</li><li>G->R at 687: in KAL2, MIM: 147950</li><li>I->F at 693: in KAL2, MIM: 147950</li><li>G->R at 703: in KAL2, MIM: 147950</li><li>G->S at 703: in KAL2, MIM: 147950</li><li>M->R at 719: in KAL2, MIM: 147950</li><li>P->H at 722: in IHH; associated with K-724; also found in a family member with isolated anosmia; reduced tyrosine kinase activity, MIM: 146110</li><li>P->S at 722: in KAL2, MIM: 147950</li><li>N->K at 724: in IHH; associated with H-722; also found in a family member with isolated anosmia; reduced tyrosine kinase activity, MIM: 146110</li><li>P->S at 745: in KAL2, MIM: 147950</li><li>L->V at 769: in dbSNP:rs2956723, MIM: 147950</li><li>P->S at 772: in KAL2; with cleft palate, unilateral absence of nasal cartilage, iris coloboma: in dbSNP rsrs56234888, MIM: 147950</li><li>V->I at 795: in KAL2; also found in a family member with isolated anosmia, MIM: 147950</li><li>G->R at 818: in dbSNP:rs17182456, MIM: 147950</li><li>R->C at 822: in dbSNP:rs17182463, MIM: 147950</li>			kinase activity	GO:0016301			<li>Q98938</li><li>P79860</li><li>Q15464</li><li>P79871</li><li>Q14623</li><li>P79866</li><li>O13220</li><li>O13240</li><li>P79852</li><li>Q60487</li><li>P20003</li><li>P09038</li><li>O13215</li><li>P79719</li><li>O13243</li><li>P48798</li><li>P48800</li><li>P48799</li><li>P97812</li><li>P79711</li><li>P03969</li><li>Q91612</li><li>P79693</li>	<li>Kallmann syndrome type 2 (KAL2) [MIM:147950]</li><li>Osteoglophonic dysplasia (OGD) [MIM:166250]</li><li>Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]</li><li>Non-syndromic trigonocephaly [MIM:190440]</li><li>Pfeiffer syndrome (PS) [MIM:101600]</li>	<li>rs17182456</li><li>rs17175750</li><li>rs17182463</li><li>rs2956723</li><li>rs55642501</li><li>rs17851623</li><li>rs56234888</li>	3
P11387	7150	<ul><li>K->R at 103: Localizes in both nucleoplasm and nucleoli; when associated with R-117 or R-153. Almost complete loss of sumoylation, concentrates in nucleoli and no clearing from nucleoli on CPT treatment; when associated with R-117 and R-153</li><li>K->R at 117: 5-fold decrease in sumoylation. Localizes in both nucleoplasm and nucleoli; when associated with or without R-103 or R-153. Almost complete loss of sumoylation, concentrates in nucleoli and no clearing from nucleoli on CPT treatment; when associated with R-103 and R-153</li><li>K->R at 153: Localizes in both nucleoplasm and nucleoli; when associated with R-103 or R-117. Almost complete loss of sumoylation, concentrates in nucleoli and no clearing from nucleoli on CPT treatment; when associated with R-103 and R-117</li><li>Y->F at 723: No change in CPT-induced clearing from nuclei</li></ul>	<li>G->S at 214: in dbSNP:rs6029542</li><li>K->R at 326: in breast cancer; somatic mutation</li><li>M->T at 370: in CPT-resistant leukemia</li><li>D->G at 533: in CPT-resistant leukemia</li><li>N->S at 722: in CPT-resistant leukemia</li><li>T->A at 729: in CPT-resistant lung cancer</li>	sumoylation	GO:0016925			nucleoplasm	GO:0005654	<li>Q56148</li><li>P56872</li>		rs6029542	3
P11388	7153	<ul><li>S->A at 1469: Abolishes binding to the antibody MPM2</li></ul>	<li>R->Q at 450: in teniposide </li><li>R->K at 487: in amsacrine resistant cells</li><li>T->K at 1324: in dbSNP:rs28969502</li><li>G->D at 1386: in dbSNP:rs34300454</li><li>A->S at 1515: in dbSNP:rs11540720</li>			binding	GO:0005488					<li>rs11540720</li><li>rs34300454</li><li>rs28969502</li>	3
P11473	7421	<ul><li>PF->AA at 61-62: Promotes heterodimerization with RXRA; when associated with A-75</li><li>H->A at 75: Promotes heterodimerization with RXRA; when associated with A-61 and A-62</li></ul>	<li>G->D at 33: in rickets</li><li>H->Q at 35: in rickets</li><li>K->E at 45: in rickets</li><li>G->D at 46: in rickets</li><li>F->I at 47: in rickets</li><li>R->Q at 50: in rickets</li><li>R->Q at 73: in rickets</li><li>R->Q at 80: in rickets</li><li>L->V at 230: in dbSNP:rs11574090</li><li>R->L at 274: in rickets; decreases affinity for ligand by a factor of 1000</li><li>H->Q at 305: in rickets</li><li>I->S at 314: in rickets</li><li>T->I at 362: in dbSNP:rs11574115</li><li>R->C at 391: in rickets</li>							P19793		<li>rs11574115</li><li>rs11574090</li>	3
P11474	2101	<ul><li>K->R at 14: Some loss of sumoylation. Complete loss of sumoylation; when associated with R-403</li><li>S->A at 19: 50% loss of phosphorylation but represses transactivation activity in the absence of coactivator. Almost complete loss of phosphorylation and 2-fold loss of repression of transactivation activity in response to coactivator; when associated with A-22</li><li>S->D at 19: Represses transactivation activity in response to coactivator as for wild type; when associated with D-22</li><li>S->A at 22: 15% loss of phosphorylation but little transactivating activity. Almost complete loss of phosphorylation and 2-fold loss of repression of transactivation activity in the presence of coactivator; when associated with A-19</li><li>S->D at 22: Represses transactivation activity in response to coactivator as for wild type; when associated with D-19</li><li>S->A at 118: Binds DNA as a monomer or as a dimer as for wild type. No effect on interaction with PPARGC1A</li><li>T->A at 124: Binds DNA predominantly as a monomer. Loss of interaction with PPARGC1A</li><li>MSVLQ->VSVLE at 258-262: Almost complete loss of interaction to L2 or to L3 of PPARGC1A</li><li>S->H at 259: Little effect on binding L2 of PPARGC1A. Greatly reduced binding to L3 of PPARGC1A</li><li>R->A at 315: Almost complete loss of interaction to L2 or to L3 of PPARGC1A</li><li>D->A at 338: Almost complete loss of interaction to L2 or to L3 of PPARGC1A</li><li>H->A at 341: Little effect on binding L3 of PPARGC1A</li><li>E->A at 343: No effect on binding L3 of PPARGC1A</li><li>K->R at 403: Decrease in sumoylation. No effect on transcriptional activity. Complete loss of sumoylation; when associated with R-14</li><li>L->A at 413: Loss of coactivation activity; when associated with A-418. Loss of increased response to coactivator; when associated with A-19 and A-418</li><li>L->A at 418: Loss of coactivation activity; when associated with A-413. Loss of increased response to coactivator activity; when associated with A-19 and A-413</li><li>Missing at 421-423: Greatly reduced interaction with L3 motif of PPARGC1A. Less effect on binding to L2 motif of PPARGC1A</li><li>D->A at 423: Little effect on binding L3 of PPARGC1A</li></ul>		<li>phosphorylation</li><li>sumoylation</li>	<li>GO:0016310</li><li>GO:0016925</li>	binding	GO:0005488			<li>Q9UBK2</li><li>Q865B7</li><li>Q865B6</li>			1
P11498	5091	<ul><li>F->A,E at 1077: Loss of tetramerization and enzyme activity, resulting in an inactive homodimer</li></ul>	<li>H->L at 76: in dbSNP:rs7104156</li><li>V->A at 145: in PC deficiency; mild: in dbSNP rsrs28940591, MIM: 266150</li><li>R->C at 451: in PC deficiency; mild, MIM: 266150</li><li>A->T at 610: in PC deficiency; mild: in dbSNP rsrs28940589, MIM: 266150</li><li>M->I at 743: in PC deficiency; mild: in dbSNP rsrs28940590, MIM: 266150</li>								Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	<li>rs28940591</li><li>rs28940590</li><li>rs28940589</li><li>rs7104156</li>	3
P11586	4522	<ul><li>S->A at 49: No effect on dehydrogenase and cyclohydrolase activity. Strong increase of Km for NADP</li><li>S->Q at 49: Reduces dehydrogenase by 75% and cyclohydrolase activity by 99%. No effect on Km for NADP and for 5,10-methenyltetrahydrofolate</li><li>Y->A,S at 52: Reduces dehydrogenase activity by 99%. Reduces cyclohydrolase activity by 70%. No effect on Km for NADP and for 5,10-methenyltetrahydrofolate</li><li>Y->F at 52: Slightly reduces dehydrogenase and cyclohydrolase activity. Increase of Km for NADP and for 5,10-methenyltetrahydrofolate</li><li>K->A,I,S,T at 56: Decreases dehydrogenase activity over 90%. Loss of cyclohydrolase activity</li><li>K->E,M,Q at 56: Moderate decrease of dehydrogenase activity. Loss of cyclohydrolase activity. Strong increase of Km for NADP. Decrease of Km for 5,10-methenyltetrahydrofolate</li><li>K->R at 56: Reduces dehydrogenase and cyclohydrolase activity by 99%. No effect on Km for NADP and for 5,10-methenyltetrahydrofolate</li><li>C->Q at 147: Reduces dehydrogenase activity by 50% and cyclohydrolase activity by 87%</li></ul>	<li>R->K at 134: in dbSNP:rs1950902</li><li>R->H at 293: associated with susceptibility to folate-sensitive NTD; dbSNP:rs34181110</li><li>R->Q at 653: may be associated with susceptibility to folate-sensitive NTD; dbSNP:rs2236225</li><li>T->M at 761: in dbSNP:rs10813</li><li>L->F at 769: in dbSNP:rs17857382</li>			cyclohydrolase activity	GO:0019238					<li>rs34181110</li><li>rs17857382</li><li>rs10813</li><li>rs2236225</li><li>rs1950902</li>	3
P11597	1071	<ul><li>T->Y at 155: Reduces triglyceride transfer and cholesteryl ester transfer 5-fold</li><li>V->W at 215: Reduces triglyceride transfer 10-fold. No effect on cholesteryl ester transfer</li><li>R->S at 218: Reduces triglyceride transfer 10-fold. Slight reduction of cholesteryl ester transfer</li><li>S->A at 247: Reduces triglyceride transfer 5-fold. Slight reduction of cholesteryl ester transfer</li><li>F->R at 282: Not secreted</li><li>F->R at 287: Not secreted</li><li>F->D at 309: Not secreted</li><li>L->Q at 313: Reduces cholesteryl ester transfer by 60%</li><li>Y->S at 392: Not secreted</li><li>L->W at 399: Not secreted</li><li>V->R at 433: Reduces activity by 60%</li></ul>	<li>A->G at 15: in dbSNP:rs34065661</li><li>R->W at 154: in dbSNP:rs34716057</li><li>L->P at 168: in hyperalphalipoproteinemia; reduced secretion into plasma, MIM: 143470</li><li>R->C at 299: in hyperalphalipoproteinemia; reduced secretion into plasma, MIM: 143470</li><li>G->S at 331: in dbSNP:rs5881, MIM: 143470</li><li>V->M at 385: in dbSNP:rs34855278, MIM: 143470</li><li>A->P at 390: in dbSNP:rs5880, MIM: 143470</li><li>V->I at 422: in dbSNP:rs5882, MIM: 143470</li><li>V->M at 455: in dbSNP:rs2228667, MIM: 143470</li><li>D->G at 459: in CETP deficiency; dbSNP:rs2303790, MIM: 607322</li><li>R->Q at 468: in dbSNP:rs1800777, MIM: 607322</li><li>V->M at 486: in dbSNP:rs5887, MIM: 607322</li>	secretion	GO:0046903					<li>P25914</li><li>P47896</li><li>P11597</li><li>P22687</li>	<li>Hyperalphalipoproteinemia [MIM:143470]</li><li>CETP deficiency [MIM:607322]</li>	<li>rs5882</li><li>rs34716057</li><li>rs2303790</li><li>rs5880</li><li>rs1800777</li><li>rs5881</li><li>rs2228667</li><li>rs34065661</li><li>rs34855278</li><li>rs5887</li>	3
P11766	128	<ul><li>R->A,D at 115: Loss of FDH activity and loss of activation by fatty acids</li></ul>	<li>L->S at 163: in dbSNP:rs28730623</li><li>V->I at 309: in dbSNP rsrs28730628</li><li>D->E at 353: in dbSNP:rs16996593</li>							<li>P79896</li><li>P11766</li><li>Q570B4</li><li>Q03134</li><li>P32771</li><li>O19053</li><li>P19854</li><li>P25437</li><li>P80467</li><li>P12711</li><li>P93629</li><li>Q9S7E4</li><li>P73138</li><li>P81600</li><li>P81601</li><li>Q07103</li><li>P33677</li><li>P72324</li><li>Q07511</li><li>P80360</li><li>Q96533</li><li>Q06099</li><li>P44557</li><li>O74685</li><li>P46415</li><li>O74540</li><li>P33160</li><li>P47734</li><li>P80572</li><li>P39450</li><li>Q17335</li><li>P46154</li><li>P81431</li><li>Q9ZRI8</li><li>P78870</li><li>P28474</li><li>P93436</li>		<li>rs16996593</li><li>rs28730628</li><li>rs28730623</li>	3
P11801	5681	<ul><li>D->A at 218: Loss of autophosphorylation</li></ul>	<li>N->S at 301: in dbSNP rsrs35552721</li>	autophosphorylation	GO:0046777							rs35552721	3
P11912	973	<ul><li>S->A at 197: Increased phosphorylation of Y-188; when associated with A-203 and V-209</li><li>S->A at 203: Increased phosphorylation of Y-188; when associated with A-197 and V-209</li><li>T->V at 209: Increased phosphorylation of Y-188; when associated with A-197 and A-203</li></ul>		phosphorylation	GO:0016310								1
P11926	4953	<ul><li>C->A at 360: 25% decrease of in vitro nitrosylation level</li></ul>											1
P11940	26986	<ul><li>R->A at 455: Greatly reduces methylation by CARM1 (in vitro); when associated with A-460</li><li>R->A at 460: Greatly reduces methylation by CARM1 (in vitro); when associated with A-455</li></ul>								Q86X55			1
P12004	5111	<ul><li>K->R at 164: Abolishes ubiquitination. No effect on interaction with SHPRH</li></ul>											1
P12104	2169	<ul><li>L->G at 39: Reduced stability</li><li>E->G at 64: Localized reduction in stability</li><li>L->A at 65: Reduced stability</li><li>L->G at 65: Reduced stability</li><li>V->G at 67: Localized reduction in stability</li><li>L->G at 90: Reduced stability</li><li>V->G at 123: Reduced stability</li></ul>	<li>A->T at 55: in 29% of the population; 2-fold greater affinity for long-chain fatty acids; increased fat oxidation and insulin resistance; dbSNP:rs1799883</li>							<li>P67974</li><li>P67973</li><li>P67971</li><li>P69048</li><li>P01330</li><li>P0C236</li><li>P69047</li><li>P07453</li><li>P42633</li><li>P01324</li><li>P68243</li><li>P01320</li><li>P68992</li><li>P81423</li><li>P01328</li><li>Q9TQY7</li><li>P01340</li><li>P68990</li><li>P67969</li><li>P68991</li><li>P67968</li><li>P68245</li><li>P81881</li><li>P69046</li><li>P01336</li><li>P68988</li><li>P68987</li><li>P01334</li><li>P01316</li><li>P13190</li><li>P01331</li><li>P01314</li><li>P01319</li><li>P09477</li><li>P09476</li><li>P12703</li><li>P29335</li><li>P12704</li><li>P18109</li><li>P68989</li><li>P12708</li>		rs1799883	3
P12277	1152	<ul><li>C->S,Y at 283: Complete loss of activity</li><li>R->H,L,Q at 292: Complete loss of activity</li><li>R->K at 292: 42% of wild-type activity</li><li>D->E at 340: No change in activity</li></ul>	<li>K->R at 177: in dbSNP rsrs36002620</li><li>S->L at 309: in dbSNP rsrs35156510</li><li>L->F at 360: in dbSNP:rs12505</li>									<li>rs12505</li><li>rs35156510</li><li>rs36002620</li>	3
P12314	2209	<ul><li>N->D at 306: Decreases cell membrane expression by 50% in absence of FCER1G</li><li>N->G at 306: Increases cell membrane expression in absence of FCER1G</li></ul>	<li>L->P at 105: in dbSNP:rs619322</li>					cell membrane	GO:0005886	<li>Q8SPW1</li><li>P30273</li><li>Q07249</li><li>Q9XSZ6</li><li>Q9BDR7</li>		rs619322	3
P12821	1636	<ul><li>S->A at 1299: Abolishes phosphorylation and decreases membrane retention</li></ul>	<li>A->T at 154: in dbSNP:rs13306087</li><li>A->T at 183: in dbSNP:rs12720754</li><li>Y->C at 244: in dbSNP:rs3730025</li><li>R->C at 260: in dbSNP:rs4302</li><li>R->L at 260: in dbSNP:rs4303</li><li>A->S at 261: in dbSNP:rs4303</li><li>P->L at 351: in dbSNP:rs2229839</li><li>G->R at 354: in dbSNP:rs56394458</li><li>R->Q at 379: in dbSNP:rs13306085</li><li>V->A at 524: in dbSNP:rs12720746</li><li>R->W at 561: in dbSNP:rs4314</li><li>D->G at 592: in dbSNP:rs12709426</li><li>M->T at 828: in dbSNP:rs13306091</li><li>T->M at 916: in dbSNP:rs3730043</li><li>I->T at 1018: in dbSNP:rs4976</li><li>F->V at 1051: in dbSNP:rs4977</li><li>T->M at 1187: in dbSNP:rs12709442</li><li>P->L at 1228: no effect on activity; increases secretion; rate of solubilization is 2.5-fold higher than wild-type</li><li>R->Q at 1279: in dbSNP:rs4980</li><li>R->S at 1286: in dbSNP:rs4364</li><li>Q->P at 1296: in dbSNP:rs4981</li>	<li>phosphorylation</li><li>secretion</li>	<li>GO:0016310</li><li>GO:0046903</li>			membrane	GO:0016020			<li>rs3730043</li><li>rs12720746</li><li>rs13306091</li><li>rs12709442</li><li>rs4981</li><li>rs12720754</li><li>rs4980</li><li>rs56394458</li><li>rs2229839</li><li>rs12709426</li><li>rs4364</li><li>rs4302</li><li>rs13306087</li><li>rs4303</li><li>rs4314</li><li>rs3730025</li><li>rs13306085</li><li>rs4976</li><li>rs4977</li>	3
P12830	999	<ul><li>GGG->AAA at 759-761: Binds to CTNNB1 but abolishes formation of the PSEN1/CTNNB1 complex; when associated with CTNNB1 D-431. Abolishes binding PSEN1. Abolishes gamma-secretase cleavage</li></ul>	<li>D->N at 72: in dbSNP:rs35606263</li><li>H->Y at 123: in diffuse gastric cancer</li><li>T->P at 193: in diffuse gastric cancer</li><li>D->G at 244: in HDGC, MIM: 137215</li><li>S->A at 270: may contribute to prostate cancer, MIM: 137215</li><li>Missing  at 274-277: in gastric adenocarcinoma, MIM: 137215</li><li>M->I at 282: in a breast cancer sample; somatic mutation, MIM: 137215</li><li>N->S at 315: in lobular breast carcinoma, MIM: 137215</li><li>E->D at 336, MIM: 137215</li><li>T->A at 340: in HDGC and colorectal cancer, MIM: 137215</li><li>D->A at 370: in diffuse gastric cancer, MIM: 137215</li><li>I->N at 393: in dbSNP:rs34466743, MIM: 137215</li><li>Missing  at 400: in gastric carcinoma; loss of heterozygosity, MIM: 137215</li><li>Missing  at 418-423: in gastric carcinoma, MIM: 137215</li><li>E->Q at 463: in diffuse gastric cancer, MIM: 137215</li><li>T->I at 470, MIM: 137215</li><li>V->D at 473: in diffuse gastric cancer, MIM: 137215</li><li>V->I at 473: in dbSNP:rs36087757, MIM: 137215</li><li>L->P at 478: in dbSNP rsrs35520415, MIM: 137215</li><li>V->A at 487: in HDGC, MIM: 137215</li><li>A->T at 592: in thyroid cancer; may play a role in colorectal carcinogenesis: in dbSNP rsrs35187787, MIM: 137215</li><li>R->Q at 598: in diffuse gastric cancer, MIM: 137215</li><li>A->T at 617: in endometrial cancer; loss of heterozygosity; also found as a polymorphism; dbSNP:rs33935154, MIM: 608089</li><li>L->V at 630: in dbSNP:rs2276331, MIM: 608089</li><li>C->R at 695: in dbSNP:rs9282655, MIM: 608089</li><li>L->V at 711: in endometrial cancer, MIM: 608089</li><li>D->N at 777: in a breast cancer sample; somatic mutation, MIM: 608089</li><li>V->M at 832: in dbSNP rsrs35572355, MIM: 608089</li><li>S->G at 838: in ovarian cancer; loss of heterozygosity, MIM: 608089</li><li>E->K at 880: in dbSNP rsrs34507583, MIM: 608089</li>			binding	GO:0005488			<li>Q9XT97</li><li>P49768</li><li>Q14126</li><li>Q5R780</li><li>Q6RH31</li><li>P35222</li><li>P79802</li><li>Q4JIM4</li><li>Q8HXW5</li>	<li>Hereditary diffuse gastric cancer (HDGC) [MIM:137215]</li><li>Endometrial cancer [MIM:608089]</li>	<li>rs2276331</li><li>rs34507583</li><li>rs35520415</li><li>rs9282655</li><li>rs35572355</li><li>rs34466743</li><li>rs36087757</li><li>rs35187787</li><li>rs35606263</li><li>rs33935154</li>	3
P13010	7520	<ul><li>EE->AA at 720-721: Abolishes interaction with PRKDC and its recruitment to sites of DNA damage</li><li>DD->AA at 726-727: Abolishes interaction with PRKDC and its recruitment to sites of DNA damage</li></ul>	<li>L->F at 463: in dbSNP:rs1805380</li><li>I->V at 508: in dbSNP:rs2287558</li>							<li>Q8QGX4</li><li>Q8WN22</li><li>P78527</li>		<li>rs1805380</li><li>rs2287558</li>	3
P13051	7374	<ul><li>D->E,N at 154: Loss of activity</li><li>Y->A,C,S at 156: Thymine-DNA glycosylase activity</li><li>N->D at 213: Cytosine-DNA glycosylase activity</li></ul>	<li>Q->R at 4: in dbSNP:rs7488798</li><li>F->S at 251: in HIGM5; fully active and stable when expressed in E. coli; mistargeted to mitochondria rather than the nucleus, MIM: 608106</li>			DNA glycosylase	GO:0019104	nucleus	GO:0005634	P29588	Immunodeficiency with hyper-IgM type 5 syndrome (HIGM5) [MIM:608106]	rs7488798	3
P13498	1535	<ul><li>P->Q at 157: Loss of interaction with NOXO1</li></ul>	<li>G->R at 24: in ARCGD: in dbSNP rsrs28941476, MIM: 233690</li><li>H->Y at 72: in dbSNP:rs4673, MIM: 233690</li><li>R->Q at 90: in ARCGD, MIM: 233690</li><li>H->R at 94: in ARCGD, MIM: 233690</li><li>S->R at 118: in ARCGD, MIM: 233690</li><li>P->Q at 156: in ARCGD, MIM: 233690</li><li>A->V at 174: in dbSNP:rs1049254, MIM: 233690</li>							Q8NFA2	Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]	<li>rs4673</li><li>rs28941476</li><li>rs1049254</li>	3
P13500	6347	<ul><li>Missing at 24-91: 83% reduction in activity</li><li>Missing at 24-85: 90% reduction in activity</li><li>Missing at 24: Loss of activity</li><li>Missing at 25-31: Loss of signaling</li><li>D->A at 26: Reduction in activity</li><li>I->A at 28: Slight reduction in activity</li><li>N->A at 29: 50% reduction in activity</li><li>P->A at 31: Loss of dimerization; slight reduction of activity</li><li>V->A at 32: Slight reduction in activity</li><li>V->E at 32: Slight reduction in affinity</li><li>T->A at 33: Slight reduction in activity</li><li>T->E at 33: Slight reduction in affinity</li><li>Y->A at 36: Loss of activity</li><li>R->F at 47: 95% reduction in activity; strong reduction of receptor binding</li><li>S->Q at 50: 40% reduction in activity</li><li>Y->D at 51: Loss of activity</li><li>R->L at 53: Loss of activity</li><li>K->A at 79: No effect on heparin binding</li><li>K->A at 81: Strongly reduces heparin binding</li><li>H->A at 89: Strongly reduces heparin binding</li><li>D->L at 91: 90% reduction in activity</li><li>Missing at 95-99: No effect on heparin binding</li></ul>				<li>receptor binding</li><li>heparin binding</li>	<li>GO:0005102</li><li>GO:0008201</li>						1
P13612	3676	<ul><li>K->Q at 590: Abolishes almost completely cleavage</li><li>R->L at 591: Abolishes completely cleavage</li><li>S->A at 1021: Abolishes phosphorylation</li><li>S->D at 1021: Reduces PXN binding</li><li>Y->A at 1024: Disrupts PXN binding</li></ul>	<li>S->T at 634: in dbSNP:rs35322532</li><li>V->A at 824: in dbSNP:rs1143675</li><li>Q->R at 878: in dbSNP:rs1143676</li>	phosphorylation	GO:0016310	binding	GO:0005488			<li>P49024</li><li>P49023</li><li>Q5R7I1</li>		<li>rs1143675</li><li>rs1143676</li><li>rs35322532</li>	3
P13674	5033	<ul><li>Y->A at 210: Strongly reduced affinity for peptide substrate</li><li>Y->A at 213: Strongly reduced affinity for peptide substrate</li><li>Y->A at 247: Strongly reduced affinity for peptide substrate</li></ul>											1
P13725	5008	<ul><li>C->S at 74: Inactive</li><li>C->S at 192: Inactive</li><li>F->G at 201: Inactive</li><li>F->G at 209: Inactive</li></ul>	<li>T->M at 9: in dbSNP:rs5763919</li>									rs5763919	3
P13866	6523	<ul><li>N->Q at 248: Loss of N-glycosylation</li></ul>	<li>D->G at 28: in GGM, MIM: 606824</li><li>D->N at 28: in GGM, MIM: 606824</li><li>N->S at 51: in dbSNP:rs17683011, MIM: 606824</li><li>R->W at 135: in GGM; loss of activity, MIM: 606824</li><li>G->R at 318: in GGM, MIM: 606824</li><li>A->T at 411: in dbSNP:rs17683430, MIM: 606824</li><li>A->V at 468: in GGM, MIM: 606824</li>								Congenital glucose/galactose malabsorption (GGM) [MIM:606824]	<li>rs17683430</li><li>rs17683011</li>	3
P13987	966	<ul><li>Y->R at 29: No loss of function</li><li>N->R,Q at 33: No loss of function</li><li>D->R at 37: No loss of function</li><li>F->R at 48: Some loss of function. Some lysis</li><li>D->R at 49: Loss of function. Lysis</li><li>L->E at 58: No loss of function</li><li>K->E at 63: No loss of function</li><li>W->E at 65: Complete loss of function. Lysis</li><li>K->D at 66: No loss of function</li><li>K->Q at 66: Loss of glycation mediated inactivation</li><li>F->K at 67: No loss of function</li><li>H->Q at 69: Loss of glycation mediated inactivation</li><li>F->E at 72: Almost complete loss of function. Lysis</li><li>R->E at 78: Loss of function. Lysis</li><li>L->D at 79: No loss of function</li><li>E->R at 81: Almost complete loss of function. Lysis</li><li>N->K at 82: No loss of function</li><li>Y->R at 87: No loss of function</li></ul>											1
P14061	3292	<ul><li>L->V at 150: Alters substrate specificity</li></ul>	<li>A->V at 238</li><li>S->G at 313: in dbSNP:rs605059</li>									rs605059	3
P14091	1510	<ul><li>C->A at 60: Abolishes homodimerization</li></ul>	<li>T->I at 329: in dbSNP:rs6503</li>									rs6503	3
P14210	3082	<ul><li>R->Q at 494: Loss of activity due to absence of proteolytic cleavage</li></ul>	<li>S->I at 153: in dbSNP:rs17566</li><li>E->K at 304: in dbSNP:rs5745687</li><li>D->Y at 330: in dbSNP:rs5745688</li>									<li>rs5745687</li><li>rs17566</li><li>rs5745688</li>	3
P14384	1368	<ul><li>E->A at 277: 5-fold decrease in substrate affinity. 22-fold decrease in specific affinity. 104-fold decrease in catalytic efficiency. Greatly reduced heat stability</li><li>E->Q at 277: 2-fold decrease in substrate affinity. Small increase in specific affinity. Reduced heat stability by 50%</li><li>E->Q at 281: Abolishes enzyme activity</li><li>S->A,T at 423: Expressed on cell membrane. Released from membrane by PI-PLC</li><li>S->P at 423: Little expression on cell membrane. Perinuclear localization. Not released from membrane by PI-PLC</li></ul>	<li>R->H at 24: in dbSNP:rs7978197</li><li>V->I at 133: in dbSNP:rs7309831</li>	localization	GO:0051179			<li>cell membrane</li><li>membrane</li>	<li>GO:0005886</li><li>GO:0016020</li>	<li>P08954</li><li>P14262</li><li>P45723</li><li>P34024</li>		<li>rs7978197</li><li>rs7309831</li>	3
P14550	10327	<ul><li>Y->F at 50: Complete loss of enzymatic activity</li><li>Y->H at 50: Complete loss of enzymatic activity</li><li>K->M at 80: Complete loss of enzymatic activity</li><li>H->Q at 113: Strong decrease in enzymatic activity</li><li>I->A at 299: No change in enzymatic activity</li><li>I->C at 299: No change in enzymatic activity</li><li>V->C at 300: No change in enzymatic activity</li></ul>	<li>N->S at 52: in dbSNP:rs2229540</li>									rs2229540	3
P14672	6517	<ul><li>LL->AA at 489-490: Changes subcellular location mainly to the plasma membrane</li></ul>	<li>S->R at 55: in dbSNP:rs35198331</li><li>T->S at 78: in dbSNP:rs5434</li><li>A->V at 358: in dbSNP:rs8192702</li><li>V->I at 383: in NIDDM, MIM: 125853</li><li>I->T at 385, MIM: 125853</li>					plasma membrane	GO:0005886		Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	<li>rs35198331</li><li>rs5434</li><li>rs8192702</li>	3
P14784	3560	<ul><li>Y->F at 418: Partial loss of interaction with SHB; when associated with F-536</li><li>Y->F at 536: Partial loss of interaction with SHB; when associated with F-418</li></ul>	<li>S->F at 83: in dbSNP:rs2228143</li><li>D->E at 391: in dbSNP:rs228942</li>							Q15464		<li>rs228942</li><li>rs2228143</li>	3
P15121	231	<ul><li>D->N at 44: Reduced enzymatic activity</li><li>Y->F at 49: Complete loss of enzymatic activity</li><li>K->M at 78: Reduced enzymatic activity</li><li>H->N at 111: Reduced enzymatic activity</li></ul>	<li>I->F at 15: in dbSNP:rs5054</li><li>H->L at 42: in dbSNP:rs5056</li><li>L->V at 73: in dbSNP:rs5057</li><li>K->E at 90: in dbSNP:rs2229542</li><li>G->S at 204: in dbSNP:rs5061</li><li>T->I at 288: in dbSNP:rs5062</li>									<li>rs5054</li><li>rs5062</li><li>rs5057</li><li>rs5056</li><li>rs5061</li><li>rs2229542</li>	3
P15144	290	<ul><li>DYVEKQAS->QSVEE at 288-295: No change in receptor activity and HCoV-229E infection</li><li>DYVEKQAS->QSVNE at 288-295: No change in receptor activity and HCoV-229E infection</li><li>DYVEKQAS->QSVNE at 288-295: Complete loss of receptor activity and blocks HCoV-229E infection. No loss of enzymatic activity</li><li>EKQ->NKT at 291-293: Complete loss of receptor activity and blocks HCoV-229E infection. No loss of enzymatic activity</li><li>E->N at 291: No change of receptor activity and HCoV-229E infection</li><li>Q->T at 293: No change of receptor activity and HCoV-229E infection</li><li>N->E at 818: Very low receptor activity and HCoV-229E infection</li></ul>	<li>V->M at 20: in dbSNP:rs10152474</li><li>R->Q at 86: in dbSNP:rs25653</li><li>D->Y at 242</li><li>L->P at 243</li><li>A->V at 311: in dbSNP:rs17240268</li><li>T->M at 321: in dbSNP:rs8179199</li><li>I->K at 603: in dbSNP:rs17240212</li><li>I->M at 603: in dbSNP:rs8192297</li><li>S->N at 752: in dbSNP:rs25651</li>			receptor activity	GO:0004872					<li>rs8192297</li><li>rs8179199</li><li>rs25653</li><li>rs25651</li><li>rs17240268</li><li>rs17240212</li><li>rs10152474</li>	3
P15151	5817	<ul><li>KCSR->ACSA at 369-372: Partial loss of DYNLT1 binding</li></ul>	<li>A->T at 67: in dbSNP:rs1058402</li><li>A->T at 295: in dbSNP:rs35365841</li><li>I->M at 340: in dbSNP:rs203710</li>			binding	GO:0005488			<li>P63171</li><li>P63172</li>		<li>rs35365841</li><li>rs203710</li><li>rs1058402</li>	3
P15153	5880	<ul><li>C->W at 189: Abolishes in vitro prenylation</li></ul>	<li>P->L at 29: in a breast cancer sample; somatic mutation</li><li>D->N at 57: in neutrophil immunodeficiency syndrome; dominant-negative mutant; binds GDP, but not GTP; inhibits oxidase activation and superoxide anion production in vitro, MIM: 608203</li>								Neutrophil immunodeficiency syndrome [MIM:608203]		3
P15289	410	<ul><li>C->A at 69: Abolishes enzyme activity</li><li>C->S at 69: Strongly decreases enzyme activity</li></ul>	<li>A->D at 18: in MLD; enzyme activity reduced to 5% of wild-type enzyme, MIM: 250100</li><li>D->N at 29: in MLD; infantile-onset; causes a severe reduction of enzyme activity, MIM: 250100</li><li>D->H at 30: in MLD; enzyme activity reduced to 2.4% of wild-type enzyme, MIM: 250100</li><li>G->S at 32: in MLD; late-infantile form, MIM: 250100</li><li>L->P at 68: in MLD; late-infantile form, MIM: 250100</li><li>L->P at 76, MIM: 250100</li><li>P->L at 82: in MLD; late-infantile-onset; dbSNP:rs6151411, MIM: 250100</li><li>R->Q at 84: in MLD; mild, MIM: 250100</li><li>R->W at 84: in MLD; juvenile form, MIM: 250100</li><li>G->D at 86: in MLD; severe; no enzyme residual activity; leads to a decreased stability of the mutant enzyme; causes an arrest of the mutant enzyme polypeptide in a prelysosomal compartment, MIM: 250100</li><li>P->A at 94: in MLD; adult form, MIM: 250100</li><li>S->N at 95: in MLD, MIM: 250100</li><li>S->F at 96: in MLD; severe, MIM: 250100</li><li>S->L at 96: in MLD; severe; no enzyme residual activity, MIM: 250100</li><li>G->D at 99: in MLD; adult type, MIM: 250100</li><li>G->V at 99: in MLD; late-infantile form, MIM: 250100</li><li>G->R at 119: in MLD; juvenile-onset, MIM: 250100</li><li>G->S at 122: in MLD; adult type, MIM: 250100</li><li>L->P at 135: in MLD, MIM: 250100</li><li>P->L at 136: in MLD; severe late-infantile type; loss of enzymatic activity, MIM: 250100</li><li>P->S at 136: in MLD; late-infantile form, MIM: 250100</li><li>Missing  at 137: in MLD, MIM: 250100</li><li>R->G at 143: in MLD; juvenile/adult-onset; generates 5% as much activity as the parallel normal control, MIM: 250100</li><li>P->L at 148: in MLD; juvenile-onset, MIM: 250100</li><li>D->Y at 152: in MLD, MIM: 250100</li><li>Q->H at 153: in MLD; late-infantile form; no enzyme residual activity, MIM: 250100</li><li>G->D at 154: in MLD, MIM: 250100</li><li>P->L at 155: in MLD; juvenile-onset, MIM: 250100</li><li>P->R at 155: in MLD, MIM: 250100</li><li>C->R at 156: in MLD; adult type; enzyme activity reduced to 50% of wild-type enzyme, MIM: 250100</li><li>P->R at 167: in MLD, MIM: 250100</li><li>D->N at 169: in MLD, MIM: 250100</li><li>C->Y at 172: in MLD; juvenile-onset, MIM: 250100</li><li>I->S at 179: in MLD; mild, MIM: 250100</li><li>L->Q at 181: in MLD; infantile form, MIM: 250100</li><li>Q->H at 190: in MLD; no enzyme residual activity, MIM: 250100</li><li>P->T at 191: in MLD; juvenile-onset, MIM: 250100</li><li>W->C at 193: in dbSNP:rs6151415, MIM: 250100</li><li>Y->C at 201: in MLD; juvenile-onset; low amounts of residual enzyme activity; leads to a decreased stability of the mutant enzyme; causes an arrest of the mutant enzyme polypeptide in a prelysosomal compartment, MIM: 250100</li><li>A->P at 212: in MLD; enzyme activity reduced to 2.6% of wild-type enzyme, MIM: 250100</li><li>A->V at 212: in MLD, MIM: 250100</li><li>R->H at 217: in MLD; enzyme activity reduced to 15.6% of wild-type enzyme, MIM: 250100</li><li>F->V at 219: in MLD; enzyme activity reduced to less than 1% of normal activity, MIM: 250100</li><li>A->V at 224: in MLD, MIM: 250100</li><li>H->Y at 227: in MLD; late-infantile form, MIM: 250100</li><li>P->T at 231: in MLD, MIM: 250100</li><li>R->C at 244: in MLD; juvenile-onset, MIM: 250100</li><li>R->H at 244: in MLD; infantile-onset, MIM: 250100</li><li>G->R at 245: in MLD; severe; represents 20% of all alleles among Australians and about 85% of all Australians Lebanese alleles, MIM: 250100</li><li>F->S at 247: in MLD, MIM: 250100</li><li>S->Y at 250: in MLD; infantile-onset, MIM: 250100</li><li>E->K at 253: in MLD; late-infantile, MIM: 250100</li><li>D->H at 255: in MLD; late-infantile form; no enzyme residual activity; leads to a decreased stability of the mutant enzyme; causes an arrest of the mutant enzyme polypeptide in a prelysosomal compartment, MIM: 250100</li><li>T->M at 274: in MLD; severe; 35% of normal activity, MIM: 250100</li><li>D->Y at 281: in MLD, MIM: 250100</li><li>N->S at 282: in MLD; enzyme activity reduced to 0.6% of wild-type enzyme, MIM: 250100</li><li>T->P at 286: in MLD; adult type: in dbSNP rsrs28940894, MIM: 250100</li><li>R->C at 288: in MLD, MIM: 250100</li><li>R->H at 288: in MLD; adult form, MIM: 250100</li><li>G->D at 293: in MLD; late-onset, MIM: 250100</li><li>G->S at 293: in MLD; adult type; causes a severe reduction of enzyme activity, MIM: 250100</li><li>C->Y at 294: in MLD; juvenile-onset; causes a severe reduction of enzyme activity, MIM: 250100</li><li>S->Y at 295: in MLD; severe, MIM: 250100</li><li>L->S at 298: in MLD; late-infantile form; complete loss of enzyme activity, MIM: 250100</li><li>C->F at 300: in MLD; late-infantile-onset; enzyme activity reduced to less than 1%; the mutant protein is unstable; results in more rapid enzyme degradation in lysosomes; addition of the cysteine protease inhibitor leupeptin does not increase the amount of the enzyme activity; strongly interferes with the octamerization process of the enzyme at low pH, MIM: 250100</li><li>K->N at 302: in MLD; enzyme activity reduced to 2.8% of wild-type enzyme, MIM: 250100</li><li>Y->H at 306: in MLD; juvenile-onset, MIM: 250100</li><li>G->D at 308: in MLD; late-infantile form, MIM: 250100</li><li>G->V at 308: in MLD; late-infantile form; no enzyme residual activity, MIM: 250100</li><li>G->S at 309: in MLD; severe; 13% of normal activity, MIM: 250100</li><li>R->Q at 311: in MLD; juvenile-onset, MIM: 250100</li><li>E->D at 312: in MLD; low amounts of residual enzyme activity; leads to a decreased stability of the mutant enzyme, MIM: 250100</li><li>A->T at 314: in MLD; infantile-onset, MIM: 250100</li><li>G->S at 325: in MLD; juvenile-onset, MIM: 250100</li><li>T->I at 327: in MLD; late-infantile form, MIM: 250100</li><li>D->V at 335: in MLD; late-infantile-onset; loss of enzymatic activity, MIM: 250100</li><li>N->S at 350: associated with arylsulfatase A pseudodeficiency; appeares to be responsible for the small size of the enzyme produced by pseudodeficiency fibroblasts because it leads to loss of an N-glycosylation site; dbSNP:rs2071421, MIM: 250100</li><li>F->V at 356: in dbSNP:rs6151422, MIM: 250100</li><li>K->N at 367: in MLD, MIM: 250100</li><li>R->Q at 370: in MLD; mild, MIM: 250100</li><li>R->W at 370: in MLD; severe; no enzyme residual activity, MIM: 250100</li><li>Y->N at 376: in MLD; enzyme activity reduced to 4.7% of wild-type enzyme, MIM: 250100</li><li>P->L at 377: in MLD; severe; high frequency among Habbanite Jews, MIM: 250100</li><li>D->E at 381: in MLD; early-infantile form, MIM: 250100</li><li>E->K at 382: in MLD; intermediate, MIM: 250100</li><li>R->C at 384: in MLD, MIM: 250100</li><li>R->Q at 390: in MLD; juvenile-onset, MIM: 250100</li><li>R->W at 390: in MLD; late-infantile and juvenile-onset, MIM: 250100</li><li>T->S at 391: in dbSNP:rs743616, MIM: 250100</li><li>H->Y at 397: in MLD; adult-onset, MIM: 250100</li><li>Missing  at 398: in MLD, MIM: 250100</li><li>Missing  at 406-408: in MLD; late-infantile-onset, MIM: 250100</li><li>T->I at 408: in MLD; adult type: in dbSNP rsrs28940895, MIM: 250100</li><li>T->I at 409: in MLD; mild, MIM: 250100</li><li>P->T at 425: in MLD; juvenile-onset; retains about 12% of specific enzyme activity; the mutant protein is unstable; results in more rapid enzyme degradation in lysosomes; addition of the cysteine protease inhibitor leupeptin increases the amount of the enzyme activity; displays a modest reduction in the octamerization process of the enzyme at low pH, MIM: 250100</li><li>P->L at 426: in MLD; juvenile/adult-onset; mild; common mutation: in dbSNP rsrs28940893, MIM: 250100</li><li>L->P at 428: in MLD; late-infantile form, MIM: 250100</li><li>Y->S at 429: in MLD; adult-onset, MIM: 250100</li><li>N->S at 440: in dbSNP:rs6151427, MIM: 250100</li><li>A->V at 464, MIM: 250100</li><li>A->G at 469: in MLD; early-infantile form, MIM: 250100</li><li>C->G at 489: in MLD; late-onset, MIM: 250100</li><li>R->H at 496: in dbSNP:rs6151428, MIM: 250100</li>					lysosomes	GO:0005764	<li>P51691</li><li>P26228</li><li>P82968</li>	Metachromatic leukodystrophy (MLD) [MIM:250100]	<li>rs2071421</li><li>rs743616</li><li>rs6151422</li><li>rs28940893</li><li>rs28940894</li><li>rs28940895</li><li>rs6151411</li><li>rs6151427</li><li>rs6151428</li><li>rs6151415</li>	3
P15291	2683	<ul><li>Y->G at 282: Reduction In N-acetylglucosamine binding</li><li>Y->F at 285: No change in enzymatic activity</li><li>Y->G at 307: Reduction In N-acetylglucosamine and UDP-galactose binding</li><li>W->G at 308: Reduction In N-acetylglucosamine binding</li><li>W->G at 310: Reduction In N-acetylglucosamine binding</li></ul>	<li>R->W at 21: in dbSNP:rs1065764</li><li>H->R at 257: in dbSNP:rs9169</li>			<li>galactose binding</li><li>binding</li>	<li>GO:0005534</li><li>GO:0005488</li>					<li>rs9169</li><li>rs1065764</li>	3
P15313	525	<ul><li>L->G at 513: Loss of interactions with SLC9A3R1 and SCL4A7</li></ul>	<li>T->I at 30: in dbSNP:rs17720303</li><li>L->P at 81: in dRTA, MIM: 267300</li><li>G->V at 123: in dRTA, MIM: 267300</li><li>R->W at 124: in dRTA, MIM: 267300</li><li>R->C at 157: in dRTA, MIM: 267300</li><li>E->K at 161, MIM: 267300</li><li>M->R at 174: in dRTA, MIM: 267300</li><li>T->P at 275: in dRTA, MIM: 267300</li><li>G->E at 316: in dRTA, MIM: 267300</li><li>P->R at 346: in dRTA, MIM: 267300</li><li>G->S at 364: in dRTA, MIM: 267300</li><li>R->H at 465: in dRTA, MIM: 267300</li>							<li>Q28619</li><li>O14745</li>	Distal renal tubular acidosis with deafness (dRTA) [MIM:267300]	rs17720303	3
P15374	7347	<ul><li>C->S at 95: Abolishes enzymatic activity</li></ul>											1
P15382	3753	<ul><li>K->H at 69: Lowers current 2-fold and leads to faster deactivation of KCNQ1/KCNE1 channel</li></ul>	<li>T->I at 7: in JLNS2; dbSNP:rs28933384, MIM: 612347</li><li>R->H at 32: in LQT5; could be a polymorphism; dbSNP:rs17857111, MIM: 176261</li><li>S->G at 38: in dbSNP:rs17846179 and dbSNP:rs1805127, MIM: 176261</li><li>V->F at 47: in JLNS2, MIM: 612347</li><li>L->H at 51: in JLNS2, MIM: 612347</li><li>G->A at 52: in dbSNP:rs17173509, MIM: 612347</li><li>TL->PP at 58-59: in JLNS2, MIM: 612347</li><li>S->L at 74: in LQT5, MIM: 176261</li><li>D->N at 76: in LQT5 and JLNS2; suppresses KCNQ1 currents markedly, MIM: 176261</li><li>D->N at 85: predisposes to acquired LQT5 susceptibility; shows a significant difference in current density and midpoint potential between the mutant and the wildt-ype channels; dbSNP:rs1805128, MIM: 176261</li><li>W->R at 87: in LQT5, MIM: 176261</li><li>R->W at 98: in LQT5, MIM: 176261</li><li>V->I at 109: in LQT5; mild phenotype; significantly reduced the wild-type I, MIM: 176261</li><li>P->T at 127: in LQT5, MIM: 176261</li>							<li>Q9MYS6</li><li>P51787</li><li>Q5R8Q2</li><li>O97531</li><li>Q28705</li><li>Q60409</li><li>O73925</li><li>Q9TUH9</li><li>Q9XSP1</li><li>P15382</li><li>O70344</li><li>Q9TTJ7</li>	<li>Jervell and Lange-Nielsen syndrome type 2 (JLNS2) [MIM:612347]</li><li>Long QT syndrome type 5 (LQT5) [MIM:176261]</li>	<li>rs17846179 and dbSNP:rs1805127</li><li>rs17857111</li><li>rs17173509</li><li>rs28933384</li><li>rs1805128</li>	3
P15428	3248	<ul><li>Y->A at 151: Loss of activity</li></ul>	<li>A->P at 140: in COA; inactive, MIM: 259100</li><li>Y->C at 217, MIM: 259100</li>								Cranioosteoarthropathy (COA) [MIM:259100]		3
P15498	7409	<ul><li>C->R at 529: Abolishes transforming activity</li></ul>	<li>T->M at 739: in dbSNP:rs36097961</li>									rs36097961	3
P15516	3347	<ul><li>R->I at 31: No effect on candidacidal activity of histatin-3 1/24</li><li>K->T,E at 32: 3-fold reduction in candidacidal activity of histatin-3 1/24</li><li>K->N at 36: No effect on candidacidal activity of histatin-3 1/24</li><li>H->P at 38: No effect on candidacidal activity of histatin-3 1/24</li><li>H->L,R at 40: No effect on candidacidal activity of histatin-3 1/24</li><li>R->G at 41: 10-fold reduction in candidacidal activity of histatin-3 1/24; when associated with E-32: in dbSNP rsrs58376281</li></ul>	<li>R->Q at 41: in histatin-3-2; loss of the proteolytic cleavage site; dbSNP:rs1136511</li><ul><li>R->G at 41: 10-fold reduction in candidacidal activity of histatin-3 1/24; when associated with E-32</li></ul><li>Missing  at 47-51: in histatin-3-2; dbSNP:rs17147990</li></ul>							P15516		<li>rs58376281</li><li>rs1136511</li>	4
P15529	4179	<ul><li>N->Q at 83: No effect on cytoprotective function. No effect on Neisseria binding. No effect on Measles virus binding</li><li>N->Q at 114: Strongly decreases cytoprotective function. Decreases Neisseria binding. Abolishes Measles virus binding</li><li>N->Q at 273: Strongly decreases cytoprotective function. Abolishes Neisseria binding. No effect on Measles virus binding</li></ul>	<li>S->F at 13</li><li>R->Q at 59</li><li>P->S at 165: in HUS; reduced cell surface expression, MIM: 235400</li><li>C->Y at 228: in a colorectal cancer sample; somatic mutation, MIM: 235400</li><li>S->P at 240: in HUS; no change in cell surface expression but reduced activity, MIM: 235400</li><li>D->N at 266: in dbSNP:rs17006830, MIM: 235400</li><li>Missing  at 271-272: in HUS; no cell surface expression, MIM: 235400</li><li>P->L at 324: in dbSNP rsrs41317833, MIM: 235400</li><li>A->V at 353: in dbSNP rsrs35366573, MIM: 235400</li><li>V->G at 355, MIM: 235400</li>			binding	GO:0005488	cell surface	GO:0009928,GO:0009986		Atypical hemolytic-uremic syndrome (HUS) [MIM:235400]	<li>rs41317833</li><li>rs17006830</li><li>rs35366573</li>	3
P15531	4830	<ul><li>F->W at 60: No loss of activity or substrate binding</li><li>P->S at 96: Increased motility of carcinoma cells</li><li>H->F at 118: Loss of serine/threonine kinase activity. Some loss of motility of carcinoma cells</li><li>H->G at 118: Loss of activity</li><li>S->A at 120: Limited increase in motility of carcinoma cells</li></ul>	<li>S->G at 120: in neuroblastoma; increased motility of carcinoma cells</li><ul><li>S->A at 120: Limited increase in motility of carcinoma cells</li></ul>			<li>binding</li><li>kinase activity</li>	<li>GO:0005488</li><li>GO:0016301</li>						4
P15813	912	<ul><li>Y->A at 331: Strongly reduced internalization</li><li>V->A at 334: Strongly reduced internalization</li></ul>	<li>T->S at 64</li>										3
P15923	6929	<ul><li>RR->GG at 550-551: No DNA-binding</li><li>R->K at 551: No DNA-binding</li><li>RVR->GVG at 561-563: No DNA-binding</li><li>R->K at 561: No DNA-binding</li><li>R->K at 563: No DNA-binding</li><li>K->A at 588: No DNA-binding and no dimerization</li><li>IL->DE at 591-592: No DNA-binding and no dimerization</li><li>A->D at 595: No change in DNA-binding or dimerization</li></ul>	<li>A->V at 8: in a colorectal cancer sample; somatic mutation</li><li>L->P at 120: in dbSNP:rs35354874</li><li>T->A at 198: in dbSNP:rs11879402</li><li>G->S at 431: in dbSNP:rs1052692</li>			DNA-binding	GO:0003677					<li>rs11879402</li><li>rs35354874</li><li>rs1052692</li>	3
P15927	6118	<ul><li>S->A at 29: Reduces phosphorylation by CDC2</li></ul>	<li>Y->S at 14: in dbSNP:rs28988896</li><li>G->R at 15: in dbSNP:rs28988897</li><li>N->S at 203: in dbSNP:rs28904899</li>	phosphorylation	GO:0016310					<li>Q9W739</li><li>Q9DGA2</li><li>Q9DGA5</li><li>P19026</li><li>Q5RCH1</li><li>Q9DG98</li><li>P06493</li><li>P48734</li><li>P43290</li><li>P23111</li><li>P13863</li><li>Q04770</li><li>P52389</li><li>P15436</li><li>P24100</li><li>P51958</li><li>P54119</li><li>Q41639</li><li>P93101</li><li>Q9DGD3</li>		<li>rs28904899</li><li>rs28988897</li><li>rs28988896</li>	3
P15941	4582	<ul><li>S->A,D,E,F,G,H, at 1098: Completely abrogates cleavage</li><li>S->C,T at 1098: Almost complete cleavage</li><li>D->A at 1116: Greatly reduced formation of isoform 5/isoform 7 complex</li><li>D->E at 1116: No effect on formation of isoform 5/isoform 7 complex</li><li>C->A at 1184: S-palmitoylation reduced by 50%. Complete loss of palymitoylation, no effect on endocytosis, recycling inhibited and AP1S1 binding reduced by 30%; when associated with C-1186. Accumulates in intracellular comparments; when associated with C-1186 and N-1203</li><li>C->A at 1186: S-palmitoylation reduced by 50%. Complete loss of palymitoylation, no effect on endocytosis, recycling inhibited, and AP1S1 binding reduced by 30%; when associated with C-1184. Accumulates in intracellular comparments; when associated with C-1184 and N-1203</li><li>RRK->AAA at 1187-1189: No nuclear targeting of HRG-stimulated MUC1 C-terminal nor JUP/gamma-catenin. No effect on interaction with JUP/gamma-catenin</li><li>RRK->QQQ at 1187-1189: No effect on palmitoylation</li><li>Y->F at 1191: No effect on EGFR-mediated phosphorylation</li><li>Y->N at 1191: No effect on endocytosis</li><li>Y->E at 1203: No effect on nuclear colocalization of MUC1CT and CTNNB1. No effect on in vitro PDFGR-induced cell invasiveness</li><li>Y->F at 1203: No effect on EGFR-mediated phosphorylation. No nuclear localization of MUC1CT. Reduced in vitro PDGFR-induced cell invasiveness</li><li>Y->N at 1203: Reduced endocytosis by 30%. Greatly reduced binding to AP1S2 and GRB2. Binding AP1S1 reduced by 25%. Reduced endocytosis by 77%; when associated with N-1243. Accumulates in intracellular compartments; when associated with C-1184 and C-1186</li><li>Y->F at 1209: Some reduction in EGFR-mediated phosphorylation</li><li>Y->F at 1218: No effect on EGFR-mediated phosphorylation. No nuclear colocalization of MUC1CT and CTNNB1</li><li>S->A at 1223: No change in PRKCD- nor GSK3B-mediated phosphorylation</li><li>T->A at 1224: Loss of PRKCD-mediated phosphorylation. Decreased PRKCD binding. No increased binding to CTNNB1 in the prescence of autophosphorylated PRKCD. Increases formation of E-cadherin/beta-catenin complex</li><li>S->A at 1227: No change in PRKCD-mediated phosphorylation. Loss of GSK3B-mediated phosphorylation. CTNNB1</li><li>Y->F at 1229: Greatly reduced EGFR- and Src-mediated phosphorylation. No nuclear localization of MUC1CT. Reduced in vitro PDGFR-mediated phosphorylation. Decreased Src-binding</li><li>Y->N at 1229: No effect on endocytosis</li><li>Y->N at 1243: Reduces binding to AP1S2 by 33%. Greatly reduced binding to GRB2. Reduced endocytosis by 50%. Reduced endocytosis by 77%; when associated with N-1203</li></ul>	<li>V->M at 1117</li><li>S->N at 1142</li>	<li>phosphorylation</li><li>endocytosis</li><li>localization</li>	<li>GO:0016310</li><li>GO:0006897</li><li>GO:0051179</li>	binding	GO:0005488	intracellular	GO:0005622	<li>P04196</li><li>Q02297</li><li>Q5YJC2</li><li>Q8SPJ1</li><li>Q28640</li><li>P13387</li><li>P35223</li><li>Q9WUD9</li><li>P35222</li><li>P35224</li><li>Q07883</li><li>P62993</li><li>Q29435</li><li>Q5PU49</li><li>P33433</li><li>Q02248</li><li>P49841</li><li>P55245</li><li>P43322</li><li>P14923</li><li>P15941</li><li>Q05655</li><li>Q60528</li><li>Q9WU82</li><li>P05480</li><li>Q5R4J7</li><li>P56377</li><li>P08640</li><li>P26233</li><li>P00533</li><li>P61966</li>			3
P15976	2623	<ul><li>K->R at 137: Abolishes sumoylation</li><li>S->A at 142: Loss of sumoylation</li><li>S->D at 142: Increased sumoylation in vitro</li><li>C->R at 204: Increase of dissociation rate from bound DNA</li></ul>	<li>V->M at 205: in XDAT; severe impairment of ZFPM1 binding and erythroid differentiation in vitro, MIM: 300367</li><li>G->S at 208: in XDAT; partially disrupts the interaction with ZFPM1, MIM: 300367</li><li>R->Q at 216: in XLTT; does not affect ZFPM1 binding; reduced affinity to palindromic GATA sites; supports erythroid maturation less efficiently than wild-type GATA1, MIM: 314050</li><li>D->G at 218: in XDAT; partially disrupts the interaction with ZFPM1, MIM: 300367</li><li>D->Y at 218: in XDAT; stronger loss of affinity than of G-218-GATA1 for ZFPM1 and disturbed GATA1 self-association, MIM: 300367</li>	sumoylation	GO:0016925	binding	GO:0005488			<li>P49604</li><li>Q8LAU9</li><li>P17678</li><li>P15976</li><li>Q8IX07</li>	<li>X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]</li><li>X-linked thrombocytopenia with beta-thalassemia (XLTT) [MIM:314050]</li>		3
P16050	246	<ul><li>M->V at 418: Catalyzes 15- and 12-lipoxygenation</li></ul>	<li>D->H at 90: in dbSNP:rs11568142</li><li>G->V at 102: in dbSNP:rs41439950</li><li>N->K at 103: in dbSNP:rs11568099</li><li>R->Q at 205: in dbSNP:rs11568101</li><li>V->M at 239: in dbSNP:rs3892408</li><li>A->P at 461: in dbSNP:rs17852628</li><li>T->M at 560: in dbSNP:rs34210653</li>									<li>rs34210653</li><li>rs11568142</li><li>rs11568101</li><li>rs17852628</li><li>rs3892408</li><li>rs11568099</li><li>rs41439950</li>	3
P16083	4835	<ul><li>N->H at 162: Loss of activity toward CB1954, no effect toward menadione</li></ul>	<li>K->R at 16: in dbSNP:rs28383623</li><li>E->G at 29: in dbSNP:rs17136117</li><li>F->L at 47: in dbSNP:rs1143684</li><li>G->D at 58: in dbSNP:rs17300141</li><li>V->A at 184: in dbSNP:rs28383651</li>									<li>rs17136117</li><li>rs17300141</li><li>rs1143684</li><li>rs28383623</li><li>rs28383651</li>	3
P16104	3014	<ul><li>Q->N at 141: Reduced phosphorylation of S-140 in response to DNA damage</li></ul>		phosphorylation	GO:0016310								1
P16157	286	<ul><li>T->P at 1824: Abolishes interaction with OBSCN (in isoform Mu17)</li><li>K->E at 1826: Abolishes interaction with OBSCN (in isoform Mu17)</li><li>R->G at 1829: Abolishes interaction with OBSCN (in isoform Mu17)</li><li>K->E at 1830: Abolishes interaction with OBSCN (in isoform Mu17)</li></ul>	<li>R->T at 21</li><li>L->R at 276: in SPH1</li><li>D->H at 332: in a breast cancer sample; somatic mutation</li><li>V->I at 463: in SPH1, MIM: 182900</li><li>R->H at 619: in Brueggen; dbSNP:rs2304877, MIM: 182900</li><li>L->I at 733: in dbSNP:rs11778936, MIM: 182900</li><li>V->A at 750, MIM: 182900</li><li>D->E at 845, MIM: 182900</li><li>V->L at 991, MIM: 182900</li><li>I->T at 1054: in SPH1, MIM: 182900</li><li>T->I at 1075: in dbSNP:rs35213384, MIM: 182900</li><li>A->P at 1126: in dbSNP:rs504465, MIM: 182900</li><li>T->P at 1192: in dbSNP:rs486770, MIM: 182900</li><li>E->D at 1286, MIM: 182900</li><li>M->V at 1325: in dbSNP:rs10093583, MIM: 182900</li><li>S->T at 1392, MIM: 182900</li><li>V->I at 1546: in dbSNP:rs1060130, MIM: 182900</li><li>D->N at 1592: in Duesseldorf, MIM: 182900</li>							<li>Q06160</li><li>Q5VST9</li>	Hereditary spherocytosis (HS) [MIM:182900]	<li>rs1060130</li><li>rs504465</li><li>rs2304877</li><li>rs10093583</li><li>rs35213384</li><li>rs11778936</li><li>rs486770</li>	3
P16442	28	<ul><li>M->T,V at 214: Alters substrate specificity so that both UDP-N-acetyl-D-galactosamine and UDP-galactose are utilized</li><li>P->S at 234: Alters substrate specificity of group B transferase</li><li>E->A at 303: Decreases specific activity of group B transferase almost to zero</li></ul>	<li>G->R at 35: in dbSNP:rs8176696</li><li>V->F at 36: in dbSNP:rs688976</li><li>R->H at 63: in dbSNP:rs549446</li><li>P->S at 74: in dbSNP:rs512770</li><li>CR->W at 80-81</li><li>P->L at 156: in allele A2; dbSNP:rs1053878</li><li>R->H at 161: in dbSNP:rs8176738</li><li>T->M at 163: in allele Aw08</li><li>R->G at 176: in group B transferase; dbSNP:rs7853989</li><li>R->W at 198: in allele Aw07</li><li>R->C at 199: in dbSNP:rs8176739</li><li>M->R at 214: in allele Bel01; loss of manganese binding and reduced catalytic activity</li><ul><li>M->T,V at 214: Alters substrate specificity so that both UDP-N-acetyl-D-galactosamine and UDP-galactose are utilized</li></ul><li>F->I at 216: in dbSNP:rs8176740</li></ul><li>E->D at 223: in allele B106</li></ul><li>G->R at 230: in group B transferase; lower-level protein expression and intracellular cytoplasmic mislocation</li></ul><li>G->S at 235: in group B transferase; dbSNP:rs8176743</li></ul><li>P->L at 257: in dbSNP:rs8176745</li></ul><li>L->M at 266: in group B transferase; important for the specificity; dbSNP:rs8176746</li></ul><li>G->A at 268: in group B transferase; important for the specificity; dbSNP:rs8176747</li></ul><li>G->R at 268: in dbSNP:rs8176747</li></ul><li>V->M at 277: in dbSNP:rs8176748</li></ul><li>M->R at 288</li></ul><li>D->N at 291: in allele B104</li></ul><li>K->M at 346: in allele Bw08</li></ul><li>R->G at 352: in allele A107: in dbSNP rsrs56202119</li></ul><li>R->W at 352: in allele A106 and allele B3</li></ul>			<li>manganese binding</li><li>catalytic activity</li>	<li>GO:0030145</li><li>GO:0003824</li>	intracellular	GO:0005622			<li>rs8176739</li><li>rs56202119</li><li>rs549446</li><li>rs8176738</li><li>rs8176696</li><li>rs8176747</li><li>rs8176748</li><li>rs8176745</li><li>rs8176740</li><li>rs688976</li><li>rs512770</li>	4
P16444	1800	<ul><li>E->D,C at 141: Complete loss of activity</li><li>E->Q at 141: Partial loss of activity</li></ul>	<li>R->H at 246: in a colorectal cancer sample; somatic mutation</li>										3
P16455	4255	<ul><li>Y->A at 114: Decreases activity towards methylated DNA over 1000-fold. Slightly reduced reactivity with O6-benzylguanine</li><li>Y->E at 114: Loss of DNA repair activity. Slightly reduced reactivity with O6-benzylguanine</li><li>R->A,D at 128: Decreases activity towards methylated DNA over 1000-fold. No effect on reactivity with O6-benzylguanine</li><li>R->G at 128: Loss of DNA repair activity</li><li>R->K,L at 128: Slightly reduced DNA repair activity</li><li>P->K at 138: Decreased reactivity with O6-benzylguanine</li><li>P->A at 140: Decreased reactivity with O6-benzylguanine</li><li>C->A at 145: Loss of DNA repair activity</li><li>G->A at 156: Decreased reactivity with O6-benzylguanine</li><li>Y->A at 158: Reduced DNA repair activity. Decreased reactivity with O6-benzylguanine</li><li>Y->F at 158: Slightly reduced DNA repair activity</li></ul>	<li>E->K at 30: in dbSNP:rs2020893</li><li>P->S at 58: in dbSNP:rs2308322</li><li>W->C at 65: in dbSNP:rs2282164</li><li>L->F at 84: in dbSNP:rs12917</li><li>I->V at 143: in dbSNP:rs2308321</li><li>G->R at 160: in dbSNP:rs2308318</li><li>E->D at 166: in dbSNP:rs2308320</li><li>K->R at 178: in dbSNP:rs2308327</li>	DNA repair	GO:0006281							<li>rs12917</li><li>rs2308320</li><li>rs2282164</li><li>rs2308318</li><li>rs2020893</li><li>rs2308327</li><li>rs2308322</li><li>rs2308321</li>	3
P16930	2184	<ul><li>Q->R at 279: Lower activity</li></ul>	<li>N->I at 16: in TYRO1; loss of activity, MIM: 276700</li><li>F->C at 62: in TYRO1; loss of activity, MIM: 276700</li><li>Q->H at 64: in TYRO1; many patients of Pakistani origin, MIM: 276700</li><li>A->D at 134: in TYRO1; chronic; loss of activity, MIM: 276700</li><li>G->D at 158: in TYRO1, MIM: 276700</li><li>V->G at 166: in TYRO1, MIM: 276700</li><li>C->R at 193: in TYRO1; loss of activity, MIM: 276700</li><li>G->D at 207: in TYRO1, MIM: 276700</li><li>D->V at 233: in TYRO1; loss of activity; many patients of Turkish origin, MIM: 276700</li><li>W->G at 234: in TYRO1; loss of activity, MIM: 276700</li><li>P->T at 249: in TYRO1, MIM: 276700</li><li>P->L at 261: in TYRO1, MIM: 276700</li><li>T->P at 294: in TYRO1, MIM: 276700</li><li>G->S at 337: in TYRO1, MIM: 276700</li><li>R->W at 341: in TYRO1 and FAH pseudodeficiency; lower activity; dbSNP:rs11555096, MIM: 276700</li><li>P->L at 342: in TYRO1; chronic; loss of activity, MIM: 276700</li><li>Missing  at 366: in TYRO1, MIM: 276700</li><li>G->V at 369: in TYRO1, MIM: 276700</li><li>R->G at 381: in TYRO1; loss of activity, MIM: 276700</li><li>F->H at 405: in TYRO1; requires 2 nucleotide substitutions, MIM: 276700</li>							P16930	Tyrosinemia type 1 (TYRO1) [MIM:276700]	rs11555096	3
P17081	23433	<ul><li>T->N at 23: Loss of interaction with GOPC</li><li>D->A at 44: Loss of interaction with GOPC</li><li>Q->L at 67: Constitutively active. Interacts with PARD6 proteins and GOPC</li></ul>								<li>Q9HD26</li><li>Q5RD32</li>			1
P17213	671	<ul><li>S->C at 49: No impairment of secretion and increased propensity for dimer formation</li><li>C->A at 163: No impairment of secretion and/or biological actvity. Loss of dimer formation</li><li>C->S at 166: Poorly secreted. Loss of LPS-binding and biological activity</li><li>C->A at 206: Not secreted</li></ul>	<li>A->T at 12: in dbSNP:rs5743497</li><li>A->V at 12: in dbSNP:rs5743498</li><li>A->V at 16: in dbSNP:rs1341023</li><li>R->C at 90: in dbSNP:rs5743500</li><li>K->E at 123: in dbSNP:rs5743542</li><li>E->Q at 140: in dbSNP:rs5743506</li><li>A->V at 196: in dbSNP:rs5743509</li><li>E->K at 216: in dbSNP:rs4358188</li><li>A->V at 280: in dbSNP:rs5741804</li><li>V->I at 377: in dbSNP:rs5743524</li><li>N->D at 404: in dbSNP:rs5741809</li><li>K->E at 451: in dbSNP:rs5743542</li>	secretion	GO:0046903	LPS-binding	GO:0001530					<li>rs1341023</li><li>rs4358188</li><li>rs5741809</li><li>rs5743500</li><li>rs5741804</li><li>rs5743509</li><li>rs5743524</li><li>rs5743542</li><li>rs5743498</li><li>rs5743506</li><li>rs5743497</li>	3
P17707	262	<ul><li>F->A at 7: No effect</li><li>E->Q at 8: Loss of activity. Normal putrescine-stimulated processing</li><li>E->Q at 11: Loss of activity. Loss of putrescine-stimulated processing</li><li>E->Q at 15: Little effect</li><li>C->A at 49: Little effect</li><li>E->Q at 61: Little effect</li><li>E->Q at 67: Little effect</li><li>K->A at 80: Greatly reduced catalytic activity. No putrescine-stimulated processing</li><li>C->A at 82: Loss of activity. Greatly reduced putrescine-stimulated processing</li><li>F->A at 223: No effect</li><li>C->A at 226: Little effect</li><li>S->A at 229: Loss of processing</li><li>S->C at 229: Greatly reduced processing</li><li>S->T at 229: Greatly reduced catalytic activity but little effect on processing</li><li>H->A at 243: Greatly reduced catalytic activity and processing</li><li>H->E at 243: Greatly reduced catalytic activity and processing</li><li>H->F at 243: Loss of processing</li><li>H->Y at 243: Loss of processing</li><li>E->Q at 247: Little effect</li><li>E->Q at 249: Little effect</li></ul>				catalytic activity	GO:0003824						1
P17948	2321	<ul><li>Y->F at 914: No loss of phosphorylation</li><li>Y->F at 1213: Loss of phosphorylation</li><li>Y->F at 1242: Loss of phosphorylation</li><li>Y->F at 1327: Loss of phosphorylation</li><li>Y->F at 1333: Loss of phosphorylation</li></ul>	<li>K->T at 60: in dbSNP rsrs56409818</li><li>I->L at 128: in dbSNP:rs35073261</li><li>E->K at 144: in dbSNP rsrs55974987</li><li>R->Q at 281: in dbSNP rsrs55687105</li><li>L->I at 422: in a lung adenocarcinoma sample; somatic mutation</li><li>R->Q at 781: in a glioma low grade oligodendroglioma sample; somatic mutation</li><li>M->V at 938: in dbSNP rsrs35549791</li><li>E->A at 982: in dbSNP:rs35832528</li><li>L->V at 1061: in a bladder transitional cell carcinoma sample; somatic mutation</li>	phosphorylation	GO:0016310							<li>rs55974987</li><li>rs35832528</li><li>rs35549791</li><li>rs55687105</li><li>rs35073261</li><li>rs56409818</li>	3
P17980	5702	<ul><li>K->H at 233: Loss of function</li><li>D->A at 289: Loss of function</li></ul>											1
P18031	5770	<ul><li>S->A,D at 50: No phosphorylation</li></ul>	<li>G->S at 381: in dbSNP:rs16995304</li><li>P->L at 387: associated with low glucose tolerance; dbSNP:rs16995309</li>	phosphorylation	GO:0016310							<li>rs16995309</li><li>rs16995304</li>	3
P18074	2068	<ul><li>K->R at 48: Decreased transcriptional activity of the reconstituted TFIIH complex</li></ul>	<li>G->R at 47: in XP-D, MIM: 278730</li><li>T->A at 76: in XP-D, MIM: 278730</li><li>R->H at 112: in TTDP and XP-D, MIM: 278730</li><li>I->M at 199: in dbSNP:rs1799791, MIM: 278730</li><li>H->Y at 201: in dbSNP:rs1799792, MIM: 278730</li><li>D->N at 234: in XP-D, MIM: 278730</li><li>C->Y at 259: in TTDP, MIM: 601675</li><li>D->N at 312: in dbSNP:rs1799793, MIM: 601675</li><li>L->V at 461: in XP-D and TTDP, MIM: 278730</li><li>Missing  at 482: in TTDP, MIM: 278730</li><li>L->P at 485: in XP-D; the corresponding mutation in fission yeast causes complete loss of activity, MIM: 278730</li><li>R->G at 487: in TTDP, MIM: 601675</li><li>Missing  at 488-493: in TTDP; mild, MIM: 601675</li><li>R->Q at 511: in XP-D, MIM: 278730</li><li>S->R at 541: in XP-D; mild, MIM: 278730</li><li>Y->C at 542: in XP-D, MIM: 278730</li><li>EK->VSE at 582-583: in XP-D, MIM: 278730</li><li>R->P at 592: in TTDP, MIM: 601675</li><li>A->P at 594: in TTDP, MIM: 601675</li><li>R->L at 601: in XP-D, MIM: 278730</li><li>R->W at 601: in XP-D, MIM: 278730</li><li>G->D at 602: in XP-D; combined with features of Cockayne syndrome, MIM: 278730</li><li>R->C at 616, MIM: 278730</li><li>R->P at 616: in XP-D and TTDP, MIM: 278730</li><li>R->W at 616: in XP-D and COFS2, MIM: 278730</li><li>R->C at 658: in TTDP, MIM: 601675</li><li>R->G at 658: in TTDP, MIM: 601675</li><li>R->H at 658: in TTDP, MIM: 601675</li><li>C->R at 663: in TTDP, MIM: 601675</li><li>R->W at 666: in XP-D, MIM: 278730</li><li>D->G at 673: in TTDP, MIM: 601675</li><li>G->R at 675: in XP-D/CS; severe form, MIM: 601675</li><li>D->N at 681: in XP-D and COFS2, MIM: 278730</li><li>R->Q at 683: in XP-D; CNS, MIM: 278730</li><li>R->W at 683: in XP-D; CNS; vitamin D-mediated activation of CYP24A1 is impaired in patient fibroblasts due to altered TFIIH-dependent phosphorylation of ETS1, subsequent impaired cooperation of ETS1 with VDR and altered VDR recruitement to CYP24A1 promoter: in dbSNP rsrs41556519, MIM: 278730</li><li>G->R at 713: in TTDP, MIM: 601675</li><li>Missing  at 716-730: in XP-D and TTDP, MIM: 601675</li><li>R->W at 722: in TTDP, MIM: 601675</li><li>A->P at 725: in TTDP, MIM: 601675</li><li>K->Q at 751: may be linked to a reduced activity; dbSNP:rs13181, MIM: 601675</li>	phosphorylation	GO:0016310					<li>P13053</li><li>P13474</li><li>P11473</li><li>O42392</li><li>Q95MH5</li><li>Q28037</li><li>O13124</li><li>P15062</li><li>P14921</li><li>P49701</li><li>P48281</li><li>Q07973</li>	<li>Trichothiodystrophy photosensitive (TTDP) [MIM:601675]</li><li>Cerebro-oculo-facio-skeletal syndrome type 2 (COFS2) [MIM:610756]</li><li>Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]</li>	<li>rs1799791</li><li>rs1799792</li><li>rs1799793</li><li>rs41556519</li><li>rs13181</li>	3
P18440	9	<ul><li>R->A,M,Q,K at 64: Reduced enzymatic activity</li></ul>	<li>R->W at 64: in allele NAT1*17; a slow acetylator; has defective enzyme activity; dbSNP:rs56379106</li><ul><li>R->A,M,Q,K at 64: Reduced enzymatic activity</li></ul><li>R->T at 117: in allele NAT1*5; dbSNP:rs55641436</li></ul><li>V->I at 149: in allele NAT1*11; catalyzes the N-acetylation of aromatic amines and the O- and N,O-acetylation of their N-hydroxylated metabolites at rates up to 2-fold higher; dbSNP:rs4987076</li></ul><li>RE->TQ at 166-167: in allele NAT1*5</li></ul><li>R->Q at 187: in allele NAT1*14; a slow acetylator; dbSNP:rs4986782</li></ul><li>M->V at 205: in allele NAT1*21</li></ul><li>T->I at 207: in dbSNP:rs4987195</li></ul><li>S->A at 214: in allele NAT1*11; dbSNP:rs4986783</li></ul><li>D->V at 251: in allele NAT1*22; dbSNP:rs56172717</li></ul><li>E->K at 261: in allele NAT1*24</li></ul><li>I->V at 263: in allele NAT1*25</li></ul>							<li>P18605</li><li>P23975</li><li>P18440</li><li>P79398</li><li>P12945</li><li>P50292</li><li>Q99624</li>		<li>rs55641436</li><li>rs56379106</li><li>rs4987076</li><li>rs4987195</li><li>rs56172717</li><li>rs4986782</li><li>rs4986783</li>	4
P18615	7936	<ul><li>RNCAF->EQMAT at 295-299: Abolishes interaction with RNA but not the interaction with other proteins of the NELF complex</li></ul>								Q6X4W1			1
P18850	22926	<ul><li>N->F at 391: Loss of proteolytic cleavage; when associated with L-394</li><li>P->L at 394: Loss of proteolytic cleavage; when associated with F-391</li><li>RR->AA at 415-416: Reduces proteolytic cleavage</li><li>L->V at 419: Reduces proteolytic cleavage</li></ul>	<li>M->L at 67: in dbSNP:rs1058405</li><li>M->V at 67: in dbSNP:rs1058405</li><li>A->P at 145: in dbSNP:rs2070150</li><li>P->S at 157: in dbSNP:rs1135983</li>									<li>rs1135983</li><li>rs2070150</li><li>rs1058405</li>	3
P19235	2057	<ul><li>T->A at 114: Little effect on EPO binding</li><li>S->A at 115: Little effect on EPO binding</li><li>S->A at 116: 10-fold reduction in EPO binding</li><li>F->A,L at 117: Greatly reduced EPO binding</li><li>F->W at 117: 60-fold reduction in EPO binding</li><li>F->Y at 117: 8-fold reduction in EPO binding</li><li>V->A at 118: 16-fold reduction in EPO binding</li><li>L->A at 120: Some reduction in EPO binding</li><li>E->A at 121: Little effect on EPO binding</li><li>R->A at 165: Little effect on EPO binding</li><li>M->A at 174: Little effect on EPO binding</li><li>S->A at 176: 16-fold reduction in EPO binding</li><li>H->A at 177: Little effect on EPO binding</li><li>R->A at 179: Little effect on EPO binding</li><li>Y->F at 454: Some loss of SOCS3 binding</li><li>Y->F at 456: Inhibition of STAT1/STAT3 activity. No effect on STAT5 activity. Some loss of SOCS3 binding</li><li>Y->F at 468: No effect on STAT1/STAT3 nor STAT5 activity</li></ul>	<li>P->A at 380: in dbSNP:rs35423344</li><li>N->S at 487: in ECYT1 and erythroleukemia, MIM: 133100</li><li>P->S at 488: in ECYT1, MIM: 133100</li>			binding	GO:0005488			<li>P42224</li><li>P61635</li><li>P07865</li><li>P42229</li><li>P49157</li><li>Q6H8T2</li><li>Q6H8T1</li><li>Q90X67</li><li>Q28513</li><li>Q764M5</li><li>P49290</li><li>P33709</li><li>P42231</li><li>Q9BEG9</li><li>Q9GKA2</li><li>Q68AM8</li><li>Q867B1</li><li>P48617</li><li>P33707</li><li>P33708</li><li>P11678</li><li>P80550</li><li>P01588</li><li>Q6H8S9</li><li>P40763</li><li>O14543</li>	Erythrocytosis familial type 1 (ECYT1) [MIM:133100]	rs35423344	3
P19419	2002	<ul><li>K->R at 230: 9-fold increase in transcriptional activator activity; when associated with R-249. Reduction in sumoylation</li><li>K->R at 249: 9-fold increase in transcriptional activator activity; when associated with R-230. Reduction in sumoylation</li><li>K->R at 254: Reduction in sumoylation</li><li>S->A at 324: No effect on ternary complex formation</li><li>T->A at 336: No effect on ternary complex formation</li><li>T->A at 353: No effect on ternary complex formation</li><li>T->A at 363: No effect on ternary complex formation</li><li>T->A at 368: No effect on ternary complex formation</li><li>S->A at 383: 17% reduction in ternary complex formation</li><li>S->A at 389: 34% reduction in ternary complex formation</li><li>T->A at 417: No effect on ternary complex formation</li><li>S->A at 422: Slight reduction in ternary complex formation</li></ul>	<li>G->S at 144: in dbSNP:rs1997639</li><li>S->N at 183: in dbSNP:rs1059579</li>	sumoylation	GO:0016925	transcriptional activator activity	GO:0016563					<li>rs1997639</li><li>rs1059579</li>	3
P19440	2678	<ul><li>K->N at 100: No effect on activity</li><li>E->Q at 102: No effect on activity</li><li>R->K at 107: Reduces enzyme activity by 99%</li><li>R->Q,H at 107: Abolishes enzyme activity</li><li>E->Q at 108: Reduces enzyme activity by 98%</li><li>R->Q at 112: No effect on activity</li><li>R->Q at 139: No effect on activity</li><li>R->Q at 147: No effect on activity</li><li>R->Q at 150: No effect on activity</li><li>H->A at 383: Reduces enzyme activity by 66%</li><li>S->A at 385: No effect on activity</li><li>S->A at 413: No effect on activity</li><li>D->A at 422: Reduces enzyme activity by 90%</li><li>D->A at 423: Abolishes enzyme activity. Increases KM by over 1000-fold</li><li>S->A at 425: No effect on activity</li><li>S->A at 451: Reduces enzyme activity by 99%. Abolishes activity; when associated with A-452</li><li>S->A at 452: Reduces enzyme activity by 99%. Abolishes activity; when associated with A-451</li><li>C->A at 454: No effect on activity</li><li>H->A at 505: Reduces enzyme activity by 90%</li></ul>	<li>S->L at 51: in dbSNP:rs2330837</li><li>K->E at 52: in dbSNP:rs2330838</li><li>A->V at 177: in dbSNP:rs3895576</li><li>V->A at 272: in dbSNP:rs4049829</li><li>N->D at 419: in dbSNP:rs17004876</li><li>V->A at 435: in dbSNP:rs16986465</li>									<li>rs17004876</li><li>rs4049829</li><li>rs2330838</li><li>rs16986465</li><li>rs2330837</li><li>rs3895576</li>	3
P19447	2071	<ul><li>K->R at 346: No transcriptional activity of the reconstituted TFIIH complex</li></ul>	<li>F->S at 99: in XP-B; combined with features of Cockayne syndrome; mild, MIM: 610651</li><li>K->R at 117: in dbSNP:rs1805161, MIM: 610651</li><li>T->P at 119: in TTDP; mild, MIM: 601675</li><li>G->C at 402: in dbSNP:rs1805162, MIM: 601675</li><li>K->Q at 418: in a breast cancer sample; somatic mutation, MIM: 601675</li><li>S->L at 704: in dbSNP:rs4150521, MIM: 601675</li><li>S->P at 735: in dbSNP:rs4150522, MIM: 601675</li>								<li>Trichothiodystrophy photosensitive (TTDP) [MIM:601675]</li><li>Xeroderma pigmentosum complementation group B (XP-B) [MIM:610651]</li>	<li>rs4150522</li><li>rs4150521</li><li>rs1805161</li><li>rs1805162</li>	3
P19525	5610	<ul><li>SK->AA at 59-60: In FL-PKR-2AI; moderate loss of activity but no effect on dsRNA binding</li><li>K->A at 60: Impairs dsRNA binding but not dimerization or activity</li><li>A->E at 67: Significant loss of activity; loss of dsRNA binding and dimerization</li><li>S->A at 83: No effect on enzymatic activity; when associated with A-88; A-89 and A-90</li><li>T->A at 88: No effect on enzymatic activity; when associated with A-83; A-89 and A-90</li><li>T->A at 89: No effect on enzymatic activity; when associated with A-83; A-88 and A-90</li><li>T->A at 90: No effect on enzymatic activity; when associated with A-83; A-88 and A-89</li><li>TK->AA at 149-150: In FL-PKR-2AII; no effect on activity</li><li>S->A at 242: Moderate loss of activity; when associated with A-255 and A-258</li><li>Missing at 244-296: Loss of activity</li><li>T->A at 255: Moderate loss of activity; when associated with A-242 and A-255</li><li>T->A at 258: Moderate loss of activity</li><li>K->R at 296: Loss of activity</li><li>T->A at 446: Significant loss of activity and impairs autophosphorylation of T-451</li><li>T->A at 451: Loss of activity</li></ul>	<li>V->E at 428: in dbSNP rsrs56219559</li><li>L->V at 439: in a lung adenocarcinoma sample; somatic mutation</li><li>I->V at 506: in dbSNP rsrs34821155</li>	autophosphorylation	GO:0046777	binding	GO:0005488			<li>P19525</li><li>Q03963</li>		<li>rs56219559</li><li>rs34821155</li>	3
P19634	6548	<ul><li>F->C at 155: Almost complete loss of activity</li><li>L->C at 156: Almost complete loss of activity</li><li>Q->C at 157: Reduces activity</li><li>S->C at 158: Almost complete loss of activity</li><li>D->C at 159: Almost complete loss of activity</li><li>V->C at 160: Reduces activity</li><li>F->C at 161: Reduces activity</li><li>F->C at 162: Almost complete loss of activity</li><li>L->C at 163: Reduces activity</li><li>F->C at 164: Almost complete loss of activity</li><li>L->C at 165: Reduces activity</li><li>L->C at 166: Reduces activity</li><li>P->A at 167: Reduces activity</li><li>P->C,G at 167: Almost complete loss of activity. Reduces membrane localization</li><li>P->A,C at 168: Almost complete loss of activity</li><li>P->G at 168: Reduces activity</li><li>I->C at 169: Reduces activity</li><li>I->C at 170: Reduces activity</li><li>L->C at 171: Reduces activity</li><li>D->C at 172: Almost complete loss of activity</li><li>A->C at 173: Reduces activity</li><li>G->C at 174: Reduces activity</li><li>Y->C at 175: Almost complete loss of activity</li><li>F->C at 176: Almost complete loss of activity</li><li>L->C at 177: Reduces activity</li><li>P->A at 178: No effect</li><li>R->C at 180: Reduces activity</li><li>Q->C at 181: Reduces activity</li><li>I->D,K at 534: Strongly reduced interaction with CHP2</li><li>I->K at 537: Strongly reduced interaction with CHP2</li></ul>	<li>N->K at 682: in dbSNP:rs35703140</li>	localization	GO:0051179			membrane	GO:0016020	O43745		rs35703140	3
P19835	1056	<ul><li>H->Q at 455: Abolishes lipase activity. Decreases Vmax for esterase activity by 2.5-fold</li></ul>								<li>Q7M4U7</li><li>P16397</li><li>P18773</li>			1
P19838	4790	<ul><li>C->S at 61: Suppresses S-nitrosylation-induced inhibition of DNA-binding activity</li><li>S->A at 903: Prevents p105 proteolysis in response to TNF-alpha</li><li>S->A at 907: Prevents p105 proteolysis in response to TNF-alpha</li><li>S->A at 921: Decrease in stimuli-induced phosphorylation. Loss of phosphorylation; when associated with A-923 and A-932</li><li>S->A at 923: Decrease in stimuli-induced phosphorylation. Loss of phosphorylation; when associated with A-921 and A-932</li><li>S->A at 932: Decrease in stimuli-induced phosphorylation. Loss of phosphorylation; when associated with A-921 and A-923</li></ul>	<li>T->I at 489: in dbSNP rsrs4648065</li><li>M->V at 506: in dbSNP rsrs4648072</li><li>T->I at 566: in dbSNP rsrs4648085</li><li>R->K at 578: in dbSNP rsrs4648086</li><li>H->Q at 711: in dbSNP rsrs4648099</li><li>A->T at 901: in dbSNP rsrs4648118</li>	phosphorylation	GO:0016310	DNA-binding	GO:0003677			<li>Q8WNR1</li><li>P13296</li><li>Q8HZD9</li><li>P36939</li><li>P59684</li><li>Q8JFG3</li><li>O77764</li><li>P01375</li><li>Q8MKG8</li><li>Q2MH05</li><li>P04924</li><li>P33620</li><li>P79337</li><li>P23563</li><li>O35734</li><li>Q06599</li><li>Q9BEA1</li><li>P19101</li><li>P48094</li><li>Q75N23</li><li>Q9Y7R3</li><li>P52590</li><li>Q1G1A2</li><li>P16599</li><li>P59695</li><li>P59694</li><li>P59693</li><li>Q539C2</li><li>P51435</li><li>P06804</li><li>Q14511</li><li>P29553</li><li>P41895</li><li>Q19LH4</li><li>P55290</li><li>O49160</li><li>O77510</li><li>P51742</li><li>P23383</li><li>P51743</li><li>O35177</li><li>Q1WM27</li><li>P79374</li>		<li>rs4648099</li><li>rs4648072</li><li>rs4648118</li><li>rs4648065</li><li>rs4648086</li><li>rs4648085</li>	3
P20138	945	<ul><li>Y->A at 340: Abolishes binding to PTPN6 and PTPN11. Increases binding of red blood cells</li><li>Y->A,F at 358: Reduces binding to PTPN6</li></ul>	<li>A->V at 14: in dbSNP:rs12459419</li><li>W->R at 22: in dbSNP:rs35814802</li><li>R->G at 69: in dbSNP:rs2455069</li><li>S->N at 128: in dbSNP:rs34919259</li><li>R->W at 202: in dbSNP:rs4082929</li><li>I->L at 242: in dbSNP:rs988337</li><li>F->L at 243: in dbSNP:rs11882250</li><li>V->L at 294: in dbSNP:rs2271652</li><li>G->R at 304: in dbSNP:rs35112940</li><li>T->A at 331: in dbSNP:rs35632246</li>			binding	GO:0005488			<li>P29350</li><li>Q06124</li><li>Q90687</li>		<li>rs4082929</li><li>rs2455069</li><li>rs11882250</li><li>rs12459419</li><li>rs35112940</li><li>rs35814802</li><li>rs988337</li><li>rs34919259</li><li>rs35632246</li><li>rs2271652</li>	3
P20160	566	<ul><li>C->S at 52: Loss of antibiotic activity</li><li>C->S at 68: Loss of antibiotic activity</li></ul>	<li>Missing  at 248: in 50% of the molecules</li>										3
P20309	1131	<ul><li>E->A at 276: Loss of basolateral sorting</li><li>E->D at 276: Loss of basolateral sorting. No effect on basolateral sorting; when associated with L-280 and L-281</li><li>F->A at 280: Loss of basolateral sorting</li><li>F->L at 280: No effect on basolateral sorting</li><li>V->A at 281: Loss of basolateral sorting</li><li>V->L at 281: No effect on basolateral sorting</li></ul>	<li>V->I at 65: in dbSNP:rs2067481</li><li>L->P at 431: in dbSNP:rs16839102</li>									<li>rs16839102</li><li>rs2067481</li>	3
P20472	5816	<ul><li>D->A at 52: Inactivation</li><li>E->V at 63: Inactivation</li><li>D->A at 91: Inactivation</li><li>E->V at 102: Inactivation</li></ul>											1
P20671	3013	<ul><li>S->A at 2: Blocks the inhibition of transcription by RPS6KA5/MSK1</li></ul>		transcription	GO:0006350					<li>P32048</li><li>Q5F3L1</li><li>Q5R4K3</li><li>O75582</li>			1
P21397	4128	<ul><li>C->S at 165: No loss of activity</li><li>C->S at 266: No loss of activity</li><li>C->S at 306: No loss of activity</li><li>C->S at 321: No loss of activity</li><li>C->S at 323: No loss of activity</li><li>C->S at 374: Complete loss of activity</li><li>C->S at 398: No loss of activity</li><li>C->S at 406: Complete loss of activity</li></ul>	<li>D->E at 15: in a breast cancer sample; somatic mutation</li><li>F->V at 314: in dbSNP:rs1799835</li><li>K->R at 520: in dbSNP:rs1800466</li>									<li>rs1800466</li><li>rs1799835</li>	3
P21453	1901	<ul><li>R->A at 120: Drastically reduced affinity for sphingosine 1-phosphate</li><li>E->A at 121: Drastically reduced affinity for sphingosine 1-phosphate</li><li>E->Q at 121: Slight activation of the receptor at maximal ligand concentration</li><li>T->A at 236: Acts as a dominant negative GPCR and inhibits S1P-induced Rac activation, chemotaxis, and angiogenesis</li><li>R->A,V at 292: Drastically reduced affinity for sphingosine 1-phosphate</li></ul>	<li>S->L at 15: in dbSNP:rs4987250</li><li>A->T at 115: in dbSNP:rs11542632</li><li>P->R at 332: in dbSNP:rs7549921</li>	<li>chemotaxis</li><li>angiogenesis</li>	<li>GO:0006935</li><li>GO:0001525</li>	GPCR	GO:0004930			<li>Q9Z2A8</li><li>P31750</li><li>Q14703</li>		<li>rs11542632</li><li>rs7549921</li><li>rs4987250</li>	3
P21549	189	<ul><li>K->R at 209: Affects pyridoxal phosphate binding</li></ul>	<li>P->L at 11: common polymorphism; reduction of specific activity in vitro; causes mistargeting when associated with R-170; dbSNP:rs34116584</li><li>N->S at 22: in dbSNP:rs34885252</li><li>G->R at 41: in PH1; protein destabilization and loss of activity in the presence of L-11, MIM: 259900</li><li>G->V at 41: in PH1, MIM: 259900</li><li>G->E at 82: in PH1; abolishes catalytic activity by interfering with pyridoxal phosphate binding, MIM: 259900</li><li>E->EE at 95: in PH1, MIM: 259900</li><li>G->R at 116: in PH1, MIM: 259900</li><li>F->I at 152: in PH1; protein destabilization and loss of activity in the presence of L-11, MIM: 259900</li><li>G->R at 156: in PH1, MIM: 259900</li><li>G->R at 170: in PH1; causes mistargeting when associated with L-11, MIM: 259900</li><li>D->N at 183: in PH1, MIM: 259900</li><li>S->F at 187: in PH1, MIM: 259900</li><li>S->P at 205: in PH1, MIM: 259900</li><li>R->C at 233: in PH1, MIM: 259900</li><li>R->H at 233: in PH1, MIM: 259900</li><li>I->T at 244: in PH1; prevalent mutation in the Canary islands; protein misfolding and loss of activity when associated with P-11, MIM: 259900</li><li>A->T at 295: in dbSNP:rs13408961, MIM: 259900</li><li>I->M at 340: common polymorphism; dbSNP:rs4426527, MIM: 259900</li>			<li>pyridoxal phosphate binding</li><li>catalytic activity</li>	<li>GO:0030170</li><li>GO:0003824</li>			<li>P78364</li><li>Q9ST43</li>	Primary hyperoxaluria type I (PH1) [MIM:259900]	<li>rs34116584</li><li>rs4426527</li><li>rs13408961</li><li>rs34885252</li>	3
P21580	7128	<ul><li>C->S at 103: Loss of deubiquitinating activity</li></ul>	<li>A->V at 125: in dbSNP:rs5029941</li><li>F->C at 127: in dbSNP:rs2230926</li><li>A->P at 766: in dbSNP:rs5029957</li>									<li>rs2230926</li><li>rs5029941</li><li>rs5029957</li>	3
P21673	6303	<ul><li>Y->F at 140: Reduces activity by 95%</li></ul>											1
P21675	6872	<ul><li>S->A at 137: No decrease in kinase activity</li><li>D->A at 145: Reduces kinase activity; when associated with A-147; A-149; A-150; A-152 and A-154</li><li>D->A at 147: Reduces kinase activity; when associated with A-145; A-149; A-150; A-152 and A-154</li><li>E->A at 149: Reduces kinase activity; when associated with A-145; A-147; A-150; A-152 and A-154</li><li>D->A at 150: Reduces kinase activity; when associated with A-145; A-147; A-149; A-152 and A-154</li><li>D->A at 152: Reduces kinase activity; when associated with A-145; A-147; A-149; A-150 and A-154</li><li>K->A at 154: Reduces kinase activity; when associated with A-145; A-147; A-149; A-150 and A-152</li><li>C->A at 305: Reduces kinase activity; when associated with A-307; A-308; A-309 and A-310</li><li>S->A at 307: Reduces kinase activity; when associated with A-305; A-308; A-309 and A-310</li><li>D->A at 308: Reduces kinase activity; when associated with A-305; A-307; A-309 and A-310</li><li>D->A at 309: Reduces kinase activity; when associated with A-305; A-307; A-308 and A-310</li><li>E->A at 310: Reduces kinase activity; when associated with A-305; A-307; A-308 and A-309</li></ul>	<li>L->V at 269: in dbSNP:rs28382158</li><li>A->G at 297: in dbSNP rsrs35317750</li><li>G->D at 453: in a colorectal adenocarcinoma sample; somatic mutation</li><li>E->K at 651: in a metastatic melanoma sample; somatic mutation</li><li>M->I at 691: in a lung bronchoalveolar carcinoma sample; somatic mutation</li><li>V->I at 1383: in dbSNP:rs7050748</li>			kinase activity	GO:0016301					<li>rs35317750</li><li>rs7050748</li><li>rs28382158</li>	3
P21731	6915	<ul><li>L->R at 291: Suppresses antagonist binding</li><li>R->Q at 295: Reduces antagonist binding</li><li>W->L at 299: Reduces antagonist binding</li><li>W->R at 299: Reduces antagonist binding</li></ul>	<li>R->L at 60: in bleeding disorder; defective interaction with G proteins; impairs phospholipase C and adenylyl cyclase activation; isoform 1. Has no affect on adenylyl cyclase inhibition; isoform 2: in dbSNP rsrs34377097</li><li>C->S at 68: in dbSNP:rs5743</li><li>V->E at 80: in dbSNP:rs5744</li><li>E->V at 94: in dbSNP:rs5746</li><li>A->T at 160: in dbSNP:rs5749</li><li>V->E at 176: in dbSNP:rs5750</li><li>V->I at 217: in dbSNP:rs5751</li>			binding	GO:0005488			<li>P30528</li><li>P23466</li><li>P00936</li><li>Q59685</li><li>Q9WXC3</li><li>Q99279</li><li>P0A1A7</li><li>P0A1A8</li><li>Q05766</li><li>Q57506</li><li>P40134</li><li>Q99280</li><li>P40135</li><li>Q26896</li><li>P40130</li><li>P14605</li><li>Q59119</li><li>P40136</li><li>P26338</li><li>P43524</li><li>P27580</li><li>P08678</li><li>P40127</li><li>Q03101</li><li>Q8XAP1</li><li>Q03100</li><li>Q8FBP0</li><li>P0A4Y1</li><li>P0A4Y0</li><li>P15318</li><li>Q01513</li><li>P59739</li><li>P49606</li><li>Q26721</li><li>Q25263</li><li>Q01631</li><li>Q99396</li><li>Q27675</li>		<li>rs5749</li><li>rs5751</li><li>rs5750</li><li>rs34377097</li><li>rs5743</li><li>rs5744</li><li>rs5746</li>	3
P21918	1816	<ul><li>N->Q at 7: Impairs subcellular location</li></ul>	<li>C->S at 62: in dbSNP:rs2227840</li><li>L->R at 88: in dbSNP:rs6282</li><li>G->E at 110: in dbSNP:rs2227849</li><li>F->V at 207: in dbSNP:rs2227845</li><li>S->N at 233: in dbSNP:rs2227843</li><li>V->I at 238: in dbSNP:rs2227852</li><li>R->H at 247: in dbSNP:rs2227847</li><li>A->V at 269: in dbSNP:rs2227842</li><li>A->V at 286: in dbSNP:rs2227850</li><li>P->Q at 330: in dbSNP:rs1800762</li><li>N->D at 351</li><li>S->C at 453</li>									<li>rs2227845</li><li>rs2227842</li><li>rs2227843</li><li>rs1800762</li><li>rs2227849</li><li>rs2227847</li><li>rs2227850</li><li>rs2227852</li><li>rs6282</li><li>rs2227840</li>	3
P21926	928	<ul><li>C->A at 9: Loss of palmitoylation; when associated with A-78; A-79; A-87; A-218 and A-219</li><li>C->A at 78: Loss of palmitoylation; when associated with A-9; A-79; A-87; A-218 and A-219</li><li>C->A at 79: Loss of palmitoylation; when associated with A-9; A-78; A-87; A-218 and A-219</li><li>C->A at 87: Loss of palmitoylation; when associated with A-9; A-78; A-79; A-218 and A-219</li><li>C->A at 218: Loss of palmitoylation; when associated with A-9; A-78; A-79; A-87 and A-219</li><li>C->A at 219: Loss of palmitoylation; when associated with A-9; A-78; A-79; A-87 and A-218</li></ul>											1
P22064	4052												P22234	10606	<ul><li>H->Y at 303: Loss of AIR carboxylase activity</li><li>S->A at 332: Loss of AIR carboxylase activity</li><li>G->A at 334: Loss of AIR carboxylase activity</li><li>S->A at 400: No change of AIR carboxylase activity</li></ul>	<li>K->N at 201: in dbSNP:rs11549976</li>							<li>O74197</li><li>O28997</li><li>Q01930</li><li>Q49WI9</li><li>O06456</li><li>O06457</li><li>Q5HQA5</li><li>Q58033</li><li>Q5KGS6</li><li>P21264</li><li>P55195</li><li>Q8FYW3</li><li>P50504</li><li>Q54975</li><li>Q9KVT7</li><li>O58058</li><li>Q9KVT8</li><li>P43850</li><li>P38024</li><li>Q44678</li><li>O66608</li><li>Q44679</li><li>P74724</li><li>P65898</li><li>P65899</li><li>Q55498</li><li>O67239</li><li>Q4L574</li><li>Q7A695</li><li>P43849</li><li>P96880</li><li>Q9UY68</li><li>Q9DCL9</li><li>P22348</li><li>Q10457</li><li>P0AG18</li><li>P0AG19</li><li>Q5HH19</li><li>Q87KE0</li><li>Q87KE1</li><li>P72157</li><li>P72158</li><li>Q6GAE8</li><li>P41654</li><li>Q6GI19</li><li>Q7MGL1</li><li>Q7MGL2</li><li>P12045</li><li>Q9I7S8</li><li>Q5E1R4</li><li>Q5E1R3</li><li>Q8DDD7</li><li>Q8DDD8</li><li>Q8CPP2</li><li>P0C017</li><li>Q92210</li><li>P52558</li><li>P12044</li><li>Q9WYS7</li><li>P52559</li><li>Q99V32</li><li>P22234</li><li>P46701</li><li>P51583</li><li>P46702</li><li>P15567</li><li>Q8NX94</li><li>P09029</li><li>Q5RB59</li>		rs11549976	3
P22303	43	<ul><li>D->N at 206: Misfolding, absence of secretion</li><li>S->A at 234: Loss of activity</li><li>E->A at 365: Loss of activity</li><li>D->N at 435: Misfolding, absence of secretion</li><li>H->A at 478: Loss of activity</li><li>C->A at 611: Impairment of interchain disulfide bridge formation</li></ul>	<li>R->Q at 34: in dbSNP:rs17881553</li><li>P->A at 135: in dbSNP:rs17885778</li><li>V->E at 333: in dbSNP:rs8286</li><li>H->N at 353: in Yt: in dbSNP rsrs1799805</li>	secretion	GO:0046903							<li>rs17885778</li><li>rs8286</li><li>rs17881553</li><li>rs1799805</li>	3
P22307	6342	<ul><li>N->D at 528: Strongly reduces sterol carrier and phosphatidylcholine transfer activity; when associated with D-530</li><li>N->I at 528: Strongly reduces sterol carrier and phosphatidylcholine transfer activity</li><li>G->D at 530: Strongly reduces sterol carrier and phosphatidylcholine transfer activity; when associated with D-528</li></ul>	<li>A->D at 155: in a breast cancer sample; somatic mutation</li>										3
P22681	867	<ul><li>S->D at 80: Abolishes interaction with ZAP70</li><li>P->A at 82: Abolishes interaction with ZAP70</li><li>D->Q at 229: Abolishes interaction with ZAP70</li><li>E->S at 240: Abolishes interaction with ZAP70</li><li>R->K at 294: Abolishes interaction with ZAP70</li><li>G->E at 306: Abolishes interaction with ZAP70, but does not affect interaction with SLA</li><li>Y->F at 371: Strongly reduces tyrosine phosphorylation by INSR; when associated with F-700 and F-774</li><li>Y->F at 700: Strongly reduces tyrosine phosphorylation by INSR; when associated with F-371 and F-774</li><li>Y->F at 731: No effect on tyrosine phosphorylation by INSR</li><li>Y->F at 774: Strongly reduces tyrosine phosphorylation by INSR; when associated with F-371 and F-700</li></ul>		phosphorylation	GO:0016310					<li>Q13239</li><li>Q9HD40</li><li>P43403</li><li>Q28516</li><li>P06213</li>			1
P22748	762	<ul><li>S->F at 284: Loss of C-terminal domain removal and inactivation</li></ul>	<li>R->W at 14: in RP17; abolishes interaction with SLC4A4. Impaired SLC4A4 cotransporter activity stimulation, MIM: 600852</li><li>R->S at 219: in RP17; no catalytic activity. Impaired SLC4A4 cotransporter activity stimulation, MIM: 600852</li><li>V->L at 237: in dbSNP:rs2229178, MIM: 600852</li>			catalytic activity	GO:0003824			<li>O13134</li><li>Q9Y6R1</li><li>Q9XSZ4</li><li>Q4U116</li><li>Q9GL77</li>	Retinitis pigmentosa type 17 (RP17) [MIM:600852]	rs2229178	3
P22830	2235	<ul><li>C->S at 196: Loss of activity</li><li>C->S at 360: No loss of activity</li><li>C->S at 395: No loss of activity</li><li>C->D,H at 403: Loss of activity</li><li>C->D,H,S at 406: Loss of activity</li><li>C->H,S at 411: Loss of activity</li><li>F->L at 417: Decreased activity</li><li>F->Y,W at 417: Greatly reduced activity</li></ul>	<li>G->C at 55: in EPP; dbSNP:rs3848519, MIM: 177000</li><li>P->R at 62: in EPP, MIM: 177000</li><li>I->K at 71: in EPP; enzyme totally inactive, MIM: 177000</li><li>R->Q at 96: in dbSNP:rs1041951, MIM: 177000</li><li>Q->L at 139: in EPP; autosomal recessive EPP; enzyme retains 18% of activity, MIM: 177000</li><li>S->P at 151: in EPP; enzyme totally inactive, MIM: 177000</li><li>E->K at 178: in EPP, MIM: 177000</li><li>L->R at 182: in EPP; enzyme totally inactive, MIM: 177000</li><li>I->T at 186: in EPP, MIM: 177000</li><li>Y->H at 191: in EPP; enzyme retains 72% of activity, MIM: 177000</li><li>P->T at 192: in EPP; enzyme totally inactive, MIM: 177000</li><li>C->Y at 236: in EPP; enzyme retains 12% of activity, MIM: 177000</li><li>F->L at 260: in EPP; autosomal recessive EPP; enzyme retains 52% of activity, MIM: 177000</li><li>S->L at 264: in EPP, MIM: 177000</li><li>M->I at 267: in EPP; unchanged activity; but increased thermolability, MIM: 177000</li><li>T->I at 283: in EPP; enzyme almost inactive, MIM: 177000</li><li>M->K at 288: in EPP; enzyme totally inactive, MIM: 177000</li><li>P->L at 334: in EPP; autosomal recessive EPP; enzyme retains 19% of activity, MIM: 177000</li><li>V->G at 362: in EPP, MIM: 177000</li><li>K->N at 379: in EPP; autosomal recessive EPP; enzyme retains 37% of activity, MIM: 177000</li><li>H->P at 386: in EPP; loss of activity, MIM: 177000</li><li>C->S at 406: in EPP; enzyme almost inactive, MIM: 177000</li><ul><li>C->D,H,S at 406: Loss of activity</li></ul><li>C->Y at 406: in EPP; enzyme almost inactive, MIM: 177000</li><ul><li>C->D,H,S at 406: Loss of activity</li></ul><li>NPVC->KSVG at 408-411: in EPP; no detectable enzymatic activity, MIM: 177000</li></ul><li>F->S at 417: in EPP; reduced activity, MIM: 177000</li><ul><li>F->L at 417: Decreased activity</li><li>F->Y,W at 417: Greatly reduced activity</li></ul><li>Missing  at 417: in EPP; enzyme totally inactive, MIM: 177000</li><ul><li>F->L at 417: Decreased activity</li><li>F->Y,W at 417: Greatly reduced activity</li></ul>							P11678	Erythropoietic protoporphyria (EPP) [MIM:177000]	<li>rs3848519</li><li>rs1041951</li>	4
P22888	3973	<ul><li>C->G at 643: Loss of palmitoylation</li><li>C->G at 644: Loss of palmitoylation</li></ul>	<li>Q->QLQ at 18</li><li>C->R at 131: in LCH, MIM: 152790</li><li>N->S at 284, MIM: 152790</li><li>S->N at 306, MIM: 152790</li><li>C->S at 343: in LCH, MIM: 152790</li><li>E->K at 354: in LCH, MIM: 152790</li><li>A->V at 373: in FMPP, MIM: 176410</li><li>M->T at 398: in FMPP, MIM: 176410</li><li>L->R at 457: in FMPP, MIM: 176410</li><li>I->L at 542: in FMPP, MIM: 176410</li><li>C->R at 543: in FMPP, MIM: 176410</li><li>D->G at 564: in FMPP, MIM: 176410</li><li>D->N at 564: in a breast cancer sample; somatic mutation, MIM: 176410</li><li>A->V at 568: in FMPP, MIM: 176410</li><li>M->I at 571: in FMPP, MIM: 176410</li><li>A->V at 572: in FMPP, MIM: 176410</li><li>I->L at 575: in FMPP, MIM: 176410</li><li>T->I at 577: in FMPP, MIM: 176410</li><li>D->E at 578: in FMPP, MIM: 176410</li><li>D->G at 578: in FMPP, MIM: 176410</li><li>D->H at 578: in Leydig cell tumor; somatic mutation; causes receptor activation and precocious puberty, MIM: 176410</li><li>D->Y at 578: in FMPP, MIM: 176410</li><li>C->R at 581: in FMPP, MIM: 176410</li><li>A->P at 593: in LCH; abolishes signal transduction, MIM: 152790</li><li>Missing  at 608-609: in LCH, MIM: 152790</li><li>S->Y at 616: in LCH; micropenis, MIM: 152790</li><li>I->K at 625: in LCH, MIM: 152790</li>	transduction	GO:0009293						<li>Familial male precocious puberty (FMPP) [MIM:176410]</li><li>Leydig cell hypoplasia (LCH) [MIM:152790]</li>		3
P23141	1066	<ul><li>N->A at 79: Abolishes glycosylation</li><li>S->A at 221: Loss of activity</li><li>E->A at 354: Loss of activity</li><li>H->A at 468: Loss of activity</li><li>Missing at 564-567: Does not result in secretion</li></ul>	<li>G->GA at 18</li><li>S->N at 75: in dbSNP:rs2307240</li><li>G->E at 143: 5.4-fold decrease in activity with p-nitrophenyl acetate as substrate; no change in affinity for p-nitrophenyl acetate; loss of activity with L- or D-methylphenidate as substrate</li><li>R->H at 199: in dbSNP:rs2307243</li><li>D->E at 203: in dbSNP:rs2307227</li><li>Missing at 362</li>	secretion	GO:0046903							<li>rs2307227</li><li>rs2307243</li><li>rs2307240</li>	3
P23219	5742	<ul><li>S->N at 529: Abolishes cyclooxygenase activity</li></ul>	<li>R->W at 8: in dbSNP:rs1236913</li><li>P->L at 17: in dbSNP rsrs3842787</li><li>R->H at 53: in dbSNP rsrs3842789</li><li>R->L at 149: in dbSNP rsrs10306140</li><li>L->M at 237: in dbSNP rsrs5789</li><li>K->R at 359: in dbSNP:rs5791</li><li>I->V at 443: in dbSNP:rs5792</li><li>V->I at 481: in dbSNP rsrs5794</li>									<li>rs10306140</li><li>rs5789</li><li>rs1236913</li><li>rs5791</li><li>rs3842789</li><li>rs5792</li><li>rs3842787</li><li>rs5794</li>	3
P23276	3792	<ul><li>C->S at 72: Loss of Kell-XK complex</li><li>C->S at 319: No loss of Kell-XK complex</li></ul>	<li>A->T at 163: in dbSNP:rs8175974</li><li>R->P at 180: in KEL24 antigen: in dbSNP rsrs61729039</li><li>T->M at 193: in KEL1/K antigen; dbSNP:rs8176058</li><li>R->Q at 248: in KEL25 antigen: in dbSNP rsrs61729040</li><li>E->K at 249: in KEL27 antigen: in dbSNP rsrs61729042</li><li>R->Q at 281: in KEL21/Kp: in dbSNP rsrs61729036</li><li>R->W at 281: in KEL3/Kp: in dbSNP rsrs8176059</li><li>V->A at 302: in KEL17 antigen: in dbSNP rsrs61729034</li><li>A->V at 322: in KEL22 antigen: in dbSNP rsrs61729037</li><li>Q->R at 382: in KEL23 antigen: in dbSNP rsrs61729038</li><li>R->Q at 406: in KEL26 antigen: in dbSNP rsrs61729041</li><li>R->Q at 492: in KEL19 antigen: in dbSNP rsrs61729035</li><li>E->V at 494: in KEL10/Ul: in dbSNP rsrs61729032</li><li>H->R at 548: in KEL12 antigen: in dbSNP rsrs61729033</li><li>L->P at 597: in KEL6/Js: in dbSNP rsrs8176038</li><li>S->A at 726: in dbSNP:rs8176048</li>							<li>Q08979</li><li>P38853</li>		<li>rs61729040</li><li>rs61729041</li><li>rs61729032</li><li>rs61729033</li><li>rs61729042</li><li>rs61729034</li><li>rs8176038</li><li>rs61729036</li><li>rs61729035</li><li>rs8176058</li><li>rs61729038</li><li>rs8176059</li><li>rs61729037</li><li>rs8176048</li><li>rs61729039</li><li>rs8175974</li>	3
P23368	4200	<ul><li>R->S at 67: Abolishes activation by fumarate</li><li>R->T at 91: Abolishes activation by fumarate</li></ul>	<li>P->L at 114: in dbSNP:rs16952692</li><li>G->E at 450: in dbSNP:rs649224</li>									<li>rs16952692</li><li>rs649224</li>	3
P23468	5789	<ul><li>R->A at 1178: 2.5-fold reduction in cleavage. 10-fold reduction in cleavage; when associated with A-1181</li><li>R->A at 1181: No reduction in cleavage. 10-fold reduction in cleavage; when associated with A-1178</li></ul>	<li>R->Q at 28: in a colorectal cancer sample; somatic mutation</li><li>L->P at 276: in a colorectal cancer sample; somatic mutation</li><li>Q->E at 447: in dbSNP:rs10977171</li><li>V->A at 901: in a colorectal cancer sample; somatic mutation</li><li>E->D at 1078: in dbSNP:rs7869444</li>									<li>rs10977171</li><li>rs7869444</li>	3
P23560	627	<ul><li>R->A at 54: Abolishes processing by S1P</li></ul>	<li>T->I at 2: in CCHS; dbSNP:rs8192466, MIM: 209880</li><li>V->M at 66: polymorphism that impairs localization to secretory granules or synapses; associated with poorer episodic memory; may have a protective effect in obsessive-compulsive disorder; dbSNP:rs6265, MIM: 209880</li><li>Q->H at 75: in dbSNP:rs1048218, MIM: 209880</li><li>R->M at 125: in dbSNP:rs1048220, MIM: 209880</li><li>R->L at 127: in dbSNP:rs1048221, MIM: 209880</li>	<li>memory</li><li>localization</li>	<li>GO:0007613</li><li>GO:0051179</li>			<li>synapses</li><li>secretory granules</li>	<li>GO:0045202</li><li>GO:0030141</li>	<li>Q9Z2A8</li><li>Q14703</li>	Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	<li>rs1048220</li><li>rs1048221</li><li>rs6265</li><li>rs8192466</li><li>rs1048218</li>	3
P24394	3566	<ul><li>Y->A at 38: 700-fold reduction in IL4 binding</li><li>Y->F at 38: 25-fold reduction in IL4 binding</li><li>M->A at 39: No effect on IL4 binding</li><li>S->A at 40: No effect on IL4 binding</li><li>L->A at 64: 100-fold reduction in IL4 binding</li><li>F->A at 66: 45-fold reduction in IL4 binding</li><li>L->A at 67: No effect on IL4 binding</li><li>L->A at 68: No effect on IL4 binding</li><li>D->A at 91: Little effect on IL4 binding</li><li>D->A at 92: 50-fold reduction in IL4 binding</li><li>V->A at 93: Little effect on IL4 binding</li><li>V->A at 94: 35-fold reduction in IL4 binding</li><li>S->A at 95: No effect on IL4 binding</li><li>D->A,N at 97: >150-fold reduction in IL4 binding</li><li>N->A at 98: No effect on IL4 binding</li><li>Y->A at 99: 10-fold reduction in IL4 binding</li><li>K->A at 116: Little effect on IL4 binding</li><li>P->A at 117: Little effect on IL4 binding</li><li>S->A at 118: No effect on IL4 binding</li><li>E->A at 119: No effect on IL4 binding</li><li>D->A at 150: Little effect on IL4 binding</li><li>N->A at 151: Little effect on IL4 binding</li><li>Y->A at 152: 40-fold reduction in IL4 binding</li><li>Y->F at 152: No effect on IL4 binding</li><li>L->A at 153: Little effect on IL4 binding</li><li>Y->A at 154: Little effect on IL4 binding</li><li>Y->A at 208: 500-fold reduction in IL4 binding</li><li>Y->F at 208: 200-fold reduction in IL4 binding</li><li>Y->F at 497: Abolishes IRS1 tyrosine phosphorylation. No cell proliferation</li><li>Y->F at 575: Loss of CD23 gene induction; when associated with F-603 and F-631</li><li>Y->F at 603: Loss of CD23 gene induction; when associated with F-575 and F-631</li><li>Y->F at 631: Loss of CD23 gene induction; when associated with F-575 and F-603</li><li>Y->F at 713: Increased IL4-induced cell proliferation and STAT6 activation</li></ul>	<li>I->V at 75: associated with atopic asthma; dbSNP:rs1805010</li><li>S->L at 387: in dbSNP:rs6413500</li><li>E->A at 400: in dbSNP:rs1805011</li><li>C->R at 431: in dbSNP:rs1805012</li><li>S->L at 436: in dbSNP:rs1805013</li><li>A->T at 492: in dbSNP:rs35606110</li><li>A->V at 492: in dbSNP:rs34727572</li><li>S->P at 503: lowered total IgE concentration; dbSNP:rs1805015</li><li>Q->R at 576: associated with atopic dermatitis; lowered total IgE concentration; no effect on IL4-induced signal transduction; dbSNP:rs1801275</li><li>V->I at 579: in dbSNP:rs3024677</li><li>P->S at 675: in dbSNP:rs3024678</li><li>S->A at 752: in dbSNP:rs1805016</li><li>S->P at 786: in 1.8% of the population; dbSNP:rs1805014</li>	<li>phosphorylation</li><li>cell proliferation</li><li>transduction</li>	<li>GO:0016310</li><li>GO:0008283</li><li>GO:0009293</li>	binding	GO:0005488			<li>Q9XS58</li><li>Q9MZR8</li><li>P42202</li><li>Q28224</li><li>Q2PE74</li><li>O77762</li><li>P79339</li><li>Q865X5</li><li>P35568</li><li>P42226</li><li>Q7YS71</li><li>Q865Y0</li><li>Q04745</li><li>P79155</li><li>P46652</li><li>P09715</li><li>Q3S4V6</li><li>P47966</li><li>P55030</li><li>Q60440</li><li>P51492</li><li>P05112</li><li>Q8HYB1</li><li>P30367</li><li>P30368</li><li>P51744</li><li>Q58M18</li>		<li>rs35606110</li><li>rs1801275</li><li>rs34727572</li><li>rs3024678</li><li>rs3024677</li><li>rs1805012</li><li>rs1805013</li><li>rs6413500</li><li>rs1805014</li><li>rs1805015</li><li>rs1805010</li><li>rs1805011</li><li>rs1805016</li>	3
P24530	1910	<ul><li>C->S at 402: Abolishes palmitoylation; when associated with S-403 and S-405</li><li>C->S at 403: Abolishes palmitoylation; when associated with S-402 and S-405</li><li>C->S at 405: Abolishes palmitoylation; when associated with S-402 and S-403</li></ul>	<li>P->T at 5: in dbSNP:rs12720160</li><li>L->Q at 7: in dbSNP:rs5345</li><li>L->F at 17: in dbSNP:rs5346</li><li>G->S at 57: in HSCR2; sporadic; sex-dependent gene dosage effect; neuronal intestinal dysplasia; could be a polymorphism; dbSNP:rs1801710, MIM: 600155</li><li>R->M at 76: in dbSNP:rs2228271, MIM: 600155</li><li>F->V at 112: in dbSNP:rs5347, MIM: 600155</li><li>A->G at 183: in WS4, MIM: 277580</li><li>T->M at 244: in dbSNP:rs5350, MIM: 277580</li><li>W->C at 276: in HSCR2, MIM: 600155</li><li>F->L at 292: in WS4, MIM: 277580</li><li>S->N at 305: in HSCR2; familial; dbSNP:rs5352, MIM: 600155</li><li>R->W at 319: in HSCR2; sporadic, MIM: 600155</li><li>M->I at 374: in HSCR2, MIM: 600155</li><li>P->L at 383: in HSCR2; familial, MIM: 600155</li>								<li>Waardenburg syndrome type IV (WS4) [MIM:277580]</li><li>Hirschsprung disease type 2 (HSCR2) [MIM:600155]</li>	<li>rs5350</li><li>rs1801710</li><li>rs2228271</li><li>rs5352</li><li>rs5347</li><li>rs5346</li><li>rs12720160</li><li>rs5345</li>	3
P24588	9495	<ul><li>L->P at 392: Prevents or diminishes RII binding</li><li>A->P at 396: Prevents or diminishes RII binding</li><li>V->P at 400: Prevents or diminishes RII binding</li><li>Q->P at 405: Prevents or diminishes RII binding</li><li>I->P at 408: Prevents or diminishes RII binding</li></ul>				binding	GO:0005488						1
P24666	52	<ul><li>C->S at 13: Inactive</li><li>Y->F at 132: Reduced phosphorylation and activity</li><li>Y->F at 133: Reduced phosphorylation. No effect on activity</li></ul>	<li>K->N at 7: in dbSNP:rs11691572</li><li>Q->R at 106: in allele ACP1*A: in dbSNP rsrs7576247</li><li>S->F at 137: in dbSNP:rs35569198</li>	phosphorylation	GO:0016310					<li>Q5ZKG5</li><li>P32463</li><li>Q5REM7</li><li>P11064</li><li>P81693</li><li>P24666</li><li>P36184</li><li>P93092</li>		<li>rs7576247</li><li>rs11691572</li><li>rs35569198</li>	3
P24941	1017	<ul><li>T->A at 14: 2-fold increase in activity</li><li>Y->F at 15: 2-fold increase in activity</li><li>T->A at 160: Abolishes activity</li></ul>	<li>Y->S at 15: in dbSNP:rs3087335</li><ul><li>Y->F at 15: 2-fold increase in activity</li></ul><li>V->L at 18: in dbSNP:rs11554376</li></ul><li>P->L at 45: in a glioblastoma multiforme sample; somatic mutation</li></ul><li>T->S at 290: in dbSNP:rs2069413</li></ul>									<li>rs3087335</li><li>rs2069413</li><li>rs11554376</li>	4
P25205	4172	<ul><li>S->A at 535: 50% reduction in phosphorylation by ATM or ATR</li></ul>	<li>S->G at 105: in dbSNP:rs2307332</li><li>D->V at 280: in dbSNP:rs2307329</li><li>F->L at 287: in dbSNP:rs2307328</li><li>I->L at 590: in dbSNP:rs17240063</li><li>R->W at 774: in dbSNP:rs2230239</li><li>E->K at 777: in dbSNP:rs2230240</li>	phosphorylation	GO:0016310					<li>Q13315</li><li>Q6PQD5</li><li>Q13535</li><li>Q9H6X2</li><li>Q9FKS4</li><li>Q9M3G7</li><li>P20848</li>		<li>rs2230240</li><li>rs2307332</li><li>rs2230239</li><li>rs2307329</li><li>rs17240063</li><li>rs2307328</li>	3
P25440	6046	<ul><li>Q->A at 78: Loss of homodimerization</li><li>MQ->AA at 142-143: Loss of homodimerization</li><li>Y->K at 153: Loss of homodimerization</li><li>I->A at 154: Partial loss of homodimerization; when associated with A-182</li><li>E->A at 170: Loss of homodimerization</li><li>L->E at 174: Loss of homodimerization</li><li>V->E at 177: Loss of homodimerization</li><li>Q->A at 182: Partial loss of homodimerization; when associated with A-154</li></ul>	<li>G->E at 30: in a glioblastoma multiforme sample; somatic mutation</li><li>A->G at 49</li><li>A->S at 49: in dbSNP rsrs55669504</li><li>A->P at 212: in dbSNP rsrs35952031</li><li>L->F at 238: in dbSNP:rs176250</li><li>P->Q at 260: in dbSNP rsrs35294809</li><li>A->V at 474: in dbSNP:rs3918143</li><li>R->K at 547: in dbSNP:rs1049369</li><li>R->G at 558: in a gastric adenocarcinoma sample; somatic mutation</li><li>A->T at 569: in dbSNP rsrs34530779</li><li>A->P at 599: in dbSNP rsrs55952113</li><li>P->L at 714: in a glioblastoma multiforme sample; somatic mutation</li>									<li>rs55952113</li><li>rs35294809</li><li>rs35952031</li><li>rs3918143</li><li>rs34530779</li><li>rs55669504</li><li>rs1049369</li><li>rs176250</li>	3
P25963	4792	<ul><li>K->R at 21: Little change in Tax-stimulated transactivation. No sumoylation. Greatly reduced Tax- or cytokine-stimulated transactivation and decrease in ubiquitination and degradation; when associated with R-22</li><li>K->R at 22: Little change in Tax-stimulated transactivation. No sumoylation. Greatly reduced Tax- or cytokine-stimulated transactivation and decrease in ubiquitination and degradation; when associated with R-21</li><li>D->A at 31: Loss of phosphorylation; when associated with A-35</li><li>S->A at 32: Loss of phosphorylation and degradation; when associated with A-36</li><li>S->T at 32: Decrease in phosphorylation and degradation; when associated with T-36</li><li>D->A at 35: Loss in phosphorylation; when associated with A-31</li><li>D->G at 35: No change neither in phosphorylation, nor on degradation</li><li>S->A at 36: Loss of phosphorylation and degradation; when associated with A-32</li><li>S->T at 36: Decrease in phosphorylation and degradation; when associated with T-32</li><li>K->R at 38: No change in Tax-stimulated transactivation. No change in Tax-stimulated transactivation; when associated with R-47</li><li>Y->F at 42: No phosphorylation</li><li>MVKELQEI->AAKEA at 45-52: No nuclear export</li><li>K->R at 47: Little change in Tax-stimulated transactivation. No change in Tax-stimulated transactivation; when associated with R-38</li><li>LHLAVI->AHAAVA at 115-120: Greatly reduced nuclear localization. Great reduction in its ability to inhibit DNA binding of RELA</li><li>S->A at 234: No inducible ubiquitination nor protein degradation</li><li>S->A at 262: No inducible ubiquitination nor protein degradation</li><li>T->A at 263: No inducible ubiquitination nor protein degradation</li></ul>	<li>S->I at 32: in ADEDAID: in dbSNP rsrs28933100, MIM: 612132</li><ul><li>S->A at 32: Loss of phosphorylation and degradation; when associated with A-36</li><li>S->T at 32: Decrease in phosphorylation and degradation; when associated with T-36</li></ul>	<li>phosphorylation</li><li>protein degradation</li><li>sumoylation</li><li>nuclear export</li><li>localization</li>	<li>GO:0016310</li><li>GO:0030163</li><li>GO:0016925</li><li>GO:0051168</li><li>GO:0051179</li>	DNA binding	GO:0003677			<li>P98152</li><li>Q04206</li>	Ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant (ADEDAID) [MIM:612132]	rs28933100	4
P26010	3695	<ul><li>D->A at 159: Loss of integrin alpha-E/beta-7 binding to E-cadherin and of integrin alpha-4/beta-7 binding to MADCAM1</li></ul>	<li>H->Y at 672: in dbSNP:rs11539433</li>			binding	GO:0005488			Q13477		rs11539433	3
P26358	1786	<ul><li>R->A at 163: Abolishes interaction with PCNA</li><li>Q->A at 164: Abolishes interaction with PCNA</li><li>T->A at 166: Abolishes interaction with PCNA</li><li>I->A at 167: Abolishes interaction with PCNA</li><li>S->A at 169: No loss of interaction with PCNA</li><li>H->V at 170: Abolishes interaction with PCNA</li><li>F->V at 171: Abolishes interaction with PCNA</li><li>A->S at 172: No loss of interaction with PCNA</li><li>K->A at 173: No loss of interaction with PCNA</li></ul>	<li>H->R at 97: in dbSNP:rs16999593</li><li>I->V at 311: in dbSNP:rs2228612</li>							<li>O16852</li><li>Q9HJQ0</li><li>Q6B6N4</li><li>Q8PX25</li><li>P61074</li><li>O29912</li><li>Q9DDF1</li><li>Q43124</li><li>Q57697</li><li>P18248</li><li>O02115</li><li>P53358</li><li>O01377</li><li>Q6LWJ8</li><li>Q9MAY3</li><li>Q00268</li><li>Q8TUF7</li><li>Q00265</li><li>Q9DEA3</li><li>P17070</li><li>Q9M7Q7</li><li>O58398</li><li>O10308</li><li>P17917</li><li>P31008</li><li>P61258</li><li>P17918</li><li>P11038</li><li>P15873</li><li>Q7T6Y0</li><li>Q03392</li><li>P22177</li><li>P04961</li><li>Q979S2</li><li>P57761</li><li>O73947</li><li>Q9W644</li><li>Q9UWR9</li><li>Q9PTP1</li><li>Q74MV1</li><li>Q8TWK3</li><li>O82134</li><li>Q9HN45</li><li>Q6KZF1</li><li>O82797</li><li>P12004</li><li>P24314</li><li>Q9UYX8</li><li>Q9P9H8</li><li>Q43266</li><li>O27367</li>		<li>rs16999593</li><li>rs2228612</li>	3
P26368	11338	<ul><li>W->A at 92: Decreases affinity for UAF1 by 3 orders of magnitude</li><li>P->G at 96: Decreases affinity for UAF1 by 2 orders of magnitude</li><li>P->G at 104: Decreases affinity for UAF1 by 2 orders of magnitude</li><li>EE->RR at 387-388: Reduces interaction with SF1</li><li>DDEE->AAAA at 391-394: Reduces interaction with SF1</li><li>DDEE->RRKK at 391-394: Reduces interaction with SF1</li><li>EE->AA at 396-397: No effect</li><li>EE->GA at 396-397: Reduces interaction with SF1</li><li>EE->KK at 396-397: Reduces interaction with SF1</li><li>F->A at 454: Reduces interaction with SF1</li></ul>								<li>Q95L87</li><li>Q9GKL2</li><li>Q13285</li><li>Q12186</li><li>Q15637</li>			1
P26440	3712	<ul><li>E->D at 283: Residual activity</li><li>E->G,Q at 283: Loss of activity</li></ul>	<li>L->P at 42: in IVA, MIM: 243500</li><li>R->P at 50: in IVA, MIM: 243500</li><li>D->N at 69: in IVA, MIM: 243500</li><li>G->V at 199: in IVA, MIM: 243500</li><li>A->V at 311: in IVA: in dbSNP rsrs28940889, MIM: 243500</li><li>C->R at 357: in IVA, MIM: 243500</li><li>V->A at 371: in IVA, MIM: 243500</li><li>R->C at 392: in IVA, MIM: 243500</li><li>R->L at 411: in IVA, MIM: 243500</li>								Isovaleric acidemia (IVA) [MIM:243500]	rs28940889	3
P27105	2040	<ul><li>T->A at 182: No effect on oligomerization</li><li>W->A at 185: Complete loss of oligomerization</li><li>Y->A at 252: Complete loss of oligomerization</li><li>K->A at 263: Reduced oligomerization and lipid raft association</li><li>N->A at 264: Reduced oligomerization and lipid raft association</li><li>S->A at 265: Oligomerization reduced to 18%. Reduced lipid raft association</li><li>T->A at 266: Complete loss of oligomerization. Reduced lipid raft association</li><li>I->A at 267: Complete loss of oligomerization and lipid raft association</li><li>V->A at 268: Complete loss of oligomerization and lipid raft association</li><li>F->A at 269: Complete loss of oligomerization and lipid raft association</li><li>P->A at 270: Complete loss of oligomerization. No effect on lipid raft association</li><li>L->A at 271: Complete loss of oligomerization. Reduced lipid raft association</li><li>P->A at 272: Oligomerization reduced to 18%. Reduced lipid raft association</li><li>I->A at 273: Complete loss of oligomerization. Reduced lipid raft association</li><li>D->A at 274: Reduced oligomerization and lipid raft association</li><li>M->A at 275: Reduced oligomerization and lipid raft association</li><li>L->A at 276: Reduced oligomerization and lipid raft association</li></ul>						lipid raft	GO:0045121				1
P27169	5444	<ul><li>HQ->AA at 20-21: The signal peptide is cleaved; not associated with HDL</li><li>C->A,S at 284: No loss of activity</li></ul>	<li>M->L at 55: associated with susceptibility to diabetic retinopathy; dbSNP:rs854560</li><li>I->V at 102: polymorphism associated with decreased activity that seems to be associated with an increased risk for prostate cancer</li><li>R->G at 160: in dbSNP:rs13306698</li><li>Q->R at 192: polymorphism important for activity; dbSNP:rs662</li>									<li>rs13306698</li><li>rs662</li><li>rs854560</li>	3
P27338	4129	<ul><li>C->S at 5: No loss of activity</li><li>C->S at 156: Complete loss of activity</li><li>T->A at 158: Dramatic loss of activity</li><li>C->S at 172: No loss of activity</li><li>C->S at 192: No loss of activity</li><li>I->F at 199: Alters specificity towards synthetic inhibitors</li><li>C->S at 297: No loss of activity</li><li>C->S at 312: No loss of activity</li><li>C->S at 365: Complete loss of activity</li><li>H->R at 382: Significant loss of activity</li><li>K->M at 386: No loss of activity</li><li>C->A at 389: Complete loss of activity</li><li>C->S at 389: No loss of activity</li><li>S->A at 394: No loss of activity</li><li>C->S at 397: Complete loss of activity</li></ul>											1
P27695	328	<ul><li>N->A at 212: Abolishes the AP endonuclease activity</li><li>N->Q,D at 212: Decreases the AP endonuclease activity</li></ul>	<li>Q->H at 51: in dbSNP:rs1048945</li><li>I->V at 64: in dbSNP:rs2307486</li><li>D->E at 148: in dbSNP:rs1130409</li>							Q10002		<li>rs1048945</li><li>rs1130409</li><li>rs2307486</li>	3
P27816	4134	<ul><li>S->E at 696: No change in microtubule binding; no change in microtubule polymerization activity</li><li>S->E at 787: No change in microtubule binding; reduced microtubule polymerization activity</li></ul>	<li>R->Q at 23: in dbSNP:rs11711953</li><li>P->L at 366: in dbSNP:rs13097415</li><li>S->P at 367: in dbSNP:rs13096947</li><li>D->G at 409: in dbSNP:rs13076542</li><li>S->Y at 427: in dbSNP:rs1060407</li><li>E->Q at 441: in dbSNP:rs2230169</li><li>I->V at 628: in dbSNP:rs1137524</li><li>I->V at 994: in dbSNP:rs35736893</li>	microtubule polymerization	GO:0046785	microtubule binding	GO:0008017					<li>rs1137524</li><li>rs13076542</li><li>rs13096947</li><li>rs2230169</li><li>rs13097415</li><li>rs11711953</li><li>rs35736893</li><li>rs1060407</li>	3
P28065	5698	<ul><li>G->A at 20: Impairs correct processing at the consensus site</li><li>T->A at 21: Impairs correct processing at the consensus site</li><li>K->A at 53: Impairs correct processing at the consensus site</li></ul>	<li>G->E at 9: in dbSNP:rs35100697</li><li>V->I at 32: in dbSNP:rs241419</li><li>R->H at 60: in dbSNP:rs17587</li><li>R->C at 173: in dbSNP:rs17213861</li>									<li>rs241419</li><li>rs17213861</li><li>rs35100697</li><li>rs17587</li>	3
P28068	3109	<ul><li>Y->A at 248: Abolishes targeting to endosomes and results in relocalization to the cell membrane</li><li>L->A at 251: Abolishes targeting to endosomes and results in relocalization to the cell membrane</li></ul>	<li>T->A at 28: in dbSNP:rs17583782</li><li>S->F at 45: in allele DMB*0106: in dbSNP rsrs41560814</li><li>D->V at 49: in dbSNP:rs17617333</li><li>S->N at 71: in dbSNP:rs17617321</li><li>A->E at 162: in allele DMB*0102 and allele DMB*0106: in dbSNP rsrs2071555</li><li>A->V at 162: in allele DMB*0104 and allele DMB*0105: in dbSNP rsrs2071555</li><li>I->T at 197: in allele DMB*0103, allele DMB*0104 and allele DMB*0106; dbSNP:rs1042337</li>					<li>cell membrane</li><li>endosomes</li>	<li>GO:0005886</li><li>GO:0005768</li>	P28068		<li>rs1042337</li><li>rs2071555</li><li>rs41560814</li><li>rs17583782</li><li>rs17617333</li><li>rs17617321</li>	3
P28223	3356	<ul><li>G->V at 463: Loss of interaction with INADL</li><li>N->S at 465: No effect on interaction with INADL. Acquires the binding properties of HTR2C; when associated with S-470</li><li>C->S at 470: No effect on interaction with INADL. Acquires the binding properties of HTR2C; when associated with S-465</li><li>V->A at 471: Loss of interaction with INADL, CASK, APBA1, DLG1 and DLG4</li></ul>	<li>T->N at 25: in dbSNP:rs1805055</li><li>I->V at 197: in dbSNP:rs6304</li><li>A->V at 447: in dbSNP:rs6308</li><li>H->Y at 452: in dbSNP:rs6314</li>			binding	GO:0005488			<li>P78352</li><li>P07498</li><li>Q02410</li><li>Q15334</li><li>Q60F97</li><li>Q8NI35</li><li>Q5IS66</li><li>O14936</li><li>P28335</li><li>Q12959</li>		<li>rs6314</li><li>rs6304</li><li>rs1805055</li><li>rs6308</li>	3
P28288	5825	<ul><li>G->R at 478: Decreased ATP-binding affinity</li><li>S->I at 572: Decreased ATPase activity</li></ul>	<li>G->D at 17: in ZWS-2, MIM: 170995</li>			<li>ATP-binding</li><li>ATPase activity</li>	<li>GO:0005524</li><li>GO:0016887</li>				Zellweger syndrome type 2 (ZWS-2) [MIM:170995]		3
P28335	3358	<ul><li>S->A at 456: Loss of interaction with MPDZ</li><li>S->T at 456: No effect on interaction with MPDZ</li><li>S->A at 457: No effect on interaction with MPDZ</li><li>V->A at 458: Loss of interaction with MPDZ</li></ul>	<li>C->S at 23: in dbSNP:rs6318</li><li>I->V at 156: in RNA edited version</li><li>N->S at 158: in RNA edited version</li><li>I->V at 160: in RNA edited version</li>							O75970		rs6318	3
P28370	6594	<ul><li>K->R at 214: No effect on neurite outgrowth</li></ul>	<li>Q->R at 656: in dbSNP:rs1134838</li>									rs1134838	3
P28749	5933	<ul><li>S->A at 640: Strongly reduces phosphorylation by CDK2 and CDK4</li><li>S->R at 643: No effect on S-640 phosphorylation, but strongly increases S-640 phosphorylation; when associated to 657-A--A-660</li><li>S->A at 650: No effect on phosphorylation by CDK2</li><li>KRRL->AAAA at 657-660: Reduces S-640 phosphorylation by CDK2 and CDK4</li></ul>	<li>I->M at 1035: in dbSNP:rs8114297</li>	phosphorylation	GO:0016310					<li>P48963</li><li>Q5E9Y0</li><li>P43450</li><li>P11802</li><li>P79432</li><li>P24941</li><li>O55076</li>		rs8114297	3
P28845	3290	<ul><li>KK->RR at 5-6: Predominantly inverted topology. No effect on activity</li><li>KK->SS at 5-6: Inverted topology. Reduced Vmax</li><li>K->R at 5: Predominantly inverted topology. No effect on activity</li><li>K->S at 5: Inverted topology. No effect on activity</li><li>K->R at 6: No effect on topology. Increased Km for corticosterone</li><li>K->S at 6: No effect on topology or activity</li><li>YYYY->AAAA at 18-21: No effect on topology. Reduced Vmax</li><li>YYYY->FFFF at 18-21: No effect on topology or activity</li><li>YYY->AYA at 19-21: No effect on topology. Reduced Vmax</li><li>EE->KK at 25-26: Inverted topology. Reduced Vmax</li><li>EE->KQ at 25-26: No effect on topology. Reduced Vmax</li><li>EE->QQ at 25-26: Reduced Vmax</li><li>E->K,Q at 25: No effect on activity</li><li>E->K at 26: No effect on activity</li><li>KK->SS at 35-36: Complete loss of activity</li></ul>	<li>V->E at 148: in a breast cancer sample; somatic mutation</li>										3
P28907	952	<ul><li>C->K at 119: Loss of cADPr hydrolase activity</li><li>C->R,E,A at 119: Loss of cADPr hydrolase and ADP-ribosyl cyclase activity</li><li>C->A at 160: Loss of cADPr hydrolase and ADP-ribosyl cyclase activity</li><li>C->A at 173: Loss of cADPr hydrolase and ADP-ribosyl cyclase activity</li><li>C->D,K,A at 201: Loss of cADPr hydrolase and ADP-ribosyl cyclase activity</li><li>C->E at 201: Loss of cADPr hydrolase activity</li></ul>	<li>R->W at 140: seems to contribute to the development of type II diabetes; 50% reduction in activity; dbSNP:rs1800561</li>	development	GO:0007275	hydrolase activity	GO:0016787			<li>Q9P4P9</li><li>Q9SZ30</li><li>P02783</li><li>O94303</li><li>P33734</li>		rs1800561	3
P29016	910	<ul><li>YQ->AA at 329-330: Strongly reduced internalization and trafficking to endosomes</li></ul>						endosomes	GO:0005768				1
P29218	3612	<ul><li>K->Q at 36: 50-fold reduction in activity</li></ul>	<li>I->V at 109: in dbSNP:rs204781</li>									rs204781	3
P29373	1382	<ul><li>K->A at 21: Loss of ligand-induced nuclear import; when associated with A-30 and A-31</li><li>R->A at 30: Loss of ligand-induced nuclear import; when associated with A-21 and A-31</li><li>K->A at 31: Loss of ligand-induced nuclear import; when associated with A-21 and A-30</li></ul>		nuclear import	GO:0051170								1
P29466	834	<ul><li>C->A,S at 285: Loss of activity</li></ul>	<li>R->H at 15: in dbSNP:rs1042743</li>									rs1042743	3
P29508	6317	<ul><li>A->R at 341: Loss of inhibitory activity</li><li>F->A at 352: Loss of inhibitory activity</li><li>SS->PP at 354-355: Loss of inhibitory activity</li></ul>	<li>G->A at 351: in dbSNP:rs3180227</li><li>T->A at 357: in dbSNP:rs1065205</li>									<li>rs3180227</li><li>rs1065205</li>	3
P29590	5371	<ul><li>K->R at 65: Loss of one sumoylation. No effect on nuclear body formation. Loss of 2 sumoylations; when associated with R-490 with or without R-133 or R-150. No effect on nuclear body formation; when associated with R-490. No sumoylation nor nuclear body formation; when associated with R-160 and R-490</li><li>K->R at 68: No effect on sumoylation levels</li><li>K->R at 133: Loss of 2 sumoylations; when associated with R-65 and R-490</li><li>K->R at 150: Loss of 2 sumoylations; when associated with R-65 and R-490</li><li>K->R at 160: Loss of 2 sumoylations; when asociated with or without R-65. No sumoylation nor nuclear body formation; when associated with or without R-65 and R-490</li><li>K->R at 490: Loss of 2 sumoylations; when associated with R-65 with or without R-133. No effect on nuclear body formation; when associated with R-65. No sumoylation nor nuclear body formation; when associated with R-65 and R-160</li></ul>	<li>F->L at 645: in dbSNP:rs5742915</li>	sumoylation	GO:0016925							rs5742915	3
P29728	4939	<ul><li>D->A at 408: Loss of activity; when associated with A-410</li><li>D->A at 410: Loss of activity; when associated with A-408</li><li>D->A at 481: Loss of activity</li><li>C->A at 668: Loss of activity; when associated with A-669 and A-670</li><li>F->A at 669: Loss of activity; when associated with A-668 and A-670</li><li>K->A at 670: Loss of activity; when associated with A-668 and A-669</li></ul>											1
P30041	9588	<ul><li>S->A at 32: Loss of AIPLA2 activity, but no effect on NSGPX activity</li><li>C->S at 47: Loss of NSGPX activity, but no effect on AIPLA2 activity</li></ul>											1
P30044	25824	<ul><li>C->S at 100: Complete loss of activity</li><li>C->S at 125: No change in activity</li><li>C->S at 204: Complete loss of activity</li></ul>	<li>C->Y at 33: in dbSNP:rs7938623</li><li>F->L at 157: in a breast cancer sample; somatic mutation</li>									rs7938623	3
P30101	2923	<ul><li>C->A at 57: No loss of activity. No loss of activity; when associated with A-406</li><li>C->S at 57: Activity changed to serine protease</li><li>C->S at 60: Activity changed to serine protease; when associated with S-409</li><li>C->A at 406: No loss of activity. No loss of activity; when associated with A-57</li><li>C->S at 406: Activity changed to serine protease</li><li>C->S at 409: Activity changed to serine protease; when associated with S-60</li></ul>	<li>K->R at 415: in dbSNP:rs6413485</li>							P83290		rs6413485	3
P30291	7465	<ul><li>K->R at 328: Abolishes activity</li></ul>	<li>G->C at 210: in dbSNP:rs34412975</li><li>S->I at 472: in dbSNP rsrs56411856</li>									<li>rs34412975</li><li>rs56411856</li>	3
P30304	993	<ul><li>S->A at 76: Abolishes ubiquitination and impairs CHEK1-dependent degradation following checkpoint activation</li><li>S->A at 79: Abrogates interactions with BTRC and FBXW11 and prevents ubiquitination</li><li>D->A at 81: Abrogates interactions with BTRC and FBXW11 and prevents ubiquitination</li><li>S->A at 82: Abrogates interactions with BTRC and FBXW11 and prevents ubiquitination</li><li>S->A at 124: Increases basal stability and impairs CHEK1-dependent degradation following checkpoint activation; when associated with A-178; A-279 and A-293</li><li>S->A at 178: Increases basal stability and impairs CHEK1-dependent degradation following checkpoint activation; when associated with A-124; A-279 and A-293. Abrogates 14-3-3 protein binding</li><li>S->A at 279: Increases basal stability and impairs CHEK1-dependent degradation following checkpoint activation; when associated with A-124; A-178 and A-293</li><li>S->A at 293: Increases basal stability and impairs CHEK1-dependent degradation following checkpoint activation; when associated with A-124; A-178 and A-279</li><li>C->S at 431: Abolishes phosphatase activity</li><li>T->A at 507: Abrogates 14-3-3 protein binding; increases binding to cyclin B1</li><li>K->L at 514: Abrogates binding to CCNB1; when associated with L-520</li><li>R->L at 520: Abrogates binding to CCNB1; when associated with L-514</li></ul>	<li>S->F at 88: in dbSNP:rs3731499</li><li>R->G at 182: in dbSNP:rs6771386</li><li>R->W at 182: in dbSNP:rs6771386</li>			binding	GO:0005488			<li>Q5X1E5</li><li>O16852</li><li>Q7MBF4</li><li>Q88A53</li><li>Q5PC82</li><li>P61074</li><li>Q821A6</li><li>Q87SK9</li><li>Q9JZ88</li><li>Q5F8K9</li><li>Q9I5V3</li><li>Q63YC3</li><li>Q8Y395</li><li>Q6LV05</li><li>P18248</li><li>P53358</li><li>O01377</li><li>Q9PDL7</li><li>Q9UKB1</li><li>O14757</li><li>Q5WT58</li><li>Q57JQ5</li><li>Q00268</li><li>Q00265</li><li>Q8P5D4</li><li>P06961</li><li>P45269</li><li>P14635</li><li>P17070</li><li>Q88QU2</li><li>Q60CQ4</li><li>Q8ZI64</li><li>P31008</li><li>P17917</li><li>P17918</li><li>Q5E2K7</li><li>Q8CXX6</li><li>P22177</li><li>P04961</li><li>Q7M7K5</li><li>Q7MAZ9</li><li>Q8XBL4</li><li>Q9DG97</li><li>Q5P3T0</li><li>Q9Y297</li><li>Q8Z3M9</li><li>Q5ZRX9</li><li>Q60FY0</li><li>Q9CP21</li><li>Q82U82</li><li>Q8ZLY4</li><li>Q6FA38</li><li>Q9IBG1</li><li>P12004</li><li>O96436</li><li>Q62EU1</li><li>Q9JUB2</li><li>Q08301</li><li>Q9DGA4</li><li>Q8AYC9</li><li>Q665U9</li><li>Q9KPC6</li><li>Q9DGA0</li><li>Q8CWL6</li><li>P24314</li><li>Q8PPG9</li><li>Q9L7A3</li><li>Q6D160</li><li>Q87DS9</li><li>Q65Q41</li><li>P37882</li>		<li>rs6771386</li><li>rs3731499</li>	3
P30307	995	<ul><li>E->K at 352: Partial loss of HIV-1 Vpr binding</li><li>K->E at 359: No effect on HIV-1 Vpr binding</li></ul>	<li>S->N at 14: in dbSNP:rs11567959</li><li>R->C at 70: in dbSNP:rs3734166</li><li>S->N at 78: in dbSNP:rs11567962</li><li>G->R at 297: in dbSNP:rs11567997</li>			binding	GO:0005488					<li>rs11567962</li><li>rs11567997</li><li>rs11567959</li><li>rs3734166</li>	3
P30419	4836	<ul><li>G->D,K at 492: Reduced activity</li></ul>	<li>Q->K at 61: in dbSNP:rs3087878</li>									rs3087878	3
P30518	554	<ul><li>C->S at 341: Reduced palmitoylation, reduced cell surface localization but coupling to G protein unaffected</li><li>C->S at 342: Reduced palmitoylation, reduced cell surface localization but coupling to G protein unaffected</li></ul>	<li>T->S at 7: in dbSNP:rs5196</li><li>G->E at 12: in dbSNP:rs2071126</li><li>A->V at 42: in dbSNP:rs5198</li><li>L->P at 43: in XNDI, MIM: 304800</li><li>L->P at 44: in XNDI, MIM: 304800</li><li>I->K at 46: in XNDI, MIM: 304800</li><li>L->R at 53: in XNDI, MIM: 304800</li><li>N->D at 55: in XNDI, MIM: 304800</li><li>N->H at 55: in XNDI, MIM: 304800</li><li>L->P at 59: in XNDI, MIM: 304800</li><li>A->V at 61, MIM: 304800</li><li>Missing  at 62-64: in XNDI, MIM: 304800</li><li>L->P at 62: in XNDI, MIM: 304800</li><li>R->W at 64, MIM: 304800</li><li>H->R at 80: in XNDI, MIM: 304800</li><li>L->F at 81: in XNDI, MIM: 304800</li><li>L->P at 83: in XNDI, MIM: 304800</li><li>L->Q at 83: in XNDI, MIM: 304800</li><li>A->D at 84: in XNDI, MIM: 304800</li><li>D->N at 85: in XNDI, MIM: 304800</li><li>V->M at 88: in XNDI, MIM: 304800</li><li>Q->R at 92: in XNDI, MIM: 304800</li><li>L->Q at 94: in XNDI, MIM: 304800</li><li>P->L at 95: in XNDI, MIM: 304800</li><li>W->R at 99: in XNDI, MIM: 304800</li><li>R->C at 104: in XNDI; binding capacity is 10% of wild-type, but binding affinity is stronger than wild-type, MIM: 304800</li><li>F->V at 105: in XNDI, MIM: 304800</li><li>R->C at 106: in XNDI, MIM: 304800</li><li>G->E at 107: in XNDI, MIM: 304800</li><li>C->R at 112: in XNDI, MIM: 304800</li><li>C->Y at 112: in XNDI, MIM: 304800</li><li>R->W at 113: in XNDI; dbSNP:rs28935496, MIM: 304800</li><li>G->R at 122: in XNDI, MIM: 304800</li><li>M->K at 123: in XNDI, MIM: 304800</li><li>S->F at 126: in XNDI, MIM: 304800</li><li>S->F at 127: in XNDI, MIM: 304800</li><li>Y->S at 128: in XNDI, MIM: 304800</li><li>I->F at 130: in XNDI, MIM: 304800</li><li>A->D at 132: in XNDI, MIM: 304800</li><li>L->P at 135: in XNDI, MIM: 304800</li><li>R->C at 137: in NSIAD; constitutively active, MIM: 300539</li><li>R->H at 137: in XNDI; fails to activate the adenylyl cyclase system, MIM: 304800</li><li>R->L at 137: in NSIAD; constitutively active, MIM: 300539</li><li>R->S at 139, MIM: 300539</li><li>R->P at 143: in XNDI, MIM: 304800</li><li>A->V at 147: in dbSNP:rs5200, MIM: 304800</li><li>A->P at 163: in XNDI, MIM: 304800</li><li>W->S at 164: in XNDI, MIM: 304800</li><li>S->L at 167: in XNDI, MIM: 304800</li><li>S->T at 167: in XNDI, MIM: 304800</li><li>P->S at 173: in XNDI, MIM: 304800</li><li>Q->L at 174: in XNDI, MIM: 304800</li><li>R->C at 181: in XNDI, MIM: 304800</li><li>G->C at 185: in XNDI, MIM: 304800</li><li>D->G at 191: in XNDI, MIM: 304800</li><li>G->D at 201: in XNDI, MIM: 304800</li><li>R->C at 202: in XNDI, MIM: 304800</li><li>R->C at 203: in XNDI, MIM: 304800</li><li>T->N at 204: in XNDI, MIM: 304800</li><li>Y->C at 205: in XNDI, MIM: 304800</li><li>V->D at 206: in XNDI, MIM: 304800</li><li>T->N at 207: in XNDI, MIM: 304800</li><li>I->F at 209: in XNDI, MIM: 304800</li><li>F->S at 214: in XNDI, MIM: 304800</li><li>V->M at 215, MIM: 304800</li><li>P->T at 217: in XNDI, MIM: 304800</li><li>L->P at 219: in XNDI, MIM: 304800</li><li>L->R at 219: in XNDI, MIM: 304800</li><li>Missing  at 247-250: in XNDI, MIM: 304800</li><li>R->H at 247: in a breast cancer sample; somatic mutation, MIM: 304800</li><li>R->W at 252, MIM: 304800</li><li>M->K at 272: in XNDI, MIM: 304800</li><li>V->A at 277: in XNDI, MIM: 304800</li><li>Missing  at 277: in CDNI, MIM: 304800</li><li>Y->C at 280: in CDNI, MIM: 304800</li><li>L->P at 282: in XNDI, MIM: 304800</li><li>A->P at 285: in CDNI, MIM: 304800</li><li>P->L at 286: in XNDI, MIM: 304800</li><li>P->R at 286: in XNDI, MIM: 304800</li><li>P->S at 286: in XNDI, MIM: 304800</li><li>F->L at 287: in XNDI, MIM: 304800</li><li>L->P at 289: in XNDI, MIM: 304800</li><li>L->P at 292: in XNDI, MIM: 304800</li><li>A->P at 294: in XNDI, MIM: 304800</li><li>L->P at 309: in XNDI, MIM: 304800</li><li>L->R at 309: in XNDI, MIM: 304800</li><li>S->R at 315: in XNDI, MIM: 304800</li><li>N->K at 317: in XNDI, MIM: 304800</li><li>S->T at 318, MIM: 304800</li><li>C->R at 319: in XNDI, MIM: 304800</li><li>N->D at 321: in XNDI, MIM: 304800</li><li>N->K at 321: in XNDI, MIM: 304800</li><li>N->Y at 321: in XNDI, MIM: 304800</li><li>P->H at 322: in XNDI, MIM: 304800</li><li>P->S at 322: in XNDI, MIM: 304800</li><li>W->R at 323: in XNDI, MIM: 304800</li><li>W->S at 323: in XNDI, MIM: 304800</li><li>G->D at 352, MIM: 304800</li>	localization	GO:0051179	binding	GO:0005488	cell surface	GO:0009928,GO:0009986	<li>P30528</li><li>P23466</li><li>P00936</li><li>Q59685</li><li>Q9WXC3</li><li>Q99279</li><li>P0A1A7</li><li>P0A1A8</li><li>Q05766</li><li>Q57506</li><li>P40134</li><li>Q99280</li><li>P40135</li><li>Q26896</li><li>P40130</li><li>P14605</li><li>Q59119</li><li>P40136</li><li>P26338</li><li>P43524</li><li>P27580</li><li>P08678</li><li>P40127</li><li>Q03101</li><li>Q8XAP1</li><li>Q03100</li><li>Q8FBP0</li><li>P0A4Y1</li><li>P0A4Y0</li><li>P15318</li><li>Q01513</li><li>P59739</li><li>P49606</li><li>Q26721</li><li>Q25263</li><li>Q01631</li><li>Q99396</li><li>Q27675</li>	<li>Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539]</li><li>Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]</li>	<li>rs28935496</li><li>rs2071126</li><li>rs5200</li><li>rs5198</li><li>rs5196</li>	3
P30530	558	<ul><li>E->R at 56: Slightly reduced affinity for GAS6</li><li>E->R at 59: Reduced affinity for GAS6</li><li>T->R at 77: Reduced affinity for GAS6</li></ul>	<li>T->M at 105</li><li>R->W at 288: in a lung neuroendocrine carcinoma sample; somatic mutation</li><li>R->C at 492: in a gastric adenocarcinoma sample; somatic mutation</li><li>S->G at 508: in dbSNP rsrs35538872</li>							Q14393		rs35538872	3
P30533	4043	<ul><li>H->A at 283: Strongly reduced interaction with LRP1; when associated with A-291; A-293; A-302; A-307 and A-341</li><li>H->A at 291: Strongly reduced interaction with LRP1; when associated with A-283; A-293; A-302; A-307 and A-341</li><li>H->A at 293: Strongly reduced interaction with LRP1; when associated with A-283; A-291; A-302; A-307 and A-341</li><li>H->A at 302: Strongly reduced interaction with LRP1; when associated with A-283; A-291; A-293; A-307 and A-341</li><li>H->A at 307: Strongly reduced interaction with LRP1; when associated with A-283; A-291; A-293; A-302 and A-341</li><li>H->A at 341: Strongly reduced interaction with LRP1; when associated with A-283; A-291; A-293; A-302 and A-307</li></ul>	<li>N->S at 114: in dbSNP:rs2228158</li><li>V->M at 311: in dbSNP:rs1800493</li>							<li>Q07954</li><li>P98157</li>		<li>rs1800493</li><li>rs2228158</li>	3
P31350	6241	<ul><li>S->A at 20: Enhances inhibitory effect on Wnt signaling</li><li>S->E at 20: Prevents inhibitory effect on Wnt signaling</li></ul>											1
P31689	3301	<ul><li>C->S at 394: Loss of farnesylation</li></ul>											1
P31749	207	<ul><li>T->D at 308: 5-fold activation and 18-fold activation; when associated with D-473</li><li>S->D at 473: 7-fold activation and 25-fold activation; when associated with D-308</li><li>Y->F at 474: 55% inhibition of activation</li></ul>	<li>V->A at 167: in dbSNP:rs11555433</li>									rs11555433	3
P31751	208	<ul><li>T->E at 309: Constitutively active; when associated with D-474</li><li>S->D at 474: Constitutively active; when associated with E-309</li></ul>	<li>I->V at 188: in dbSNP rsrs55859611</li><li>R->K at 208: in dbSNP:rs35817154</li>									<li>rs55859611</li><li>rs35817154</li>	3
P33032	4161	<ul><li>Q->K at 235: 10% increase of binding to alpha-MSH</li><li>R->C at 272: 690% increase of binding to alpha-MSH</li></ul>	<li>F->L at 209: in dbSNP:rs2236700</li>			binding	GO:0005488			<li>P68000</li><li>P68001</li><li>Q9YGK2</li><li>Q9YGK4</li><li>P22923</li><li>P10000</li><li>P01189</li><li>P01197</li><li>P01196</li><li>P87352</li><li>P01194</li><li>P01193</li><li>P01192</li><li>P01191</li><li>P01190</li><li>P19402</li><li>P61281</li><li>P41589</li><li>P01201</li><li>Q91082</li><li>P61280</li><li>P06298</li><li>P06297</li><li>P11280</li><li>Q9YGK5</li><li>P11885</li><li>P06299</li><li>P21252</li>		rs2236700	3
P33527	4363	<ul><li>Q->A at 580: No effect</li><li>T->A at 581: No effect</li><li>S->A at 585: No effect</li><li>N->A at 597: Increases resistance to vincristine and decreases resistance to VP-16</li><li>S->A at 604: Increases estradiol glucuronide transport</li><li>S->A at 605: Decreases resistance to vincristine, VP-16 and doxorubicin</li><li>D->A at 792: Only partially affects protein maturation; impairs leukotriene C4 transport</li><li>D->L at 792: Impairs protein maturation and leukotriene C4 transport</li><li>D->L at 793: No effect on protein maturation and leukotriene C4 transport</li><li>R->D at 1046: Slightly impairs leukotriene C4 and estradiol glucuronide transport</li><li>D->R at 1084: Impairs leukotriene C4 and estradiol glucuronide transport</li><li>E->A,L,N,Q at 1089: Decreases resistance to anthracyclines</li><li>E->D at 1089: No effect</li><li>E->K at 1089: Abolishes resistance to anthracyclines</li><li>R->E at 1131: Slightly impairs leukotriene C4 and estradiol glucuronide transport</li><li>W->A,F,Y at 1246: Impairs estradiol glucuronide transport</li><li>W->C at 1246: Impairs estradiol glucuronide transport; loss of resistance to alkaloid vincristine, cationic anthracyclines, epipodophyllotoxin VP-16, but not potassium antimony tartrate; partial loss of resistance to sodium arsenite</li><li>K->L at 1333: Impairs leukotriene C4 transport</li><li>DE->LL at 1454-1455: Impairs leukotriene C4 transport</li></ul>	<li>C->S at 43: in dbSNP rsrs41395947</li><li>T->I at 73: in dbSNP rsrs41494447</li><li>T->M at 117</li><li>R->S at 433: in dbSNP rsrs60782127</li><li>R->Q at 633</li><li>G->V at 671: no effect on leukotriene C4 and estradiol glucuronide transport: in dbSNP rsrs45511401</li><li>R->Q at 723: in dbSNP:rs4148356</li><li>R->Q at 1058: in dbSNP rsrs41410450</li><li>S->L at 1512</li>	<li>transport</li><li>glucuronide transport</li>	<li>GO:0006810</li><li>GO:0015779</li>							<li>rs41410450</li><li>rs60782127</li><li>rs41395947</li><li>rs4148356</li><li>rs45511401</li><li>rs41494447</li>	3
P34913	2053	<ul><li>D->A at 9: Loss of phosphatase activity</li></ul>	<li>K->R at 55: in dbSNP:rs41507953</li><li>R->C at 103: in dbSNP:rs17057255</li><li>R->Q at 287: in dbSNP:rs751141</li><li>R->RR at 403</li>							<li>Q7M7K5</li><li>Q5X1E5</li><li>Q7MAZ9</li><li>Q8XBL4</li><li>Q7MBF4</li><li>Q5P3T0</li><li>Q88A53</li><li>Q5PC82</li><li>Q8Z3M9</li><li>Q821A6</li><li>Q5ZRX9</li><li>Q87SK9</li><li>Q9JZ88</li><li>Q9CP21</li><li>Q82U82</li><li>Q9I5V3</li><li>Q5F8K9</li><li>Q63YC3</li><li>Q8Y395</li><li>Q6LV05</li><li>Q8ZLY4</li><li>Q6FA38</li><li>Q9PDL7</li><li>Q62EU1</li><li>Q9JUB2</li><li>Q5WT58</li><li>Q665U9</li><li>Q57JQ5</li><li>Q9KPC6</li><li>Q8CWL6</li><li>Q8P5D4</li><li>Q8PPG9</li><li>P06961</li><li>P45269</li><li>Q88QU2</li><li>Q9L7A3</li><li>Q6D160</li><li>Q87DS9</li><li>Q60CQ4</li><li>Q8ZI64</li><li>Q65Q41</li><li>Q5E2K7</li><li>Q8CXX6</li>		<li>rs751141</li><li>rs41507953</li><li>rs17057255</li>	3
P35125	9098	<ul><li>T->R at 150: Does not restore GAP activity in yeast complementation assay</li><li>R->Q at 187: Does not restore GAP activity in yeast complementation assay</li></ul>	<li>W->R at 475: in dbSNP:rs8073787</li><li>R->Q at 912: in dbSNP:rs9899177</li><li>I->V at 1330: in dbSNP:rs1053611</li>							<li>P20936</li><li>Q92263</li><li>P09851</li><li>Q92211</li><li>Q5PEA9</li><li>P74873</li><li>P74851</li><li>P50904</li>		<li>rs8073787</li><li>rs9899177</li><li>rs1053611</li>	3
P35222	1499	<ul><li>S->F at 29: No effect</li><li>F->A at 253: Abolishes or strongly reduces AXIN2 binding</li><li>H->A at 260: Abolishes or strongly reduces AXIN1 and AXIN2 binding. Strongly reduces phosphorylation and degradation; when associated with A-386 and A-383</li><li>K->A at 292: Abolishes or strongly reduces AXIN1 and AXIN2 binding</li><li>K->E at 312: Abolishes TCF7L2 binding</li><li>K->A at 345: Abolishes APC binding</li><li>W->A at 383: Abolishes APC binding. Strongly reduces phosphorylation and degradation; when associated with A-260 and A-386</li><li>R->A at 386: Strongly reduces APC binding. Strongly reduces phosphorylation and degradation; when associated with A-260 and A-383</li><li>N->A at 426: Abolishes TCF7L2 and LEF1 binding</li><li>K->A at 435: Strongly reduces or abolishes LEF1 binding</li><li>K->E at 435: Abolishes TCF7L2 binding</li><li>R->A at 469: Abolishes TCF7L2 binding, and strongly reduces or abolishes LEF1 binding</li><li>H->A at 470: Abolishes TCF7L2 binding, and strongly reduces or abolishes LEF1 binding</li><li>K->A at 508: Abolishes TCF7L2 and LEF1 binding</li><li>Y->E at 654: Enhances TBP binding and transactivation of target genes</li><li>Y->F at 654: Abolishes increase of TBP binding after phosphorylation by CSK</li><li>F->A at 660: Abolishes CTNNBIP1 binding; when associated with A-661</li><li>R->A at 661: Abolishes CTNNBIP1 binding; when associated with A-660</li></ul>	<li>S->R at 23: in hepatocellular carcinoma; no effect</li><li>Missing  at 25-33: in hepatocellular carcinoma</li><li>D->A at 32: in hepatocellular carcinoma</li><li>D->G at 32: in PTR and hepatocellular carcinoma, MIM: 132600</li><li>D->Y at 32: in PTR, hepatoblastoma and hepatocellular carcinoma: in dbSNP rsrs28931588, MIM: 132600</li><li>S->F at 33: in PTR, MDB and hepatocellular carcinoma, MIM: 132600</li><li>S->L at 33: in hepatocellular carcinoma, MIM: 132600</li><li>S->Y at 33: in PTR; enhances transactivation of target genes, MIM: 132600</li><li>G->E at 34: in PTR, MIM: 132600</li><li>G->R at 34: in hepatocellular carcinoma, MIM: 132600</li><li>G->V at 34: in hepatoblastoma: in dbSNP rsrs28931589, MIM: 132600</li><li>I->S at 35: in hepatocellular carcinoma, MIM: 132600</li><li>SG->W at 37-38: in hepatocellular carcinoma, MIM: 132600</li><li>S->A at 37: in MDB and hepatocellular carcinoma; enhances transactivation of target genes, MIM: 155255</li><li>S->C at 37: in PTR and hepatoblastoma, MIM: 132600</li><li>S->F at 37: in PTR, MIM: 132600</li><li>S->Y at 37: in hepatocellular carcinoma, MIM: 132600</li><li>T->A at 41: in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes, MIM: 132600</li><li>T->I at 41: in PTR and hepatocellular carcinoma, MIM: 132600</li><li>S->F at 45: in hepatocellular carcinoma, MIM: 132600</li><li>S->P at 45: in hepatocellular carcinoma, MIM: 132600</li><li>M->V at 688: in dbSNP:rs4135384, MIM: 132600</li>	phosphorylation	GO:0016310	binding	GO:0005488			<li>Q12731</li><li>O29874</li><li>P58178</li><li>P58177</li><li>O15169</li><li>Q57930</li><li>P41240</li><li>Q8TX38</li><li>Q8ZVR0</li><li>P53360</li><li>O27664</li><li>Q9P9I9</li><li>P13393</li><li>O43133</li><li>P25054</li><li>Q9UJU2</li><li>O23894</li><li>Q9V024</li><li>Q92117</li><li>Q9NQB0</li><li>Q92146</li><li>P26354</li><li>P26355</li><li>Q971V3</li><li>Q9YAT1</li><li>P93348</li><li>Q42808</li><li>Q9Y2T1</li><li>P62001</li><li>P62000</li><li>Q9NSA3</li><li>Q27850</li><li>O13270</li><li>Q0VBZ0</li><li>P46272</li><li>O17488</li><li>P48511</li><li>Q9YGV8</li><li>Q978J5</li><li>O58737</li><li>P26357</li><li>Q56253</li><li>P18168</li><li>O74045</li><li>Q9HLM8</li><li>Q52366</li><li>P41239</li><li>P32085</li><li>P32086</li><li>P20226</li><li>Q6M0L3</li><li>P52653</li><li>P17871</li><li>Q9UWN7</li><li>Q6L1R1</li><li>P91809</li><li>Q55031</li><li>P53361</li>	<li>Medulloblastoma (MDB) [MIM:155255]</li><li>Pilomatrixoma (PTR) [MIM:132600]</li>	<li>rs28931588</li><li>rs28931589</li><li>rs4135384</li>	3
P35236	5778	<ul><li>S->A at 44: Prevents dissociation of bound MAP kinase and enhances their dephosphorylation</li><li>S->D at 44: Reduces binding of MAP kinase</li><li>T->A at 66: Prevents dissociation of bound MAP kinase and enhances their dephosphorylation; when associated with A-93</li><li>S->A at 93: Prevents dissociation of bound MAP kinase and enhances their dephosphorylation; when associated with A-66</li><li>Y->A at 125: Strongly reduced catalytic activity</li><li>D->A at 257: Loss of catalytic activity</li><li>C->S at 291: Loss of catalytic activity</li><li>Q->A at 335: Reduced catalytic activity</li></ul>		dephosphorylation	GO:0016311	<li>binding</li><li>catalytic activity</li>	<li>GO:0005488</li><li>GO:0003824</li>						1
P35240	4771	<ul><li>L->P at 64: Abolishes binding to AGAP2</li></ul>	<li>L->R at 46: in vestibular schwannoma</li><li>F->S at 62: in NF2, MIM: 101000</li><li>M->V at 77: in NF2, MIM: 101000</li><li>K->E at 79: in vestibular schwannoma, MIM: 101000</li><li>Missing  at 96: in NF2 and in sporadic meningioma, MIM: 101000</li><li>E->G at 106: in NF2, MIM: 101000</li><li>L->I at 117: in sporadic meningioma, MIM: 101000</li><li>Missing  at 119: in sporadic meningioma, MIM: 101000</li><li>Missing  at 122-129: in sporadic meningioma, MIM: 101000</li><li>L->P at 141: in NF2, MIM: 101000</li><li>G->C at 197: in NF2, MIM: 101000</li><li>V->M at 219: in vestibular schwannoma, MIM: 101000</li><li>N->Y at 220: in NF2, MIM: 101000</li><li>L->R at 234: in NF2 and in retinal hamartoma; severe, MIM: 101000</li><li>I->F at 273: in breast ductal carcinoma, MIM: 101000</li><li>L->F at 339: in sporadic meningioma, MIM: 101000</li><li>Q->H at 344: in dbSNP:rs2229064, MIM: 101000</li><li>R->H at 351, MIM: 101000</li><li>T->M at 352: in NF2, MIM: 101000</li><li>L->P at 360: in NF2, MIM: 101000</li><li>K->I at 364: in melanoma, MIM: 101000</li><li>K->E at 413: in NF2, MIM: 101000</li><li>R->C at 418: in vestibular schwannoma, MIM: 101000</li><li>E->K at 463: in a breast cancer sample; somatic mutation, MIM: 101000</li><li>K->T at 533: in NF2, MIM: 101000</li><li>L->P at 535: in NF2; late onset, MIM: 101000</li><li>Q->P at 538: in NF2; mild, MIM: 101000</li><li>L->H at 539: in NF2, MIM: 101000</li><li>K->M at 579: in NF2, MIM: 101000</li>			binding	GO:0005488			<li>P59750</li><li>P35240</li><li>Q99490</li>	Neurofibromatosis 2 (NF2) [MIM:101000]	rs2229064	3
P35269	2962	<ul><li>S->A at 385: Eliminates putative kinase activity; when associated with A-389</li><li>T->A at 389: Eliminates putative kinase activity; when associated with A-385</li></ul>	<li>A->V at 3: in dbSNP:rs34826931</li>			kinase activity	GO:0016301					rs34826931	3
P35270	6697	<ul><li>S->A at 213: Abolishes phosphorylation by CaMK2. No effect on kinetic parameters</li></ul>		phosphorylation	GO:0016310								1
P35520	875	<ul><li>C->A at 272: Reduced heme content and cystathionine beta-synthase activity</li><li>C->S at 275: Reduced heme content and cystathionine beta-synthase activity</li></ul>	<li>R->C at 18: associated with 1/3 to 2/3 the enzyme activity of the wild-type</li><li>P->L at 49: in CBSD, MIM: 236200</li><li>R->W at 58: in CBSD; 18% of activity; linked with Val-113, MIM: 236200</li><li>H->R at 65: in CBSD, MIM: 236200</li><li>A->P at 69: in dbSNP:rs17849313, MIM: 236200</li><li>P->R at 78: in CBSD; 50% of activity; severe form, MIM: 236200</li><li>G->R at 85: in CBSD; loss of activity, MIM: 236200</li><li>P->S at 88: in CBSD, MIM: 236200</li><li>L->P at 101: in CBSD; common mutation in Irish population; loss of activity, MIM: 236200</li><li>K->N at 102: in CBSD; 50% of activity, MIM: 236200</li><li>K->Q at 102: in CBSD; severe form; linked with Arg-77; dbSNP:rs34040148, MIM: 236200</li><li>C->R at 109: in CBSD; loss of activity, MIM: 236200</li><li>A->V at 114: in CBSD; mild form; when linked with W-58 severe form; partial loss of activity; affects tetramer formation by promoting formation of larger aggregates, MIM: 236200</li><li>G->R at 116: in CBSD, MIM: 236200</li><li>R->C at 121: in CBSD, MIM: 236200</li><li>R->H at 121: in CBSD, MIM: 236200</li><li>R->L at 121: in CBSD; mild form, MIM: 236200</li><li>R->P at 125: in CBSD, MIM: 236200</li><li>R->Q at 125: in CBSD; severe form; loss of activity; when linked with D-132 moderate form, MIM: 236200</li><li>R->W at 125: in CBSD; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure, MIM: 236200</li><li>M->V at 126: in CBSD; loss of activity, MIM: 236200</li><li>E->D at 128: in CBSD, MIM: 236200</li><li>E->D at 131: in CBSD; loss of activity; linked with Q-125, MIM: 236200</li><li>G->R at 139: in CBSD; mild form, MIM: 236200</li><li>I->M at 143: in CBSD; 4% of activity; stable, MIM: 236200</li><li>E->K at 144: in CBSD; loss of activity, MIM: 236200</li><li>P->L at 145: in CBSD; linked with Q-438, MIM: 236200</li><li>G->R at 148: in CBSD; loss of activity; absent capacity to form multimeric quaternary structure, MIM: 236200</li><li>Missing  at 151-159: in CBSD, MIM: 236200</li><li>G->R at 151: in CBSD, MIM: 236200</li><li>I->M at 152: in CBSD; severe form, MIM: 236200</li><li>L->Q at 154: in CBSD; protein expression is comparable to wild-type; significant decrease of enzyme activity, MIM: 236200</li><li>A->T at 155: in CBSD; complete loss of activity; severely affects tetramer formation by promoting formation of larger aggregates, MIM: 236200</li><li>A->V at 155: in CBSD; protein expression is comparable to wild-type; significant decrease of enzyme activity, MIM: 236200</li><li>C->Y at 165: in CBSD; severe form; protein expression is comparable to wild-type; significant decrease of enzyme activity, MIM: 236200</li><li>V->A at 168: in CBSD, MIM: 236200</li><li>V->M at 168: in CBSD, MIM: 236200</li><li>M->V at 173: in CBSD; presents 40% of the wild-type activity; dramatically reduced capacity to form multimeric quaternary structure, MIM: 236200</li><li>E->K at 176: in CBSD; severe form; loss of activity; severely affects tetramer formation by promoting formation of larger aggregates, MIM: 236200</li><li>V->A at 180: in CBSD, MIM: 236200</li><li>T->M at 191: in CBSD; moderate and severe forms; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure, MIM: 236200</li><li>D->V at 198: in CBSD, MIM: 236200</li><li>R->H at 224: in CBSD, MIM: 236200</li><li>A->T at 226: in CBSD; presents 20% of the wild-type activity; dramatically reduced capacity to form multimeric quaternary structure, MIM: 236200</li><li>N->K at 228: in CBSD; loss of activity, MIM: 236200</li><li>N->S at 228: in CBSD; has significantly decreased levels of enzyme activity, MIM: 236200</li><li>A->P at 231: in CBSD; has significantly decreased levels of enzyme activity, MIM: 236200</li><li>D->N at 234: in CBSD, MIM: 236200</li><li>Missing  at 234: in CBSD; protein expression is comparable to wild-type; significant decrease of enzyme activity, MIM: 236200</li><li>E->K at 239: in CBSD, MIM: 236200</li><li>Missing  at 247-256: in CBSD, MIM: 236200</li><li>T->M at 257: in CBSD; moderate to severe form; protein expression is comparable to wild-type; significant decrease of enzyme activity, MIM: 236200</li><li>T->M at 262: in CBSD; moderate form, MIM: 236200</li><li>T->R at 262: in CBSD; severe form, MIM: 236200</li><li>R->G at 266: in CBSD, MIM: 236200</li><li>R->K at 266: in CBSD; mild form: in dbSNP rsrs28934275, MIM: 236200</li><li>Missing  at 270: in CBSD, MIM: 236200</li><li>C->Y at 275: in CBSD; severe form; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure, MIM: 236200</li><ul><li>C->S at 275: Reduced heme content and cystathionine beta-synthase activity</li></ul><li>I->T at 278: in CBSD; mild to severe form; common mutation; loss of activity; severely affects tetramer formation by promoting formation of larger aggregates; dbSNP:rs5742905, MIM: 236200</li></ul><li>A->P at 288: in CBSD, MIM: 236200</li></ul><li>A->T at 288: in CBSD; protein expression is comparable to wild-type; significant decrease of enzyme activity, MIM: 236200</li></ul><li>P->L at 290: in CBSD, MIM: 236200</li></ul><li>E->K at 302: in CBSD; 5% of activity, MIM: 236200</li></ul><li>G->R at 305: in CBSD, MIM: 236200</li></ul><li>G->S at 307: in CBSD; moderate to severe form; linked with D-534; has significantly decreased levels of enzyme activity; common mutation, MIM: 236200</li></ul><li>V->A at 320: in CBSD; has 36% of wild-type enzyme activity, MIM: 236200</li></ul><li>A->E at 331: in CBSD, MIM: 236200</li></ul><li>A->V at 331: in CBSD, MIM: 236200</li></ul><li>R->C at 336: in CBSD; protein expression is comparable to wild-type; loss of activity; absent capacity to form multimeric quaternary structure, MIM: 236200</li></ul><li>R->H at 336: in CBSD; mild form; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure, MIM: 236200</li></ul><li>L->P at 338: in CBSD; severe form; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure, MIM: 236200</li></ul><li>G->S at 347: in CBSD; protein expression is comparable to wild-type; loss of activity, MIM: 236200</li></ul><li>S->N at 349: in CBSD; severe form; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure, MIM: 236200</li></ul><li>S->N at 352: in CBSD, MIM: 236200</li></ul><li>T->M at 353: in CBSD; protein expression is comparable to wild-type; significant decrease of enzyme activity, MIM: 236200</li></ul><li>V->M at 354: in CBSD, MIM: 236200</li></ul><li>A->P at 355: in CBSD, MIM: 236200</li></ul><li>A->T at 361: in CBSD, MIM: 236200</li></ul><li>R->C at 369: in CBSD; when linked with C-491 severe form, MIM: 236200</li></ul><li>R->H at 369: in CBSD; dbSNP:rs11700812, MIM: 236200</li></ul><li>C->Y at 370: in CBSD, MIM: 236200</li></ul><li>V->M at 371: in CBSD, MIM: 236200</li></ul><li>D->N at 376: in CBSD; has significantly decreased levels of enzyme activity, MIM: 236200</li></ul><li>R->Q at 379: in CBSD; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure, MIM: 236200</li></ul><li>R->W at 379: in CBSD, MIM: 236200</li></ul><li>K->E at 384: in CBSD; severe form, MIM: 236200</li></ul><li>K->N at 384: in CBSD; moderate form, MIM: 236200</li></ul><li>M->I at 391: in CBSD, MIM: 236200</li></ul><li>P->L at 422: in CBSD; increased activity; does not affect tetramer formation; impaired stimulation by S-adenosylmethionine: in dbSNP rsrs28934892, MIM: 236200</li></ul><li>T->N at 434: in CBSD, MIM: 236200</li></ul><li>I->T at 435: in CBSD; does not affect activity; does not affect tetramer formation; impaired stimulation by S-adenosylmethionine, MIM: 236200</li></ul><li>R->Q at 439: in CBSD; linked with K-143, MIM: 236200</li></ul><li>D->N at 444: in CBSD; impaired stimulation by S-adenosylmethionine: in dbSNP rsrs28934891, MIM: 236200</li></ul><li>V->E at 454: in CBSD, MIM: 236200</li></ul><li>L->P at 456: in CBSD; severe; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure, MIM: 236200</li></ul><li>S->L at 466: in CBSD; increased activity; does not affect tetramer formation; impaired stimulation by S-adenosylmethionine, MIM: 236200</li></ul><li>R->C at 491: in CBSD; linked with C-368, MIM: 236200</li></ul><li>Q->K at 526: in CBSD; has significantly decreased levels of enzyme activity, MIM: 236200</li></ul><li>V->D at 534: in CBSD; linked with S-306, MIM: 236200</li></ul><li>L->S at 539: in CBSD, MIM: 236200</li></ul><li>R->Q at 548: presents 60% of the wild-type activity; dramatically reduced capacity to form multimeric quaternary structure, MIM: 236200</li></ul>							<li>Q9N0V7</li><li>P35520</li><li>Q58H57</li><li>Q6G7E9</li><li>P32582</li><li>P60086</li><li>P60087</li><li>P46794</li><li>Q9YBL2</li><li>P60088</li><li>Q6GER3</li><li>Q91WT9</li><li>Q8NVE3</li><li>P32232</li><li>Q4JIM5</li>	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	<li>rs5742905</li><li>rs11700812</li><li>rs28934892</li><li>rs28934275</li><li>rs17849313</li><li>rs28934891</li><li>rs34040148</li>	4
P35527	3857	<ul><li>R->QHA at 163: Leads to aggregate formation</li></ul>	<li>M->R at 157: in EPPK, MIM: 144200</li><li>M->T at 157: in EPPK: in dbSNP rsrs59510579, MIM: 144200</li><li>M->V at 157: in EPPK: in dbSNP rsrs58597584, MIM: 144200</li><li>L->F at 160: in EPPK; with knuckle pads: in dbSNP rsrs28940896, MIM: 144200</li><li>L->V at 160: in EPPK, MIM: 144200</li><li>N->H at 161: in EPPK, MIM: 144200</li><li>N->I at 161: in EPPK, MIM: 144200</li><li>N->K at 161: in EPPK: in dbSNP rsrs57536312, MIM: 144200</li><li>N->S at 161: in EPPK: in dbSNP rsrs56707768, MIM: 144200</li><li>N->Y at 161: in EPPK: in dbSNP rsrs59296273, MIM: 144200</li><li>R->P at 163: in EPPK, MIM: 144200</li><ul><li>R->QHA at 163: Leads to aggregate formation</li></ul><li>R->Q at 163: in EPPK: in dbSNP rsrs57758262, MIM: 144200</li><ul><li>R->QHA at 163: Leads to aggregate formation</li></ul><li>R->W at 163: in EPPK: in dbSNP rsrs59616921, MIM: 144200</li><ul><li>R->QHA at 163: Leads to aggregate formation</li></ul><li>Y->WL at 167: in EPPK, MIM: 144200</li></ul><li>L->S at 168: in EPPK: in dbSNP rsrs61157095, MIM: 144200</li></ul><li>V->M at 171: in EPPK: in dbSNP rsrs57019720, MIM: 144200</li></ul><li>Q->P at 172: in EPPK: in dbSNP rsrs59878153, MIM: 144200</li></ul><li>L->F at 458: in EPPK: in dbSNP rsrs58120120, MIM: 144200</li></ul>								<li>EPPK [MIM:149100]</li><li>Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]</li>	<li>rs56707768</li><li>rs58120120</li><li>rs59616921</li><li>rs57758262</li><li>rs28940896</li><li>rs59878153</li><li>rs59296273</li><li>rs58597584</li><li>rs57019720</li><li>rs61157095</li><li>rs57536312</li><li>rs59510579</li>	4
P35548	4488	<ul><li>T->A at 147: Does not bind DNA but still suppresses OCFRE activation</li></ul>	<li>T->M at 129: in dbSNP:rs4242182</li><li>P->H at 148: in CRS2; gain of function, MIM: 604757</li><li>L->P at 154: in PFM1, MIM: 168500</li><li>Missing  at 159-160: in PFM1; loss of function, MIM: 168500</li><li>R->H at 172: in PFM1; loss of function, MIM: 168500</li>							Q9UKN5	<li>Craniosynostosis type 2 (CRS2) [MIM:604757]</li><li>Parietal foramina 1 (PFM1) [MIM:168500]</li>	rs4242182	3
P35557	2645	<ul><li>E->K at 177: Small change in activity</li><li>E->A at 256: Inactive enzyme</li><li>K->A at 414: Small change in activity</li></ul>	<li>D->N at 4</li><li>A->T at 11</li><li>R->W at 36: in MODY2, MIM: 125851</li><li>A->S at 53: in MODY2, MIM: 125851</li><li>E->K at 70: in MODY2; large increase in Km for glucose, MIM: 125851</li><li>G->A at 80: in MODY2, MIM: 125851</li><li>G->S at 80: in MODY2, MIM: 125851</li><li>M->T at 107, MIM: 125851</li><li>Y->H at 108: in MODY2, MIM: 125851</li><li>I->T at 110: in MODY2, MIM: 125851</li><li>A->D at 119: in MODY2, MIM: 125851</li><li>S->P at 131: in MODY2; significant increase in the Km and in the affinity for ATP, MIM: 125851</li><li>H->R at 137: in MODY2, MIM: 125851</li><li>F->S at 150: in MODY2, MIM: 125851</li><li>L->P at 164: in MODY2, MIM: 125851</li><li>T->P at 168: in MODY2, MIM: 125851</li><li>G->R at 175: in MODY2, MIM: 125851</li><li>V->M at 182: in MODY2, MIM: 125851</li><li>A->T at 188: in MODY2; large increase in Km for glucose, MIM: 125851</li><li>V->A at 203: in MODY2, MIM: 125851</li><li>T->M at 209: in MODY2, MIM: 125851</li><li>M->K at 210: in MODY2, MIM: 125851</li><li>M->T at 210: in MODY2, MIM: 125851</li><li>C->R at 213: in MODY2, MIM: 125851</li><li>E->K at 221: in MODY2, MIM: 125851</li><li>V->M at 226: in MODY2, MIM: 125851</li><li>G->C at 227: in MODY2, MIM: 125851</li><li>T->M at 228: in MODY2, MIM: 125851</li><li>E->K at 256: in MODY2, MIM: 125851</li><ul><li>E->A at 256: Inactive enzyme</li></ul><li>W->R at 257: in MODY2; almost complete loss of activity, MIM: 125851</li></ul><li>A->T at 259: in MODY2, MIM: 125851</li></ul><li>G->E at 261: in MODY2, MIM: 125851</li></ul><li>G->R at 261: in MODY2, MIM: 125851</li></ul><li>E->Q at 279: in MODY2, MIM: 125851</li></ul><li>G->R at 299: in MODY2, MIM: 125851</li></ul><li>E->K at 300: in MODY2, MIM: 125851</li></ul><li>E->Q at 300: in MODY2, MIM: 125851</li></ul><li>L->P at 309: in MODY2, MIM: 125851</li></ul><li>S->L at 336: in MODY2, MIM: 125851</li></ul><li>V->M at 367: in MODY2, MIM: 125851</li></ul><li>C->Y at 382: in MODY2, MIM: 125851</li></ul><li>A->T at 384: in MODY2, MIM: 125851</li></ul><li>G->V at 385: in MODY2, MIM: 125851</li></ul><li>R->C at 392: in MODY2, MIM: 125851</li></ul><li>K->E at 414: in MODY2; large increase in Km for glucose, MIM: 125851</li><ul><li>K->A at 414: Small change in activity</li></ul><li>V->M at 455: in HHF3, MIM: 602485</li></ul>							Q8NIG3	<li>Familial hyperinsulinemic hypoglycemia type 3 (HHF3) [MIM:602485]</li><li>Maturity onset diabetes of the young type 2 (MODY2) [MIM:125851]</li>		4
P35568	3667	<ul><li>S->A at 794: Loss of phosphorylation by SNF1LK2</li></ul>	<li>P->R at 158: in dbSNP:rs1801108</li><li>M->T at 209: in dbSNP:rs1801118</li><li>A->P at 512: in dbSNP:rs1801276</li><li>T->R at 608: may contribute to insulin resistance by impairing metabolic signaling through PI3K-dependent pathways</li><li>Missing  at 723: in NIDDM</li><li>S->F at 809: in dbSNP:rs1801120</li><li>S->G at 892: in dbSNP:rs1801277</li><li>G->R at 971: in dbSNP:rs1801278</li><li>S->Y at 1043: in NIDDM, MIM: 125853</li><li>C->Y at 1095: in NIDDM, MIM: 125853</li><li>D->N at 1137: in dbSNP:rs3731594, MIM: 125853</li>	phosphorylation	GO:0016310					<li>Q9IA88</li><li>P23727</li><li>Q9Z1L0</li><li>P48736</li><li>P0C236</li><li>P07453</li><li>P42633</li><li>P27986</li><li>P68243</li><li>P68992</li><li>P81423</li><li>P32871</li><li>P54673</li><li>P54675</li><li>P54674</li><li>P26450</li><li>P68245</li><li>P54676</li><li>P69046</li><li>P01316</li><li>P01314</li><li>P01319</li><li>P29335</li><li>P12703</li><li>P18109</li><li>P12704</li><li>P12708</li><li>P67974</li><li>P67973</li><li>P67971</li><li>O35904</li><li>P01330</li><li>P69048</li><li>P69047</li><li>P01324</li><li>O00329</li><li>P42348</li><li>P01320</li><li>P42347</li><li>P01328</li><li>Q5REX1</li><li>Q8UUU2</li><li>Q63787</li><li>Q9H0K1</li><li>Q9TQY7</li><li>P01340</li><li>Q9JHG7</li><li>P67969</li><li>P68990</li><li>P67968</li><li>P68991</li><li>P01336</li><li>P81881</li><li>P68988</li><li>P42338</li><li>P13190</li><li>P01334</li><li>P68987</li><li>O02697</li><li>P42337</li><li>P01331</li><li>P42336</li><li>P09477</li><li>P09476</li><li>P68989</li><li>Q8BTI9</li>	The etiology of non-insulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	<li>rs1801278</li><li>rs1801277</li><li>rs1801118</li><li>rs1801276</li><li>rs1801120</li><li>rs1801108</li><li>rs3731594</li>	3
P35575	2538	<ul><li>H->A at 9: Partial loss of catalytic activity</li><li>H->A at 52: Partial loss of catalytic activity</li><li>K->N at 76: Loss of catalytic activity</li><li>H->A at 119: Loss of catalytic activity</li><li>R->Q at 170: Loss of catalytic activity</li><li>H->A at 176: Loss of catalytic activity</li><li>H->A at 179: Loss of catalytic activity</li><li>H->T at 197: Partial loss of catalytic activity</li><li>H->A at 252: Partial loss of catalytic activity</li><li>H->A at 307: Partial loss of catalytic activity</li><li>H->A at 353: Partial loss of catalytic activity</li></ul>	<li>M->R at 5: in GSD1A, MIM: 232200</li><li>T->A at 16: in GSD1A, MIM: 232200</li><li>T->R at 16: in GSD1A; abolishes enzyme activity as well as reduces enzyme stability, MIM: 232200</li><li>Q->R at 20: in GSD1A, MIM: 232200</li><li>D->V at 38: in GSD1A, MIM: 232200</li><li>Q->P at 54: in GSD1A, MIM: 232200</li><li>W->R at 63: in GSD1A, MIM: 232200</li><li>A->P at 65: in GSD1A, MIM: 232200</li><li>G->R at 68: in GSD1A, MIM: 232200</li><li>K->N at 76: in GSD1A, MIM: 232200</li><ul><li>K->N at 76: Loss of catalytic activity</li></ul><li>W->R at 77: in GSD1A, MIM: 232200</li></ul><li>G->R at 81: in GSD1A, MIM: 232200</li></ul><li>R->C at 83: in GSD1A; loss of catalytic activity; dbSNP:rs1801175, MIM: 232200</li></ul><li>R->H at 83: in GSD1A; dbSNP:rs1801176, MIM: 232200</li></ul><li>R->I at 83: in GSD1A, MIM: 232200</li></ul><li>T->I at 108: in GSD1A, MIM: 232200</li></ul><li>E->K at 110: in GSD1A, MIM: 232200</li></ul><li>T->I at 111: in GSD1A, MIM: 232200</li></ul><li>P->L at 113: in GSD1A, MIM: 232200</li></ul><li>P->L at 116: in a breast cancer sample; somatic mutation, MIM: 232200</li></ul><li>H->L at 119: in GSD1A, MIM: 232200</li><ul><li>H->A at 119: Loss of catalytic activity</li></ul><li>G->D at 122: in GSD1A, MIM: 232200</li></ul><li>A->T at 124: in GSD1A, MIM: 232200</li></ul><li>W->L at 156: in GSD1A, MIM: 232200</li></ul><li>V->A at 166: in GSD1A, MIM: 232200</li></ul><li>V->G at 166: in GSD1A, MIM: 232200</li></ul><li>R->Q at 170: in GSD1A, MIM: 232200</li><ul><li>R->Q at 170: Loss of catalytic activity</li></ul><li>F->C at 177: in GSD1A, MIM: 232200</li></ul><li>P->S at 178: in GSD1A, MIM: 232200</li></ul><li>H->P at 179: in GSD1A, MIM: 232200</li><ul><li>H->A at 179: Loss of catalytic activity</li></ul><li>G->E at 184: in GSD1A, MIM: 232200</li></ul><li>G->V at 184: in GSD1A, MIM: 232200</li></ul><li>G->D at 188: in GSD1A, MIM: 232200</li></ul><li>G->R at 188: in GSD1A, MIM: 232200</li></ul><li>G->S at 188: in GSD1A, MIM: 232200</li></ul><li>Y->C at 209: in GSD1A; abolishes enzyme activity as well as reduces enzyme stability, MIM: 232200</li></ul><li>L->P at 211: in GSD1A, MIM: 232200</li></ul><li>G->R at 222: in GSD1A, MIM: 232200</li></ul><li>W->R at 236: in GSD1A, MIM: 232200</li></ul><li>A->T at 241: in GSD1A, MIM: 232200</li></ul><li>P->L at 257: in GSD1A, MIM: 232200</li></ul><li>N->K at 264: in GSD1A, MIM: 232200</li></ul><li>L->P at 265: in GSD1A, MIM: 232200</li></ul><li>G->V at 266: in GSD1A, MIM: 232200</li></ul><li>G->R at 270: in GSD1A, MIM: 232200</li></ul><li>G->V at 270: in GSD1A, MIM: 232200</li></ul><li>G->W at 270: in GSD1A, MIM: 232200</li></ul><li>R->C at 295: in GSD1A, MIM: 232200</li></ul><li>S->P at 298: in GSD1A, MIM: 232200</li></ul><li>F->L at 322: in GSD1A, MIM: 232200</li></ul><li>Missing  at 327: in GSD1A, MIM: 232200</li></ul><li>V->F at 338: in GSD1A, MIM: 232200</li></ul><li>I->N at 341: in GSD1A, MIM: 232200</li></ul><li>L->R at 345: in GSD1A, MIM: 232200</li></ul>			catalytic activity	GO:0003824				Glycogen storage disease type 1A (GSD1A) [MIM:232200]	<li>rs1801176</li><li>rs1801175</li>	4
P35611	118	<ul><li>T->D at 445: Abolishes phosphorylation by ROCK1; when associated with D-480</li><li>T->D at 480: Abolishes phosphorylation by ROCK1; when associated with D-445</li></ul>	<li>R->C at 6: in dbSNP:rs2295497</li><li>Y->N at 270: in dbSNP:rs4971</li><li>E->D at 376: in dbSNP:rs4972</li><li>G->W at 460: in dbSNP:rs4961</li><li>N->I at 510: in dbSNP:rs4962</li><li>S->C at 586: in dbSNP:rs4963</li>	phosphorylation	GO:0016310					<li>Q8MIT6</li><li>Q13464</li><li>P61584</li><li>O77819</li>		<li>rs2295497</li><li>rs4962</li><li>rs4971</li><li>rs4963</li><li>rs4972</li><li>rs4961</li>	3
P35712	55553	<ul><li>K->R at 404: Partial loss of sumoylation. Complete loss of sumoylation; when associated with R-417</li><li>K->R at 417: Partial loss of sumoylation. Complete loss of sumoylation; when associated with R-404</li></ul>		sumoylation	GO:0016925								1
P35869	196	<ul><li>V->A at 381: Increases specific ligand binding</li><li>V->D at 381: Abolishes specific ligand binding</li><li>V->L,G at 381: No effect on specific ligand binding</li></ul>	<li>P->S at 517</li><li>R->K at 554: in dbSNP:rs2066853</li><li>V->I at 570: in dbSNP:rs4986826</li><li>M->V at 786</li>			binding	GO:0005488					<li>rs2066853</li><li>rs4986826</li>	3
P35900	54474	<ul><li>S->A at 13: Promotes keratin filament disassembly</li><li>S->A at 14: No effect on keratin filament organization</li><li>R->H at 80: Leads to collapsed filaments</li></ul>	<li>S->R at 4: in a colorectal cancer sample; somatic mutation</li><li>S->N at 129: in dbSNP:rs7212483</li>					keratin filament	GO:0045095			rs7212483	3
P36404	402	<ul><li>Q->L at 70: Cell cycle arrest, reduced ability to form microtubules, and centrosome fragmentation</li></ul>	<li>V->A at 141: in dbSNP:rs664226</li>	Cell cycle arrest	GO:0007050			<li>centrosome</li><li>microtubules</li>	<li>GO:0005813</li><li>GO:0005874</li>			rs664226	3
P36406	373	<ul><li>T->N at 418: Maintains GTPase activity. Increases interaction with PSCD1</li><li>K->I at 458: Suppresses GTPase activity. Decreases interaction with PSCD1</li></ul>	<li>D->N at 480: in dbSNP:rs34046496</li>			GTPase activity	GO:0003924			<li>Q76MZ1</li><li>Q15438</li>		rs34046496	3
P36873	5501	<ul><li>C->A,S,L at 273: Abolishes interaction with microcystin toxin</li></ul>	<li>F->S at 152: in dbSNP:rs11558237</li>									rs11558237	3
P36897	7046	<ul><li>TT->VV at 185-186: Loss of phosphorylation on threonine residues. Loss of threonine phosphorylation, reduced phosphorylation on serine residues and loss of response to TGF-beta; when associated with A-187; A-189 and A-191</li><li>S->A at 187: Loss of threonine phosphorylation, reduced phosphorylation on serine residues and loss of response to TGF-beta; when associated with 185-VV-186; A-189 and A-191</li><li>S->A at 189: Loss of threonine phosphorylation, reduced phosphorylation on serine residues and loss of response to TGF-beta; when associated with 185-VV-186; A-187 and A-191</li><li>S->A at 191: Loss of threonine phosphorylation, reduced phosphorylation on serine residues and loss of response to TGF-beta; when associated with 185-VV-186; A-187 and A-189</li><li>T->D at 200: Loss of response to TGF-beta</li><li>T->V at 200: Loss of phosphorylation. Loss of response to TGF-beta</li><li>T->D at 204: Constitutive activation</li><li>T->V at 204: Reduced phosphorylation. Reduced response to TGF-beta</li></ul>	<li>Missing  at 24-26: in allele TGFBR1*6A; could be a tumor susceptibility allele</li><li>A->AA at 26: in allele TGFBR1*10A; rare polymorphism</li><li>I->V at 139</li><li>V->I at 153: in dbSNP rsrs56014374</li><li>T->I at 200: in LDS1A, MIM: 609192</li><ul><li>T->D at 200: Loss of response to TGF-beta</li><li>T->V at 200: Loss of phosphorylation. Loss of response to TGF-beta</li></ul><li>K->E at 232: in LDS2A, MIM: 608967</li></ul><li>S->L at 241: in LDS1A, MIM: 609192</li></ul><li>N->H at 267: in a patient with Marfan syndrome, MIM: 609192</li></ul><li>Y->C at 291: in dbSNP rsrs35974499, MIM: 609192</li></ul><li>M->R at 318: in LDS1A, MIM: 609192</li></ul><li>D->G at 400: in LDS1A, MIM: 609192</li></ul><li>R->P at 487: in LDS1A and LDS2A, MIM: 608967</li></ul><li>R->Q at 487: in LDS2A and AAT5, MIM: 608967</li></ul><li>R->W at 487: in LDS2A, MIM: 608967</li></ul>	phosphorylation	GO:0016310					<li>Q5CD18</li><li>P36897</li><li>O46680</li>	<li>Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]</li><li>Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]</li><li>Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]</li>	<li>rs35974499</li><li>rs56014374</li>	4
P36956	6720	<ul><li>S->A at 455: No effect on proteolytic processing</li><li>D->A at 456: No effect on proteolytic processing</li><li>S->A at 457: No effect on proteolytic processing</li><li>D->A at 460: No effect on proteolytic processing</li><li>D->A at 466: No effect on proteolytic processing</li><li>G->A at 481: No effect on proteolytic processing</li><li>M->A at 482: No effect on proteolytic processing</li><li>L->A at 483: No effect on proteolytic processing</li><li>DRSR->AS at 484-487: Strong reduction of proteolytic processing in response to low sterol</li><li>D->A at 484: Loss of proteolytic processing in response to low sterol</li><li>R->A at 485: No effect on proteolytic processing</li><li>R->A at 527: Loss of proteolytic processing in response to low sterol</li></ul>	<li>N->S at 306: in dbSNP:rs17855793</li><li>A->T at 309: in dbSNP:rs35188700</li><li>V->M at 417: in dbSNP:rs2229590</li><li>V->M at 580: in dbSNP:rs36215896</li><li>R->H at 746: in dbSNP:rs2228461</li><li>S->L at 834: in dbSNP:rs17855792</li><li>T->A at 1000: in dbSNP:rs1042017</li><li>A->P at 1008: in dbSNP:rs35014224</li>									<li>rs1042017</li><li>rs2228461</li><li>rs17855793</li><li>rs35188700</li><li>rs36215896</li><li>rs35014224</li><li>rs2229590</li><li>rs17855792</li>	3
P37173	7048	<ul><li>K->R at 277: Abolishes kinase activity, TGF-beta signaling and interaction with DAXX</li></ul>	<li>M->V at 36: in dbSNP:rs17025864</li><li>C->R at 61: in a gastric adenocarcinoma sample; somatic mutation</li><li>I->V at 73: in a colorectal cancer sample; somatic mutation</li><li>V->I at 191: in dbSNP:rs56105708</li><li>L->P at 308: in LDS2B; has a negative effect on TGF-beta signaling; dbSNP:rs28934568, MIM: 610380</li><li>T->M at 315: in HNPCC6; dbSNP:rs34833812, MIM: 190182</li><li>H->Y at 328: in a lung neuroendocrine carcinoma sample; somatic mutation, MIM: 190182</li><li>Y->N at 336: in LDS1B, MIM: 610168</li><li>A->P at 355: in LDS1B, MIM: 610168</li><li>G->W at 357: in LDS1B, MIM: 610168</li><li>M->I at 373: in dbSNP:rs35719192, MIM: 610168</li><li>V->M at 387: in a breast tumor; dbSNP:rs35766612, MIM: 610168</li><li>N->S at 435: in a breast tumor; signaling of TGF-beta significantly inhibited, MIM: 610168</li><li>V->A at 439: in dbSNP:rs1050833, MIM: 610168</li><li>V->A at 447: in a breast tumor; signaling of TGF-beta significantly inhibited, MIM: 610168</li><li>S->F at 449: in LDS2B; has a negative effect on TGF-beta signaling, MIM: 610380</li><li>L->M at 452: in a breast tumor; signaling of TGF-beta significantly inhibited, MIM: 610380</li><li>R->C at 460: in AAT3, MIM: 610380</li><li>R->H at 460: in AAT3, MIM: 610380</li><li>N->S at 490: in a gastric adenocarcinoma sample; somatic mutation, MIM: 610380</li><li>E->Q at 526: in esophageal cancer, MIM: 133239</li><li>R->C at 528: in LDS1B, MIM: 610168</li><li>R->H at 528: in LDS1B, MIM: 610168</li><li>R->C at 537: in LDS2B; has a negative effect on TGF-beta signaling: in dbSNP rsrs28934869, MIM: 610380</li>			kinase activity	GO:0016301			<li>O18805</li><li>Q5TJE1</li><li>Q9UER7</li>	<li>Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]</li><li>Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]</li><li>Esophageal cancer [MIM:133239]</li><li>Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]</li><li>Hereditary non-polyposis colorectal cancer type 6 (HNPCC6) [MIM:190182]</li>	<li>rs28934869</li><li>rs1050833</li><li>rs34833812</li><li>rs28934568</li><li>rs17025864</li><li>rs35719192</li><li>rs35766612</li><li>rs56105708</li>	3
P37840	6622	<ul><li>Y->F at 39: No effect on osmotic stress-induced phosphorylation</li><li>Y->F at 125: Abolishes osmotic stress-induced phosphorylation</li><li>Y->F at 133: No effect on osmotic stress-induced phosphorylation</li><li>Y->F at 136: No effect on osmotic stress-induced phosphorylation</li></ul>	<li>A->P at 30: in PARK1, MIM: 168601</li><li>E->K at 46: in PARK1 and DLB; significant increase in binding to negatively charged phospholipid liposomes, MIM: 127750</li><li>A->T at 53: in PARK1; no effect on osmotic stress-induced phosphorylation, MIM: 168601</li>	phosphorylation	GO:0016310	binding	GO:0005488				<li>Lewy body dementia (DLB) [MIM:127750]</li><li>Autosomal dominant Parkinson disease 1 (PARK1) [MIM:168601, 168600]</li>		3
P38398	672	<ul><li>R->G at 71: No effect on interaction with BAP1</li><li>S->A at 1143: Reduces in vitro phosphorylation by ATR</li><li>S->A at 1239: No effect on in vitro phosphorylation by ATR</li><li>S->A at 1280: Reduces in vitro phosphorylation by ATR</li><li>S->A at 1298: No effect on in vitro phosphorylation by ATR</li><li>S->A at 1330: No effect on in vitro phosphorylation by ATR</li><li>S->A at 1387: Loss of IR-induced S-phase checkpoint. Reduces in vitro phosphorylation by ATR</li><li>T->A at 1394: Reduces in vitro phosphorylation by ATR</li><li>S->A at 1423: Inhibition of the IR-induced G2 arrest. Reduces phosphorylation by ATR</li><li>S->A at 1457: Reduces in vitro phosphorylation by ATR</li><li>S->A at 1466: No effect on in vitro phosphorylation by ATR</li><li>S->A at 1524: No change in IR S-phase delay; when associated with A-1387. No effect on in vitro phosphorylation by ATR</li><li>T->A at 1720: No effect on in vitro phosphorylation by ATR: in dbSNP rsrs56195342</li><li>S->A at 1755: No effect on in vitro phosphorylation by ATR</li></ul>	<li>E->K at 10: in BC and BOC, MIM: 113705</li><li>V->A at 11: unclassified, MIM: 113705</li><li>I->V at 21: unclassified, MIM: 113705</li><li>L->S at 22: in BC, MIM: 113705</li><li>E->K at 23: in BC and BOC, MIM: 113705</li><li>L->F at 30: in a breast cancer sample; somatic mutation, MIM: 113705</li><li>C->G at 61: in BC and ovarian cancer; no interaction with BAP1: in dbSNP rsrs28897672, MIM: 113705</li><li>C->G at 64: in BC; no interaction with BAP1, MIM: 113705</li><li>C->Y at 64: unclassified: in dbSNP rsrs55851803, MIM: 113705</li><li>R->K at 71: in BC; unknown pathological significance, MIM: 113705</li><ul><li>R->G at 71: No effect on interaction with BAP1</li></ul><li>S->R at 153: in dbSNP:rs28897674, MIM: 113705</li></ul><li>E->K at 227: in ovarian cancer; could be a polymorphism, MIM: 113705</li></ul><li>H->R at 239, MIM: 113705</li></ul><li>V->M at 271: in BC, MIM: 113705</li></ul><li>G->S at 275: in dbSNP:rs8176153, MIM: 113705</li></ul><li>P->S at 346: in BC; could be a polymorphism, MIM: 113705</li></ul><li>Q->R at 356: common polymorphism; dbSNP:rs1799950, MIM: 113705</li></ul><li>Missing  at 369: in BC, MIM: 113705</li></ul><li>I->M at 379: unclassified: in dbSNP rsrs56128296, MIM: 113705</li></ul><li>F->L at 461: in BC: in dbSNP rsrs56046357, MIM: 113705</li></ul><li>Y->D at 465: in BC, MIM: 113705</li></ul><li>R->I at 507: unclassified, MIM: 113705</li></ul><li>G->V at 552: in BC, MIM: 113705</li></ul><li>N->I at 656, MIM: 113705</li></ul><li>D->N at 693: rare polymorphism; dbSNP:rs4986850, MIM: 113705</li></ul><li>N->D at 723: in dbSNP:rs4986845, MIM: 113705</li></ul><li>D->Y at 749: in BC, MIM: 113705</li></ul><li>L->F at 758: in a breast cancer sample; somatic mutation, MIM: 113705</li></ul><li>V->A at 772: rare polymorphism, MIM: 113705</li></ul><li>G->C at 778: in a breast cancer sample; somatic mutation, MIM: 113705</li></ul><li>K->E at 820: rare polymorphism: in dbSNP rsrs56082113, MIM: 113705</li></ul><li>T->K at 826: in BC: in dbSNP rsrs28897683, MIM: 113705</li></ul><li>H->Y at 835: in BOC; unknown pathological significance, MIM: 113705</li></ul><li>R->W at 841: in BOC; could be a rare polymorphism; dbSNP:rs1800709, MIM: 113705</li></ul><li>Y->H at 856: in a patient with sporadic breast cancer; unknown pathological significance, MIM: 113705</li></ul><li>R->Q at 866: in BC; unknown pathological significance, MIM: 113705</li></ul><li>P->L at 871: common polymorphism; dbSNP:rs799917, MIM: 113705</li></ul><li>H->Y at 888: in BC; unknown pathological significance, MIM: 113705</li></ul><li>L->S at 892: in BC, MIM: 113705</li></ul><li>I->L at 925: in dbSNP:rs4986847, MIM: 113705</li></ul><li>G->D at 960: in BC, MIM: 113705</li></ul><li>F->S at 989: in dbSNP:rs4986848, MIM: 113705</li></ul><li>M->I at 1008: common polymorphism; dbSNP:rs1800704, MIM: 113705</li></ul><li>T->I at 1025: in BC, MIM: 113705</li></ul><li>E->G at 1038: common polymorphism; dbSNP:rs16941, MIM: 113705</li></ul><li>S->N at 1040: rare polymorphism; dbSNP:rs4986852, MIM: 113705</li></ul><li>V->A at 1047: in BC, MIM: 113705</li></ul><li>E->A at 1060, MIM: 113705</li></ul><li>S->I at 1139: in BC; unknown pathological significance, MIM: 113705</li></ul><li>S->G at 1140: in dbSNP:rs2227945, MIM: 113705</li></ul><li>P->S at 1150: in BC, MIM: 113705</li></ul><li>K->R at 1183: common polymorphism; dbSNP:rs16942, MIM: 113705</li></ul><li>S->I at 1187: in BC and BOC, MIM: 113705</li></ul><li>Q->H at 1200: in BC and BOC: in dbSNP rsrs56214134, MIM: 113705</li></ul><li>R->I at 1204: in BC, MIM: 113705</li></ul><li>K->N at 1207: in BC, MIM: 113705</li></ul><li>E->G at 1210: in BC; unknown pathological significance, MIM: 113705</li></ul><li>S->Y at 1217: in BC and BOC, MIM: 113705</li></ul><li>E->D at 1219: unclassified, MIM: 113705</li></ul><li>F->L at 1226: in BOC, MIM: 113705</li></ul><li>N->K at 1236: in dbSNP:rs28897687, MIM: 113705</li></ul><li>R->G at 1243: in BOC, MIM: 113705</li></ul><li>E->K at 1250: in dbSNP:rs28897686, MIM: 113705</li></ul><li>S->P at 1297: in BC; unknown pathological significance, MIM: 113705</li></ul><li>R->G at 1347: in dbSNP rsrs28897689, MIM: 113705</li></ul><li>K->N at 1406: polymorphism; dbSNP:rs1800707, MIM: 113705</li></ul><li>M->T at 1411: in ovarian cancer; unknown pathological significance, MIM: 113705</li></ul><li>S->P at 1431, MIM: 113705</li></ul><li>R->G at 1443: rare polymorphism, MIM: 113705</li></ul><li>R->Q at 1443: in dbSNP:rs4986849, MIM: 113705</li></ul><li>S->I at 1512: in dbSNP:rs1800744, MIM: 113705</li></ul><li>T->I at 1561: unclassified: in dbSNP rsrs56158747, MIM: 113705</li></ul><li>K->E at 1606: unclassified, MIM: 113705</li></ul><li>S->G at 1613: common polymorphism; dbSNP:rs1799966, MIM: 113705</li></ul><li>T->A at 1620: in dbSNP:rs8176219, MIM: 113705</li></ul><li>M->T at 1628: in some patients with sporadic breast cancer; unknown pathological significance; dbSNP:rs4986854, MIM: 113705</li></ul><li>M->V at 1628: unclassified, MIM: 113705</li></ul><li>P->L at 1637: rare polymorphism, MIM: 113705</li></ul><li>A->P at 1641: in ovarian cancer; could be a polymorphism; dbSNP:rs1800726, MIM: 113705</li></ul><li>M->I at 1652: rare polymorphism; dbSNP:rs1799967, MIM: 113705</li></ul><li>F->C at 1662: in dbSNP:rs28897695, MIM: 113705</li></ul><li>V->M at 1665, MIM: 113705</li></ul><li>K->Q at 1690: in some patients with sporadic breast cancer; unknown pathological significance, MIM: 113705</li></ul><li>D->N at 1692: in ovarian cancer; could be a polymorphism, MIM: 113705</li></ul><li>C->R at 1697: in ovarian cancer, MIM: 113705</li></ul><li>R->W at 1699: in ovarian cancer: in dbSNP rsrs55770810, MIM: 113705</li></ul><li>A->E at 1708: in BC; abolishes ACACA binding: in dbSNP rsrs28897696, MIM: 113705</li></ul><li>V->G at 1713, MIM: 113705</li></ul><li>P->R at 1749: in ovarian cancer; could be a polymorphism; abolishes ACACA binding and reduces BRIP1 binding, MIM: 113705</li></ul><li>M->R at 1775: in BC; abolishes ACACA and BRIP1 binding: in dbSNP rsrs41293463, MIM: 113705</li></ul><li>P->S at 1776: in ovarian cancer; could be a polymorphism; dbSNP:rs1800757, MIM: 113705</li></ul><li>L->P at 1786: in BOC; unknown pathological significance, MIM: 113705</li></ul><li>P->S at 1812: in ovarian cancer; could be a polymorphism; dbSNP:rs1800751, MIM: 113705</li></ul>	<li>phosphorylation</li><li>S-phase</li>	<li>GO:0016310</li><li>GO:0051320</li>	binding	GO:0005488			<li>Q9BWV1</li><li>Q00947</li><li>Q9BX63</li><li>P23196</li><li>Q96QZ7</li><li>Q3YK19</li><li>P20848</li><li>Q28559</li><li>Q13085</li><li>Q13535</li><li>Q9H6X2</li><li>Q9TTS3</li><li>Q9FKS4</li><li>Q9P0J6</li><li>Q92560</li><li>Q99496</li>	<li>Breast cancer (BC) [MIM:113705, 114480]</li><li>Ovarian cancer [MIM:113705]</li><li>Breast-ovarian cancer (BOC) [MIM:113705]</li>	<li>rs1799967</li><li>rs1799966</li><li>rs28897672</li><li>rs28897696</li><li>rs1800757</li><li>rs799917</li><li>rs16941</li><li>rs28897695</li><li>rs16942</li><li>rs28897674</li><li>rs56158747</li><li>rs4986845</li><li>rs4986847</li><li>rs2227945</li><li>rs56082113</li><li>rs56195342</li><li>rs1800751</li><li>rs4986848</li><li>rs4986849</li><li>rs55851803</li><li>rs56128296</li><li>rs28897689</li><li>rs1800707</li><li>rs8176153</li><li>rs1800704</li><li>rs1800726</li><li>rs56046357</li><li>rs28897683</li><li>rs8176219</li><li>rs4986850</li><li>rs28897686</li><li>rs1800709</li><li>rs28897687</li><li>rs55770810</li><li>rs41293463</li><li>rs4986854</li><li>rs1800744</li><li>rs4986852</li><li>rs1799950</li><li>rs56214134</li>	4
P38484	3460	<ul><li>T->A,Q at 168: Does not affect function</li></ul>	<li>T->R at 58: in dbSNP:rs4986958</li><li>Q->R at 64: in dbSNP:rs9808753</li><li>E->K at 147: in dbSNP:rs17878639</li><li>T->N at 168: in MSMD; does not affect receptor trafficking to the cell surface; loss of function due to gain of N-glycosylation, MIM: 209950</li><ul><li>T->A,Q at 168: Does not affect function</li></ul><li>K->E at 182: in dbSNP:rs17878711, MIM: 209950</li></ul><li>Missing  at 222-230: in MSMD; affects receptor trafficking to the cell surface, MIM: 209950</li></ul>					cell surface	GO:0009928,GO:0009986		Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]	<li>rs9808753</li><li>rs4986958</li><li>rs17878711</li><li>rs17878639</li>	4
P38567	6677	<ul><li>D->N at 146: Reduces activity by 80%</li><li>E->Q at 148: Loss of activity</li><li>R->G at 211: Reduces activity by over 90%</li><li>E->Q at 284: Loss of activity</li><li>R->T at 287: Loss of activity</li></ul>	<li>V->A at 47: in dbSNP:rs34633019</li>									rs34633019	3
P38570	3682	<ul><li>D->A at 208: Loss of E-cadherin binding</li><li>F->A at 316: Loss of E-cadherin binding</li></ul>	<li>D->E at 360</li><li>I->V at 477: in dbSNP:rs220479</li><li>R->Q at 482: in dbSNP:rs2272606</li><li>Q->H at 892: in dbSNP:rs3744679</li><li>R->W at 950: in dbSNP:rs1716</li><li>V->A at 1019: in dbSNP:rs2976230</li><li>C->S at 1041</li>			cadherin binding	GO:0045296					<li>rs1716</li><li>rs3744679</li><li>rs220479</li><li>rs2272606</li><li>rs2976230</li>	3
P38936	1026	<ul><li>T->A at 145: Reduces phosphorylation by Akt; no change in interaction with PCNA, CDK2 or CDK4; no change in subcellular location</li><li>T->D at 145: No interaction with PCNA; 59% inhibition of CDK2 binding; modest inhibition of CDK4 binding; no change in subcellular location</li><li>S->A at 146: No change in interaction with PCNA</li><li>S->D at 146: Reduces interaction with PCNA</li></ul>	<li>P->L at 4: in dbSNP:rs4986866</li><li>S->R at 31: in dbSNP:rs1801270</li><li>F->L at 63: in dbSNP:rs4986867</li><li>D->G at 149: in dbSNP:rs1801724</li>	phosphorylation	GO:0016310	binding	GO:0005488			<li>O16852</li><li>Q9HJQ0</li><li>Q6B6N4</li><li>Q8PX25</li><li>P61074</li><li>Q8INB9</li><li>O29912</li><li>Q9DDF1</li><li>Q43124</li><li>Q57697</li><li>P18248</li><li>O02115</li><li>P53358</li><li>O01377</li><li>Q6LWJ8</li><li>Q9MAY3</li><li>Q00268</li><li>Q8TUF7</li><li>Q00265</li><li>Q9DEA3</li><li>P17070</li><li>Q5E9Y0</li><li>Q9M7Q7</li><li>O58398</li><li>O10308</li><li>P31008</li><li>P17917</li><li>P17918</li><li>P11038</li><li>P61258</li><li>P15873</li><li>Q7T6Y0</li><li>Q03392</li><li>P22177</li><li>P04961</li><li>Q979S2</li><li>P57761</li><li>O73947</li><li>Q9W644</li><li>Q9UWR9</li><li>O55076</li><li>Q9PTP1</li><li>Q74MV1</li><li>Q8TWK3</li><li>O82134</li><li>Q9HN45</li><li>P31750</li><li>Q6KZF1</li><li>O82797</li><li>P12004</li><li>P24314</li><li>Q9UYX8</li><li>Q9P9H8</li><li>P24941</li><li>Q43266</li><li>O27367</li><li>P48963</li><li>P43450</li><li>P11802</li><li>P79432</li>		<li>rs4986866</li><li>rs4986867</li><li>rs1801270</li><li>rs1801724</li>	3
P39748	2237	<ul><li>R->A at 29: No significant effect on exonuclease activity or Flap endonuclease activity</li><li>D->A at 34: Loss of Flap endonuclease activity but substrate binding activity is retained</li><li>R->A at 47: Significantly reduced exonuclease activity and reduced substrate binding. The positions of the cleavage sites are also shifted</li><li>R->A at 70: Loss of exonuclease activity and reduced endonuclease activity. Reduced substrate binding</li><li>R->A at 73: No significant effect on exonuclease activity or Flap endonuclease activity</li><li>K->A at 80: No significant effect on exonuclease activity or Flap endonuclease activity</li><li>D->A at 86: Loss of Flap endonuclease activity but substrate binding activity is retained</li><li>R->A at 103: No effect on Flap endonuclease activity or substrate binding</li><li>E->A at 158: Loss of Flap endonuclease activity and substrate binding</li><li>D->A at 179: No effect on Flap endonuclease activity or substrate binding</li><li>D->A at 181: Loss of Flap endonuclease activity but substrate binding activity is retained</li><li>G->A at 231: Loss of Flap endonuclease activity and substrate binding</li><li>D->A at 233: Loss of Flap endonuclease activity and substrate binding</li></ul>				binding	GO:0005488			<li>P04323</li><li>P20825</li><li>P10399</li><li>P10978</li><li>P00641</li><li>P20321</li><li>Q00962</li><li>P38446</li><li>P15629</li><li>P00638</li><li>P13717</li><li>P05400</li><li>P03554</li><li>Q03269</li><li>P03556</li><li>P03555</li><li>Q03277</li><li>P10394</li><li>Q03278</li><li>Q03275</li><li>Q05118</li><li>Q03276</li><li>P11283</li><li>P16423</li><li>Q03273</li><li>Q03274</li><li>Q03271</li><li>P09523</li><li>Q03272</li><li>P11369</li><li>P03697</li><li>Q03270</li><li>Q8I7P9</li><li>P11367</li><li>Q02964</li><li>P20314</li><li>P10400</li><li>Q03279</li><li>P10401</li>			1
P40189	3572	<ul><li>S->A at 782: Increases cell surface expression</li></ul>	<li>L->V at 8: in dbSNP:rs1063560</li><li>G->R at 148: in dbSNP:rs2228044</li><li>L->V at 397: in dbSNP:rs2228043</li><li>T->I at 415: in a colorectal cancer sample; somatic mutation</li><li>I->T at 454: in dbSNP:rs2228046</li><li>V->I at 499: in dbSNP:rs34417936</li>					cell surface	GO:0009928,GO:0009986			<li>rs1063560</li><li>rs2228046</li><li>rs2228043</li><li>rs2228044</li><li>rs34417936</li>	3
P40198	1084	<ul><li>Y->F at 230: Loss of phosphorylation and 30% reduction in bacterial uptake. More than 60% reduction in bacterial uptake and loss of RAC1 stimulation; when associated with F-241</li><li>Y->F at 241: Loss of phosphorylation and 30% reduction in bacterial uptake. More than 60% reduction in bacterial uptake and loss of RAC1 stimulation; when associated with F-230</li></ul>	<li>S->P at 7: in dbSNP:rs1041999</li>	phosphorylation	GO:0016310					<li>Q9SSX0</li><li>O04369</li><li>Q38912</li><li>P13362</li><li>P62999</li><li>P80236</li><li>P62998</li><li>P63000</li>		rs1041999	3
P40337	7428	<ul><li>Y->N at 98: No interaction with HIF1A. No HIF1A degradation</li></ul>	<li>P->L at 25: in pheochromocytoma; dbSNP:rs35460768, MIM: 171300</li><li>S->P at 38: in VHLD; type II, MIM: 193300</li><li>E->K at 52: in VHLD; type I, MIM: 193300</li><li>L->P at 63: in pheochromocytoma, MIM: 171300</li><li>R->P at 64: in pheochromocytoma, MIM: 171300</li><li>S->A at 65: in pheochromocytoma, MIM: 171300</li><li>S->L at 65: in VHLD; type I, MIM: 193300</li><li>S->W at 65: in VHLD; type I, MIM: 193300</li><li>Missing  at 66-73: in VHLD; type I, MIM: 193300</li><li>S->W at 68: in pheochromocytoma and VHLD; type II, MIM: 193300</li><li>E->K at 70: in VHLD; type I, MIM: 193300</li><li>V->G at 74: in VHLD; type I-II; dbSNP:rs5030803, MIM: 193300</li><li>Missing  at 75: in VHLD, MIM: 193300</li><li>F->I at 76: in VHLD; type I, MIM: 193300</li><li>F->L at 76: in VHLD; type I, MIM: 193300</li><li>F->S at 76: in VHLD; type I, MIM: 193300</li><li>Missing  at 76: in VHLD; type I; common mutation, MIM: 193300</li><li>N->H at 78: in VHLD; type I, MIM: 193300</li><li>N->S at 78: in VHLD; type I; common mutation; dbSNP:rs5030804, MIM: 193300</li><li>N->T at 78: in VHLD; type I, MIM: 193300</li><li>R->P at 79: in VHLD, MIM: 193300</li><li>S->I at 80: in VHLD; type I: in dbSNP rsrs5030805, MIM: 193300</li><li>S->N at 80: in pheochromocytoma and VHLD; type I; dbSNP:rs5030805, MIM: 193300</li><li>S->R at 80: in VHLD; type I, MIM: 193300</li><li>P->S at 81: in VHLD; type I; dbSNP:rs5030806, MIM: 193300</li><li>Missing  at 82-84: in VHLD, MIM: 193300</li><li>R->P at 82: in VHLD; type I, MIM: 193300</li><li>V->L at 84: in VHLD; type II and type 2C; dbSNP:rs5030827, MIM: 193300</li><li>P->A at 86: in VHLD; type I, MIM: 193300</li><li>P->H at 86: in VHLD, MIM: 193300</li><li>P->L at 86: in VHLD; type I, MIM: 193300</li><li>P->R at 86: in VHLD; type I, MIM: 193300</li><li>P->S at 86: in VHLD, MIM: 193300</li><li>W->R at 88: in VHLD; type I, MIM: 193300</li><li>W->S at 88: in VHLD; type I, MIM: 193300</li><li>L->H at 89: in lung cancer, MIM: 193300</li><li>L->P at 89: in VHLD; type I; dbSNP:rs5030807, MIM: 193300</li><li>F->L at 91: in cerebellar hemangioblastoma, MIM: 193300</li><li>Missing  at 92-97: in VHLD; type I, MIM: 193300</li><li>G->C at 93: in pheochromocytoma and VHLD; type II; dbSNP:rs5030808, MIM: 193300</li><li>G->D at 93: in VHLD, MIM: 193300</li><li>G->S at 93: in pheochromocytoma and VHLD; type II; dbSNP:rs5030808, MIM: 193300</li><li>Q->P at 96: in VHLD; type I, MIM: 193300</li><li>Y->H at 98: in pheochromocytoma and VHLD; type II; dbSNP:rs5030809, MIM: 193300</li><ul><li>Y->N at 98: No interaction with HIF1A. No HIF1A degradation</li></ul><li>L->G at 101: in VHLD; type I; requires 2 nucleotide substitutions, MIM: 193300</li></ul><li>L->R at 101: in VHLD; type I, MIM: 193300</li></ul><li>G->A at 104: in cerebellar hemangioblastoma, MIM: 193300</li></ul><li>T->P at 105: in VHLD; type I, MIM: 193300</li></ul><li>G->D at 106: in lung cancer, MIM: 193300</li></ul><li>R->G at 107: in pheochromocytoma, MIM: 171300</li></ul><li>R->P at 107: in VHLD; type I, MIM: 193300</li></ul><li>H->Y at 110: in dbSNP:rs17855706, MIM: 193300</li></ul><li>S->C at 111: in VHLD; type II, MIM: 193300</li></ul><li>S->N at 111: in VHLD; type I, MIM: 193300</li></ul><li>S->R at 111: in VHLD; type I, MIM: 193300</li></ul><li>Y->H at 112: in VHLD; type IIA, MIM: 193300</li></ul><li>Y->N at 112: in VHLD, MIM: 193300</li></ul><li>G->C at 114: in VHLD; type II, MIM: 193300</li></ul><li>G->R at 114: in VHLD; type I-II, MIM: 193300</li></ul><li>G->S at 114: in VHLD; type II, MIM: 193300</li></ul><li>H->Q at 115: in VHLD; type II, MIM: 193300</li></ul><li>H->R at 115: in VHLD; type II: in dbSNP rsrs5030812, MIM: 193300</li></ul><li>H->Y at 115: in VHLD; type I; dbSNP:rs5030811, MIM: 193300</li></ul><li>L->V at 116: in VHLD, MIM: 193300</li></ul><li>W->C at 117: in VHLD; type I, MIM: 193300</li></ul><li>L->P at 118: in VHLD; type I; dbSNP:rs5030830, MIM: 193300</li></ul><li>L->R at 118: in VHLD, MIM: 193300</li></ul><li>F->L at 119: in pheochromocytoma and VHLD; type II, MIM: 193300</li></ul><li>F->S at 119: in VHLD; type II, MIM: 193300</li></ul><li>D->G at 121: in VHLD; type I; dbSNP:rs5030832, MIM: 193300</li></ul><li>A->I at 122: in pheochromocytoma; requires 2 nucleotide substitutions, MIM: 171300</li></ul><li>D->Y at 126: in ECYT2, MIM: 263400</li></ul><li>L->F at 128: in VHLD; type II, MIM: 193300</li></ul><li>L->LE at 129: in VHLD, MIM: 193300</li></ul><li>V->L at 130: in ECYT2 and VHLD; type I, MIM: 193300</li></ul><li>N->K at 131: in VHLD; type I, MIM: 193300</li></ul><li>N->T at 131: in VHLD; type I, MIM: 193300</li></ul><li>L->F at 135: in hemangioblastoma, MIM: 193300</li></ul><li>F->C at 136: in pheochromocytoma and VHLD; type II: in dbSNP rsrs5030833, MIM: 193300</li></ul><li>F->S at 136: in VHLD, MIM: 193300</li></ul><li>F->Y at 136: in VHLD, MIM: 193300</li></ul><li>D->E at 143: in VHLD; type II, MIM: 193300</li></ul><li>Q->H at 145: in VHLD, MIM: 193300</li></ul><li>I->T at 147: in pheochromocytoma, MIM: 171300</li></ul><li>Missing  at 148: in VHLD; type I, MIM: 171300</li></ul><li>A->T at 149: in VHLD; type II, MIM: 193300</li></ul><li>P->L at 154: in VHLD; type II, MIM: 193300</li></ul><li>V->G at 155: in VHLD; type II, MIM: 193300</li></ul><li>V->M at 155: in VHLD; with RCC, MIM: 193300</li></ul><li>Y->C at 156: in pheochromocytoma and VHLD; type I, MIM: 193300</li></ul><li>Y->D at 156: in VHLD; type I, MIM: 193300</li></ul><li>Y->N at 156: in pheochromocytoma, MIM: 171300</li></ul><li>T->I at 157: in VHLD; type II, MIM: 193300</li></ul><li>T->TF at 157: in VHLD; type I, MIM: 193300</li></ul><li>L->P at 158: in VHLD; type I-II; abolishes release from chaperonin complex and the interaction with Elongin BC complex, MIM: 193300</li></ul><li>L->V at 158: in VHLD; type I, MIM: 193300</li></ul><li>K->E at 159: in VHLD; type II, MIM: 193300</li></ul><li>R->G at 161: in VHLD; type II: in dbSNP rsrs5030818, MIM: 193300</li></ul><li>R->P at 161: in pheochromocytoma and VHLD; type I, MIM: 193300</li></ul><li>R->Q at 161: in pheochromocytoma and VHLD; type II, MIM: 193300</li></ul><li>C->F at 162: in VHLD; type I; No effect on interaction with HIF1A nor on HIF1A degradation, MIM: 193300</li></ul><li>C->R at 162: in VHLD; type I, MIM: 193300</li></ul><li>C->W at 162: in VHLD; type I-II; dbSNP:rs5030622, MIM: 193300</li></ul><li>C->Y at 162: in VHLD; type I, MIM: 193300</li></ul><li>L->P at 163: in RCC1; with paraneoplastic erythrocytosis; inhibits binding to HIF1AN: in dbSNP rsrs28940297, MIM: 144700</li></ul><li>Q->H at 164: in VHLD, MIM: 193300</li></ul><li>Q->R at 164: in VHLD; type II, MIM: 193300</li></ul><li>V->D at 166: in VHLD; with RCC, MIM: 193300</li></ul><li>V->F at 166: in VHLD; type IIA, MIM: 193300</li></ul><li>R->G at 167: in VHLD; type I-II, MIM: 193300</li></ul><li>R->Q at 167: in pheochromocytoma and VHLD; type II; common mutation; dbSNP:rs5030821, MIM: 193300</li></ul><li>R->W at 167: in pheochromocytoma and VHLD; type II; common mutation; dbSNP:rs5030820, MIM: 193300</li></ul><li>V->D at 170: in VHLD; type II, MIM: 193300</li></ul><li>V->F at 170: in VHLD; type II, MIM: 193300</li></ul><li>V->G at 170: in VHLD; type I, MIM: 193300</li></ul><li>Y->D at 175: in VHLD; type I, MIM: 193300</li></ul><li>R->W at 176: in VHLD, MIM: 193300</li></ul><li>R->RLRVKPE at 177: in VHLD; type I, MIM: 193300</li></ul><li>L->P at 178: in VHLD; type I-II; common mutation, MIM: 193300</li></ul><li>L->Q at 178: in VHLD; type II; dbSNP:rs5030822, MIM: 193300</li></ul><li>I->V at 180: in VHLD; type I, MIM: 193300</li></ul><li>L->P at 184: in VHLD; type I, MIM: 193300</li></ul><li>L->R at 184: in VHLD; type I, MIM: 193300</li></ul><li>E->K at 186: in VHLD; type I, MIM: 193300</li></ul><li>Missing  at 186: in VHLD, MIM: 193300</li></ul><li>L->P at 188: in VHLD; type I-II, MIM: 193300</li></ul><li>L->Q at 188: in VHLD; type I, MIM: 193300</li></ul><li>L->V at 188: in ECYT2, pheochromocytoma and VHLD; type IIA; dbSNP:rs5030824, MIM: 193300</li></ul><li>H->D at 191: in ECYT2; dbSNP:rs28940301, MIM: 263400</li></ul><li>P->S at 192: in ECYT2; dbSNP:rs28940300, MIM: 263400</li></ul><li>L->Q at 198: in pheochromocytoma, MIM: 171300</li></ul><li>L->R at 198: in ECY2 and VHLD; type II, MIM: 193300</li></ul><li>R->W at 200: in ECYT2 and VHLD; type I; dbSNP:rs28940298, MIM: 193300</li></ul>			binding	GO:0005488			<li>Q98SW2</li><li>Q0PGG7</li><li>Q309Z6</li><li>Q9YIB9</li><li>Q9NWT6</li><li>P18754</li><li>Q16665</li><li>P23800</li><li>Q9XTA5</li><li>P52499</li>	<li>Renal cell carcinoma type 1 (RCC1) [MIM:144700]</li><li>Erythrocytosis familial type 2 (ECYT2) [MIM:263400]</li><li>Von Hippel-Lindau disease (VHLD) [MIM:193300]</li><li>Pheochromocytoma [MIM:171300]</li>	<li>rs5030822</li><li>rs5030821</li><li>rs35460768</li><li>rs5030830</li><li>rs5030820</li><li>rs5030833</li><li>rs17855706</li><li>rs5030832</li><li>rs28940298</li><li>rs28940297</li><li>rs5030811</li><li>rs5030622</li><li>rs28940300</li><li>rs28940301</li><li>rs5030809</li><li>rs5030818</li><li>rs5030827</li><li>rs5030803</li><li>rs5030804</li><li>rs5030805</li><li>rs5030824</li><li>rs5030807</li><li>rs5030812</li><li>rs5030808</li>	4
P40855	5824	<ul><li>Missing at 296-299: Abolishes binding to PEX10, PEX11B, PEX12 and PEX13. Does not affect binding to PEX3 and PEX16</li><li>C->A at 296: Slightly inhibits PEX19 function on peroxisome biogenesis</li><li>C->S at 296: Abolishes farnesylation. Abolishes PEX19 function on peroxisome biogenesis. Does not affect binding to ABCD1, ABCD2 and ABCD3</li></ul>				binding	GO:0005488	peroxisome	GO:0005777	<li>P80667</li><li>Q04370</li><li>P56589</li><li>Q3SZD1</li><li>Q00940</li><li>Q01497</li><li>O94227</li><li>Q9UBJ2</li><li>Q92262</li><li>Q9SYU4</li><li>Q92265</li><li>Q5RFI0</li><li>Q05568</li><li>Q60HE1</li><li>Q874C0</li><li>Q60415</li><li>P28795</li><li>Q92266</li><li>Q92968</li><li>P78980</li><li>Q00317</li><li>O96011</li><li>O00623</li><li>Q759H4</li><li>Q01961</li><li>P40855</li><li>Q9Y5Y5</li><li>P28288</li><li>Q07418</li><li>Q5R7U2</li><li>O60683</li><li>P33897</li><li>Q8HXW8</li><li>Q6BK00</li><li>Q9ET67</li><li>Q9JJK3</li>			1
P41181	359	<ul><li>S->A at 148: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis</li><li>S->D at 148: Retained in the endoplasmic reticulum</li><li>S->A at 229: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis</li><li>S->D at 229: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis</li><li>S->A at 231: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis</li><li>S->D at 231: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis</li><li>T->A at 244: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis</li><li>T->E at 244: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis</li><li>S->A at 256: Retained in vesicles</li><li>S->D at 256: Expressed in the apical membrane</li></ul>	<li>L->V at 22: in ANDI, MIM: 125800</li><li>L->P at 28: in ANDI, MIM: 125800</li><li>A->V at 47: in ANDI, MIM: 125800</li><li>Q->P at 57: in ANDI; dbSNP:rs28931580, MIM: 125800</li><li>G->R at 64: in ANDI, MIM: 125800</li><li>N->S at 68: in ANDI, MIM: 125800</li><li>V->M at 71: in ANDI, MIM: 125800</li><li>G->V at 100: in ANDI: in dbSNP rsrs28929477, MIM: 125800</li><li>L->F at 121: in dbSNP:rs11169226, MIM: 125800</li><li>T->M at 125: in ANDI, MIM: 125800</li><li>T->M at 126: in ANDI, MIM: 125800</li><li>A->T at 147: in ANDI, MIM: 125800</li><li>V->M at 168: in ANDI, MIM: 125800</li><li>G->R at 175: in ANDI, MIM: 125800</li><li>C->W at 181: in ANDI, MIM: 125800</li><li>P->A at 185: in ANDI, MIM: 125800</li><li>R->C at 187: in ANDI; mutant protein does not fold properly and is not functional, MIM: 125800</li><li>A->T at 190: in ANDI; mutant protein does not fold properly and is not functional, MIM: 125800</li><li>V->I at 194, MIM: 125800</li><li>W->C at 202: in ANDI, MIM: 125800</li><li>S->P at 216: in ANDI, MIM: 125800</li><li>E->K at 258: in ANDI; retained in the Golgi compartment, MIM: 125800</li><li>P->L at 262: in ANDI; mutant protein folds properly and is functional but is retained in intracellular vesicles and does not localize to the ER; upon coexpression with wild-type AQP2 mutant protein interacts with wild-type AQP2 and the resulting heterotetramer properly localizes to the apical membrane, MIM: 125800</li>	endocytosis	GO:0006897			<li>intracellular</li><li>membrane</li><li>ER</li>	<li>GO:0005622</li><li>GO:0016020</li><li>GO:0005783</li>	<li>P79200</li><li>P79213</li><li>P41181</li><li>P79229</li><li>P79803</li><li>P79144</li><li>P79168</li><li>O77740</li><li>P79099</li><li>P79164</li><li>P79165</li><li>O77697</li><li>O62735</li><li>O77722</li><li>O77714</li>	Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	<li>rs28929477</li><li>rs11169226</li><li>rs28931580</li>	3
P41182	604	<ul><li>S->A at 333: Decrease in phosphorylation by MAPK1</li><li>S->A at 343: Decrease in phosphorylation by MAPK1</li></ul>	<li>N->S at 252: in dbSNP:rs34463990</li><li>A->T at 493: in dbSNP:rs2229362</li><li>H->Y at 676: in dbSNP:rs1056936</li>	phosphorylation	GO:0016310					<li>P46196</li><li>P28482</li><li>Q5Z9J0</li>		<li>rs34463990</li><li>rs2229362</li><li>rs1056936</li>	3
P41212	2120	<ul><li>S->A at 22: No effect</li><li>S->A at 213: No effect</li><li>S->A at 238: No effect</li><li>S->A at 257: No phosphorylation by MAPK14</li></ul>	<li>Y->YG at 344: in one individual with AML; somatic mutation; unable to repress transcription</li>	<li>phosphorylation</li><li>transcription</li>	<li>GO:0016310</li><li>GO:0006350</li>					<li>O02812</li><li>Q95NE7</li><li>Q16539</li>			3
P41229	8242	<ul><li>H->A at 514: Abolishes enzymatic activity</li></ul>	<li>D->G at 87: in XLMR; no effect on subcellular location and enzymatic activity, MIM: 300534</li><li>A->P at 388: in XLMR; impairs enzymatic activity and binding to H3-K9Me3, MIM: 300534</li><li>D->Y at 402: in XLMR; impairs enzymatic activity, MIM: 300534</li><li>S->R at 451: in XLMR, MIM: 300534</li><li>F->L at 642: in XLMR; impairs enzymatic activity, MIM: 300534</li><li>E->K at 698: in XLMR; abolishes function in vivo, but no effect on enzymatic activity or binding to H3-K9Me3, MIM: 300534</li><li>L->F at 731: in XLMR; impairs enzymatic activity, MIM: 300534</li><li>R->W at 750: in XLMR, MIM: 300534</li><li>Y->C at 751: in XLMR; impairs enzymatic activity, MIM: 300534</li>			binding	GO:0005488			Q92796	X-linked mental retardation (XLMR) [MIM:300534]		3
P41240	1445	<ul><li>Y->F at 184: Abolishes phosphorylation</li><li>Y->F at 304: Decreases activity by two-thirds and alters conformation</li></ul>	<li>P->L at 45</li><li>G->D at 287: in dbSNP:rs34866753</li><li>R->Q at 398: in dbSNP rsrs34616395</li><li>H->R at 442: in dbSNP rsrs35556162</li>	phosphorylation	GO:0016310							<li>rs35556162</li><li>rs34616395</li><li>rs34866753</li>	3
P41743	5584	<ul><li>K->A at 20: No effect on interaction with SQSTM1</li><li>D->A at 63: Loss of interaction with PARD6A and with SQSTM1</li><li>E->A at 76: Slight decrease of interaction with PARD6A. Loss of interaction with PARD6A; when associated with A-82</li><li>R->A at 82: Slight decrease of interaction with PARD6A. Loss of interaction with PARD6A; when associated with A-76</li><li>Y->F at 256: No effect on the Src-mediated phosphorylation state. No effect on Src-induced enzyme activity. Little effect on TRAF6-mediated activation of NF-kappa-B. Decreased binding to KPNB1/importin-beta</li><li>Y->F at 271: No effect on the Src-mediated phosphorylation state. No effect on Src-induced enzyme activity. No effect on TRAF6-mediated activation of NF-kappa-B</li><li>Y->F at 325: No effect on the Src-mediated phosphorylation state. Significant reduction of Src-induced enzyme activity. Greatly reduced TRAF6-mediated activation of NF-kappa-B. Reduces NGF-dependent cell survival</li></ul>	<li>P->L at 109: in a metastatic melanoma sample; somatic mutation</li><li>R->C at 121</li>	phosphorylation	GO:0016310	binding	GO:0005488			<li>Q5RBA5</li><li>P05480</li><li>Q14974</li><li>Q9NPB6</li><li>P21617</li><li>Q13501</li><li>Q90W38</li><li>Q9WUD9</li><li>Q9Y4K3</li><li>P34129</li><li>Q6YBR5</li>			3
P42126	1632	<ul><li>E->A at 178: Loss of activity</li></ul>											1
P42224	6772	<ul><li>K->R at 110: Sumoylated</li><li>Y->F at 701: No effect on basal sumoylation. Enhances sumoylation in the presence of MAPK stimulation</li><li>K->R at 703: Abolishes sumoylation by SUMO1. Increased IFN-gamma-mediated transactivation</li><li>S->A at 727: Decreased transcriptional activation. No effect on basal sumoylation. No enhancement of sumoylation on MAPK stimulation. No PKCdelta-induced apoptosis</li><li>S->D at 727: No change in enhancement of MAPK-induced sumoylation. Basal interaction with PIAS1. Interaction with PIAS1 increased on MAPK stimulation</li><li>S->E at 727: No change in enhancement of MAPK-induced sumoylation</li></ul>	<li>I->T at 30: in dbSNP:rs34255470</li><li>P->A at 491: in a breast cancer sample; somatic mutation</li><li>L->P at 600: in STAT1 deficiency; complete, MIM: 600555</li><li>L->S at 706: in MSMD; loss of GAF and ISGF3 activation; impairs the nuclear accumulation of GAF but not of ISGF3 in heterozygous cells stimulated by IFNs, MIM: 209950</li>	<li>sumoylation</li><li>apoptosis</li>	<li>GO:0016925</li><li>GO:0006915</li>					<li>O35735</li><li>Q2EF74</li><li>P42224</li><li>Q25BC0</li><li>P07353</li><li>Q9TTB0</li><li>O77763</li><li>Q2PE75</li><li>P27638</li><li>Q866Y6</li><li>P79154</li><li>Q5E9D1</li><li>Q9TV67</li><li>Q865Y4</li><li>Q4ZH68</li><li>O42781</li><li>P17803</li><li>P30123</li><li>P42160</li><li>P42161</li><li>P42162</li><li>P51526</li><li>P54130</li><li>Q9QXX2</li><li>Q62574</li><li>Q7TSP4</li><li>Q9YGB9</li><li>P49708</li><li>P28172</li><li>O73915</li><li>Q08605</li><li>O75925</li><li>P28333</li><li>P63309</li><li>P36364</li><li>Q5R6J4</li><li>Q00859</li><li>O57608</li><li>P55857</li><li>P46402</li><li>O57603</li><li>P28341</li><li>Q764M5</li><li>Q9MZD5</li><li>P01579</li><li>Q865W6</li><li>P63310</li><li>Q8MKF5</li><li>P63311</li><li>Q91875</li><li>O35497</li><li>O57571</li><li>P63165</li><li>Q647G2</li><li>Q865X1</li><li>P31371</li><li>P17773</li><li>Q1WM28</li><li>P01581</li><li>P10829</li><li>Q8SPW9</li><li>P01580</li><li>Q5CCK0</li><li>Q5I6S9</li>	<li>STAT1 deficiency [MIM:600555]</li><li>Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]</li>	rs34255470	3
P42226	6778	<ul><li>L->A at 802: Abolishes the interaction with NCOA1; when associated with A-805</li><li>L->A at 805: Abolishes the interaction with NCOA1; when associated with A-802</li></ul>	<li>M->R at 181: in dbSNP:rs3024952</li>							Q15788		rs3024952	3
P42330	8644	<ul><li>K->E at 75: No effect on 17beta-HSD activity</li></ul>	<li>Q->H at 5: in dbSNP:rs12529</li><li>R->Q at 66: in dbSNP:rs35961894</li><li>R->C at 170: in dbSNP:rs35575889</li><li>M->I at 175: no effect on 17beta-HSD activity; dbSNP:rs1131132</li><li>P->S at 180: in dbSNP:rs34186955</li>									<li>rs12529</li><li>rs1131132</li><li>rs35575889</li><li>rs34186955</li><li>rs35961894</li>	3
P42566	2060	<ul><li>V->E at 154: Loss of interaction with STON2 NPF motifs</li><li>W->A at 169: Loss of interaction with STON2 NPF motifs</li></ul>	<li>I->M at 822: in dbSNP:rs17567</li>							<li>P41321</li><li>P41334</li><li>Q8MP00</li><li>Q8WXE9</li><li>P41967</li>		rs17567	3
P42575	835	<ul><li>C->S at 320: Loss of function</li><li>A->T at 369: Loss of function</li></ul>	<li>V->L at 172: in dbSNP:rs4647297</li><li>P->A at 178: in dbSNP:rs4647298</li><li>R->G at 441: in dbSNP:rs4647338</li>									<li>rs4647298</li><li>rs4647297</li><li>rs4647338</li>	3
P43119	5739	<ul><li>C->S at 308: Reduced palmitoylation, coupling to G protein unaffected. Abolished palmitoylation and coupling to G protein; when associated with S-311</li><li>C->S at 309: No effect on palmitoylation level</li><li>C->S at 311: Reduced palmitoylation, coupling to G protein unaffected. Abolished palmitoylation and coupling to G protein; when associated with S-308</li><li>C->S at 383: Abolishes isoprenylation</li></ul>	<li>V->M at 25: in dbSNP:rs2229127</li>									rs2229127	3
P43155	1384	<ul><li>Y->A at 452: Increases the KM for carnitine 100-fold</li><li>Y->F at 452: Increases the KM for carnitine 320-fold and reduces enzyme activity 10000-fold</li><li>T->A at 465: Increases the KM for carnitine almost 70-fold and reduces enzyme activity 450-fold</li><li>R->Q at 518: Increases the KM for carnitine 230-fold and reduces enzyme activity almost 100-fold</li><li>F->A at 566: Increases the KM for carnitine 18-fold and reduces enzyme activity 100-fold</li><li>F->Y at 566: No effect</li></ul>	<li>L->M at 372: in dbSNP:rs3118635</li><li>A->P at 624: in dbSNP:rs17459086</li>									<li>rs3118635</li><li>rs17459086</li>	3
P43246	4436	<ul><li>G->A at 674: Mainly causes defects in mismatch binding or release efficiency</li><li>K->R at 675: No effect on mismatch binding, complete loss of DNA repair function when associated with MSH6 mutant R-1140</li></ul>	<li>A->T at 2: in HNPCC1, MIM: 120435</li><li>T->M at 8: could be associated with increased colorectal cancer susceptibility; dbSNP:rs17217716, MIM: 120435</li><li>S->I at 13: in colorectal cancer, MIM: 120435</li><li>V->F at 17: in gastric cancer; uncertain pathogenicity; cryptic acceptor splice site suppressed on ex vivo splicing assay, MIM: 120435</li><li>T->P at 33: in HNPCC1; shows slightly reduced mismatch binding or release efficiency, MIM: 120435</li><li>G->S at 40: in CRC, MIM: 120435</li><li>Y->C at 43: in dbSNP:rs17217723, MIM: 120435</li><li>T->M at 44: in HNPCC1, MIM: 120435</li><li>A->V at 45: in HNPCC1, MIM: 120435</li><li>H->Q at 46: in HNPCC1; dbSNP:rs33946261, MIM: 120435</li><li>Missing  at 92: in HNPCC1; uncertain pathogenicity; has no effect on ex vivo splicing assay, MIM: 120435</li><li>L->F at 93: in HNPCC1, MIM: 120435</li><li>R->H at 96, MIM: 120435</li><li>Y->C at 98: in HNPCC1; uncertain pathogenicity, MIM: 120435</li><li>V->I at 102: in HNPCC1, MIM: 120435</li><li>R->K at 106: in dbSNP:rs41295286, MIM: 120435</li><li>K->T at 110: in HNPCC1; somatic mutation, MIM: 120435</li><li>N->S at 127: in HNPCC1; shows no defects; dbSNP:rs17217772, MIM: 120435</li><li>N->S at 139: in HNPCC1, MIM: 120435</li><li>I->M at 145: in HNPCC1, MIM: 120435</li><li>V->D at 161: in HNPCC1; affects protein stability; associated with an absence of the protein in tumors, MIM: 120435</li><li>G->A at 162: in HNPCC1, MIM: 120435</li><li>G->R at 162: in HNPCC1; shows a decreased expression level of the MutS alpha complex and is associated with an abnormal subcellular localization pattern; affects protein stability; associated with an absence of the protein in tumors, MIM: 120435</li><li>V->D at 163: in HNPCC1, MIM: 120435</li><li>V->G at 163: in HNPCC1, MIM: 120435</li><li>G->R at 164: in HNPCC1; affects protein stability; associated with an absence of the protein in tumors, MIM: 120435</li><li>D->H at 167: in HNPCC1; does not show a decreased expression level of the MutS alpha complex and is not associated with an abnormal subcellular localization pattern; could be a polymorphism, MIM: 120435</li><li>I->V at 169: in HNPCC1; uncertain pathogenicity, MIM: 120435</li><li>L->P at 173: in HNPCC1; affects protein stability; associated with an absence of the protein in tumors, MIM: 120435</li><li>L->P at 175: in HNPCC1, MIM: 120435</li><li>L->P at 187: in HNPCC1; affects protein stability; associated with an absence of the protein in tumors, MIM: 120435</li><li>E->G at 198: in HNPCC1, MIM: 120435</li><li>C->R at 199: in glioma; also associated with HNPCC1; has no effect on ex vivo splicing assay, MIM: 120435</li><li>G->R at 203: in CRC; uncertain pathogenicity; somatic mutation, MIM: 120435</li><li>I->V at 216: in HNPCC1; could be a polymorphism; shows slightly reduced mismatch binding or release efficiency, MIM: 120435</li><li>K->Q at 246: in HNPCC1; uncertain pathogenicity, MIM: 120435</li><li>Missing  at 265-314: in HNPCC1, MIM: 120435</li><li>A->V at 272: associated wiht HNPCC1; shows slightly reduced mismatch binding or release efficiency; results in partial exon 5 skipping on ex vivo splicing assay; dbSNP:rs34136999, MIM: 120435</li><li>D->Y at 283: in HNPCC1, MIM: 120435</li><li>A->T at 305: in HNPCC1, MIM: 120435</li><li>G->D at 322: common polymorphism; may be associated with increased colorectal cancer susceptibility; the equivalent substitution in yeast reduces the mismatch repair efficiency in vitro; shows slightly reduced mismatch binding or release efficiency; dbSNP:rs4987188, MIM: 120435</li><li>S->C at 323: in HNPCC1; uncertain pathogenicity, MIM: 120435</li><li>S->Y at 323: in HNPCC1; uncertain pathogenicity, MIM: 120435</li><li>N->D at 331: associated with HNPCC1; has no effect on ex vivo splicing assay, MIM: 120435</li><li>C->Y at 333: in HNPCC1; affects protein stability; associated with an absence of the protein in tumors, MIM: 120435</li><li>T->I at 335: in HNPCC1; uncertain pathogenicity, MIM: 120435</li><li>P->S at 336: in HNPCC1, MIM: 120435</li><li>V->I at 342: in colorectal cancer, MIM: 120435</li><li>P->L at 349: in HNPCC1, MIM: 120435</li><li>R->S at 359: in HNPCC1; shows a decreased expression level of the MutS alpha comp lex and is associated with an abnormal subcellular localization pattern, MIM: 120435</li><li>L->F at 390: in HNPCC1; uncertain pathogenicity; the equivalent substitution in yeast partially affects mismatch repair in vitro; dbSNP:rs17224367, MIM: 120435</li><li>K->M at 393: in HNPCC1, MIM: 120435</li><li>Q->K at 419: in CRC; uncertain pathogenicity; the equivalent substitution in yeast partially affects mismatch repair in vitro, MIM: 120435</li><li>Missing  at 440: in HNPCC1, MIM: 120435</li><li>V->E at 470: associated with HNPCC1; has no effect on ex vivo splicing assay, MIM: 120435</li><li>M->V at 492: in HNPCC1, MIM: 120435</li><li>D->Y at 506: in CRC; sporadic; early onset; the equivalent substitution in yeast partially affects mismatch repair in vitro, MIM: 120435</li><li>R->P at 524: in HNPCC1; defective in mismatch repair activity, MIM: 120435</li><li>T->P at 552: in HNPCC1, MIM: 120435</li><li>S->R at 554: in HNPCC1; could be a polymorphism, MIM: 120435</li><li>E->V at 562: in HNPCC1, MIM: 120435</li><li>T->A at 564: in HNPCC1; uncertain pathogenicity; dbSNP:rs55778204, MIM: 120435</li><li>N->S at 583: in HNPCC1, MIM: 120435</li><li>N->S at 596: in HNPCC1; could be a polymorphism; dbSNP:rs41295288, MIM: 120435</li><li>Missing  at 596: in HNPCC1; has no effect on ex vivo splicing assay, MIM: 120435</li><li>A->V at 600: in HNPCC1, MIM: 120435</li><li>D->N at 603: in HNPCC1; affects protein stability; associated with an absence of the protein in tumors, MIM: 120435</li><li>H->N at 610: associated with HNPCC1; has no effect on ex vivo splicing assay, MIM: 120435</li><li>Y->C at 619: in CRC, MIM: 120435</li><li>P->L at 622: in HNPCC1; the equivalent substitution in yeast causes loss of function in a mismatch repair assay: in dbSNP rsrs28929483, MIM: 120435</li><li>Q->R at 629: in HNPCC1; uncertain pathogenicity, MIM: 120435</li><li>A->P at 636: in HNPCC1; partial functional loss; mainly causes defects in mismatch binding or release efficiency, MIM: 120435</li><li>R->G at 638: associated with HNPCC1; has no effect on ex vivo splicing assay, MIM: 120435</li><li>H->R at 639: in HNPCC1, MIM: 120435</li><li>H->Y at 639: in HNPCC1; the equivalent substitution in yeast does not affect mismatch repair efficiency in vitro: in dbSNP rsrs28929484, MIM: 120435</li><li>C->G at 641, MIM: 120435</li><li>Q->E at 645: associated with HNPCC1; has no effect on ex vivo splicing assay, MIM: 120435</li><li>E->K at 647: in HNPCC1, MIM: 120435</li><li>Y->H at 656: in HNPCC1; somatic mutation, MIM: 120435</li><li>D->G at 660: in HNPCC1, MIM: 120435</li><li>P->L at 670: in dbSNP:rs41294982, MIM: 120435</li><li>N->Y at 671: in HNPCC1; uncertain pathogenicity, MIM: 120435</li><li>G->S at 674: in HNPCC1; somatic mutation, MIM: 120435</li><ul><li>G->A at 674: Mainly causes defects in mismatch binding or release efficiency</li></ul><li>I->T at 679: in HNPCC1; somatic mutation, MIM: 120435</li></ul><li>M->I at 688: in HNPCC1, MIM: 120435</li></ul><li>G->R at 692: in HNPCC1, MIM: 120435</li></ul><li>P->L at 696: associated with HNPCC1; has no effect on ex vivo splicing assay, MIM: 120435</li></ul><li>C->F at 697: in HNPCC1; the equivalent substitution in yeast causes loss of function in a mismatch repair assay; mainly causes defects in mismatch binding or release efficiency, MIM: 120435</li></ul><li>C->R at 697: in HNPCC1; has no effect on ex vivo splicing assay, MIM: 120435</li></ul><li>A->V at 714: in HNPCC1; uncertain pathogenicity, MIM: 120435</li></ul><li>S->F at 723: in HNPCC1; has no effect on ex vivo splicing assay, MIM: 120435</li></ul><li>M->V at 729: in HNPCC1; somatic mutation, MIM: 120435</li></ul><li>T->I at 732: in HNPCC1; somatic mutation, MIM: 120435</li></ul><li>Missing  at 745-746: in HNPCC1; mainly causes defects in mismatch binding or release efficiency, MIM: 120435</li></ul><li>D->Y at 748: associated with HNPCC1; has no effect on ex vivo splicing assay, MIM: 120435</li></ul><li>E->K at 749: in HNPCC1; mainly causes defects in mismatch binding or release efficiency; the mutant protein is well expressed in tumors, MIM: 120435</li></ul><li>I->V at 770, MIM: 120435</li></ul><li>M->I at 779: in dbSNP:rs41295292, MIM: 120435</li></ul><li>T->S at 807: in dbSNP:rs41295294, MIM: 120435</li></ul><li>M->V at 813: in HNPCC1, MIM: 120435</li></ul><li>Q->E at 824: in gastric cancer; uncertain pathogenicity, MIM: 120435</li></ul><li>A->T at 834: in HNPCC1; shows no defects; could be a polymorphism, MIM: 120435</li></ul><li>N->H at 835: in dbSNP:rs41295296, MIM: 120435</li></ul><li>H->Q at 839: associated with HNPCC1; has no effect on ex vivo splicing assay, MIM: 120435</li></ul><li>H->R at 839: in HNPCC1, MIM: 120435</li></ul><li>K->E at 845: in HNPCC1, MIM: 120435</li></ul><li>E->A at 853: in HNPCC1; uncertain pathogenicity, MIM: 120435</li></ul><li>P->A at 868: in gastric cancer; uncertain pathogenicity, MIM: 120435</li></ul><li>A->G at 870: in gastric cancer; uncertain pathogenicity, MIM: 120435</li></ul><li>C->G at 873: in gastric cancer; uncertain pathogenicity, MIM: 120435</li></ul><li>E->G at 886: in HNPCC1, MIM: 120435</li></ul><li>T->R at 905: in HNPCC1; could be a polymorphism, MIM: 120435</li></ul><li>L->R at 911: in dbSNP:rs41295182, MIM: 120435</li></ul><li>V->E at 923: in HNPCC1; could be a polymorphism, MIM: 120435</li></ul><li>K->T at 931: in HNPCC1, MIM: 120435</li></ul>	<li>DNA repair</li><li>mismatch repair</li><li>localization</li>	<li>GO:0006281</li><li>GO:0006298</li><li>GO:0051179</li>	binding	GO:0005488			<li>Q4FV41</li><li>Q8DWW1</li><li>Q7UP05</li><li>Q5WFY3</li><li>Q8XL87</li><li>Q9R0G6</li><li>Q4L5Z9</li><li>Q5N0X9</li><li>Q3IUH3</li><li>Q5FLX5</li><li>Q03834</li><li>Q30ZX3</li><li>Q3ZYA0</li><li>Q4QML2</li><li>P27345</li><li>Q636Q7</li><li>Q3YSJ8</li><li>Q8L925</li><li>Q7NLT8</li><li>Q65QA9</li><li>Q8A334</li><li>Q6G0X1</li><li>Q87XW6</li><li>Q47DJ8</li><li>Q8PMX2</li><li>Q47WN0</li><li>Q5F5J4</li><li>Q3SJP0</li><li>Q6D8C1</li><li>Q8K9D2</li><li>Q5L0E5</li><li>Q8YES6</li><li>Q8PWA7</li><li>P47763</li><li>Q82ZA2</li><li>Q87LQ9</li><li>Q7NRW7</li><li>Q89AD3</li><li>Q92BV3</li><li>Q5HBQ7</li><li>Q5HGD6</li><li>Q7N8K0</li><li>P16960</li><li>Q5QUB6</li><li>Q38YR4</li><li>Q9KUI6</li><li>Q8KCC0</li><li>Q8F496</li><li>Q8RFK2</li><li>Q5E7G7</li><li>O51737</li><li>P74926</li><li>Q3BVY0</li><li>Q6AQ04</li><li>Q7V978</li><li>Q8Y789</li><li>Q5L554</li><li>Q931S8</li><li>Q8EBR9</li><li>Q9AC54</li><li>O84797</li><li>P44834</li><li>Q8TTB4</li><li>P56883</li><li>Q88ME7</li><li>Q6MBV4</li><li>Q60BA1</li><li>Q3SVD4</li><li>Q7W880</li><li>Q89VX1</li><li>Q8G310</li><li>Q57FM9</li><li>Q8DRW8</li><li>Q3KH79</li><li>Q7WLT5</li><li>Q56215</li><li>P0A1Y1</li><li>Q98C21</li><li>Q05488</li><li>Q6G542</li><li>Q9S6P8</li><li>P0A1Y0</li><li>Q7VKA1</li><li>P65493</li><li>Q7MHR2</li><li>Q3Z767</li><li>P65494</li><li>Q4UM86</li><li>Q9ZDM9</li><li>P57972</li><li>Q3JCL5</li><li>Q9CDK9</li><li>Q4US90</li><li>Q64MG7</li><li>Q8ZBQ3</li><li>Q6HF46</li><li>Q4ZWP5</li><li>Q3AQZ8</li><li>Q63SR9</li><li>P52701</li><li>Q81A25</li><li>Q891U1</li><li>Q7UA23</li><li>Q71ZR7</li><li>Q31X95</li><li>Q9PLD0</li><li>Q8UIF2</li><li>Q5L7B7</li><li>Q8DC53</li><li>Q5NL79</li><li>Q8E2R3</li><li>Q9ZIX6</li><li>Q87CI8</li><li>Q3ACA5</li><li>P70755</li><li>Q7VY01</li><li>Q895H2</li><li>Q8CPF0</li><li>Q65ZX6</li><li>Q56239</li><li>P0C1S1</li><li>Q5NEV8</li><li>Q97I19</li><li>Q68X73</li><li>Q99XL8</li><li>Q5M6I1</li><li>Q5HPP5</li><li>Q9HY08</li><li>Q8DGS4</li><li>Q9KAC0</li><li>Q8PBB5</li><li>Q32CJ6</li><li>Q8CXG6</li><li>Q82U08</li><li>Q5X4B2</li><li>Q8RA71</li><li>Q9JX94</li><li>Q7UZL6</li><li>Q8FEL3</li><li>Q92IL9</li><li>Q3JYM3</li><li>Q6GHE0</li><li>Q473E4</li><li>Q81WR3</li><li>Q8NZ24</li><li>Q6G9R8</li><li>Q7V9M5</li><li>Q5ZUJ3</li><li>Q4KHE3</li><li>Q49X88</li><li>Q8Y093</li><li>Q46CE2</li><li>O66652</li><li>Q48QT6</li><li>Q39EX8</li><li>Q48F92</li><li>Q5H2C5</li><li>Q88UZ7</li><li>Q9Z6W5</li><li>Q46IE5</li><li>Q5FHE8</li><li>P23909</li><li>O83348</li><li>Q821V6</li><li>Q66EB5</li><li>Q3A4F1</li><li>Q5M1Z0</li><li>Q6FC54</li><li>Q3KKQ0</li><li>Q8K5J5</li><li>P49849</li><li>Q67NK1</li><li>Q2FYZ9</li><li>Q65JE2</li><li>Q7MXR7</li><li>Q83QE9</li><li>Q6LMU0</li><li>Q5X9F3</li><li>Q3IDC8</li><li>P35444</li><li>P61672</li><li>P61673</li><li>P61670</li><li>P61671</li><li>Q57KL5</li><li>Q83CQ2</li><li>Q62J26</li><li>Q5PEE6</li><li>Q5LWH0</li><li>Q9JWT7</li><li>Q890S0</li><li>P61667</li><li>P61668</li><li>P61669</li><li>P61665</li><li>P61666</li><li>Q3IYI5</li><li>P57504</li><li>Q3JQS6</li><li>Q5WVP6</li><li>Q5NYP9</li><li>P73769</li><li>Q9PCR2</li><li>Q3YYC9</li>	Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]	<li>rs34136999</li><li>rs17217716</li><li>rs33946261</li><li>rs41294982</li><li>rs28929483</li><li>rs28929484</li><li>rs41295286</li><li>rs17217723</li><li>rs41295288</li><li>rs41295294</li><li>rs17217772</li><li>rs41295296</li><li>rs55778204</li><li>rs17224367</li><li>rs41295292</li><li>rs41295182</li><li>rs4987188</li>	4
P43250	2870	<ul><li>C->S at 561: Abolishes palmitoylation; when associated with S-562 and S-565</li><li>C->S at 562: Abolishes palmitoylation; when associated with S-561 and S-565</li><li>C->S at 565: Abolishes palmitoylation; when associated with S-561 and S-562</li></ul>	<li>R->Q at 31: in a gastric adenocarcinoma sample; somatic mutation</li><li>T->M at 73: in dbSNP rsrs56382815</li><li>I->M at 275: in a breast infiltrating ductal carcinoma sample; somatic mutation</li>									rs56382815	3
P43355	4100	<ul><li>D->A at 163: Abolishes HLA-A1 binding</li><li>Y->A at 169: Abolishes HLA-A1 binding</li></ul>	<li>T->A at 32: probable polymorphism; dbSNP:rs2008160</li><li>A->T at 63: in dbSNP:rs2233044</li><li>R->Q at 72: in dbSNP:rs2008144</li><li>K->T at 278: in a breast cancer sample; somatic mutation</li>			binding	GO:0005488					<li>rs2008160</li><li>rs2233044</li><li>rs2008144</li>	3
P43356	266740	<ul><li>V->D at 170: Improves ability to bind to HLA-A1</li></ul>											1
P43357	4102	<ul><li>D->A at 170: Abolishes HLA-A1 binding</li><li>Y->A at 176: Abolishes HLA-A1 binding</li></ul>				binding	GO:0005488						1
P43403	7535	<ul><li>Y->F at 315: No inhibition of activation</li><li>Y->F at 319: Inhibition of activation</li></ul>	<li>R->L at 175: in dbSNP rsrs55964305</li><li>P->L at 191: in dbSNP rsrs56403250</li><li>G->E at 448: in a head and neck squamous cell carcinoma sample; somatic mutation</li><li>R->H at 465: in STD, MIM: 176947</li><li>S->R at 518: in STD, MIM: 176947</li><li>W->L at 523: in dbSNP rsrs56189815, MIM: 176947</li><li>K->KLEQ at 541: in STD, MIM: 176947</li>							<li>P52842</li><li>Q06520</li><li>P50234</li>	Selective T-cell defect (STD) [MIM:176947]	<li>rs55964305</li><li>rs56189815</li><li>rs56403250</li>	3
P45381	443	<ul><li>R->K at 71: Reduces activity by 99%</li><li>Y->F at 164: Reduces activity by 99%</li><li>R->K at 168: Reduces activity by 99%</li><li>E->A at 178: Reduces activity by 99%</li><li>E->D at 285: 5-fold decrease in activity</li><li>Y->F at 288: Reduces activity by 99%</li></ul>	<li>I->T at 16: in CAND; <0.5% residual enzyme activity, MIM: 271900</li><li>H->P at 21: in CAND, MIM: 271900</li><li>E->G at 24: in CAND, MIM: 271900</li><li>G->R at 27: in CAND; 3% residual enzyme activity, MIM: 271900</li><li>A->T at 57: in CAND, MIM: 271900</li><li>D->A at 68: in CAND, MIM: 271900</li><li>D->E at 114: in CAND; <0.5% residual enzyme activity, MIM: 271900</li><li>D->Y at 114: in CAND, MIM: 271900</li><li>G->E at 123: in CAND; about 25% residual enzyme activity, MIM: 271900</li><li>I->T at 143: in CAND; in a Japanese patient, MIM: 271900</li><li>C->R at 152: in CAND; loss of activity, MIM: 271900</li><li>C->W at 152: in CAND, MIM: 271900</li><li>C->Y at 152: in CAND; <0.5% residual enzyme activity, MIM: 271900</li><li>R->C at 168: in CAND; undetectable enzyme activity, MIM: 271900</li><ul><li>R->K at 168: Reduces activity by 99%</li></ul><li>R->H at 168: in CAND, MIM: 271900</li><ul><li>R->K at 168: Reduces activity by 99%</li></ul><li>Missing  at 176-177: in CAND, MIM: 271900</li></ul><li>P->T at 181: in CAND, MIM: 271900</li></ul><li>P->H at 183: in CAND, MIM: 271900</li></ul><li>V->F at 186: in CAND, MIM: 271900</li></ul><li>M->R at 195: in CAND, MIM: 271900</li></ul><li>Y->C at 231: in CAND, MIM: 271900</li></ul><li>H->R at 244: in CAND, MIM: 271900</li></ul><li>D->V at 249: in CAND, MIM: 271900</li></ul><li>G->R at 274: in CAND, MIM: 271900</li></ul><li>P->L at 280: in CAND, MIM: 271900</li></ul><li>P->S at 280: in CAND, MIM: 271900</li></ul><li>E->A at 285: in CAND; predominant mutation in Ashkenazi Jewish population; 99% loss of activity; dbSNP:rs28940279, MIM: 271900</li><ul><li>E->D at 285: 5-fold decrease in activity</li></ul><li>A->T at 287: in CAND, MIM: 271900</li></ul><li>F->S at 295: in CAND, MIM: 271900</li></ul><li>A->E at 305: in CAND; loss of activity; pan-European origin; most prevalent among non-Jewish CAND patients; probably the most ancient mutation; dbSNP:rs28940574, MIM: 271900</li></ul><li>C->G at 310, MIM: 271900</li></ul>								Canavan disease (CAND) [MIM:271900]	<li>rs28940279</li><li>rs28940574</li>	4
P45983	5599	<ul><li>T->A at 183: Phosphorylation blocked</li><li>Y->F at 185: Phosphorylation blocked</li></ul>	<li>G->S at 171: in a renal clear cell carcinoma sample; somatic mutation</li><li>G->R at 177: in a glioblastoma multiforme sample; somatic mutation</li><li>E->K at 365: in dbSNP:rs45483593</li>	Phosphorylation	GO:0016310							rs45483593	3
P46060	5905	<ul><li>K->R at 524: No association with mitotic spindles during mitosis</li></ul>	<li>E->Q at 133: in dbSNP:rs2229752</li>	mitosis	GO:0007067			spindles	GO:0005819			rs2229752	3
P46063	5965	<ul><li>K->A at 119: Abrogates helicase activity</li></ul>	<li>V->I at 102: in dbSNP:rs1065751</li><li>V->I at 372: in dbSNP:rs2230003</li><li>K->T at 487: in dbSNP:rs6501</li><li>D->H at 495: in dbSNP:rs6499</li>							<li>Q8V736</li><li>O67037</li><li>Q9UZ86</li><li>Q68772</li><li>O51934</li><li>P74759</li><li>P37987</li><li>P22657</li><li>Q04575</li><li>Q971T7</li><li>P27328</li><li>P28726</li><li>Q07630</li><li>P27327</li><li>Q3I5J6</li><li>Q9WJB2</li><li>Q66914</li><li>P16342</li><li>Q89273</li><li>P36286</li><li>Q66198</li><li>P19751</li><li>P22168</li><li>Q8V6W7</li><li>P28897</li><li>Q96725</li><li>P19811</li><li>Q91A29</li><li>O29238</li><li>P09395</li><li>P15402</li><li>Q86117</li><li>P09498</li><li>Q86119</li><li>Q58907</li><li>Q83017</li><li>Q97ZF5</li><li>Q8R979</li><li>Q6F598</li><li>Q08582</li><li>Q91AV2</li><li>P17779</li><li>O58530</li><li>O67226</li><li>Q07518</li><li>P95479</li><li>P54634</li><li>Q8ZXT5</li><li>Q9IW06</li><li>Q04544</li><li>Q975P6</li><li>P17965</li><li>Q8V439</li><li>Q91QT2</li><li>Q04561</li><li>P27411</li><li>Q97ZZ8</li><li>P27920</li><li>P27410</li><li>P22591</li><li>P20951</li><li>Q9PYA3</li><li>P15095</li><li>Q9YN02</li><li>P27407</li><li>Q06502</li><li>P18458</li><li>Q05002</li><li>Q9YCB6</li><li>P59641</li><li>Q69014</li><li>Q8B912</li><li>P27409</li><li>Q9YC75</li>		<li>rs6501</li><li>rs6499</li><li>rs2230003</li><li>rs1065751</li>	3
P46098	3359	<ul><li>W->S at 178: Abolished ligand binding to the heteromeric receptor</li><li>R->Q at 432: Little effect on conductance. Massive increase of conductance; when associated with D-436 and A-440</li><li>R->D at 436: Increased conductance. Massive increase of conductance; when associated with Q-432 and A-440</li><li>R->A at 440: Increased conductance. Massive increase of conductance; when associated with Q-432 and D-436</li></ul>	<li>A->T at 33</li><li>S->N at 253: in dbSNP:rs4938063</li><li>R->H at 344: in dbSNP:rs35815285</li><li>P->R at 391</li><li>R->Q at 409</li>			binding	GO:0005488					<li>rs4938063</li><li>rs35815285</li>	3
P46108	1398	<ul><li>D->K at 150: Abolishes interaction with DOCK1</li></ul>								Q14185			1
P46379	7917	<ul><li>D->A at 1001: Abolishes cleavage by caspase-3</li></ul>	<li>S->P at 625: in dbSNP:rs1052486</li><li>A->V at 728: in dbSNP:rs11548856</li>									<li>rs1052486</li><li>rs11548856</li>	3
P46527	1027	<ul><li>S->A at 10: Loss of phosphorylation by UHMK1. No translocation to the cytoplasm. Greater cell cycle arrest</li><li>S->D at 10: Exported to the cytoplasm. Inhibits cell cycle arrest</li><li>S->E at 10: Increased stability in vivo and in vitro</li><li>Y->F at 74: No change in binding CDK4. Translocates to nucleus</li><li>Y->F at 88: Abolishes LYN-mediated phosphorylation. Reduced CDK2 phosphorylation on T-187. Greater cell cycle arrest into S-phase. No effect on binding CDK2 complexes. Reduction of CDK4 binding. No nuclear translocation. Completely abolishes CDK4 binding; when associated with F-89</li><li>Y->F at 89: No effect on binding CDK2 complexes. Reduction of CDK4 binding. No nuclear translocation. Completely abolishes CDK4 binding; when associated with F-88</li><li>T->A at 157: Greatly reduced PKB/AKT1-mediated phosphorylation. Nuclear location. Inhibits cyclin E/CDK2 cell cycle progression. No effect on binding AKT1. Completely abolishes PKB/AKT1-mediated phosphorylation and no cytoplasmic translocation; when associated with A-198</li><li>S->A at 161: No change in PKB/AKT1-mediated phosphorylation</li><li>T->A at 162: No change in PKB/AKT1-mediated phosphorylation</li><li>T->A,D at 187: No change in PKB/AKT1- nor UHMK1-mediated phosphorylation</li><li>T->A,D at 198: Abolishes PKB/AKT1-mediated phosphorylation. 46% cytoplasmic location. Greatly reduced binding to YWHAQ. Equally reduced binding; when associated with A-10 and A-187. No nuclear import; when associated with A-157. Completely abolishes PKB/AKT1-mediated phosphorylation and no cytoplasmic translocation; when associated with A-157</li></ul>	<li>R->W at 15: in dbSNP:rs2066828</li><li>V->G at 109: in dbSNP:rs2066827</li>	<li>phosphorylation</li><li>cell cycle</li><li>S-phase</li><li>nuclear import</li><li>cell cycle arrest</li>	<li>GO:0016310</li><li>GO:0007049</li><li>GO:0051320</li><li>GO:0051170</li><li>GO:0007050</li>	binding	GO:0005488	<li>cytoplasm</li><li>nucleus</li>	<li>GO:0005737</li><li>GO:0005634</li>	<li>P04961</li><li>P22177</li><li>O16852</li><li>Q5ZMD1</li><li>P61074</li><li>Q8INB9</li><li>Q5RFJ2</li><li>Q38998</li><li>O55076</li><li>P27348</li><li>P31750</li><li>Q6Q6X0</li><li>P18248</li><li>P53358</li><li>P47196</li><li>O01377</li><li>Q01314</li><li>P12004</li><li>Q8VYX2</li><li>P07948</li><li>Q3SZI4</li><li>Q00268</li><li>Q00265</li><li>Q8TAS1</li><li>P24314</li><li>P24941</li><li>P17070</li><li>P48963</li><li>Q5E9Y0</li><li>P43450</li><li>P11802</li><li>P79432</li><li>O97790</li><li>P17917</li><li>P31008</li><li>P17918</li><li>P31749</li>		<li>rs2066828</li><li>rs2066827</li>	3
P46734	5606	<ul><li>S->A at 218: Inactivation</li><li>S->E at 218: Constitutive activation</li><li>T->A at 222: Inactivation</li><li>T->E at 222: Constitutive activation</li></ul>	<li>R->T at 26: in dbSNP rsrs36047035</li><li>P->T at 40: in dbSNP:rs33911218</li><li>S->P at 68: in dbSNP:rs34105301</li><li>A->T at 84: in dbSNP:rs2305873</li><li>M->I at 90: in dbSNP:rs36076766</li><li>R->L at 94: in dbSNP:rs56067280</li><li>R->W at 96: in dbSNP:rs56216806</li><li>R->W at 175: in colon cancer</li><li>L->V at 215: in colon cancer</li><li>R->H at 293: in dbSNP:rs35206134</li><li>V->M at 339: in dbSNP rsrs2363198</li>									<li>rs2363198</li><li>rs36047035</li><li>rs35206134</li><li>rs36076766</li><li>rs33911218</li><li>rs56216806</li><li>rs34105301</li><li>rs2305873</li><li>rs56067280</li>	3
P46940	8826	<ul><li>S->A at 1441: Abolishes neurite outgrowth promoting activity; when associated with A-1443</li><li>S->E at 1441: Strongly enhances neurite outgrowth promoting activity; when associated with A-1443</li><li>S->A at 1443: Abolishes neurite outgrowth promoting activity; when associated with A-1441</li><li>S->D at 1443: Strongly enhances neurite outgrowth promoting activity; when associated with A-1441</li></ul>	<li>S->A at 256: in dbSNP:rs12324924</li>									rs12324924	3
P47712	5321	<ul><li>C->A at 139: No effect on phospholipase activity; when associated with A-141 and A-151</li><li>C->A at 141: No effect on phospholipase activity; when associated with A-139 and A-151</li><li>C->A at 151: No effect on phospholipase activity; when associated with A-139 and A-141</li><li>S->A at 195: 5-fold reduced phospholipase and lysophosphatase activities. 100-fold reduced phospholipase and lysophosphatase activities; when associated with A-577</li><li>S->A at 215: No effect on phospholipase or lysophosphatase activity</li><li>C->A at 220: No effect on phospholipase activity</li><li>S->A,C,T at 228: Abolishes both phospholipase and lysophosphatase activities</li><li>C->A at 324: No effect on phospholipase activity; when associated with A-331</li><li>C->A at 331: No effect on phospholipase activity; when associated with A-324</li><li>S->A at 505: Decreases agonist-stimulated release of arachidonic acid</li><li>S->A at 577: 7-fold reduced phospholipase and lysophosphatase activities. 100-fold reduced phospholipase and lysophosphatase activities; when associated with A-195</li><li>C->A at 620: No effect on phospholipase activity; when associated with A-634</li><li>C->A at 634: No effect on phospholipase activity; when associated with A-620</li><li>C->A at 726: No effect on phospholipase activity</li></ul>	<li>G->R at 103: in dbSNP:rs28395828</li><li>V->I at 224: in dbSNP:rs12720588</li><li>H->Q at 442: in a breast cancer sample; somatic mutation</li><li>K->R at 651: in dbSNP:rs2307198</li>			phospholipase activity	GO:0004620					<li>rs12720588</li><li>rs28395828</li><li>rs2307198</li>	3
P48023	356	<ul><li>P->D,F,R at 206: Lowers binding to TNFRSF6 and reduces cytotoxity more than 100-fold</li><li>Y->F,R at 218: Lowers binding to TNFRSF6 and abolishes cytotoxity</li><li>F->L at 275: Abolishes binding to TNRFSF6 and cytotoxicity</li></ul>	<li>Y->S at 189: in dbSNP:rs12079514</li>			binding	GO:0005488			<li>O77736</li><li>Q9TSN4</li><li>P51867</li><li>Q9BDN0</li><li>P25445</li><li>Q9BDN4</li><li>Q9BDP2</li>		rs12079514	3
P48357	3953	<ul><li>Y->F at 986: Greatly reduced PTPN11 binding; no PTPN11 phosphorylation; no effect on STAT3 phosphorylation</li><li>YY->FF at 1078-1079: No effect on PTPN11 nor STAT3 phosphorylation</li><li>Y->F at 1141: No effect on PTPN11 phosphorylation; no STAT3 phosphorylation</li></ul>	<li>K->R at 109: in dbSNP:rs1137100</li><li>D->G at 124: in dbSNP:rs35573508</li><li>K->R at 204</li><li>Q->R at 223: in dbSNP:rs1137101</li><li>I->V at 503: in dbSNP:rs13306526</li><li>K->N at 656: in dbSNP:rs1805094 and dbSNP:rs8179183</li><li>S->T at 675</li><li>T->M at 699: in dbSNP:rs34499590</li>	phosphorylation	GO:0016310	binding	GO:0005488			<li>Q06124</li><li>Q90687</li><li>P61635</li><li>P40763</li>		<li>rs1805094 and dbSNP:rs8179183</li><li>rs34499590</li><li>rs13306526</li><li>rs1137101</li><li>rs1137100</li><li>rs35573508</li>	3
P48552	8204	<ul><li>PIDL->AAAA at 440-443: Abolishes interaction with CTBP1</li><li>PID->AIA at 440-442: Abolishes interaction with CTBP1 and attenuates nuclear hormone receptor-dependent transcription repression</li><li>DL->AA at 442-443: Reduces, but does not completely abolish, interaction with CTBP. Reduces transcriptional repression</li><li>DL->AS at 442-443: Disrupts interaction with CTBP1, and CTBP2 to a lesser extent. Disrupts transcriptional repression; when associated with 567-AS-568</li><li>K->Q at 446: Disrupts interaction with CTBP1. Decreases lysine acetylation. Disrupts nuclear hormone receptor-dependent transcription repression</li><li>K->R at 446: Does not disrupt nuclear hormone receptor-dependent transcription repression</li><li>NL->AA at 567-568: Disrupts transcriptional repression</li><li>NL->AS at 567-568: Disrupts interaction with CTBP1 and CTBP2. Disrupts transcriptional repression; when associated with 442-AS-443</li><li>SMDLT->PIAAS at 599-603: Does not further disrupt transcriptional repression; when associated with 442-AA-443 and 567-AA-568</li><li>DL->AA at 948-949: Abolishes CTBP binding but retains transcriptional repressor activity</li></ul>	<li>V->I at 37: in dbSNP:rs9941840</li><li>H->R at 221</li><li>Y->F at 315: in dbSNP:rs2228507</li><li>I->V at 441</li><li>R->G at 448: common polymorphism; associated with endometriosis in a case-control study; dbSNP:rs2229742</li><li>N->S at 567: in dbSNP:rs9975169</li><li>S->L at 803</li><li>V->F at 1079</li>	transcription	GO:0006350	<li>transcriptional repressor activity</li><li>binding</li>	<li>GO:0016564</li><li>GO:0005488</li>			<li>P56545</li><li>Q13363</li><li>Q61990</li>		<li>rs2228507</li><li>rs9975169</li><li>rs2229742</li><li>rs9941840</li>	3
P48595	5273	<ul><li>KKRK->AAAA at 74-77: Abolishes nuclear localization</li></ul>	<li>S->A at 3: in dbSNP:rs17072097</li><li>I->M at 41: in dbSNP:rs8097425</li><li>I->T at 99: in dbSNP:rs724558</li><li>G->D at 135: in dbSNP:rs17072146</li><li>P->S at 140: in dbSNP:rs9967382</li><li>R->C at 246: in dbSNP:rs963075</li><li>D->N at 360: in dbSNP:rs35453062</li>	localization	GO:0051179							<li>rs35453062</li><li>rs17072097</li><li>rs17072146</li><li>rs8097425</li><li>rs963075</li><li>rs9967382</li><li>rs724558</li>	3
P49336	1024	<ul><li>D->A at 173: Abrogates kinase activity and TFIIH-dependent transcriptional repression</li></ul>	<li>D->N at 189: in a lung neuroendocrine carcinoma sample; somatic mutation</li><li>R->C at 424: in a colorectal adenocarcinoma sample; somatic mutation</li>			kinase activity	GO:0016301						3
P49354	2339	<ul><li>K->N at 164: Reduced activity</li><li>N->K at 199: Reduced catalytic efficiency</li></ul>											1
P49356	2342	<ul><li>D->N at 200: Reduced catalytic efficiency</li><li>G->V at 249: Reduced catalytic efficiency</li><li>G->S at 349: Reduced catalytic efficiency</li></ul>											1
P49366	1725	<ul><li>N->A at 106: Strongly reduced NAD and spermidine binding. Reduced activity</li><li>S->A at 109: Strongly reduced spermidine binding. Reduced activity</li><li>E->A at 137: Strongly reduced NAD binding. Strongly reduced formation of covalent intermediate</li><li>D->A at 238: Strongly reduced NAD binding. Strongly reduced formation of covalent intermediate</li><li>D->A at 243: Reduces spermidine binding by 98%. Strongly reduced formation of covalent intermediate</li><li>K->A at 287: Reduces covalent intermediate formation and deoxyhypusine synthesis by 99.5%. Retains low spermidine cleavage activity</li><li>H->A at 288: Reduces spermidine binding by 98%. Strongly reduced NAD binding. Strongly reduced formation of covalent intermediate</li><li>Y->A at 305: Strongly reduced NAD binding. No effect on enzyme activity</li><li>D->A at 313: Strongly reduced NAD binding</li><li>D->A at 316: Reduces spermidine binding by 98%. Loss of covalent intermediate formation and deoxyhypusine synthesis</li><li>S->A at 317: Strongly reduced NAD binding. No effect on enzyme activity</li><li>E->A at 323: Reduces spermidine binding by 98%. Strongly reduced formation of covalent intermediate</li><li>W->A at 327: Reduces spermidine binding by 98%. Loss of covalent intermediate formation and deoxyhypusine synthesis</li><li>K->A,R at 329: Loss of covalent intermediate formation and deoxyhypusine synthesis</li><li>D->A at 342: Strongly reduced NAD binding. Strongly reduced activity</li></ul>	<li>E->D at 174: in dbSNP:rs10425108</li>			<li>reduced NAD binding</li><li>spermidine binding</li>	<li>GO:0051287</li><li>GO:0019809</li>					rs10425108	3
P49427	997	<ul><li>C->S at 93: Loss of function</li><li>L->S at 97: Loss of function</li><li>S->A at 231: Abolishes phosphorylation by CK2</li></ul>	<li>D->H at 227: in dbSNP:rs16990650</li>	phosphorylation	GO:0016310					<li>Q65ZV5</li><li>P43893</li><li>O51759</li>		rs16990650	3
P49450	1058	<ul><li>S->A at 7: Induces a delay at the terminal stage of cytokinesis and chromosome misalignment during mitosis due to a defect in kinetochore attachment to microtubules</li></ul>		<li>cytokinesis</li><li>mitosis</li>	<li>GO:0000910</li><li>GO:0007067</li>			<li>chromosome</li><li>microtubules</li><li>kinetochore</li>	<li>GO:0005694</li><li>GO:0005874</li><li>GO:0000776</li>				1
P49662	837	<ul><li>C->S at 258: Loss of activity</li></ul>											1
P49683	2834	<ul><li>Missing at 365-370: Abolishes binding to GRIP1 and PICK1</li><li>T->A at 365: No effect on binding to GRIP1</li><li>V->A at 366: No effect on binding to GRIP1</li><li>S->A at 367: Abolishes binding to GRIP1</li><li>V->A at 368: Abolishes binding to GRIP1</li><li>V->A at 369: No effect on binding to GRIP1</li><li>I->A at 370: Abolishes binding to GRIP1</li></ul>	<li>V->I at 283: in dbSNP:rs1613448</li><li>D->G at 302: in dbSNP:rs8192523</li>			binding	GO:0005488			<li>Q9Y3R0</li><li>Q9NRD5</li><li>Q96DT0</li>		<li>rs8192523</li><li>rs1613448</li>	3
P49716	1052	<ul><li>K->A at 120: Loss of sumoylation</li></ul>	<li>R->W at 248: in dbSNP:rs34948549</li>	sumoylation	GO:0016925							rs34948549	3
P49736	4171	<ul><li>S->A at 108: Reduces phosphorylation by ATR</li></ul>	<li>D->E at 68: in dbSNP:rs3087452</li><li>L->F at 135: in dbSNP:rs2307314</li><li>E->Q at 166: in dbSNP:rs1048225</li><li>A->T at 396: in dbSNP:rs3087450</li><li>G->R at 501: in dbSNP:rs13087457</li><li>V->M at 667: in dbSNP:rs2307311</li><li>A->T at 727: in dbSNP:rs2307313</li>	phosphorylation	GO:0016310					<li>Q13535</li><li>Q9H6X2</li><li>Q9FKS4</li><li>P20848</li>		<li>rs2307313</li><li>rs3087450</li><li>rs2307314</li><li>rs2307311</li><li>rs3087452</li><li>rs1048225</li><li>rs13087457</li>	3
P49758	9628	<ul><li>D->A at 297: Loss of interaction with Gbeta5</li><li>W->F at 309: Diminishes interaction with Gbeta5</li></ul>								<li>O14775</li><li>Q6PNB6</li><li>P62881</li><li>Q5RDY7</li><li>Q80ZD0</li><li>P62882</li>			1
P49767	7424	<ul><li>R->S at 227: No proteolytic processing and lower effect on VEGFR-2 and VEGFR-3</li></ul>								<li>P35968</li><li>Q8AXB3</li><li>P52583</li><li>P35917</li><li>P79701</li><li>Q91ZT1</li><li>O08775</li><li>P35916</li><li>P35918</li><li>Q5MD89</li>			1
P49768	5663	<ul><li>Missing at 66-72: No effect on interaction with GFAP</li><li>KY->AA at 76-77: No effect on interaction with GFAP</li><li>VI->EE at 82-83: Loss of interaction with GFAP</li><li>V->K,E at 82: Loss of interaction with GFAP</li><li>ML->EE at 84-85: Loss of interaction with GFAP</li><li>Y->F at 256: Alters gamma-secretase cleavage specificity. Increased production of amyloid beta(42). No effect on enzymatic activity</li><li>D->A at 257: Loss of endoproteolytic cleavage; reduces production of amyloid beta in APP processing and of NICD in NOTCH1 processing</li><li>D->E at 257: Abolishes gamma-secretase activity. Reduces production of amyloid beta in APP processing. Accumulation of full-length PS1. Loss of binding of transition state analog gamma-secretase inhibitor</li><li>L->A,E,P,Q,R,W at 286: Increases production of amyloid beta in APP processing</li><li>L->E,R at 286: Reduces production of NICD in NOTCH1 processing</li><li>M->D at 292: Loss of endoproteolytic cleavage</li><li>S->A at 310: Abolishes PKA-mediated phosphorylation; no effect on caspase-mediated cleavage</li><li>D->N at 345: Abolishes caspase cleavage</li><li>S->A at 346: Abolishes PKC-mediated phosphorylation; no effect on PKA-mediated phosphorylation</li><li>S->E at 346: Inhibits caspase-mediated cleavage. Modulates progression of apoptosis</li><li>D->N at 373: No effect on caspase cleavage</li><li>D->A at 385: Loss of endoproteolytic cleavage. Reduces production of amyloid beta in APP processing. Disassembly of the N-cadherin/PS1 complex at the cell surface. Impairs CDH2 processing</li><li>D->E at 385: Abolishes gamma-secretase activity. Reduces production of amyloid beta in APP processing. Accumulation of full-length PS1. Loss of binding of transition state analog gamma-secretase inhibitor</li><li>D->N at 385: No effect on caspase cleavage</li><li>Y->F at 389: Alters gamma-secretase cleavage specificity. Increased production of amyloid beta(42). No effect on enzymatic activity</li><li>P->A at 433: No effect on endoproteolytic cleavage. No effect on APP nor NOTCH1 processing. Slightly increased Abeta42/Abeta40 ratio</li><li>P->D,F,L,N,V at 433: No endoproteolytic cleavage; no APP nor NOTCH1 processing. No detectable Abetano detectable Abeta</li><li>P->G at 433: Very little endoproteolysis. Little APP processing. No NOTCH1 processing. Very low levels Abeta40 and no detectable Abeta42</li><li>A->C at 434: Some loss of endoproteolytic cleavage. Some loss of APP and NOTCH1 processing. Six-fold increase in Abeta42/Abeta40 ratio</li><li>A->D,I,L,V at 434: No endoproteolytic cleavage. No APP nor NOTCH1 processing. No detectable Abeta</li><li>A->G at 434: No effect on endoproteolytic cleavage. No effect on APP nor NOTCH1 processing. Reduced Abeta42/Abeta40 ratio</li><li>L->A at 435: No effect on endoproteolytic cleavage. No effect on APP processing. Impaired NOTCH1 processing. Greatly reduced Abeta42/Abeta40 ratio</li><li>L->F at 435: No endoproteolytic cleavage. No APP nor NOTCH1 processing. No detectable Abeta</li><li>L->G at 435: Greatly reduced endoproteolytic cleavage. Very little APP and NOTCH1 processing. Very low levels of Abeta40 and no detectable Abeta42</li><li>L->I at 435: No effect on endoproteolytic cleavage. No effect on APP nor NOTCH1 processing</li><li>L->V at 435: No effect on endoproteolytic cleavage. No effect on APP processing. Impaired NOTCH1 processing. Some increase in Abeta42/Abeta40 ratio</li></ul>	<li>A->V at 79: in AD3; no effect on interaction with GFAP, MIM: 607822</li><li>V->L at 82: in AD3; no effect on interaction with GFAP, MIM: 607822</li><ul><li>V->K,E at 82: Loss of interaction with GFAP</li></ul><li>C->S at 92: in AD3, MIM: 607822</li></ul><li>V->F at 96: in AD3, MIM: 607822</li></ul><li>F->L at 105: in AD3, MIM: 607822</li></ul><li>L->P at 113: in frontotemporal dementia, MIM: 600274</li></ul><li>Y->C at 115: in AD3, MIM: 607822</li></ul><li>Y->H at 115: in AD3, MIM: 607822</li></ul><li>T->N at 116: in AD3, MIM: 607822</li></ul><li>P->L at 117: in AD3, MIM: 607822</li></ul><li>E->D at 120: in AD3, MIM: 607822</li></ul><li>E->K at 120: in AD3, MIM: 607822</li></ul><li>N->D at 135: in AD3, MIM: 607822</li></ul><li>M->I at 139: in AD3, MIM: 607822</li></ul><li>M->K at 139: in AD3, MIM: 607822</li></ul><li>M->T at 139: in AD3, MIM: 607822</li></ul><li>M->V at 139: in AD3, MIM: 607822</li></ul><li>I->F at 143: in AD3, MIM: 607822</li></ul><li>I->T at 143: in AD3, MIM: 607822</li></ul><li>M->I at 146: in AD3, MIM: 607822</li></ul><li>M->L at 146: in AD3, MIM: 607822</li></ul><li>M->V at 146: in AD3, MIM: 607822</li></ul><li>T->I at 147: in AD3, MIM: 607822</li></ul><li>H->R at 163: in AD3, MIM: 607822</li></ul><li>H->Y at 163: in AD3, MIM: 607822</li></ul><li>W->C at 165: in AD3, MIM: 607822</li></ul><li>L->P at 166: in AD3; onset in adolescence, MIM: 607822</li></ul><li>S->L at 169: in AD3, MIM: 607822</li></ul><li>S->P at 169: in AD3, MIM: 607822</li></ul><li>L->P at 171: in AD3, MIM: 607822</li></ul><li>L->W at 173: in AD3, MIM: 607822</li></ul><li>L->M at 174: in AD3, MIM: 607822</li></ul><li>F->L at 205: in dbSNP:rs1042864, MIM: 607822</li></ul><li>G->A at 206: in AD3, MIM: 607822</li></ul><li>G->R at 209: in AD3, MIM: 607822</li></ul><li>G->V at 209: in AD3, MIM: 607822</li></ul><li>I->T at 213: in AD3, MIM: 607822</li></ul><li>L->P at 219: in AD3, MIM: 607822</li></ul><li>A->T at 231: in AD3, MIM: 607822</li></ul><li>A->V at 231: in AD3, MIM: 607822</li></ul><li>M->L at 233: in AD3, MIM: 607822</li></ul><li>M->T at 233: in AD3, MIM: 607822</li></ul><li>L->P at 235: in A3D, MIM: 607822</li></ul><li>A->E at 246: in AD3, MIM: 607822</li></ul><li>L->S at 250: in AD3, MIM: 607822</li></ul><li>A->V at 260: in AD3, MIM: 607822</li></ul><li>L->F at 262: in AD3, MIM: 607822</li></ul><li>C->R at 263: in AD3, MIM: 607822</li></ul><li>P->L at 264: in AD3, MIM: 607822</li></ul><li>G->S at 266: in AD3, MIM: 607822</li></ul><li>P->S at 267: in AD3, MIM: 607822</li></ul><li>P->T at 267: in AD3, MIM: 607822</li></ul><li>R->G at 269: in AD3, MIM: 607822</li></ul><li>R->H at 269: in AD3, MIM: 607822</li></ul><li>L->V at 271: in AD3, MIM: 607822</li></ul><li>R->T at 278: in AD3, MIM: 607822</li></ul><li>E->A at 280: in AD3, MIM: 607822</li></ul><li>E->G at 280: in AD3, MIM: 607822</li></ul><li>L->R at 282: in AD3, MIM: 607822</li></ul><li>A->V at 285: in AD3, MIM: 607822</li></ul><li>L->V at 286: in AD3, MIM: 607822</li><ul><li>L->A,E,P,Q,R,W at 286: Increases production of amyloid beta in APP processing</li><li>L->E,R at 286: Reduces production of NICD in NOTCH1 processing</li></ul><li>S->C at 289: in AD3, MIM: 607822</li></ul><li>E->G at 318: in dbSNP:rs17125721, MIM: 607822</li></ul><li>G->E at 378: in AD3, MIM: 607822</li></ul><li>G->A at 384: in AD3, MIM: 607822</li></ul><li>S->I at 390: in AD3, MIM: 607822</li></ul><li>L->V at 392: in AD3, MIM: 607822</li></ul><li>N->S at 405: in AD3, MIM: 607822</li></ul><li>A->T at 409: in AD3, MIM: 607822</li></ul><li>C->Y at 410: in AD3: in dbSNP rsrs661, MIM: 607822</li></ul><li>A->P at 426: in AD3, MIM: 607822</li></ul><li>A->E at 431: in AD3, MIM: 607822</li></ul><li>P->Q at 436: in AD3: in dbSNP rsrs28930977, MIM: 607822</li></ul><li>P->S at 436: in AD3, MIM: 607822</li></ul>	<li>phosphorylation</li><li>apoptosis</li>	<li>GO:0016310</li><li>GO:0006915</li>	<li>binding</li><li>PKA</li>	<li>GO:0005488</li><li>GO:0004691</li>	cell surface	GO:0009928,GO:0009986	<li>Q60495</li><li>P0A3Z4</li><li>Q28280</li><li>O73683</li><li>P0A3Z2</li><li>P0A3Z3</li><li>P19022</li><li>P49768</li><li>P0A3Z1</li><li>Q28757</li><li>P29216</li><li>P46531</li><li>P34722</li><li>P12023</li><li>Q11207</li><li>P47819</li><li>P53601</li><li>Q29149</li><li>Q5R9X1</li><li>Q9W6T7</li><li>P75313</li><li>P79307</li><li>P08592</li><li>P05067</li><li>Q28748</li><li>Q28053</li><li>P79802</li><li>Q5IS80</li><li>P10288</li><li>P47566</li><li>P13678</li><li>O93279</li><li>P05130</li><li>P13677</li><li>P03995</li><li>P19534</li><li>P14136</li><li>Q28115</li><li>Q95241</li><li>Q8HXW5</li><li>O55075</li>	<li>Frontotemporal dementia [MIM:600274]</li><li>Alzheimer disease type 3 (AD3) [MIM:607822]</li>	<li>rs1042864</li><li>rs28930977</li><li>rs17125721</li><li>rs661</li>	4
P49789	2272	<ul><li>H->N at 35: 50% decrease in catalytic activity. No loss in substrate binding</li><li>H->N at 94: 75% decrease in catalytic activity. No loss in substrate binding</li><li>H->G at 96: Total loss of catalytic activity. Rescuable with free imidazole</li><li>H->N at 96: Total loss of catalytic activity. No loss in substrate binding</li><li>H->N at 98: 99% decrease in catalytic activity. No loss in substrate binding</li><li>Y->F at 114: Loss of phosphorylation by SRC</li><li>Y->F at 145: No affect on phosphorylation by SRC</li></ul>		phosphorylation	GO:0016310	<li>binding</li><li>catalytic activity</li>	<li>GO:0005488</li><li>GO:0003824</li>			<li>P00523</li><li>P12931</li>			1
P49792	5903	<ul><li>V->K at 2632: Abolishes interaction with sumoylated RANGAP1</li><li>I->K at 2634: Abolishes interaction with sumoylated RANGAP1</li><li>V->K at 2635: Abolishes interaction with sumoylated RANGAP1</li><li>P->A at 2640: No effect on SUMO E3 ligase activity</li><li>K->A at 2645: No effect on SUMO E3 ligase activity</li><li>L->A at 2651: Abolishes binding to UBE2I and SUMO E3 ligase activity</li><li>K->A at 2652: No effect on SUMO E3 ligase activity</li><li>L->A at 2653: Abolishes binding to UBE2I and SUMO E3 ligase activity</li><li>P->A at 2654: Impairs SUMO E3 ligase activity</li><li>P->A at 2655: No effect on SUMO E3 ligase activity</li><li>T->A at 2656: Impairs SUMO E3 ligase activity</li><li>F->A at 2657: Abolishes binding to UBE2I and SUMO E3 ligase activity</li><li>F->A at 2658: Abolishes binding to UBE2I and SUMO E3 ligase activity</li><li>C->S,A at 2659: Impairs SUMO E3 ligase activity</li><li>D->A at 2676: Impairs SUMO E3 ligase activity</li><li>F->A at 2677: Impairs SUMO E3 ligase activity</li><li>Y->A at 2689: Impairs SUMO E3 ligase activity</li></ul>	<li>V->L at 548: in dbSNP:rs1057954</li><li>E->K at 580: in dbSNP:rs4012065</li><li>C->Y at 581: in dbSNP:rs1057957</li><li>T->M at 585: associated with ANE1</li><li>T->I at 653: associated with ANE1</li><li>I->V at 656: associated with ANE1</li><li>S->G at 725: in dbSNP:rs17414315</li><li>R->K at 784: in dbSNP:rs2912838</li><li>P->L at 1870: in dbSNP:rs2889846</li><li>P->A at 1892: in dbSNP:rs12770</li><li>P->R at 1892: in dbSNP:rs12770</li>			<li>binding</li><li>ligase activity</li>	<li>GO:0005488</li><li>GO:0016874</li>			<li>Q2EF73</li><li>P63283</li><li>O09181</li><li>P46060</li><li>P63279</li>		<li>rs17414315</li><li>rs4012065</li><li>rs1057954</li><li>rs12770</li><li>rs2912838</li><li>rs1057957</li><li>rs2889846</li>	3
P49795	10287	<ul><li>S->A at 151: Diminishes gap activity towards G(i)-alpha3 and autophagy in colon cancer cells</li></ul>		autophagy	GO:0006914					<li>P08754</li><li>P08753</li><li>Q9DC51</li><li>P38403</li><li>P27045</li><li>Q60397</li>			1
P49802	6000	<ul><li>W->F at 306: Diminishes interaction with Gbeta5</li></ul>								<li>O14775</li><li>Q6PNB6</li><li>P62881</li><li>Q5RDY7</li><li>Q80ZD0</li><li>P62882</li>			1
P49810	5664	<ul><li>D->A at 263: Reduces production of amyloid beta in APP processing</li><li>D->A at 366: Reduces production of amyloid beta in APP processing and of NICD in NOTCH1 processing</li></ul>	<li>R->H at 62: in AD4: in dbSNP rsrs58973334, MIM: 606889</li><li>T->P at 122: in AD4, MIM: 606889</li><li>N->I at 141: in AD4; Volga German patients, MIM: 606889</li><li>V->I at 148: in AD4; LOAD; Spanish patients, MIM: 606889</li><li>M->I at 239: in AD4, MIM: 606889</li><li>M->V at 239: in AD4; Italian patients: in dbSNP rsrs28936379, MIM: 606889</li>							<li>Q60495</li><li>P0A3Z4</li><li>P0A3Z2</li><li>O73683</li><li>Q28280</li><li>P0A3Z3</li><li>P0A3Z1</li><li>Q28757</li><li>P49810</li><li>P29216</li><li>P46531</li><li>Q11207</li><li>P12023</li><li>P53601</li><li>Q29149</li><li>P75313</li><li>P08592</li><li>P79307</li><li>P05067</li><li>Q28748</li><li>Q28053</li><li>Q5IS80</li><li>P47566</li><li>O93279</li><li>Q95241</li>	Alzheimer disease type 4 (AD4) [MIM:606889]	<li>rs58973334</li><li>rs28936379</li>	3
P49841	2932	<ul><li>S->A at 9: Loss of phosphorylation; insensitive to inhibitory phosphorylation</li></ul>		phosphorylation	GO:0016310								1
P49842	8859	<ul><li>K->P at 300: Partial loss of activity</li><li>K->P at 315: Partial loss of activity</li><li>K->P at 317: Complete loss of activity</li></ul>	<li>A->D at 39: in dbSNP:rs34843142</li><li>D->N at 89: in a metastatic melanoma sample; somatic mutation</li><li>S->G at 311: in dbSNP:rs616634</li><li>A->V at 331: in dbSNP rsrs7743647</li>									<li>rs7743647</li><li>rs34843142</li><li>rs616634</li>	3
P49888	6783	<ul><li>S->A at 137: Decreased gradually the catalytic activity</li><li>S->C at 137: Decreased gradually the catalytic activity</li><li>V->E at 269: Does not prevent the formation of homodimer</li></ul>	<li>D->Y at 22: in dbSNP:rs11569705</li>			catalytic activity	GO:0003824					rs11569705	3
P49903	22929	<ul><li>G->C at 268: No change in ATP-binding</li><li>G->R at 270: No change in ATP-binding</li><li>G->A,D,V at 273: Loss of ATP-binding</li><li>H->N at 274: Reduced ATP-binding</li><li>H->Y at 274: Increased ATP-binding</li></ul>				ATP-binding	GO:0005524						1
P50225	6817	<ul><li>C->S at 70: Increased sensitivity of enzyme activity to heat inactivation</li></ul>	<li>R->Q at 37</li><li>E->D at 151: in dbSNP:rs1042014</li><li>R->H at 213: in allele SULT1A1*2; common polymorphism; has a lower activity; dbSNP:rs9282861</li><li>M->V at 223: in dbSNP:rs1801030</li><li>N->T at 235: in dbSNP:rs1059491</li>							<li>P52846</li><li>Q29476</li><li>P50225</li><li>P50227</li>		<li>rs9282861</li><li>rs1801030</li><li>rs1059491</li><li>rs1042014</li>	3
P50402	2010	<ul><li>S->A at 49: Abolishes phosphorylation. No effect on targeting to nuclear envelope nor on interaction with LMNA</li><li>S->E at 49: Mimics phosphorylation. No effect on targeting to nuclear envelope nor on interaction with LMNA</li></ul>	<li>S->F at 54: in X-EDMD, MIM: 310300</li><li>Q->H at 133: in X-EDMD, MIM: 310300</li><li>D->H at 149: in dbSNP:rs2070818, MIM: 310300</li><li>P->H at 183: in X-EDMD, MIM: 310300</li><li>P->T at 183: in X-EDMD, MIM: 310300</li>	phosphorylation	GO:0016310			nuclear envelope	GO:0005635	<li>P02545</li><li>Q3ZD69</li><li>P13648</li><li>P50402</li>	X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) [MIM:310300]	rs2070818	3
P50542	5830	<ul><li>W->A at 118: Strongly reduced interaction with PEX14</li><li>F->A at 122: Strongly reduced interaction with PEX14</li></ul>	<li>N->K at 526: in NALD; strongly affects peroxisomal protein import, MIM: 202370</li><li>S->W at 600: in IRD; mildly affects peroxisomal protein import, MIM: 266510</li>	protein import	GO:0017038					<li>P78723</li><li>Q9HG09</li><li>P53112</li><li>O75381</li>	<li>Infantile Refsum disease (IRD) [MIM:266510]</li><li>Adrenoleukodystrophy neonatal (NALD) [MIM:202370]</li>		3
P50548	2077	<ul><li>T->A at 526: Loss of a phosphorylation site</li></ul>	<li>R->H at 205: in dbSNP:rs1053655</li>	phosphorylation	GO:0016310							rs1053655	3
P50552	7408	<ul><li>F->A at 370: Lower stability of tetramerization domain</li><li>F->I,K at 370: No change in stability of tetramerization domain</li></ul>	<li>A->T at 104: in dbSNP:rs10415373</li><li>Q->H at 140: in dbSNP:rs34345197</li>									<li>rs34345197</li><li>rs10415373</li>	3
P50613	1022	<ul><li>K->A at 41: Total loss of activity</li><li>S->A at 164: No mitotic repression of transcriptional activity of the reconstituted TFIIH complex</li><li>T->A at 170: Total loss of activity. Total loss of transcriptional activity of the reconstituted TFIIH complex</li></ul>	<li>G->A at 163</li><li>T->M at 285: in dbSNP:rs34584424</li>									rs34584424	3
P50750	1025	<ul><li>D->N at 167: Abrogates kinase activity</li><li>T->A at 186: Abrogates autophosphorylation; no effect on kinase activity</li></ul>	<li>F->L at 59: in dbSNP rsrs55640715</li><li>G->A at 231</li>	autophosphorylation	GO:0046777	kinase activity	GO:0016301					rs55640715	3
P51149	7879	<ul><li>L->A at 8: Abolishes interaction with RAB7 and reduces its localization to late endosomal/lysosomal compartments</li><li>K->A at 10: Abolishes interaction with RAB7 and localization to late endosomal/lysosomal compartments</li><li>T->N at 22: Abolishes localization on late endosomes, lysosomes and phagosomes and reduces phagosomal fusions. Abolishes association of RILP with the phagosomes</li><li>Q->L at 67: Does not abolish localization on late endosomes, lysosomes and phagosomes and does not reduce phagosomal fusions</li><li>V->A at 180: Abolishes interaction with RAB7 and localization to late endosomal/lysosomal compartments</li><li>L->A at 182: Does not abolish interaction with RAB7 and localization to late endosomal/lysosomal compartments. Does not abolish interaction with RAB7 and localization to late endosomal/lysosomal compartments; when associated with A-183</li><li>Y->A at 183: Does not abolish interaction with RAB7 and localization to late endosomal/lysosomal compartments. Does not abolish interaction with RAB7 and localization to late endosomal/lysosomal compartments; when associated with A-182</li></ul>	<li>K->E at 32: in dbSNP:rs11549759</li><li>L->F at 129: in CMT2B, MIM: 600882</li><li>K->N at 157: in CMT2B, MIM: 600882</li><li>N->T at 161: in CMT2B, MIM: 600882</li><li>V->M at 162: in CMT2B, MIM: 600882</li>	localization	GO:0051179			<li>phagosomes</li><li>late endosomes</li><li>lysosomes</li>	<li>GO:0045335</li><li>GO:0005770</li><li>GO:0005764</li>	<li>Q3T0F5</li><li>O04157</li><li>Q96MT3</li><li>Q96NA2</li><li>O97572</li><li>P18067</li><li>P51149</li><li>Q9XER8</li><li>Q5R9Y4</li>	Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	rs11549759	3
P51572	10134	<ul><li>D->A at 164: Abolishes cleavage by caspases, inhibits apoptotic membrane blebbing and release of cytochrome c from mitochondria; when associated with A-238</li><li>D->A at 238: Abolishes cleavage by caspases, inhibits apoptotic membrane blebbing and release of cytochrome c from mitochondria; when associated with A-164</li></ul>						membrane	GO:0016020	<li>P00073</li><li>P00074</li><li>P00075</li><li>P00076</li><li>P00070</li><li>P00071</li><li>P00072</li><li>Q6C9Q0</li><li>P00067</li><li>P00066</li><li>P00069</li><li>P68100</li><li>P00068</li><li>P00064</li><li>P00065</li><li>P00062</li><li>P00063</li><li>P00060</li><li>P00061</li><li>P67881</li><li>P67882</li><li>Q6WUX8</li><li>P15451</li><li>Q6QLW4</li><li>P19681</li><li>P00059</li><li>P00058</li><li>P68517</li><li>P00057</li><li>P68518</li><li>P00056</li><li>P00055</li><li>P68519</li><li>P62773</li><li>P62772</li><li>Q7YR71</li><li>Q4HVX7</li><li>P00008</li><li>P32556</li><li>P00007</li><li>P00004</li><li>P00003</li><li>P00002</li><li>Q640U4</li><li>Q753F4</li><li>P99999</li><li>P99998</li><li>Q52V08</li><li>Q52V09</li><li>P00079</li><li>P00078</li><li>P00077</li><li>O13393</li><li>P81459</li><li>P00030</li><li>Q5RFH4</li><li>P00032</li><li>P00031</li><li>Q52V10</li><li>O93863</li><li>P00027</li><li>P00028</li><li>P12831</li><li>P00029</li><li>P68096</li><li>P00022</li><li>P68097</li><li>P68098</li><li>P00024</li><li>P62896</li><li>P68099</li><li>P81280</li><li>P00025</li><li>P62895</li><li>P62894</li><li>Q6Q4H8</li><li>P18822</li><li>P00021</li><li>P00020</li><li>P00017</li><li>P38091</li><li>P00018</li><li>P00013</li><li>P00014</li><li>P00011</li><li>O07091</li><li>P00012</li><li>P53698</li><li>P00019</li><li>O22642</li><li>P25400</li><li>P22342</li><li>P00052</li><li>P00051</li><li>P00054</li><li>P00053</li><li>P00046</li><li>P00047</li><li>Q96VP3</li><li>P00048</li><li>P00049</li><li>Q41346</li><li>P19974</li><li>P56205</li><li>P21665</li><li>P00043</li><li>P00042</li><li>P00041</li><li>P00040</li><li>Q6IQM2</li><li>P00035</li><li>P00036</li><li>P00039</li><li>P29380</li><li>P00037</li><li>P00038</li><li>P59218</li>			1
P51582	5030	<ul><li>S->A at 243: No effect</li><li>Missing at 333-365: Abolishes agonist-induced phosphorylation. Prevents agonist-induced desensitization and loss of cell surface receptors</li><li>SSLALVSLPEDSSCR at 333-359: Greatly reduces agonist-induced desensitization and loss of cell surface receptors</li><li>S->A at 333: Greatly reduces agonist-induced desensitization and loss of cell surface receptors; when associated with A-334 and A-339</li><li>S->A at 334: Greatly reduces agonist-induced desensitization and loss of cell surface receptors; when associated with A-333 and A-339</li><li>S->A at 339: Greatly reduces agonist-induced desensitization and loss of cell surface receptors; when associated with A-333 and A-334</li><li>Missing at 344-365: No effect on agonist-induced phosphorylation, no functional effect</li><li>Missing at 356-365: No functional effect</li></ul>	<li>V->M at 168: in dbSNP:rs1152186</li><li>N->T at 178: in dbSNP:rs1152187</li><li>P->L at 191: in dbSNP:rs1152188</li><li>S->A at 234: in dbSNP:rs3829709</li>	phosphorylation	GO:0016310			cell surface	GO:0009928,GO:0009986			<li>rs1152187</li><li>rs1152188</li><li>rs1152186</li><li>rs3829709</li>	3
P51610	3054	<ul><li>P->S at 30: Severely reduces VP16-induced complex (VIC) formation, but retains association with VP16. Unable to rescue proliferation in temperature-sensitive arrested cells</li><li>P->S at 79: Severely reduces VIC formation, but retains association with VP16. Severely reduces association with CREB3. Unable to rescue proliferation in temperature-sensitive arrested cells</li><li>C->D at 82: Moderately reduces VIC formation and association with VP16 and CREB3. Unable to rescue proliferation in temperature-sensitive arrested cells</li><li>K->D at 105: Minor reduction in VIC formation and association with VP16 and CREB3. Able to rescue proliferation in temperature-sensitive arrested cells</li><li>P->S at 134: Eliminates VIC formation and association with VP16. Weak association with POU2F1. Unable to associate with CREBZF. Unable to rescue proliferation in temperature-sensitive arrested cells</li><li>R->D at 137: Eliminates VIC formation. Unable to rescue proliferation in temperature-sensitive arrested cells</li><li>P->S at 197: Eliminates VIC formation and association with VP16. Unable to rescue proliferation in temperature-sensitive arrested cells</li><li>R->D at 200: Eliminates VIC formation. Unable to rescue proliferation in temperature-sensitive arrested cells</li><li>R->D at 228: Eliminates VIC formation and association with VP16. Unable to rescue proliferation in temperature-sensitive arrested cells</li><li>P->S at 252: Minor reduction in VIC formation, but retains association with VP16. Unable to rescue proliferation in temperature-sensitive arrested cells</li><li>R->D at 255: Eliminates VIC formation. Unable to rescue proliferation in temperature-sensitive arrested cells</li><li>EWK->AAA at 289-291: Minor reduction in VIC formation and association with VP16. Weak association with POU2F1. Severely reduces association with CREB3. Able to rescue proliferation in temperature-sensitive arrested cells</li><li>P->S at 319: Eliminates VIC formation and association with VP16. Unable to rescue proliferation in temperature-sensitive arrested cells</li><li>R->D at 322: Eliminates VIC formation. Unable to rescue proliferation in temperature-sensitive arrested cells</li><li>S->A at 338: Moderately reduces association with VP16 and CREB3. Able to rescue proliferation in temperature-sensitive arrested cells</li><li>RK->AA at 344-345: Eliminates VIC formation, but only minor reduction in association with VP16. Unable to associate with POU2F1, but only minor reduction in association with CREB3. Able to rescue proliferation in temperature-sensitive arrested cells</li><li>PCETH->AAAAA at 1017-1021: Reduces and disrupts cleavage at HCF repeat</li><li>V->A at 1072: No effect on cleavage at HCF repeat</li><li>R->A at 1073: No effect on cleavage at HCF repeat</li><li>V->A at 1074: No effect on cleavage at HCF repeat</li><li>C->A at 1075: No effect on cleavage at HCF repeat</li><li>S->A at 1076: No effect on cleavage at HCF repeat</li><li>N->A at 1077: No effect on cleavage at HCF repeat</li><li>P->A at 1078: Inactivates cleavage at HCF repeat</li><li>PCETH->AAAAA at 1079-1083: Reduces and disrupts cleavage at HCF repeat</li><li>P->A at 1079: Inactivates cleavage at HCF repeat</li><li>C->A at 1080: Inactivates cleavage at HCF repeat</li><li>E->A at 1081: Inactivates cleavage at HCF repeat</li><li>E->D at 1081: Inactivates cleavage at HCF repeat</li><li>T->A at 1082: Inactivates cleavage at HCF repeat</li><li>T->F at 1082: Reduces cleavage at HCF repeat</li><li>T->S at 1082: Reduces cleavage at HCF repeat</li><li>H->A at 1083: Reduces cleavage at HCF repeat</li><li>E->A at 1084: No effect on cleavage at HCF repeat</li><li>T->A at 1085: Inactivates cleavage at HCF repeat</li><li>G->A at 1086: No effect on cleavage at HCF repeat</li><li>T->A at 1087: Inactivates cleavage at HCF repeat</li><li>T->A at 1088: Inactivates cleavage at HCF repeat</li><li>N->A at 1089: Reduces cleavage at HCF repeat</li><li>T->A at 1090: Inactivates cleavage at HCF repeat</li><li>T->A at 1092: Inactivates cleavage at HCF repeat</li><li>T->A at 1093: Inactivates cleavage at HCF repeat</li><li>T->A at 1095: Reduces cleavage at HCF repeat</li><li>S->A at 1096: No effect on cleavage at HCF repeat</li><li>N->A at 1097: No effect on cleavage at HCF repeat</li></ul>	<li>S->P at 1164: in dbSNP:rs1051152</li><li>S->I at 2004: in dbSNP:rs6643651</li>							<li>Q43358</li><li>Q29076</li><li>P14859</li><li>P22389</li><li>P51611</li><li>P51610</li><li>P68335</li><li>Q8SQ19</li><li>Q28466</li><li>P68336</li><li>P23943</li><li>O43889</li><li>P15143</li><li>Q9NFL5</li><li>Q61191</li>		<li>rs6643651</li><li>rs1051152</li>	3
P51617	3654	<ul><li>K->S at 239: Loss of kinase activity</li></ul>	<li>R->H at 194: in dbSNP:rs11465830</li><li>F->S at 196: in dbSNP:rs1059702</li><li>C->S at 203: in dbSNP:rs10127175</li><li>T->M at 398: in dbSNP rsrs56340948</li><li>V->M at 412: in a glioblastoma multiforme sample; somatic mutation</li><li>Q->H at 421: in a breast pleomorphic lobular carcinoma sample; somatic mutation</li><li>S->L at 532: in dbSNP:rs1059703</li><li>G->S at 619: in dbSNP rsrs34112487</li><li>T->M at 625: in dbSNP rsrs35638718</li><li>R->W at 638: in dbSNP rsrs56082801</li><li>S->G at 690: in a lung adenocarcinoma sample; somatic mutation</li>			kinase activity	GO:0016301					<li>rs56340948</li><li>rs1059702</li><li>rs1059703</li><li>rs56082801</li><li>rs34112487</li><li>rs10127175</li><li>rs11465830</li><li>rs35638718</li>	3
P51681	1234	<ul><li>Y->D at 3: No sulfation and greatly decreased binding CCL4 and CCL5; when associated with D-10; D-14 and D-15. Restored most CCL4 binding; when associated with D-10 and D-15</li><li>Y->F at 3: No sulfation and greatly decreases binding of CCL4 and CCL5; when associated with F-10; F-14 and F-15</li><li>S->A at 6: No change in glycosylation status and greatly decreased CCL4 binding. Loss of molecular mass of about 2 kDa as compared to wild type. Dramatically reduced binding of CCL4; when associated with A-7; A-16; A-17. Similar molecular mass loss. Dramatically reduced binding of CCL4; when associated with A-7 only</li><li>S->A at 7: No change in glycosylation status and binds CCL4 as efficiently as wild type. Loss of molecular mass of about 2 kDa as compared to wild type. Dramatically reduced binding of CCL4; when associated with A-6; A-16; A-17. Similar molecular mass loss. Dramatically reduced binding of CCL4; when associated with A-6 only</li><li>Y->F at 10: No sulfation and greatly decreases binding of CCL4 and CCL5; when associated with F-3; F-14 and F-15. Small loss of sulfation; when associated with F-14 and F-15</li><li>Y->D at 14: No sulfation and greatly decreased binding CCL4 and CCL5; when associated with D-3; D-10 and D-14. No restoration of CCL4 binding; when associated with D-10 and D-15</li><li>Y->F at 14: No sulfation and greatly decreases binding of CCL4 and CCL5; when associated with F-3; F-10; and F-15. Small loss of sulfation; when associated with F-10 and F-15</li><li>Y->D at 15: No sulfation and greatly decreased binding CCL4 and CCL5; when associated with D-3; D-10 and D-14. Restored most CCL4 binding; when associated with D-3 and D-10</li><li>Y->F at 15: No sulfation and greatly decreases binding of CCL4 and CCL5; when associated with F-3; F-10 and F-14. Small loss of sulfation; when associated with F-10 and F-14</li><li>T->A at 16: Similar decrease in molecular mass when treated with O-glycosidase as for wild type; when associated with A-17</li><li>S->A at 17: Similar decrease in molecular mass when treated with O-glycosidase as for wild type; when associated with A-16</li><li>C->A at 321: Small reduction in palmitoylation. Cell surface expression reduced by 50%. Greatly reduced palmitoylation. Cell surface expression greatly reduced; when associated with A-323 or A-324. No palmitoylation. Cell surface expression greatly reduced. HIV entry reduced by 50%; when associated with A-323 and A-324</li><li>C->A at 323: Small reduction in palmitoylation. Cell surface expression reduced by 50%. Greatly reduced palmitoylation. Cell surface expression greatly reduced; when associated with A-321 or A-324. No palmitoylation. Cell surface expression greatly reduced. HIV entry reduced by 50%; when associated with A-321 and A-324</li><li>C->A at 324: Small reduction in palmitoylation. Cell surface expression reduced by 50%. Greatly reduced palmitoylation. Cell surface expression greatly reduced; when associated with A-321 or A-323. No palmitoylation. Cell surface expression greatly reduced. HIV entry reduced by 50%; when associated with A-321 and A-323</li><li>S->A at 336: APO-RANTES-stimulated phosphorylation reduced by 15%; APO-RANTES-stimulated phosphorylation reduced by 30-50%; when associated with A-337 or A-342 or A-349; APO-RANTES-stimulated phosphorylation reduced by 80%; when associated with A-337 and A-342 or A-349; No APO-RANTES-stimulated phosphorylation; when associated with A-337; A-342 and A349</li><li>S->A at 337: APO-RANTES-stimulated phosphorylation reduced by 18%; APO-RANTES-stimulated phosphorylation reduced by 30-50% on APO-RANTES stimulation; when associated with A-336 or A-342 or A-349; APO-RANTES-stimulated phosphorylation reduced by 80%; when associated with A-336 and A-342 or A-349; No APO-RANTES-stimulated phosphorylation; when associated with A-336; A-342 and A349</li><li>S->A at 342: APO-RANTES-stimulated phosphorylation reduced by 42%. Phosphorylation reduced by 50% on APO-RANTES stimulation; when associated with A-336 or A-337 or A-349; APO-RANTES-stimulated phosphorylation reduced by 80% when associated with A-336 and A-337 or A-349; No APO-RANTES-stimulated phosphorylation; when associated with A-336; A-337 and A349</li><li>S->A at 349: APO-RANTES-stimulated phosphorylation reduced by 43%; APO-RANTES-stimulated phosphorylation reduced by 30-50%; when associated with A-336 or A-337 or A-342; APO-RANTES-stimulated phosphorylation reduced by 80%; when associated with A-336 and A-337 or A-342; No APO-RANTES-stimulated phosphorylation stimulation; when associated with A-336; A-337 and A347</li></ul>	<li>Y->D at 10: in INCCR5-71A) </li><ul><li>Y->F at 10: No sulfation and greatly decreases binding of CCL4 and CCL5; when associated with F-3; F-14 and F-15. Small loss of sulfation; when associated with F-14 and F-15</li></ul><li>I->L at 12</li></ul><li>C->S at 20</li></ul><li>A->S at 29: in dbSNP:rs1800939</li></ul><li>R->H at 31: in INCCR5-72A: in dbSNP rsrs56340326</li></ul><li>P->L at 34: in TZCCR5-179</li></ul><li>I->F at 42</li></ul><li>L->Q at 55: in dbSNP:rs1799863</li></ul><li>R->S at 60: associated with susceptibility to HIV-1; reduced surface expression and function of CCR5 protein; dbSNP:rs1800940</li></ul><li>K->R at 62: in UGCCR5-145B</li></ul><li>Y->H at 68: in ZWCCR5-7</li></ul><li>A->V at 73: in dbSNP rsrs56198941</li></ul><li>D->N at 95: in MWCCR5-107</li></ul><li>G->E at 97: in INCCR5-467</li></ul><li>L->P at 122: in ZWCCR5-7</li></ul><li>F->S at 158: in UGCCR5-145A</li></ul><li>Y->C at 176: in KECCR5-116</li></ul><li>T->A at 177: in INCCR5-45C</li></ul><li>C->R at 178: found in a HIV-resistant individiual</li></ul><li>S->N at 185: in UGCCR5-145A</li></ul><li>M->V at 210: in ZWCCR5-7</li></ul><li>Y->C at 214: in KECCR5-3B</li></ul><li>S->L at 215</li></ul><li>R->Q at 223: in dbSNP:rs1800452</li></ul><li>Missing at 228</li></ul><li>T->S at 239: in INCCR5-71A</li></ul><li>L->P at 246: in UGCCR5-145A</li></ul><li>T->M at 288: in INCCR5-72A</li></ul><li>G->V at 301: in dbSNP:rs1800943</li></ul><li>E->G at 302: in TZCCR5-179</li></ul><li>K->E at 303: in THCCR5-5</li></ul><li>N->S at 306: in MWCCR5-1567</li></ul><li>K->R at 322: in THCCR5-5</li></ul><li>E->G at 333: in THCCR5-2</li></ul><li>A->V at 335: in MWCCR5-1567, MWCCR5-1568, ZWCCR5-14 and ZWCCR5-112; dbSNP:rs1800944</li></ul><li>Y->F at 339: in TZCCR5-181A and MWCCR5-107; dbSNP:rs1800945</li></ul><li>E->G at 345: in UGCCR5-145C</li></ul>	phosphorylation	GO:0016310	binding	GO:0005488	Cell surface	GO:0009928,GO:0009986	<li>Q2HJ17</li><li>O97975</li><li>Q71UI8</li><li>Q90826</li><li>P56493</li><li>Q8BXQ6</li><li>O97882</li><li>O97881</li><li>O97883</li><li>Q95ND2</li><li>Q95ND1</li><li>O97880</li><li>Q95ND0</li><li>Q9BGN6</li><li>P69527</li><li>P60574</li><li>P13501</li><li>Q8N6M6</li><li>Q95NC2</li><li>Q95NC3</li><li>Q95NC4</li><li>Q8MKD0</li><li>Q95NC5</li><li>Q95NC6</li><li>Q95NC7</li><li>Q95NC8</li><li>P97272</li><li>P56440</li><li>Q95NC9</li><li>P50231</li><li>P50230</li><li>Q6WN98</li><li>Q95NC1</li><li>Q95NC0</li><li>O62743</li><li>P56439</li><li>O97879</li><li>Q8HYQ1</li><li>O97878</li><li>P68270</li><li>P61813</li><li>P61815</li><li>P61814</li><li>Q29288</li><li>P68269</li><li>Q8HZT9</li><li>Q9TV43</li><li>Q9TV42</li><li>Q9TV45</li><li>O97962</li><li>Q9TV47</li><li>Q9XT76</li><li>Q9TV49</li><li>P46632</li><li>Q9TV48</li><li>Q1ZY22</li><li>P13236</li><li>O97919</li><li>Q91ZL1</li><li>Q95NE8</li><li>Q5ECR9</li><li>P61755</li><li>P51681</li><li>P61756</li><li>P61757</li><li>Q8SQ40</li><li>P14097</li><li>Q8HYS0</li><li>P30882</li>		<li>rs1800944</li><li>rs1800939</li><li>rs1800943</li><li>rs1800945</li><li>rs1800452</li><li>rs56198941</li><li>rs1800940</li><li>rs56340326</li><li>rs1799863</li>	4
P51787	3784	<ul><li>G->M at 589: No effect</li><li>A->W at 590: Reduced cell surface expression and strongly reduced potassium current</li><li>N->G at 593: Reduced cell surface expression and moderately reduced potassium current</li></ul>	<li>Missing  at 71-73: in LQT1</li><li>Y->C at 111: in LQT1, MIM: 192500</li><li>S->G at 140: in ATFB3; gain of function, MIM: 607554</li><li>F->C at 157: in LQT1, MIM: 192500</li><li>E->K at 160: in LQT1, MIM: 192500</li><li>FG->W at 167-168: in LQT1, MIM: 192500</li><li>G->R at 168: in LQT1; dbSNP:rs179489, MIM: 192500</li><li>R->C at 174: in LQT1, MIM: 192500</li><li>R->H at 174: in LQT1, MIM: 192500</li><li>A->P at 178: in LQT1; loss of channel activity, MIM: 192500</li><li>A->T at 178: in LQT1, MIM: 192500</li><li>G->S at 179: in LQT1, MIM: 192500</li><li>Y->S at 184: in LQT1, MIM: 192500</li><li>G->R at 189: in LQT1; familial sudden death, MIM: 192500</li><li>R->Q at 190: in LQT1; loss of channel activity, MIM: 192500</li><li>A->P at 194: in LQT1, MIM: 192500</li><li>G->R at 216: in LQT1, MIM: 192500</li><li>S->L at 225: in LQT1, MIM: 192500</li><li>D->N at 242: in LQT1, MIM: 192500</li><li>R->C at 243: in LQT1; slower rate of activation and voltage dependence of activation-inactivation shifted to more positive potentials , MIM: 192500</li><li>R->H at 243: in JLNS1; minor changes of wt current , MIM: 220400</li><li>W->R at 248: in LQT1; slower rate of activation and voltage dependence of activation-inactivation shifted to more positive potentials , MIM: 192500</li><li>L->H at 250: in LQT1, MIM: 192500</li><li>V->M at 254: in LQT1; associated with M-417 in a patient, MIM: 192500</li><li>E->D at 261: in JLNS1, MIM: 220400</li><li>E->K at 261: in LQT1; loss of channel activity and no interaction with wt KVLQT1 or MINK subunits, MIM: 192500</li><li>L->P at 266: in LQT1, MIM: 192500</li><li>G->D at 269: in LQT1, MIM: 192500</li><li>G->S at 269: in LQT1, MIM: 192500</li><li>L->F at 273: in LQT1; functional channel with reduced macroscopic conductance , MIM: 192500</li><li>Y->C at 281: in LQT1, MIM: 192500</li><li>A->T at 300: in LQT1, MIM: 192500</li><li>W->S at 305: in JLNS1, MIM: 220400</li><li>G->R at 306: in LQT1, MIM: 192500</li><li>V->L at 307: in SQT2; gain of function, MIM: 609621</li><li>T->R at 309: in LQT1, MIM: 192500</li><li>V->I at 310: in LQT1, MIM: 192500</li><li>T->I at 311: in LQT1, MIM: 192500</li><li>T->I at 312: in LQT1; loss of channel activity, MIM: 192500</li><li>I->M at 313: in LQT1, MIM: 192500</li><li>G->S at 314: in LQT1, MIM: 192500</li><li>Y->C at 315: in LQT1, MIM: 192500</li><li>Y->S at 315: in LQT1, MIM: 192500</li><li>D->N at 317: in LQT1, MIM: 192500</li><li>K->N at 318: in LQT1, MIM: 192500</li><li>P->A at 320: in LQT1, MIM: 192500</li><li>G->R at 325: in LQT1, MIM: 192500</li><li>Missing  at 339: in LQT1, MIM: 192500</li><li>A->E at 341: in LQT1; dbSNP:rs12720459, MIM: 192500</li><li>A->V at 341: in LQT1: in dbSNP rsrs12720459, MIM: 192500</li><li>L->F at 342: in LQT1, MIM: 192500</li><li>A->V at 344: in LQT1, MIM: 192500</li><li>G->E at 345: in LQT1, MIM: 192500</li><li>G->R at 345: in LQT1; familial sudden death, MIM: 192500</li><li>S->W at 349: in LQT1, MIM: 192500</li><li>L->P at 353: in LQT1, MIM: 192500</li><li>K->R at 362: in dbSNP:rs12720458, MIM: 192500</li><li>R->P at 366: in LQT1, MIM: 192500</li><li>R->Q at 366: in LQT1, MIM: 192500</li><li>R->W at 366: in LQT1, MIM: 192500</li><li>A->T at 371: in LQT1, MIM: 192500</li><li>S->P at 373: in LQT1, MIM: 192500</li><li>T->I at 391: in LQT1, MIM: 192500</li><li>W->R at 392: in LQT1, MIM: 192500</li><li>K->N at 393: in dbSNP:rs12720457, MIM: 192500</li><li>V->M at 417: in LQT1; associated with M-254 in a patient, MIM: 192500</li><li>P->R at 448: in LQT1, MIM: 192500</li><li>A->T at 525: in LQT1, MIM: 192500</li><li>R->W at 533: in LQT1; minor changes of wt current , MIM: 192500</li><li>R->W at 539: in LQT1; minor changes of wt current , MIM: 192500</li><li>R->C at 555: in LQT1; associated with a fruste phenotype, MIM: 192500</li><li>S->F at 566: in LQT1, MIM: 192500</li><li>R->C at 583: in LQT1; dbSNP:rs17221854, MIM: 192500</li><li>T->M at 587: in LQT1, MIM: 192500</li><li>G->D at 589: in LQT1; reduced cell surface expression and strongly reduced potassium current, MIM: 192500</li><ul><li>G->M at 589: No effect</li></ul><li>R->H at 591: in LQT1, MIM: 192500</li></ul><li>R->Q at 594: in LQT1, MIM: 192500</li></ul><li>G->S at 643: in dbSNP:rs1800172, MIM: 192500</li></ul>	death	GO:0016265			cell surface	GO:0009928,GO:0009986	<li>Q9MYS6</li><li>P51787</li><li>O97531</li><li>Q8N4C8</li><li>O70344</li><li>Q9TTJ7</li>	<li>Long QT syndrome type 1 (LQT1) [MIM:192500]</li><li>Jervell and Lange-Nielsen syndrome type 1 (JLNS1) [MIM:220400]</li><li>Atrial fibrillation type 3 (ATFB3) [MIM:607554]</li><li>Short QT syndrome type 2 (SQT2) [MIM:609621]</li>	<li>rs1800172</li><li>rs17221854</li><li>rs179489</li><li>rs12720457</li><li>rs12720459</li><li>rs12720458</li>	4
P51790	1182	<ul><li>G->E at 280: Changes channel selectivity from I(-)>Cl(-) to Cl(-)>I(-)</li></ul>											1
P51795	1184	<ul><li>Y->A at 672: Abolishes interaction with NEDD4 and NEDD4L</li></ul>	<li>R->RH at 30: in NPHL2</li><li>G->V at 57: in NPHL2, MIM: 300009</li><li>M->I at 142: in dbSNP:rs34800648, MIM: 300009</li><li>L->R at 200: in NPHL2, MIM: 300009</li><li>S->L at 244: in XLRH, MIM: 300554</li><li>R->P at 280: in LMWPHN; 70% reduction in channel activity, MIM: 308990</li><li>G->E at 506: in NPHL1, MIM: 310468</li><li>G->R at 512: in NPHL2; abolishes the chloride currents, MIM: 300009</li><li>S->P at 520: in NPHL2, MIM: 300009</li><li>E->D at 527: in NPHL2; abolishes the chloride currents; total loss of function, MIM: 300009</li>							<li>Q5RBF2</li><li>Q96PU5</li><li>P46934</li>	<li>Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM:308990]</li><li>Nephrolithiasis type 1 (NPHL1) [MIM:310468]</li><li>Hypophosphatemic rickets X-linked recessive (XLRH) [MIM:300554]</li><li>Nephrolithiasis type 2 (NPHL2) [MIM:300009]</li>	rs34800648	3
P51811	7504	<ul><li>C->S at 347: Loss of Kell-XK complex</li></ul>	<li>R->G at 222: in MLS, MIM: 314850</li><li>C->R at 294: in MLS: in dbSNP rsrs28933690, MIM: 314850</li><li>E->K at 327: in MLS; atypical without hematologic, neuromuscular, or cerebral involvement; protein seems functional, MIM: 314850</li>							Q43827	McLeod syndrome (MLS) [MIM:314850]	rs28933690	3
P51843	190	<ul><li>ML->AA at 16-17: Strongly reduces homodimodimerization and interaction with NR0B2</li><li>ML->AA at 83-84: Strongly reduces homodimodimerization and interaction with NR0B2</li><li>LL->AA at 149-150: Strongly reduces homodimodimerization and interaction with NR0B2</li><li>MM->AA at 461-462: Strongly reduces homodimodimerization and interaction with NR0B2</li></ul>	<li>R->P at 267: in AHC; impairs transcriptional silencing of the StAR promoter, MIM: 300200</li><li>Missing  at 269: in AHC; impairs transcriptional silencing of the StAR promoter, MIM: 300200</li><li>L->P at 278: in AHC, MIM: 300200</li><li>V->G at 287: in AHC; the patient presents an inappropriate tall stature and renal ectopy, MIM: 300200</li><li>W->C at 291: in AHC; dbSNP:rs28935482, MIM: 300200</li><li>L->P at 295: in AHC, MIM: 300200</li><li>L->P at 297: in AHC; results in a severe loss of repressor activity, MIM: 300200</li><li>A->P at 300: in AHC, MIM: 300200</li><li>A->V at 300: in AHC, MIM: 300200</li><li>E->K at 377: in AHC, MIM: 300200</li><li>Y->D at 380: in AHC, MIM: 300200</li><li>L->H at 381: in AHC, MIM: 300200</li><li>K->N at 382: in AHC: in dbSNP rsrs28935180, MIM: 300200</li><li>V->G at 385: in AHC, MIM: 300200</li><li>R->G at 425: in AHC, MIM: 300200</li><li>R->T at 425: in AHC, MIM: 300200</li><li>I->S at 439: in AHC; mild phenotype, MIM: 300200</li><li>N->I at 440: in AHC; impairs RNA-binding activity; dbSNP:rs28935481, MIM: 300200</li><li>L->R at 466: in AHC, MIM: 300200</li>			RNA-binding	GO:0003723			<li>Q15466</li><li>Q28918</li><li>Q28996</li><li>P79245</li><li>Q9DEB4</li><li>Q9DG10</li><li>Q9DG09</li><li>P51557</li><li>P70114</li><li>P97826</li><li>Q9DG08</li><li>P49675</li><li>O46689</li><li>P58864</li><li>P51843</li><li>Q9DE06</li>	X-linked adrenal hypoplasia congenital (AHC) [MIM:300200]	<li>rs28935180</li><li>rs28935481</li><li>rs28935482</li>	3
P51857	6718	<ul><li>Y->A at 58: Loss of activity</li><li>E->A at 120: Loss of activity</li></ul>	<li>L->F at 106: in CBAS2, MIM: 235555</li><li>P->R at 133: in CBAS2, MIM: 235555</li><li>P->L at 198: in CBAS2, MIM: 235555</li><li>R->C at 261: in CBAS2, MIM: 235555</li>								Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]		3
P51946	902	<ul><li>S->A at 5: No effect on the transcriptional activity of the reconstituted TFIIH complex</li><li>S->A at 304: No effect on the transcriptional activity of the reconstituted TFIIH complex</li></ul>	<li>R->L at 28: in dbSNP:rs2234942</li><li>M->V at 54: in dbSNP:rs3093785</li><li>K->R at 138: in dbSNP:rs2266691</li><li>V->A at 270: in dbSNP:rs2230641</li>									<li>rs2230641</li><li>rs3093785</li><li>rs2266691</li><li>rs2234942</li>	3
P51955	4751	<ul><li>K->R at 37: Loss of kinase activity and of ability to activate NEK11</li><li>D->A at 141: Loss of autophosphorylation</li><li>T->A at 170: No effect on kinase activity</li><li>T->E at 170: Kinase activity increased by two fold</li><li>S->A at 171: No effect on kinase activity</li><li>S->D at 171: Kinase activity increased by two fold</li><li>T->A at 175: Kinase activity decreased by two fold</li><li>T->E at 175: Kinase activity increased by two fold</li><li>T->A at 179: Loss of kinase activity</li><li>T->E at 179: Loss of kinase activity</li><li>S->A at 241: Loss of kinase activity</li><li>S->D at 241: Loss of kinase activity</li></ul>	<li>N->S at 354: in dbSNP:rs2230489</li><li>C->Y at 410: in dbSNP rsrs56102977</li>	autophosphorylation	GO:0046777	kinase activity	GO:0016301			<li>Q8NG66</li><li>Q8WNU8</li>		<li>rs2230489</li><li>rs56102977</li>	3
P52564	5608	<ul><li>S->A at 207: Inactivation</li><li>S->E at 207: Constitutive activation according to PubMed</li><li>T->A at 211: Inactivation</li><li>T->E at 211: Constitutive activation according to PubMed</li></ul>											1
P52630	6773	<ul><li>R->A at 374: Prevents the nuclear import; when associated with A-375</li><li>K->A at 375: Prevents the nuclear import; when associated with A-374</li><li>R->A at 409: Prevents the nuclear import; when associated with A-415</li><li>K->A at 415: Prevents the nuclear import; when associated with A-409</li></ul>	<li>Q->H at 66: in dbSNP:rs2066816</li><li>L->P at 220: in dbSNP:rs2066817</li><li>C->S at 246: in dbSNP:rs2228259</li><li>T->M at 448: in dbSNP:rs2066815</li><li>I->V at 464: in dbSNP:rs2066811</li><li>S->I at 501: in dbSNP:rs2066809</li><li>M->I at 594: in dbSNP:rs2066807</li><li>Q->H at 826: in dbSNP:rs2229363</li>	nuclear import	GO:0051170							<li>rs2066807</li><li>rs2066809</li><li>rs2229363</li><li>rs2066811</li><li>rs2228259</li><li>rs2066815</li><li>rs2066817</li><li>rs2066816</li>	3
P52655	2957	<ul><li>V->A at 270: Slightly affects cleavage and yields elevated levels of the precursor</li><li>Q->A at 272: Abolishes cleavage</li><li>V->A at 273: Abolishes cleavage</li><li>D->A at 274: Abolishes cleavage</li><li>G->A at 275: Abolishes cleavage</li><li>T->A at 276: Does not affect cleavage</li><li>G->A at 277: Does not affect cleavage</li><li>D->A at 278: Significant reduction of cleavage</li><li>S->A at 280: Slightly affects cleavage, yields elevated levels of the precursor. Eliminates phosphorylation; when associated with A-281; A-316 and A-321</li><li>S->A at 281: Eliminates phosphorylation; when associated with A-280; A-316 and A-321</li><li>E->A at 282: Slightly affects cleavage and yields elevated levels of the precursor</li><li>S->A at 316: Strongly reduces phosphorylation; when associated with A-321. Eliminates phosphorylation; when associated with A-280; A-281 and A-321</li><li>S->A at 321: Strongly reduces phosphorylation; when associated with A-316. Eliminates phosphorylation; when associated with A-280; A-281 and A-316</li></ul>	<li>L->V at 30: in a breast cancer sample; somatic mutation</li><li>A->P at 109: in dbSNP:rs17111579</li>	phosphorylation	GO:0016310							rs17111579	3
P52701	2956	<ul><li>K->R at 1140: No effect on mismatch binding, complete loss of DNA repair function when associated with MSH2 mutant R-675</li></ul>	<li>K->T at 13: in dbSNP:rs41294988</li><li>A->V at 20: in colorectal/endometrial cancer</li><li>A->V at 25: in dbSNP:rs35462442</li><li>G->E at 39: in dbSNP:rs1042821</li><li>G->A at 54: in CRC; uncertain pathogenicity</li><li>S->L at 65: in dbSNP:rs41294984</li><li>K->N at 99: in CRC; uncertain pathogenicity</li><li>R->L at 128: no impairment of heterodimerization with MSH2 and of in vitro mismatch repair capacity</li><li>S->I at 144: in suspected HNPCC5 and CRC; dbSNP:rs3211299</li><li>E->D at 220: in dbSNP:rs1800938</li><li>E->D at 221: in dbSNP:rs41557217</li><li>S->I at 285: in CRC</li><li>K->R at 295: in multiple colorectal adenoma</li><li>F->S at 340: in CRC, breast cancer and leukemia</li><li>L->V at 396: rare polymorphism; dbSNP:rs2020908</li><li>L->P at 449: in colorectal/endometrial cancer; uncertain pathogenicity</li><li>R->H at 468: in dbSNP:rs41295268</li><li>M->V at 492: in HNPCC5, MIM: 600678</li><li>S->C at 503, MIM: 600678</li><li>V->A at 509, MIM: 600678</li><li>Q->R at 522: in CRC; uncertain pathogenicity, MIM: 600678</li><li>Y->S at 538: in dbSNP:rs728619, MIM: 600678</li><li>G->R at 566: in CRC; partial functional loss, MIM: 600678</li><li>S->L at 580: in dbSNP:rs41295270, MIM: 600678</li><li>E->D at 619: in CRC; uncertain pathogenicity, MIM: 600678</li><li>P->A at 623: in dbSNP:rs3136334, MIM: 600678</li><li>P->L at 623: no impairment of heterodimerization with MSH2 and of in vitro mismatch repair capacity, MIM: 600678</li><li>G->A at 685: in CRC, MIM: 600678</li><li>Q->E at 698: in suspected HNPCC; could be a polymorphism, MIM: 600678</li><li>I->M at 725: in CRC; uncertain pathogenicity, MIM: 600678</li><li>K->T at 728: no impairment of heterodimerization with MSH2 and of in vitro mismatch repair capacity; dbSNP:rs35552856, MIM: 600678</li><li>R->Q at 772: in CRC, MIM: 600678</li><li>R->W at 772: in HNPCC5, MIM: 600678</li><li>A->V at 787: in CRC; uncertain pathogenicity, MIM: 600678</li><li>V->A at 800: in CRC; somatic mutation, MIM: 600678</li><li>V->L at 800: may be a rare polymorphism, MIM: 600678</li><li>D->G at 803: in CRC, MIM: 600678</li><li>Y->C at 850: in suspected HNPCC5 and CRC, MIM: 600678</li><li>K->M at 854: in CRC; could be a polymorphism; dbSNP:rs34374438, MIM: 600678</li><li>V->A at 878: in suspected HNPCC5, colorectal/endometrial cancer and CRC; dbSNP:rs2020912, MIM: 600678</li><li>I->V at 886: in dbSNP:rs2020914, MIM: 600678</li><li>R->H at 901: in colorectal/endometrial cancer, MIM: 600678</li><li>R->H at 976: in CRC; sporadic, MIM: 600678</li><li>A->D at 1021: in CRC; uncertain pathogenicity, MIM: 600678</li><li>D->V at 1031: in CRC; somatic mutation, MIM: 600678</li><li>R->C at 1076: in CRC; uncertain pathogenicity, MIM: 600678</li><li>P->T at 1087: in CRC, MIM: 600678</li><li>R->H at 1095: in CRC; uncertain pathogenicity, MIM: 600678</li><li>T->M at 1100: in CRC; uncertain pathogenicity, MIM: 600678</li><li>C->R at 1158: in CRC; somatic mutation, MIM: 600678</li><li>E->V at 1163: in HNPCC5, MIM: 600678</li><li>E->K at 1193: in endometrial cancer; display marked impairment of heterodimerization with MSH2 and of in vitro mismatch repair capacity, MIM: 608089</li><li>D->V at 1213, MIM: 608089</li><li>T->I at 1219: in CRC; uncertain pathogenicity, MIM: 608089</li><li>V->L at 1232: in dbSNP:rs41295276, MIM: 608089</li><li>E->Q at 1234: in dbSNP:rs35717727, MIM: 608089</li><li>H->D at 1248: in CRC; uncertain pathogenicity, MIM: 608089</li><li>V->I at 1260, MIM: 608089</li><li>T->M at 1284: in CRC, MIM: 608089</li><li>R->G at 1321: in dbSNP:rs41295278, MIM: 608089</li><li>L->Q at 1354: in CRC; uncertain pathogenicity, MIM: 608089</li>	<li>DNA repair</li><li>mismatch repair</li>	<li>GO:0006281</li><li>GO:0006298</li>	binding	GO:0005488			<li>Q8L925</li><li>Q5XXB5</li><li>P25847</li><li>O24617</li><li>P16960</li><li>P43246</li><li>Q3MHE4</li>	<li>Endometrial cancer [MIM:608089]</li><li>Hereditary non-polyposis colorectal cancer type 5 (HNPCC5) [MIM:600678]</li>	<li>rs2020912</li><li>rs35552856</li><li>rs728619</li><li>rs2020914</li><li>rs34374438</li><li>rs41294984</li><li>rs41295270</li><li>rs1042821</li><li>rs41294988</li><li>rs41557217</li><li>rs3211299</li><li>rs41295278</li><li>rs41295276</li><li>rs3136334</li><li>rs1800938</li><li>rs35717727</li><li>rs41295268</li><li>rs2020908</li><li>rs35462442</li>	3
P52732	3832	<ul><li>T->A at 926: No mitotic phosphorylation. No binding to spindle apparatus</li></ul>	<li>L->F at 1042: in dbSNP:rs34417963</li>	phosphorylation	GO:0016310	binding	GO:0005488	spindle	GO:0005819			rs34417963	3
P52788	6611	<ul><li>D->A,N at 201: 100,000-fold decrease in catalytic efficiency</li><li>D->N at 276: 200,000-fold decrease in catalytic efficiency</li><li>E->Q at 353: 800-fold decrease in catalytic efficiency</li></ul>											1
P52799	1948	<ul><li>LW->YM at 121-122: Complete loss of Nipah protein G binding</li></ul>				binding	GO:0005488			<li>P62555</li><li>P62554</li>			1
P52848	3340	<ul><li>K->A at 614: Loss of sulfotransferase activity</li></ul>				sulfotransferase activity	GO:0008146						1
P53350	5347	<ul><li>K->M at 82: Abolishes activity</li><li>S->A at 137: No change in activity</li><li>S->D at 137: Increases activity. Results in a block in G1/S</li><li>D->N at 194: Abolishes activity</li><li>D->R at 194: Abolishes activity</li><li>E->D at 206: No change in activity</li><li>E->V at 206: Decreases activity</li><li>T->D at 210: Increases activity</li><li>T->E at 210: Slightly increases activity</li><li>T->V at 210: Abolishes activity</li></ul>	<li>R->L at 12: in a lung squamous cell carcinoma sample; somatic mutation</li><li>L->F at 261: in dbSNP rsrs35056440</li><li>N->D at 297: in dbSNP:rs16972799</li><li>L->V at 332: in dbSNP rsrs45489499</li><li>L->H at 463: in dbSNP rsrs45569335</li><li>R->H at 518: in dbSNP rsrs56027600</li><li>S->L at 595: in dbSNP:rs34001032</li><li>R->H at 599: in dbSNP:rs34954545</li>									<li>rs45569335</li><li>rs34001032</li><li>rs35056440</li><li>rs34954545</li><li>rs45489499</li><li>rs56027600</li><li>rs16972799</li>	3
P53355	1612	<ul><li>K->A at 42: Loss of activity, apoptotic function and of autophosphorylation</li><li>S->A at 308: Elevated Ca(2+)-calmodulin binding and Ca(2+)-calmodulin-independent kinase activity. Increases apoptotic activity</li><li>S->D at 308: Reduced Ca(2+)-calmodulin binding and Ca(2+)-calmodulin-independent kinase activity. Decreases apoptotic activity</li><li>S->A at 313: Minimal effect on activity</li></ul>	<li>V->I at 416: in dbSNP:rs12343465</li><li>A->S at 461</li><li>S->A at 519: in dbSNP rsrs56284867</li><li>C->Y at 540: in dbSNP rsrs56327474</li><li>M->T at 941</li><li>R->W at 977</li><li>K->N at 978</li><li>Y->C at 993</li><li>D->E at 994</li><li>E->Q at 1005</li><li>D->Y at 1007</li><li>L->P at 1008</li><li>R->C at 1010</li><li>T->A at 1018</li><li>M->I at 1272: in dbSNP rsrs56169226</li><li>N->S at 1344: in dbSNP:rs1056719</li><li>N->S at 1346: in dbSNP rsrs1056719</li><li>G->V at 1405: in dbSNP rsrs36220450</li>	autophosphorylation	GO:0046777	<li>binding</li><li>kinase activity</li>	<li>GO:0005488</li><li>GO:0016301</li>			<li>Q40302</li><li>Q8STF0</li><li>P04353</li><li>P41040</li><li>P04352</li><li>Q9GRJ1</li><li>P61860</li><li>P02594</li><li>P02595</li><li>P61861</li><li>P48976</li><li>O82018</li><li>P62144</li><li>P62184</li><li>P93171</li><li>P62145</li><li>P07463</li><li>Q5RAD2</li><li>P24044</li><li>P11121</li><li>P62149</li><li>O02367</li><li>P06787</li><li>Q6IT78</li><li>P05935</li><li>P05933</li><li>O16305</li><li>Q6PI52</li><li>P05934</li><li>Q6YNX6</li><li>Q7Y052</li><li>Q95NR9</li><li>P11118</li><li>P62157</li><li>P62156</li><li>P21251</li><li>P62155</li><li>Q5EHV7</li><li>P62154</li><li>P62152</li><li>P62151</li><li>Q7T3T2</li><li>P69097</li><li>P69098</li><li>P60206</li><li>Q9U6D3</li><li>Q9HFY6</li><li>P60205</li><li>P60204</li><li>P62158</li><li>O96102</li><li>P18061</li><li>P62201</li><li>P11120</li><li>P93087</li><li>Q8X187</li><li>O60041</li><li>P62160</li><li>P62204</li><li>Q05055</li><li>P62203</li><li>P61859</li><li>P62202</li><li>P17928</li><li>P15094</li><li>Q95NI4</li><li>P02598</li><li>P62162</li><li>Q9UWF0</li><li>P02599</li><li>P62161</li><li>Q71UH6</li><li>Q71UH5</li><li>O97341</li><li>P04464</li><li>P27165</li><li>Q39752</li><li>P27166</li><li>P84339</li><li>P23286</li><li>P27161</li><li>O94739</li><li>P41041</li><li>Q6R520</li>		<li>rs1056719</li><li>rs56327474</li><li>rs56169226</li><li>rs36220450</li><li>rs12343465</li><li>rs56284867</li>	3
P53667	3984	<ul><li>C->S at 84: Enhances actin aggregation</li><li>GL->EA at 177-178: Enhances actin aggregation</li><li>D->N at 460: Abrogates kinase activity</li><li>Missing at 496-506: Reduces actin aggregation</li><li>RKK->GAA at 503-505: Abolishes kinase activity</li><li>T->A at 508: Abolishes activation by ROCK1</li><li>T->EE at 508: Enhances kinase activity</li><li>T->V,E at 508: Reduces kinase activity</li></ul>	<li>G->A at 190: in dbSNP rsrs35827364</li><li>S->N at 247: in dbSNP rsrs55661242</li><li>R->Q at 422: in dbSNP rsrs55679316</li><li>F->Y at 580: in dbSNP:rs178412</li>			kinase activity	GO:0016301			<li>Q92192</li><li>Q92193</li><li>P53499</li><li>P26183</li><li>P53498</li><li>O13419</li><li>Q9P4D1</li><li>P48465</li><li>P53455</li><li>Q39596</li><li>Q39758</li><li>P26182</li><li>P80709</li><li>Q9UVX4</li><li>P78711</li><li>P53689</li><li>O17320</li><li>P30161</li><li>P17128</li><li>P45521</li><li>P81085</li><li>P20904</li><li>P45520</li><li>Q6TCF2</li><li>Q99023</li><li>Q75D00</li><li>P51775</li><li>P10365</li><li>P60011</li><li>Q8MIT6</li><li>P60010</li><li>Q8SWN8</li><li>O16808</li><li>Q13464</li><li>P02577</li><li>O77819</li><li>P10989</li><li>P68555</li><li>Q05214</li><li>Q8X119</li><li>O65316</li><li>O65315</li><li>O65314</li><li>P61584</li><li>P53491</li><li>P91754</li><li>P13363</li><li>P11426</li><li>O81221</li><li>Q11212</li><li>P50138</li><li>P53477</li><li>P53476</li><li>P60009</li><li>P53502</li><li>Q2U7A3</li><li>P53500</li><li>Q9UVZ8</li><li>O00937</li><li>P14235</li><li>Q9UVF3</li><li>Q24733</li><li>P90689</li><li>P24902</li><li>O74258</li>		<li>rs55679316</li><li>rs55661242</li><li>rs35827364</li><li>rs178412</li>	3
P53671	3985	<ul><li>T->E at 505: Increases kinase activity</li><li>T->V at 505: Abolishes cofilin phosphorylation and enhancement of stress fiber formation</li></ul>	<li>G->S at 35: in dbSNP:rs5997917</li><li>D->N at 45: in dbSNP rsrs35923988</li><li>R->C at 213: in dbSNP rsrs34930775</li><li>P->R at 296: in dbSNP rsrs34875793</li><li>R->H at 381: in dbSNP:rs2229874</li><li>R->C at 418: in dbSNP rsrs35422808</li>	phosphorylation	GO:0016310	kinase activity	GO:0016301	stress fiber	GO:0001725	<li>P78929</li><li>Q4I963</li><li>Q6CQ22</li><li>Q759P0</li><li>Q96VU9</li><li>Q6C0Y0</li><li>Q03048</li><li>Q5KJM6</li><li>Q4P6E9</li><li>Q9HF97</li><li>Q6FV81</li><li>P54706</li><li>Q6BWX4</li>		<li>rs35422808</li><li>rs2229874</li><li>rs5997917</li><li>rs35923988</li><li>rs34875793</li><li>rs34930775</li>	3
P53778	6300	<ul><li>D->A at 179: Emulation of the active state</li><li>Y->F at 185: Loss of activity</li><li>F->S at 330: No effect</li></ul>	<li>T->M at 103: in dbSNP:rs34422484</li><li>D->N at 230: in dbSNP:rs35396905</li><li>T->M at 244: in dbSNP:rs2066776</li>									<li>rs35396905</li><li>rs34422484</li><li>rs2066776</li>	3
P53999	10923	<ul><li>K->G at 68: Reduced ssDNA binding</li><li>R->G at 75: Reduced ssDNA binding</li><li>FKGK->AGG at 77-80: Loss of ssDNA binding</li><li>R->G at 86: Loss of ssDNA binding</li><li>K->G at 101: Loss of ssDNA binding</li></ul>	<li>S->G at 11: in dbSNP:rs17850527</li>			binding	GO:0005488					rs17850527	3
P54198	7290	<ul><li>Missing at 449-458: Impairs binding to ASF1A</li><li>RRR->AKK at 458-460: Abrogates binding to ASF1A</li><li>RRR->KKK at 458-460: Impairs binding to ASF1A</li><li>RR->AK at 458-459: Impairs binding to ASF1A</li><li>R->A at 458: Impairs binding to ASF1A</li><li>R->K at 458: Impairs binding to ASF1A; when associated with K-460</li><li>Missing at 459-468: Abrogates binding to ASF1A</li><li>R->A at 459: Abrogates binding to ASF1A</li><li>R->A at 460: Abrogates binding to ASF1A</li><li>R->K at 460: Impairs binding to ASF1A; when associated with K-458</li><li>I->D at 461: Abrogates binding to ASF1A</li><li>L->D at 464: Impairs binding to ASF1A</li><li>I->D at 466: Impairs binding to ASF1A</li><li>T->A at 555: Impairs phosphorylation by CDK2</li><li>KRKL->AAAA at 628-631: Impairs binding to CCNA1 and phosphorylation by CDK2</li></ul>		phosphorylation	GO:0016310	binding	GO:0005488			<li>P48963</li><li>Q5E9Y0</li><li>P43450</li><li>P78396</li><li>P24941</li><li>Q92161</li><li>O55076</li>			1
P54252	4287	<ul><li>C->A at 14: Loss of ubiquitinated protein retention</li><li>S->A at 236: Inhibits substrate trapping</li><li>S->A at 256: Inhibits substrate trapping</li><li>S->A at 347: No effect on ubiquitination</li></ul>	<li>V->M at 212: in dbSNP:rs1048755</li><li>QQQQQQQQQQQQR-> at 306-318</li><li>Missing  at 361-376: in allele MJD1a</li>	protein retention	GO:0045185							rs1048755	3
P54274	7013	<ul><li>A->D at 74: Abolishes dimerization and telomere binding; when associated with P-75</li><li>A->P at 75: Abolishes dimerization and telomere binding; when associated with D-74</li><li>W->P at 77: Abolishes telomere binding</li><li>F->P at 81: Abolishes telomere binding</li><li>F->P at 90: Diminishes telomere binding</li><li>S->A at 219: Loss of phosphorylation; induction of mitotic entry and apoptosis and increased radiation hypersensitivity of ataxia-telangiectasia cells</li><li>S->D,E at 219: Fails to induce apoptosis and decreases radiation hypersensitivity of ataxia-telangiectasia cells (phospho-mimicking mutants)</li></ul>		<li>phosphorylation</li><li>apoptosis</li>	<li>GO:0016310</li><li>GO:0006915</li>	binding	GO:0005488						1
P54762	2047	<ul><li>Y->F at 928: Disrupts binding with the GRB10 SH2 domain, providing evidence for phosphorylation</li></ul>	<li>M->V at 18: in dbSNP rsrs55650774</li><li>T->S at 87: in dbSNP:rs1042794</li><li>G->R at 152: in dbSNP:rs1042793</li><li>R->G at 367: in dbSNP:rs1042789</li><li>T->M at 387: in dbSNP rsrs56396912</li><li>R->S at 485: in dbSNP:rs1042788</li><li>S->T at 707: in an ovarian undifferentiated carcinoma sample; somatic mutation</li><li>I->V at 719: in a gastric adenocarcinoma sample; somatic mutation</li><li>R->Q at 743: in a gastric adenocarcinoma sample; somatic mutation</li><li>M->T at 847: in dbSNP:rs1042785</li><li>A->T at 912: in dbSNP rsrs56345346</li><li>T->M at 981: in dbSNP rsrs56186270</li>	phosphorylation	GO:0016310	binding	GO:0005488			<li>Q13322</li><li>P55241</li>		<li>rs56396912</li><li>rs1042788</li><li>rs55650774</li><li>rs1042789</li><li>rs56186270</li><li>rs1042785</li><li>rs1042794</li><li>rs1042793</li><li>rs56345346</li>	3
P55072	7415	<ul><li>K->A at 524: Impairs catalytic activity of RNF19A toward SOD1 mutant</li></ul>	<li>R->G at 95: in IBMPFD, MIM: 167320</li><li>R->C at 155: in IBMPFD; also in one patient without evidence of Paget disease of the bone, MIM: 167320</li><li>R->H at 155: in IBMPFD, MIM: 167320</li><li>R->P at 155: in IBMPFD, MIM: 167320</li><li>R->H at 159: in IBMPFD; without frontotemporal dementia, MIM: 167320</li><li>R->Q at 191: in IBMPFD, MIM: 167320</li><li>A->E at 232: in IBMPFD, MIM: 167320</li>			catalytic activity	GO:0003824			<li>P00445</li><li>Q9SQL5</li><li>P00443</li><li>P00442</li><li>P00441</li><li>Q8HXQ1</li><li>Q8HXQ0</li><li>Q8HXQ3</li><li>Q8HXQ2</li><li>Q8HXQ4</li><li>Q711T9</li><li>Q5FB29</li><li>Q8HXP9</li><li>P33431</li><li>Q751L8</li><li>P80566</li><li>Q96VL0</li><li>Q6CPE2</li><li>P09670</li><li>Q8HXP8</li><li>Q8J0N3</li><li>Q8J0N2</li><li>Q6T3B0</li><li>P60052</li><li>Q52RN5</li><li>O46412</li><li>Q9C0N4</li><li>Q6FWL5</li><li>Q7M1R5</li><li>O42724</li><li>Q8WNN6</li><li>P09212</li><li>P04178</li><li>P93258</li><li>Q42684</li><li>O94178</li><li>Q6C662</li><li>O59924</li>	Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]		3
P55157	4547	<ul><li>R->K at 540: No change of activity</li><li>C->S at 878: Loss of activity</li></ul>	<li>Q->H at 95</li><li>E->D at 98: in dbSNP:rs2306986</li><li>I->T at 128: in dbSNP:rs3816873</li><li>N->S at 166: in dbSNP:rs3792683</li><li>V->I at 168: rare polymorphism</li><li>Q->E at 244: in dbSNP:rs17599091</li><li>H->Q at 297: in dbSNP:rs2306985</li><li>E->Q at 354: in dbSNP:rs12933</li><li>D->A at 384: in dbSNP:rs17029215</li><li>R->H at 540: in ABL; loss of activity, MIM: 200100</li><ul><li>R->K at 540: No change of activity</li></ul><li>S->I at 590: in ABL, MIM: 200100</li></ul><li>G->E at 746: in ABL, MIM: 200100</li></ul><li>N->Y at 780: in ABL; loss of activity, MIM: 200100</li></ul>							<li>P11681</li><li>P00521</li><li>Q00022</li><li>P10447</li><li>P00519</li>	Abetalipoproteinemia (ABL) [MIM:200100]	<li>rs17599091</li><li>rs17029215</li><li>rs3816873</li><li>rs2306986</li><li>rs2306985</li><li>rs12933</li><li>rs3792683</li>	4
P55210	840	<ul><li>C->A at 186: No apoptotic activity</li></ul>	<li>D->E at 4: in dbSNP:rs11593766</li><li>D->E at 255: in dbSNP:rs2227310</li>									<li>rs2227310</li><li>rs11593766</li>	3
P55212	839	<ul><li>S->A at 257: Suppression of caspase-6 activation</li></ul>	<li>E->K at 35: in dbSNP:rs11574697</li><li>A->T at 109: in dbSNP:rs5030674</li><li>T->S at 182: in dbSNP:rs5030593</li>									<li>rs5030674</li><li>rs11574697</li><li>rs5030593</li>	3
P55265	103	<ul><li>K->R at 418: Abolishes sumoylation</li></ul>	<li>G->R at 100: in dbSNP:rs1466731</li><li>K->R at 384: in dbSNP:rs2229857</li><li>Y->C at 587: in dbSNP:rs17843865</li><li>E->V at 806: in a breast cancer sample; somatic mutation</li><li>L->P at 923: in DSH: in dbSNP rsrs28936680, MIM: 127400</li><li>C->F at 966: in DSH, MIM: 127400</li><li>R->W at 1155: in DSH, MIM: 127400</li><li>F->S at 1165: in DSH: in dbSNP rsrs28936681, MIM: 127400</li>	sumoylation	GO:0016925						Dyschromatosis symmetrical hereditaria (DSH) [MIM:127400]	<li>rs2229857</li><li>rs17843865</li><li>rs28936681</li><li>rs28936680</li><li>rs1466731</li>	3
P55316	2290	<ul><li>VP->AA at 388-389: Abolishes interaction with JARID1B</li><li>VP->AA at 394-395: Abolishes interaction with JARID1B</li><li>P->A at 404: Abolishes interaction with JARID1B</li></ul>											1
P55769	4809	<ul><li>G->K at 38: Abolishes completely RNA-binding</li><li>A->F at 57: Abolishes completely RNA-binding</li><li>Y->A at 80: Abolishes 50% of RNA-binding</li><li>Missing at 96-128: Abolishes completely RNA-binding</li></ul>	<li>T->N at 19: in dbSNP:rs1802521</li>			RNA-binding	GO:0003723					rs1802521	3
P55771	5083	<ul><li>VP->AA at 173-174: Abolishes interaction with JARID1B</li><li>VP->AA at 179-180: Abolishes interaction with JARID1B</li><li>P->A at 189: Abolishes interaction with JARID1B</li></ul>	<li>G->S at 51: in oligodontia, MIM: 604625</li><li>A->P at 240: in dbSNP:rs4904210, MIM: 604625</li>								Oligodontia [MIM:604625]	rs4904210	3
P55854	6612	<ul><li>K->R at 11: Abolishes the formation of poly(SUMO) chains</li></ul>	<li>P->S at 38: in dbSNP:rs1051311</li>									rs1051311	3
P56279	8115	<ul><li>D->G at 16: Greatly reduced binding to AKT1, AKT2 and AKT3. Abolishes nuclear transport of AKT1</li><li>K->M at 30: Slightly reduced binding to AKT2</li><li>PLT->AAA at 36-38: Unable to homodimerize but has no effect on interaction with AKT1, AKT2 or AKT3</li><li>Q->R at 46: Slightly increased binding to AKT2</li><li>I->V at 74: Greatly reduced binding to AKT2. Abolishes nuclear transport of AKT1</li><li>M->V at 106: Slightly increased binding to AKT2</li></ul>	<li>V->I at 56: in dbSNP:rs17093294</li>	nuclear transport	GO:0051169	binding	GO:0005488			<li>Q9Y243</li><li>P31751</li><li>Q38998</li><li>Q9Y896</li><li>Q01314</li><li>P31749</li><li>Q8VYX2</li><li>Q38898</li>		rs17093294	3
P56524	9759	<ul><li>S->A at 246: Reduces phosphorylation and its subsequent nuclear export</li><li>S->A at 467: Reduces phosphorylation and its subsequent nuclear export</li><li>K->R at 559: Abolishes sumoylation and reduces the histone deacetylase activity</li><li>S->A at 632: Reduces phosphorylation and its subsequent nuclear export</li><li>H->L at 803: Abolishes histone deacetylase activity</li><li>V->A at 1056: Reduces CaMK-dependent nuclear export</li><li>L->A at 1062: Reduces CaMK-dependent nuclear export</li></ul>	<li>P->R at 727: in a breast cancer sample; somatic mutation</li>	<li>phosphorylation</li><li>sumoylation</li><li>nuclear export</li>	<li>GO:0016310</li><li>GO:0016925</li><li>GO:0051168</li>					O22446			3
P56589	8504	<ul><li>L->P at 125: Abolishes binding to PEX19 without affecting targeting to peroxisomes; when associated with D-134</li><li>N->D at 134: Abolishes binding to PEX19 without affecting targeting to peroxisomes; when associated with P-125</li></ul>	<li>Q->R at 82: in dbSNP:rs35220041</li><li>G->E at 138: in ZWS, MIM: 214100</li>			binding	GO:0005488	peroxisomes	GO:0005777	<li>P40855</li><li>Q3SZD1</li><li>Q60415</li><li>Q07418</li><li>Q5R7U2</li>	Zellweger syndrome (ZwS) [MIM:214100]	rs35220041	3
P57059	150094	<ul><li>T->A at 182: Prevents phosphorylation and activation by STK11 complex</li></ul>	<li>G->S at 15: in dbSNP:rs3746951</li><li>D->N at 142: in dbSNP:rs45491503</li><li>G->S at 211: in a glioblastoma multiforme sample; somatic mutation</li><li>R->W at 430: in dbSNP:rs34164089</li><li>G->D at 469: in a metastatic melanoma sample; somatic mutation</li><li>A->V at 615: in dbSNP:rs430554</li><li>P->L at 696: in dbSNP rsrs56386767</li><li>A->V at 725: in dbSNP rsrs35596465</li>	phosphorylation	GO:0016310					<li>Q15831</li><li>Q0GGW5</li>		<li>rs45491503</li><li>rs56386767</li><li>rs3746951</li><li>rs430554</li><li>rs34164089</li><li>rs35596465</li>	3
P57075	53347	<ul><li>W->A at 317: Loss of interaction with CBL</li></ul>	<li>S->G at 18: in dbSNP:rs2277798</li><li>L->F at 28: in dbSNP:rs2277800</li><li>Q->R at 286: in dbSNP:rs13048049</li><li>D->E at 466: in dbSNP:rs17114930</li>							<li>P18949</li><li>P22681</li><li>P43623</li><li>P53780</li><li>P44527</li><li>P53101</li><li>Q07703</li><li>Q52811</li><li>P0A4K2</li><li>P06721</li><li>P0A4K3</li><li>P23256</li>		<li>rs2277798</li><li>rs17114930</li><li>rs2277800</li><li>rs13048049</li>	3
P58753	114609	<ul><li>P->H at 125: Abolishes NF-kappa-B activation</li></ul>	<li>A->P at 9: in dbSNP:rs8177369</li><li>R->W at 13: in dbSNP:rs8177399</li><li>S->N at 55: in dbSNP:rs3802813</li><li>D->N at 96: in dbSNP:rs8177400</li><li>S->L at 180: conferres protection against invasive pneumococcal disease, malaria and tuberculosis; attenuates TLR2 signal transduction; dbSNP:rs8177374</li>	transduction	GO:0009293					<li>Q95LA9</li><li>Q95M53</li><li>Q2V897</li><li>Q689D1</li><li>Q9R1F8</li><li>O60603</li>		<li>rs8177374</li><li>rs8177400</li><li>rs8177369</li><li>rs8177399</li><li>rs3802813</li>	3
P60484	5728	<ul><li>D->A at 92: 700-fold reduction in phosphatase activity towards PtdIns(3,4,5)P3. Loss of protein phosphatase activity. Unable to inhibit focal adhesion formation</li><li>H->A at 93: 75% reduction in phosphatase activity towards PtdIns(3,4,5)P3. Modest reduction in phosphatase activity towards PtsIns(3,4)P2</li><li>C->A at 124: Loss of protein phosphatase activity. Unable to inhibit focal adhesion formation</li><li>K->M at 125: Reduced phosphatase activity towards PtdIns(3,4,5)P3, PtsIns(3,4)P2 and PtdIns(3)P</li><li>K->M at 128: 85% reduction in phosphatase activity towards PtdIns(3,4,5)P3</li><li>K->R at 128: Does not reduce phosphatase activity towards PtdIns(3,4,5)P3</li><li>R->M at 130: Does not affect the ability to inhibit AKT/PKB activation</li><li>T->A,D at 167: 60% reduction in phosphatase activity towards PtdIns(3,4,5)P3</li><li>Q->A,E at 171: 75% reduction in phosphatase activity towards PtdIns(3,4,5)P3</li><li>KMLKKDK->AAGAAD at 263-269: Reduces the growth suppression activity and cells show anchorage-independent growth. Reduces binding to phospholipid membranes in vitro. Phosphatase activity towards PtdIns(3,4,5)P3 is not affected</li><li>KANKDKANR->AAGA at 327-335: Reduces the growth suppression activity and cells show anchorage-independent growth. Reduces binding to phospholipid membranes in vitro; phosphatase activity towards PtdIns(3,4,5)P3 is not affected</li><li>T->A at 401: Loss of DLG1-binding. No effect on MAGI2- and MAST2-binding</li><li>K->A at 402: No effect on MAGI2-, MAST2- and DLG1-binding</li><li>K->W at 402: Loss of DLG1-, MAGI2-, MAGI3- and MAST2-binding. Decrease of protein stability</li><li>V->A at 403: Loss of DLG1-, MAGI2-, MAGI3-, MAST1-, MAST2- and MAST3-binding</li></ul>	<li>S->N at 10: retains phosphatase activity towards Ins</li><li>R->S at 15: in glioma</li><li>Y->C at 16: loss of phosphatase activity towards Ins</li><li>D->N at 19: in malignant melanoma; somatic mutation</li><li>G->E at 20: reduced phosphatase activity towards Ins</li><li>Y->S at 27: loss of phosphatase activity towards Ins</li><li>Missing  at 33: in CD</li><li>A->D at 34: in BZS, MIM: 153480</li><li>M->R at 35: in CD, MIM: 158350</li><li>G->E at 36: in glioma, MIM: 158350</li><li>G->R at 36: in endometrial hyperplasia, MIM: 158350</li><li>L->R at 42: in glioma; retains phosphatase activity towards Ins, MIM: 158350</li><li>R->G at 47: in CD, MIM: 158350</li><li>L->W at 57: in glioma; loss of protein phosphatase activity, MIM: 158350</li><li>H->D at 61: in VATER, MIM: 158350</li><li>H->R at 61: loss of phosphatase activity towards Ins, MIM: 158350</li><li>I->R at 67: in CD, MIM: 158350</li><li>Y->H at 68: in CD and BZS; loss of phosphatase activity towards Ins, MIM: 158350</li><li>L->P at 70: in CD, MIM: 158350</li><li>C->Y at 71: in CD; loss of phosphatase activity towards Ins, MIM: 158350</li><li>H->R at 93: in macrocephaly/autism syndrome, MIM: 605309</li><ul><li>H->A at 93: 75% reduction in phosphatase activity towards PtdIns(3,4,5)P3. Modest reduction in phosphatase activity towards PtsIns(3,4)P2</li></ul><li>H->Y at 93: in CD, MIM: 158350</li><ul><li>H->A at 93: 75% reduction in phosphatase activity towards PtdIns(3,4,5)P3. Modest reduction in phosphatase activity towards PtsIns(3,4)P2</li></ul><li>C->F at 105: in BZS; loss of phosphatase activity towards Ins, MIM: 153480</li></ul><li>C->Y at 105: in BZS, MIM: 153480</li></ul><li>D->Y at 107: in BZS and glioblastoma; loss of phosphatase activity towards Ins, MIM: 153480</li></ul><li>L->P at 112: in CD and LDD; loss of phosphatase activity towards Ins, MIM: 158350</li></ul><li>L->R at 112: loss of phosphatase activity towards Ins, MIM: 158350</li></ul><li>V->L at 119: in multiple cancers, MIM: 158350</li></ul><li>A->G at 121: in HNSCC, MIM: 275355</li></ul><li>A->P at 121: in glioblastoma; loss of phosphatase activity towards Ins, MIM: 275355</li></ul><li>H->R at 123: in CD, MIM: 158350</li></ul><li>H->Y at 123: in endometrial cancer; loss of protein phosphatase activity, MIM: 608089</li></ul><li>C->R at 124: in CD, MIM: 158350</li><ul><li>C->A at 124: Loss of protein phosphatase activity. Unable to inhibit focal adhesion formation</li></ul><li>C->S at 124: in CD; phosphatase-dead protein with neither lipid nor protein phosphatase activity, MIM: 158350</li><ul><li>C->A at 124: Loss of protein phosphatase activity. Unable to inhibit focal adhesion formation</li></ul><li>G->E at 129: in CD; no lipid phosphatase activity but retains protein phosphatase activity; retains ability to inhibit focal adhesion formation, MIM: 158350</li></ul><li>G->R at 129: in glioblastoma; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins, MIM: 158350</li></ul><li>R->G at 130: loss of phosphatase activity towards Ins, MIM: 158350</li><ul><li>R->M at 130: Does not affect the ability to inhibit AKT/PKB activation</li></ul><li>R->L at 130: in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins, MIM: 158350</li><ul><li>R->M at 130: Does not affect the ability to inhibit AKT/PKB activation</li></ul><li>R->Q at 130: in CD; loss of phosphatase activity towards Ins, MIM: 158350</li><ul><li>R->M at 130: Does not affect the ability to inhibit AKT/PKB activation</li></ul><li>G->V at 132: in one patient with clinical findings suggesting hamartoma tumor syndrome, MIM: 158350</li></ul><li>V->I at 133: loss of phosphatase activity towards Ins, MIM: 158350</li></ul><li>M->L at 134: in prostate cancer; no effect on protein phosphatase activity; reduced phosphatase activity towards Ins, MIM: 176807</li></ul><li>I->V at 135: in BZS, MIM: 153480</li></ul><li>C->Y at 136: in CD; loss of phosphatase activity towards Ins, MIM: 158350</li></ul><li>A->AN at 137: in CD, MIM: 158350</li></ul><li>Y->C at 155: in CD; loss of phosphatase activity towards Ins, MIM: 158350</li></ul><li>V->L at 158: in multiple cancers, MIM: 158350</li></ul><li>G->E at 165: in CD, MIM: 158350</li></ul><li>G->R at 165: in glioblastoma; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins, MIM: 158350</li></ul><li>G->V at 165: in CD, MIM: 158350</li></ul><li>T->P at 167: in breast cancer; severely reduced protein phosphatase activity, MIM: 158350</li><ul><li>T->A,D at 167: 60% reduction in phosphatase activity towards PtdIns(3,4,5)P3</li></ul><li>S->N at 170: loss of phosphatase activity towards Ins, MIM: 158350</li></ul><li>S->R at 170: in BZS; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins, MIM: 153480</li></ul><li>R->C at 173: in endometrial hyperplasia; loss of phosphatase activity towards Ins, MIM: 153480</li></ul><li>R->H at 173: loss of phosphatase activity towards Ins, MIM: 153480</li></ul><li>R->P at 173: loss of phosphatase activity towards Ins, MIM: 153480</li></ul><li>Y->N at 174: loss of phosphatase activity towards Ins, MIM: 153480</li></ul><li>V->A at 191: in endometrial hyperplasia, MIM: 153480</li></ul><li>V->I at 217: in malignant melanoma; somatic mutation, MIM: 153480</li></ul><li>S->F at 227: reduced phosphatase activity towards Ins, MIM: 153480</li></ul><li>R->Q at 234: in oligodendroglioma; not capable of inducing apoptosis; induced increased cell proliferation; led to high constitutive AKT1 activation which could not be increased further by stimulation with insulin, MIM: 137800</li></ul><li>F->S at 241: in macrocephaly/autism syndrome, MIM: 605309</li></ul><li>P->L at 246: in CD and BZS, MIM: 158350</li></ul><li>G->C at 251: loss of phosphatase activity towards Ins, MIM: 158350</li></ul><li>D->G at 252: in macrocephaly/autism syndrome, MIM: 605309</li></ul><li>K->E at 289: in CD; reduced phosphatase activity towards Ins, MIM: 158350</li></ul><li>V->L at 290: in dbSNP:rs35600253, MIM: 158350</li></ul><li>Missing  at 319: in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB, MIM: 158350</li></ul><li>D->G at 331: in CD; reduced phosphatase activity towards Ins, MIM: 158350</li></ul><li>F->V at 341: in CD; loss of phosphatase activity towards Ins, MIM: 158350</li></ul><li>K->N at 342: in CD; reduced phosphatase activity towards Ins, MIM: 158350</li></ul><li>V->E at 343: in CD; loss of phosphatase activity towards Ins, MIM: 158350</li></ul><li>L->Q at 345: in glioblastoma; reduced tumor suppressor activity; loss of phosphatase activity towards Ins, MIM: 158350</li></ul><li>F->L at 347: in CD; reduced phosphatase activity towards Ins, MIM: 158350</li></ul><li>T->I at 348: in endometrial hyperplasia; reduced phosphatase activity towards PtdIns, MIM: 158350</li></ul><li>V->G at 369: retains Ins, MIM: 158350</li></ul><li>T->I at 401: retains Ins, MIM: 158350</li><ul><li>T->A at 401: Loss of DLG1-binding. No effect on MAGI2- and MAST2-binding</li></ul>	<li>cell proliferation</li><li>focal adhesion formation</li><li>apoptosis</li>	<li>GO:0008283</li><li>GO:0048041</li><li>GO:0006915</li>	binding	GO:0005488	membranes	GO:0016020	<li>Q88A53</li><li>Q7MBF4</li><li>O60307</li><li>Q5PC82</li><li>Q821A6</li><li>P0C236</li><li>Q87SK9</li><li>P42633</li><li>Q9I5V3</li><li>Q5F8K9</li><li>P68243</li><li>P68992</li><li>P81423</li><li>Q5WT58</li><li>Q8P5D4</li><li>P45269</li><li>P68245</li><li>Q6P0Q8</li><li>P69046</li><li>P01316</li><li>P01314</li><li>Q8ZI64</li><li>Q60CQ4</li><li>P01319</li><li>P12703</li><li>P12704</li><li>P12708</li><li>Q7MAZ9</li><li>Q5P3T0</li><li>Q5ZRX9</li><li>P01330</li><li>P69048</li><li>P69047</li><li>Q9CP21</li><li>P01324</li><li>Q82U82</li><li>P01320</li><li>P31750</li><li>Q8ZLY4</li><li>Q6FA38</li><li>Q01314</li><li>P01328</li><li>Q8VYX2</li><li>Q62EU1</li><li>Q9TQY7</li><li>Q665U9</li><li>P01340</li><li>Q8PPG9</li><li>P68990</li><li>P68991</li><li>Q9L7A3</li><li>Q7Z460</li><li>P01336</li><li>P68988</li><li>P01334</li><li>P13190</li><li>P68987</li><li>P01331</li><li>Q87DS9</li><li>P09477</li><li>P09476</li><li>P68989</li><li>P31749</li><li>Q5X1E5</li><li>Q8INB9</li><li>Q9Y2H9</li><li>Q38998</li><li>P07453</li><li>Q9JZ88</li><li>Q63YC3</li><li>Q8Y395</li><li>Q6LV05</li><li>Q9PDL7</li><li>Q57JQ5</li><li>P06961</li><li>Q88QU2</li><li>P29335</li><li>Q5E2K7</li><li>P18109</li><li>Q8CXX6</li><li>Q12959</li><li>P67974</li><li>P67973</li><li>Q7M7K5</li><li>Q8XBL4</li><li>Q8Z3M9</li><li>P67971</li><li>P47196</li><li>Q86UL8</li><li>Q9JUB2</li><li>Q9KPC6</li><li>Q8CWL6</li><li>P67969</li><li>P67968</li><li>P81881</li><li>Q6D160</li><li>Q65Q41</li>	<li>Prostate cancer [MIM:176807]</li><li>Oligodendroglioma [MIM:137800]</li><li>Macrocephaly/autism syndrome [MIM:605309]</li><li>Bannayan-Zonana syndrome (BZS) [MIM:153480]</li><li>Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355]</li><li>Cowden disease (CD) [MIM:158350]</li><li>Endometrial cancer [MIM:608089]</li><li>Lhermitte-Duclos disease (LDD) [MIM:158350]</li>	rs35600253	4
P60510	5531	<ul><li>E->K at 39: Diminishes interaction with PPP4R4</li><li>E->K at 64: Abolishes interaction with PPP4R4</li><li>N->D at 76: Diminishes interaction with PPP4R4</li><li>R->E at 107: Diminishes interaction with PPP4R4</li><li>E->K at 277: Abolishes interaction with PPP4R4; no effect on interaction with PPP4R1 and PPP4R2</li></ul>								Q8TF05			1
P60953	998	<ul><li>G->V at 12: Constitutively active. Interacts with PARD6 proteins</li><li>T->N at 17: Constitutively inactive. Does not interact with PARD6 proteins</li><li>Q->L at 61: Constitutively active. Interacts with PARD6 proteins</li></ul>											1
P61020	5869	<ul><li>S->N at 34: Constitutively inactivated. Strongly reduces interaction with RIN2</li><li>Q->L at 79: Constitutively active</li></ul>								Q8WYP3			1
P61073	7852	<ul><li>Y->F at 7: Sulfate incorporation greatly reduced; when associated with F-12 and F-21. Moderate reduction in sulfate incorporation; when associated with F-12 and A-18. No sulfate incorporation and binding PDF1alpha greatly reduced; when associated with F-12; A-18 and F-21</li><li>T->A at 8: No effect on sulfate incorporation; when associated with A-9 and A-13</li><li>S->A at 9: No effect on sulfate incorporation; when associated with A-8 and A-13</li><li>N->A at 11: Reduced molecular weight. Enhanced coreceptor activity on R5 HIV-1 isolate Envs. Slight further enhancement of coreceptor activity; when associated with A-13</li><li>Y->F at 12: Sulfate incorporation greatly reduced; when associated with F-7 and F-21. Moderate reduction in sulfate incorporation; when associated with F-7 and A-18. No sulfate incorporation and binding PDF1alpha greatly reduced; when associated with F-7; A-18 and F-21</li><li>T->A at 13: Enhanced coreceptor activity on R5 HIV-1 isolate Envs. No effect on sulfate incorporation; when associated with A-8 and A-9</li><li>S->A at 18: Sulfate incorporation greatly reduced; when associated with F-21. Moderate reduction in sulfate incorporation; when associated with F-7 and F-12. No sulfate incorporation and binding PDF1alpha greatly reduced; when associated with F-7; F-12; and F-21</li><li>Y->F at 21: Sulfate incorporation greatly reduced; when associated with F-7 and F-12. Sulfate incorporation greatly reduced; when associated with A-18. No sulfate incorporation and binding PDF1alpha greatly reduced; when associated with F-7; F-12 and A-18</li><li>N->A at 176: Enhanced coreceptor activity on R5 HIV-1 isolate Envs; when associated with A-11</li></ul>				<li>binding</li><li>coreceptor activity</li>	<li>GO:0005488</li><li>GO:0015026</li>			<li>P24105</li><li>P15831</li><li>Q9QBZ8</li><li>P33498</li><li>Q9QBZ4</li><li>P11268</li><li>P23422</li><li>P18040</li><li>P05877</li><li>P05878</li><li>P05879</li><li>P11267</li><li>P23423</li><li>P08360</li><li>P05880</li><li>P16082</li><li>Q1A243</li><li>P25057</li><li>P05882</li><li>P05881</li><li>P05884</li><li>P05883</li><li>Q9QBZ0</li><li>Q79670</li><li>P22427</li><li>P22428</li><li>P22429</li><li>P31872</li><li>P51520</li><li>Q9QBY2</li><li>P23064</li><li>P19503</li><li>P17281</li><li>Q02076</li><li>Q89607</li><li>P04027</li><li>Q74126</li><li>P16090</li><li>P21436</li><li>Q09SZ7</li><li>Q9WC69</li><li>P27757</li><li>Q04995</li><li>P12449</li><li>P23073</li><li>P19549</li><li>P0C212</li><li>P51515</li><li>Q73372</li><li>P21445</li><li>P51519</li><li>P21444</li><li>P19550</li><li>P21443</li><li>P19551</li><li>P07575</li><li>P19556</li><li>P19557</li><li>P20829</li><li>Q9WC60</li><li>P31819</li><li>P26804</li><li>O12164</li><li>P40932</li><li>P26803</li><li>Q9TTC0</li><li>P05885</li><li>P05886</li><li>P16899</li><li>P22380</li><li>Q04993</li><li>P11306</li><li>P08359</li><li>P08810</li><li>P20888</li><li>P32541</li><li>Q02837</li><li>Q75008</li><li>Q77377</li><li>O91086</li><li>P31789</li><li>P03399</li><li>O70902</li><li>P10259</li><li>O56861</li><li>P17755</li><li>P18799</li><li>P04502</li><li>P31794</li><li>P31796</li><li>P11370</li><li>P31791</li><li>P31626</li><li>P31627</li><li>P31793</li><li>P06445</li><li>P15073</li><li>P04577</li><li>P04578</li><li>P04579</li><li>P32536</li><li>Q9IDV2</li><li>P03388</li><li>P03389</li><li>P20871</li><li>P20872</li><li>P31621</li><li>P10269</li><li>P03396</li><li>P04580</li><li>P03395</li><li>P18094</li><li>P03398</li><li>P04582</li><li>P03397</li><li>P04581</li><li>P06752</li><li>P03392</li><li>Q76638</li><li>P03391</li><li>P04583</li><li>P03394</li><li>Q03804</li><li>P06751</li><li>P03393</li><li>P35961</li><li>Q0R5Q9</li><li>P03390</li><li>P14075</li><li>Q05312</li><li>P25506</li><li>Q9Q714</li><li>P25507</li><li>P14351</li><li>Q1A261</li><li>P27399</li><li>P11261</li><li>P03379</li><li>P03377</li><li>P03378</li><li>P25504</li><li>P25505</li><li>P03383</li><li>Q03816</li><li>P03381</li><li>Q03817</li><li>P03380</li><li>P03387</li><li>P04624</li><li>P03386</li><li>P03385</li><li>O89292</li><li>P03384</li><li>P04283</li><li>P35954</li><li>O41803</li><li>Q85646</li><li>P12492</li><li>Q02282</li><li>P12490</li><li>P12491</li><li>P22430</li><li>Q70626</li><li>Q9QSQ7</li><li>P10403</li><li>P27977</li><li>P03374</li><li>P21415</li><li>P19030</li><li>P03375</li><li>P21412</li><li>P12489</li><li>P12488</li><li>P12487</li>			1
P61081	9040	<ul><li>M->A at 1: No effect on thioester intermediate formation</li><li>L->A at 4: Impairs thioester intermediate formation</li><li>F->A at 5: Strongly impairs thioester intermediate formation</li><li>S->A at 6: Slightly impairs thioester intermediate formation</li><li>L->A at 7: Strongly impairs thioester intermediate formation</li><li>Q->A at 9: Impairs thioester intermediate formation</li><li>Q->A at 10: No effect on thioester intermediate formation</li><li>K->A at 11: No effect on thioester intermediate formation</li><li>K->A at 12: Impairs thioester intermediate formation</li><li>L->A at 32: Strongly impairs thioester intermediate formation</li><li>Q->A at 35: Strongly impairs thioester intermediate formation</li><li>K->A at 36: Strongly impairs thioester intermediate formation</li><li>I->A at 38: Strongly impairs thioester intermediate formation</li><li>N->A at 39: No effect on thioester intermediate formation</li><li>L->A at 41: Strongly impairs thioester intermediate formation</li><li>F->A at 51: Strongly impairs thioester intermediate formation</li><li>D->A at 55: Strongly impairs thioester intermediate formation</li><li>L->A at 57: Strongly impairs thioester intermediate formation</li><li>C->S at 111: Forms a stable complex with NEDD8, which prevents subsequent NEDD8 conjugation to cullins</li></ul>		conjugation	GO:0000746					<li>Q15843</li><li>Q9SHE7</li><li>P0C031</li><li>P0C030</li><li>Q4PLJ0</li><li>P61282</li><li>P0C032</li>			1
P61088	7334	<ul><li>C->A at 87: Impairs interaction with SHPRH</li><li>K->R at 92: No ISGylation</li><li>K->R at 94: No effect on ISGylation</li></ul>											1
P61244	4149	<ul><li>K->Q at 66: Kept nuclear localization. Loss of nuclear localization; when associated with Q-153 and Q-154</li><li>K->R at 66: Loss of acetylation, kept nuclear localization; when associated with R-153 and R-154</li><li>K->Q at 153: Loss of nuclear localization; when associated with Q-66 and Q-154. Kept nuclear localization; when associated with Q-154</li><li>K->R at 153: Loss of acetylation, kept nuclear localization; when associated with R-66 and R-154</li><li>K->Q at 154: Loss of nuclear localization; when associated with Q-66 and Q-153. Kept nuclear localization; when associated with Q-153</li><li>K->R at 154: Loss of acetylation, kept nuclear localization; when associated with R-66 and R-153</li></ul>		localization	GO:0051179								1
P61326	4116	<ul><li>KF->EA at 16-17: Impaired nonsense-mediated decay activity</li><li>KN->DA at 41-42: Complete loss of nonsense-mediated decay activity</li><li>DSE->RSR at 66-68: Slightly reduced nonsense-mediated decay activity</li><li>ED->RK at 72-73: Fully active</li><li>RQE->EQR at 85-87: Fully active</li><li>KCLVF->ECLVA at 130-134: Complete loss of nonsense-mediated decay activity</li><li>L->R at 136: Complete loss of nonsense-mediated decay activity</li></ul>											1
P61586	387	<ul><li>G->V at 14: Causes constitutive activation</li><li>Q->L at 63: Causes constitutive activation</li><li>L->M at 193: Converts geranyl-geranylation to farnesylation; does not prevent the cleavage by yopT</li></ul>								<li>P27475</li><li>O68703</li><li>Q93RN4</li>			1
P61956	6613	<ul><li>K->R at 11: Abolishes the formation of poly(SUMO) chains</li></ul>	<li>D->N at 16: in dbSNP:rs17850328</li>									rs17850328	3
P61960	51569	<ul><li>G->A at 83: Confers resistance to cleavage</li></ul>											1
P62166	23413	<ul><li>E->T at 81: Reduces calcium binding; when associated with A-117 or A-165. Abolishes calcium binding; when associated with A-117 and A-165</li><li>T->A at 117: Reduces calcium binding; when associated with T-81. Abolishes calcium binding; when associated with T-81 and A-165</li><li>T->A at 165: Reduces calcium binding; when associated with A-117. Abolishes calcium binding; when associated with T-81 and A-117</li></ul>				binding	GO:0005488						1
P62328	7114	<ul><li>K->P at 12: Very weak actin binding; no inhibition of actin polymerization</li><li>S->A at 16: Binds actin 2.5-fold less than wild-type; little change in inhibition of actin polymerization</li><li>S->AS at 16: Very weak actin binding; no inhibition of actin polymerization</li><li>L->A,P at 18: Very weak actin binding; no inhibition of actin polymerization</li></ul>				binding	GO:0005488			<li>Q92192</li><li>Q92193</li><li>P53499</li><li>P26183</li><li>P53498</li><li>P14883</li><li>O13419</li><li>Q9P4D1</li><li>P48465</li><li>P53455</li><li>Q4YU79</li><li>P53456</li><li>Q39596</li><li>P26182</li><li>Q39758</li><li>P80709</li><li>Q03341</li><li>Q9UVX4</li><li>P78711</li><li>P53689</li><li>O17320</li><li>P30161</li><li>P17128</li><li>P27132</li><li>P45521</li><li>P45520</li><li>P20904</li><li>P81085</li><li>Q6TCF2</li><li>Q99023</li><li>Q75D00</li><li>P32392</li><li>P51775</li><li>P10365</li><li>P10984</li><li>P60011</li><li>P60010</li><li>P26197</li><li>Q8SWN8</li><li>O16808</li><li>P30163</li><li>P02577</li><li>Q9Y896</li><li>P30165</li><li>Q7RPB4</li><li>P10989</li><li>P68555</li><li>Q05214</li><li>Q8X119</li><li>O65316</li><li>O65315</li><li>O65314</li><li>P53491</li><li>P53492</li><li>P91754</li><li>P61157</li><li>P13363</li><li>P23344</li><li>P42023</li><li>P11426</li><li>O81221</li><li>Q11212</li><li>P50138</li><li>P53471</li><li>Q9Y707</li><li>P53477</li><li>P17298</li><li>P53476</li><li>P60009</li><li>P53502</li><li>Q2U7A3</li><li>P53500</li><li>Q9UVZ8</li><li>O00937</li><li>P14235</li><li>Q9UVF3</li><li>P92176</li><li>Q8ILW9</li><li>Q24733</li><li>P90689</li><li>P24902</li><li>O74258</li><li>Q96292</li><li>O18500</li><li>P22132</li>			1
P62330	382	<ul><li>G->A at 2: Fails to associate with membranes</li></ul>						membranes	GO:0016020				1
P62487	5436	<ul><li>H->E at 14: Strongly reduces RNA-binding</li><li>E->K at 33: Strongly reduces RNA-binding</li><li>K->E at 41: Strongly reduces RNA-binding</li><li>T->A at 90: Reduces RNA-binding</li><li>N->A at 93: Reduces RNA-binding</li><li>K->E at 94: Reduces RNA-binding</li><li>F->E at 107: Reduces RNA-binding</li><li>S->A at 109: Strongly reduces RNA-binding</li><li>H->E at 111: Strongly reduces RNA-binding</li><li>R->E at 151: Strongly reduces RNA-binding</li><li>D->E at 153: Strongly reduces RNA-binding</li><li>F->A at 158: Strongly reduces RNA-binding</li></ul>				RNA-binding	GO:0003723						1
P62745	388	<ul><li>G->V at 14: No effect on internalization of EGF receptor but decreases trafficking of receptor to the lysosome with associated accumulation in late endosomes</li><li>F->G at 39: Abolishes binding to PKN1 and trafficking of EGF receptor</li><li>C->S at 189: No effect on prenylation. Reduced palmitoylation. Abolishes palmitoylation; when associated with S-192</li><li>C->S at 192: Reduced geranylgeranylation but no effect on farnesylation. Reduced palmitoylation. Abolishes palmitoylation; when associated with S-189</li><li>C->S at 193: Abolishes methylation, palmitoylation and prenylation</li><li>K->L at 194: No effect on palmitoylation or prenylation</li></ul>				binding	GO:0005488	<li>late endosomes</li><li>lysosome</li>	<li>GO:0005770</li><li>GO:0005764</li>	<li>P26224</li><li>Q9BEA0</li><li>P01132</li><li>P01133</li><li>Q16512</li><li>Q95ND4</li><li>Q00968</li><li>P07522</li>			1
P62826	5901	<ul><li>G->V at 19: Blocks DNA replication; when associated with L-69</li><li>Q->L at 69: Blocks DNA replication; when associated with V-19</li></ul>	<li>R->I at 95: in dbSNP:rs11546488</li>	DNA replication	GO:0006260							rs11546488	3
P62877	9978	<ul><li>C->A at 53: Strong reduction in ligase activity; when associated with A-56</li><li>C->A at 56: Strong reduction in ligase activity; when associated with A-53</li><li>C->A at 75: Strong reduction in ligase activity; when associated with A-77</li><li>H->A at 77: Strong reduction in ligase activity; when associated with A-75</li></ul>				ligase activity	GO:0016874						1
P62917	6132	<ul><li>H->A,G at 209: No incorporation into translating E.coli polysomes; ribosomes assembled normally. Significantly reduced translational activity</li></ul>	<li>I->V at 98: in dbSNP:rs17850886</li>					<li>ribosomes</li><li>polysomes</li>	<li>GO:0005840</li><li>GO:0005844</li>			rs17850886	3
P62937	5478	<ul><li>W->A at 121: 200-fold decrease of sensitivity to CsA</li><li>W->F at 121: 75-fold decrease of sensitivity to CsA</li></ul>											1
P62993	2885	<ul><li>P->L at 49: Ineffective in DNA synthesis. Abolishes interaction with SHB; when associated with L-206</li><li>G->R at 203: Ineffective in DNA synthesis</li><li>P->L at 206: Abolishes interaction with SHB; when associated with L-49</li></ul>								Q15464			1
P63000	5879	<ul><li>G->V at 12: Constitutively active. Interacts with PARD6 proteins</li><li>T->N at 17: Constitutively inactivated. Abolishes interaction with PARD6 proteins</li><li>F->A at 37: Strongly reduced interaction with PLCB2</li><li>W->A at 56: Strongly reduced interaction with PLCB2</li><li>Q->L at 61: Constitutively active. Interacts with PARD6 proteins</li><li>L->A at 67: Strongly reduced interaction with PLCB2</li><li>L->A at 70: Strongly reduced interaction with PLCB2</li></ul>	<li>N->D at 26: in dbSNP:rs5830</li><li>F->L at 28: in dbSNP:rs5832</li><li>A->T at 59: in dbSNP:rs5837</li><li>D->G at 63: in dbSNP:rs5831</li><li>V->G at 93: in dbSNP:rs5826</li><li>V->I at 93: in dbSNP:rs5825</li><li>T->I at 108: in dbSNP:rs5838</li><li>K->R at 130: in dbSNP:rs5828</li><li>K->E at 133: in dbSNP:rs5835</li><li>T->I at 135: in dbSNP:rs11540455</li><li>P->S at 180: in dbSNP:rs16063</li><li>V->E at 182: in dbSNP:rs5836</li>							Q00722		<li>rs5835</li><li>rs5836</li><li>rs5831</li><li>rs5828</li><li>rs5832</li><li>rs11540455</li><li>rs5826</li><li>rs5830</li><li>rs5825</li><li>rs16063</li><li>rs5837</li><li>rs5838</li>	3
P63010	163	<ul><li>R->E at 879: Strongly reduces interaction with EPN1. Reduces interaction with SNAP91 and clathrin. No effect on EPS15 binding</li><li>Y->V at 888: Strongly reduces interaction with SNAP91, EPN1 and clathrin. No effect on EPS15 binding</li><li>K->Q at 917: Strongly reduces interaction with SNAP91 and clathrin. Reduces interaction with EPN1. No effect on EPS15 binding</li></ul>				binding	GO:0005488			<li>O60641</li><li>P13506</li><li>Q9Y6I3</li><li>P42566</li>			1
P63092	2778	<ul><li>Q->A at 170: Increases GDP release but does not affect receptor-mediated activation</li><li>R->A at 258: Increases GDP release and impairs receptor-mediated activation; markedly elevated intrinsic GTPase rate which will lead to more rapid inactivation</li></ul>	<li>L->P at 99: in AHO, MIM: 103580</li><li>I->S at 106: in AHO/PHP1A, MIM: 103580</li><li>P->L at 115: in AHO, MIM: 103580</li><li>D->N at 156: in PHP1A, MIM: 103580</li><li>V->M at 159: in PHP1A, MIM: 103580</li><li>R->C at 165: in AHO, MIM: 103580</li><li>R->C at 201: in MAS and somatotrophinoma; dbSNP:rs11554273, MIM: 174800</li><li>R->G at 201: in MAS, MIM: 174800</li><li>R->H at 201: in MAS, somatotrophinoma and AIMAH, MIM: 174800</li><li>R->L at 201: in non-MAS endocrine tumors, MIM: 174800</li><li>R->S at 201: in AIMAH, pituitary tumor and polyostotic fibrous dysplasia, MIM: 219080</li><li>Q->H at 227: in pituitary adenoma; ACTH-secreting adenoma; in a patient with severe Cushing syndrome complicated by psychosis, MIM: 219080</li><li>Q->R at 227: in somatotrophinoma, MIM: 102200</li><li>R->H at 231: in AHO; impairs the ability to mediate hormonal stimulation, MIM: 103580</li><li>T->I at 242: in AHO, MIM: 103580</li><li>F->S at 246: in AHO, MIM: 103580</li><li>S->R at 250: in AHO; may alter guanine nucleotide binding which could lead to thermolability and impaired function, MIM: 103580</li><li>R->W at 258: in AHO; defective GDP binding resulting in increased thermolability and decreased activation, MIM: 103580</li><ul><li>R->A at 258: Increases GDP release and impairs receptor-mediated activation; markedly elevated intrinsic GTPase rate which will lead to more rapid inactivation</li></ul><li>E->V at 259: in AHO, MIM: 103580</li></ul><li>R->G at 280: in PHP1A, MIM: 103580</li></ul><li>R->K at 280: in PHP1A, MIM: 103580</li></ul><li>W->R at 281: in POH, MIM: 166350</li></ul><li>K->N at 338: in PHP1A, MIM: 103580</li></ul><li>A->S at 366: in AHO; paradoxical combination of AHO and testotoxicosis; constitutively activates adenylyl cyclase in vitro; accounts for the testotoxicosis phenotype; mutant form is quite stable at testis temperature; rapidly degraded at 37 degrees explaining the AHO phenotype caused by loss of Gs activity, MIM: 103580</li></ul><li>R->L at 380: in dbSNP:rs8986, MIM: 103580</li></ul><li>Missing  at 382: unable to interact with the receptor for PTH, MIM: 103580</li></ul><li>R->H at 385: in AHO; uncouples receptors from adenylyl cyclases, MIM: 103580</li></ul>			<li>nucleotide binding</li><li>GDP binding</li>	<li>GO:0000166</li><li>GO:0019003</li>			<li>P47329</li><li>Q9KGJ3</li><li>Q87A24</li><li>Q92N67</li><li>Q724K0</li><li>Q6GBY6</li><li>Q72IA8</li><li>P56077</li><li>P43524</li><li>Q5F9L4</li><li>P01201</li><li>Q63HI2</li><li>Q8E2I1</li><li>Q5FFA3</li><li>Q9KQ21</li><li>Q5ZS66</li><li>Q66AY1</li><li>P59490</li><li>Q89YZ2</li><li>Q25263</li><li>Q6YP15</li><li>Q82HE5</li><li>Q5WAD6</li><li>Q6AAC7</li><li>Q6ADQ8</li><li>Q980V1</li><li>P65867</li><li>P65868</li><li>Q9GL67</li><li>P65865</li><li>P44682</li><li>P65866</li><li>P65869</li><li>Q83HD8</li><li>Q7NQT1</li><li>Q92F62</li><li>P65863</li><li>P57820</li><li>P22923</li><li>P65864</li><li>Q8YYK4</li><li>Q8K9V3</li><li>Q5N2J4</li><li>Q9HLW6</li><li>Q64X30</li><li>Q26896</li><li>Q8DFF4</li><li>Q5PCR7</li><li>Q9AAV9</li><li>Q8E7Y8</li><li>Q73FF7</li><li>Q7N5A1</li><li>Q04618</li><li>Q63XM0</li><li>Q6GJG9</li><li>Q8CXP8</li><li>Q04617</li><li>Q8Q0M4</li><li>Q7NN75</li><li>Q6G0F9</li><li>Q8EHN5</li><li>Q81J96</li><li>Q8DJ45</li><li>Q6NI78</li><li>P78034</li><li>Q98PE2</li><li>Q27675</li><li>Q5L3U7</li><li>P00936</li><li>P23466</li><li>P68000</li><li>Q6LNA9</li><li>P68001</li><li>O28185</li><li>Q8UD97</li><li>Q9YGK2</li><li>Q9YGK4</li><li>Q92H41</li><li>Q7WNY2</li><li>O83975</li><li>Q7VUH3</li><li>Q5NGZ6</li><li>Q8R757</li><li>Q86Y79</li><li>Q7VDT7</li><li>P0A282</li><li>P0A281</li><li>P14605</li><li>Q59119</li><li>Q5P9A6</li><li>Q74FE6</li><li>Q5M222</li><li>Q9YBD6</li><li>Q65ZY7</li><li>P15318</li><li>Q5HRQ3</li><li>O84806</li><li>Q6MJR3</li><li>Q26721</li><li>Q9YGK5</li><li>Q6MS28</li><li>Q6YR64</li><li>Q7MMZ2</li><li>Q8XHJ8</li><li>Q8CQU9</li><li>Q8U0N0</li><li>Q9F8Q3</li><li>Q88Z39</li><li>P0A1A7</li><li>Q7U9I5</li><li>P0A1A8</li><li>P37470</li><li>Q9XT35</li><li>Q5V1D3</li><li>Q6G2L1</li><li>Q5P722</li><li>Q5X1N7</li><li>Q8RIJ5</li><li>Q97CB4</li><li>P08678</li><li>O85235</li><li>P40127</li><li>Q7MXK9</li><li>Q5GTI9</li><li>Q9X1W1</li><li>Q5XEM3</li><li>Q9ZJC3</li><li>Q5HIH3</li><li>Q8P327</li><li>Q67JD0</li><li>P06298</li><li>Q6D557</li><li>P06297</li><li>Q81VY9</li><li>P06299</li><li>Q8RLD7</li><li>Q60363</li><li>Q7V4V4</li><li>Q888C8</li><li>Q8DWN5</li><li>Q65PG8</li><li>Q8PNT8</li><li>Q82TQ6</li><li>P10000</li><li>Q9CD49</li><li>Q8ZEY4</li><li>Q8KD05</li><li>Q73II8</li><li>Q7UKV0</li><li>Q5NL75</li><li>Q27IM2</li><li>Q741V9</li><li>Q62FC1</li><li>P38876</li><li>Q6F240</li><li>Q91082</li><li>Q72BR1</li><li>P15743</li><li>Q8PC61</li><li>P04089</li><li>Q9PA78</li><li>Q9V108</li><li>P47714</li><li>Q5HWF9</li><li>P49606</li><li>Q8DRQ2</li><li>P11280</li><li>Q01631</li><li>Q5FMA9</li><li>Q9PII7</li><li>Q5JDB8</li><li>Q7W179</li><li>Q899I4</li><li>P49607</li><li>Q6HPW6</li><li>Q8G5I6</li><li>Q65V47</li><li>Q9AEQ5</li><li>Q8ZYM4</li><li>Q05766</li><li>P01189</li><li>P01197</li><li>Q8K8Z7</li><li>Q57506</li><li>P01196</li><li>P87352</li><li>P01194</li><li>P01193</li><li>P01192</li><li>P01191</li><li>P01190</li><li>P19402</li><li>O27732</li><li>Q03101</li><li>Q8XAP1</li><li>Q03100</li><li>Q8FBP0</li><li>Q5YPZ6</li><li>Q89DJ9</li><li>Q88PX8</li><li>Q8TV04</li><li>P01269</li><li>P59739</li><li>Q5LV91</li><li>P01268</li><li>Q9RRW3</li><li>Q976I0</li><li>Q9PR67</li><li>P01270</li><li>Q60A14</li><li>Q97TD1</li><li>P61234</li><li>P61235</li><li>P21252</li><li>Q8Y2E3</li><li>Q59685</li><li>Q5SHZ2</li><li>Q83AP0</li><li>Q9HVC3</li><li>Q57NM8</li><li>Q87RN9</li><li>Q68WD4</li><li>Q9K029</li><li>Q6AJL9</li><li>Q8D2K4</li><li>Q8F3Q2</li><li>Q8FQV6</li><li>Q9ZCV4</li><li>Q8BW00</li><li>Q72RZ0</li><li>P26338</li><li>Q83LE1</li><li>P27580</li><li>P61414</li><li>P57287</li><li>Q877G5</li><li>Q5FRT7</li><li>Q9Z6V6</li><li>Q839C0</li><li>Q5WTE7</li><li>Q59989</li><li>Q7V342</li><li>P0A7D1</li><li>P0A7D2</li><li>Q9CJI1</li><li>P0A7D3</li><li>Q6N1P9</li><li>O74806</li><li>P11885</li><li>Q83FR1</li><li>P30528</li><li>Q7VG29</li><li>Q9J5H2</li><li>Q6F8I7</li><li>Q9WXC3</li><li>O66677</li><li>Q99279</li><li>Q6KHA3</li><li>Q7M7U8</li><li>Q74LA8</li><li>Q98HV6</li><li>P40134</li><li>Q5HC85</li><li>Q99280</li><li>P40135</li><li>Q5M6L4</li><li>P40130</li><li>Q8EWQ8</li><li>P52212</li><li>Q7VMI1</li><li>P40136</li><li>Q8YAD1</li><li>P0A4Y1</li><li>P0A4Y0</li><li>Q01513</li><li>Q9JV42</li><li>O74017</li><li>Q601M5</li><li>Q9K3T8</li><li>Q97E97</li><li>Q73Q01</li><li>Q5QV03</li><li>Q9A206</li><li>Q99396</li><li>Q5GWR6</li><li>Q8TKX4</li><li>Q821W6</li>	<li>A subset of growth hormone secreting pituitary tumors (somatotrophinoma) [MIM:102200]</li><li>McCune-Albright syndrome (MAS) [MIM:174800]</li><li>Albright hereditary osteodystrophy (AHO) [MIM:103580]</li><li>Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]</li><li>Progressive osseous heteroplasia (POH) [MIM:166350]</li><li>ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]</li>	<li>rs11554273</li><li>rs8986</li>	4
P63104	7534	<ul><li>K->E at 49: Loss of interaction with NOXA1</li></ul>											1
P63165	7341	<ul><li>F->A at 36: Abolishes binding to PIAS2</li></ul>				binding	GO:0005488			O75928			1
P63279	7329	<ul><li>RK->AA at 13-14: Impairs binding to SUMO1 and catalytic activity</li><li>RK->AA at 17-18: Impairs binding to SUMO1 and catalytic activity</li><li>F->A at 22: Impairs binding to RANBP2</li><li>V->A at 25: Impairs binding to RANBP2</li><li>V->A at 27: Impairs binding to RANBP2</li><li>E->A at 42: Slightly impairs binding to RANBP2</li><li>K->A at 48: Slightly impairs binding to RANBP2</li><li>E->A at 54: Slightly impairs binding to RANBP2</li><li>L->A at 57: Impairs binding to RANBP2</li><li>K->A at 59: Impairs binding to RANBP2</li><li>R->A at 61: Slightly impairs binding to RANBP2</li><li>N->Q at 85: Impairs catalytic activity</li><li>Y->A at 87: Impairs catalytic activity</li><li>C->S at 93: Loss of enhancement of sumoylation by RWDD3. No effect on RWDD3 protein levels</li><li>DK->AA at 100-101: Impairs catalytic activity</li><li>D->A at 127: Impairs catalytic activity</li><li>D->S at 127: No effect on catalytic activity</li></ul>		sumoylation	GO:0016925	<li>binding</li><li>catalytic activity</li>	<li>GO:0005488</li><li>GO:0003824</li>			<li>Q2EF74</li><li>Q5R6J4</li><li>Q5E9D1</li><li>Q9Y3V2</li><li>P49792</li><li>P55857</li><li>P40517</li><li>P63165</li><li>P48820</li><li>Q9MZD5</li>			1
P67775	5515	<ul><li>L->A at 309: Loss of binding to PP2A B-alpha regulatory subunit</li></ul>	<li>V->A at 52: in dbSNP:rs11552681</li>			binding	GO:0005488			<li>Q06009</li><li>P23696</li><li>Q9ZSE4</li>		rs11552681	3
P67809	4904	<ul><li>S->A at 102: Loss of phosphorylation by PKB/AKT1. Inhibits translocation to the nucleus and tumor cell growth</li></ul>		phosphorylation	GO:0016310			nucleus	GO:0005634	<li>P31750</li><li>Q8INB9</li><li>Q38998</li><li>P47196</li><li>Q01314</li><li>P31749</li><li>Q8VYX2</li>			1
P78310	1525	<ul><li>VII->AID at 70-72: Abolishes binding to adenovirus type 5</li><li>CC->AA at 259-260: Loss of palmitoylation and altered localization</li><li>Y->A at 318: Affects basolateral localization in airway epithelial cells</li><li>LSRM->AAAA at 345-348: Affects basolateral localization in airway epithelial cells</li></ul>	<li>S->R at 323: in dbSNP:rs34727960</li>	localization	GO:0051179	binding	GO:0005488					rs34727960	3
P78347	2969	<ul><li>Y->F at 248: Abloishes BTK-mediated transcriptional activation. Abolishes BTK-mediated phosphorylation and impairs BTK-mediated transcriptional activation; when associated with F-398 and F-503</li><li>Y->F at 398: Abolishes BTK-mediated transcriptional activation. Abolishes BTK-mediated phosphorylation and impairs BTK-mediated transcriptional activation; when associated with F-248 and F-503</li><li>Y->F at 460: No change on BTK-mediated transcriptional activation</li><li>Y->F at 503: Impairs BTK-mediated transcriptional activation. Abolishes BTK-mediated phosphorylation and impairs BTK-mediated transcriptional activation; when associated with F-248 and F-398</li></ul>	<li>L->V at 174: in dbSNP:rs1057896</li>	phosphorylation	GO:0016310					<li>Q06187</li><li>Q8JH64</li>		rs1057896	3
P78348	41	<ul><li>S->A at 478: No effect on phosphorylation</li><li>S->A at 479: Loss of phosphorylation</li></ul>		phosphorylation	GO:0016310								1
P78363	24	<ul><li>G->D at 966: Abolishes basal and retinal-stimulated ATP hydrolysis</li><li>K->M at 969: Abolishes basal and retinal-stimulated ATP hydrolysis</li><li>G->D at 1975: Inhibition of retinal-stimulated ATP hydrolysis</li><li>K->M at 1978: Inhibition of retinal-stimulated ATP hydrolysis</li></ul>	<li>L->P at 11: in FFM, MIM: 248200</li><li>Missing  at 13-15: in STGD1, MIM: 248200</li><li>R->W at 18: in STGD1, MIM: 248200</li><li>R->H at 24: in STGD1, MIM: 248200</li><li>C->Y at 54: in STGD1, MIM: 248200</li><li>N->K at 58: in STGD1, MIM: 248200</li><li>A->E at 60: in STGD1, MIM: 248200</li><li>A->T at 60: in STGD1, MIM: 248200</li><li>A->V at 60: in STGD1: in dbSNP rsrs55732384, MIM: 248200</li><li>G->E at 65: in STGD1 and CORD3, MIM: 248200</li><li>P->L at 68: in STGD1, MIM: 248200</li><li>P->R at 68: in STGD1, MIM: 248200</li><li>G->R at 72: in STGD1, MIM: 248200</li><li>C->G at 75: in STGD1, MIM: 248200</li><li>V->E at 77: in STGD1, MIM: 248200</li><li>N->D at 96: in STGD1, MIM: 248200</li><li>N->H at 96: in STGD1, MIM: 248200</li><li>S->P at 100: in STGD1, MIM: 248200</li><li>R->Q at 152, MIM: 248200</li><li>I->V at 156: in STGD1, MIM: 248200</li><li>Q->H at 190: in STGD1, MIM: 248200</li><li>A->T at 192: in STGD1, MIM: 248200</li><li>S->R at 206: in STGD1; reduced basal and retinal-stimulated ATP-hydrolysis, MIM: 248200</li><li>R->C at 212: in STGD1 and CORD3; common mutation in southern Europe; reduced ATP-binding capacity, MIM: 248200</li><li>R->H at 212: in dbSNP:rs6657239, MIM: 248200</li><li>R->C at 220: in STGD1, MIM: 248200</li><li>T->M at 224: in a breast cancer sample; somatic mutation, MIM: 248200</li><li>C->S at 230: in STGD1, MIM: 248200</li><li>L->P at 244: in STGD1, MIM: 248200</li><li>N->S at 247: in STGD1, MIM: 248200</li><li>D->G at 249: in STGD1, MIM: 248200</li><li>T->N at 300: in STGD1, MIM: 248200</li><li>P->R at 309: in STGD1, MIM: 248200</li><li>E->V at 328: in STGD1, MIM: 248200</li><li>R->W at 333: in STGD1, MIM: 248200</li><li>S->C at 336: in STGD1, MIM: 248200</li><li>W->G at 339: in FFM, MIM: 248200</li><li>Y->D at 340: in STGD1, MIM: 248200</li><li>N->K at 380: in STGD1, MIM: 248200</li><li>A->V at 407: in STGD1 and CORD3, MIM: 248200</li><li>H->R at 423: in dbSNP:rs3112831, MIM: 248200</li><li>S->R at 445: in STGD1, MIM: 248200</li><li>E->K at 471: in ARMD2 and STGD1; ATP-binding capacity and retinal stimulation as in wild-type; dbSNP:rs1800548, MIM: 248200</li><li>D->E at 523: in STGD1, MIM: 248200</li><li>F->C at 525: in STGD1, MIM: 248200</li><li>R->C at 537: in STGD1, MIM: 248200</li><li>L->P at 541: in STGD1, FFM and CORD3; reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis, MIM: 248200</li><li>A->P at 549: in STGD1, MIM: 248200</li><li>G->R at 550: in STGD1, MIM: 248200</li><li>V->I at 552, MIM: 248200</li><li>R->P at 572: in STGD1, MIM: 248200</li><li>R->Q at 572: in STGD1, MIM: 248200</li><li>R->Q at 602: in STGD1, MIM: 248200</li><li>R->W at 602: in STGD1, MIM: 248200</li><li>G->R at 607: in STGD1, MIM: 248200</li><li>G->W at 607: in STGD1, MIM: 248200</li><li>F->I at 608: in STGD1, MIM: 248200</li><li>Q->K at 635: in STGD1, MIM: 248200</li><li>Q->H at 636: in STGD1, MIM: 248200</li><li>V->G at 643, MIM: 248200</li><li>V->M at 643: in STGD1, MIM: 248200</li><li>D->N at 645: in STGD1, MIM: 248200</li><li>R->C at 653: in STGD1, MIM: 248200</li><li>L->S at 686: in STGD1, MIM: 248200</li><li>T->M at 716: in STGD1, MIM: 248200</li><li>S->I at 752: in dbSNP:rs1801369, MIM: 248200</li><li>C->Y at 764: in STGD1, MIM: 248200</li><li>S->N at 765: in STGD1, MIM: 248200</li><li>S->R at 765: in STGD1, MIM: 248200</li><li>V->D at 767: in STGD1, MIM: 248200</li><li>L->P at 797: in STGD1, MIM: 248200</li><li>G->E at 818: in ARMD2 and STGD1; reduced ATP-binding capacity, MIM: 248200</li><li>W->R at 821: in STGD1, MIM: 248200</li><li>I->T at 824: in STGD1, MIM: 248200</li><li>D->H at 846, MIM: 248200</li><li>V->A at 849: in STGD1, MIM: 248200</li><li>G->D at 851: in STGD1; highly reduced ATP-binding capacity, MIM: 248200</li><li>A->T at 854: in STGD1, MIM: 248200</li><li>G->A at 863: in STGD1, FFM and CORD3; frequent mutation in northern Europe in linkage disequilibrium with the polymorphic variant Q-943; reduced ATP-binding capacity and retinal-stimulated ATP hydrolysis, MIM: 248200</li><li>Missing  at 863: in STGD1 and CORD3; reduced ATP-binding capacity and retinal-stimulated ATP hydrolysis, MIM: 248200</li><li>F->L at 873: in STGD1, MIM: 248200</li><li>T->I at 897: in STGD1, MIM: 248200</li><li>T->A at 901, MIM: 248200</li><li>H->R at 914, MIM: 248200</li><li>V->M at 931: in STGD1: in dbSNP rsrs58331765, MIM: 248200</li><li>V->A at 935: in STGD1, MIM: 248200</li><li>R->Q at 943: in linkage disequilibrium with A-863 in the European population; dbSNP:rs1801581, MIM: 248200</li><li>R->W at 943: in STGD1 and FFM, MIM: 248200</li><li>Q->R at 957: in STGD1, MIM: 248200</li><li>T->I at 959: in STGD1, MIM: 248200</li><li>N->S at 965: in STGD1; reduced retinal-stimulated ATP hydrolysis, MIM: 248200</li><li>T->N at 971: in STGD1; highly reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis, MIM: 248200</li><li>T->N at 972: in STGD1; could be a rare polymorphism, MIM: 248200</li><li>S->P at 974: in STGD1, MIM: 248200</li><li>G->C at 978: in STGD1, MIM: 248200</li><li>V->A at 989: in STGD1, MIM: 248200</li><li>G->R at 991: in FFM, MIM: 248200</li><li>L->R at 1014: in STGD1, MIM: 248200</li><li>T->A at 1019: in STGD1, MIM: 248200</li><li>T->M at 1019: in STGD1, MIM: 248200</li><li>E->K at 1022: in STGD1, MIM: 248200</li><li>K->E at 1031: in STGD1, MIM: 248200</li><li>E->K at 1036: in STGD1, MIM: 248200</li><li>A->V at 1038: in STGD1, FFM and CORD3; frequent mutation; reduced ATP-binding and retinal-stimulated ATP hydrolysis, MIM: 248200</li><li>R->W at 1055: in STGD1, MIM: 248200</li><li>S->P at 1063: in STGD1, MIM: 248200</li><li>S->L at 1071: in STGD1; reduced ATP-binding capacity, MIM: 248200</li><li>V->A at 1072: in STGD1, MIM: 248200</li><li>E->D at 1087: in STGD1, MIM: 248200</li><li>E->K at 1087: in STGD1, MIM: 248200</li><li>G->E at 1091: in FFM, MIM: 248200</li><li>R->C at 1097: in STGD1, MIM: 248200</li><li>R->C at 1108: in STGD1 and FFM; reduced ATP-binding capacity, MIM: 248200</li><li>R->H at 1108: in STGD1, MIM: 248200</li><li>R->L at 1108: in STGD1, MIM: 248200</li><li>T->N at 1112: in STGD1, MIM: 248200</li><li>E->K at 1122: in STGD1 and CORD3, MIM: 248200</li><li>R->C at 1129: in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine, MIM: 248200</li><li>R->L at 1129: in ARMD2, STGD1 and FFM; reduced ATP-binding capacity; dbSNP:rs1801269, MIM: 248200</li><li>K->T at 1148, MIM: 248200</li><li>L->R at 1201: in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine, MIM: 248200</li><li>D->N at 1204: in STGD1, MIM: 248200</li><li>L->P at 1250: in STGD1, MIM: 248200</li><li>T->M at 1253: in FFM; could be a rare polymorphism, MIM: 248200</li><li>R->Q at 1300: in STGD1, MIM: 248200</li><li>P->T at 1314, MIM: 248200</li><li>P->L at 1380: in STGD1; reduced ATP-binding capacity, MIM: 248200</li><li>L->P at 1388: in STGD1, MIM: 248200</li><li>E->K at 1399: in STGD1, MIM: 248200</li><li>H->Y at 1406: in STGD1, MIM: 248200</li><li>W->L at 1408: in STGD1, MIM: 248200</li><li>W->R at 1408: in STGD1; reduced retinal-stimulated ATP hydrolysis, MIM: 248200</li><li>T->M at 1428: in ARMD2; dbSNP:rs1800549, MIM: 153800</li><li>V->A at 1429: in STGD1, MIM: 248200</li><li>L->P at 1430: in STGD1, MIM: 248200</li><li>V->I at 1433: in STGD1: in dbSNP rsrs56357060, MIM: 248200</li><li>G->D at 1439: in STGD1, MIM: 248200</li><li>F->S at 1440: in STGD1, MIM: 248200</li><li>F->V at 1440: in STGD1, MIM: 248200</li><li>R->H at 1443: in STGD1, MIM: 248200</li><li>P->L at 1486: in STGD1, MIM: 248200</li><li>C->F at 1488: in STGD1, MIM: 248200</li><li>C->R at 1488: in STGD1 and FFM; reduced retinal-stimulated ATP hydrolysis, MIM: 248200</li><li>C->Y at 1488: in STGD1, MIM: 248200</li><li>C->Y at 1490: in STGD1 and CORD3; reduced retinal-stimulated ATP hydrolysis, MIM: 248200</li><li>G->C at 1508: in FFM, MIM: 248200</li><li>Q->R at 1513: in STGD1, MIM: 248200</li><li>R->S at 1517: in ARMD2; dbSNP:rs1800550, MIM: 153800</li><li>L->P at 1525: in STGD1, MIM: 248200</li><li>T->M at 1526: in STGD1; reduced retinal-stimulated ATP hydrolysis, MIM: 248200</li><li>D->N at 1532: in STGD1, MIM: 248200</li><li>T->M at 1537: in STGD1, MIM: 248200</li><li>I->T at 1562: in STGD1, FFM, ARMD2 and CORD3; dbSNP:rs1762111, MIM: 248200</li><li>G->R at 1578: in ARMD2; dbSNP:rs1800551, MIM: 153800</li><li>A->D at 1598: in CORD3, MIM: 604116</li><li>L->P at 1631: in STGD1, MIM: 248200</li><li>A->T at 1637: rare polymorphism, MIM: 248200</li><li>R->Q at 1640: in STGD1, FFM and CORD3, MIM: 248200</li><li>R->W at 1640: in STGD1 and CORD3, MIM: 248200</li><li>Y->D at 1652: in STGD1, MIM: 248200</li><li>Missing  at 1681-1685: in STGD1; highly reduced ATP-binding capacity, MIM: 248200</li><li>S->P at 1689: in STGD1, MIM: 248200</li><li>V->I at 1693: in STGD1, MIM: 248200</li><li>S->N at 1696: in STGD1, MIM: 248200</li><li>Q->K at 1703: in STGD1, MIM: 248200</li><li>R->L at 1705: in STGD1, MIM: 248200</li><li>L->P at 1729: in STGD1, MIM: 248200</li><li>M->T at 1733: in STGD1, MIM: 248200</li><li>S->P at 1736: in STGD1, MIM: 248200</li><li>G->R at 1748: in STGD1, MIM: 248200</li><li>Missing  at 1761-1763: in STGD1; highly reduced ATP-binding capacity, MIM: 248200</li><li>L->P at 1763: in STGD1, MIM: 248200</li><li>P->L at 1776: in STGD1, MIM: 248200</li><li>P->A at 1780: in STGD1, MIM: 248200</li><li>A->D at 1794: in STGD1, MIM: 248200</li><li>N->D at 1799: in STGD1, MIM: 248200</li><li>N->D at 1805: in STGD1, MIM: 248200</li><li>E->D at 1817: in dbSNP rsrs1129480, MIM: 248200</li><li>R->P at 1820: in STGD1, MIM: 248200</li><li>H->Y at 1838: in STGD1, MIM: 248200</li><li>R->W at 1843: in STGD1, MIM: 248200</li><li>I->T at 1846, MIM: 248200</li><li>N->I at 1868: slightly reduced retinal-stimulated ATP hydrolysis; dbSNP:rs1801466, MIM: 248200</li><li>V->E at 1884: in STGD1, MIM: 248200</li><li>E->K at 1885: in STGD1, MIM: 248200</li><li>G->E at 1886: in STGD1; highly reduced ATP-binding capacity, MIM: 248200</li><li>Missing  at 1890: in STGD1, MIM: 248200</li><li>V->D at 1896: in STGD1, MIM: 248200</li><li>R->H at 1898: in STGD1 and ARMD2; dbSNP:rs1800552, MIM: 248200</li><li>V->M at 1921, MIM: 248200</li><li>L->P at 1940: in STGD1 and FFM, MIM: 248200</li><li>P->L at 1948: in dbSNP rsrs56142141, MIM: 248200</li><li>G->E at 1961: in STGD1 and FFM; frequent mutation; may be associated with ARMD2; inhibition of ATP hydrolysis by retinal; dbSNP:rs1800553, MIM: 248200</li><li>L->F at 1970: in ARMD2 and FFM; dbSNP:rs1800554: in dbSNP rsrs1800554,rs28938473, MIM: 248200</li><li>L->R at 1971: in FFM; highly reduced ATP-binding capacity; abolishes basal and retinal-stimulated ATP hydrolysis, MIM: 248200</li><li>G->R at 1975: in STGD1, MIM: 248200</li><ul><li>G->D at 1975: Inhibition of retinal-stimulated ATP hydrolysis</li></ul><li>G->S at 1977: in STGD1; highly reduced ATP-binding capacity; inhibition of ATP hydrolysis by retinal, MIM: 248200</li></ul><li>L->F at 2027: in STGD1 and FFM; highly reduced ATP-binding capacity, MIM: 248200</li></ul><li>R->Q at 2030: in STGD1 and FFM, MIM: 248200</li></ul><li>L->P at 2035: in STGD1, MIM: 248200</li></ul><li>R->W at 2038: in STGD1; highly reduced ATP-binding capacity, MIM: 248200</li></ul><li>V->L at 2050: in STGD1: in dbSNP rsrs41292677, MIM: 248200</li></ul><li>G->A at 2059, MIM: 248200</li></ul><li>L->R at 2060: in CORD3, MIM: 604116</li></ul><li>Y->F at 2071: in STGD1, MIM: 248200</li></ul><li>R->G at 2077: in STGD1, MIM: 248200</li></ul><li>R->W at 2077: in STGD1; highly reduced ATP-binding capacity, MIM: 248200</li></ul><li>E->K at 2096: in STGD1; inhibition of ATP hydrolysis by retinal, MIM: 248200</li></ul><li>R->C at 2106: in STGD1 and FFM; reduced ATP-binding capacity, MIM: 248200</li></ul><li>R->C at 2107: in STGD1, MIM: 248200</li></ul><li>R->H at 2107: in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine, MIM: 248200</li></ul><li>H->R at 2128: in STGD1, MIM: 248200</li></ul><li>E->K at 2131: in STGD1, MIM: 248200</li></ul><li>R->W at 2139: in STGD1, MIM: 248200</li></ul><li>G->D at 2146: in CORD3, MIM: 604116</li></ul><li>R->L at 2149: in STGD1, MIM: 248200</li></ul><li>C->R at 2150: in STGD1, MIM: 248200</li></ul><li>C->Y at 2150: in STGD1 and CORD3, MIM: 248200</li></ul><li>K->R at 2160: in STGD1, MIM: 248200</li></ul><li>D->N at 2177: may be associated with ARMD2; increased retinal-stimulated ATP hydrolysis; dbSNP:rs1800555: in dbSNP rsrs1800555,rs56615660, MIM: 248200</li></ul><li>A->V at 2216, MIM: 248200</li></ul><li>L->P at 2229: in STGD1, MIM: 248200</li></ul><li>L->V at 2241: in STGD1, MIM: 248200</li></ul><li>S->I at 2255: in dbSNP:rs6666652, MIM: 248200</li></ul><li>R->L at 2263: in STGD1, MIM: 248200</li></ul>	ATP-hydrolysis	GO:0006200	ATP-binding	GO:0005524				<li>Cone-rod dystrophy type 3 (CORD3) [MIM:604116]</li><li>Fundus flavimaculatus (FFM) [MIM:248200]</li><li>Age-related macular degeneration type 2 (ARMD2) [MIM:153800]</li><li>Stargardt disease type 1 (STGD1) [MIM:248200]</li>	<li>rs1800553</li><li>rs56142141</li><li>rs1800552</li><li>rs1801269</li><li>rs56357060</li><li>rs1800551</li><li>rs1800550</li><li>rs1801369</li><li>rs1800555</li><li>rs56615660</li><li>rs1800554</li><li>rs58331765</li><li>rs41292677</li><li>rs28938473</li><li>rs6666652</li><li>rs1762111</li><li>rs55732384</li><li>rs6657239</li><li>rs1800548</li><li>rs1801581</li><li>rs1800549</li><li>rs3112831</li><li>rs1129480</li><li>rs1801466</li>	4
P78380	4973	<ul><li>KKAK->EEAE at 22-25: Impairs sorting into the cell surface but retains ability to bind oxLDL. Abolishes sorting into the cell surface; when associated with K-69</li><li>E->K at 70: Abolishes sorting into the cell surface; when associated with 22-E--E-25</li><li>C->S at 140: Abolishes homodimerization</li><li>C->S at 144: Abolishes sorting into the cell surface and binding to acetylated LDL (AcLDL) while increasing N-glycosylation; when associated with S-155; S-172; S-243; S-256 and S-264</li><li>W->A at 150: Abolishes binding to acetylated LDL (AcLDL), probably due to inappropriate homodimerization</li><li>C->S at 155: Abolishes sorting into the cell surface and binding to acetylated LDL (AcLDL) while increasing N-glycosylation; when associated with S-144; S-172; S-243; S-256 and S-264</li><li>C->S at 172: Abolishes sorting into the cell surface and binding to acetylated LDL (AcLDL) while increasing N-glycosylation; when associated with S-144; S-155; S-243; S-256 and S-264</li><li>N->Q at 183: Does not affect glycosylation state</li><li>Q->L at 193: Impairs binding to acetylated LDL (AcLDL); when associated with 198-AA-199</li><li>SS->AA at 198-199: Impairs binding to acetylated LDL (AcLDL); when associated with L-193</li><li>R->N at 208: Does not affect subcellular location but displays a strongly reduced affinity for acetylated LDL (AcLDL)</li><li>RN->LL at 209-210: Abolishes binding to acetylated LDL (AcLDL)</li><li>R->N at 209: Does not affect binding to acetylated LDL (AcLDL)</li><li>H->A at 226: No effect</li><li>H->Q at 226: Abolishes binding to acetylated LDL (AcLDL); when associated with N-229 and N-231</li><li>R->N at 229: Does not affect subcellular location but displays a reduced affinity for acetylated LDL (AcLDL). Abolishes binding to acetylated LDL (AcLDL); when associated with Q-226 and N-231</li><li>R->N at 231: Abolishes binding to acetylated LDL (AcLDL). Abolishes binding to AcLDL; when associated with Q-226 and N-229</li><li>SQ->AL at 235-236: Impairs binding to acetylated LDL (AcLDL); when associated with A-240</li><li>S->A at 240: Impairs binding to acetylated LDL (AcLDL); when associated with 235-AL-236</li><li>C->S at 243: Abolishes sorting into the cell surface and binding to acetylated LDL (AcLDL) while increasing N-glycosylation; when associated with S-144; S-155; S-172; S-256 and S-264</li><li>R->N at 248: Does not affect subcellular location but displays a reduced affinity for acetylated LDL (AcLDL)</li><li>C->S at 256: Abolishes sorting into the cell surface and binding to acetylated LDL (AcLDL) while increasing N-glycosylation; when associated with S-144; S-155; S-172; S-243 and S-264</li><li>C->S at 264: Abolishes sorting into the cell surface and binding to acetylated LDL (AcLDL) while increasing N-glycosylation; when associated with S-144; S-155; S-172; S-243 and S-256</li><li>Missing at 267-273: Impairs protein folding and transport</li></ul>	<li>K->N at 167: common polymorphism; myocardial infarction susceptibility; dbSNP:rs11053646</li>	<li>protein folding</li><li>transport</li>	<li>GO:0006457</li><li>GO:0006810</li>	binding	GO:0005488	cell surface	GO:0009928,GO:0009986			rs11053646	3
P78527	5591	<ul><li>L->P at 1510: Loss of interaction with C1D</li><li>EL->PD at 1516-1517: Loss of interaction with C1D</li></ul>	<li>A->S at 6: in dbSNP:rs8177999</li><li>K->N at 263: in a lung adenocarcinoma sample; somatic mutation</li><li>M->I at 333: in dbSNP:rs8178017</li><li>V->I at 420: in dbSNP rsrs55925466</li><li>G->S at 500: in a metastatic melanoma sample; somatic mutation</li><li>T->S at 605: in dbSNP:rs8178033</li><li>F->L at 649: in dbSNP rsrs55811715</li><li>I->M at 680: in dbSNP:rs8178040</li><li>P->S at 695: in dbSNP:rs8178046</li><li>N->S at 1071: in dbSNP:rs8178070</li><li>R->H at 1136: in a colorectal adenocarcinoma sample; somatic mutation</li><li>L->V at 1190: in dbSNP rsrs34598508</li><li>A->T at 1237</li><li>L->F at 1279</li><li>G->V at 1314: in dbSNP:rs8178090</li><li>R->M at 1447: in a lung squamous cell carcinoma sample; somatic mutation</li><li>D->V at 1588: in dbSNP:rs8178104</li><li>Q->H at 1603: in dbSNP:rs8178106</li><li>A->G at 1619</li><li>A->V at 1680: in a metastatic melanoma sample; somatic mutation</li><li>S->P at 2023</li><li>A->V at 2095: in dbSNP:rs8178147</li><li>R->Q at 2598</li><li>K->E at 2702: in dbSNP:rs8178178</li><li>S->N at 2810: in a metastatic melanoma sample; somatic mutation</li><li>R->C at 2899: in dbSNP:rs4278157</li><li>G->A at 2941: in a lung neuroendocrine carcinoma sample; somatic mutation</li><li>E->D at 3085</li><li>G->D at 3149: in dbSNP:rs8178208</li><li>T->S at 3198</li><li>P->S at 3201: in dbSNP:rs8178216</li><li>G->E at 3404</li><li>I->T at 3434: in dbSNP:rs7830743</li><li>N->S at 3459: in dbSNP:rs8178228</li><li>L->M at 3562: in dbSNP:rs8178232</li><li>L->F at 3584</li><li>P->L at 3702: in dbSNP:rs8178236</li><li>L->I at 3800</li><li>P->L at 3836: in dbSNP:rs8178245</li><li>M->V at 3932</li><li>G->S at 3936</li><li>V->M at 3937</li>									<li>rs8178040</li><li>rs4278157</li><li>rs8178245</li><li>rs8178236</li><li>rs55811715</li><li>rs8178228</li><li>rs55925466</li><li>rs8178216</li><li>rs8178033</li><li>rs8178046</li><li>rs8178232</li><li>rs8178208</li><li>rs8178104</li><li>rs8178106</li><li>rs8178017</li><li>rs8177999</li><li>rs7830743</li><li>rs8178090</li><li>rs8178147</li><li>rs8178070</li><li>rs8178178</li><li>rs34598508</li>	3
P78545	1999	<ul><li>RGRP->AAAA at 247-250: No effect on transcriptional repression on KRT4 promoter</li><li>W->A at 315: Partially abrogates repressive effect on the KRT4 promoter; when associated with A-319</li><li>K->A at 319: Partially abrogates repressive effect on the KRT4 promoter; when associated with A-315</li><li>RYYY->AAAA at 334-337: Partially abrogates repressive effect on the KRT4 promoter</li></ul>	<li>Q->K at 317: in dbSNP:rs1135542</li>							P19013		rs1135542	3
P78549	4913	<ul><li>K->Q at 220: Inactivates enzyme</li><li>K->R at 220: 85-fold reduction in activity</li></ul>	<li>R->W at 21: in dbSNP:rs3087469</li><li>R->K at 33: in dbSNP:rs2302172</li><li>I->T at 176: in dbSNP:rs1805378</li><li>S->L at 234: in dbSNP:rs3211977</li><li>D->Y at 239: in dbSNP:rs3087468</li>									<li>rs3211977</li><li>rs2302172</li><li>rs3087468</li><li>rs1805378</li><li>rs3087469</li>	3
P80192	4293	<ul><li>K->A at 171: Loss of kinase activity and threonine phosphorylation</li><li>T->A at 304: Reduces threonine phosphorylation. Impairs JNK activation</li><li>T->A at 305: Little effect on threonine phosphorylation. Mildly impairs JNK activation</li><li>S->A at 308: Impairs JNK activation</li><li>T->A at 312: Loss of threonine phosphorylation. Strongly impairs JNK activation</li></ul>	<li>A->V at 246: in a metastatic melanoma sample; somatic mutation</li><li>R->C at 467: in a gastric adenocarcinoma sample; somatic mutation</li><li>R->Q at 497: in dbSNP rsrs56196343</li><li>Y->C at 646: in dbSNP rsrs34322726</li>	phosphorylation	GO:0016310	kinase activity	GO:0016301			<li>Q966Y3</li><li>P92208</li>		<li>rs34322726</li><li>rs56196343</li>	3
P80365	3291	<ul><li>E->K,Q at 115: Abolishes cofactor specificity</li></ul>	<li>Missing  at 114-115: in AME; reduces enzyme activity by at least 95%</li><li>R->H at 147: in dbSNP:rs13306425</li><li>L->R at 179: in AME; abolishes enzyme activity, MIM: 218030</li><li>S->F at 180: in AME; reduces enzyme activity, MIM: 218030</li><li>R->C at 186: in AME, MIM: 218030</li><li>R->C at 208: in AME; reduces enzyme activity by at least 95%, MIM: 218030</li><li>R->H at 208: in AME; abolishes enzyme activity: in dbSNP rsrs28934592, MIM: 218030</li><li>R->C at 213: in AME; reduces enzyme activity by ca. 90%: in dbSNP rsrs28934591, MIM: 218030</li><li>P->L at 227: in hypertension; decreases affinity for cortisol, MIM: 218030</li><li>A->V at 237: in AME; reduces enzyme activity, MIM: 218030</li><li>D->N at 244: in AME; associated with R-250, MIM: 218030</li><li>LL->PS at 250-251: in AME; abolishes enzyme activity, MIM: 218030</li><li>L->R at 250: in AME; associated with N-244, MIM: 218030</li><li>R->C at 279: in AME; decreases enzyme activity by ca. 33%: in dbSNP rsrs28934594, MIM: 218030</li><li>A->V at 328: in AME; abolishes enzyme activity, MIM: 218030</li><li>RY->H at 337-338: in AME; abolishes enzyme activity, MIM: 218030</li><li>R->C at 337: in AME, MIM: 218030</li>								Apparent mineralocorticoid excess (AME) [MIM:218030]	<li>rs13306425</li><li>rs28934594</li><li>rs28934592</li><li>rs28934591</li>	3
P83876	10907	<ul><li>C->A at 38: Viable when expressed in S.pombe</li></ul>											1
P83916	10951	<ul><li>I->E at 161: Abolishes homodimer formation and binding to EMSY</li></ul>				binding	GO:0005488			Q7Z589			1
P84022	4088	<ul><li>SSVS->AAVA at 422-425: Does not abolish protein nuclear export</li><li>SSVS->RRVR at 422-425: Diminishes cargo protein export</li></ul>	<li>I->V at 170: in dbSNP:rs35874463</li><li>P->L at 393: in a colorectal cancer sample; somatic mutation</li>	nuclear export	GO:0051168							rs35874463	3
P98082	1601	<ul><li>SYF->AAA at 684-686: Greatly reduced binding to MYO6</li></ul>	<li>T->I at 586: in dbSNP:rs700241</li><li>S->N at 634: in dbSNP:rs3733801</li>			binding	GO:0005488			Q9UM54		<li>rs700241</li><li>rs3733801</li>	3
P98088	4586	<ul><li>W->A at 2122: No binding to mannose-specific lectin. Loss of secretion from the endoplasmic reticulum</li><li>D->A,E at 4302: Abolishes cleavage</li></ul>	<li>L->P at 4897: in dbSNP:rs1132436</li>	secretion	GO:0046903	binding	GO:0005488	endoplasmic reticulum	GO:0005783	P82953		rs1132436	3
P98170	331	<ul><li>Y->G at 75: Loss of interaction with MAP3K7IP1; when associated with G-75</li><li>V->A at 80: Strongly reduced interaction with MAP3K7IP1. Reduced activation of MAP3K7/TAK1. Reduced activation of NF-kappa-B</li><li>V->D at 80: Loss of interaction with MAP3K7IP1. Reduced activation of MAP3K7/TAK1. Strongly reduced activation of NF-kappa-B</li><li>V->E at 86: Loss of dimerization. Reduces activation of NF-kappa-B</li><li>S->A at 87: No effect on dimerization</li><li>S->D,E at 87: Abolishes dimerization. Interferes with ubiquitination</li><li>L->G at 98: Loss of interaction with MAP3K7IP1; when associated with G-75</li><li>L->A at 141: Reduced inhibition of caspase-3</li><li>V->A at 147: Reduced inhibition of caspase-3</li><li>D->A at 148: Abolishes inhibition of caspase-3. Reduced interaction with PRSS25; when associated with S-214</li><li>I->A at 149: Reduced inhibition of caspase-3</li><li>D->A at 151: Reduced inhibition of caspase-3</li><li>L->A at 167: Reduced inhibition of caspase-3</li><li>D->A at 196: Reduced inhibition of caspase-3. May affect protein folding and stability</li><li>D->S at 214: Reduced interaction with PRSS25. Reduced interaction with PRSS25; when associated with A-148</li><li>N->D at 259: Reduced interaction with PRSS25; when associated with S-314</li><li>W->R at 310: Reduced interaction with PRSS25; when associated with S-314</li><li>E->S at 314: Decreased interaction with SMAC and with PRSS25. Decreases interaction with PRSS25; when associated with D-259 or A-310</li><li>C->A,S at 450: Inhibits degradation of active caspase-3</li><li>H->A at 467: Loss of E3 ubiquitin-protein ligase activity</li></ul>	<li>N->S at 107: in dbSNP:rs28382721</li><li>S->F at 133: in dbSNP:rs28382722</li><li>D->E at 242: in dbSNP:rs28382723</li><li>Q->P at 423: in dbSNP:rs5956583</li>	protein folding	GO:0006457					<li>O43464</li><li>O43318</li><li>P49116</li><li>Q8RSY1</li><li>P43565</li><li>Q9NR28</li><li>Q15750</li><li>Q2QCI9</li>		<li>rs5956583</li><li>rs28382722</li><li>rs28382721</li><li>rs28382723</li>	3
P98177	4303	<ul><li>T->A at 32: Abolishes phosphorylation. Protein is located mainly in cytoplasm and shows increased transcriptional activity</li><li>S->A at 197: Abolishes phosphorylation. Protein is located mainly in cytoplasm and shows increased transcriptional activity</li><li>S->A at 262: Abolishes phosphorylation. No effect on cellular location or transcriptional activity</li></ul>		phosphorylation	GO:0016310			cytoplasm	GO:0005737				1
P98187	11283	<ul><li>G->E at 328: No effect on U-44069 and U-51605 hydroxylation. 20</li></ul>	<li>Y->F at 125: no effect on U-44069 and 9,11-diazo-prostadienoic acid : in dbSNP rsrs2072600</li><li>P->Q at 447: in dbSNP:rs2056822</li>									<li>rs2072600</li><li>rs2056822</li>	3
Q00403	2959	<ul><li>EWRTFS->AWRTFA at 51-56: Partial loss of HIV-1 Vpr binding</li><li>W->A at 52: Partial loss of HIV-1 Vpr binding</li><li>RT->AA at 53-54: Partial loss of HIV-1 Vpr binding</li><li>F->A at 55: Partial loss of HIV-1 Vpr binding</li></ul>	<li>P->S at 19: in dbSNP:rs1804499</li><li>R->Q at 132: in a colorectal cancer sample; somatic mutation</li>			binding	GO:0005488					rs1804499	3
Q00587	11135	<ul><li>DMISHPLGDFRH->A at 36-47: No binding with CDC42</li></ul>				binding	GO:0005488			<li>O94103</li><li>Q90694</li><li>O14426</li><li>P60953</li><li>P60952</li><li>Q17031</li><li>Q9HF56</li><li>P19073</li>			1
Q00604	4693	<ul><li>C->A at 95: Impairs oligomerization</li></ul>	<li>L->R at 13: in ND, MIM: 310600</li><li>L->P at 16: in ND, MIM: 310600</li><li>D->E at 23: in dbSNP:rs5952410, MIM: 310600</li><li>C->R at 39: in ND, MIM: 310600</li><li>R->K at 41: in EVR2, MIM: 305390</li><li>H->R at 42: in EVR2, MIM: 305390</li><li>Y->C at 44: in ND, MIM: 310600</li><li>K->N at 58: in EVR2, MIM: 305390</li><li>V->E at 60: in ND; reduction of protein amount in the extracellular matrix, MIM: 310600</li><li>L->F at 61: in ND, MIM: 310600</li><li>L->P at 61: in ND, MIM: 310600</li><li>A->D at 63: in ND, MIM: 310600</li><li>C->W at 65: in ND, MIM: 310600</li><li>C->Y at 65: in ND, MIM: 310600</li><li>C->S at 69: in ND, MIM: 310600</li><li>R->C at 74: in ND, MIM: 310600</li><li>S->C at 75: in ND, MIM: 310600</li><li>S->P at 75: in ND, MIM: 310600</li><li>R->P at 90: in ND, MIM: 310600</li><li>HCC->QCGL at 94-96: in ND, MIM: 310600</li><li>C->W at 96: in ND, MIM: 310600</li><li>C->Y at 96: in ND, MIM: 310600</li><li>S->F at 101: in ND, MIM: 310600</li><li>K->Q at 104: in ND, MIM: 310600</li><li>A->T at 105: in ND, MIM: 310600</li><li>C->G at 110: in ND, MIM: 310600</li><li>Y->C at 120: in EVR2, MIM: 305390</li><li>Missing  at 121-123: in ND, MIM: 305390</li><li>R->G at 121: in EVR2, MIM: 305390</li><li>R->Q at 121: in ND; reduced amount of protein in the extracellular matrix, MIM: 310600</li><li>R->W at 121: in ND, MIM: 310600</li><li>I->N at 123: in ND, MIM: 310600</li><li>L->F at 124: in EVR2; dbSNP:rs28933684, MIM: 305390</li>					extracellular matrix	GO:0005578,GO:0048196		<li>Norrie disease (ND) [MIM:310600]</li><li>Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390]</li>	<li>rs28933684</li><li>rs5952410</li>	3
Q00613	3297	<ul><li>K->R at 91: No effect on sumoylation</li><li>T->A at 120: No effect on binding HSE nor on transcriptional activity</li><li>S->A at 121: Increased binding HSE and transcriptional activity. Greatly reduced binding to HSP90AA1. No effect on MAPKAPK2 binding</li><li>S->D at 121: Some inhibition of binding HSE and transcriptional activity. No change in binding HSP90AA1. Inhibits MAPKAPK2 binding</li><li>S->A at 123: No effect on binding HSE nor on transcriptional activity</li><li>T->A at 124: No effect on binding HSE nor on transcriptional activity</li><li>K->R at 126: No effect on sumoylation</li><li>T->A at 142: Reduced promoter activity by about 90%. Almost no transcriptional activity when coexpressed with CK2</li><li>K->R at 150: No effect on sumoylation</li><li>K->R at 162: No effect on sumoylation</li><li>S->A at 230: No phosphorylation. Impaired transcriptional activity. No change in inducible DNA-binding activity</li><li>S->D at 230: Mimics phosphorylation. No effect on transcriptional activity</li><li>S->A at 275: Reduced increase in heat-induced transcriptional activity</li><li>R->A at 296: No effect on repression of transcriptional activity at control temperature</li><li>V->A at 297: Slight effect on repression of transcriptional activity at control temperature</li><li>K->A at 298: Derepression of transcriptional activity at control temperature by 18.5%</li><li>K->R at 298: Abolishes sumoylation. No effect on phosphorylation of S-303 nor of S-307. No effect on binding to HSE nor on transactivation of HSP70</li><li>E->A at 299: No effect on repression of transcriptional activity at control temperature</li><li>E->A at 300: Derepression of transcriptional activity at control temperature by 11%</li><li>S->A at 303: No phosphorylation nor sumoylation. No change in subcellular location to nuclear stress granules. Slight decrease in transcriptional activity on heat treatment. 2.5-fold increase in transcriptional activity on heat treatment; when associated with A-303</li><li>S->D at 303: Mimics phosphorylation. No effect on in vitro sumoylation. Greatly increased transcriptional activity on heat induction. 5-fold derepression of transcriptional activity at control temperature; when associated with A-307</li><li>S->A at 307: No phosphorylation. 5-fold derepression of transcriptional activity at control temperature; when associated with A-303. 1.5% increase in transcriptional activity on heat-treatment. 2.5-fold increase in transcriptional activity on heat treatment; when associated with A-303</li><li>R->A at 309: No effect on repression of transcriptional activity at control temperature</li><li>E->A at 311: No effect on repression of transcriptional activity at control temperature</li><li>S->A at 326: Significant increase in transcriptional activity. No effect on DNA binding nor on nuclear translocation</li><li>S->A at 363: No effect on sumoylation</li><li>K->R at 381: No effect on sumoylation</li><li>T->A at 527: No change in binding HSE nor on transcriptional activity. Decreased binding HSE; when associated with A-529</li><li>S->A at 529: No change in binding HSE nor on transcriptional activity. Decreased binding HSE; when associated with A-527</li></ul>		<li>phosphorylation</li><li>sumoylation</li>	<li>GO:0016310</li><li>GO:0016925</li>	<li>binding</li><li>DNA-binding</li>	<li>GO:0005488</li><li>GO:0003677</li>			<li>P27541</li><li>Q8RB68</li><li>Q73GL7</li><li>P27542</li><li>Q6AMQ3</li><li>Q8DF66</li><li>Q71ZJ7</li><li>P56836</li><li>Q7NAU6</li><li>Q3IUI0</li><li>Q8RH05</li><li>Q6B8V2</li><li>Q92260</li><li>P19993</li><li>P69377</li><li>Q892R0</li><li>Q01100</li><li>Q47HK2</li><li>Q3Z601</li><li>Q8YE76</li><li>Q9ZAD3</li><li>Q39JC8</li><li>Q9HHB9</li><li>P69376</li><li>Q5QXL1</li><li>Q5YNI0</li><li>Q818E9</li><li>P14834</li><li>O83246</li><li>Q49Y22</li><li>P30722</li><li>P16394</li><li>P30721</li><li>P75344</li><li>Q8ZIM7</li><li>Q9ZFC6</li><li>Q74IT6</li><li>P99110</li><li>Q9WYK6</li><li>Q9L7Z1</li><li>Q634M7</li><li>P96133</li><li>Q8D2Q5</li><li>P48205</li><li>P26791</li><li>Q9RY23</li><li>Q9K0N4</li><li>P09189</li><li>Q8KEP3</li><li>Q9HRY2</li><li>P48209</li><li>Q5PAB8</li><li>P46633</li><li>Q48E62</li><li>P20442</li><li>Q8NLY6</li><li>Q4A8U5</li><li>P80462</li><li>Q6F6N3</li><li>Q07437</li><li>P28608</li><li>Q87RX3</li><li>Q87BS8</li><li>Q9HV43</li><li>Q74H59</li><li>Q7MN85</li><li>O96772</li><li>Q89YW6</li><li>O69268</li><li>P41753</li><li>Q7VIE3</li><li>Q93R27</li><li>Q7VVY2</li><li>Q8CP17</li><li>Q7W519</li><li>Q3JP10</li><li>O06942</li><li>Q4JXX6</li><li>O85282</li><li>P91902</li><li>Q6G1F9</li><li>P40918</li><li>P50019</li><li>Q6F149</li><li>O87777</li><li>Q5WV15</li><li>Q493S7</li><li>Q92BN8</li><li>Q91233</li><li>O93866</li><li>P47547</li><li>Q8Z9R1</li><li>P43893</li><li>Q8K624</li><li>Q65U55</li><li>P11503</li><li>Q5H186</li><li>P0A5C0</li><li>P83709</li><li>P11501</li><li>Q01233</li><li>P94317</li><li>Q5FFM4</li><li>Q5UQ49</li><li>Q6D0B7</li><li>P0A6Y9</li><li>P0A6Y8</li><li>Q5M6D1</li><li>Q49539</li><li>Q8EHT7</li><li>Q45551</li><li>Q8PAK9</li><li>O86103</li><li>P50023</li><li>Q67S54</li><li>Q661A3</li><li>Q5X3M7</li><li>Q5NPS6</li><li>Q5M1T8</li><li>Q05981</li><li>O68191</li><li>Q8GH79</li><li>P95334</li><li>P0A3J2</li><li>P0A3J3</li><li>Q4QJW4</li><li>P0A3J0</li><li>P0A3J1</li><li>P0A3J4</li><li>P12795</li><li>Q7N8Y4</li><li>P07900</li><li>P08108</li><li>Q48RR3</li><li>Q7NXI3</li><li>Q9WWG9</li><li>Q9UXR0</li><li>P57870</li><li>Q6L0S7</li><li>P30946</li><li>P80692</li><li>Q6MB26</li><li>P95829</li><li>P59565</li><li>P0A6Z0</li><li>O06430</li><li>Q52701</li><li>Q9GKX7</li><li>Q4L6T0</li><li>P08106</li><li>P29215</li><li>Q64X01</li><li>O87384</li><li>Q3KIA0</li><li>P0A5B9</li><li>P02827</li><li>P41797</li><li>O02705</li><li>P87047</li><li>Q6G554</li><li>P05646</li><li>Q9L7P1</li><li>Q54215</li><li>Q8G6W1</li><li>Q47TI0</li><li>O33522</li><li>Q05647</li><li>P27894</li><li>Q05746</li><li>Q6MT06</li><li>O33528</li><li>P64410</li><li>Q9ZMW4</li><li>P08418</li><li>Q6GGC0</li><li>P0C0C6</li><li>Q84BU4</li><li>Q5HAY1</li><li>P37899</li><li>P49136</li><li>P49137</li><li>Q4KIH1</li><li>Q3APD2</li><li>O52064</li><li>P49139</li><li>Q9JVQ9</li><li>Q8FXX2</li><li>P05456</li><li>P26823</li><li>Q57TP3</li><li>P27094</li><li>P61443</li><li>Q24789</li><li>Q5HFI0</li><li>Q68XI2</li><li>Q72IK5</li><li>Q56235</li><li>Q4UJK7</li><li>Q97BG8</li><li>Q5HNW6</li><li>Q4AAR4</li><li>Q2SSB0</li><li>Q4FNP9</li><li>Q37106</li><li>P61442</li><li>Q3YRR6</li><li>Q5FSL5</li><li>Q5NFG7</li><li>Q6NCY4</li><li>O32464</li><li>Q6AC76</li><li>Q02028</li><li>P29133</li><li>Q9PB05</li><li>P68837</li><li>Q9ZDX9</li><li>Q66ET0</li><li>Q72DW8</li><li>Q730M1</li><li>Q3K3T2</li><li>Q32KA5</li><li>P26413</li><li>P43736</li><li>Q62HD5</li><li>Q3IYM7</li><li>P48720</li><li>Q05945</li><li>Q93GF1</li><li>Q57AD7</li><li>Q46XI7</li><li>Q9ZIV1</li><li>Q9KWS7</li><li>Q3BVB8</li><li>Q5HV33</li><li>Q3J7D8</li><li>Q9PQF2</li><li>Q9XCB1</li><li>P25840</li><li>P0C0C5</li><li>Q81LS2</li><li>Q9TLT1</li><li>Q65ZV5</li><li>Q9KD72</li><li>Q00488</li><li>Q8TQR2</li><li>Q05558</li><li>P94695</li><li>O51759</li><li>Q326K7</li><li>Q5PDJ5</li><li>O05714</li><li>Q7MA35</li><li>Q9ZEJ0</li><li>Q9LCQ5</li><li>Q5F6W5</li><li>O32482</li><li>O52960</li><li>Q8XW40</li><li>Q88VM0</li><li>Q824B2</li><li>Q4FPS9</li><li>Q6NEY9</li><li>Q7NDH1</li><li>Q85FW4</li><li>P49463</li><li>Q65H54</li><li>P81875</li><li>O05700</li><li>Q5LG30</li><li>Q5LWJ6</li><li>Q5WHG1</li><li>Q87WP0</li><li>Q3ZYV1</li><li>Q88DU2</li><li>O69298</li><li>Q5ZTY3</li><li>Q6YPM1</li><li>Q92J36</li><li>Q98QY7</li><li>Q4A658</li><li>Q8EUH7</li><li>P78983</li><li>Q8KML6</li><li>P17804</li><li>Q8CWT3</li><li>Q56073</li><li>Q3Z6P1</li><li>Q5GSE1</li><li>O27351</li><li>Q3SIN4</li><li>Q4UT11</li><li>Q3IC08</li><li>P71331</li><li>Q3AF08</li><li>Q7VQL4</li><li>P55994</li><li>Q95YL7</li><li>O87712</li><li>P11144</li><li>Q91291</li><li>P11143</li><li>P11145</li><li>Q5P1H5</li><li>Q7UM31</li><li>Q73Q16</li><li>Q8FM78</li><li>Q98DD1</li><li>O67118</li><li>Q3KLV7</li><li>Q6HDK7</li><li>Q46I76</li><li>Q835R7</li><li>Q00043</li><li>P17821</li><li>P17820</li><li>P45554</li><li>Q4ZNP7</li><li>P81341</li><li>Q313S2</li><li>P64407</li><li>O34241</li><li>P64409</li><li>Q8PMB0</li><li>Q465Y6</li><li>P64408</li><li>Q76LV2</li><li>Q9S5A4</li><li>Q38W93</li><li>Q7WGI4</li><li>Q5XAD6</li><li>Q6KIH7</li><li>Q8K9Y8</li><li>Q3SW76</li><li>P42374</li><li>Q6MNF8</li><li>Q83MH5</li><li>Q8EPW4</li><li>P42373</li><li>Q6G8Y7</li><li>Q607A5</li><li>Q3A8C2</li><li>Q5KWZ7</li>			1
Q00653	4791	<ul><li>YLL->AAA at 247-249: Two-fold reduction in heterodimerization with RelA</li><li>P->A at 399: No change in cleavage rate or products</li><li>G->A at 404: No change in cleavage rate or products</li><li>A->P at 405: No change in cleavage rate or products</li><li>Q->N at 406: No change in cleavage rate or products</li><li>S->G at 713: Loss of phosphorylation; when associated with A-715 and A-717</li><li>S->A at 715: Loss of phosphorylation; when associated with G-713 and A-717</li><li>S->A at 717: Loss of phosphorylation; when associated with G-713 and A-715</li><li>S->A at 866: Decrease in MAP3K14-induced phosphorylation; no inducible processing occurs; when associated with A-869</li><li>S->A at 870: Decrease in MAP3K14-induced phosphorylation; no inducible processing occurs; when associated with A-865</li></ul>	<li>E->K at 14: in dbSNP rsrs45581936</li><li>G->R at 351: in dbSNP rsrs45580031</li><li>A->G at 392: in dbSNP:rs11574848</li><li>G->R at 452: in dbSNP rsrs45471103</li><li>Missing  at 618-900: in truncated form EB308</li><li>AGN->SAS at 667-669: in truncated form p80HT</li><li>Missing  at 670-900: in truncated form p80HT</li><li>Missing  at 703-900: in truncated form LB40</li>	phosphorylation	GO:0016310					<li>P52560</li><li>O87331</li><li>Q99558</li><li>Q931Q4</li><li>Q99TL8</li><li>Q54089</li><li>Q8CS97</li><li>P0A0E9</li><li>P0AG22</li><li>P44644</li><li>P0AG23</li><li>P0AG20</li><li>P0AG21</li><li>Q6G8T5</li><li>P66015</li><li>O54408</li><li>P0A0F0</li><li>P66014</li><li>Q5HNR8</li><li>O52177</li><li>O85709</li><li>Q49640</li><li>P55133</li><li>Q6GG70</li>		<li>rs45580031</li><li>rs45581936</li><li>rs11574848</li><li>rs45471103</li>	3
Q00722	5330	<ul><li>Q->A at 52: Strongly reduces interaction with RAC1</li></ul>	<li>N->I at 324: in dbSNP:rs45628633</li><li>R->H at 598: in dbSNP:rs8025153</li><li>P->L at 664: in dbSNP:rs9972332</li><li>G->R at 712: in dbSNP:rs28395835</li><li>E->G at 1095: in dbSNP:rs936212</li>							<li>Q9SSX0</li><li>O04369</li><li>Q38912</li><li>P13362</li><li>P62999</li><li>P80236</li><li>P62998</li><li>P63000</li>		<li>rs45628633</li><li>rs9972332</li><li>rs936212</li><li>rs28395835</li><li>rs8025153</li>	3
Q00987	4193	<ul><li>C->S at 305: No loss of ubiquitin ligase E3 activity</li><li>C->T at 374: No loss of ubiquitin ligase E3 activity</li><li>C->L at 438: No loss of ubiquitin ligase E3 activity</li><li>C->G at 441: Fails to interact with MDM4</li><li>C->A at 449: Loss of ubiquitin ligase E3 activity</li><li>C->S at 449: No substantial decrease of ubiquitin ligase E3 activity</li><li>H->A at 452: Loss of ubiquitin ligase E3 activity</li><li>T->A at 455: Significant decrease of ubiquitin ligase E3 activity</li><li>H->S at 457: Loss of ubiquitin ligase E3 activity</li><li>C->S at 461: Loss of ubiquitin ligase E3 activity</li><li>C->A at 464: Loss of ubiquitin ligase E3 activity, enhances protein stability</li><li>C->G at 475: Loss of ubiquitin ligase E3 activity</li><li>C->R at 478: Fails to interact with MDM4</li><li>C->S at 478: Loss of ubiquitin ligase E3 activity</li></ul>								<li>P69326</li><li>P08565</li><li>P69322</li><li>P69323</li><li>P69324</li><li>P69325</li><li>P68196</li><li>O46543</li><li>P68197</li><li>Q05550</li><li>P68198</li><li>P68199</li><li>P19848</li><li>P68195</li><li>P42739</li><li>Q867C2</li><li>P62991</li><li>P62990</li><li>P61863</li><li>P61864</li><li>P61862</li><li>Q867C4</li><li>Q867C3</li><li>P23398</li><li>P68204</li><li>P84589</li><li>Q865C5</li><li>P42740</li><li>P68201</li><li>Q8MKD1</li><li>P14792</li><li>P63049</li><li>P0C072</li><li>P63051</li><li>O15151</li><li>P69308</li><li>P69309</li><li>P20685</li><li>P15174</li><li>P62976</li><li>P62977</li><li>P62974</li><li>P62975</li><li>P62972</li><li>P13117</li><li>P14624</li><li>P62973</li><li>P46574</li><li>P69310</li><li>P69313</li><li>P69314</li><li>P69311</li><li>P69312</li><li>P08618</li><li>P69317</li><li>P69318</li><li>P0C014</li><li>P69315</li><li>P69316</li><li>P59263</li><li>P69319</li><li>P49634</li><li>P49635</li><li>P22589</li><li>Q9Y848</li><li>P62988</li><li>P62989</li><li>P23324</li><li>P69321</li><li>P69320</li><li>P59669</li>			1
Q01081	7307	<ul><li>W->A at 134: Decreases affinity for UAF2 by 3 orders of magnitude</li></ul>											1
Q01094	1869	<ul><li>Y->C at 411: No retinoblastoma protein binding</li></ul>	<li>G->S at 200: in dbSNP:rs35385772</li><li>R->H at 252: in dbSNP:rs3213172</li><li>V->M at 276: in dbSNP:rs3213173</li><li>T->N at 311: in dbSNP:rs3213174</li><li>G->S at 393: in dbSNP:rs3213176</li>			protein binding	GO:0005515					<li>rs3213173</li><li>rs3213172</li><li>rs35385772</li><li>rs3213174</li><li>rs3213176</li>	3
Q01167	3607	<ul><li>K->A at 258: Decreases DNA-binding to 40%</li><li>K->A at 300: Decreases DNA-binding to 20%</li><li>S->A at 305: Decreases DNA-binding to 70%</li><li>R->A at 307: Abolishes DNA-binding</li><li>K->A at 328: Decreases DNA-binding to 25%</li></ul>				DNA-binding	GO:0003677						1
Q01196	861	<ul><li>R->A at 80: Strongly reduces DNA-binding</li><li>K->A at 83: Strongly reduces DNA-binding</li><li>T->A at 84: No effect on DNA binding</li><li>A->T at 107: Loss of heterodimerization</li><li>G->R at 108: Loss of heterodimerization</li><li>R->A at 135: Strongly reduces DNA-binding</li><li>R->A at 139: Strongly reduces DNA-binding</li><li>R->A at 142: Strongly reduces DNA-binding</li><li>Missing at 145-453: No DNA-binding</li><li>K->A at 167: Reduces DNA-binding</li><li>T->A at 169: Strongly reduces DNA-binding</li><li>D->A at 171: Strongly reduces DNA-binding</li><li>R->A at 174: Strongly reduces DNA-binding</li><li>R->A at 177: Strongly reduces DNA-binding</li></ul>	<li>R->Q at 139: in FPDMM, MIM: 601399</li><ul><li>R->A at 139: Strongly reduces DNA-binding</li></ul><li>R->Q at 174: in FPDMM, MIM: 601399</li><ul><li>R->A at 174: Strongly reduces DNA-binding</li></ul><li>S->R at 431: in dbSNP:rs1055308, MIM: 601399</li></ul><li>S->R at 433: in dbSNP:rs1055309, MIM: 601399</li></ul>			DNA-binding	GO:0003677				Familial platelet disorder with associated myeloid malignancy (FPDMM) [MIM:601399]	<li>rs1055309</li><li>rs1055308</li>	4
Q01581	3157	<ul><li>C->A,S at 129: Loss of activity</li></ul>											1
Q01892	6689	<ul><li>S->A at 144: Reduces interaction with IRF4 and transcriptional activation</li><li>K->G at 242: Abrogates DNA-binding</li></ul>				DNA-binding	GO:0003677			Q15306			1
Q01954	646	<ul><li>S->A at 537: No effect on phosphorylation. Abolishes phosphorylation and induces nuclear restriction; when associated to A-541</li><li>S->D at 537: Reduces phosphorylation and induces partial relocation into the cytoplasm</li><li>S->D at 540: No effect on phosphorylation, no effect on subcellular location</li><li>S->A at 541: Strongly reduces phosphorylation. Abolishes phosphorylation and induces nuclear restriction; when associated to A-537</li><li>S->D at 541: Strongly reduces phosphorylation and induces partial relocation into the cytoplasm</li></ul>		phosphorylation	GO:0016310			cytoplasm	GO:0005737				1
Q02156	5581	<ul><li>K->W at 437: Abolishes activity and S-729 phosphorylation</li><li>T->A at 566: Abolishes phosphorylation by PDK1, and S-729 phosphorylation</li><li>T->E at 566: No effect on S-729 phosphorylation</li><li>T->E at 710: No effect on activity; no effect on S-729 phosphorylation</li><li>S->A at 729: Enhances T-566 dephosphorylation</li></ul>	<li>E->K at 143: in a colorectal cancer sample; somatic mutation</li><li>A->V at 333: in dbSNP rsrs55989965</li><li>P->R at 389: in dbSNP rsrs55767130</li><li>T->M at 563: in dbSNP:rs34077350</li><li>A->T at 654: in dbSNP:rs35777875</li>	<li>phosphorylation</li><li>dephosphorylation</li>	<li>GO:0016310</li><li>GO:0016311</li>					<li>Q15118</li><li>O15530</li><li>Q9W0V1</li>		<li>rs55767130</li><li>rs55989965</li><li>rs35777875</li><li>rs34077350</li>	3
Q02410	320	<ul><li>F->V at 608: Diminishes interaction with APP</li></ul>	<li>S->A at 184: in dbSNP:rs34788368</li>							<li>Q60495</li><li>P0A3Z4</li><li>Q28280</li><li>O73683</li><li>P0A3Z2</li><li>P75313</li><li>P79307</li><li>P08592</li><li>P0A3Z3</li><li>P0A3Z1</li><li>Q28757</li><li>P05067</li><li>P29216</li><li>Q28748</li><li>Q28053</li><li>Q5IS80</li><li>P47566</li><li>O93279</li><li>P12023</li><li>Q11207</li><li>P53601</li><li>Q95241</li><li>Q29149</li>		rs34788368	3
Q02750	5604	<ul><li>K->R at 97: Inactivation</li><li>S->A at 150: No loss of activity</li><li>S->A at 212: No loss of activity</li><li>S->A at 218: Inactivation</li><li>S->A at 222: Inactivation</li></ul>	<li>F->S at 53: in CFC syndrome, MIM: 115150</li><li>Y->C at 130: in CFC syndrome, MIM: 115150</li>								Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]		3
Q02809	5351	<ul><li>C->A at 369: Loss of activity</li></ul>	<li>E->D at 67: in dbSNP:rs7551068</li><li>A->T at 84: in dbSNP:rs34878020</li><li>A->T at 99: in dbSNP:rs7551175</li><li>A->S at 120: in dbSNP:rs2273285</li><li>Q->H at 123: in a breast cancer sample; somatic mutation</li><li>Missing  at 367-371: in EDS6</li><li>W->G at 446: in EDS6, MIM: 225400</li><li>Missing  at 532: in EDS6, MIM: 225400</li><li>W->C at 612: in EDS6, MIM: 225400</li><li>A->T at 667: in EDS6, MIM: 225400</li><li>G->R at 678: in EDS6, MIM: 225400</li><li>H->R at 706: in EDS6, MIM: 225400</li>								Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400]	<li>rs7551068</li><li>rs7551175</li><li>rs2273285</li><li>rs34878020</li>	3
Q02928	1579	<ul><li>G->S at 130: Loss of activity</li><li>E->A at 321: Loss of covalent heme binding</li></ul>	<li>N->S at 226: in dbSNP:rs12759923</li><li>S->G at 353</li><li>F->S at 434: associated with hypertension; significantly reduced arachidonic acid and lauric acid metabolizing activity; dbSNP:rs1126742</li><li>NGIHLRLRRLPNPCE at 500-519: in CYP4A11V</li>			heme binding	GO:0020037					<li>rs1126742</li><li>rs12759923</li>	3
Q03393	5805	<ul><li>S->A at 19: Decrease in activity; abolishes phosphorylation by PKG</li></ul>	<li>R->C at 16: in HPA; severe decrease in activity; diminishes phosphorylation by PKG, MIM: 261640</li><li>R->G at 25: in HPA; severe form, MIM: 261640</li><li>R->Q at 25: in HPA; abolishes activity; no effect on phosphorylation by PKG, MIM: 261640</li><li>E->G at 35: in HPA, MIM: 261640</li><li>N->K at 36: in HPA, MIM: 261640</li><li>N->D at 47: in HPA; transient; total loss of activity, MIM: 261640</li><li>N->S at 52: in HPA; severe form; common in Chinese population, MIM: 261640</li><li>V->M at 56: in HPA; mild form, MIM: 261640</li><li>Missing  at 57: in HPA, MIM: 261640</li><li>T->M at 67: in HPA, MIM: 261640</li><li>V->D at 70: in HPA, MIM: 261640</li><li>P->L at 87: in HPA, MIM: 261640</li><li>P->S at 87: in HPA; severe form; common in Chinese population, MIM: 261640</li><li>D->N at 96: in HPA; severe form, MIM: 261640</li><li>F->V at 100: in HPA, MIM: 261640</li><li>T->M at 106: in HPA, MIM: 261640</li><li>I->V at 114: in HPA, MIM: 261640</li><li>D->G at 116: in HPA; mild form, MIM: 261640</li><li>K->E at 129: in HPA, MIM: 261640</li><li>D->V at 136: in HPA, MIM: 261640</li>	phosphorylation	GO:0016310	PKG	GO:0004692			<li>O82030</li><li>Q9FEW2</li><li>Q9Y251</li><li>Q90YK5</li>	Hyperphenylalaninemia (HPA) [MIM:261640]		3
Q03721	3749	<ul><li>S->A at 8: Decreased inhibition of channel closure by PKC. Inhibition of channel closure is nearly abolished; when associated with A-9</li><li>S->D at 8: Decreased rate of channel inactivation. Loss of channel inactivation; when associated with D-9; D-15 and D-21</li><li>S->A at 9: Strong decrease of inhibition of channel closure by PKC. Inhibition of channel closure is nearly abolished; when associated with A-8</li><li>S->D at 9: Decreased rate of channel inactivation. Loss of channel inactivation; when associated with D-8; D-15 and D-21</li><li>S->A at 15: Decreased inhibition of channel closure by PKC</li><li>S->D at 15: Slightly decreased rate of channel inactivation. Loss of channel inactivation; when associated with D-8; D-9 and D-21</li><li>S->A at 21: Decreased inhibition of channel closure by PKC</li><li>S->D at 21: Slightly decreased rate of channel inactivation. Loss of channel inactivation; when associated with D-8; D-9 and D-15</li></ul>	<li>D->Y at 318: in dbSNP:rs35167146</li><li>C->Y at 520: in dbSNP:rs12411176</li>							<li>P13678</li><li>P05130</li><li>P13677</li><li>P34722</li>		<li>rs35167146</li><li>rs12411176</li>	3
Q03933	3298	<ul><li>R->G at 109: Fails to translocate to nucleus</li><li>RKR->ASS at 196-198: Fails to translocate to nucleus</li></ul>						nucleus	GO:0005634				1
Q04206	5970	<ul><li>T->A at 254: Abolishes interaction with PIN1</li><li>S->C at 276: Loss of phosphorylation</li></ul>		phosphorylation	GO:0016310					<li>Q5BIN5</li><li>Q94G00</li><li>Q9SL42</li><li>Q4R383</li><li>Q13526</li><li>Q9C6B8</li><li>Q5SMQ9</li><li>P22696</li>			1
Q04609	2346	<ul><li>N->A at 51: Loss of glycosylation. Reduces enzyme activity</li><li>N->A at 76: Loss of glycosylation. Reduces enzyme activity</li><li>N->A at 121: Loss of glycosylation. Severely reduced enzyme activity</li><li>N->A at 140: Loss of glycosylation. Severely reduced enzyme activity</li><li>N->A at 153: Loss of glycosylation. Severely reduced enzyme activity</li><li>N->A at 195: Loss of glycosylation. Severely reduced enzyme activity</li><li>N->A at 336: Loss of glycosylation. Reduces enzyme activity</li><li>H->A,G,Q at 377: Complete loss of activity</li><li>D->E,N at 379: Complete loss of activity</li><li>D->E,L at 387: Complete loss of activity</li><li>D->N at 387: No effect on enzyme activity</li><li>P->A at 388: No effect on enzyme activity</li><li>E->D at 424: Reduces enzyme activity</li><li>E->Q at 424: Reduces enzyme activity</li><li>E->Q,D at 425: Complete loss of activity</li><li>D->N,L at 453: Complete loss of activity</li><li>D->Q at 453: Reduces enzyme activity</li><li>S->A at 454: Reduces enzyme activity</li><li>N->A at 459: Loss of glycosylation. Reduces enzyme activity</li><li>N->A at 476: Loss of glycosylation. Reduces enzyme activity</li><li>N->A at 638: Loss of glycosylation. Abolishes enzyme activity</li><li>T->A at 640: Abolishes enzyme activity</li></ul>	<li>A->T at 23: in a colorectal cancer sample; somatic mutation</li><li>Y->H at 75: in dbSNP:rs202676</li><li>H->Y at 475: can be associated with lower folate and higher homocysteine levels</li><li>V->L at 627: in dbSNP:rs2988342</li>									<li>rs2988342</li><li>rs202676</li>	3
Q04637	1981	<ul><li>KRERK->AAAAA at 174-178: Loss of PABPC1 binding; when associated with 184-AAAA-187</li><li>I->A at 180: Loss of PABPC1 binding</li><li>I->A at 182: Loss of PABPC1 binding</li><li>DPNQ->AAAA at 184-187: Loss of PABPC1 binding; when associated with 174-AAAAA-178</li><li>I->A at 192: Loss of PABPC1 binding</li><li>I->A at 196: Loss of PABPC1 binding</li><li>Y->A,F at 612: Abolishes binding to EIF4E</li><li>LL->AA at 617-618: Abolishes binding to EIF4E</li><li>G->A,V,W,R,E at 682: Reduced cleavage by protease 2A from human rhinovirus 2</li><li>L->A at 769: Abolishes binding to EIF4A; when associated with A-772 and A-777</li><li>L->A at 772: Abolishes binding to EIF4A; when associated with A-769 and A-777</li><li>F->A at 777: Abolishes binding to EIF4A; when associated with A-769 and A-772</li><li>LL->AA at 843-844: Abolishes binding to EIF4A; when associated with A-852 and K-853</li><li>FE->AK at 852-853: Abolishes binding to EIF4A; when associated with A-843 and A-844</li><li>L->A at 897: Abolishes binding to EIF4A; when associated with A-903 and A-906</li><li>I->A at 903: Abolishes binding to EIF4A; when associated with A-897 and A-906</li><li>L->A at 906: Abolishes binding to EIF4A; when associated with A-897 and A-903</li><li>R->A at 975: Abolishes binding to EIF4A; when associated with A-978</li><li>F->A at 978: Abolishes binding to EIF4A; when associated with A-975</li><li>L->A at 986: Slightly reduced binding to EIF4A; when associated with A-991</li><li>W->A at 991: Slightly reduced binding to EIF4A; when associated with A-986</li></ul>	<li>P->L at 696: in a colorectal cancer sample; somatic mutation</li>			binding	GO:0005488			<li>P19028</li><li>P24107</li><li>Q9QBZ5</li><li>Q9QBZ1</li><li>P15833</li><li>Q79666</li><li>P18042</li><li>P03362</li><li>P03363</li><li>P04024</li><li>Q8AII1</li><li>P04023</li><li>O93215</li><li>P10978</li><li>P26810</li><li>Q1A249</li><li>P03356</li><li>P03355</li><li>O41798</li><li>P20892</li><li>Q9Y6I0</li><li>P10210</li><li>Q9PW28</li><li>Q9QBY3</li><li>P03353</li><li>P16901</li><li>P11940</li><li>Q74120</li><li>Q09SZ9</li><li>Q89928</li><li>Q73368</li><li>P63074</li><li>P84454</li><li>Q9WC63</li><li>P20825</li><li>Q9IDV9</li><li>P0C211</li><li>P51518</li><li>P0C210</li><li>Q4U0X6</li><li>Q02748</li><li>P12451</li><li>P07570</li><li>P28936</li><li>O89940</li><li>P24740</li><li>P26809</li><li>P26808</li><li>Q0R5R3</li><li>Q0R5R2</li><li>P18802</li><li>P10394</li><li>P19561</li><li>P16423</li><li>P63119</li><li>P63073</li><li>P19560</li><li>Q75002</li><li>Q9N0T5</li><li>P29338</li><li>P04589</li><li>P04587</li><li>P48598</li><li>P04588</li><li>Q9QSR3</li><li>O91080</li><li>P16046</li><li>P17757</li><li>P12497</li><li>P12499</li><li>P12498</li><li>P03311</li><li>P61286</li><li>P20875</li><li>P20876</li><li>P10273</li><li>Q9WC54</li><li>P10272</li><li>P10271</li><li>P10270</li><li>P19199</li><li>P05962</li><li>P18096</li><li>P10265</li><li>P04584</li><li>P11227</li><li>P04585</li><li>Q76634</li><li>Q8I7P9</li><li>Q9Q720</li><li>P14078</li><li>P31822</li><li>P11365</li><li>Q5UQG4</li><li>P35963</li><li>P14074</li><li>P05959</li><li>P63131</li><li>P04323</li><li>P10274</li><li>P21407</li><li>P35956</li><li>O89290</li><li>P05960</li><li>P05961</li><li>Q1A267</li><li>P07260</li><li>P63122</li><li>P63123</li><li>Q9P974</li><li>P63124</li><li>Q9P975</li><li>P63125</li><li>P63120</li><li>P63121</li><li>P03366</li><li>P03367</li><li>Q75AV8</li><li>P03369</li><li>P63127</li><li>P63128</li><li>P63129</li><li>P06730</li><li>P03370</li><li>Q77373</li><li>P27502</li><li>P48597</li><li>P21414</li><li>O77210</li>			3
Q04656	538	<ul><li>LL->AA at 1487-1488: Loss of relocalization to the trans-Golgi</li></ul>	<li>A->P at 629: in MNKD, MIM: 309400</li><li>S->L at 637: in OHS: in dbSNP rsrs28936068, MIM: 304150</li><li>I->T at 669: in dbSNP:rs2234935, MIM: 304150</li><li>R->H at 703: in dbSNP:rs2234936, MIM: 304150</li><li>L->R at 706: in MNKD, MIM: 309400</li><li>G->R at 727: in MNKD, MIM: 309400</li><li>V->L at 767: in dbSNP:rs2227291, MIM: 309400</li><li>R->H at 844: in MNKD, MIM: 309400</li><li>G->R at 853: in MNKD, MIM: 309400</li><li>G->V at 860: in MNKD, MIM: 309400</li><li>L->R at 873: in MNKD, MIM: 309400</li><li>G->E at 876: in MNKD, MIM: 309400</li><li>G->R at 876: in MNKD, MIM: 309400</li><li>Q->R at 924: in MNKD, MIM: 309400</li><li>C->R at 1000: in MNKD, MIM: 309400</li><li>L->P at 1006: in MNKD, MIM: 309400</li><li>A->V at 1007: in MNKD, MIM: 309400</li><li>G->D at 1015: in MNKD, MIM: 309400</li><li>G->D at 1019: in MNKD, MIM: 309400</li><li>D->G at 1044: in MNKD, MIM: 309400</li><li>L->P at 1100: in MNKD, MIM: 309400</li><li>G->D at 1118: in MNKD, MIM: 309400</li><li>G->R at 1255: in MNKD, MIM: 309400</li><li>K->E at 1282: in MNKD, MIM: 309400</li><li>G->E at 1300: in MNKD, MIM: 309400</li><li>G->R at 1302: in MNKD, MIM: 309400</li><li>G->V at 1302: in MNKD, MIM: 309400</li><li>N->K at 1304: in MNKD, MIM: 309400</li><li>D->A at 1305: in MNKD, MIM: 309400</li><li>G->R at 1315: in MNKD, MIM: 309400</li><li>A->V at 1325: in MNKD, MIM: 309400</li><li>S->R at 1344: in MNKD, MIM: 309400</li><li>I->F at 1345: in MNKD, MIM: 309400</li><li>A->V at 1362: in MNKD, MIM: 309400</li><li>G->R at 1369: in MNKD, MIM: 309400</li><li>S->F at 1397: in MNKD, MIM: 309400</li><li>I->V at 1464: in dbSNP:rs2234938, MIM: 309400</li>								<li>Menkes disease (MNKD) [MIM:309400]</li><li>Occipital horn syndrome (OHS) [MIM:304150]</li>	<li>rs2234938</li><li>rs2234935</li><li>rs2227291</li><li>rs2234936</li><li>rs28936068</li>	3
Q04695	3872	<ul><li>R->A at 103: Down-regulates both proliferation of psoriatic T-cells and IFN-gamma production; suppresses keratinocyte growth when part of the altered peptide epitope S1</li><li>E->A at 106: Down-regulates proliferation of psoriatic T-cells and IFN-gamma production when part of the altered peptide epitope S1</li><li>N->A at 109: No significant effect on T-cell proliferation or IFN-gamma production when part of the altered peptide epitope S1</li><li>N->A at 154: No significant effect on T-cell proliferation but reduces IFN-gamma production when part of the altered peptide epitope S2</li><li>I->A at 155: No significant effect on T-cell proliferation but reduces IFN-gamma production when part of the altered peptide epitope S2</li><li>L->A at 157: Down-regulates proliferation of psoriatic T-cells and IFN-gamma production when part of the altered peptide epitope S2</li><li>D->A at 160: No significant effect on T-cell proliferation but reduces IFN-gamma production when part of the altered peptide epitope S4</li><li>N->A at 333: No significant effect on T-cell proliferation but reduces IFN-gamma production when part of the altered peptide epitope S4</li><li>R->A at 334: No significant effect on T-cell proliferation but can induce IFN-gamma production when part of the altered peptide epitope S2</li><li>C->A at 336: No significant effect on T-cell proliferation but reduces IFN-gamma production when part of the altered peptide epitope S2</li><li>L->A at 339: Down-regulates both proliferation of psoriatic T-cells and IFN-gamma production; suppresses keratinocyte growth when part of the altered peptide epitope S4</li></ul>	<li>M->T at 88: in PC2 and SM: in dbSNP rsrs28928898, MIM: 184500</li><li>N->D at 92: in PC2, MIM: 167210</li><li>N->H at 92: in SM: in dbSNP rsrs28928896, MIM: 184500</li><li>N->S at 92: in PC2: in dbSNP rsrs59151893, MIM: 167210</li><li>Missing  at 94-98: in PC2, MIM: 167210</li><li>R->C at 94: in PC2 and SM: in dbSNP rsrs58730926, MIM: 184500</li><li>R->H at 94: in SM: in dbSNP rsrs28928897, MIM: 184500</li><li>R->P at 94: in PC2: in dbSNP rsrs28928897, MIM: 167210</li><li>L->P at 95: in PC2: in dbSNP rsrs28928899, MIM: 167210</li><li>L->Q at 95: in PC2: in dbSNP rsrs28928899, MIM: 167210</li><li>Missing  at 97: in PC2, MIM: 167210</li><li>Y->D at 98: in PC2: in dbSNP rsrs28933088, MIM: 167210</li><li>L->P at 99: in PC2: in dbSNP rsrs28933089, MIM: 167210</li><li>V->M at 102: in PC2: in dbSNP rsrs59977263, MIM: 167210</li><li>N->D at 109: in PC2, MIM: 167210</li><ul><li>N->A at 109: No significant effect on T-cell proliferation or IFN-gamma production when part of the altered peptide epitope S1</li></ul>	T-cell proliferation	GO:0042098					<li>O35735</li><li>Q25BC0</li><li>P07353</li><li>Q9TTB0</li><li>O77763</li><li>Q2PE75</li><li>Q866Y6</li><li>P79154</li><li>Q5REC2</li><li>Q9TV67</li><li>Q865Y4</li><li>Q4ZH68</li><li>P17803</li><li>P30123</li><li>P42160</li><li>P42161</li><li>P42162</li><li>Q9QXX2</li><li>Q62574</li><li>Q7TSP4</li><li>Q9YGB9</li><li>P49708</li><li>O73915</li><li>P28333</li><li>P63309</li><li>P16519</li><li>O57608</li><li>P46402</li><li>O57603</li><li>P28341</li><li>Q9GLR0</li><li>P01579</li><li>P21661</li><li>P28841</li><li>Q865W6</li><li>P63310</li><li>Q8MKF5</li><li>P63311</li><li>O35497</li><li>O57571</li><li>Q647G2</li><li>Q865X1</li><li>Q03333</li><li>P17773</li><li>Q1WM28</li><li>P01581</li><li>Q8SPW9</li><li>P01580</li><li>Q5CCK0</li><li>Q5I6S9</li>	<li>Steatocystoma multiplex (SM) [MIM:184500]</li><li>Pachyonychia congenita type 2 (PC2) [MIM:167210]</li>	<li>rs58730926</li><li>rs28933089</li><li>rs28933088</li><li>rs28928896</li><li>rs28928897</li><li>rs28928898</li><li>rs59151893</li><li>rs59977263</li><li>rs28928899</li>	4
Q04724	7088	<ul><li>V->S at 486: Abolishes HESX1 binding</li><li>Y->H at 532: Abolishes HESX1 binding</li><li>L->S at 702: Abolishes HESX1 binding</li><li>S->P at 715: Abolishes HESX1 binding</li></ul>				binding	GO:0005488			<li>Q9UBX0</li><li>O97670</li>			1
Q04759	5588	<ul><li>T->A at 219: Loss of transactivation of the IL2 promoter and translocation to the plasma membrane. No effect on kinase activity</li><li>K->A at 409: Loss of kinase activity</li><li>T->A at 538: Loss of kinase activity</li><li>S->A at 676: Reduction in kinase activity</li><li>S->A at 695: Reduction in kinase activity</li></ul>	<li>K->N at 240: in a colorectal adenocarcinoma sample; somatic mutation</li><li>D->V at 306: in dbSNP rsrs45590231</li><li>P->L at 330: in dbSNP:rs2236379</li><li>D->N at 354: in dbSNP rsrs34524148</li>			kinase activity	GO:0016301	plasma membrane	GO:0005886	<li>P26891</li><li>Q9XT83</li><li>Q25BC3</li><li>P05016</li><li>P68290</li><li>O62641</li><li>P68291</li><li>Q9XS38</li><li>P36835</li><li>Q2PE78</li><li>Q29615</li><li>Q865X2</li><li>Q865Y1</li><li>Q7JFM4</li><li>Q7JFM3</li><li>Q07885</li><li>Q7JFM5</li><li>Q4U313</li><li>O77620</li><li>Q08081</li><li>Q7JFM2</li><li>Q9XT84</li><li>O97513</li><li>P37997</li><li>Q29416</li><li>P60568</li><li>Q95KP3</li><li>P60569</li><li>Q5PXD0</li><li>Q5MBA8</li><li>P46649</li><li>Q1WM29</li><li>Q2PE47</li><li>P19114</li><li>Q8MKH2</li><li>P51747</li>		<li>rs2236379</li><li>rs34524148</li><li>rs45590231</li>	3
Q04828	1645	<ul><li>E->D at 127: 30-fold decrease in k(cat)/K(m) value for progesterone reduction; no effect on the K(m) value</li><li>H->I at 222: Marked decrease in k(cat)/K(m) value for progesterone; 24-fold decrease for progesterone reduction; 18-fold decrease for 20alpha-OHProg oxidation. 95-fold decrease in K(m) value for NADPH</li><li>H->S at 222: Marked decrease in k(cat)/K(m) value for progesterone; 10-fold decrease for progesterone reduction; 3-fold decrease for 20alpha-OHProg oxidation. 10-fold decrease in K(m) value for NADPH</li><li>R->L at 304: 70-fold decrease in progesterone reduction. No effect on DHT reduction</li><li>Y->F at 305: No effect on progesterone reduction</li><li>T->V at 307: No effect on progesterone reduction</li><li>D->V at 309: No effect on progesterone reduction</li></ul>	<li>R->H at 170: in dbSNP:rs17295755</li><li>Q->L at 172: in dbSNP:rs17354444</li>									<li>rs17354444</li><li>rs17295755</li>	3
Q05066	100130809	<ul><li>SSS->AAA at 31-33: Abolishes its phosphorylation by PKA. Does not enhance its DNA-binding activity. Abolishes stimulation of transcription repression</li><li>R->G at 62: Strongly reduces nuclear localization. Strongly reduces nuclear localization; when associated with W-133. Reduces interaction with KPNB1. Abolishes DNA-binding</li><li>M->I at 64: Abolishes nuclear localization</li><li>R->N at 75: Strongly reduces nuclear localization. Abolishes DNA-binding. Does not reduce interaction with KPNB1 and CAML</li><li>R->P at 76: Reduces nuclear localization. Reduces DNA-binding. Does not reduce interaction with KPNB1 and CAML</li><li>K->R at 115: Does not abolish acetylation activity</li><li>K->R at 123: Does not abolish acetylation</li><li>K->R at 128: Does not abolish acetylation</li><li>R->W at 133: Reduces nuclear localization. Strongly reduces nuclear localization; when associated with G-62. Reduces interaction with KPNB1. Does not reduce interaction with CAML. Does not abolish DNA-binding</li><li>K->R at 134: Does not abolish acetylation</li><li>K->R at 136: Abolishes acetylation. Does not abolish interaction with EP300. Does not abolish DNA-binding. Enhances cytoplasmic localization. Abolishes interaction with KPNB1</li></ul>	<li>S->L at 3: in GDXY, MIM: 306100</li><li>S->N at 18: in GDXY; partial; also in two patients with a Turner syndrome phenotype, MIM: 306100</li><li>V->A at 60: in GDXY, MIM: 306100</li><li>V->L at 60: in GDXY, MIM: 306100</li><li>R->G at 62: in GDXY, MIM: 306100</li><ul><li>R->G at 62: Strongly reduces nuclear localization. Strongly reduces nuclear localization; when associated with W-133. Reduces interaction with KPNB1. Abolishes DNA-binding</li></ul><li>M->I at 64: in GDXY, MIM: 306100</li><ul><li>M->I at 64: Abolishes nuclear localization</li></ul><li>M->R at 64: in GDXY, MIM: 306100</li><ul><li>M->I at 64: Abolishes nuclear localization</li></ul><li>F->V at 67: in GDXY, MIM: 306100</li></ul><li>I->T at 68: in GDXY, MIM: 306100</li></ul><li>R->S at 76: in GDXY; XY sex reversal, MIM: 306100</li><ul><li>R->P at 76: Reduces nuclear localization. Reduces DNA-binding. Does not reduce interaction with KPNB1 and CAML</li></ul><li>M->T at 78: in GDXY, MIM: 306100</li></ul><li>N->Y at 87: in GDXY; XY sex reversal, MIM: 306100</li></ul><li>I->M at 90: in GDXY and true hermaphroditism, MIM: 235600</li></ul><li>S->G at 91: in GDXY; XY sex reversal, MIM: 306100</li></ul><li>G->E at 95: in GDXY, MIM: 306100</li></ul><li>G->R at 95: in GDXY, MIM: 306100</li></ul><li>L->H at 101: in GDXY, MIM: 306100</li></ul><li>K->I at 106: in GDXY, MIM: 306100</li></ul><li>P->R at 108: in GDXY, MIM: 306100</li></ul><li>F->S at 109: in GDXY, MIM: 306100</li></ul><li>A->T at 113: in GDXY, MIM: 306100</li></ul><li>P->L at 125: in GDXY; XY sex reversal, MIM: 306100</li></ul><li>Y->C at 127: in GDXY; XY sex reversal, MIM: 306100</li></ul><li>Y->F at 127: in GDXY, MIM: 306100</li></ul><li>P->R at 131: in GDXY; XY sex reversal, MIM: 306100</li></ul><li>R->W at 133: in GDXY, MIM: 306100</li><ul><li>R->W at 133: Reduces nuclear localization. Strongly reduces nuclear localization; when associated with G-62. Reduces interaction with KPNB1. Does not reduce interaction with CAML. Does not abolish DNA-binding</li></ul>	<li>phosphorylation</li><li>transcription</li><li>localization</li>	<li>GO:0016310</li><li>GO:0006350</li><li>GO:0051179</li>	<li>PKA</li><li>DNA-binding</li>	<li>GO:0004691</li><li>GO:0003677</li>			<li>Q14974</li><li>Q09472</li><li>P49070</li><li>P49069</li>	<li>True hermaphroditism [MIM:235600]</li><li>Gonadal dysgenesis XY female type (GDXY) [MIM:306100]</li>		4
Q05397	5747	<ul><li>V->G at 928: Loss of interaction with TGFB1I1</li><li>L->S at 1034: Loss of interaction with TGFB1I1</li></ul>	<li>H->P at 292</li><li>H->Q at 292</li><li>V->A at 793: in a glioblastoma multiforme sample; somatic mutation</li><li>D->E at 1030</li><li>K->E at 1044: in a metastatic melanoma sample; somatic mutation</li>										3
Q05513	5590	<ul><li>K->A at 19: No effect on interaction with SQSTM1 and PARD6B</li><li>D->A at 62: Loss of interaction with SQSTM1 and PARD6B</li><li>D->A at 66: Loss of interaction with SQSTM1 and PARD6B</li></ul>	<li>R->H at 49: in dbSNP:rs35271800</li><li>R->H at 84: in dbSNP rsrs56017162</li><li>S->F at 514: in a colorectal cancer sample; somatic mutation</li><li>R->C at 519: in a colorectal adenocarcinoma sample; somatic mutation</li>							<li>Q5RBA5</li><li>Q13501</li><li>Q9BYG5</li>		<li>rs35271800</li><li>rs56017162</li>	3
Q05823	6041	<ul><li>K->N at 240: Reduced 2-5A binding activity; almost complete loss of 2-5A binding activity; when associated with N-274</li><li>K->N at 274: Reduced 2-5A binding activity; almost complete loss of 2-5A binding activity; when associated with N-240</li><li>K->R at 392: Complete loss of enzymatic activity and enzyme dimerization. No change in binding to 2-5A and RNA</li><li>H->A at 583: No change in enzymatic activity</li><li>P->A at 584: No change in enzymatic activity</li><li>W->A at 632: No change in enzymatic activity</li><li>D->A at 661: Complete loss of enzymatic activity</li><li>R->A at 667: Complete loss of enzymatic activity. No change in 2-5A binding and enzyme dimerization</li><li>H->A at 672: Complete loss of enzymatic activity. No change in 2-5A binding activity and enzyme dimerization</li></ul>	<li>G->S at 59</li><li>I->L at 97: in dbSNP rsrs56250729</li><li>A->T at 289: in dbSNP rsrs35553278</li><li>S->F at 406</li><li>R->Q at 462: risk factor for prostate cancer; reduced enzymatic activity; dbSNP:rs486907</li><li>D->E at 541: no change in enzymatic activity; dbSNP:rs627928</li><li>R->H at 592: in dbSNP rsrs35896902</li>			binding	GO:0005488					<li>rs56250729</li><li>rs35896902</li><li>rs627928</li><li>rs486907</li><li>rs35553278</li>	3
Q06124	5781	<ul><li>C->S at 463: Abolishes phosphatase activity</li></ul>	<li>T->I at 2: in NS1, MIM: 163950</li><li>T->A at 42: in NS1, MIM: 163950</li><li>N->K at 58: in NS1, MIM: 163950</li><li>G->A at 60: in NS1, MIM: 163950</li><li>G->V at 60: in myelodysplastic syndrome, MIM: 163950</li><li>D->G at 61: in NS1, MIM: 163950</li><li>D->N at 61: in NS1, MIM: 163950</li><li>D->V at 61: in JMML; also in myelodysplastic syndrome, MIM: 607785</li><li>D->Y at 61: in JMML, MIM: 607785</li><li>Y->D at 62: in NS1; also in Noonan patients manifesting juvenile myelomonocytic leukemia, MIM: 163950</li><li>Y->C at 63: in NS1, MIM: 163950</li><li>E->K at 69: in JMML; also in myelodysplastic syndrome, MIM: 607785</li><li>E->Q at 69: in NS1, MIM: 163950</li><li>F->K at 71: in acute myeloid leukemia; requires 2 nucleotide substitutions, MIM: 163950</li><li>F->L at 71: in myelodysplastic syndrome, MIM: 163950</li><li>A->G at 72: in NS1, MIM: 163950</li><li>A->S at 72: in NS1, MIM: 163950</li><li>A->T at 72: in JMML, MIM: 607785</li><li>A->V at 72: in JMML, MIM: 607785</li><li>T->I at 73: in NS1; also in Noonan patients manifesting juvenile myelomonocytic leukemia: in dbSNP rsrs28933387, MIM: 163950</li><li>E->A at 76: in JMML; also in myelodysplastic syndrome, MIM: 607785</li><li>E->D at 76: in NS1, MIM: 163950</li><li>E->G at 76: in JMML, MIM: 607785</li><li>E->K at 76: in JMML: in dbSNP rsrs28933388, MIM: 607785</li><li>E->V at 76: in JMML, MIM: 607785</li><li>Q->P at 79: in NS1, MIM: 163950</li><li>Q->R at 79: in NS1, MIM: 163950</li><li>D->A at 106: in NS1, MIM: 163950</li><li>E->D at 139: in NS1, MIM: 163950</li><li>Q->R at 256: in NS1, MIM: 163950</li><li>Y->C at 279: in NS1 and LEOPARD syndrome, MIM: 163950</li><li>Y->S at 279: in LEOPARD syndrome, MIM: 151100</li><li>I->V at 282: in NS1, MIM: 163950</li><li>F->L at 285: in NS1, MIM: 163950</li><li>F->S at 285: in NS1, MIM: 163950</li><li>N->D at 308: in NS1; common mutation, MIM: 163950</li><li>N->S at 308: in NS1 and Noonan-like syndrome, MIM: 163955</li><li>I->V at 309: in NS1, MIM: 163950</li><li>T->M at 415: in NS1, MIM: 163950</li><li>A->T at 465: in LEOPARD syndrome, MIM: 151100</li><li>G->A at 468: in LEOPARD syndrome, MIM: 151100</li><li>T->M at 472: in LEOPARD syndrome, MIM: 151100</li><li>R->L at 502: in LEOPARD syndrome, MIM: 151100</li><li>R->W at 502: in LEOPARD syndrome, MIM: 151100</li><li>R->K at 505: in NS1, MIM: 163950</li><li>S->T at 506: in NS1, MIM: 163950</li><li>G->A at 507: in JMML, MIM: 607785</li><li>G->R at 507: in patients with growth retardation, pulmonic stenosis and juvenile myelomonocytic leukemia, MIM: 607785</li><li>M->V at 508: in NS1, MIM: 163950</li><li>Q->P at 510: in LEOPARD syndrome, MIM: 151100</li><li>Q->R at 510: in NS1, MIM: 163950</li><li>Q->P at 514: in LEOPARD syndrome, MIM: 151100</li><li>L->F at 564: in NS1, MIM: 163950</li>							<li>P12599</li><li>P12596</li><li>P12595</li><li>P27959</li><li>Q88A53</li><li>Q7MBF4</li><li>P12598</li><li>P12597</li><li>P27956</li><li>P27955</li><li>P27958</li><li>P27957</li><li>P30910</li><li>Q87SK9</li><li>P03494</li><li>P30911</li><li>P03495</li><li>P30912</li><li>Q81754</li><li>P03496</li><li>P27953</li><li>Q5F8K9</li><li>Q9I5V3</li><li>P27960</li><li>P27961</li><li>P27438</li><li>P29990</li><li>P29991</li><li>P0A1R9</li><li>P0A1R8</li><li>Q8P5D4</li><li>P45269</li><li>P21431</li><li>P03499</li><li>P03498</li><li>P32886</li><li>Q9YRV3</li><li>Q7MAZ9</li><li>Q5P3T0</li><li>Q5ZRX9</li><li>P24030</li><li>Q9CP21</li><li>Q82U82</li><li>P69256</li><li>P07564</li><li>Q6FA38</li><li>Q8ZLY4</li><li>Q68749</li><li>O39927</li><li>O39928</li><li>O39929</li><li>Q8PPG9</li><li>P69254</li><li>P69255</li><li>P69252</li><li>P69253</li><li>P30909</li><li>Q87DS9</li><li>O41649</li><li>P27912</li><li>P27913</li><li>P27914</li><li>P27910</li><li>P26664</li><li>P27915</li><li>P08268</li><li>Q9JZ88</li><li>Q63YC3</li><li>Q8Y395</li><li>Q6LV05</li><li>Q84056</li><li>P52681</li><li>Q90054</li><li>P69278</li><li>P69279</li><li>Q9PDL7</li><li>P03314</li><li>P69277</li><li>P08270</li><li>P69274</li><li>P69273</li><li>Q57JQ5</li><li>P11618</li><li>P08272</li><li>P69272</li><li>P69271</li><li>P08274</li><li>P69270</li><li>P08276</li><li>P08278</li><li>P27909</li><li>Q88QU2</li><li>P26148</li><li>P03500</li><li>P05769</li><li>Q81487</li><li>P26662</li><li>P03502</li><li>P26663</li><li>Q90185</li><li>P26660</li><li>P36349</li><li>P26661</li><li>Q5EG65</li><li>P27395</li><li>O56264</li><li>P12601</li><li>P08013</li><li>P12602</li><li>P12600</li><li>P33478</li><li>P36311</li><li>P24568</li><li>Q6J3P1</li><li>Q9QAX1</li><li>P14340</li><li>Q9KPC6</li><li>Q8CWL6</li><li>Q6D160</li><li>P24842</li><li>Q68798</li><li>Q65Q41</li><li>Q86306</li><li>P14336</li><li>P14335</li><li>Q5PC82</li><li>Q69422</li><li>Q9DHD6</li><li>Q821A6</li><li>P04544</li><li>Q9WMX2</li><li>O57268</li><li>P30026</li><li>Q70UV1</li><li>P0C141</li><li>P0C140</li><li>P52502</li><li>Q5WT58</li><li>P09732</li><li>P0C138</li><li>P0C136</li><li>P0C134</li><li>P18356</li><li>Q60CQ4</li><li>Q8ZI64</li><li>Q01639</li><li>Q81495</li><li>P06431</li><li>Q913D4</li><li>Q65694</li><li>P28888</li><li>O42083</li><li>Q89277</li><li>Q62EU1</li><li>O48593</li><li>P06944</li><li>Q665U9</li><li>P03134</li><li>P03133</li><li>P07296</li><li>P07298</li><li>Q074N0</li><li>P18547</li><li>P12823</li><li>Q9L7A3</li><li>Q6DV88</li><li>P06935</li><li>P13143</li><li>Q01403</li><li>P13141</li><li>Q5X1E5</li><li>P13142</li><li>Q01404</li><li>P13140</li><li>P17763</li><li>O92529</li><li>P17042</li><li>P29846</li><li>Q99IB8</li><li>P33515</li><li>P13139</li><li>P13137</li><li>Q00269</li><li>P29165</li><li>P0ACF5</li><li>P06961</li><li>P0ACF4</li><li>O91936</li><li>P0ACF7</li><li>P0ACF6</li><li>O92531</li><li>O92530</li><li>O92532</li><li>P19110</li><li>Q5E2K7</li><li>P18295</li><li>Q04538</li><li>Q8CXX6</li><li>P12592</li><li>Q68801</li><li>Q7M7K5</li><li>P12593</li><li>Q8XBL4</li><li>Q8Z3M9</li><li>Q82506</li><li>Q01299</li><li>P07720</li><li>Q81258</li><li>P09866</li><li>Q9JUB2</li><li>Q1X880</li><li>P14403</li><li>Q1X881</li><li>O71153</li><li>P07300</li><li>P29983</li><li>P29984</li><li>P12929</li><li>P22338</li><li>Q98803</li><li>P69417</li><li>P29837</li><li>Q784P6</li><li>P27454</li><li>Q5I2N3</li>	<li>LEOPARD syndrome [MIM:151100]</li><li>Juvenile myelomonocytic leukemia (JMML) [MIM:607785]</li><li>Noonan-like syndrome [MIM:163955]</li><li>Noonan syndrome 1 (NS1) [MIM:163950]</li>	<li>rs28933387</li><li>rs28933388</li>	3
Q06187	695	<ul><li>E->K at 41: No effect on phosphorylation of GTF2I</li><li>P->A at 189: No effect on phosphorylation of GTF2I</li><li>Y->F at 223: Loss of phosphorylation of GTF2I</li><li>WW->LL at 251-252: Large decrease in binding by SH3BP5</li><li>W->L at 251: No effect on phosphorylation of GTF2I</li><li>R->K at 307: Loss of phosphorylation of GTF2I</li><li>Y->F at 551: Loss of phosphorylation of GTF2I</li></ul>	<li>L->P at 11: in XLA, MIM: 300300</li><li>K->R at 12: in XLA, MIM: 300300</li><li>S->F at 14: in XLA, MIM: 300300</li><li>K->E at 19: in XLA, MIM: 300300</li><li>F->S at 25: in XLA, MIM: 300300</li><li>K->R at 27: in XLA, MIM: 300300</li><li>R->C at 28: in XLA; no effect on phosphorylation of GTF2I, MIM: 300300</li><li>R->H at 28: in XLA; moderate, MIM: 300300</li><li>R->P at 28: in XLA, MIM: 300300</li><li>T->P at 33: in XLA; severe, MIM: 300300</li><li>Y->S at 39: in XLA, MIM: 300300</li><li>Y->C at 40: in XLA, MIM: 300300</li><li>Y->N at 40: in XLA, MIM: 300300</li><li>I->N at 61: in XLA, MIM: 300300</li><li>V->D at 64: in XLA, MIM: 300300</li><li>V->F at 64: in XLA, MIM: 300300</li><li>R->K at 82: in dbSNP:rs56035945, MIM: 300300</li><li>Q->QSVFSSTR at 103: in XLA, MIM: 300300</li><li>V->D at 113: in XLA, MIM: 300300</li><li>S->F at 115: in XLA, MIM: 300300</li><li>T->P at 117: in XLA, MIM: 300300</li><li>Q->H at 127: in XLA, MIM: 300300</li><li>C->S at 154: in XLA, MIM: 300300</li><li>C->G at 155: in XLA, MIM: 300300</li><li>C->R at 155: in XLA, MIM: 300300</li><li>T->P at 184: in XLA, MIM: 300300</li><li>P->K at 190: in a lung large cell carcinoma sample; somatic mutation; requires 2 nucleotide substitutions, MIM: 300300</li><li>Missing  at 260-280: in XLA; severe, MIM: 300300</li><li>R->Q at 288: in XLA, MIM: 300300</li><li>R->W at 288: in XLA, MIM: 300300</li><li>L->P at 295: in XLA, MIM: 300300</li><li>G->E at 302: in XLA, MIM: 300300</li><li>G->R at 302: in XLA, MIM: 300300</li><li>Missing  at 302: in XLA, MIM: 300300</li><li>R->G at 307: in XLA; loss of activity, MIM: 300300</li><ul><li>R->K at 307: Loss of phosphorylation of GTF2I</li></ul><li>R->T at 307: in XLA, MIM: 300300</li><ul><li>R->K at 307: Loss of phosphorylation of GTF2I</li></ul><li>D->E at 308: in XLA, MIM: 300300</li></ul><li>V->A at 319: in XLA; moderate, MIM: 300300</li></ul><li>Y->S at 334: in XLA, MIM: 300300</li></ul><li>L->F at 358: in XLA, MIM: 300300</li></ul><li>Y->C at 361: in XLA; mild; dbSNP:rs28935478, MIM: 300300</li></ul><li>H->Q at 362: in XLA, MIM: 300300</li></ul><li>H->P at 364: in XLA, MIM: 300300</li></ul><li>N->Y at 365: in XLA, MIM: 300300</li></ul><li>S->F at 366: in XLA, MIM: 300300</li></ul><li>L->F at 369: in XLA, MIM: 300300</li></ul><li>I->M at 370: in XLA, MIM: 300300</li></ul><li>R->G at 372: in XLA, MIM: 300300</li></ul><li>L->P at 408: in XLA; moderate, MIM: 300300</li></ul><li>G->R at 414: in XLA, MIM: 300300</li></ul><li>Y->H at 418: in XLA, MIM: 300300</li></ul><li>I->N at 429: in XLA, MIM: 300300</li></ul><li>K->E at 430: in XLA; loss of phosphorylation of GTF2I, MIM: 300300</li></ul><li>K->R at 430: in XLA, MIM: 300300</li></ul><li>E->D at 445: in XLA, MIM: 300300</li></ul><li>G->D at 462: in XLA, MIM: 300300</li></ul><li>G->V at 462: in XLA, MIM: 300300</li></ul><li>Y->D at 476: in XLA, MIM: 300300</li></ul><li>M->R at 477: in XLA, MIM: 300300</li></ul><li>C->F at 502: in XLA, MIM: 300300</li></ul><li>C->W at 502: in XLA, MIM: 300300</li></ul><li>C->R at 506: in XLA, MIM: 300300</li></ul><li>C->Y at 506: in XLA, MIM: 300300</li></ul><li>A->D at 508: in XLA, MIM: 300300</li></ul><li>M->I at 509: in XLA, MIM: 300300</li></ul><li>M->V at 509: in XLA, MIM: 300300</li></ul><li>L->P at 512: in XLA, MIM: 300300</li></ul><li>L->Q at 512: in XLA, MIM: 300300</li></ul><li>L->R at 518: in XLA, MIM: 300300</li></ul><li>R->Q at 520: in XLA; severe; prevents activation due to absence of contact between the catalytic loop and the regulatory phosphorylated residue, MIM: 300300</li></ul><li>D->G at 521: in XLA, MIM: 300300</li></ul><li>D->H at 521: in XLA; severe, MIM: 300300</li></ul><li>D->N at 521: in XLA; severe, MIM: 300300</li></ul><li>A->E at 523: in XLA, MIM: 300300</li></ul><li>R->G at 525: in XLA, MIM: 300300</li></ul><li>R->P at 525: in XLA, MIM: 300300</li></ul><li>R->Q at 525: in XLA; severe; disturbs ATP-binding, MIM: 300300</li></ul><li>N->K at 526: in XLA, MIM: 300300</li></ul><li>V->F at 535: in XLA, MIM: 300300</li></ul><li>L->P at 542: in XLA; growth hormone deficiency, MIM: 300300</li></ul><li>R->G at 544: in XLA, MIM: 300300</li></ul><li>R->K at 544: in XLA, MIM: 300300</li></ul><li>F->S at 559: in XLA, MIM: 300300</li></ul><li>R->P at 562: in XLA: in dbSNP rsrs28935176, MIM: 300300</li></ul><li>R->W at 562: in XLA, MIM: 300300</li></ul><li>W->L at 563: in XLA, MIM: 300300</li></ul><li>E->K at 567: in XLA; severe, MIM: 300300</li></ul><li>S->Y at 578: in XLA, MIM: 300300</li></ul><li>W->R at 581: in XLA, MIM: 300300</li></ul><li>A->V at 582: in XLA, MIM: 300300</li></ul><li>F->S at 583: in XLA, MIM: 300300</li></ul><li>M->L at 587: in XLA; mild, MIM: 300300</li></ul><li>E->D at 589: in XLA, MIM: 300300</li></ul><li>E->G at 589: in XLA; moderate; interferes with substrate binding, MIM: 300300</li></ul><li>E->K at 589: in XLA, MIM: 300300</li></ul><li>S->P at 592: in XLA, MIM: 300300</li></ul><li>G->E at 594: in XLA; mild; interferes with substrate binding, MIM: 300300</li></ul><li>G->R at 594: in XLA, MIM: 300300</li></ul><li>Y->C at 598: in XLA, MIM: 300300</li></ul><li>A->D at 607: in XLA; mild, MIM: 300300</li></ul><li>G->D at 613: in XLA; mild; interferes with substrate binding and/or domain interactions, MIM: 300300</li></ul><li>P->A at 619: in XLA, MIM: 300300</li></ul><li>P->S at 619: in XLA, MIM: 300300</li></ul><li>P->T at 619: in XLA, MIM: 300300</li></ul><li>A->P at 622: in XLA, MIM: 300300</li></ul><li>V->G at 626: in XLA, MIM: 300300</li></ul><li>M->I at 630: polymorphism, 35%, MIM: 300300</li></ul><li>M->K at 630: in XLA, MIM: 300300</li></ul><li>M->T at 630: in XLA, MIM: 300300</li></ul><li>C->Y at 633: in XLA, MIM: 300300</li></ul><li>R->C at 641: in XLA, MIM: 300300</li></ul><li>R->H at 641: in XLA; severe, MIM: 300300</li></ul><li>F->L at 644: in XLA, MIM: 300300</li></ul><li>F->S at 644: in XLA, MIM: 300300</li></ul><li>L->P at 647: in XLA, MIM: 300300</li></ul><li>L->P at 652: in XLA, MIM: 300300</li></ul>	phosphorylation	GO:0016310	<li>binding</li><li>ATP-binding</li>	<li>GO:0005488</li><li>GO:0005524</li>			<li>O12980</li><li>Q7YQB8</li><li>P06880</li><li>P45654</li><li>Q8MI73</li><li>P45655</li><li>P08998</li><li>O93566</li><li>Q9IBE5</li><li>Q9IB11</li><li>P13391</li><li>P33711</li><li>P34747</li><li>P34746</li><li>Q9DGG5</li><li>Q01283</li><li>P10766</li><li>Q01282</li><li>Q8HYE5</li><li>O62754</li><li>P34745</li><li>P34744</li><li>P01246</li><li>Q659Q8</li><li>Q05163</li><li>P09113</li><li>P01245</li><li>P01244</li><li>Q9W6R8</li><li>Q9I9L5</li><li>P45643</li><li>P01248</li><li>Q9W6J7</li><li>P10298</li><li>P33093</li><li>P33092</li><li>Q07221</li><li>Q7YRR6</li><li>Q9PWG3</li><li>Q9W6J5</li><li>P10607</li><li>P22077</li><li>Q9JKM4</li><li>Q9GKA1</li><li>P67931</li><li>P58756</li><li>P56437</li><li>O18938</li><li>P67930</li><li>P37886</li><li>P11228</li><li>Q9I9M4</li><li>P37885</li><li>P55755</li><li>P34006</li><li>P34005</li><li>Q98UF6</li><li>P10813</li><li>P48248</li><li>P10814</li><li>P46407</li><li>P29971</li><li>P46404</li><li>Q9GL60</li><li>P24363</li><li>O60239</li><li>P07064</li><li>Q7YQD2</li><li>P01241</li><li>P20391</li><li>P20392</li><li>P19795</li><li>P87391</li><li>P69158</li><li>Q9GMB2</li><li>P08591</li><li>Q9GMB3</li><li>P79885</li><li>P69159</li><li>Q864S7</li><li>P09539</li><li>P09537</li><li>O73848</li><li>Q9DEV3</li><li>Q1HFN3</li><li>O73849</li><li>O13188</li><li>P78347</li><li>O70615</li><li>P69160</li><li>P69161</li><li>P58343</li><li>P69162</li>	X-linked agammaglobulinemia type 1 (XLA) [MIM:300300]	<li>rs28935176</li><li>rs28935478</li><li>rs56035945</li>	4
Q06413	4208	<ul><li>K->R at 116: Reduced acetylation. Further reduction in acetylation; when associated with R-119. Complete loss of acetylation, 15% less transactivation activity and slightly reduced DNA binding; when associated with R-119; R-234; R-239; R-252; R-262</li><li>K->R at 119: Reduced acetylation. Further reduction in acetylation; when associated with R-119. Complete loss of acetylation, 15% less transactivation activity and slightly reduced DNA binding; when associated with R-116; R-234; R-239; R-252; R-262</li><li>K->R at 234: Reduced acetylation. Complete loss of acetylation, 15% less transactivation activity and slightly reduced DNA binding; when associated with R-116; R-119; R-239; R-252; R-264</li><li>K->R at 239: Reduced acetylation. Complete loss of acetylation, 15% less transactivation activity and slightly reduced DNA binding; when associated with R-116; R-119; R-234; R-252; R-264</li><li>K->R at 252: Reduced acetylation. Complete loss of acetylation, 15% less transactivation activity and slightly reduced DNA binding; when associated with R-116; R-119; R-234; R-239; R-264</li><li>K->R at 264: Reduced acetylation. Complete loss of acetylation, 15% less transactivation activity and slightly reduced DNA binding; when associated with R-116; R-119; R-234; R-239; R-252</li><li>S->A at 271: No effect on transcriptional activation</li><li>E->Q at 272: Reduced transcriptional activation. Completely abolishes transcriptional activation; when associated with Asn-273 and Asn-275</li><li>D->N at 273: Reduced transcriptional activation. Completely abolishes transcriptional activation; when associated with Gln-272 and Asn-275</li><li>D->N at 275: Reduced transcriptional activation. Completely abolishes transcriptional activation; when associated with Gln-272 and Asn-273</li><li>T->A at 293: Abolishes MAPK14-mediated phosphorylation. No effect on MAPK7-mediated phosphorylation.; when associated with A-300</li><li>T->A at 300: Abolishes MAPK14-mediated phosphorylation. No effect on MAPK7-mediated phosphorylation; when associated with A-293</li><li>S->A at 387: No change in transactivational avtivation for isoforms with or without the beta domain</li><li>K->R at 391: Abolishes sumoylation</li><li>S->A,C at 396: Abolishes sumoylation. Enhanced transcriptional activity</li><li>S->A at 396: No change in transactivational avtivation for isoforms with or without the beta domain</li><li>S->E at 396: No effect on sumoylation. No effect on transcriptional activity</li><li>S->A at 419: No effect on MAPK14-mediated phosphorylation. Abolishes MAPK7-mediated phosphorylation and reduces transactivation activity</li><li>D->A at 432: Abolishes cleavage by caspase 7</li></ul>		<li>phosphorylation</li><li>sumoylation</li>	<li>GO:0016310</li><li>GO:0016925</li>	DNA binding	GO:0003677			<li>P54420</li><li>O02812</li><li>Q95NE7</li><li>O25424</li><li>Q9ZLB9</li><li>Q16539</li><li>Q13164</li><li>P06608</li>			1
Q06418	7301	<ul><li>I->R at 99: Abolishes dimerization</li></ul>	<li>P->L at 21: in dbSNP:rs17854578</li><li>I->N at 346: in dbSNP:rs12148316</li><li>G->S at 542: in dbSNP:rs17857363</li><li>A->V at 815: in dbSNP:rs1042057</li><li>L->M at 819: in dbSNP:rs17854579</li><li>R->G at 824: in dbSNP:rs17857364</li><li>A->T at 831</li>									<li>rs17854578</li><li>rs17854579</li><li>rs12148316</li><li>rs1042057</li><li>rs17857363</li><li>rs17857364</li>	3
Q06455	862	<ul><li>K->A,D at 125: Loss of interaction with TCF12</li><li>L->A at 126: Loss of interaction with TCF12</li><li>R->D at 128: Loss of interaction with TCF12</li><li>F->A at 129: Loss of interaction with TCF12</li><li>F->K at 129: Abolishes interaction with corepressor</li><li>F->A at 136: Abolishes interaction with corepressor</li><li>Q->A at 170: Abolishes interaction with corepressor</li><li>T->Q at 173: Abolishes interaction with corepressor</li><li>F->A at 175: Abolishes interaction with corepressor</li><li>L->A at 177: Abolishes interaction with corepressor</li><li>R->A,D at 178: Loss of interaction with TCF12</li><li>F->A at 184: Loss of interaction with TCF12</li><li>H->A at 547: Causes unfolding of the MYND-type zinc finger domain</li></ul>	<li>R->W at 386: in a colorectal cancer sample; somatic mutation</li><li>R->W at 395: in a colorectal cancer sample; somatic mutation</li><li>A->V at 471: in a colorectal cancer sample; somatic mutation</li>							<li>Q60420</li><li>Q99081</li><li>P30985</li><li>Q28772</li>			3
Q06547	2553	<ul><li>QQ->AA at 262-263: Minor reduction in transcriptional activation; when associated with A-295 or A-305 and A-306</li><li>VV->AA at 264-265: Minor effect upon interaction with HCFC1 and transcriptional activation. Loss of activity; when associated with A-297; A-298 and A-299, or with A-307 and A-310</li><li>QQ->AA at 270-271: Minor reduction in transcriptional activation. Moderate reduction in activity; when associated with A-305 and A-306</li><li>ITI->ATA at 273-275: Strongly reduces interaction with HCFC1 and transcriptional activation. Loss of activity; when associated with A-297; A-298 and A-299, or with A-307 and A-310</li><li>Q->A at 295: No effect on transcriptional activation. Minor reduction in activity; when associated with A-270 and A-271</li><li>IIV->AAA at 297-299: Strongly reduces interaction with HCFC1 and transcriptional activation. Loss of activity; when associated with A-264 and A-265, or A-273 and A-275</li><li>QQ->AA at 305-306: Minor reduction in transcriptional activation. Moderate reduction in activity; when associated with A-270 and A-271</li><li>VLTV->ALTA at 307-310: Moderately reduces interaction with HCFC1 and transcriptional activation. Loss of activity; when associated with A-273 and A-275</li></ul>	<li>P->A at 31: in a colorectal cancer sample; somatic mutation</li>							<li>Q5I4B8</li><li>P51611</li><li>P51610</li>			3
Q06609	5888	<ul><li>T->A at 309: Confers hypersensitivity to hydroxyurea</li></ul>	<li>R->Q at 150: in BC; familial, MIM: 114480</li>								Breast cancer (BC) [MIM:114480]		3
Q06787	2332	<ul><li>TF->AA at 125-126: Alters the structural integrity of the N-terminus and leads to aggregation</li><li>S->A at 500: Loss of phosphorylation</li><li>R->K at 544: Reduces arginine methylation by 80%</li><li>R->K at 546: Slightly reduced methylation</li></ul>	<li>A->S at 145: in dbSNP:rs29281</li><li>I->N at 304: in fragile X syndrome; alters protein folding and stability; the protein is able to bind RNA, but has reduced affinity for RNA at high salt concentrations</li><li>R->H at 546</li><ul><li>R->K at 546: Slightly reduced methylation</li></ul>	<li>phosphorylation</li><li>protein folding</li>	<li>GO:0016310</li><li>GO:0006457</li>							rs29281	4
Q06830	5052	<ul><li>T->A at 90: Abolishes phosphorylation by CDC2; 30% reduction in enzymatic activity</li><li>T->D at 90: 87% reduction in enzymatic activity</li></ul>	<li>R->G at 62: in dbSNP rsrs34034070</li>	phosphorylation	GO:0016310					<li>Q9W739</li><li>Q9DGA2</li><li>Q9DGA5</li><li>P19026</li><li>Q5RCH1</li><li>Q9DG98</li><li>P06493</li><li>P48734</li><li>P43290</li><li>P23111</li><li>P13863</li><li>Q04770</li><li>P52389</li><li>P15436</li><li>P24100</li><li>P51958</li><li>P54119</li><li>Q41639</li><li>P93101</li><li>Q9DGD3</li>		rs34034070	3
Q07812	581	<ul><li>S->D,E,H,K at 184: Constitutive cytoplasmic location</li><li>S->V at 184: Constitutive mitochondrial location</li></ul>	<li>G->E at 11: in plasmacytoma</li><li>G->R at 39: in dbSNP:rs36017265</li><li>G->R at 67: in T-cell acute lymphoblastic leukemia; loss of heterodimerization with Bcl-2 or Bcl-X</li><li>G->V at 108: in Burkitt lymphoma; loss of homodimerization</li>							<li>P49950</li><li>P10417</li>		rs36017265	3
Q07817	598	<ul><li>D->A at 61: No cleavage by caspase-1 nor by caspase-3</li><li>FRD->VRA at 131-133: No heterodimerization with BAX</li><li>VNW->AIL at 135-137: Loss of anti-apoptotic activity</li><li>GRI->ELN at 138-140: Loss of anti-apoptotic activity</li><li>G->A at 138: No heterodimerization with BAX</li><li>G->E at 148: No heterodimerization with BAX</li><li>D->A at 156: No effect on caspase-1 cleavage</li><li>D->A at 176: No effect on caspase-1 cleavage</li><li>WD->GA at 188-189: Reduces anti-apoptotic activity by about half</li><li>D->A at 189: No effect on caspase-1 cleavage</li></ul>								<li>Q07815</li><li>Q07812</li><li>Q07814</li><li>O02703</li><li>P55269</li>			1
Q07820	4170	<ul><li>K->R at 5: Reduced ubiquitination</li><li>K->R at 40: Reduced ubiquitination</li><li>D->A at 127: Abolishes formation of 28 and 17 kDa cleavage products by CASP3. Abolishes cleavage by caspase-3; when associated with A-157</li><li>K->R at 136: Reduced ubiquitination</li><li>D->A at 157: Abolishes formation of 23 and 21 kDa cleavage products by CASP3. Abolishes cleavage by caspase-3; when associated with A-127</li><li>S->A at 162: No effect</li><li>T->A at 163: Abolishes phosphorylation by MAPK. No effect on phosphorylation induced by okadaic acid or taxol</li><li>K->R at 194: Reduced ubiquitination</li><li>K->R at 197: Reduced ubiquitination</li><li>K->R at 208: No effect on ubiquitination</li><li>K->R at 234: No effect on ubiquitination</li></ul>	<li>E->D at 173: in dbSNP:rs2737820</li><li>A->V at 227: in dbSNP:rs11580946</li><li>M->L at 231</li>	phosphorylation	GO:0016310					<li>Q8MJU1</li><li>Q8MKI5</li><li>Q5IS99</li><li>Q2PFV2</li><li>O42781</li><li>Q00859</li><li>Q95ND5</li><li>Q5IS54</li><li>P27638</li><li>Q60431</li><li>Q8MJC3</li><li>P42574</li><li>Q08DY9</li>		<li>rs11580946</li><li>rs2737820</li>	3
Q07954	4035	<ul><li>T->A at 4460: Strongly reduced phosphorylation and loss of interaction with SHC1; when associated with A-4517; A-4520 and A-4523</li><li>NPTY->APTA at 4470-4473: No effect on tyrosine phosphorylation</li><li>N->A at 4470: No effect on interaction with GULP1</li><li>T->A at 4472: No detectable effect on phosphorylation</li><li>NPVY->APVA at 4504-4507: Loss of tyrosine phosphorylation. Abolishes interaction with SHC1 and GULP1</li><li>N->A at 4504: Loss of interaction with GULP1</li><li>S->A at 4517: Strongly reduced phosphorylation and loss of interaction with SHC1; when associated with A-4460; A-4520 and A-4523</li><li>S->A at 4520: Strongly reduced phosphorylation and loss of interaction with SHC1; when associated with A-4460; A-4517 and A-4523</li><li>S->A at 4523: Strongly reduced phosphorylation and loss of interaction with SHC1; when associated with A-4460; A-4517 and A-4520</li></ul>	<li>N->D at 166: in dbSNP:rs2306691</li><li>A->V at 217: in dbSNP:rs1800127</li><li>E->K at 869: in a colorectal cancer sample; somatic mutation</li><li>V->L at 2059: in dbSNP:rs2229278</li><li>D->N at 2080: in dbSNP:rs34577247</li><li>P->Q at 2900: in dbSNP:rs7397167</li><li>R->H at 3760: in a colorectal cancer sample; somatic mutation</li><li>E->G at 4536: in dbSNP:rs17357542</li>	phosphorylation	GO:0016310					P29353		<li>rs1800127</li><li>rs2229278</li><li>rs17357542</li><li>rs7397167</li><li>rs34577247</li><li>rs2306691</li>	3
Q07955	6426	<ul><li>FV->SR at 58-59: In FV1; loss of ability to activate splicing. Slight reduction in splice site switching activity and no effect on RNA-binding</li><li>FV->SR at 162-163: In FV2; loss of ability to activate splicing. Great reduction in splice site switching activity and RNA-binding</li><li>F->A at 162: In AV; loss of ability to activate splicing. Great reduction in splice site switching activity and no effect on RNA-binding</li><li>F->D at 162: Reduced nucleocytoplasmic shuttling; when associated with D-190</li><li>F->D at 180: Reduced nucleocytoplasmic shuttling; when associated with D-162</li><li>Missing at 182-248: In MR-B; strongly inhibits splicing</li><li>Missing at 182-199: In MR-E; loss of ability to activate splicing</li><li>Missing at 192-248: In MR-A; loss of ability to activate splicing</li><li>Missing at 192-199: In MR-D; loss of ability to activate splicing</li><li>Missing at 199-224: In RS-A; loss of ability to activate splicing but retains splice site switching</li><li>Missing at 215-248: In RS-C; loss of ability to activate splicing but retains splice site switching</li><li>Missing at 226-248: In RS-B; retains both splice activation and splice site switching activity</li></ul>	<li>P->S at 89: in a breast cancer sample; somatic mutation</li>			RNA-binding	GO:0003723						3
Q08211	1660	<ul><li>W->A at 332: Abrogates transcriptional activation by the MTAD domain</li><li>W->A at 339: Abrogates transcriptional activation and RNA polymerase II binding by the MTAD domain</li><li>W->A at 342: Abrogates transcriptional activation by the MTAD domain</li><li>K->R at 417: Abrogates transcriptional activation</li><li>Missing at 1163: Abolishes nuclear localization</li><li>R->L at 1166: Abolishes nuclear localization</li><li>Missing at 1166: Abolishes nuclear localization</li></ul>	<li>I->V at 894: in dbSNP:rs1049264</li>	localization	GO:0051179	binding	GO:0005488					rs1049264	3
Q08357	6575	<ul><li>D->N at 28: Impairs phosphate transport; no effect on retroviral receptor function</li><li>E->D,K at 55: Abolishes sodium-dependent phosphate transport; no effect on retroviral receptor function</li><li>E->Q at 55: Abolishes phosphate but not sodium uptake; when associated with Q-91 and Q-575</li><li>N->V at 81: Abolishes N-glycosylation</li><li>E->Q at 91: Abolishes phosphate but not sodium uptake; when associated with Q-55 and Q-575</li><li>D->N at 506: Impairs phosphate transport; no effect on retroviral receptor function</li><li>E->D,K at 575: Abolishes sodium-dependent phosphate transport; no effect on retroviral receptor function</li><li>E->Q at 575: Abolishes phosphate but not sodium uptake; when associated with Q-55 and Q-91</li></ul>		phosphate transport	GO:0006817								1
Q08378	2802	<ul><li>D->A at 59: Abolishes cleavage by caspase-2</li><li>L->A at 121: Loss of interaction with GOPC; when associated with A-128 and A-135</li><li>L->A at 128: Loss of interaction with GOPC; when associated with A-121 and A-135</li><li>L->A at 135: Loss of interaction with GOPC; when associated with A-121 and A-128</li><li>D->A at 139: Abolishes cleavage by caspase-3</li><li>D->A at 311: Abolishes cleavage by caspase-7</li></ul>	<li>G->E at 70: in dbSNP:rs2291256</li><li>P->L at 264: in dbSNP:rs3741486</li><li>K->R at 1185: in dbSNP:rs2291260</li>							<li>Q9HD26</li><li>Q5RD32</li>		<li>rs2291256</li><li>rs3741486</li><li>rs2291260</li>	3
Q08499	5144	<ul><li>D->R at 527: Abolishes homodimerization</li><li>R->D at 563: Abolishes homodimerization</li></ul>											1
Q08945	6749	<ul><li>D->A at 450: Abolishes cleavage by caspase</li><li>S->A at 510: Unable to bind DNA; when associated with A-657 and A-688</li><li>S->A at 657: Unable to bind DNA; when associated with A-510 and A-688. Still able to bind DNA; when associated with A-688</li><li>S->A at 688: Unable to bind DNA; when associated with A-510 and A-657. Still able to bind DNA; when associated with A-657</li></ul>	<li>L->V at 225: in dbSNP:rs768436</li><li>E->Q at 458: in dbSNP:rs11540304</li>									<li>rs768436</li><li>rs11540304</li>	3
Q08ET2	100049587	<ul><li>R->A at 362: Loss of interaction with TYROBP</li></ul>								<li>Q95J79</li><li>Q9TU45</li><li>Q8WNQ8</li><li>O43914</li>			1
Q08J23	54888	<ul><li>S->A at 139: Induces a constitutive association with NPM1</li><li>S->E at 139: Mimicks constitutive phosphorylation and abolishes methyltransferase activity</li></ul>	<li>V->I at 627: in dbSNP:rs2303708</li>	phosphorylation	GO:0016310					<li>Q00020</li><li>P03588</li><li>Q83270</li><li>P03589</li><li>P28931</li><li>P06011</li><li>P06748</li><li>P16039</li><li>P17769</li><li>P20122</li><li>Q66121</li><li>O40976</li><li>P28726</li><li>P27752</li><li>Q3T160</li><li>Q83264</li>		rs2303708	3
Q09013	1760	<ul><li>K->A at 110: Loss of kinase activity</li></ul>	<li>L->V at 438: in a lung small cell carcinoma sample; somatic mutation</li>			kinase activity	GO:0016301						3
Q09470	3736	<ul><li>CC->AA at 35-36: No effect on palmitoylation, no effect on current kinetics</li><li>C->A at 243: Strongly decreases palmitoylation and alters current kinetics</li></ul>	<li>V->F at 174: in EA1, MIM: 160120</li><li>I->R at 177: in EA1, MIM: 160120</li><li>F->C at 184: in EA1; alters voltage dependence and kinetics of activation though not of C-type inactivation, MIM: 160120</li><li>R->H at 204: in dbSNP:rs2229000, MIM: 160120</li><li>T->A at 226: in EA1, MIM: 160120</li><li>T->K at 226: in MK1; induces a reduced efflux of potassium ions during depolarization which results in increased muscle cell activity; coexpression studies of the mutant protein with the wild-type protein produces significantly reduced currents suggesting a severe effect of the mutation; dbSNP:rs28933383, MIM: 160120</li><li>T->M at 226: in EA1, MIM: 160120</li><li>T->R at 226: in EA1; yields currents with a largely reduced amplitude: in dbSNP rsrs28933383, MIM: 160120</li><li>R->S at 239: in EA1, MIM: 160120</li><li>A->P at 242: in MK1; 10% reduction of mean peak current amplitudes compared to wil-dtype; mutant and wild-type expression together is consistent with a loss-of-function effect of the mutation; dbSNP:rs28933381, MIM: 160120</li><li>P->H at 244: in MK1; no difference between the mutation compared to wild-type; although coexpression experiments with wild-type RNA yielded a peak current amplitude that was 200% of wildt-ype alone; coexpression of the mutant and wild-type genes had only a small effect on current activation parameters; dbSNP:rs28933382, MIM: 160120</li><li>F->I at 249: in EA1, MIM: 160120</li><li>E->D at 325: in EA1; results in non-functional homomeric channels, MIM: 160120</li><li>L->I at 329: in EA1, MIM: 160120</li><li>S->I at 342: in EA1; phenotype without myokymia, MIM: 160120</li><li>I->V at 400: in RNA edited version, MIM: 160120</li><li>V->I at 404: in EA1; yields current amplitudes that were not different from wild-type; coexpression with wild-type partially corrected the alterations in activation parameters, MIM: 160120</li><li>V->A at 408: in EA1; channels have voltage dependence similar to that of wild-type channels but with faster kinetics and increased C-type inactivation, MIM: 160120</li>							<li>P21741</li><li>Q9S7U9</li><li>Q07108</li>	<li>Myokymia isolated type 1 (MK1) [MIM:160120]</li><li>Episodic ataxia type 1 (EA1) [MIM:160120]</li>	<li>rs28933383</li><li>rs28933381</li><li>rs28933382</li><li>rs2229000</li>	3
Q09472	2033	<ul><li>R->K at 2056: No effect on interaction with NCOA2</li><li>R->K at 2088: Abolishes interaction with NCOA2</li><li>R->K at 2142: Strongly reduces interaction with NCOA2</li></ul>	<li>L->P at 827: in breast cancer</li><li>I->V at 997: in dbSNP:rs20551</li><li>E->G at 1013: in breast cancer</li><li>S->Y at 1650: in pancreatic cancer</li><li>T->S at 2174: in dbSNP:rs5758252</li><li>P->Q at 2221: in colorectal cancer; dbSNP:rs28937578</li><li>Q->P at 2223: in dbSNP:rs1046088</li>							Q15596		<li>rs28937578</li><li>rs5758252</li><li>rs1046088</li><li>rs20551</li>	3
Q09MP3	729475	<ul><li>L->A at 1134: Strongly decreases interaction with RAD51; when associated with 1143-AA-1144</li><li>LH->AA at 1143-1144: Strongly decreases interaction with RAD51; when associated with A-1134</li></ul>	<li>V->L at 876: in dbSNP:rs17380212</li><li>R->H at 976: in dbSNP:rs17314548</li><li>G->D at 1037: in dbSNP:rs834514</li>							<li>Q40134</li><li>P94102</li><li>Q2KJ94</li><li>Q8MKI8</li><li>O77507</li><li>Q99133</li><li>P37383</li><li>P25454</li><li>P70099</li><li>Q06609</li>		<li>rs17380212</li><li>rs834514</li><li>rs17314548</li>	3
Q0JRZ9	115548	<ul><li>F->E at 10: Binds preferentially to larger liposomes</li></ul>	<li>M->V at 371: in dbSNP:rs185435</li>									rs185435	3
Q0VD86	388324	<ul><li>S->A at 23: Loss of phosphorylation site</li><li>T->A at 182: Reduced phosphorylation. Phosphorylation is almost abolished; when asssociated with A-191</li><li>S->A at 191: Strongly reduced phosphorylation. Phosphorylation is almost abolished; when asssociated with A-182</li><li>S->A at 194: Reduced phosphorylation</li></ul>		phosphorylation	GO:0016310								1
Q0WX57	728369	<ul><li>C->S at 89: Abolishes enzymatic activity. Loss of the pro-apoptotic function</li></ul>											1
Q12772	6721	<ul><li>DRSR->AAAA at 478-481: Loss of cleavage by S2P</li><li>DRSR->AS at 478-481: Loss of cleavage by S2P</li><li>D->A at 478: No effect on proteolytic processing in response to low sterol</li><li>RSR->AAA at 479-481: Loss of cleavage by S2P</li><li>R->A at 479: No effect on cleavage by S2P</li><li>R->A at 481: No effect on cleavage by S2P</li><li>LC->FF at 484-485: No effect on cleavage by S2P</li><li>L->A at 484: No effect on cleavage by S2P</li><li>C->A at 485: No effect on cleavage by S2P</li><li>LC->NP at 490-491: Restores cleavage by S2P; when associated with F-495 and L-496. No effect on site of cleavage by S2P</li><li>NP->FL at 495-496: Loss of cleavage by S2P</li><li>N->F at 495: Reduced cleavage by S2P</li><li>P->L at 496: Reduced cleavage by S2P</li><li>R->A at 519: Loss of proteolytic processing in response to low sterol</li><li>R->K at 519: No effect on proteolytic processing in response to low sterol</li></ul>	<li>A->S at 273: in a breast cancer sample; somatic mutation</li><li>N->K at 347: in a breast cancer sample; somatic mutation</li><li>M->L at 536: in dbSNP:rs17002714</li><li>G->A at 595: in dbSNP:rs2228314</li><li>V->M at 623: in dbSNP:rs2229440</li><li>R->S at 860: in dbSNP:rs2228313</li>							<li>O43462</li><li>O54862</li>		<li>rs2228313</li><li>rs2229440</li><li>rs2228314</li><li>rs17002714</li>	3
Q12778	2308	<ul><li>T->A at 24: Nuclear targeting and enhanced transactivation; when associated with A-319</li><li>K->A at 245: Disrupts DNA binding; when associated with A-248</li><li>K->A at 248: Disrupts DNA binding; when associated with A-245</li><li>RRR->SAS at 251-253: Disrupts DNA binding</li><li>S->A at 256: Nuclear targeting. Abolishes the ability of IGF1 to suppress transactivation. Prevents T-24 and S-319 phosphorylation. Enhances transactivation; when associated with A-24 and A-319</li><li>S->D at 256: Reduces DNA binding, promotes nuclear exclusion and partially promotes T-24 and S-319 phosphorylation. Reduces DNA binding, does not promote nuclear exclusion but reduces transactivation; when associated with A-24 and A-319</li><li>S->A at 319: Nuclear targeting and enhanced transactivation; when associated with A-24</li><li>S->A at 329: Nuclear targeting and enhanced transactivation</li></ul>		phosphorylation	GO:0016310	DNA binding	GO:0003677			<li>P17647</li><li>Q6IVA5</li><li>P05019</li><li>Q6GUL6</li><li>Q28933</li><li>Q68LC0</li><li>P16545</li><li>P51457</li><li>P07455</li><li>P51458</li><li>P51462</li><li>P01343</li><li>P10763</li><li>Q6JLX1</li><li>Q95222</li><li>P33712</li><li>P18254</li>			1
Q12791	3778	<ul><li>L->R,H at 269: No effect in the coupling between calcium and channel opening</li><li>R->E at 272: Induces reduction in the coupling between calcium and channel opening</li><li>R->N at 275: Induces reduction in the coupling between calcium and channel opening</li><li>R->Q at 278: Induces reduction in the coupling between calcium and channel opening</li><li>Q->R at 281: No effect in the coupling between calcium and channel opening</li><li>E->K at 284: No effect in the coupling between calcium and channel opening</li><li>GYG->AAA at 354-356: Loss of function</li><li>C->S at 680: Loss of heme-induced channel inhibition</li><li>H->R at 681: Loss of heme-induced channel inhibition</li></ul>	<li>D->G at 434: in GEPD; may have a synergistic effect with ethanol in the triggering of symptoms, MIM: 609446</li>								Generalized epilepsy and paroxysmal dyskinesia (GEPD) [MIM:609446]		3
Q12796	10957	<ul><li>P->A at 287: Abolishes the interaction with the nuclear receptors; when associated with A-290</li><li>P->A at 290: Abolishes the interaction with the nuclear receptors; when associated with A-287</li></ul>	<li>P->L at 252: in dbSNP:rs2231277</li>									rs2231277	3
Q12800	7024	<ul><li>V->E at 211: Does not affect DNA-binding activity</li><li>I->R at 213: Does not affect DNA-binding activity</li><li>Q->L at 234: Significant reduction of DNA-binding activity</li><li>K->E at 236: Significant reduction of DNA-binding activity</li></ul>				DNA-binding	GO:0003677						1
Q12802	11214	<ul><li>A->P at 1251: Loss of PKA anchoring; when associated with P-1260</li><li>I->P at 1260: Loss of PKA anchoring; when associated with P-1251</li><li>A->P at 1265: Abolishes RII-binding</li><li>Y->F at 2153: Loss of interaction with RHOA</li></ul>	<li>M->T at 452: in dbSNP:rs2061821</li><li>W->R at 494: in dbSNP:rs2061822</li><li>K->Q at 526: in dbSNP:rs34434221</li><li>R->C at 574: in dbSNP:rs2061824</li><li>G->V at 624: in dbSNP:rs745191</li><li>E->K at 689: in dbSNP:rs7177107</li><li>V->A at 845: in dbSNP:rs4075256</li><li>V->M at 897: in dbSNP:rs4075254</li><li>P->A at 1062: in dbSNP:rs4843074</li><li>D->N at 1086: in dbSNP:rs4843075</li><li>M->T at 1216: in dbSNP:rs7162168</li><li>S->G at 1525: in dbSNP:rs35079107</li><li>G->S at 2457: in dbSNP:rs2241268</li><li>A->T at 2801: in dbSNP:rs2614668</li>			<li>binding</li><li>PKA</li>	<li>GO:0005488</li><li>GO:0004691</li>			<li>P24406</li><li>P61586</li><li>P61585</li>		<li>rs2241268</li><li>rs745191</li><li>rs4843075</li><li>rs35079107</li><li>rs4843074</li><li>rs2614668</li><li>rs2061821</li><li>rs2061824</li><li>rs2061822</li><li>rs4075254</li><li>rs7177107</li><li>rs4075256</li><li>rs7162168</li><li>rs34434221</li>	3
Q12809	3757	<ul><li>F->A at 29: Slows down deactivation</li><li>Y->A at 43: Slows down deactivation</li><li>S->A at 283: Abolishes phosphorylation; when associated with A-890; A-895 and A-1137</li><li>N->Q at 598: No effect on cell surface expression, but changes inactivation kinetics; when associated with A-631</li><li>N->Q at 629: Abolishes cell surface expression; has no effect on N-glycosylation</li><li>S->A at 631: No effect on cell surface expression, but changes inactivation kinetics; when associated with Q-598</li><li>S->A at 890: Abolishes phosphorylation; when associated with A-283; A-895 and A-1137</li><li>T->A at 895: Abolishes phosphorylation; when associated with A-283; A-890 and A-1137</li><li>S->A at 1137: Abolishes phosphorylation; when associated with A-283; A-890 and A-895</li></ul>	<li>F->L at 29: in LQT2, MIM: 152427</li><ul><li>F->A at 29: Slows down deactivation</li></ul><li>N->T at 33: in LQT2, MIM: 152427</li></ul><li>G->V at 47: in LQT2, MIM: 152427</li></ul><li>G->R at 53: in LQT2, MIM: 152427</li></ul><li>R->Q at 56: in LQT2, MIM: 152427</li></ul><li>T->P at 65: in LQT2: in dbSNP rsrs28933095, MIM: 152427</li></ul><li>C->G at 66: in LQT2, MIM: 152427</li></ul><li>H->R at 70: in LQT2, MIM: 152427</li></ul><li>P->Q at 72: in LQT2, MIM: 152427</li></ul><li>A->P at 78: in LQT2, MIM: 152427</li></ul><li>L->R at 86: in LQT2, MIM: 152427</li></ul><li>R->G at 100: in LQT2; digenic; associated with the Asn-1819 mutation on the SCN5A gene, MIM: 152427</li></ul><li>R->W at 176: in LQT2; dbSNP:rs36210422, MIM: 152427</li></ul><li>R->Q at 181: in dbSNP:rs41308954, MIM: 152427</li></ul><li>G->GGAG at 189, MIM: 152427</li></ul><li>R->C at 312: in LQT2, MIM: 152427</li></ul><li>P->S at 347: in LQT2, MIM: 152427</li></ul><li>T->M at 436: in LQT2, MIM: 152427</li></ul><li>P->L at 451: in LQT2, MIM: 152427</li></ul><li>N->D at 470: in LQT2, MIM: 152427</li></ul><li>T->I at 474: in LQT2, MIM: 152427</li></ul><li>A->T at 490: in long QT syndrome; bradycardia-induced; dbSNP:rs28928905, MIM: 152427</li></ul><li>Missing  at 500-508: in LQT2, MIM: 152427</li></ul><li>K->N at 525: in long QT syndrome 2/3; located on the same allele as Pro-528, MIM: 152427</li></ul><li>R->P at 528: in long QT syndrome 2/3; located on the same allele as Asn-525, MIM: 152427</li></ul><li>R->Q at 531: in LQT2, MIM: 152427</li></ul><li>R->C at 534: in LQT2, MIM: 152427</li></ul><li>L->S at 552: in LQT2, MIM: 152427</li></ul><li>A->P at 558: in LQT2, MIM: 152427</li></ul><li>A->T at 561: in LQT2, MIM: 152427</li></ul><li>A->V at 561: in LQT2, MIM: 152427</li></ul><li>L->P at 564: in LQT2, MIM: 152427</li></ul><li>Y->H at 569: in LQT2, MIM: 152427</li></ul><li>G->C at 572: in LQT2, MIM: 152427</li></ul><li>G->R at 572: in LQT2; severe form, MIM: 152427</li></ul><li>R->C at 582: in LQT2, MIM: 152427</li></ul><li>G->S at 584: in LQT2, MIM: 152427</li></ul><li>W->C at 585: in LQT2, MIM: 152427</li></ul><li>N->D at 588: in LQT2, MIM: 152427</li></ul><li>N->K at 588: in SQT1, MIM: 609620</li></ul><li>I->R at 593: in LQT2: in dbSNP rsrs28928904, MIM: 152427</li></ul><li>I->T at 593: in LQT2, MIM: 152427</li></ul><li>G->S at 601: in LQT2, MIM: 152427</li></ul><li>G->S at 604: in LQT2, MIM: 152427</li></ul><li>D->N at 609: in LQT2, MIM: 152427</li></ul><li>Y->H at 611: in LQT2, MIM: 152427</li></ul><li>V->L at 612: in LQT2, MIM: 152427</li></ul><li>T->M at 613: in LQT2, MIM: 152427</li></ul><li>A->V at 614: in LQT2, MIM: 152427</li></ul><li>L->V at 615: in LQT2, MIM: 152427</li></ul><li>G->S at 626: in LQT2, MIM: 152427</li></ul><li>F->L at 627: in LQT2, MIM: 152427</li></ul><li>G->S at 628: in LQT2, MIM: 152427</li></ul><li>N->D at 629: in LQT2, MIM: 152427</li><ul><li>N->Q at 629: Abolishes cell surface expression; has no effect on N-glycosylation</li></ul><li>N->K at 629: in LQT2, MIM: 152427</li><ul><li>N->Q at 629: Abolishes cell surface expression; has no effect on N-glycosylation</li></ul><li>N->S at 629: in LQT2, MIM: 152427</li><ul><li>N->Q at 629: Abolishes cell surface expression; has no effect on N-glycosylation</li></ul><li>V->A at 630: in LQT2, MIM: 152427</li></ul><li>V->L at 630: in LQT2, MIM: 152427</li></ul><li>P->S at 632: in LQT2, MIM: 152427</li></ul><li>N->S at 633: in LQT2, MIM: 152427</li></ul><li>E->K at 637: in LQT2, MIM: 152427</li></ul><li>K->E at 638: in LQT2, MIM: 152427</li></ul><li>Missing  at 638: in LQT2, MIM: 152427</li></ul><li>F->L at 640: in LQT2, MIM: 152427</li></ul><li>M->L at 645: in LQT2, MIM: 152427</li></ul><li>R->C at 696: in long QT syndrome 2/3, MIM: 152427</li></ul><li>R->Q at 752: in LQT2, MIM: 152427</li></ul><li>R->W at 752: in LQT2, MIM: 152427</li></ul><li>R->W at 784: predisposes to LQT2 and torsades de pointes while taking the drug amiodarone; in vitro studies confirmed a significant reduction in potassium currents; the ECG abnormalities reversed on drug withdrawal: in dbSNP rsrs12720441, MIM: 152427</li></ul><li>F->C at 805: in LQT2, MIM: 152427</li></ul><li>F->S at 805: in LQT2, MIM: 152427</li></ul><li>S->L at 818: in LQT2, MIM: 152427</li></ul><li>V->M at 822: in LQT2, MIM: 152427</li></ul><li>R->W at 823: in LQT2, MIM: 152427</li></ul><li>N->I at 861: in LQT2, MIM: 152427</li></ul><li>K->T at 897: in dbSNP:rs1805123, MIM: 152427</li></ul><li>P->L at 917: in LQT2, MIM: 152427</li></ul><li>R->W at 922: in LQT2, MIM: 152427</li></ul><li>R->C at 948: in long QT syndrome 2/3, MIM: 152427</li></ul><li>P->L at 1016: in dbSNP:rs41313074, MIM: 152427</li></ul><li>P->S at 1016: in dbSNP:rs41307280, MIM: 152427</li></ul><li>P->S at 1020: in dbSNP:rs41307274, MIM: 152427</li></ul><li>P->L at 1026: in dbSNP:rs41307271, MIM: 152427</li></ul><li>R->Q at 1055: in dbSNP:rs41307270, MIM: 152427</li></ul>	phosphorylation	GO:0016310			cell surface	GO:0009928,GO:0009986	<li>P35184</li><li>P54420</li><li>Q14524</li><li>O25424</li><li>Q9ZLB9</li><li>P06608</li>	<li>Long QT syndrome type 2 (LQT2) [MIM:152427]</li><li>Short QT syndrome type 1 (SQT1) [MIM:609620]</li>	<li>rs36210422</li><li>rs1805123</li><li>rs41307270</li><li>rs41307280</li><li>rs28933095</li><li>rs41307274</li><li>rs28928905</li><li>rs41308954</li><li>rs41313074</li><li>rs12720441</li><li>rs41307271</li><li>rs28928904</li>	4
Q12830	2186	<ul><li>Y->T at 2869: Abolishes binding to histone H3-K4Me3</li><li>Y->T at 2876: Strongly reduces binding to histone H3-K4Me3</li><li>Y->S at 2882: Abolishes binding to histone H3-K4Me3</li><li>G->E,L at 2884: Strongly reduces binding to histone H3-K4Me3</li><li>D->N,A at 2886: Abolishes binding to histone H3-K4Me3</li><li>Q->K at 2889: Strongly reduces binding to histone H3-K4Me3</li><li>W->E,F at 2891: Abolishes binding to histone H3-K4Me3</li></ul>				binding	GO:0005488			<li>P61835</li><li>P61834</li><li>P61833</li><li>Q9P427</li><li>P61832</li><li>Q98RY4</li><li>P61831</li><li>P61830</li><li>P83864</li><li>P07041</li><li>P90543</li><li>P02299</li><li>P08437</li><li>Q757N1</li><li>P50564</li><li>P61836</li><li>Q06196</li><li>P08898</li><li>Q9HDN1</li><li>P23753</li><li>Q7XYZ0</li><li>Q9U7D1</li><li>Q2UCQ0</li><li>Q5DWI3</li><li>P80553</li><li>P40285</li><li>P84239</li><li>P84238</li><li>P84237</li><li>P84236</li><li>P84235</li><li>P22843</li>			1
Q12840	3798	<ul><li>R->S at 280: Strongly reduces microtubule affinity; slightly reduces gliding velocity</li></ul>	<li>K->N at 253: decreases microtubule affinity; reduces gliding velocity; reduces microtubule-dependent ATP turnover</li><li>N->S at 256: in SPG10; slightly decreases microtubule affinity; reduces gliding velocity; reduces microtubule-dependent ATP turnover, MIM: 604187</li><li>Y->C at 276: in SPG10, MIM: 604187</li><li>R->C at 280: in SPG10, MIM: 604187</li><ul><li>R->S at 280: Strongly reduces microtubule affinity; slightly reduces gliding velocity</li></ul><li>A->V at 361: in SPG10; does not affect microtubule affinity; does not affect gliding velocity; does not affect microtubule-dependent ATP turnover, MIM: 604187</li></ul>					microtubule	GO:0005874		Spastic paraplegia type 10 (SPG10) [MIM:604187]		4
Q12888	7158	<ul><li>SQS->AQA at 176-178: Loss of phosphorylation site</li><li>R->A at 1396: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1398; A-1400; A-1401 and A-1403</li><li>R->K at 1396: No detectable effect on methylation by PRMT1 (in vitro)</li><li>R->A at 1398: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1396; A-1400; A-1401 and A-1403</li><li>R->K at 1398: Reduced methylation by PRMT1 (in vitro). Strongly reduced methylation; when associated with K-1400. Strongly reduced methylation; when associated with K-1401</li><li>R->A at 1400: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1396; A-1398; A-1401 and A-1403</li><li>R->K at 1400: Reduced methylation by PRMT1 (in vitro). Strongly reduced methylation; when associated with K-1398. Strongly reduced methylation; when associated with K-1401</li><li>R->A at 1401: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1396; A-1398; A-1400 and A-1403</li><li>R->K at 1401: Reduced methylation by PRMT1 (in vitro). Strongly reduced methylation; when associated with K-1398. Strongly reduced methylation; when associated with K-1400</li><li>R->A at 1403: No detectable effect on methylation by PRMT1 (in vitro). Loss of methylation; when associated with A-1396; A-1398; A-1400 and A-1401</li><li>R->K at 1403: No detectable effect on methylation by PRMT1 (in vitro)</li><li>W->A,H at 1495: Loss of interaction with histone H4 that has been dimethylated at 'Lys-20'</li><li>W->F at 1495: No effect on recruitment to double strand breaks</li><li>W->V at 1495: Reduces recruitment to double strand breaks</li><li>Y->A at 1500: Reduces affinity for histone H4 that has been dimethylated at 'Lys-20'</li><li>Y->A at 1502: Reduces affinity for histone H4 that has been dimethylated at 'Lys-20'</li><li>Y->L,Q at 1502: Abolishes recruitment to double strand breaks</li><li>D->A at 1521: Loss of interaction with histone H4 that has been dimethylated at 'Lys-20'. Abolishes recruitment to double strand breaks</li><li>D->R at 1521: Abolishes recruitment to double strand breaks</li><li>Y->A at 1523: Increases affinity for histone H4 that has been dimethylated at 'Lys-20'. No effect on recruitment to double strand breaks</li><li>Y->S at 1523: Decreases affinity for histone H4 that has been dimethylated at 'Lys-20'</li></ul>	<li>D->E at 353: in dbSNP:rs560191</li><li>G->S at 412: in dbSNP:rs689647</li><li>M->V at 648: in dbSNP:rs45443496</li><li>Q->R at 699: in dbSNP:rs34823068</li><li>D->G at 841: in dbSNP:rs34185035</li><li>E->G at 1014: in dbSNP:rs45470395</li><li>V->A at 1026: in dbSNP:rs45482998</li><li>K->Q at 1136: in dbSNP:rs2602141</li><li>E->K at 1137: in dbSNP:rs34740611</li><li>A->G at 1170: in dbSNP:rs45500399</li><li>I->V at 1174: in dbSNP:rs3803339</li><li>R->Q at 1442: in dbSNP:rs2230449</li><li>G->W at 1488: in dbSNP:rs11554564</li>	phosphorylation	GO:0016310					<li>Q76FE7</li><li>P82888</li><li>Q6LAF1</li><li>Q6LAF3</li><li>P91882</li><li>Q8MTV8</li><li>Q27443</li><li>P23630</li><li>Q76FD9</li><li>Q99873</li><li>P08436</li><li>P51728</li><li>Q03709</li><li>P35059</li><li>P35057</li><li>P91890</li><li>Q6WZ83</li><li>P83865</li><li>P84048</li><li>P84049</li><li>P84044</li><li>Q7K8C0</li><li>Q7KQD1</li><li>P84045</li><li>P84046</li><li>P62779</li><li>P84047</li><li>P62778</li><li>P62777</li><li>P84040</li><li>Q8I0Y4</li><li>P62776</li><li>P84041</li><li>P84042</li><li>P84043</li><li>Q43083</li><li>P84050</li><li>Q6WV90</li><li>P15176</li><li>P62782</li><li>P62781</li><li>Q8NIG3</li><li>P62784</li><li>P62783</li><li>P62780</li><li>Q9HDF5</li><li>Q7LKT3</li><li>P62789</li><li>P62788</li><li>Q27765</li><li>Q6WV73</li><li>P62787</li><li>Q6WV74</li><li>P59259</li><li>Q7M3Z5</li><li>P91849</li><li>Q6ZXX3</li><li>P13345</li><li>P13344</li><li>P09322</li><li>Q76H85</li><li>P62796</li><li>P62797</li><li>P62798</li><li>P62799</li><li>P62790</li><li>P62791</li><li>P62792</li><li>P62793</li><li>P62794</li><li>P62795</li><li>Q6WV72</li><li>P05821</li><li>P80739</li><li>P80738</li><li>Q9T1X2</li><li>Q9U7D0</li><li>P27996</li><li>P90516</li><li>Q8T7J8</li><li>P62803</li><li>P62802</li><li>P62801</li><li>P62800</li><li>Q76MU7</li><li>P02309</li><li>Q8J1L3</li><li>P10099</li><li>Q6V9I2</li><li>P62806</li><li>P50566</li><li>P62804</li><li>P62805</li><li>P04915</li><li>Q76FF5</li><li>Q8SQP4</li><li>P04914</li><li>Q76FF1</li><li>Q6PMI5</li><li>P62887</li><li>Q71V09</li><li>P40287</li>		<li>rs34185035</li><li>rs45470395</li><li>rs34823068</li><li>rs34740611</li><li>rs560191</li><li>rs45482998</li><li>rs3803339</li><li>rs45443496</li><li>rs2230449</li><li>rs689647</li><li>rs11554564</li><li>rs45500399</li><li>rs2602141</li>	3
Q12908	6555	<ul><li>N->D at 10: Abolishes glycosylation</li><li>N->D at 328: No effect on glycosylation</li></ul>	<li>V->I at 98: in dbSNP rsrs55971546</li><li>V->I at 159: in dbSNP rsrs60380298</li><li>A->S at 171: in dbSNP:rs188096</li><li>L->P at 243: in PBAM; abolishes taurocholate transport, MIM: 601295</li><li>T->M at 262: in PBAM; abolishes taurocholate transport, MIM: 601295</li><li>P->S at 290: in a patient with Crohn disease; abolishes taurocholate transport: in dbSNP rsrs56398830, MIM: 601295</li>	transport	GO:0006810						Primary bile acid malabsorption (PBAM) [MIM:601295]	<li>rs188096</li><li>rs56398830</li><li>rs55971546</li><li>rs60380298</li>	3
Q12959	1739	<ul><li>INI->ANA at 38-40: Loss of membrane association and DLG2-binding</li></ul>	<li>K->R at 140: in dbSNP:rs1802668</li><li>R->Q at 278: in dbSNP:rs1134986</li><li>P->L at 899: in dbSNP:rs34492126</li>			binding	GO:0005488	membrane	GO:0016020	<li>Q15700</li><li>Q14168</li>		<li>rs34492126</li><li>rs1802668</li><li>rs1134986</li>	3
Q12962	6881	<ul><li>K->Q at 189: Abolishes methylation</li></ul>	<li>I->T at 92: in dbSNP:rs3176311</li>									rs3176311	3
Q12972	5511	<ul><li>SRVH->AAAA at 68-71: Abolishes interaction with CDC5L, SF3B1 and MELK, and localization in nuclear speckles. No effect on repressor activity</li><li>KRKRK->AAAAA at 193-197: No effect on interaction with EED</li><li>KRK->AAA at 195-197: Abolishes nuclear import; when associated with A-234--237-A</li><li>S->A,D at 199: No change in subcellular location, no effect on interaction with EED or repressor activity; when associated with A-204 or D-204</li><li>V->A at 201: Reduces PP-1 binding, but no effect on subcellular location or repressor activity; when associated with A-203</li><li>F->A at 203: Reduces PP-1 binding, but no effect on subcellular location or repressor activity; when associated with A-201</li><li>S->A,D at 204: No change in subcellular location, no effect on interaction with EED or repressor activity; when associated with A-199 or D-199</li><li>KKKR->AAAA at 234-237: Abolishes nuclear import; when associated with A-195-197-A</li><li>Y->D at 264: Abolishes in vitro phosphorylation of isoform gamma by Lyn</li><li>Y->D at 335: Decreases the ability of isoform Gamma to bind and inhibit PP-1</li><li>T->D at 346: No effect on the ability of isoform Gamma to inhibit PP-1</li><li>S->D at 348: No effect on the ability of isoform Gamma to inhibit PP-1</li></ul>		<li>phosphorylation</li><li>nuclear import</li><li>localization</li>	<li>GO:0016310</li><li>GO:0051170</li><li>GO:0051179</li>	binding	GO:0005488	nuclear speckles	GO:0016607	<li>Q14680</li><li>Q2KJC1</li><li>Q99459</li><li>O75533</li>			1
Q12974	8073	<ul><li>Missing at 164-167: Locates in the nucleus and cytosol. No interaction with RABGGTB</li><li>C->S at 165: No effect on interaction with RABGGTB</li></ul>						<li>nucleus</li><li>cytosol</li>	<li>GO:0005634</li><li>GO:0005829</li>	<li>P53611</li><li>Q5E9B3</li>			1
Q12981	662	<ul><li>L->A at 114: Loss of proapoptotic effect. No effect on interaction with RINT1</li></ul>	<li>Q->H at 14: in dbSNP:rs5745100</li>							Q6NUQ1		rs5745100	3
Q12986	4799	<ul><li>F->A at 20: Reduces PABPC1 and PABC4 binding</li></ul>	<li>H->Y at 731: in dbSNP:rs5017299</li><li>P->S at 760: in dbSNP:rs2860036</li><li>P->Q at 1086: in dbSNP:rs2274866</li>			binding	GO:0005488			<li>P11940</li><li>P61286</li>		<li>rs2274866</li><li>rs2860036</li><li>rs5017299</li>	3
Q13029	7799	<ul><li>C->Y at 106: Reduced histone methyltransferase activity</li><li>A->V at 159: Reduced histone methyltransferase activity</li><li>I->V at 188: Loss of histone methyltransferase activity</li></ul>	<li>D->E at 283: in dbSNP:rs2076324</li><li>S->N at 450: in dbSNP:rs17350795</li>							<li>Q00020</li><li>P03588</li><li>P03589</li><li>Q83270</li><li>P28931</li><li>P06011</li><li>P17769</li><li>P20122</li><li>Q66121</li><li>O40976</li><li>P28726</li><li>P27752</li><li>Q83264</li>		<li>rs2076324</li><li>rs17350795</li>	3
Q13043	6789	<ul><li>K->R at 59: Loss of activity</li><li>T->A at 175: No effect on activity</li><li>T->A at 177: No effect on activity</li><li>T->A at 183: Loss of activity</li><li>D->N at 326: Resistant to proteolytic cleavage by caspase during apoptosis; when associated with N-349</li><li>D->N at 349: Resistant to proteolytic cleavage by caspase during apoptosis; when associated with N-326</li><li>L->P at 444: Loss of homodimerization, activation, and autophosphorylation</li></ul>	<li>H->N at 162: in dbSNP rsrs55850759</li><li>R->Q at 310: in dbSNP:rs35447878</li><li>V->M at 312: in dbSNP:rs17420378</li><li>I->T at 355: in dbSNP:rs35944046</li><li>P->L at 416: in dbSNP:rs33963346</li>	<li>autophosphorylation</li><li>apoptosis</li>	<li>GO:0046777</li><li>GO:0006915</li>							<li>rs33963346</li><li>rs17420378</li><li>rs55850759</li><li>rs35944046</li><li>rs35447878</li>	3
Q13045	2314	<ul><li>E->K at 586: No change in ESR1 binding but reduced binding to ACTL6A and reduced coactivator function</li><li>G->S at 603: No change in binding to ACTL6A or in coactivator function</li></ul>	<li>R->H at 1243: in dbSNP:rs8821</li>			binding	GO:0005488			<li>Q9TV98</li><li>Q9QZJ5</li><li>P49884</li><li>Q91424</li><li>Q91250</li><li>Q29040</li><li>O96019</li><li>P38111</li><li>Q9YHT3</li><li>P50242</li><li>P50241</li><li>P03372</li><li>P16058</li><li>P50240</li><li>Q9PVZ9</li><li>Q9YH33</li><li>Q4R333</li><li>P06212</li><li>P57753</li><li>P49885</li><li>Q53AD2</li><li>P49886</li><li>O42132</li><li>Q9YHZ7</li>		rs8821	3
Q13085	31	<ul><li>S->A at 78: No effect on interaction with BRCA1</li><li>S->A at 344: No effect on interaction with BRCA1</li><li>S->A at 432: No effect on interaction with BRCA1</li><li>S->A at 1201: No effect on interaction with BRCA1</li><li>S->A at 1263: Abolishes interaction with BRCA1</li><li>S->A at 1585: No effect on interaction with BRCA1</li><li>S->A at 1952: No effect on interaction with BRCA1</li><li>S->A at 2211: No effect on interaction with BRCA1</li></ul>	<li>R->W at 838: in dbSNP:rs2287351</li><li>R->Q at 1687: in a colorectal cancer sample; somatic mutation</li><li>A->V at 2271: rare polymorphism; frequency <0.004; may play a role in breast cancer susceptibility</li>							<li>Q864U1</li><li>P38398</li><li>Q95153</li><li>Q6J6J0</li><li>Q6J6I8</li><li>Q6J6I9</li><li>Q9GKK8</li>		rs2287351	3
Q13093	7941	<ul><li>S->A at 108: Activity is higher than wild-type</li><li>S->A at 273: Loss of activity</li><li>D->A at 286: Almost no activity</li><li>D->N at 286: Diminishes activity</li><li>D->A at 296: Loss of activity</li><li>D->N at 296: Loss of activity</li><li>D->A at 304: No change in activity</li><li>D->A at 338: Activity is higher than wild-type</li><li>H->A at 351: Loss of activity</li></ul>	<li>L->P at 45: in dbSNP rsrs45521937</li><li>R->H at 92: common polymorphism; dbSNP:rs1805017</li><li>K->N at 191: in dbSNP rsrs45454695</li><li>I->T at 198: common polymorphism; dbSNP:rs1805018</li><li>V->F at 279: in PLA2G7 deficiency; loss of function; more common among Japanese than in Caucasians; risk factor for coronary arthery disease and stroke; dbSNP:rs16874954, MIM: 601690</li><li>Q->R at 281: in PLA2G7 deficiency; loss of function, MIM: 601690</li><li>V->A at 379: common polymorphism; dbSNP:rs1051931, MIM: 601690</li>							<li>Q28262</li><li>P70683</li><li>Q90678</li><li>Q13093</li><li>Q28017</li>	Platelet-activating factor acetylhydrolase deficiency (PLA2G7 deficiency) [MIM:601690]	<li>rs45521937</li><li>rs1051931</li><li>rs1805017</li><li>rs1805018</li><li>rs16874954</li><li>rs45454695</li>	3
Q13107	7375	<ul><li>C->A at 311: Loss of activity</li></ul>	<li>Y->C at 620: in dbSNP:rs9311440</li>									rs9311440	3
Q13137	10241	<ul><li>C->A at 400: Loss of interaction with MYO6</li><li>C->A at 425: No effect on interaction with MYO6</li></ul>	<li>G->E at 140: in dbSNP:rs550510</li><li>G->R at 227: in dbSNP:rs2303016</li><li>V->A at 248: in dbSNP:rs2303015</li><li>T->A at 273: in dbSNP:rs17849804</li><li>P->A at 389: in dbSNP:rs10278</li>							Q9UM54		<li>rs17849804</li><li>rs2303015</li><li>rs2303016</li><li>rs550510</li><li>rs10278</li>	3
Q13148	23435	<ul><li>Missing at 106-175: Completely abolishes RNA binding</li><li>LIVLGL->DIDLGD at 106-111: Completely abolishes RNA binding</li><li>Missing at 106-111: Completely abolishes RNA binding</li><li>FGF->LGL at 147-149: Highly reduces binding to RNA and DNA</li><li>Missing at 193-257: Alters but does not abolish RNA binding</li></ul>	<li>A->V at 90</li><li>D->G at 169: in ALS10, MIM: 612069</li><li>G->S at 287: in ALS10, MIM: 612069</li><li>G->A at 290: in ALS10, MIM: 612069</li><li>G->A at 294: in ALS10, MIM: 612069</li><li>G->S at 298: in ALS10, MIM: 612069</li><li>A->T at 315: in ALS10, MIM: 612069</li><li>Q->K at 331: in ALS10; impedes the development of normal limb and tail buds and increases the number of apoptotic nuclei when expressed in chick embryos, MIM: 612069</li><li>M->V at 337: in ALS10; impedes the development of normal limb and tail buds and increases the number of apoptotic nuclei when expressed in chick embryos, MIM: 612069</li><li>G->C at 348: in ALS10, MIM: 612069</li><li>R->S at 361: in ALS10, MIM: 612069</li><li>A->T at 382: in ALS10, MIM: 612069</li><li>N->D at 390: in ALS10, MIM: 612069</li><li>N->S at 390: in ALS10, MIM: 612069</li>	development	GO:0007275	<li>binding</li><li>RNA binding</li>	<li>GO:0005488</li><li>GO:0003723</li>	buds	GO:0005933		Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]		3
Q13153	5058	<ul><li>H->L at 83: Decreases activity; when associated with L-86</li><li>H->L at 86: Decreases activity; when associated with L-83</li><li>L->F at 107: Constitutively active</li><li>T->A at 423: Decreases CDC42-stimulated activity and autophosphorylation</li></ul>	<li>L->V at 515: in dbSNP:rs35345144</li>	autophosphorylation	GO:0046777					<li>O94103</li><li>Q90694</li><li>O14426</li><li>P60953</li><li>P60952</li><li>Q17031</li><li>Q9HF56</li><li>P19073</li>		rs35345144	3
Q13158	8772	<ul><li>V->N at 121: No interaction with Fas receptor</li></ul>								<li>P25446</li><li>Q63199</li>			1
Q13163	5607	<ul><li>K->M at 195: Inactivation</li><li>S->A at 311: Inactivation</li><li>T->A at 315: Inactivation</li></ul>	<li>H->R at 118: in dbSNP:rs56241934</li><li>A->V at 427: in dbSNP rsrs55877854</li><li>A->T at 428: in dbSNP:rs55811347</li>									<li>rs56241934</li><li>rs55811347</li><li>rs55877854</li>	3
Q13164	5598	<ul><li>TEY->AEF at 219-221: Loss activation by MAP2K5</li></ul>	<li>R->H at 535</li><li>G->A at 550: in dbSNP:rs56388327</li>							Q13163		rs56388327	3
Q13177	5062	<ul><li>D->N at 212: Inhibits caspase-mediated cleavage</li><li>G->A at 213: Abolishes myristoylation of PAK-2p34 and membrane location</li><li>IVSIG->REGRS at 239-243: Abolishes nuclear export</li><li>KKK->MHE at 246-248: Greatly inhibits nuclear localization</li><li>K->R at 278: Abolishes kinase activity and autophosphorylation</li><li>T->A at 402: Abolishes kinase activity and greatly inhibits autophosphorylation of PAK-2p27 and PAK-2p34</li></ul>		<li>autophosphorylation</li><li>nuclear export</li><li>localization</li>	<li>GO:0046777</li><li>GO:0051168</li><li>GO:0051179</li>	kinase activity	GO:0016301	membrane	GO:0016020				1
Q13188	6788	<ul><li>K->R at 56: Loss of activity</li></ul>	<li>V->L at 60: in an ovarian clear cell carcinoma sample; somatic mutation</li><li>F->C at 418: in dbSNP:rs36047674</li>									rs36047674	3
Q13191	868	<ul><li>G->E at 298: Inhibits interaction with SYK. No effect on E3 activity</li><li>C->A at 373: Abolishes E3 activity but does not affect binding to substrates</li><li>Y->F at 665: Slightly inhibits interaction with CRKL. Abolishes interaction with CRKL; when associated to F-709</li><li>Y->F at 709: Inhibits interaction with CRKL. Abolishes interaction with CRKL; when associated to F-665</li><li>R->A at 904: No effect on interaction with CD2AP. Reduced interaction with SH3KBP1. Strongly reduced interaction with SH3KBP1; when associated with A-911</li><li>K->A at 907: No effect on interaction with SH3KBP1. Reduced interaction with CD2AP. Strongly reduced interaction with CD2AP; when associated with A-911</li><li>R->A at 911: Reduced interaction with CD2AP and with SH3KBP1. Strongly reduced interaction with CD2AP; when associated with A-907. Strongly reduced interaction with SH3KBP1; when associated with A-904</li><li>A->E at 937: Loss of ubiquitin binding. Reduced levels of tyrosine phosphorylation</li><li>M->A at 940: Loss of ubiquitin binding. Reduced levels of tyrosine phosphorylation</li><li>GY->AQ at 943-944: Abolishes interaction with ubiquitinated proteins</li><li>F->A at 946: Loss of ubiquitin binding. Reduced levels of tyrosine phosphorylation</li><li>I->E at 966: Interferes with dimerization. Reduced E3 ubiquitin-protein ligase activity. Reduced levels of tyrosine phosphorylation</li><li>L->A at 967: No effect on interaction with ubiquitinated proteins</li></ul>	<li>R->K at 584: in dbSNP:rs17853100</li><li>N->D at 883: in dbSNP:rs35835913</li>	phosphorylation	GO:0016310	binding	GO:0005488			<li>P69326</li><li>P08565</li><li>P69322</li><li>P69323</li><li>P69324</li><li>P69325</li><li>P68196</li><li>O46543</li><li>P68197</li><li>Q05550</li><li>P68198</li><li>P68199</li><li>P19848</li><li>P68195</li><li>P42739</li><li>Q867C2</li><li>P62991</li><li>P62990</li><li>P61863</li><li>P61864</li><li>Q96B97</li><li>P61862</li><li>Q867C4</li><li>Q867C3</li><li>P23398</li><li>P68204</li><li>P84589</li><li>Q865C5</li><li>P42740</li><li>P68201</li><li>Q8MKD1</li><li>P14792</li><li>P63049</li><li>P0C072</li><li>P63051</li><li>Q8RSY1</li><li>P69308</li><li>P69309</li><li>P20685</li><li>Q9Y5K6</li><li>Q2QCI9</li><li>P15174</li><li>Q00655</li><li>P46109</li><li>P62976</li><li>P62977</li><li>P62974</li><li>P62975</li><li>P62972</li><li>P62973</li><li>P14624</li><li>P13117</li><li>P43405</li><li>P46574</li><li>P69310</li><li>P69313</li><li>P69314</li><li>P69311</li><li>P08618</li><li>P69312</li><li>P69317</li><li>P69318</li><li>P0C014</li><li>P69315</li><li>P69316</li><li>P59263</li><li>P69319</li><li>P49634</li><li>P49635</li><li>P22589</li><li>Q9Y848</li><li>P62988</li><li>P62989</li><li>P23324</li><li>P69321</li><li>P69320</li><li>P59669</li>		<li>rs35835913</li><li>rs17853100</li>	3
Q13239	6503	<ul><li>R->K at 111: Strongly reduces interaction with ZAP70, CD3Z, SYK and LAT</li><li>L->S at 218: Abolishes interaction with CBL. Does not affect dimerization; when associated with S-224 and S-229</li><li>L->S at 224: Abolishes interaction with CBL. Does not affect dimerization; when associated with S-218 and S-229</li><li>L->S at 229: Abolishes interaction with CBL. Does not affect dimerization; when associated with S-218 and S-224</li><li>LSL->QSQ at 237-239: Abolishes interaction with CBL. Slightly affects dimerization</li></ul>								<li>P20963</li><li>P29329</li><li>P43623</li><li>P22681</li><li>P53780</li><li>P44527</li><li>Q9TUF8</li><li>Q9XSJ9</li><li>P53101</li><li>Q52811</li><li>Q07703</li><li>O43561</li><li>P06721</li><li>P41929</li><li>P23256</li><li>Q00655</li><li>P18949</li><li>P43403</li><li>P43405</li><li>P0A4K2</li><li>P0A4K3</li>			1
Q13261	3601	<ul><li>Y->F at 227: Abrogates association with SYK and phosphorylation upon IL-15 stimulation</li></ul>	<li>N->T at 182: in dbSNP:rs2228059</li>	phosphorylation	GO:0016310					<li>O97687</li><li>P40933</li><li>Q4U0U2</li><li>P40221</li><li>P97604</li><li>Q4GZL1</li><li>Q00655</li><li>Q9XSJ6</li><li>Q3Y5G8</li><li>P43405</li><li>P48092</li><li>Q95253</li><li>Q28028</li><li>P48346</li>		rs2228059	3
Q13283	10146	<ul><li>S->A at 149: Cytoplasmic; no effect on stress granule assembly</li><li>S->E at 149: Cytoplasmic and nuclear; no assembly of stress granules; no homo-oligomerization</li><li>S->A at 232: Cytoplasmic. Partially nuclear; when associated with E-149</li><li>S->E at 232: Cytoplasmic. Partially nuclear; when associated with E-149</li></ul>											1
Q13285	2516	<ul><li>K->R at 119: Loss of sumoylation; when associated with R-194</li><li>K->R at 194: Loss of sumoylation</li><li>A->F at 269: Strongly reduced transactivation</li><li>G->E at 341: Reduced transactivation. Strongly reduced transactivation; when associated with F-344</li><li>L->F at 344: Reduced transactivation. Strongly reduced transactivation; when associated with E-341</li><li>A->F at 433: Strongly reduced transactivation</li><li>Y->F at 436: Loss of transactivation; when associated with A-440</li><li>K->A at 440: Loss of transactivation; when associated with F-436</li></ul>	<li>C->S at 33: in XY sex reversal without adrenal failure; markedly impaired transcriptional activity</li><li>G->E at 35: in XY sex reversal with adrenal failure</li><li>R->H at 84: in XY sex reversal without adrenal failure; markedly impaired transcriptional activity</li><li>R->Q at 92: in XY sex reversal with adrenal failure</li><li>G->A at 146: in dbSNP:rs1110061</li><li>R->L at 255: in adrenocortical insufficiency without ovarian defect, MIM: 184757</li>	sumoylation	GO:0016925						Adrenocortical insufficiency without ovarian defect [MIM:184757]	rs1110061	3
Q13315	472	<ul><li>D->A at 2870: Loss of kinase activity</li><li>N->K at 2875: Loss of kinase activity</li></ul>	<li>R->Q at 23: in a colorectal adenocarcinoma sample; somatic mutation</li><li>S->C at 49: in dbSNP:rs1800054</li><li>D->E at 126: in dbSNP rsrs2234997</li><li>D->H at 140: in dbSNP rsrs55633650</li><li>V->L at 182: in dbSNP rsrs3218707</li><li>K->E at 224: in AT, MIM: 208900</li><li>R->Q at 250: in dbSNP rsrs56123940, MIM: 208900</li><li>P->L at 292: in AT; associated with lymphoma, MIM: 208900</li><li>I->V at 323: in AT, MIM: 208900</li><li>Y->C at 332: in B-cell chronic lymphocytic leukemia, MIM: 208900</li><li>S->F at 333: in dbSNP rsrs28904919, MIM: 208900</li><li>R->C at 337: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 208900</li><li>R->H at 337: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 208900</li><li>A->T at 350: in B-cell chronic lymphocytic leukemia, MIM: 208900</li><li>I->T at 352: in B-cell chronic lymphocytic leukemia, MIM: 208900</li><li>V->A at 410: in dbSNP rsrs56128736, MIM: 208900</li><li>N->S at 504: in dbSNP rsrs56365018, MIM: 208900</li><li>G->D at 514: in dbSNP rsrs2235000, MIM: 208900</li><li>C->Y at 540: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 208900</li><li>L->V at 546: in dbSNP rsrs2227924, MIM: 208900</li><li>F->S at 570: in AT, MIM: 208900</li><li>F->L at 582: in dbSNP rsrs2235006, MIM: 208900</li><li>YSS->FIP at 705-707: in AT; might be associated with susceptibility to cancer, MIM: 208900</li><li>S->P at 707: in dbSNP rsrs4986761, MIM: 208900</li><li>N->K at 750: in mantle cell lymphoma, MIM: 208900</li><li>N->D at 768: in AT, MIM: 208900</li><li>R->C at 785: in AT, MIM: 208900</li><li>E->Q at 848: in a lung adenocarcinoma sample; somatic mutation, MIM: 208900</li><li>F->L at 858: rare polymorphism; dbSNP:rs1800056, MIM: 208900</li><li>P->S at 872: in dbSNP rsrs3218673, MIM: 208900</li><li>R->W at 924: in dbSNP rsrs55723361, MIM: 208900</li><li>T->A at 935: in dbSNP rsrs35813135, MIM: 208900</li><li>L->R at 950: in AT, MIM: 208900</li><li>L->Q at 1001: in AT; associated with T-cell acute lymphoblastic leukemia, MIM: 208900</li><li>M->V at 1040: in B-cell non-Hodgkin lymphoma: in dbSNP rsrs3092857, MIM: 208900</li><li>P->R at 1054: in dbSNP:rs1800057, MIM: 208900</li><li>H->L at 1082: in AT, MIM: 208900</li><li>E->D at 1091: in AT, MIM: 208900</li><li>S->F at 1179: in a gastric adenocarcinoma sample; somatic mutation, MIM: 208900</li><li>M->I at 1321: in dbSNP rsrs35184530, MIM: 208900</li><li>H->Y at 1380: in dbSNP rsrs3092856, MIM: 208900</li><li>P->S at 1382: in dbSNP rsrs55859590, MIM: 208900</li><li>I->T at 1407: in T-prolymphocytic leukemia, MIM: 208900</li><li>L->F at 1420: rare polymorphism; dbSNP:rs1800058, MIM: 208900</li><li>L->P at 1420: in AT, MIM: 208900</li><li>K->N at 1454, MIM: 208900</li><li>F->S at 1463: in B-cell non-Hodgkin lymphoma, MIM: 208900</li><li>L->P at 1465: in AT, MIM: 208900</li><li>I->M at 1469: in a renal papillary cancer sample; somatic mutation, MIM: 208900</li><li>Y->C at 1475: in dbSNP rsrs34640941, MIM: 208900</li><li>P->R at 1566: in AT, MIM: 208900</li><li>V->A at 1570, MIM: 208900</li><li>N->S at 1650: in dbSNP rsrs55870064, MIM: 208900</li><li>D->H at 1682: in T-prolymphocytic leukemia, MIM: 208900</li><li>S->R at 1691: in AT and B-cell chronic lymphocytic leukemia; could be a rare polymorphism; dbSNP:rs1800059, MIM: 208900</li><li>N->T at 1739: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 208900</li><li>T->I at 1743: in AT; associated with preleukemic T-cell proliferation, MIM: 208900</li><li>AF->V at 1812-1813: in AT, MIM: 208900</li><li>D->N at 1853: common polymorphism; dbSNP:rs1801516, MIM: 208900</li><li>D->V at 1853: might contribute to B-cell chronic lymphocytic leukemia; dbSNP:rs1801673, MIM: 208900</li><li>L->H at 1910: in T-prolymphocytic leukemia, MIM: 208900</li><li>V->G at 1913: in AT, MIM: 208900</li><li>M->I at 1916: in a breast pleomorphic lobular carcinoma sample; somatic mutation, MIM: 208900</li><li>A->T at 1945: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 208900</li><li>T->R at 1953: in B-cell chronic lymphocytic leukemia, MIM: 208900</li><li>Y->C at 1961: in dbSNP rsrs56399311, MIM: 208900</li><li>S->N at 1983: in dbSNP rsrs659243, MIM: 208900</li><li>E->D at 1991: in a renal clear cell carcinoma sample; somatic mutation, MIM: 208900</li><li>D->G at 2016: in AT, MIM: 208900</li><li>G->E at 2063: in AT, MIM: 208900</li><li>A->D at 2067: in AT, MIM: 208900</li><li>V->I at 2079: in dbSNP:rs1800060, MIM: 208900</li><li>E->G at 2139: in T-prolymphocytic leukemia; somatic mutation, MIM: 208900</li><li>E->K at 2164: in T-prolymphocytic leukemia, MIM: 208900</li><li>S->C at 2218: in AT, MIM: 208900</li><li>MALR->IS at 2224-2227: in AT, MIM: 208900</li><li>R->C at 2227: in AT, MIM: 208900</li><li>CIKDILT->H at 2246-2252: in AT, MIM: 208900</li><li>A->T at 2274: in B-cell chronic lymphocytic leukemia, MIM: 208900</li><li>G->A at 2287: in dbSNP:rs1800061, MIM: 208900</li><li>L->F at 2307: in dbSNP rsrs56009889, MIM: 208900</li><li>L->P at 2332: in dbSNP rsrs4988111, MIM: 208900</li><li>I->F at 2356: in a renal clear cell carcinoma sample; somatic mutation, MIM: 208900</li><li>T->S at 2396: in T-prolymphocytic leukemia, MIM: 208900</li><li>S->L at 2408: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 208900</li><li>K->KK at 2418: in mantle cell lymphoma, MIM: 208900</li><li>A->P at 2420: in B-cell chronic lymphocytic leukemia, MIM: 208900</li><li>E->G at 2423: in mantle cell lymphoma, MIM: 208900</li><li>V->G at 2424: in AT, B-cell chronic lymphocytic leukemia and T-prolymphocytic leukemia; associated with increased risk for breast cancer: in dbSNP rsrs28904921, MIM: 208900</li><li>Missing  at 2427-2428: in AT; associated with T-prolymphocytic leukemia, MIM: 208900</li><li>T->I at 2438, MIM: 208900</li><li>Q->P at 2442: in T-prolymphocytic leukemia; also in a lung adenocarcinoma sample; somatic mutation, MIM: 208900</li><li>R->Q at 2443: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 208900</li><li>C->R at 2464: in dbSNP rsrs55801750, MIM: 208900</li><li>Y->D at 2470: in AT, MIM: 208900</li><li>R->G at 2486: in T-prolymphocytic leukemia, MIM: 208900</li><li>W->R at 2491: in AT, MIM: 208900</li><li>L->R at 2492: in dbSNP rsrs56399857, MIM: 208900</li><li>Missing  at 2546-2548: in AT, T-prolymphocytic leukemia and T-cell acute lymphoblastic leukemia, MIM: 208900</li><li>H->D at 2554: in AT, MIM: 208900</li><li>DA->EP at 2625-2626: in AT, MIM: 208900</li><li>D->Q at 2625: in AT; requires 2 nucleotide substitutions, MIM: 208900</li><li>L->P at 2656: in AT; partial functional loss, MIM: 208900</li><li>Missing  at 2662: in AT, MIM: 208900</li><li>Missing  at 2663: in AT, MIM: 208900</li><li>T->A at 2666: in a lung adenocarcinoma sample; somatic mutation, MIM: 208900</li><li>E->G at 2668: in AT, MIM: 208900</li><li>G->A at 2695: in T-prolymphocytic leukemia and B-cell chronic lymphocytic leukemia, MIM: 208900</li><li>I->R at 2702: in AT, MIM: 208900</li><li>R->H at 2719: in dbSNP rsrs55982963, MIM: 208900</li><li>L->R at 2722: in T-prolymphocytic leukemia, MIM: 208900</li><li>D->G at 2725: in T-prolymphocytic leukemia, MIM: 208900</li><li>D->V at 2725: in T-prolymphocytic leukemia, MIM: 208900</li><li>A->V at 2726: in AT, MIM: 208900</li><li>F->L at 2732: in T-prolymphocytic leukemia, MIM: 208900</li><li>G->S at 2765: may contribute to breast cancer, MIM: 208900</li><li>Missing  at 2810: in T-prolymphocytic leukemia, MIM: 208900</li><li>C->Y at 2824: in AT, MIM: 208900</li><li>F->C at 2827: in AT; mild: in dbSNP rsrs28942101, MIM: 208900</li><li>P->L at 2829: in AT, MIM: 208900</li><li>R->C at 2832: in AT and B-cell non-Hodgkin lymphoma, MIM: 208900</li><li>P->R at 2842: in a lung adenocarcinoma sample; somatic mutation, MIM: 208900</li><li>R->P at 2849: in AT, MIM: 208900</li><li>SV->RI at 2855-2856: in AT, MIM: 208900</li><li>S->R at 2855: in AT, MIM: 208900</li><li>Missing  at 2860: in AT, MIM: 208900</li><li>G->R at 2867: in AT, MIM: 208900</li><li>D->N at 2870: in dbSNP rsrs55798854, MIM: 208900</li><ul><li>D->A at 2870: Loss of kinase activity</li></ul><li>RH->S at 2871-2872: in T-prolymphocytic leukemia, MIM: 208900</li></ul><li>L->V at 2890: in T-prolymphocytic leukemia, MIM: 208900</li></ul><li>E->G at 2904: in AT, MIM: 208900</li></ul><li>R->G at 2909: in AT, MIM: 208900</li></ul><li>D->N at 3003: in dbSNP rsrs1137889, MIM: 208900</li></ul><li>A->P at 3006: in T-prolymphocytic leukemia, MIM: 208900</li></ul><li>R->C at 3008: in AT, T-prolymphocytic leukemia and mantle cell lymphoma, MIM: 208900</li></ul><li>R->H at 3008: in B-cell chronic lymphocytic leukemia, MIM: 208900</li></ul><li>K->N at 3018: in B-cell chronic lymphocytic leukemia, MIM: 208900</li></ul>	T-cell proliferation	GO:0042098	kinase activity	GO:0016301				Ataxia telangiectasia (AT) [MIM:208900]	<li>rs55723361</li><li>rs55633650</li><li>rs1800059</li><li>rs1800056</li><li>rs1800058</li><li>rs28942101</li><li>rs1800057</li><li>rs56399311</li><li>rs4986761</li><li>rs56365018</li><li>rs1800054</li><li>rs55798854</li><li>rs35813135</li><li>rs659243</li><li>rs1801673</li><li>rs3092857</li><li>rs3092856</li><li>rs2227924</li><li>rs28904919</li><li>rs3218707</li><li>rs56128736</li><li>rs4988111</li><li>rs35184530</li><li>rs56009889</li><li>rs1800061</li><li>rs1800060</li><li>rs56123940</li><li>rs55801750</li><li>rs2235000</li><li>rs34640941</li><li>rs2235006</li><li>rs3218673</li><li>rs55870064</li><li>rs56399857</li><li>rs2234997</li><li>rs55982963</li><li>rs1801516</li><li>rs28904921</li><li>rs55859590</li><li>rs1137889</li>	4
Q13352	23421	<ul><li>L->A at 9: Decreased interaction with nuclear receptors</li><li>S->A at 28: Loss of repressor function</li><li>Missing at 63-66: Abolishes localization to nucleus</li><li>KRK->AAA at 63-65: Abolishes localization to nucleus</li><li>L->R at 89: Abolishes dimerization, but not interactions with nuclear receptors; when associated with R-96</li><li>L->R at 96: Abolishes dimerization, but not interactions with nuclear receptors; when associated with R-89</li><li>LKAIL->AKAAA at 172-176: Abolishes interaction with nuclear receptors</li></ul>	<li>I->V at 30: in dbSNP:rs1058057</li>	localization	GO:0051179			nucleus	GO:0005634			rs1058057	3
Q13363	1487	<ul><li>C->A at 134: Strongly reduces E1A binding; when associated with A-138; A-141 and A-150</li><li>N->A at 138: Strongly reduces E1A binding; when associated with A-134; A-141 and A-150</li><li>RR->AA at 141-142: Strongly reduces E1A binding; when associated with A-163 and A-171</li><li>R->A at 141: Strongly reduces E1A binding; when associated with A-134; A-138 and A-150</li><li>L->A at 150: Strongly reduces E1A binding; when associated with A-134; A-138 and A-141</li><li>R->A at 163: Strongly reduces E1A binding; when associated with A-141; A-142 and A-171</li><li>R->A at 171: Strongly reduces E1A binding; when associated with A-141; A-142 and A-163</li><li>G->V at 181: Strongly reduces E1A binding; when associated with V-183 and A-204</li><li>G->V at 183: Strongly reduces E1A binding; when associated with V-181 and A-204</li><li>D->A at 204: Strongly reduces E1A binding; when associated with V-181 and V-183</li><li>R->A at 266: Strongly reduces E1A binding; when associated with A-290; A-295 and A-315</li><li>D->A at 290: Strongly reduces E1A binding; when associated with A-266; A-295 and A-315</li><li>E->A at 295: Strongly reduces E1A binding; when associated with A-266; A-290 and A-315</li><li>H->A at 315: Strongly reduces E1A binding; when associated with A-266; A-290 and A-295</li><li>S->A at 422: Abolishes phosphorylation by HIPK2 and prevents UV-induced clearance</li></ul>		phosphorylation	GO:0016310	binding	GO:0005488			Q9H2X6			1
Q13418	3611	<ul><li>H->D at 99: Alters interaction with LIMS1</li><li>E->K at 359: Inactivation of ILK</li></ul>								<li>Q3SWY2</li><li>P57044</li><li>P48059</li><li>Q5R5V4</li><li>Q13418</li>			1
Q13426	7518	<ul><li>K->R at 140: No change in sumoylation</li><li>K->R at 210: Abolishes sumoylation. No nuclear location. 5-fold decrease in recombination efficiency</li></ul>	<li>S->C at 12: in dbSNP:rs28383138</li><li>A->T at 56: in dbSNP:rs28383151</li><li>I->T at 134: in dbSNP:rs28360135</li><li>E->Q at 142: in dbSNP:rs28360136</li><li>Q->P at 240: in dbSNP:rs2974446</li><li>A->S at 247: in dbSNP:rs3734091</li>	sumoylation	GO:0016925							<li>rs28360136</li><li>rs3734091</li><li>rs28360135</li><li>rs28383151</li><li>rs2974446</li><li>rs28383138</li>	3
Q13439	2803	<ul><li>Y->A at 2177: Abolishes Golgi localization</li><li>Y->F at 2177: No effect</li><li>V->A at 2181: Abolishes Golgi localization</li><li>F->A at 2183: Abolishes Golgi localization</li><li>M->A at 2186: Abolishes Golgi localization</li><li>T->A at 2193: Abolishes Golgi localization</li><li>M->A at 2194: Abolishes Golgi localization</li><li>V->A at 2197: Abolishes Golgi localization</li><li>I->A at 2198: Abolishes Golgi localization</li><li>L->A at 2202: Abolishes Golgi localization</li><li>F->A at 2204: Abolishes Golgi localization</li><li>I->A at 2212: Abolishes Golgi localization</li></ul>	<li>Q->K at 1028: in dbSNP:rs11718848</li><li>N->S at 1552: in dbSNP:rs9840779</li><li>R->S at 2058: in dbSNP:rs11924014</li>	localization	GO:0051179							<li>rs11924014</li><li>rs9840779</li><li>rs11718848</li>	3
Q13464	6093	<ul><li>D->A at 1113: Abolishes cleavage by caspase-3</li></ul>	<li>S->N at 108: in dbSNP rsrs55811609</li><li>T->S at 773: in dbSNP rsrs45562542</li><li>T->P at 1112: in dbSNP rsrs35881519</li><li>P->S at 1193: in a lung neuroendocrine carcinoma sample; somatic mutation</li><li>Q->E at 1217</li><li>R->Q at 1262</li><li>C->R at 1264</li>									<li>rs45562542</li><li>rs55811609</li><li>rs35881519</li>	3
Q13501	8878	<ul><li>K->A at 7: Loss of interactions with PRKCZ, PRCKI and NBR1. Loss of dimerization; when associated with A-69</li><li>Y->F at 9: No effect on interaction with LCK</li><li>K->A at 13: No effect on interaction with PRKCI</li><li>RR->AA at 21-22: Loss of interaction with PRKCI. Alters dimerization</li><li>Y->A at 67: No effect on interaction with PRKCZ</li><li>D->A at 69: No effect on interactions with PRKCZ, PRKCI and NBR1. Loss of dimerization; when associated with A-7</li><li>D->A at 71: No effect on interaction with PRKCI</li><li>D->A at 73: No effect on interactions with PRKCZ and PRKCI</li><li>D->A at 80: No effect on interaction with PRKCI</li><li>E->A at 82: No effect on interaction with PRKCI</li><li>L->V at 398: No effect on polyubiquitin-binding</li><li>F->V at 406: Loss of polyubiquitin-binding</li><li>L->V at 413: No effect on polyubiquitin-binding</li><li>L->V at 417: Loss of polyubiquitin-binding</li><li>I->V at 431: Partial loss of polyubiquitin-binding</li></ul>	<li>A->V at 117</li><li>E->Q at 274</li><li>P->L at 387: in PDB, MIM: 602080</li><li>P->L at 392: in PDB; no effect on polyubiquitin-binding, MIM: 602080</li><li>S->P at 399: in PDB, MIM: 602080</li><li>M->T at 404: in PDB, MIM: 602080</li><li>M->V at 404: in PDB; loss of polyubiquitin-binding, MIM: 602080</li><li>G->S at 411: in PDB; no effect on polyubiquitin-binding, MIM: 602080</li><li>G->R at 425: in PDB; loss of polyubiquitin-binding, MIM: 602080</li>			binding	GO:0005488			<li>Q5RC94</li><li>Q5R4K9</li><li>P41743</li><li>P06239</li><li>P42683</li><li>Q5PXS1</li><li>Q14596</li><li>Q95KR7</li><li>O19111</li><li>Q05513</li>	Sporadic and familial Paget disease of bone (PDB) [MIM:602080]		3
Q13522	5502	<ul><li>T->A at 35: No activity</li><li>T->D at 35: 1000-fold reduction in activity, inhibits equally PP1 and PP2A</li></ul>	<li>G->E at 109: in dbSNP:rs1249958</li><li>G->D at 147: in dbSNP:rs34376731</li>							<li>P48488</li><li>P80074</li><li>Q63447</li><li>P30366</li><li>P50391</li><li>Q61041</li><li>Q06009</li><li>P23696</li><li>Q9ZSE4</li><li>P48487</li><li>P22198</li>		<li>rs34376731</li><li>rs1249958</li>	3
Q13526	5300	<ul><li>Y->A at 23: Reduced affinity for MPHOSPH1</li></ul>											1
Q13535	545	<ul><li>K->R at 2327: Abolishes kinase activity</li><li>D->A at 2475: Abolishes kinase activity; increases sensitivity to IR and impairs translocation to nuclear foci upon DNA damage</li><li>D->E at 2494: Abolishes kinase activity; reduces cell viability, augments sensitivity to IR and UV</li></ul>	<li>T->A at 64: in dbSNP rsrs35306038</li><li>H->Y at 90: in dbSNP rsrs28897763</li><li>M->T at 211: in dbSNP:rs2227928</li><li>K->N at 297: in dbSNP:rs2229033</li><li>V->I at 316: in dbSNP:rs28897764</li><li>V->M at 959: in dbSNP:rs28910271</li><li>Y->H at 1087: in dbSNP rsrs34253059</li><li>S->G at 1213: in dbSNP rsrs34766606</li><li>A->P at 1488: in a lung squamous cell carcinoma sample; somatic mutation</li><li>I->V at 1526: in dbSNP:rs34124242</li><li>S->N at 1607: in dbSNP rsrs55724025</li><li>N->S at 1612: in dbSNP rsrs55894265</li><li>A->G at 2002: in a lung adenocarcinoma sample; somatic mutation</li><li>G->A at 2120: in dbSNP rsrs35134774</li><li>Y->D at 2132: in dbSNP:rs28910273</li><li>S->I at 2233: in a lung large cell carcinoma sample; somatic mutation</li><li>R->Q at 2425: in dbSNP:rs2229032</li><li>P->A at 2434: in dbSNP:rs33972295</li><li>E->K at 2438: in a breast pleomorphic lobular carcinoma sample; somatic mutation</li><li>E->Q at 2537: in a breast infiltrating ductal carcinoma sample; somatic mutation</li>			kinase activity	GO:0016301					<li>rs33972295</li><li>rs28910271</li><li>rs35134774</li><li>rs28910273</li><li>rs34124242</li><li>rs55724025</li><li>rs55894265</li><li>rs2229033</li><li>rs2229032</li><li>rs2227928</li><li>rs34253059</li><li>rs35306038</li><li>rs28897763</li><li>rs34766606</li><li>rs28897764</li>	3
Q13546	8737	<ul><li>K->A at 45: Abolishes kinase activity</li><li>D->K at 324: Abolishes cleavage by caspase-8</li></ul>	<li>A->V at 64: in a colorectal adenocarcinoma sample; somatic mutation</li><li>V->I at 81: in a colorectal adenocarcinoma sample; somatic mutation</li><li>A->V at 220: in a colorectal adenocarcinoma sample; somatic mutation</li><li>E->K at 234: in dbSNP:rs17548383</li><li>A->S at 404: in dbSNP rsrs34872409</li><li>A->V at 443: in dbSNP rsrs35722193</li><li>A->V at 569: in dbSNP rsrs55861377</li>			kinase activity	GO:0016301					<li>rs17548383</li><li>rs55861377</li><li>rs35722193</li><li>rs34872409</li>	3
Q13547	3065	<ul><li>Missing at 391-482: Strongly decreases deacetylase activity, and disrupts interaction with NuRD and SIN3 complexes</li><li>S->A at 421: Strongly decreases deacetylase activity, and disrupts interaction with NuRD and SIN3 complexes</li><li>S->D,E at 421: Slightly decreases deacetylase activity</li><li>S->A at 423: Strongly decreases deacetylase activity, and disrupts interaction with NuRD and SIN3 complexes</li><li>S->D,E at 423: Decreases deacetylase activity</li><li>E->A at 424: Slightly decreases deacetylase activity, no effect on interaction with NuRD and SIN3 complexes</li><li>E->A at 425: No effect on deacetylase activity, no effect on interaction with NuRD and SIN3 complexes</li><li>E->A at 426: Decreases deacetylase activity, and disrupts interaction with NuRD and SIN3 complexes</li></ul>				deacetylase activity	GO:0019213			P22579			1
Q13564	8883	<ul><li>D->A at 331: Impairs the formation of the NEDD8-UBA3 thioester</li></ul>	<li>S->F at 101: in dbSNP:rs363212</li>							<li>Q15843</li><li>P31252</li><li>Q5R4A0</li><li>Q9SHE7</li><li>P0C031</li><li>P0C030</li><li>Q4PLJ0</li><li>P61282</li><li>Q8TBC4</li><li>Q99344</li><li>P0C032</li>		rs363212	3
Q13569	6996	<ul><li>R->A at 281: Restores the DNA-binding ability of the sumoylated form</li><li>E->Q at 310: Restores the DNA-binding ability of the sumoylated form</li><li>F->A at 315: Restores the DNA-binding ability of the sumoylated form</li></ul>	<li>G->S at 199: in dbSNP:rs4135113</li><li>V->M at 367: in dbSNP rsrs2888805</li><li>G->E at 381: in dbSNP:rs3953597</li>			DNA-binding	GO:0003677					<li>rs4135113</li><li>rs3953597</li><li>rs2888805</li>	3
Q13572	3705	<ul><li>K->A at 18: Loss of kinase activity</li><li>H->A at 58: No effect</li><li>K->A at 59: Loss of kinase activity</li><li>R->A at 106: Loss of kinase activity</li><li>K->A at 157: Loss of kinase activity</li><li>H->Q at 162: Loss of kinase activity</li><li>G->A,P at 163: Loss of kinase activity</li><li>G->A at 163: No effect</li><li>H->A,Q at 167: Loss of kinase activity</li><li>Q->A at 188: No effect</li><li>H->A at 193: Loss of kinase activity</li><li>K->A at 199: Loss of kinase activity</li><li>R->A at 212: Loss of kinase activity</li><li>S->A at 214: Loss of kinase activity</li><li>L->A at 215: No effect</li><li>D->A at 281: Loss of kinase activity</li><li>D->A at 295: Loss of kinase activity</li><li>N->A,L at 297: Loss of kinase activity</li><li>N->D at 297: Induces a strong reduction in kinase activity</li><li>G->A at 301: Loss of kinase activity</li></ul>				kinase activity	GO:0016301						1
Q13574	8525	<ul><li>TA->NS at 1115-1116: Loss of interaction with SNTG1</li></ul>	<li>Q->R at 21: in dbSNP:rs1317826</li>							Q9NSN8		rs1317826	3
Q13586	6786	<ul><li>D->A,N at 76: Increases Ca(2+) influx even when Ca(2+) stores are not depleted</li><li>D->N at 78: Increases Ca(2+) influx even when Ca(2+) stores are not depleted</li><li>E->A,Q at 87: Increases Ca(2+) influx through activation of CRAC channels, even when Ca(2+) stores are not depleted</li></ul>											1
Q13614	8898	<ul><li>C->S at 417: Loss of activity</li><li>D->A at 419: No effect</li><li>D->A at 422: Loss of activity</li><li>L->Y at 607: Reduces homodimerization and interaction with SBF1</li></ul>	<li>K->T at 3: in dbSNP:rs3824874</li><li>R->W at 283: in CMT4B1, MIM: 601382</li><li>N->S at 545: in dbSNP:rs558018, MIM: 601382</li>							O95248	Charcot-Marie-Tooth disease type 4B1 (CMT4B1) [MIM:601382]	<li>rs3824874</li><li>rs558018</li>	3
Q13615	8897	<ul><li>C->S at 413: Loss of activity</li></ul>	<li>V->L at 221: in a breast cancer sample; somatic mutation</li>										3
Q13617	8453	<ul><li>K->R at 621: No effect on conjugation with NEDD8</li><li>K->R at 689: Loss of conjugation with NEDD8</li><li>K->R at 719: No effect on conjugation with NEDD8</li></ul>	<li>N->S at 109: in dbSNP:rs1131503</li>	conjugation	GO:0000746					<li>Q15843</li><li>Q9SHE7</li><li>P0C031</li><li>P0C030</li><li>Q4PLJ0</li><li>P61282</li><li>P0C032</li>		rs1131503	3
Q13619	8451	<ul><li>LYQAV->AAAAA at 86-90: Largely reduces interaction with DDB1; abolishes interaction with DDB2</li><li>WQDH->AADA at 139-142: Largely reduces interaction with DDB1; abolishes interaction with DDB2</li></ul>	<li>K->R at 614: in dbSNP:rs2302757</li><li>K->R at 644: in dbSNP:rs2302757</li>							<li>Q16531</li><li>Q6QNU4</li><li>Q6E7D1</li><li>Q92466</li><li>P33194</li>		rs2302757	3
Q13625	7159	<ul><li>W->K at 1098: Loss of interaction with APC2</li></ul>								<li>Q9UJX6</li><li>Q8BZQ7</li><li>Q12440</li><li>P02655</li><li>P34514</li>			1
Q13636	11031	<ul><li>Q->L at 64: No change in GTPase activity</li></ul>				GTPase activity	GO:0003924						1
Q13637	10981	<ul><li>T->N at 39: Decreased GTP-binding activity</li><li>Q->L at 85: No change in GTPase activity</li><li>A->F at 185: Abolishes binding to protein kinase A type II regulatory subunit</li><li>L->P at 188: Abolishes binding to protein kinase A type II regulatory subunit</li></ul>				<li>binding</li><li>GTPase activity</li><li>GTP-binding</li>	<li>GO:0005488</li><li>GO:0003924</li><li>GO:0005525</li>			<li>Q05608</li><li>Q9RI12</li>			1
Q13671	9610	<ul><li>S->A at 351: Abolishes phosphorylation by PKD and the interaction with 14-3-3 proteins</li></ul>		phosphorylation	GO:0016310					<li>Q15139</li><li>O96436</li>			1
Q13772	8031	<ul><li>LL->AA at 95-96: Decreased interaction with PPAR and RXR</li></ul>	<li>S->L at 94</li><li>F->L at 154</li><li>C->R at 350</li><li>P->R at 474: in dbSNP:rs1132111</li><li>L->P at 561</li>			RXR	GO:0004886			Q07869		rs1132111	3
Q13794	5366	<ul><li>L->A at 29: Reduced interaction with BAX</li><li>L->E at 29: Loss of interaction with MCL1 and of increased MCL1 degradation; when associated with E-32 and E-32</li><li>F->E at 32: Loss of interaction with MCL1 and of increased MCL1 degradation; when associated with E-29 and E-36</li><li>F->I at 32: Alters specificity of protein interaction and enhances pro-apoptotic activity; when associated with E-35</li><li>K->E at 35: Alters specificity of protein interaction and enhances pro-apoptotic activity; when associated with I-32</li><li>L->E at 36: Loss of interaction with MCL1 and of increased MCL1 degradation; when associated with E-29 and E-32</li></ul>								<li>Q07815</li><li>Q8HYS5</li><li>Q07812</li><li>Q07814</li><li>O02703</li><li>Q07820</li><li>P55269</li><li>Q7YRZ9</li>			1
Q13825	549	<ul><li>K->N at 105: Abolishes RNA-binding; when associated with E-109 and Q-113</li><li>K->E at 109: Abolishes RNA-binding; when associated with N-105 and Q-113</li><li>K->Q at 113: Abolishes RNA-binding; when associated with N-105 and E-109</li></ul>	<li>A->V at 240: in MGA1, MIM: 250950</li>			RNA-binding	GO:0003723			P53050	3-methylglutaconic aciduria type 1 (MGA1) [MIM:250950]		3
Q13838	7919	<ul><li>C->A at 198: No effect on ATPase activity</li></ul>				ATPase activity	GO:0016887						1
Q13882	5753	<ul><li>W->A at 44: Strong decrease in STAP2 phosphorylation</li><li>Y->A at 66: Decrease in STAP2 phosphorylation</li><li>R->L at 105: Decrease in STAP2 phosphorylation</li><li>K->M at 219: Abolishes kinase activity and cell transformation, and no more phosphorylation of STAP2</li><li>Y->F at 447: Decrease in transforming potential and increase in the kinase activity level</li></ul>	<li>L->F at 16: in a renal papillary sample; somatic mutation</li><li>A->T at 436: in dbSNP rsrs56145017</li>	phosphorylation	GO:0016310	kinase activity	GO:0016301			Q9UGK3		rs56145017	3
Q13888	2966	<ul><li>C->A at 291: Reconstituted TFIIH complex lacks p62 and has no transcriptional activity</li><li>C->A at 308: Reconstituted TFIIH complex lacks p62 and has no transcriptional activity</li><li>C->A at 345: No effect on the transcriptional activity of the reconstituted TFIIH complex</li><li>C->A at 360: No effect on the transcriptional activity of the reconstituted TFIIH complex</li><li>C->A at 363: No effect on the transcriptional activity of the reconstituted TFIIH complex</li><li>H->A at 376: No effect on the transcriptional activity of the reconstituted TFIIH complex</li><li>H->A at 380: No effect on the transcriptional activity of the reconstituted TFIIH complex</li><li>C->A at 382: No effect on the transcriptional activity of the reconstituted TFIIH complex</li></ul>	<li>I->M at 151</li><li>V->L at 236</li>							<li>Q9JGK8</li><li>Q8JJX0</li><li>Q8QZ72</li><li>O90371</li><li>P09592</li><li>P89946</li><li>P03315</li><li>P03316</li><li>Q9FKA4</li><li>Q8QL52</li><li>P13890</li><li>Q5WQY5</li><li>Q306W7</li><li>P19109</li><li>P49847</li><li>P13897</li><li>Q5Y388</li><li>P27285</li><li>P36331</li><li>P36332</li><li>P27284</li><li>P08491</li><li>P36330</li><li>Q306W5</li><li>P36329</li><li>Q5XXP3</li><li>Q80S27</li><li>P08768</li><li>Q8JUX5</li><li>O90369</li><li>Q86925</li><li>P22056</li><li>Q4QXJ7</li><li>P05674</li>			3
Q13936	775	<ul><li>E->K at 363: Loss of selectivity for divalent over monovalent cations</li><li>G->F at 954: Affects voltage-dependent inhibition by dihydropyridines; when associated with I-958</li><li>Y->I at 958: Affects voltage-dependent inhibition by dihydropyridines; when associated with F-954</li><li>E->K at 1135: Loss of selectivity for divalent over monovalent cations</li><li>E->K at 1464: Loss of selectivity for divalent over monovalent cations</li></ul>	<li>A->V at 39: in BRS3; loss of function, MIM: 611875</li><li>Q->R at 84: in dbSNP:rs1051345, MIM: 611875</li><li>I->L at 391: in dbSNP:rs1051356, MIM: 611875</li><li>G->S at 402: in TS, MIM: 601005</li><li>G->R at 406: in TS; causes a nearly complete loss of voltage-dependent channel inactivation, MIM: 601005</li><li>G->R at 490: in BRS3; loss of function, MIM: 611875</li><li>A->T at 752, MIM: 611875</li><li>A->T at 2169, MIM: 611875</li>							<li>Q6H2Y3</li><li>P35371</li><li>P32247</li><li>O97967</li>	<li>Brugada syndrome type 3 (BRS3) [MIM:611875]</li><li>Timothy syndrome (TS) [MIM:601005]</li>	<li>rs1051345</li><li>rs1051356</li>	3
Q13948	1523	<ul><li>Y->L at 624: Retained in the endoplasmic reticulum</li><li>H->L at 629: No effect on subcellular location</li></ul>	<li>A->T at 464: in dbSNP:rs803064</li><li>S->G at 490: in a breast cancer sample; somatic mutation</li><li>I->V at 545: in dbSNP:rs2230103</li><li>R->C at 609: in a colorectal cancer sample; somatic mutation</li>					endoplasmic reticulum	GO:0005783			<li>rs2230103</li><li>rs803064</li>	3
Q14012	8536	<ul><li>K->A at 49: Loss of activity</li><li>T->A at 177: Loss of activation by CaMKK1</li><li>T->D at 177: Partial activation in absence of CAMKK1</li></ul>	<li>P->S at 217: in a metastatic melanoma sample; somatic mutation</li><li>E->K at 361: in dbSNP rsrs56033923</li>							<li>Q8VBY2</li><li>P97756</li><li>Q8N5S9</li>		rs56033923	3
Q14019	23406	<ul><li>K->A at 75: Abolishes actin-binding activity</li><li>K->A at 130: No effect on 5LO-binding activity</li><li>K->A at 131: Abolishes 5LO-binding activity</li><li>K->E at 131: Abolishes 5LO-binding activity</li><li>K->R at 131: No effect on 5LO-binding activity</li></ul>				binding	GO:0005488			<li>Q92192</li><li>Q92193</li><li>P53499</li><li>P26183</li><li>P53498</li><li>O13419</li><li>Q9P4D1</li><li>P48465</li><li>P53455</li><li>Q39596</li><li>Q39758</li><li>P26182</li><li>P80709</li><li>Q9UVX4</li><li>P78711</li><li>P53689</li><li>O17320</li><li>P30161</li><li>P17128</li><li>P45521</li><li>P12527</li><li>P81085</li><li>P20904</li><li>P45520</li><li>Q6TCF2</li><li>Q99023</li><li>Q75D00</li><li>P51775</li><li>P10365</li><li>P60011</li><li>P60010</li><li>Q8SWN8</li><li>O16808</li><li>P02577</li><li>P10989</li><li>P68555</li><li>Q05214</li><li>Q8X119</li><li>O65316</li><li>O65315</li><li>O65314</li><li>P53491</li><li>P91754</li><li>P13363</li><li>P09917</li><li>P11426</li><li>O81221</li><li>Q11212</li><li>P50138</li><li>P53477</li><li>P53476</li><li>P51399</li><li>P60009</li><li>P53502</li><li>Q2U7A3</li><li>P53500</li><li>Q9UVZ8</li><li>P48999</li><li>O00937</li><li>P14235</li><li>Q9UVF3</li><li>Q24733</li><li>P90689</li><li>P24902</li><li>O74258</li>			1
Q14028	1258	<ul><li>L->E at 226: Loss of calcium/calmodukin modulation</li></ul>											1
Q14032	570	<ul><li>C->A at 235: Abolishes activity</li><li>C->S at 235: Lowers N-acyltransferase activity; enhanced thioesterase activity presumably dependent on the formation of a bile acid-enzyme covalent intermediate via a thioester bond</li><li>D->A at 328: Abolishes activity</li><li>H->A at 362: Abolishes activity</li><li>C->A at 372: Retains activity</li><li>Q->K at 417: Translocation to peroxisomes</li></ul>	<li>R->Q at 20: in dbSNP:rs1572983</li><li>M->V at 76: in FHCA: in dbSNP rsrs28937579, MIM: 607748</li>					peroxisomes	GO:0005777	<li>P05521</li><li>Q9S3Z2</li><li>P19197</li><li>P21309</li><li>P23148</li><li>Q06878</li><li>P41302</li><li>Q7N576</li><li>Q9AJA7</li>	Familial hypercholanemia (FHCA) [MIM:607748]	<li>rs1572983</li><li>rs28937579</li>	3
Q14108	950	<ul><li>L->A,G,D,V at 475: Prevents the targeting of the protein to lysosomes</li><li>L->I at 475: Some loss in the efficiency of targeting of the protein to lysosomes</li><li>I->A,V at 476: Does not prevent the targeting of the protein to lysosomes completely</li><li>I->D,E,G at 476: Prevents the targeting of the protein to lysosomes</li><li>I->L at 476: Normal targeting of the protein to lysosomes</li><li>R->A,E,G,K,Q at 477: Normal targeting of the protein to lysosomes</li><li>T->G,I,S,V at 478: Normal targeting of the protein to lysosomes</li></ul>						lysosomes	GO:0005764				1
Q14145	9817	<ul><li>IEG->AAA at 125-127: Increases ubiquitination and proteolytic degradation</li><li>C->S at 151: Constitutive repression of NFE2L2-dependent gene expression. Promotes increased degradation of NFE2L2. Resistance of ubiquitination of PGAM5 to inhibition by oxidative stress and sulforaphane</li><li>YQI->AAA at 162-164: Increases ubiquitination and proteolytic degradation</li><li>C->S at 273: Abolishes repression of NFE2L2-dependent gene expression. Slows down degradation of NFE2L2</li><li>C->S at 288: Abolishes repression of NFE2L2-dependent gene expression. Slows down degradation of NFE2L2</li><li>L->A at 308: Loss of export from nucleus; when associated with A-310</li><li>L->A at 310: Loss of export from nucleus; when associated with A-308</li><li>Y->A at 334: Loss of interaction with NFE2L2. Strongly reduces repression of NFE2L2-dependent gene expression. Loss of interaction with PGAM5</li><li>R->A at 380: Loss of interaction with NFE2L2. Abolishes repression of NFE2L2-dependent gene expression</li><li>N->A at 382: Loss of interaction with NFE2L2. Strongly reduces repression of NFE2L2-dependent gene expression</li><li>R->A at 415: Loss of interaction with NFE2L2. Abolishes repression of NFE2L2-dependent gene expression. Loss of interaction with PGAM5</li><li>H->A at 436: Loss of interaction with NFE2L2. Abolishes repression of NFE2L2-dependent gene expression</li><li>F->A at 478: Abolishes repression of NFE2L2-dependent gene expression</li><li>R->A at 483: Loss of interaction with NFE2L2. Abolishes repression of NFE2L2-dependent gene expression. Loss of interaction with PGAM5</li><li>Y->A at 525: Loss of interaction with NFE2L2. Strongly reduces repression of NFE2L2-dependent gene expression</li><li>Y->A at 572: Loss of interaction with NFE2L2. Strongly reduces repression of NFE2L2-dependent gene expression. Loss of interaction with PGAM5</li></ul>	<li>C->Y at 23: in a breast cancer sample; somatic mutation</li><li>V->F at 167: in a lung adenocarcinoma patient</li><li>D->H at 236: in a NSCLC cell line</li><li>Q->L at 284: in a lung adenocarcinoma patient</li><li>G->C at 333: in a NSCLC cell line; strongly reduces interaction with NFE2L2 and reduces repression of NFE2L2-dependent gene expression</li><li>D->N at 349: in dbSNP:rs1048289</li><li>G->S at 350: in a NSCLC cell line</li><li>G->C at 364: in a lung adenocarcinoma cell line; also in NSCLC cell lines; may be a polymorphism; strongly reduces interaction with NFE2L2 and reduces repression of NFE2L2-dependent gene expression</li><li>G->C at 430: in a lung adenocarcinoma patient; somatic mutation; strongly reduces interaction with NFE2L2 and reduces repression of NFE2L2-dependent gene expression</li><li>A->V at 522: in a breast cancer sample; somatic mutation</li>	export from nucleus	GO:0051168					Q16236		rs1048289	3
Q14164	9641	<ul><li>K->A at 38: Loss of kinase activity</li><li>E->A at 168: Slight decrease of kinase activity</li><li>S->A at 172: Loss of autophosphorylation and of kinase activity</li><li>S->E at 172: Decrease in kinase activity</li></ul>	<li>E->K at 128: in dbSNP rsrs41296028</li><li>A->T at 371: in dbSNP:rs17021877</li><li>T->M at 483: in dbSNP rsrs52817862</li><li>E->D at 515: in dbSNP rsrs41299015</li><li>I->M at 543: in dbSNP rsrs41299037</li><li>A->V at 602: in dbSNP:rs12059562</li><li>G->E at 660: in dbSNP rsrs55822317</li><li>P->L at 713: in dbSNP:rs3748022</li>	autophosphorylation	GO:0046777	kinase activity	GO:0016301					<li>rs55822317</li><li>rs12059562</li><li>rs17021877</li><li>rs41299015</li><li>rs3748022</li><li>rs41299037</li><li>rs52817862</li><li>rs41296028</li>	3
Q14185	1793	<ul><li>YI->AA at 1401-1402: Abolishes Rac GEF activity</li><li>ISP->AAA at 1487-1489: Abolishes Rac GEF activity</li></ul>								<li>Q9NR83</li><li>P31750</li>			1
Q14190	6493	<ul><li>R->A,G at 367: Reduced nuclear translocation</li><li>K->A at 368: No effect on nuclear translocation</li><li>L->A at 369: No effect on nuclear translocation</li><li>V->A at 370: No effect on nuclear translocation</li><li>K->A at 371: No effect on nuclear translocation</li><li>P->A at 372: No effect on nuclear translocation</li><li>K->A,G at 373: Reduced nuclear translocation</li><li>T->A at 375: No effect on nuclear translocation</li><li>K->A at 376: No effect on nuclear translocation</li><li>M->A at 377: No effect on nuclear translocation</li><li>K->G at 378: No effect on nuclear translocation</li><li>T->A at 379: No effect on nuclear translocation</li><li>K->A at 380: No effect on nuclear translocation</li><li>L->A at 381: No effect on nuclear translocation</li><li>R->A at 382: No effect on nuclear translocation</li><li>T->A at 383: No effect on nuclear translocation</li><li>P->A at 385: Reduced nuclear translocation</li><li>Y->A at 386: Reduced nuclear translocation</li></ul>	<li>L->M at 483: in dbSNP:rs2073601</li>									rs2073601	3
Q14207	4863	<ul><li>V->A at 7: Impairs activation of histone gene transcription; when associated with A-10; A-11; A-15 and A-18</li><li>L->A at 10: Impairs activation of histone gene transcription; when associated with A-7; A-11; A-15 and A-18</li><li>V->A at 11: Impairs activation of histone gene transcription; when associated with A-7; A-10; A-15 and A-18</li><li>L->A at 15: Impairs activation of histone gene transcription; when associated with A-7; A-10; A-11 and A-18</li><li>E->A at 18: Impairs activation of histone gene transcription; when associated with A-7; A-10; A-11 and A-15</li><li>F->A at 27: Impairs activation of histone gene transcription; when associated with A-30</li><li>E->A at 30: Impairs activation of histone gene transcription; when associated with A-27</li><li>LFD->AAA at 331-333: Impairs activation of histone gene transcription. Impairs interaction with BZW1, RUVBL1, RUVBL2 and TRRAP</li><li>S->A at 775: Impairs activation of histone gene transcription; when associated with A-779; A-1100; A-1270 and A-1350</li><li>S->A at 779: Impairs activation of histone gene transcription; when associated with A-775; A-1100; A-1270 and A-1350</li><li>S->A at 1100: Impairs activation of histone gene transcription; when associated with A-775; A-779; A-1270 and A-1350</li><li>T->A at 1270: Impairs activation of histone gene transcription; when associated with A-775; A-779; A-1100 and A-1350</li><li>T->A at 1350: Impairs activation of histone gene transcription; when associated with A-775; A-779; A-1100 and A-1270</li></ul>	<li>I->L at 295: in dbSNP:rs1131748</li><li>L->M at 399: in dbSNP:rs1051521</li><li>V->M at 447: in dbSNP:rs35504388</li><li>I->L at 483: in dbSNP:rs968207</li><li>L->F at 540: in dbSNP:rs4144901</li><li>V->I at 575: in dbSNP:rs2070661</li><li>V->A at 608: in dbSNP:rs35095430</li><li>V->I at 621: in dbSNP:rs1051522</li><li>E->Q at 967: in dbSNP:rs1131750</li><li>L->V at 973: in dbSNP:rs1131751</li><li>V->A at 987: in dbSNP:rs1051524</li><li>N->K at 999: in dbSNP:rs34052882</li><li>Q->R at 1191: in dbSNP:rs1051525</li>	transcription	GO:0006350					<li>Q5ZLT7</li><li>Q7L1Q6</li><li>Q03940</li><li>Q12464</li><li>Q2TBU9</li><li>Q5R7L4</li><li>Q9Y230</li><li>Q9Y265</li><li>Q9Y4A5</li>		<li>rs35504388</li><li>rs35095430</li><li>rs4144901</li><li>rs1131748</li><li>rs2070661</li><li>rs1131750</li><li>rs1051525</li><li>rs968207</li><li>rs1051524</li><li>rs34052882</li><li>rs1051521</li><li>rs1131751</li><li>rs1051522</li>	3
Q14242	6404	<ul><li>T->A at 44: No effect on L-selectin binding nor neutrophil rolling</li><li>YEYLDYD->FEFLDF at 46-52: No sulfation. Almost complete loss of P-selectin binding. No effect on E-selectin binding</li><li>YEYLDY->FEFLDF at 46-51: No sulfation. Almost complete loss of P-selectin binding. No effect on E-selectin binding</li><li>Y->F at 46: Binding L-selectin reduced by 20%, neutrophil recruitment reduced by 30%, and lymphocyte rolling reduced by 32%; when associated with F-48. Binding L-selectin reduced by 86%, neutrophil recruitment reduced by 75%, and lymphocyte rolling reduced by 69%; when associated with F-51. Binding L-selectin reduced by 89%, and neutrophil recruitment reduced by 90%; when associated with F-48 and F-51. Binding of L-selectin reduced by 91%; when associated with F-48; F-51 and A-57</li><li>Y->F at 48: Binding L-selectin reduced by 20%, neutrophil recruitment reduced by 30%, and lymphocyte rolling reduced by 32%; when associated with F-46. Binding L-lectin reduced by 31%, neutrophil recruitment reduced by 52%, and lymphocyte rolling reduced by 52%; when associated with F-51. Binding L-selectin reduced by 89%, and neutrophil recruitment reduced by 90%; when associated with F-46 and F-51. Binding of L-selectin reduced by 91%; when associated with F-46; F-51 and A-57</li><li>Y->F at 51: Binding L-selectin reduced by 86%, neutrophil recruitment reduced by 75% and, lymphocyte rolling reduced by 69%; when associated with F-46. Binding L-selectin reduced by 31%, neutrophil recruitment reduced by 52%, and lymphocyte rolling reduced by 52%; when associated with F-48; Binding L-selectin reduced by 89%, and neutrophil recruitment reduced by 90%; when associated with F-46 and F-48. Binding of L-selectin reduced by 91%; when associated with F-46; F-48 and A-57</li><li>T->A at 57: No E- nor P-selctin binding, and very little neutrophil rolling. Binding of L-selectin reduced by 91%; when associated with F-46; F-48 and F-51</li><li>C->A,S at 320: No dimer formation. No effect on P-selectin binding</li></ul>	<li>M->I at 62: in dbSNP:rs2228315</li><li>Missing  at 132-141: in short form; not an alternative splicing</li><li>P->S at 246: in dbSNP:rs8179142</li>			binding	GO:0005488			<li>Q41114</li><li>P16349</li><li>P02871</li><li>P07386</li><li>P42088</li><li>P02873</li><li>P02874</li><li>P02875</li><li>P84987</li><li>P16352</li><li>P16108</li><li>P16351</li><li>P33888</li><li>P83410</li><li>P83511</li><li>P38662</li>		<li>rs8179142</li><li>rs2228315</li>	3
Q14289	2185	<ul><li>P->A at 859: Loss of interaction with nephrocystin</li></ul>	<li>Q->E at 359: in dbSNP rsrs56175011</li><li>R->H at 698: in dbSNP rsrs35174236</li><li>L->P at 808: in dbSNP rsrs55747955</li><li>K->T at 838: in dbSNP:rs751019</li><li>E->K at 970: in dbSNP rsrs56263944</li>									<li>rs56175011</li><li>rs55747955</li><li>rs56263944</li><li>rs751019</li><li>rs35174236</li>	3
Q14315	2318	<ul><li>M->D at 2669: Abolishes dimerization</li></ul>	<li>R->Q at 1567: in dbSNP:rs2291569</li><li>G->D at 1580: in dbSNP:rs2643766</li><li>A->T at 1599: in dbSNP:rs2643767</li><li>K->R at 2135: in dbSNP:rs1063261</li><li>P->R at 2203: in dbSNP:rs1063262</li><li>S->N at 2626: in dbSNP:rs2639142</li><li>K->Q at 2637: in dbSNP:rs2291572</li>									<li>rs1063262</li><li>rs2643767</li><li>rs1063261</li><li>rs2291569</li><li>rs2639142</li><li>rs2643766</li><li>rs2291572</li>	3
Q14344	10672	<ul><li>C->S at 14: Fails to localize to plasma membranes and failed to activate Rho-dependent serum response factor-mediated transcription and actin stress fiber formation</li><li>C->S at 18: Fails to localize to plasma membranes and failed to activate Rho-dependent serum response factor-mediated transcription and actin stress fiber formation</li><li>T->A at 203: Abolishes phosphorylation by PKA; disrupts heterotrimer stability</li></ul>	<li>V->L at 221: in dbSNP:rs1062597</li>	<li>phosphorylation</li><li>transcription</li>	<li>GO:0016310</li><li>GO:0006350</li>	PKA	GO:0004691	<li>stress fiber</li><li>plasma membranes</li>	<li>GO:0001725</li><li>GO:0005886</li>	<li>P26183</li><li>P53455</li><li>P48465</li><li>Q9P4D1</li><li>Q06447</li><li>Q39596</li><li>Q39758</li><li>P26182</li><li>P80709</li><li>Q9UVX4</li><li>P78711</li><li>O17320</li><li>P17128</li><li>P45521</li><li>P45520</li><li>Q99023</li><li>Q9JM73</li><li>P35359</li><li>P17593</li><li>P10989</li><li>P17594</li><li>P91754</li><li>P11426</li><li>O81221</li><li>P53477</li><li>P53476</li><li>P56466</li><li>P60009</li><li>P53502</li><li>P53500</li><li>P11831</li><li>P14235</li><li>O00937</li><li>Q9UVF3</li><li>O51891</li><li>O74258</li><li>O67031</li><li>Q92192</li><li>Q92193</li><li>P53499</li><li>P53498</li><li>P51489</li><li>O13419</li><li>P0AG30</li><li>P0AG31</li><li>P0AG32</li><li>P0AG33</li><li>P53689</li><li>P30161</li><li>P20904</li><li>P81085</li><li>Q6TCF2</li><li>Q75D00</li><li>P51775</li><li>P10365</li><li>P60011</li><li>P44619</li><li>P60010</li><li>O16808</li><li>Q8SWN8</li><li>P52156</li><li>P02577</li><li>P52155</li><li>P52158</li><li>P52157</li><li>P57652</li><li>P52152</li><li>P68555</li><li>P52154</li><li>O83281</li><li>P52153</li><li>P15409</li><li>Q05214</li><li>Q8X119</li><li>O65316</li><li>O65315</li><li>O65314</li><li>P03304</li><li>P53491</li><li>P20350</li><li>P13363</li><li>Q11212</li><li>P50138</li><li>P23790</li><li>Q89A22</li><li>P45835</li><li>Q90718</li><li>Q2U7A3</li><li>Q03222</li><li>Q9UVZ8</li><li>P38527</li><li>P33561</li><li>Q24733</li><li>P90689</li><li>P24902</li><li>P66028</li><li>P66029</li><li>Q9ZLS9</li><li>P0A296</li><li>P0A295</li><li>P29403</li><li>Q9ZD24</li>		rs1062597	3
Q14376	2582	<ul><li>S->A at 132: Loss of activity</li><li>Y->F at 157: Loss of activity</li><li>C->Y at 307: No effect on activity towards UDP-galactose. Loss of activity towards UDP-N-acetylgalactosamine</li></ul>	<li>A->V at 25: in EDG, MIM: 230350</li><li>N->S at 34: in EDG; peripheral; nearly normal activity towards UDP-galactose, MIM: 230350</li><li>R->C at 40: in EDG, MIM: 230350</li><li>D->E at 69: in EDG, MIM: 230350</li><li>G->E at 90: in EDG; 800-fold decrease in UDP-galactose epimerization activity: in dbSNP rsrs28940882, MIM: 230350</li><li>V->M at 94: in EDG; generalized; 30-fold decrease in UDP-galactose epimerization activity; 2-fold decrease in affinity for UDP-galactose; 24% of normal activity with respect to UDP-N-acetylgalactosamine, MIM: 230350</li><li>D->G at 103: in EDG; 7-fold decrease in UDP-galactose epimerization activity; very mild decrease in activity towards UDP-N-acetylgalactosamine: in dbSNP rsrs28940883, MIM: 230350</li><li>E->K at 165: in EDG, MIM: 230350</li><li>R->W at 169: in EDG, MIM: 230350</li><li>A->V at 180: in dbSNP rsrs3204468, MIM: 230350</li><li>L->P at 183: in EDG; peripheral; 3-fold decrease in UDP-galactose epimerization activity, MIM: 230350</li><li>R->W at 239: in EDG, MIM: 230350</li><li>K->R at 257: in EDG; 7-fold decrease in UDP-galactose epimerization activity; does not affect affinity for UDP-galactose: in dbSNP rsrs28940884, MIM: 230350</li><li>G->D at 302: in EDG, MIM: 230350</li><li>L->M at 313: in EDG; 6-fold decrease in UDP-galactose epimerization activity; very mild decrease in activity towards UDP-N-acetylgalactosamine: in dbSNP rsrs3180383, MIM: 230350</li><li>G->E at 319: in EDG; nearly normal activity towards UDP-galactose; mild impairment under conditions of substrate limitation; may be a polymorphism: in dbSNP rsrs28940885, MIM: 230350</li><li>R->H at 335: in EDG; 2-fold decrease in UDP-galactose epimerization activity, MIM: 230350</li>								Epimerase-deficiency galactosemia (EDG) [MIM:230350]	<li>rs28940884</li><li>rs28940885</li><li>rs28940882</li><li>rs28940883</li><li>rs3204468</li><li>rs3180383</li>	3
Q14393	2621	<ul><li>R->E at 353: Strongly reduced affinity for AXL. Abolishes phosphorylation of AXL</li><li>K->E at 355: Strongly reduced affinity for AXL. Abolishes phosphorylation of AXL</li><li>F->A at 530: Decreases activation of AXL</li><li>L->A at 663: Reduces affinity for AXL 15-fold and decreases activation of AXL</li><li>Y->A at 703: Reduces affinity for AXL 3-fold</li></ul>	<li>F->L at 41</li><li>S->Y at 231</li><li>V->M at 390</li><li>G->R at 543</li><li>S->L at 623</li><li>E->K at 655</li><li>R->Q at 659</li>	phosphorylation	GO:0016310					P30530			3
Q14444	4076	<ul><li>R->A at 612: Major reduction in MYC and CCND2 RNA-binding; when associated with A-633 and A-690</li><li>R->A at 633: Major reduction in MYC and CCND2 RNA-binding; when associated with A-612 and A-690</li><li>R->A at 690: Major reduction in MYC and CCND2 RNA-binding; when associated with A-612 and A-633</li></ul>	<li>A->D at 263: in dbSNP:rs1132973</li><li>Q->H at 588: in dbSNP:rs12282627</li><li>R->H at 616: in dbSNP:rs11552285</li>			RNA-binding	GO:0003723			<li>P01110</li><li>Q9MZT9</li><li>P30279</li><li>Q9MZT7</li><li>Q9MZT8</li><li>P10395</li><li>Q9MZT6</li><li>Q28566</li><li>P68272</li><li>P68271</li><li>P12523</li><li>P01109</li><li>P22555</li><li>P01106</li><li>P49032</li><li>P49033</li><li>Q28350</li><li>Q2HJ27</li><li>Q9MZU0</li><li>Q17103</li><li>P06646</li><li>Q29031</li><li>P49706</li><li>P0C0N8</li><li>P49709</li><li>P06295</li><li>P23583</li><li>P21438</li><li>P0C0N9</li>		<li>rs1132973</li><li>rs12282627</li><li>rs11552285</li>	3
Q14493	7884	<ul><li>Missing at 230-270: Decrease in 3' end processing efficiency</li></ul>											1
Q14512	9982	<ul><li>C->A at 214: Strongly reduces interaction with FGF2</li></ul>								<li>P09038</li><li>P20003</li><li>P48798</li><li>P48799</li><li>P48800</li><li>P03969</li><li>Q60487</li>			1
Q14524	6331	<ul><li>Q->K at 1476: Induces accelerated recovery from channel fast inactivation</li><li>P->A at 1974: Strongly reduces interaction with NEDD4, NEDD4L or WWP2</li><li>P->A at 1975: Strongly reduces interaction with NEDD4, NEDD4L or WWP2</li><li>S->A at 1976: Strongly reduces interaction with NEDD4, NEDD4L or WWP2</li><li>Y->A at 1977: Strongly reduces interaction with NEDD4, NEDD4L or WWP2</li><li>D->A at 1978: No effect on interaction with NEDD4, NEDD4L or WWP2</li><li>S->A at 1979: No effect on interaction with NEDD4, NEDD4L or WWP2</li><li>V->A at 1980: No effect on interaction with NEDD4, NEDD4L or WWP2</li><li>V->D,R at 1980: Strongly reduces interaction with NEDD4L</li></ul>	<li>G->V at 9: in LQT3, MIM: 603830</li><li>R->H at 27: in BRS1, MIM: 601144</li><li>R->C at 34: in dbSNP:rs6791924, MIM: 601144</li><li>R->Q at 43: in LQT3; does not affect baseline kinetics of sodium currents; causes an unusual hyperpolarizing shift of the activation kinetics after lidocaine treatment, MIM: 601144</li><li>V->I at 95: in BRS1, MIM: 601144</li><li>K->E at 126: in BRS1, MIM: 601144</li><li>M->I at 138: found in patients with atrial fibrillation, MIM: 601144</li><li>E->K at 161: in BRS1 and PFHB1A, MIM: 601144</li><li>T->I at 187: in BRS1; loss of function, MIM: 601144</li><li>L->P at 212: in PFHB1A, MIM: 601144</li><li>S->L at 216: in LQT3; also found in patients with atrial fibrillation: in dbSNP rsrs41276525, MIM: 601144</li><li>T->I at 220: in SSS1; dbSNP:rs45620037, MIM: 608567</li><li>R->Q at 225: in LQT3, MIM: 603830</li><li>R->W at 225: in PFHB1A, MIM: 603830</li><li>A->V at 226: in BRS1, MIM: 601144</li><li>I->V at 230: in BRS1, MIM: 601144</li><li>V->I at 232: associated with F-1308 in a case of lidocaine-induced Brugada syndrome: in dbSNP rsrs45471994, MIM: 601144</li><li>R->H at 282: in BRS1, MIM: 601144</li><li>V->M at 294: in BRS1, MIM: 601144</li><li>G->S at 298: in PFHB1A; also in irritable bowel syndrome; results in reduction of whole cell current density and a delay in channel activation kinetics without a change in single-channel conductance, MIM: 601144</li><li>G->S at 319: in BRS1, MIM: 601144</li><li>L->R at 325: in BRS1, MIM: 601144</li><li>P->L at 336: in BRS1; disease phenotype in the presence of V-1660 on the other allele, MIM: 601144</li><li>G->V at 351: in BRS1; 7-fold current reduction, MIM: 601144</li><li>T->I at 353: in BRS1, MIM: 601144</li><li>D->N at 356: in BRS1; loss of function, MIM: 601144</li><li>R->C at 367: in BRS1; express no current; dbSNP:rs28937318, MIM: 601144</li><li>R->H at 367: in BRS1; express no current: in dbSNP rsrs28937318, MIM: 601144</li><li>M->K at 369: in BRS1, MIM: 601144</li><li>R->H at 376: found in patients with atrial fibrillation, MIM: 601144</li><li>Missing  at 393: in BRS1, MIM: 601144</li><li>N->K at 406: in LQT3, MIM: 601144</li><li>N->S at 406: in BRS1, MIM: 601144</li><li>E->K at 428: found in patients with atrial fibrillation, MIM: 601144</li><li>H->D at 445: found in patients with atrial fibrillation, MIM: 601144</li><li>L->V at 461: found in patients with atrial fibrillation; dbSNP:rs41313697, MIM: 601144</li><li>N->K at 470: found in patients with atrial fibrillation, MIM: 601144</li><li>R->W at 481: found in patients with atrial fibrillation, MIM: 601144</li><li>T->I at 512: in PFHB1A; voltage-dependent activation and inactivation of the Ile-512 channel is shifted negatively by 8 to 9 mV and had enhanced slow activation and slower recovery from inactivation commpared to the wild-type channel; the double mutant Arg-558/Ile-512 channel shows that Arg-558 eliminates the negative shift induced by Ile-512 but only partially restores the kinetic abnormalities, MIM: 601144</li><li>G->C at 514: in BRS1 and PFHB1A, MIM: 601144</li><li>S->Y at 524: found in patients with atrial fibrillation; dbSNP:rs41313691, MIM: 601144</li><li>F->C at 532: in SIDS, MIM: 601144</li><li>G->R at 552: in dbSNP:rs3918389, MIM: 601144</li><li>H->R at 558: activation and inactivation of wild-type and Arg-558 channels are similar; the double mutant Arg-558/Ile-512 channel shows that Arg-558 eliminates the negative shift induced by Ile-512 but only partially restores the kinetic abnormalities; dbSNP:rs1805124, MIM: 601144</li><li>L->Q at 567: in BRS1, MIM: 601144</li><li>A->D at 572: in LQT3; also found in patients with atrial fibrillation: in dbSNP rsrs36210423, MIM: 601144</li><li>Missing  at 586-587: in LQT3, MIM: 601144</li><li>G->E at 615: in LQT3; drug-induced LQT syndrome; dbSNP:rs12720452, MIM: 603830</li><li>L->F at 618: in drug-induced LQT syndrome; also found in patients with atrial fibrillation; dbSNP:rs45488304, MIM: 603830</li><li>L->F at 619: in LQT3, MIM: 603830</li><li>G->R at 639: in LQT3, MIM: 603830</li><li>E->K at 655: found in patients with atrial fibrillation, MIM: 603830</li><li>R->H at 680: in LQT3, MIM: 603830</li><li>H->P at 681: in BRS1, MIM: 601144</li><li>A->E at 735: in BRS1, MIM: 601144</li><li>A->V at 735: in BRS1; expresses currents with steady state activation voltage shifted to more positive potentials and exhibit reduced sodium channel current at the end of phase I of the action potential, MIM: 601144</li><li>G->R at 752: in BRS1 and PFHB1A, MIM: 601144</li><li>R->Q at 814: in BRS1, MIM: 601144</li><li>F->L at 851: in BRS1, MIM: 601144</li><li>R->C at 878: in BRS1, MIM: 601144</li><li>F->I at 892: in BRS1, MIM: 601144</li><li>C->S at 896: in BRS1, MIM: 601144</li><li>S->L at 910: in BRS1, MIM: 601144</li><li>S->N at 941: in LQT3; also in SIDS, MIM: 603830</li><li>R->C at 965: in BRS1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation, MIM: 601144</li><li>A->S at 997: in LQT3; also found in patients with atrial fibrillation; sodium current characterized by slower decay and a 2- to 3-fold increase in late sodium current, MIM: 603830</li><li>R->H at 1023: in BRS1, MIM: 603830</li><li>R->Q at 1027, MIM: 603830</li><li>D->N at 1041: in dbSNP:rs45491996, MIM: 603830</li><li>E->K at 1053: in BRS1; also found in patients with atrial fibrillation; abolishes binding to ANK3 and also prevents accumulation of SCN5A at cell surface sites in ventricular cardiomyocytes, MIM: 601144</li><li>G->S at 1084: in SIDS; may be a rare polymorphism, MIM: 601144</li><li>P->L at 1090: in dbSNP:rs1805125, MIM: 601144</li><li>S->Y at 1103: may confere susceptibility to acquired arrhythmia; dbSNP:rs7626962, MIM: 601144</li><li>D->N at 1114: in LQT3, MIM: 603830</li><li>T->I at 1131: found in patients with atrial fibrillation, MIM: 603830</li><li>A->V at 1180: in dbSNP:rs41310765, MIM: 603830</li><li>R->Q at 1193: in BRS1 and LQT3; also found in patients with atrial fibrillation; accelerates the inactivation of the sodium channel current and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs41261344, MIM: 601144</li><li>E->K at 1225: in BRS1, MIM: 601144</li><li>R->W at 1232: in BRS1 and PFHB1A, MIM: 601144</li><li>K->N at 1236: in BRS1, MIM: 601144</li><li>E->Q at 1240: in BRS1, MIM: 601144</li><li>F->L at 1250: in LQT3; drug-induced LQT syndrome; dbSNP:rs45589741, MIM: 603830</li><li>G->S at 1262: in BRS1, MIM: 601144</li><li>D->N at 1275: in CMD1E, BRS1 and PFHB1A; also in familial atrial standstill in association with polymorphisms in the regulatory region of GJA5, MIM: 601154</li><li>F->S at 1293: in BRS1; dbSNP:rs41311127, MIM: 601144</li><li>E->K at 1295: in LQT3; causes significant positive shifts in the half-maximal voltage of steady-state inactivation and activation, MIM: 601144</li><li>P->L at 1298: in SSS1: in dbSNP rsrs28937319, MIM: 608567</li><li>T->M at 1304: in LQT3, MIM: 603830</li><li>L->F at 1308: associated with I-232 in a case of lidocaine-induced Brugada syndrome; dbSNP:rs41313031, MIM: 603830</li><li>G->V at 1319: in BRS1, MIM: 601144</li><li>N->S at 1325: in LQT3: in dbSNP rsrs28937317, MIM: 603830</li><li>A->P at 1330: in LQT3, MIM: 603830</li><li>A->T at 1330: in LQT3, MIM: 603830</li><li>P->L at 1332: in LQT3, MIM: 603830</li><li>S->Y at 1333: in LQT3 and SIDS, MIM: 603830</li><li>F->S at 1344: in BRS1, MIM: 601144</li><li>S->I at 1382: in BRS1, MIM: 601144</li><li>V->L at 1405: in BRS1, MIM: 601144</li><li>G->R at 1406: in BRS1: in dbSNP rsrs28936971, MIM: 601144</li><li>G->R at 1408: in SSS1 and BRS1; also in cardiac conduction defect: in dbSNP rsrs28936971, MIM: 608567</li><li>R->G at 1432: in BRS1, MIM: 608567</li><li>P->L at 1438: in BRS1, MIM: 608567</li><li>F->C at 1473: in LQT3, MIM: 608567</li><li>Missing  at 1479: in BRS1, MIM: 608567</li><li>F->L at 1486: in LQT3, MIM: 608567</li><li>Y->N at 1494: in BRS1, MIM: 608567</li><li>K->N at 1500, MIM: 608567</li><li>Missing  at 1500: in BRS1, MIM: 608567</li><li>L->V at 1501: in LQT3, MIM: 603830</li><li>G->S at 1502: in BRS1, MIM: 601144</li><li>Missing  at 1505-1507: in LQT3, MIM: 601144</li><li>Missing  at 1507-1509: in LQT3, MIM: 601144</li><li>R->W at 1512: in BRS1; significantly affects cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke, MIM: 601144</li><li>K->R at 1527: in BRS1; asymptomatic patient; associated with P-1569, MIM: 601144</li><li>A->P at 1569: in BRS1; asymptomatic patient; associated with R-1527, MIM: 601144</li><li>D->N at 1595: in PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3, MIM: 601144</li><li>S->W at 1609: in LQT3, MIM: 603830</li><li>Missing  at 1617: in LQT3 and BRS1, MIM: 603830</li><li>T->K at 1620: in LQT3 and PFHB1A, MIM: 603830</li><li>T->M at 1620: in BRS1; arrhythmogenicity revealed only at temperatures approaching the physiologic range, MIM: 601144</li><li>R->L at 1623: in LQT3, MIM: 603830</li><li>R->Q at 1623: in LQT3, MIM: 603830</li><li>R->P at 1626: in LQT3, MIM: 603830</li><li>R->C at 1644: in LQT3 and BRS1, MIM: 603830</li><li>R->H at 1644: in LQT3; dbSNP:rs28937316, MIM: 603830</li><li>T->M at 1645: in LQT3, MIM: 603830</li><li>A->V at 1649: in BRS1, MIM: 603830</li><li>M->R at 1652: in LQT3, MIM: 603830</li><li>I->V at 1660: in BRS1; disease phenotype in the presence of L-336 on the other allele, MIM: 603830</li><li>F->S at 1705: in SIDS; causes a hyperpolarizing shift of steady-state inactivation and delayed recovery from inactivation, MIM: 603830</li><li>S->L at 1710: in IVF and BRS1, MIM: 603829</li><li>D->G at 1714: in BRS1; strong decrease of current density; does not affect ion selectivity properties, MIM: 601144</li><li>G->R at 1740: in BRS1, MIM: 601144</li><li>G->E at 1743: in BRS1, MIM: 601144</li><li>G->R at 1743: in BRS1; yields nearly undetectable currents in transfected cells, MIM: 601144</li><li>V->M at 1763: in LQT3, MIM: 601144</li><li>M->L at 1766: in LQT3, MIM: 601144</li><li>I->V at 1768: in LQT3; increases the rate of recovery from inactivation and the channel availability, observed as a positive shift of the steady-state inactivation curve, MIM: 601144</li><li>V->M at 1777: in LQT3, MIM: 601144</li><li>E->K at 1784: in LQT3 and BRS1, MIM: 603830</li><li>S->N at 1787: in LQT3, MIM: 603830</li><li>D->G at 1790: in LQT3, MIM: 603830</li><li>Y->C at 1795: in LQT3; also in a family associating LQT syndrome and atrial fibrillation; slows the onset of activation, but does not cause a marked negative shift in the voltage dependence of inactivation or affect the kinetics of the recovery from inactivation; increases the expression of sustained Na, MIM: 603830</li><li>Y->H at 1795: in BRS1; accelerates the onset of activation and causes a marked negative shift in the voltage dependence of inactivation; does not affect the kinetics of the recovery from inactivation; increases the expression of sustained Na, MIM: 601144</li><li>Y->YD at 1795: in LQT3 and BRS1; 7.3-mV negative shift of the steady-state inactivation curve and 8.1-mV positive shift of the steady-state activation curve; may reduced sodium current during the upstroke of the action potential, MIM: 601144</li><li>D->N at 1819: in LQT3; digenic; associated with Gly-100 mutation on the KCNH2 gene, MIM: 603830</li><li>L->P at 1825: in LQT3; drug-induced LQT syndrome, MIM: 603830</li><li>R->C at 1826: found in patients with atrial fibrillation, MIM: 603830</li><li>R->H at 1826: in LQT3; sodium current characterized by slower decay and a 2- to 3-fold increase in late sodium current, MIM: 603830</li><li>D->G at 1839: in LQT3, MIM: 603830</li><li>C->S at 1850: in BRS1; decreased I, MIM: 603830</li><li>M->T at 1875: in atrial fibrillation; pronounced depolarized shift of the voltage dependence of steady-state inactivation; no persistent sodium current, MIM: 603830</li><li>S->L at 1904: in LQT3; promotes late sodium currents by increasing the propensity of the channel to reopen during prolonged depolarization, MIM: 603830</li><li>A->T at 1924: in BRS1; significantly affect cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke, MIM: 601144</li><li>G->S at 1935: in BRS1, MIM: 601144</li><li>V->L at 1951: in BRS1 and LQT3; also found in patients with atrial fibrillation; dbSNP:rs41315493, MIM: 601144</li><li>V->M at 1951: found in patients with atrial fibrillation, MIM: 601144</li><li>I->S at 1968: in BRS1, MIM: 601144</li><li>F->L at 2004: in LQT3 and BRS1; also found in patients with atrial fibrillation; results in channels with decreased peak and persistent current amplitudes; increased closed-state and slow inactivation; decelerated recovery from inactivation; dbSNP:rs41311117, MIM: 601144</li><li>P->A at 2006: in LQT3: in dbSNP rsrs45489199, MIM: 601144</li>			binding	GO:0005488	cell surface	GO:0009928,GO:0009986	<li>P36382</li><li>Q14524</li><li>Q6G7E9</li><li>P18860</li><li>Q9PT84</li><li>P60086</li><li>P60087</li><li>Q6GER3</li><li>P60088</li><li>P33725</li><li>O00308</li><li>Q9M099</li><li>O08703</li><li>Q8NVE3</li><li>Q8WNY2</li><li>Q5RBF2</li><li>P46934</li><li>Q12955</li><li>Q9TSZ3</li><li>Q96PU5</li><li>O90760</li><li>P87384</li><li>P35179</li><li>Q4JIM5</li><li>Q12809</li><li>Q9TUI4</li>	<li>Cardiomyopathy dilated type 1E (CMD1E) [MIM:601154]</li><li>Long QT syndrome type 3 (LQT3) [MIM:603830]</li><li>Idiopathic ventricular fibrillation (IVF) [MIM:603829]</li><li>Sick sinus syndrome type 1 (SSS1) [MIM:608567]</li><li>Brugada syndrome (BRS1) [MIM:601144]</li>	<li>rs45489199</li><li>rs41313697</li><li>rs1805125</li><li>rs1805124</li><li>rs36210423</li><li>rs41315493</li><li>rs41313691</li><li>rs41261344</li><li>rs7626962</li><li>rs28936971</li><li>rs41311127</li><li>rs41310765</li><li>rs45491996</li><li>rs45471994</li><li>rs45488304</li><li>rs45620037</li><li>rs45589741</li><li>rs28937318</li><li>rs3918389</li><li>rs28937319</li><li>rs41313031</li><li>rs28937316</li><li>rs28937317</li><li>rs12720452</li><li>rs41276525</li><li>rs41311117</li><li>rs6791924</li>	3
Q14526	3090	<ul><li>K->R at 333: Abolishes sumoylation; impairs transcriptional repression activity</li><li>E->A at 335: Impairs transcriptional repression activity</li><li>P->A at 336: Impairs K-333 acetylation; no effect on sumoylation</li></ul>		sumoylation	GO:0016925								1
Q14562	1659	<ul><li>K->E at 594: In GET; inhibition of pre-mRNA splicing and nuclear export of unspliced RNA</li><li>S->L at 717: In LAT; inhibition of pre-mRNA splicing and nuclear export of unspliced RNA</li></ul>	<li>A->G at 1069: in dbSNP:rs34285079</li>	nuclear export	GO:0051168					<li>O43561</li><li>P41929</li>		rs34285079	3
Q14565	11144	<ul><li>E->A,Q at 258: Decreases octamer stability</li></ul>	<li>M->V at 200: in dbSNP:rs2227914</li>									rs2227914	3
Q14596	4077	<ul><li>K->A at 12: No effect on interaction with SQSTM1</li><li>D->R at 50: Loss of interaction with SQSTM1</li></ul>	<li>R->H at 923: in dbSNP:rs8482</li>							<li>Q5RBA5</li><li>Q13501</li>		rs8482	3
Q14644	22821	<ul><li>K->Q at 599: No binding to IP4 and loss of plasma membrane localization</li><li>K->Q at 600: No binding to IP4 and loss of plasma membrane localization</li><li>R->Q at 601: No binding to IP4 and loss of plasma membrane localization</li></ul>		localization	GO:0051179	binding	GO:0005488	plasma membrane	GO:0005886				1
Q14653	3661	<ul><li>KR->NG at 77-78: Abolishes nuclear localization</li><li>RK->LQ at 86-87: No effect on subcellular localization</li><li>IL->MM at 139-140: Abolishes nuclear export</li><li>SS->AA at 385-386: Complete loss of viral infection induced phosphorylation</li><li>S->A,D,E at 385: Complete loss of viral infection induced phosphorylation</li><li>S->A,D,E at 386: Complete loss of viral infection induced phosphorylation</li><li>SNSHPLSLTS->ANA at 396-405: Complete loss of viral infection induced phosphorylation</li><li>SNSHPLSLTS->DND at 396-405: Acts as a constitutively activated IRF3</li><li>SNS->ANA at 396-398: Complete loss of viral infection induced phosphorylation</li><li>SLTS->ALAA at 402-405: Complete loss of viral infection induced phosphorylation</li></ul>	<li>R->Q at 96: in dbSNP:rs968457</li><li>Y->F at 107: in dbSNP:rs34745118</li><li>E->K at 377: in dbSNP:rs1049486</li><li>S->T at 427: in dbSNP:rs7251</li>	<li>phosphorylation</li><li>nuclear export</li><li>localization</li>	<li>GO:0016310</li><li>GO:0051168</li><li>GO:0051179</li>					<li>Q4JF28</li><li>Q764M6</li><li>Q90643</li><li>Q14653</li>		<li>rs7251</li><li>rs1049486</li><li>rs968457</li><li>rs34745118</li>	3
Q14671	9698	<ul><li>NY->SN at 1043-1044: Changes the specificity for RNA; when associated with E-1047</li><li>Q->E at 1047: Changes the specificity for RNA; when associated with 1043-SN-1044</li></ul>											1
Q14674	9700	<ul><li>S->A at 1126: Abolishes phosphorylation at this site, as well as the negative regulation due to phosphorylation</li><li>EIMR->RIME at 1483-1486: Abolishes autocleavage; when associated with R-1178; E-1181; R-1207 and E-1210. Does not affect the protease function</li><li>R->A at 1486: Abolishes autocleavage; when associated with A-1181 and A-1210</li><li>EILR->RILE at 1503-1506: Does not affect autocleavage. Does not affect the protease function</li><li>R->A at 1506: Abolishes autocleavage; when associated with A-1161 and A-1210</li><li>ELLR->RLLE at 1532-1535: Strongly reduces autocleavage at this site, but enhances autocleavage at site 1. Does not affect the protease function</li><li>R->A at 1535: Abolishes autocleavage; when associated with A-1161 and A-1281</li><li>C->A at 2029: Abolishes protease activity</li></ul>		phosphorylation	GO:0016310					<li>P19028</li><li>P24107</li><li>Q9QBZ5</li><li>Q9QBZ1</li><li>P15833</li><li>Q79666</li><li>P18042</li><li>P03362</li><li>P04024</li><li>P03363</li><li>Q8AII1</li><li>P04023</li><li>P10978</li><li>O93215</li><li>P26810</li><li>Q1A249</li><li>P03356</li><li>P03355</li><li>O41798</li><li>P20892</li><li>Q9Y6I0</li><li>P10210</li><li>Q9QBY3</li><li>P03353</li><li>P16901</li><li>Q74120</li><li>Q09SZ9</li><li>Q89928</li><li>Q73368</li><li>P84454</li><li>Q9WC63</li><li>P20825</li><li>Q9IDV9</li><li>P0C211</li><li>P51518</li><li>P0C210</li><li>Q4U0X6</li><li>P12451</li><li>P07570</li><li>P28936</li><li>O89940</li><li>P24740</li><li>P26809</li><li>P26808</li><li>Q0R5R3</li><li>Q0R5R2</li><li>P18802</li><li>P19561</li><li>P10394</li><li>P16423</li><li>P63119</li><li>P19560</li><li>Q75002</li><li>P04589</li><li>P04587</li><li>P04588</li><li>Q9QSR3</li><li>O91080</li><li>P16046</li><li>P17757</li><li>P12497</li><li>P12499</li><li>P12498</li><li>P03311</li><li>P20875</li><li>P20876</li><li>P10273</li><li>Q9WC54</li><li>P10272</li><li>P10271</li><li>P10270</li><li>P19199</li><li>P05962</li><li>P18096</li><li>P10265</li><li>P04584</li><li>P11227</li><li>P04585</li><li>Q76634</li><li>Q8I7P9</li><li>Q9Q720</li><li>P14078</li><li>P31822</li><li>P11365</li><li>P35963</li><li>P14074</li><li>P05959</li><li>P63131</li><li>P04323</li><li>P10274</li><li>P21407</li><li>O89290</li><li>P35956</li><li>P05960</li><li>P05961</li><li>Q1A267</li><li>P63122</li><li>P63123</li><li>P63124</li><li>P63125</li><li>P63120</li><li>P63121</li><li>P03366</li><li>P03367</li><li>P03369</li><li>P63127</li><li>P63128</li><li>P63129</li><li>P03370</li><li>Q77373</li><li>P27502</li><li>P21414</li>			1
Q14676	9656	<ul><li>R->A at 58: Abrogates binding to the MRE11 complex and to CHEK2</li><li>S->A at 72: Abrogates binding to CHEK2</li><li>N->A at 96: Abrogates binding to CHEK2; when associated with A-97 and A-98</li><li>G->A at 97: Abrogates binding to CHEK2; when associated with A-96 and A-98</li><li>T->A at 98: Abrogates binding to CHEK2; when associated with A-96 and A-97</li></ul>	<li>R->C at 179: in dbSNP:rs28986464</li><li>E->K at 251: in dbSNP:rs2517560</li><li>R->K at 268: in dbSNP:rs9262152</li><li>E->K at 371: in dbSNP:rs2075015</li><li>P->L at 386: in dbSNP:rs28986465</li><li>I->M at 536: in dbSNP:rs58344693</li><li>S->A at 586: in dbSNP:rs2844707</li><li>R->S at 917: in dbSNP:rs28986467</li><li>P->A at 1100: in dbSNP:rs28994869</li><li>S->F at 1112: in dbSNP:rs28987085</li><li>S->P at 1180: in dbSNP:rs9461623</li><li>E->D at 1509: in dbSNP:rs3132589</li><li>S->P at 1540: in dbSNP:rs3130645</li><li>Q->R at 1545: in dbSNP:rs17292678</li><li>P->R at 1745: in dbSNP:rs28994871</li><li>V->E at 1791: in dbSNP:rs28994873</li><li>D->E at 1855: in dbSNP:rs28994874</li><li>R->Q at 1883: in dbSNP:rs28994875</li><li>R->Q at 1904: in dbSNP:rs28994876</li>			binding	GO:0005488			<li>P49959</li><li>Q9IAM7</li><li>Q9UVN9</li><li>P32829</li><li>O96017</li><li>Q9XGM2</li>		<li>rs28987085</li><li>rs2075015</li><li>rs3130645</li><li>rs9262152</li><li>rs58344693</li><li>rs3132589</li><li>rs28994873</li><li>rs9461623</li><li>rs28994871</li><li>rs28986465</li><li>rs28986464</li><li>rs28986467</li><li>rs2844707</li><li>rs28994869</li><li>rs2517560</li><li>rs28994876</li><li>rs17292678</li><li>rs28994875</li><li>rs28994874</li>	3
Q14677	9685	<ul><li>R->L at 29: Reduces lipid binding. Abolishes lipid binding; when associated with G-34</li><li>D->G at 34: Abolishes lipid binding; when associated with L-29</li><li>D->R at 349: Decreases AP-1 and AP-2 binding</li><li>D->R at 371: Slightly decreases AP-1 binding</li><li>D->R at 422: Strongly decreases clathrin binding</li><li>LFDL->AFAA at 423-426: Strongly reduces clathrin binding</li></ul>				<li>binding</li><li>clathrin binding</li><li>lipid binding</li>	<li>GO:0005488</li><li>GO:0030276</li><li>GO:0008289</li>			<li>P05549</li><li>P34056</li><li>Q9N0N3</li><li>P58197</li><li>P21525</li>			1
Q14680	9833	<ul><li>D->A at 150: Abolishes enzymatic activity</li><li>T->A at 345: No effect on interaction with PPP1R8</li><li>T->A at 387: No effect on interaction with PPP1R8</li><li>T->A at 409: No effect on interaction with PPP1R8</li><li>T->A at 415: No effect on interaction with PPP1R8</li><li>T->A at 428: No effect on interaction with PPP1R8</li><li>T->A at 446: Inhibits interaction with PPP1R8</li><li>T->A at 460: Inhibits interaction with PPP1R8</li><li>T->A at 466: Inhibits interaction with PPP1R8</li><li>T->A at 478: Strongly inhibits interaction with PPP1R8. Enhances enzymatic activity</li><li>T->A at 518: No effect on interaction with PPP1R8</li></ul>	<li>T->M at 56: in dbSNP rsrs35233455</li><li>K->R at 219: in dbSNP:rs35142210</li><li>R->K at 333: in dbSNP:rs34655121</li><li>T->I at 348: in dbSNP rsrs55845414</li><li>T->M at 460: in an ovarian mucinous carcinoma sample; somatic mutation</li><ul><li>T->A at 460: Inhibits interaction with PPP1R8</li></ul>							<li>Q12972</li><li>Q28147</li>		<li>rs35233455</li><li>rs55845414</li><li>rs35142210</li><li>rs34655121</li>	4
Q14683	8243	<ul><li>S->A at 957: Reduces phosphorylation and the S-phase checkpoint activation. Abolishes S-phase activation; when associated with A-966</li><li>S->A at 966: Reduces phosphorylation and the S-phase checkpoint activation. Increases sensitivity to DNA methylation. Abolishes S-phase activation; when associated with A-957</li></ul>	<li>T->P at 28: in dbSNP:rs34530151</li><li>E->A at 493: in CDLS2, MIM: 300590</li><li>Missing  at 832: in CDLS2, MIM: 300590</li>	<li>DNA methylation</li><li>phosphorylation</li><li>S-phase</li>	<li>GO:0006306</li><li>GO:0016310</li><li>GO:0051320</li>						Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	rs34530151	3
Q14686	23054	<ul><li>TSPLLVNLLQSD->E at 883-894: Reduced binding to THRB, RXRA, ESR2 and ESR1</li><li>TSPLLVNLLQSD->N at 883-894: Reduced binding to THRB, RXRA, ESR2 and ESR1</li><li>TSPLLVNLLQSD->V at 883-894: Reduced binding to THRB, RXRA, ESR2 and ESR1</li><li>TS->SY at 883-884: Strong increase in binding to THRB, RXRA and ESR2, but dramatic decrease in binding to ESR1</li><li>SPLLVNLLQSD->NP at 884-894: Reduced binding to THRB, RXRA, ESR2 and ESR1</li></ul>	<li>P->L at 512: in dbSNP:rs6060031</li><li>N->S at 955: in dbSNP:rs17092079</li><li>P->S at 1060: in a breast cancer sample; somatic mutation</li><li>S->R at 1191: in a breast cancer sample; somatic mutation</li><li>I->V at 1995: in dbSNP:rs6060022</li>			binding	GO:0005488			<li>Q9XSW2</li><li>Q91279</li><li>Q91250</li><li>Q29040</li><li>P38111</li><li>Q9YHT3</li><li>P50242</li><li>P50241</li><li>P50240</li><li>Q9PVE2</li><li>P06212</li><li>Q95171</li><li>Q53AD2</li><li>P49885</li><li>P49886</li><li>O13012</li><li>Q28571</li><li>Q9W6M2</li><li>P68306</li><li>P68305</li><li>O42132</li><li>Q9TV98</li><li>Q9QZJ5</li><li>Q9IAK1</li><li>P49884</li><li>P19793</li><li>Q9PTU5</li><li>P10828</li><li>Q91424</li><li>O93511</li><li>P03372</li><li>P16058</li><li>Q92731</li><li>Q9PVZ9</li><li>Q9YH33</li><li>Q9YH32</li><li>P37243</li><li>P57753</li><li>Q02965</li><li>P57781</li><li>Q9TU15</li><li>P57782</li><li>Q9XSB5</li><li>Q9TTE5</li><li>Q9YHZ7</li>		<li>rs17092079</li><li>rs6060022</li><li>rs6060031</li>	3
Q14694	9100	<ul><li>C->A at 424: Abolishes de-ubiquitinating activity</li></ul>	<li>M->V at 200: in dbSNP:rs1862792</li><li>S->P at 203: in dbSNP:rs2326391</li><li>V->L at 204: in dbSNP:rs1812061</li>									<li>rs1862792</li><li>rs1812061</li><li>rs2326391</li>	3
Q14697	23193	<ul><li>D->N at 542: Loss of activity</li></ul>	<li>R->W at 154: in dbSNP:rs2276296</li><li>R->Q at 173: in dbSNP:rs2276295</li><li>R->C at 309: in dbSNP:rs1063445</li>									<li>rs1063445</li><li>rs2276295</li><li>rs2276296</li>	3
Q14699	23180	<ul><li>G->A at 2: Loss of association with membranes. Same effect; when associated with S-3</li><li>C->S at 3: Partially affects association with membranes. Loss of association with membranes; when associated with A-2</li></ul>	<li>E->K at 248: in dbSNP:rs34276015</li>					membranes	GO:0016020			rs34276015	3
Q14767	4053	<ul><li>DL->EIFP at 1449-1450: Gain-of-function. Forms a complex with TGFB1</li></ul>								<li>P09533</li><li>P54831</li><li>P18341</li><li>O19011</li><li>P50414</li><li>P09531</li><li>P07200</li><li>Q9Z1Y6</li><li>Q9PTQ2</li><li>O93449</li><li>P01137</li><li>Q38HS2</li>			1
Q14790	841	<ul><li>D->A at 73: Abolishes binding to FLASH. Induces NF-kappa-B activation</li></ul>	<li>S->T at 219: in dbSNP:rs35976359</li><li>R->W at 248: in CASP8D; dbSNP:rs17860424, MIM: 607271</li><li>D->H at 285: associated with protection against breast cancer; also associated with a lower risk of cutaneous melanoma; dbSNP:rs1045485, MIM: 607271</li>			binding	GO:0005488			Q9UKL3	Caspase-8 deficiency (CASP8D) [MIM:607271]	<li>rs1045485</li><li>rs17860424</li><li>rs35976359</li>	3
Q14814	4209	<ul><li>S->A at 180: Abolishes MAPK7- and EGF-mediated transcriptional activation</li><li>T->A at 286: Same transcriptional activity as for isoforms with beta domain</li><li>E->Q at 287: Abolishes transcriptional activity; when associated with N-288 and N-291</li><li>D->A at 288: Abolishes cleavage by caspase 7</li><li>D->N at 288: Abolishes transcriptional activity; when associated with Q-287 and N-291</li><li>H->A at 289: Same transcriptional activity as for isoforms with beta domain</li><li>D->N at 291: Abolishes transcriptional activity; when associated with Q-287 and N-288</li><li>S->A at 437: No effect on MAPK7- or EGF-mediated transcriptional activity</li><li>I->A at 438: Abolishes K-439 sumoylation</li><li>K->R at 439: Abolishes sumoylation and acetylation</li><li>S->A at 444: Abolishes K-439 sumoylation. Reduced neurotoxin-induced apoptosis of neuronal cells. More resistant to degradation</li><li>S->E at 444: No effect on K-439 sumoylation</li></ul>	<li>P->S at 434: in dbSNP:rs2274315</li>	<li>sumoylation</li><li>apoptosis</li>	<li>GO:0016925</li><li>GO:0006915</li>					<li>P26224</li><li>Q9BEA0</li><li>P01132</li><li>P01133</li><li>Q13164</li><li>Q95ND4</li><li>P83108</li><li>Q00968</li><li>P07522</li>		rs2274315	3
Q14974	3837	<ul><li>I->A at 178: Largely reduced binding to FxFG repeats and reduced nuclear import</li><li>I->F,D at 178: Loss of binding to FxFG repeats and reduced nuclear import</li></ul>		nuclear import	GO:0051170	binding	GO:0005488						1
Q149N8	257218	<ul><li>C->A at 1432: Abolishes E3 activity</li></ul>	<li>Q->R at 438: in an ovarian cancer cell line</li><li>S->F at 460: in a melanoma cell line</li><li>N->Y at 1028: in a melanoma cell line</li>										3
Q15004	9768	<ul><li>I->A at 65: Loss of binding to PCNA</li><li>F->A at 68: Loss of binding to PCNA</li></ul>	<li>E->K at 79: in dbSNP:rs11554313</li>			binding	GO:0005488			<li>O16852</li><li>Q9HJQ0</li><li>Q6B6N4</li><li>Q8PX25</li><li>P61074</li><li>O29912</li><li>Q9DDF1</li><li>Q43124</li><li>Q57697</li><li>P18248</li><li>O02115</li><li>P53358</li><li>O01377</li><li>Q6LWJ8</li><li>Q9MAY3</li><li>Q00268</li><li>Q8TUF7</li><li>Q00265</li><li>Q9DEA3</li><li>P17070</li><li>Q9M7Q7</li><li>O58398</li><li>O10308</li><li>P17917</li><li>P31008</li><li>P61258</li><li>P17918</li><li>P11038</li><li>P15873</li><li>Q7T6Y0</li><li>Q03392</li><li>P22177</li><li>P04961</li><li>Q979S2</li><li>P57761</li><li>O73947</li><li>Q9W644</li><li>Q9UWR9</li><li>Q9PTP1</li><li>Q74MV1</li><li>Q8TWK3</li><li>O82134</li><li>Q9HN45</li><li>Q6KZF1</li><li>O82797</li><li>P12004</li><li>P24314</li><li>Q9UYX8</li><li>Q9P9H8</li><li>Q43266</li><li>O27367</li>		rs11554313	3
Q15014	9643	<ul><li>Missing at 132-136: Abrogates both transcriptional activation and repression by MORF4L2</li><li>L->A at 263: Abrogates both transcriptional activation and repression by MORF4L2</li></ul>								<li>Q5R905</li><li>Q15014</li><li>Q4R578</li>			1
Q15021	9918	<ul><li>RRTTRR->AATTAA at 1343-1348: Abolishes localization to the nucleus, while it only reduces chromosome binding</li><li>KKK->AAA at 1358-1360: Abolishes localization to the nucleus, while it only reduces chromosome binding</li></ul>	<li>E->Q at 83: in dbSNP:rs714774</li><li>V->M at 797: in dbSNP:rs10849482</li>	localization	GO:0051179	binding	GO:0005488	<li>chromosome</li><li>nucleus</li>	<li>GO:0005694</li><li>GO:0005634</li>			<li>rs10849482</li><li>rs714774</li>	3
Q15027	9744	<ul><li>K->N at 274: Loss of binding to PIP2 and PIP3. Loss of association with endosomal tubules when coexpressed with PIP5K1C</li><li>R->Q at 448: Loss of GAP acitivity. No effect on GULP1 binding or association with endosomal tubules when coexpressed with PIP5K1C</li><li>S->A at 554: Loss of phosphorylation by PKB, interaction with ITGB1 and ITGB1-dependent cell migration</li><li>S->A at 724: Loss of phosphorylation at Ser-554, interaction with ITGB1 and ITGB1-dependent cell migration</li></ul>	<li>R->C at 68: in dbSNP:rs35933585</li><li>K->R at 114: in a breast cancer sample; somatic mutation</li><li>R->Q at 129: in a colorectal cancer sample; somatic mutation</li><li>R->W at 533: in dbSNP:rs35019942</li>	<li>phosphorylation</li><li>cell migration</li>	<li>GO:0016310</li><li>GO:0016477</li>	binding	GO:0005488			<li>Q8INB9</li><li>P93004</li><li>P18168</li><li>Q92263</li><li>P53044</li><li>P31750</li><li>Q9GLP0</li><li>Q5PEA9</li><li>P74873</li><li>P47196</li><li>P53712</li><li>Q01314</li><li>P53713</li><li>P74851</li><li>P50904</li><li>P20936</li><li>P05556</li><li>P07228</li><li>Q92211</li><li>P52960</li><li>P09851</li><li>Q02574</li><li>P52488</li><li>Q5RCA9</li><li>O60331</li><li>P31749</li>		<li>rs35019942</li><li>rs35933585</li>	3
Q15036	9784	<ul><li>K->A at 62: No association with endosomes</li></ul>						endosomes	GO:0005768				1
Q15042	22930	<ul><li>R->A at 619: No effect</li><li>R->A at 700: No effect</li><li>R->A at 728: Loss of function</li><li>R->A at 753: No effect</li></ul>	<li>N->S at 598: in dbSNP:rs10445686</li>									rs10445686	3
Q15047	9869	<ul><li>CDC->LDP at 729-731: Abolishes methyltransferase activity</li><li>H->K at 1224: Abolishes methyltransferase activity</li><li>C->A at 1226: Abolishes methyltransferase activity</li><li>C->Y at 1279: Abolishes methyltransferase activity</li></ul>	<li>N->S at 236: in dbSNP:rs2271075</li><li>P->S at 506: in dbSNP:rs17852587</li><li>A->G at 824: in dbSNP:rs2691551</li><li>A->P at 824: in dbSNP:rs2814054</li>							<li>Q00020</li><li>P03588</li><li>P03589</li><li>Q83270</li><li>P28931</li><li>P06011</li><li>P17769</li><li>P20122</li><li>Q66121</li><li>O40976</li><li>P28726</li><li>P27752</li><li>Q83264</li>		<li>rs2814054</li><li>rs2691551</li><li>rs17852587</li><li>rs2271075</li>	3
Q15057	23527	<ul><li>R->Q at 442: Loss of GAP acitivity</li></ul>								<li>P20936</li><li>Q92263</li><li>P09851</li><li>Q92211</li><li>Q5PEA9</li><li>P74873</li><li>P74851</li><li>P50904</li>			1
Q15072	7705	<ul><li>K->R at 157: Induces a decrease in sumoylation. Induces a strong decrease but does not abolishes sumoylation; when associated with R-169</li><li>K->R at 169: Induces a decrease in sumoylation. Induces a strong decrease but does not abolishes sumoylation; when associated with R-157</li></ul>	<li>R->K at 8: in dbSNP:rs2070132</li>	sumoylation	GO:0016925							rs2070132	3
Q15075	8411	<ul><li>E->A at 39: Strongly reduces interaction with RAB5C</li><li>F->A at 41: Strongly reduces interaction with RAB5C</li><li>I->A at 42: Strongly reduces interaction with RAB5C</li><li>P->A at 44: Strongly reduces interaction with RAB5C</li><li>M->A at 47: Strongly reduces interaction with RAB5C</li><li>Y->A at 60: Strongly reduces interaction with RAB5C</li><li>W->A at 1349: Reduces phosphatidylinositol 3-phosphate binding and endosomal location</li><li>D->V at 1352: Reduces phosphatidylinositol 3-phosphate binding and endosomal location</li><li>N->D at 1357: Reduces phosphatidylinositol 3-phosphate binding and endosomal location</li><li>C->S at 1358: Abolishes phosphatidylinositol 3-phosphate binding and endosomal location</li><li>F->A at 1365: Strongly reduces phosphatidylinositol 3-phosphate binding and endosomal location</li><li>VT->EE,GG at 1367-1368: Abolishes phosphatidylinositol 3-phosphate binding and endosomal location</li><li>R->A at 1370: Abolishes endosomal location</li><li>R->A at 1371: Abolishes phosphatidylinositol 3-phosphate binding and endosomal location</li><li>H->A at 1372: Abolishes endosomal location</li><li>H->A at 1373: Abolishes phosphatidylinositol 3-phosphate binding and endosomal location</li><li>C->A at 1374: Abolishes phosphatidylinositol 3-phosphate binding and endosomal location</li><li>R->G at 1375: Abolishes phosphatidylinositol 3-phosphate binding and endosomal location</li><li>C->A at 1377: Abolishes phosphatidylinositol 3-phosphate binding and endosomal location</li><li>G->A at 1378: Abolishes phosphatidylinositol 3-phosphate binding and endosomal location</li><li>C->A at 1385: Abolishes phosphatidylinositol 3-phosphate binding and endosomal location</li><li>R->G at 1400: Strongly reduces phosphatidylinositol 3-phosphate binding and abolishes endosomal location</li><li>C->S at 1405: Abolishes phosphatidylinositol 3-phosphate binding and endosomal location</li></ul>	<li>K->Q at 810: in dbSNP:rs10745623</li>			phosphate binding	GO:0042301			<li>Q58DS9</li><li>P51147</li><li>P51148</li>		rs10745623	3
Q15078	8851	<ul><li>G->A at 2: Absent from the cell periphery</li></ul>											1
Q15080	4689	<ul><li>T->A at 154: Reduces phosphorylation</li><li>T->A at 211: No effect on phosphorylation</li><li>T->A at 251: No effect on phosphorylation</li><li>T->A at 274: No effect on phosphorylation</li><li>S->A at 315: Reduces phosphorylation</li><li>T->A at 327: No effect on phosphorylation</li></ul>	<li>L->I at 147</li><li>R->H at 153: in dbSNP:rs35160112</li>	phosphorylation	GO:0016310							rs35160112	3
Q15125	10682	<ul><li>W->A at 68: Reduces catalytic activity to less than 35% of wild-type</li><li>I->A at 75: Reduces catalytic activity to less than 35% of wild-type</li><li>H->A at 76: Reduces catalytic activity to less than 10% of wild-type</li><li>E->A at 80: Reduces catalytic activity to less than 10% of wild-type</li><li>Y->W at 111: Reduces catalytic activity to less than 2% of wild-type</li><li>M->A at 121: Reduces catalytic activity to less than 35% of wild-type</li><li>M->V at 121: No effect on catalytic activity</li><li>E->A at 122: Reduces catalytic activity to less than 10% of wild-type</li><li>T->A at 125: Reduces catalytic activity to less than 10% of wild-type</li><li>Y->A at 188: Reduces catalytic activity to less than 35% of wild-type</li><li>F->A at 189: Reduces catalytic activity to less than 35% of wild-type</li><li>F->L at 189: No effect on catalytic activity</li><li>N->A at 193: Reduces catalytic activity to less than 10% of wild-type</li><li>W->A at 196: Reduces catalytic activity to less than 10% of wild-type</li></ul>	<li>E->K at 80: in CDPX2: in dbSNP rsrs28936073, MIM: 302960</li><ul><li>E->A at 80: Reduces catalytic activity to less than 10% of wild-type</li></ul><li>R->Q at 110: in CDPX2, MIM: 302960</li></ul><li>R->G at 147: in CDPX2, MIM: 302960</li></ul><li>R->H at 147: in CDPX2: in dbSNP rsrs28935174, MIM: 302960</li></ul>			catalytic activity	GO:0003824				Chondrodysplasia punctata X-linked dominant type 2 (CDPX2) [MIM:302960]	<li>rs28935174</li><li>rs28936073</li>	4
Q15139	5587	<ul><li>Y->E at 432: Decreased phosphorylation level when coexpressed with SRC in HeLa cells. Unchanged phosphorylation level when coexpressed with ABL</li><li>Y->F at 432: Decreased phosphorylation level when coexpressed with SRC in HeLa cells. Unchanged phosphorylation level when coexpressed with ABL. Unaltered kinase activity. Decreased kinase activity; when associated with F-463 and F-502</li><li>Y->E at 463: Constitutive activation and constitutive phosphorylation of S-738 and S-742</li><li>Y->F at 463: Decreased phosphorylation level when coexpressed with either SRC or ABL in HeLa cells. Decreased kinase activity</li><li>Y->E at 502: Loss of activation</li><li>Y->F at 502: Decreased phosphorylation level when coexpressed with SRC in HeLa cells. Unchanged phosphorylation level when coexpressed with ABL. Unaltered kinase activity. Decreased kinase activity; when associated with F-432 and F-502</li></ul>	<li>H->Y at 152: in a colorectal cancer sample; somatic mutation</li><li>S->P at 225</li><li>K->Q at 478: in dbSNP:rs55852813</li><li>P->S at 585: in a metastatic melanoma sample; somatic mutation</li><li>R->M at 677: in a lung bronchoalveolar carcinoma sample; somatic mutation</li><li>P->L at 679: in dbSNP:rs34588699</li><li>R->K at 825: in dbSNP:rs11161065</li><li>E->K at 857: in a colorectal cancer sample; somatic mutation</li><li>H->R at 891: in dbSNP:rs45582934</li>	phosphorylation	GO:0016310	kinase activity	GO:0016301			<li>P00521</li><li>P11681</li><li>Q00022</li><li>P00523</li><li>P12931</li><li>P10447</li><li>P00519</li>		<li>rs45582934</li><li>rs11161065</li><li>rs34588699</li><li>rs55852813</li>	3
Q15170	9338	<ul><li>SS->AA at 31-32: Slight decrease of transcriptional repression</li><li>SS->AA at 36-37: Loss of transcriptional repression</li><li>SS->AA at 41-42: No effect on transcriptional repression</li><li>SS->AA at 47-48: Slight decrease of transcriptional repression</li></ul>											1
Q15208	11329	<ul><li>T->A at 74: Decreases autophosphorylation and kinase activity. Reduced binding of S100B</li><li>K->A at 118: Loss of autophosphorylation and kinase activity</li><li>S->A at 281: Loss of autophosphorylation and kinase activity</li><li>T->A at 444: Decreases autophosphorylation and kinase activity</li></ul>	<li>E->K at 18: in a metastatic melanoma sample; somatic mutation</li><li>D->N at 145: in dbSNP rsrs56005153</li><li>K->R at 267: in dbSNP rsrs56105564</li>	autophosphorylation	GO:0046777	<li>kinase activity</li><li>binding</li>	<li>GO:0016301</li><li>GO:0005488</li>			<li>P02638</li><li>Q6YNR6</li><li>P04271</li>		<li>rs56105564</li><li>rs56005153</li>	3
Q15287	10921	<ul><li>S->A at 53: Abolishes phosphorylation by CSNK2A1 and partially reduces splicing stimulation. Does not abolish interaction with CSNK2A1 and subcellular localization</li><li>S->E at 53: Partially reduces splicing stimulation. Does not abolish interaction with CSNK2A1 and subcellular localization</li><li>Y->A at 205: Abolishes exon-skipping</li><li>Y->A at 207: Abolishes exon-skipping</li></ul>		<li>phosphorylation</li><li>localization</li>	<li>GO:0016310</li><li>GO:0051179</li>					<li>P33674</li><li>P21868</li><li>P68399</li><li>P68400</li>			1
Q15303	2066	<ul><li>Y->A at 1035: No effect on interaction with WWOX. Abolishes interaction with WWOX; when associated with A-1301</li><li>Y->A at 1301: No effect on interaction with WWOX. Abolishes interaction with WWOX; when associated with A-1035</li></ul>	<li>T->I at 140: in a colorectal adenocarcinoma sample; somatic mutation</li><li>S->Y at 303: in a lung squamous cell carcinoma sample; somatic mutation</li>							<li>Q5F389</li><li>Q5R9W5</li><li>Q9NZC7</li><li>Q9VLU5</li>			3
Q15386	9690	<ul><li>C->A at 1051: Loss of activity</li></ul>											1
Q15435	5510	<ul><li>D->V at 148: Completely abolishes the interaction with protein phosphatase 1</li><li>F->A at 170: Severely impaired the binding of protein phosphatase 1</li><li>E->A at 192: Completely abolishes the interaction with protein phosphatase 1</li><li>F->A at 214: Completely abolishes the interaction with protein phosphatase 1</li><li>D->A at 280: Severely impairs the binding of protein phosphatase 1</li><li>E->A at 300: Completely abolishes the interaction with protein phosphatase 1</li><li>W->A at 302: Completely abolishes the interaction with protein phosphatase 1</li><li>Y->A at 327: Completely abolishes the interaction with protein phosphatase 1</li></ul>				binding	GO:0005488			<li>Q7M7K5</li><li>Q5X1E5</li><li>Q7MAZ9</li><li>Q8XBL4</li><li>Q7MBF4</li><li>Q5P3T0</li><li>Q88A53</li><li>Q5PC82</li><li>Q8Z3M9</li><li>Q821A6</li><li>Q5ZRX9</li><li>Q87SK9</li><li>Q9JZ88</li><li>Q9CP21</li><li>Q82U82</li><li>Q9I5V3</li><li>Q5F8K9</li><li>Q63YC3</li><li>Q8Y395</li><li>Q6LV05</li><li>Q8ZLY4</li><li>Q6FA38</li><li>Q9PDL7</li><li>Q62EU1</li><li>Q9JUB2</li><li>Q5WT58</li><li>Q665U9</li><li>Q57JQ5</li><li>Q9KPC6</li><li>Q8CWL6</li><li>Q8P5D4</li><li>Q8PPG9</li><li>P06961</li><li>P45269</li><li>Q88QU2</li><li>Q9L7A3</li><li>Q6D160</li><li>Q87DS9</li><li>Q60CQ4</li><li>Q8ZI64</li><li>Q65Q41</li><li>Q5E2K7</li><li>Q8CXX6</li>			1
Q15464	6461	<ul><li>R->K at 435: Loss of interaction with CD3Z. Alters LAT, PLCG1, VAV1 and LCP2 phosphorylation, MAP kinase signaling, Rac1 and JNK activation, intracellular calcium increase, activation of the nuclear factor for activation of T-cells and subsequent interleukin-2 expression which normally occur upon T-cells stimulation</li></ul>		phosphorylation	GO:0016310			intracellular	GO:0005622	<li>P25782</li><li>P20963</li><li>P29329</li><li>P08487</li><li>P63001</li><li>Q9TUF8</li><li>P19174</li><li>Q9XSJ9</li><li>P40792</li><li>O43561</li><li>P41929</li><li>Q13094</li><li>Q966Y3</li><li>P15498</li><li>P92208</li><li>Q6RUV5</li>			1
Q15465	6469	<ul><li>C->S at 24: Abolishes palmitoylation</li></ul>	<li>R->T at 6: in HPE3, MIM: 142945</li><li>G->A at 27: in HPE3, MIM: 142945</li><li>G->R at 31: in HPE3; dbSNP:rs28936675, MIM: 142945</li><li>D->V at 88: in HPE3; familial, MIM: 142945</li><li>Q->H at 100: in HPE3; sporadic, MIM: 142945</li><li>Missing  at 106-107: in HPE3, MIM: 142945</li><li>A->D at 110: in HPE3, MIM: 142945</li><li>I->F at 111: in SMMCI, MIM: 147250</li><li>I->N at 111: in HPE3, MIM: 142945</li><li>N->K at 115: in HPE3; familial, MIM: 142945</li><li>W->G at 117: in HPE3, MIM: 142945</li><li>W->R at 117: in HPE3, MIM: 142945</li><li>H->P at 140: in HPE3, MIM: 142945</li><li>H->Q at 140: in HPE3, MIM: 142945</li><li>T->R at 150: in HPE3, MIM: 142945</li><li>Missing  at 176-178: in HPE3, MIM: 142945</li><li>C->F at 183: in HPE3, MIM: 142945</li><li>E->Q at 188: in HPE3; familial, MIM: 142945</li><li>D->N at 222: in HPE3; familial, MIM: 142945</li><li>V->E at 224: in HPE3, MIM: 142945</li><li>A->T at 226: in HPE3; familial, MIM: 142945</li><li>S->R at 236: in HPE3; familial, MIM: 142945</li><li>Missing  at 263-269: in HPE3; sporadic, MIM: 142945</li><li>T->I at 267: in HPE3, MIM: 142945</li><li>L->P at 271: in HPE3, MIM: 142945</li><li>G->D at 290: in HPE3; sporadic, MIM: 142945</li><li>V->A at 332: in HPE3, MIM: 142945</li><li>P->Q at 347: in HPE3, MIM: 142945</li><li>I->T at 354: in HPE3, MIM: 142945</li><li>A->T at 373: in HPE3, MIM: 142945</li><li>Missing  at 378-380: in HPE3; familial, MIM: 142945</li><li>R->P at 381: in HPE3, MIM: 142945</li><li>A->T at 383: in HPE3; sporadic, MIM: 142945</li><li>Missing  at 401-408: in ocular coloboma, MIM: 142945</li><li>Missing  at 404-408: in HPE3; familial, MIM: 142945</li><li>P->A at 424: in HPE3; familial, MIM: 142945</li><li>S->L at 436: in HPE3; sporadic, MIM: 142945</li>								<li>Solitary median maxillary central incisor (SMMCI) [MIM:147250]</li><li>Holoprosencephaly type 3 (HPE3) [MIM:142945]</li>	rs28936675	3
Q15545	6879	<ul><li>K->R at 5: Abolishes methylation in vitro</li></ul>	<li>S->R at 178</li>										3
Q15596	10499	<ul><li>LL->AA at 644-645: By itself, does not affect nuclear receptor binding or transcriptional coactivation. Abrogates ligand-induced nuclear receptor binding and transactivation; when associated with 693-A-A-694 and 748-A-A-749</li><li>LL->AA at 693-694: By itself, does not affect nuclear receptor binding or transcriptional coactivation. Abrogates ligand-induced nuclear receptor binding and transactivation; when associated with 644-A-A-665 and 748-A-A-749</li><li>LL->AA at 748-749: By itself, does not affect nuclear receptor binding or transcriptional coactivation. Abrogates ligand-induced nuclear receptor binding and transactivation; when associated with 644-A-A-665 and 693-A-A-694</li><li>LLDQL->AADQA at 1079-1083: Reduces transcriptional coactivation and disrupts interaction with CREBBP/CBP</li><li>DQ->AA at 1081-1082: Has little effect on transcriptional coactivation</li></ul>	<li>M->I at 1282: in dbSNP:rs2228591</li>			receptor binding	GO:0005102			<li>O42720</li><li>P0AEN0</li><li>P0AEM9</li><li>Q92793</li><li>Q39962</li><li>Q9NWQ8</li><li>P00303</li><li>Q61990</li>		rs2228591	3
Q15637	7536	<ul><li>KKR->EED at 15-17: Abolishes interaction with U2AF2</li><li>KRK->EDE at 16-18: Abolishes interaction with U2AF2</li><li>S->A at 20: Strongly decreases interaction with U2AF2 and spliceosome assembly</li><li>S->T at 20: Decreases interaction with U2AF2</li><li>R->A at 21: Decreases interaction with U2AF2 and spliceosome assembly</li><li>R->K at 21: No effect</li><li>W->A at 22: Abolishes interaction with U2AF2</li><li>W->F at 22: No effect</li><li>N->A at 151: Decreases RNA-binding</li><li>R->A at 160: Strongly reduces RNA-binding</li><li>K->A at 184: Abolishes RNA-binding</li><li>L->A at 244: Decreases RNA-binding</li><li>L->A at 247: Decreases RNA-binding</li><li>L->A at 254: Slightly decreases RNA-binding</li><li>R->A at 255: Slightly decreases RNA-binding</li></ul>	<li>S->T at 357</li>	spliceosome assembly	GO:0000245	RNA-binding	GO:0003723			P26368			3
Q15642	9322	<ul><li>I->S at 454: Abrogates interaction with CDC42</li><li>L->S at 468: Impairs interaction with CDC42</li></ul>								<li>O94103</li><li>Q90694</li><li>O14426</li><li>P60953</li><li>P60952</li><li>Q17031</li><li>Q9HF56</li><li>P19073</li>			1
Q15648	5469	<ul><li>SQNPILTSLLQITG- at 599-612: Enhances interaction with ESR1</li><li>QNPILTSLLQITG-> at 600-612: Enhances interaction with ESR1</li><li>L->A at 604: Impairs interaction with ESR2; when associated with A-607; A-645 and A-648</li><li>LL->AA at 607-608: Impairs interaction with ESR1, PPARG, RXRA and THRB. Impairs interaction with THRA; when associated with 648-A-A-649</li><li>L->A at 607: Impairs interaction with ESR2; when associated with A-604; A-645 and A-648</li><li>TKNHPMLMNLLKDNP at 639-653: Enhances interaction with ESR1</li><li>L->A at 645: Impairs interaction with ESR2; when associated with A-604; A-607 and A-648</li><li>LL->AA at 648-649: Impairs interaction with ESR1, PPARG, THRB and VDR. Impairs interaction with THRA; when associated with 607-A-A-608</li><li>L->A at 648: Impairs interaction with ESR2; when associated with A-604; A-607 and A-645</li><li>T->A at 1032: Enhances protein stability; when associated with A-1457</li><li>T->A at 1457: Enhances protein stability; when associated with A-1032</li></ul>	<li>P->T at 753: in dbSNP:rs1139825</li><li>S->G at 1240: in dbSNP:rs35668211</li>							<li>Q91279</li><li>O13124</li><li>Q9W6I9</li><li>Q9YHT3</li><li>P50242</li><li>P50241</li><li>O42450</li><li>O19052</li><li>P50240</li><li>Q95MH5</li><li>P06212</li><li>O18924</li><li>P49885</li><li>Q53AD2</li><li>Q9W6M2</li><li>P49886</li><li>O13012</li><li>O42295</li><li>Q9QZJ5</li><li>P57797</li><li>Q9PTU5</li><li>Q90382</li><li>O93511</li><li>P16058</li><li>Q92731</li><li>Q02777</li><li>Q9PVZ9</li><li>Q28037</li><li>Q9W6N4</li><li>Q4U3Q4</li><li>P57753</li><li>P49701</li><li>Q02965</li><li>Q9XSB5</li><li>Q9YHZ7</li><li>Q9TTE5</li><li>O18971</li><li>Q9XSW2</li><li>Q91250</li><li>Q29040</li><li>P38111</li><li>O57606</li><li>O97716</li><li>O62807</li><li>Q28570</li><li>P04625</li><li>O42392</li><li>Q9PVE2</li><li>Q95171</li><li>P37231</li><li>Q28571</li><li>P68306</li><li>P68305</li><li>O42132</li><li>Q9TV98</li><li>P19793</li><li>Q9IAK1</li><li>P49884</li><li>P10828</li><li>P10827</li><li>Q91424</li><li>P11473</li><li>P48281</li><li>P03372</li><li>P13053</li><li>Q9YH33</li><li>Q9YH32</li><li>P37243</li><li>P57781</li><li>Q9TU15</li><li>P57782</li><li>Q9PUA8</li>		<li>rs35668211</li><li>rs1139825</li>	3
Q15653	4793	<ul><li>S->A at 19: No degradation; when associated with A-23</li><li>S->A at 23: No degradation; when associated with A-19</li></ul>	<li>R->W at 339: in dbSNP:rs17886215</li>									rs17886215	3
Q15691	22919	<ul><li>KK->EE at 59-60: No effect</li><li>K->E at 89: Loss of binding to microtubules</li></ul>				binding	GO:0005488	microtubules	GO:0005874				1
Q15722	1241	<ul><li>T->P,A at 308: No effect on affinity for leukotriene B4, induces resistance to desensitization by GRK6, but minor effect on phosphorylation by GRK6</li><li>S->A at 310: No effect on affinity for leukotriene B4 or on desensitization by GRK6</li></ul>		phosphorylation	GO:0016310					P43250			1
Q15750	10454	<ul><li>D->A at 213: Loss of interaction with XIAP</li><li>F->A at 216: Loss of interaction with XIAP</li></ul>	<li>D->E at 224: in dbSNP:rs17001096</li>							P98170		rs17001096	3
Q15759	5600	<ul><li>T->A at 180: Inactivation</li><li>Y->F at 182: Inactivation</li></ul>	<li>A->V at 221: in a lung neuroendocrine carcinoma sample; somatic mutation</li><li>R->H at 275: in dbSNP:rs33932986</li>									rs33932986	3
Q15768	1949	<ul><li>LW->YM at 124-125: Complete loss of Nipah protein G binding</li></ul>	<li>R->Q at 166</li>			binding	GO:0005488			<li>P62555</li><li>P62554</li>			3
Q15788	8648	<ul><li>LL->AA at 636-637: Slightly affects interactions with steroid receptors. Abolishes interactions with steroid receptors; when associated with A-693; A-694; A-752 and A-753</li><li>LL->AA at 693-694: Slightly affects interactions with steroid receptors. Abolishes interactions with steroid receptors; when associated with A-636; A-637; A-752 and A-753</li><li>K->R at 732: Abolishes sumoylation; when associated with R-774</li><li>LL->AA at 752-753: Slightly affects interactions with steroid receptors. Abolishes interactions with steroid receptors; when associated with A-636; A-637; A-693 and A-694</li><li>K->R at 774: Abolishes sumoylation; when associated with R-732</li><li>K->R at 800: Does not affect sumoylation of the protein</li><li>K->R at 846: Does not affect sumoylation of the protein</li><li>K->R at 1378: Does not affect sumoylation of the protein</li></ul>	<li>Q->K at 457: in dbSNP:rs1049015</li><li>N->K at 466: in dbSNP:rs1049016</li><li>S->P at 474: in dbSNP:rs1049018</li><li>I->T at 591: in dbSNP:rs1049020</li><li>E->A at 685: in dbSNP:rs1049021</li><li>P->A at 794: in dbSNP:rs1049025</li><li>S->F at 999: in dbSNP:rs1049032</li><li>M->T at 1154: in dbSNP:rs1049038</li><li>V->I at 1238: in dbSNP rsrs56099330</li><li>P->S at 1272: in dbSNP:rs1804645</li>	sumoylation	GO:0016925							<li>rs1804645</li><li>rs56099330</li><li>rs1049038</li><li>rs1049018</li><li>rs1049016</li><li>rs1049015</li><li>rs1049032</li><li>rs1049025</li><li>rs1049020</li><li>rs1049021</li>	3
Q15796	4087	<ul><li>K->R at 19: Loss of acetylation</li><li>K->R at 20: No effect on acetylation</li><li>Missing at 221-225: Loss of binding to SMURF2</li><li>N->S at 381: Loss of binding to SARA</li></ul>	<li>R->C at 133: in colorectal carcinoma</li><li>D->V at 300: in a colorectal cancer sample; somatic mutation</li><li>Missing  at 344-358: in colorectal carcinoma</li><li>L->R at 440: in colorectal carcinoma</li><li>P->H at 445: in colorectal carcinoma</li><li>D->E at 450: in colorectal carcinoma</li>			binding	GO:0005488			<li>O95405</li><li>Q9NR31</li><li>Q9HAU4</li>			3
Q15797	4086	<ul><li>G->S at 419: Loss of phosphorylation</li></ul>		phosphorylation	GO:0016310								1
Q15811	6453	<ul><li>M->L at 1369: Decreases specificity for CDC42; when associated with I-1376</li><li>L->I at 1376: Decreases specificity for CDC42; when associated with L-1369</li></ul>								<li>O94103</li><li>Q90694</li><li>O14426</li><li>P60953</li><li>P60952</li><li>Q17031</li><li>Q9HF56</li><li>P19073</li>			1
Q15831	6794	<ul><li>D->Y at 176: Loss of kinase activity</li><li>D->A at 194: Loss of kinase activity</li></ul>	<li>Y->D at 49: in melanoma; sporadic malignant; somatic mutation</li><li>L->P at 67: in PJS, MIM: 175200</li><li>R->K at 87: in a metastatic melanoma sample; somatic mutation, MIM: 175200</li><li>G->R at 135: in melanoma; sporadic malignant; somatic mutation, MIM: 175200</li><li>DGL->NDM at 162-164: in PJS, MIM: 175200</li><li>G->D at 163: in testicular tumors; a tumor with seminoma and teratoma components; associated with severely impaired but detectable kinase activity; somatic mutation, MIM: 273300</li><li>D->N at 194: in PJS, MIM: 175200</li><ul><li>D->A at 194: Loss of kinase activity</li></ul><li>D->Y at 194: in melanoma; sporadic malignant; somatic mutation, MIM: 175200</li><ul><li>D->A at 194: Loss of kinase activity</li></ul><li>W->C at 239: in PJS; late onset suggests reduced penetrance, MIM: 175200</li></ul><li>Missing  at 247: in PJS, MIM: 175200</li></ul><li>R->K at 297: in PJS, MIM: 175200</li></ul><li>IRQH->N at 303-306: in PJS, MIM: 175200</li></ul><li>P->S at 315: in PJS; pathogenicity uncertain, MIM: 175200</li></ul>			kinase activity	GO:0016301			Q15831	<li>Peutz-Jeghers syndrome (PJS) [MIM:175200]</li><li>Testicular tumors [MIM:273300]</li>		4
Q15843	4738	<ul><li>A->R at 72: Prevents adenylation by UBE1C</li></ul>								<li>Q5R4A0</li><li>Q8TBC4</li>			1
Q15848	9370	<ul><li>K->R at 33: No effect on formation of HMW multimers</li><li>C->S at 36: Impaired formation of MMW and HMW multimers</li><li>K->R at 65: Impaired formation of HMW multimers; when associated with R-68</li><li>K->R at 68: Impaired formation of HMW multimers; when associated with R-65</li><li>K->R at 77: Impaired formation of HMW multimers; when associated with R-101</li><li>K->R at 101: Impaired formation of HMW multimers; when associated with R-77</li></ul>	<li>G->R at 84: does not form high molecular weight multimers</li><li>G->S at 90: does not form high molecular weight multimers</li><li>Y->H at 111: in dbSNP:rs17366743</li><li>R->C at 112: in ADPND; does not assemble into trimers resulting in impaired secretion from the cell, MIM: 605441</li><li>V->M at 117, MIM: 605441</li><li>I->T at 164: associated with low plasma adiponectin concentration and diabetes mellitus type 2; does not assemble into trimers resulting in impaired secretion from the cell, MIM: 605441</li><li>R->S at 221, MIM: 605441</li><li>H->P at 241, MIM: 605441</li>	secretion	GO:0046903						Adiponectin deficiency [MIM:605441]	rs17366743	3
Q15910	2146	<ul><li>S->A at 21: Enhances methyltransferase activity towards 'Lys-27' of histone H3 and abrogates phosphorylation by PKB/AKT1</li><li>S->D at 21: Reduces methyltransferase activity towards 'Lys-27' of histone H3 and abrogates phosphorylation by PKB/AKT1</li><li>C->Y at 588: Strongly impairs methyltransferase activity towards 'Lys-27' of histone H3</li><li>H->A at 689: Abrogates methyltransferase activity</li></ul>		phosphorylation	GO:0016310					<li>P61835</li><li>P13345</li><li>P61834</li><li>P13344</li><li>P61833</li><li>Q98RY4</li><li>P61832</li><li>P03588</li><li>P61831</li><li>P03589</li><li>P61830</li><li>Q8INB9</li><li>P07041</li><li>Q38998</li><li>P02299</li><li>P28726</li><li>Q757N1</li><li>P61836</li><li>P05821</li><li>P23630</li><li>Q00020</li><li>P51728</li><li>Q03709</li><li>Q66121</li><li>Q7XYZ0</li><li>Q9T1X2</li><li>Q9U7D1</li><li>Q5DWI3</li><li>Q9P427</li><li>P83864</li><li>P90543</li><li>P10099</li><li>P08437</li><li>P31750</li><li>P15176</li><li>P47196</li><li>Q01314</li><li>Q8VYX2</li><li>P50564</li><li>Q83270</li><li>P28931</li><li>P06011</li><li>Q06196</li><li>P08898</li><li>Q9HDN1</li><li>P17769</li><li>P20122</li><li>P23753</li><li>O40976</li><li>Q2UCQ0</li><li>P80553</li><li>P40285</li><li>P84239</li><li>P84238</li><li>P84237</li><li>P27752</li><li>P84236</li><li>P31749</li><li>P84235</li><li>P22843</li><li>Q83264</li>			1
Q15942	7791	<ul><li>F->A at 71: Reduced interaction with ENAH and VASP</li><li>F->A at 93: Reduced interaction with ENAH and VASP</li><li>F->A at 104: Greatly reduced interaction with ENAH and VASP; when associated with A-71 or with A-71 and A-93</li><li>F->A at 114: No targeting to focal adhesions and reduced actin-rich structures; when associated with A-71; A-93 and A-104</li></ul>	<li>H->L at 223: in dbSNP:rs11978404</li>					focal adhesions	GO:0005925	<li>Q92192</li><li>Q92193</li><li>P53499</li><li>P26183</li><li>P53498</li><li>O13419</li><li>Q9P4D1</li><li>P48465</li><li>P53455</li><li>Q39596</li><li>Q39758</li><li>P26182</li><li>P80709</li><li>Q9UVX4</li><li>P78711</li><li>P53689</li><li>O17320</li><li>P30161</li><li>P17128</li><li>P45521</li><li>P81085</li><li>P45520</li><li>P20904</li><li>Q6TCF2</li><li>Q99023</li><li>Q75D00</li><li>P51775</li><li>P10365</li><li>P60011</li><li>P60010</li><li>Q8SWN8</li><li>O16808</li><li>P02577</li><li>P10989</li><li>P68555</li><li>Q05214</li><li>Q8X119</li><li>O65316</li><li>O65315</li><li>O65314</li><li>P53491</li><li>P91754</li><li>P13363</li><li>P11426</li><li>O81221</li><li>Q11212</li><li>P50138</li><li>P53477</li><li>P53476</li><li>P70460</li><li>P60009</li><li>P53502</li><li>Q2TA49</li><li>Q2U7A3</li><li>P53500</li><li>Q9UVZ8</li><li>O00937</li><li>P14235</li><li>Q9UVF3</li><li>Q24733</li><li>P90689</li><li>P24902</li><li>P50551</li><li>P50552</li><li>O74258</li><li>Q8N8S7</li>		rs11978404	3
Q16206	10495	<ul><li>M->A at 396: No effect on activity but response to capsaicin is lost</li><li>C->A at 505: No effect on activity</li><li>C->A at 510: Loss of activity</li><li>H->A at 546: Loss of activity</li><li>C->A at 558: Period length of activity extended to 42 minutes</li><li>H->A at 562: Loss of activity</li><li>C->A at 569: Loss of activity</li><li>C->A at 575: Period length of activity extended to 36 minutes</li><li>G->V at 592: Loss of activity</li><li>C->A at 602: Period length of activity extended to 36 minutes</li></ul>											1
Q16236	4780	<ul><li>T->A at 80: Loss of interaction with KEAP1</li></ul>	<li>R->Q at 43: in dbSNP:rs35248500</li><li>S->P at 99: in dbSNP:rs5031039</li><li>V->M at 268: in dbSNP:rs34154613</li>							Q14145		<li>rs5031039</li><li>rs34154613</li><li>rs35248500</li>	3
Q16394	2131	<ul><li>Q->A,P at 27: No effect on heparan-sulfate biosynthesis</li><li>Missing at 27: No effect on heparan-sulfate biosynthesis</li><li>D->E at 164: Abolishes heparan-sulfate biosynthesis</li><li>Missing at 164: Abolishes heparan-sulfate biosynthesis</li><li>N->A at 316: No effect on heparan-sulfate biosynthesis</li><li>Missing at 316: No effect on heparan-sulfate biosynthesis</li><li>A->H at 486: No effect on heparan-sulfate biosynthesis</li><li>Missing at 486: No effect on heparan-sulfate biosynthesis</li><li>P->H at 496: No effect on heparan-sulfate biosynthesis</li><li>Missing at 496: No effect on heparan-sulfate biosynthesis</li></ul>	<li>Q->K at 27: in EXT1; no loss of activity, MIM: 133700</li><ul><li>Q->A,P at 27: No effect on heparan-sulfate biosynthesis</li><li>Missing at 27: No effect on heparan-sulfate biosynthesis</li></ul><li>D->H at 164: in EXT1; loss of activity, MIM: 133700</li><ul><li>D->E at 164: Abolishes heparan-sulfate biosynthesis</li><li>Missing at 164: Abolishes heparan-sulfate biosynthesis</li></ul><li>MLAKASIS->I at 215-222: in isolated osteochondroma; somatic mutation, MIM: 133700</li></ul><li>Missing  at 215-221: in EXT1, MIM: 133700</li></ul><li>Missing  at 235-239: in multiple osteochondromas, MIM: 133700</li></ul><li>R->G at 280: in EXT1; loss of activity, MIM: 133700</li></ul><li>R->S at 280: in EXT1; loss of activity, MIM: 133700</li></ul><li>N->S at 316: in chondrosarcoma; no loss of activity, MIM: 215300</li><ul><li>N->A at 316: No effect on heparan-sulfate biosynthesis</li><li>Missing at 316: No effect on heparan-sulfate biosynthesis</li></ul><li>G->D at 339: in EXT1; loss of activity, MIM: 133700</li></ul><li>R->C at 340: in EXT1; loss of activity; still able to form an oligomeric complex, MIM: 133700</li></ul><li>R->H at 340: in EXT1; loss of activity, MIM: 133700</li></ul><li>R->L at 340: in EXT1; loss of activity, MIM: 133700</li></ul><li>R->S at 340: in EXT1; loss of activity, MIM: 133700</li></ul><li>A->V at 486: in EXT1; no loss of activity, MIM: 133700</li><ul><li>A->H at 486: No effect on heparan-sulfate biosynthesis</li><li>Missing at 486: No effect on heparan-sulfate biosynthesis</li></ul><li>P->L at 496: in EXT1; no loss of activity, MIM: 133700</li><ul><li>P->H at 496: No effect on heparan-sulfate biosynthesis</li><li>Missing at 496: No effect on heparan-sulfate biosynthesis</li></ul><li>Missing  at 627: in EXT1; loss of activity, MIM: 133700</li></ul>	biosynthesis	GO:0009058					<li>Q9JK82</li><li>Q16394</li><li>Q38913</li>	<li>Chondrosarcoma [MIM:215300]</li><li>Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]</li>		4
Q16512	5585	<ul><li>K->R at 644: Substantial reduction of autophosphorylation</li></ul>	<li>R->C at 185: in a metastatic melanoma sample; somatic mutation</li><li>A->E at 197</li><li>R->W at 436: in dbSNP rsrs35132656</li><li>R->Q at 520: in dbSNP rsrs56273055</li><li>L->I at 555: in dbSNP rsrs34309238</li><li>R->Q at 635: in dbSNP rsrs35416389</li><li>I->V at 718</li><li>F->L at 873: in a breast infiltrating ductal carcinoma sample; somatic mutation</li><li>V->I at 901: in dbSNP:rs10846</li><li>A->V at 921: in a colorectal adenocarcinoma sample; somatic mutation</li>	autophosphorylation	GO:0046777							<li>rs34309238</li><li>rs56273055</li><li>rs35416389</li><li>rs35132656</li><li>rs10846</li>	3
Q16531	1642	<ul><li>YLDN->ALAA at 316-319: Impairs interaction with DDA1</li><li>E->A at 537: Slightly impairs interaction with CUL4A</li><li>W->A at 561: Strongly impairs interaction with CUL4A</li><li>EAE->AAA at 840-842: Impairs interaction with AMBRA1, DTL, DET1, VPRBP, WDR22, WDR23 and WDR42A</li><li>MALY->AAAA at 910-913: Impairs interaction with AMBRA1, DTL and WDR22</li><li>W->A at 953: Impairs interaction with AMBRA1, ERCC8, WDR22 and WDR23</li></ul>	<li>L->F at 427: in dbSNP rsrs28720299</li>							<li>P41596</li><li>Q96JK2</li><li>Q5BIM8</li><li>Q9ZNU6</li><li>Q8TEB1</li><li>Q13619</li><li>Q13216</li><li>P48732</li><li>Q5E9I8</li><li>Q7L5Y6</li>		rs28720299	3
Q16539	1432	<ul><li>A->V at 34: Lowered kinase activity</li><li>K->R at 53: Loss of kinase activity</li><li>Y->H at 69: Lowered kinase activity</li><li>D->A at 168: Loss of kinase activity</li><li>T->A at 175: Loss of kinase activity</li><li>D->A at 176: Emulation of the active state. Increase in activity; when associated with S-327 or L-327</li><li>D->A at 177: Loss of kinase activity</li><li>T->E at 180: Loss of kinase activity</li><li>Y->F at 182: Loss of kinase activity</li><li>A->T at 320: Lowered kinase activity</li><li>F->L at 327: Emulation of the active state. Increase in activity; when associated with A-176</li><li>F->S at 327: Emulation of the active state. Increase in activity; when associated with A-176</li><li>W->R at 337: Loss of kinase activity</li></ul>	<li>A->V at 51: in a gastric adenocarcinoma sample; somatic mutation</li><li>P->R at 322: in a lung adenocarcinoma sample; somatic mutation</li><li>D->G at 343: in dbSNP rsrs45496794</li>			kinase activity	GO:0016301					rs45496794	3
Q16555	1808	<ul><li>D->N at 71: Inhibits axon outgrowth formation in hippocampal neurons and decreases binding to CYFIP1</li><li>S->A at 507: No effect</li><li>T->A at 509: Greatly diminishes binding to 3F4 antibody</li><li>T->A at 512: No effect</li><li>T->A at 514: No effect</li><li>S->A at 517: No effect</li><li>S->A at 518: Greatly diminishes binding to 3F4 antibody</li><li>T->A at 521: No effect</li><li>S->A at 522: Greatly diminishes binding to 3F4 antibody</li></ul>	<li>A->T at 118: in dbSNP:rs2289593</li><li>R->C at 481: in a colorectal cancer sample; somatic mutation</li>			binding	GO:0005488	axon	GO:0030424			rs2289593	3
Q16566	814	<ul><li>S->A at 12: Loss of activity</li><li>S->A at 13: Loss of activity</li><li>FN->DD at 320-321: Loss of interaction with PPP2CA/PPP2CB</li></ul>	<li>E->G at 150: in a lung adenocarcinoma sample; somatic mutation</li><li>D->N at 178: in dbSNP:rs35548075</li><li>Q->R at 465: in dbSNP rsrs56360861</li><li>I->M at 469: in a lung large cell carcinoma sample; somatic mutation</li>							<li>P67774</li><li>P62714</li><li>P67777</li><li>P67776</li><li>P67775</li><li>P48463</li><li>P11493</li><li>P11611</li>		<li>rs56360861</li><li>rs35548075</li>	3
Q16584	4296	<ul><li>K->A at 144: Greatly reduced autophosphorylation activity</li><li>K->R at 144: Loss of kinase activity. Prevents activation of SAPK and MAPK14</li><li>E->A at 164: Greatly reduced autophosphorylation activity</li><li>T->A at 277: Severely reduced autophosphorylation activity. Prevents phosphorylation of SAPK and MAPK14</li><li>T->E at 277: No effect on SAPK activation</li><li>T->A at 278: No effect on autophosphorylation activity or activation of SAPK and MAPK14</li><li>S->A at 281: Reduced autophosphorylation activity. Reduced activation of SAPK and MAPK14</li><li>S->E at 281: No effect on SAPK activation</li></ul>	<li>D->V at 151: in dbSNP:rs34178129</li><li>P->H at 252: in dbSNP:rs17855912</li><li>A->G at 282: in dbSNP:rs34594252</li>	<li>phosphorylation</li><li>autophosphorylation</li>	<li>GO:0016310</li><li>GO:0046777</li>	<li>kinase activity</li><li>SAPK</li>	<li>GO:0016301</li><li>GO:0016909</li>			<li>O02812</li><li>Q95NE7</li><li>Q16539</li>		<li>rs34178129</li><li>rs17855912</li><li>rs34594252</li>	3
Q16595	2395	<ul><li>R->G at 53: Abolished cleavage of frataxin(81-210); when associated with G-54</li><li>R->G at 54: Abolished cleavage of frataxin(81-210) and allows the accumulation of frataxin(56-210); when associated with G-53</li><li>R->G at 79: Abolished cleavage of frataxin(81-210) and allows the accumulation of frataxin(56-210); when associated with G-80</li><li>K->G at 80: Abolished cleavage of frataxin(81-210); when associated with G-79</li></ul>	<li>L->S at 106: in FA, MIM: 229300</li><li>D->Y at 122: in FA, MIM: 229300</li><li>G->V at 130: in FA, MIM: 229300</li><li>I->F at 154: in FA; reduces interaction with LYRM4. Interaction is rescued by nickel, MIM: 229300</li><li>W->R at 155: in FA; reduces interaction with LYRM4. Interaction is rescued by nickel, MIM: 229300</li><li>R->C at 165: in FA; mild form, MIM: 229300</li><li>L->F at 182: in FA, MIM: 229300</li><li>L->R at 198: in FA, MIM: 229300</li><li>S->C at 202: in dbSNP:rs1052195, MIM: 229300</li>							Q9HD34	Friedreich ataxia (FA) [MIM:229300]	rs1052195	3
Q16611	578	<ul><li>H->A at 164: Strongly reduced zinc binding and homodimerization</li></ul>	<li>A->V at 28: in dbSNP:rs4987115</li><li>R->H at 42: in dbSNP:rs1051911</li><li>S->R at 69: in dbSNP:rs5745592</li>			zinc binding	GO:0008270					<li>rs4987115</li><li>rs5745592</li><li>rs1051911</li>	3
Q16630	11052	<ul><li>G->V at 86: Abolishes interaction with NUDT21/CPSF5; when associated with V-87</li><li>N->V at 87: Abolishes interaction with NUDT21/CPSF5; when associated with V-86</li></ul>								<li>Q3ZCA2</li><li>O43809</li><li>Q8VY81</li><li>Q5RAI8</li>			1
Q16644	7867	<ul><li>K->M at 73: Higher affinity toward PCH2</li></ul>	<li>P->S at 28: in a glioblastoma multiforme sample; somatic mutation</li><li>E->A at 105: in an ovarian endometrioid sample; somatic mutation</li><li>D->Y at 276: in dbSNP rsrs56107897</li>							P38126		rs56107897	3
Q16649	4783	<ul><li>K->A at 330: Interacts with DR1 and partially affects transcriptional repression; when associated with E-332</li><li>K->E at 330: Does not interact with DR1 and drastically affects transcriptional repression; when associated with E-332</li><li>K->A at 332: Interacts with DR1 and partially affects transcriptional repression; when associated with E-330</li><li>K->E at 332: Does not interact with DR1 and drastically affects transcriptional repression; when associated with E-330</li></ul>								<li>Q5ZMV3</li><li>P04229</li><li>Q01658</li><li>P49592</li>			1
Q16658	6624	<ul><li>S->A at 39: Loss of phosphorylation</li></ul>		phosphorylation	GO:0016310								1
Q16665	3091	<ul><li>K->R at 377: No change in HIF1A protein turnover rate but increased transcriptional activity; when associated with R-391; R-477 and R-532</li><li>K->R at 389: No change in sumoylation</li><li>K->R at 391: Abolishes 1 sumoylation. Abolishes 1 sumoylation; when associated with R-532. Abolishes 2 sumoylations; when associated with R-477. No change in HIF1A protein turnover rate but increased transcriptional activity; when associated with R-377; R-477 and R-532</li><li>K->R at 392: No change in sumoylation</li><li>P->A at 394: No change in VHLE3-dependent ubiquitination</li><li>L->A at 397: Abolishes VHLE3-dependent ubiquitination; when associated with A-400</li><li>L->A at 400: Abolishes VHLE3-dependent ubiquitination; when associated with A-397</li><li>P->A at 402: Abolishes in VHLE3-dependent ubiquitination, abolishes oxygen-dependent regulation of VP16, partially reduced VHLE target site ubiquitination and no interaction with VHL. No VHLE target site ubiquitination; when associated with G-564</li><li>K->R at 442: No change in sumoylation</li><li>K->R at 460: No change in sumoylation nor in ARD1-mediated acetylation</li><li>K->R at 477: Abolishes 1 sumoylation. Abolishes 2 sumoylations; when asociated with R-391. No change in HIF1A protein turnover rate but increased transcriptional activity; when associated with R-377; R-391 and R-532</li><li>K->R at 532: Reduced ubiquitination. No change in sumoylation nor on interaction with ARD1A. No change in HIF1A protein turnover rate but increased transcriptional activity; when associated with R-377; R-391 and R-477. Complete loss of ubiquitination, but no change in VHL binding; when associated with K-538 and K-547</li><li>K->R at 538: No change in sumoylation, but reduced ubiquitination. Complete loss of ubiquitination, but no change in VHL binding; when associated with K-532 and K-547</li><li>K->R at 547: No change in sumoylation, but reduced ubiquitination. Complete loss of ubiquitination, but no change in VHL binding; when associated with K-532 and K-538</li><li>S->G at 551: Constitutive expression under nonhypoxic conditions by decreasing ubiquitination</li><li>T->A at 552: Constitutive expression under nonhypoxic conditions by decreasing ubiquitination</li><li>P->G at 564: No change in VHL-dependent ubiquitination. Partially reduced VHLE target site ubiquitination. No VHLE target site ubiquitination; when associated with A-402</li><li>K->T at 719: Dramatic reduction of accumulation in the nucleus in response to hypoxia</li><li>C->A at 800: Blocks increase in transcriptional activation caused by nitrosylation</li><li>C->S at 800: Abolishes hypoxia-inducible transcriptional activation of ctaD</li><li>N->A at 803: Recruits CREBBP. No enhancement of CREBBP by Clioquinol in the presence of FIH1. No change in nuclear location nor on repression of transcriptional activity in the presence of histone deacetylase inhibitor</li></ul>	<li>P->S at 582: in dbSNP:rs11549465</li><li>A->T at 588: in dbSNP:rs11549467</li><li>T->A at 796: in dbSNP:rs1802821</li>	<li>response to hypoxia</li><li>sumoylation</li>	<li>GO:0001666</li><li>GO:0016925</li>	binding	GO:0005488	nucleus	GO:0005634	<li>Q98SW2</li><li>Q79VD7</li><li>P24010</li><li>P41227</li><li>P50676</li><li>P36406</li><li>Q92793</li><li>Q05885</li><li>Q9XTA5</li><li>Q2KI14</li><li>P63852</li><li>Q08855</li><li>Q73VC3</li><li>P63853</li><li>Q6NFM3</li><li>Q9YIB9</li><li>P98005</li><li>O22446</li><li>Q5Q9Z2</li><li>P31833</li><li>P33517</li><li>Q338A9</li><li>Q04440</li><li>Q06473</li><li>P98059</li><li>Q8FMT1</li><li>P43066</li><li>Q309Z6</li><li>P16262</li><li>P07347</li><li>Q9NWT6</li><li>Q16665</li><li>P40337</li><li>Q92I67</li><li>Q0PGG7</li><li>P68335</li><li>Q12972</li><li>O54069</li><li>Q9CBQ5</li><li>O48707</li><li>P68336</li><li>Q00502</li>		<li>rs11549465</li><li>rs11549467</li><li>rs1802821</li>	3
Q16769	25797	<ul><li>R->W at 54: Lowers activity by approximately 30%: in dbSNP rsrs2255991</li><li>K->A at 144: Lowers activity by approximately 40%</li><li>F->A at 146: Lowers activity by approximately 30%</li><li>E->D,Q at 201: Abolishes activity</li><li>W->L at 207: Greatly lowers activity</li><li>D->A at 248: Abolishes activity</li><li>Q->L at 304: Lowers activity by approximately 35%</li><li>D->L at 305: Abolishes activity</li><li>F->A at 325: Greatly lowers activity</li><li>W->A at 329: Abolishes activity</li></ul>	<li>R->W at 54: in dbSNP:rs2255991</li><ul><li>R->W at 54: Lowers activity by approximately 30%</li></ul><li>Q->R at 71</li></ul><li>H->P at 360: in dbSNP:rs4670696</li></ul>									<li>rs2255991</li><li>rs4670696</li>	4
Q16777	8338	<ul><li>S->A at 2: Blocks the inhibition of transcription by RPS6KA5/MSK1</li></ul>		transcription	GO:0006350					<li>P32048</li><li>Q5F3L1</li><li>Q5R4K3</li><li>O75582</li>			1
Q16851	7360	<ul><li>C->S at 123: No significant loss of activity</li><li>W->S at 218: No significant loss of activity</li><li>H->R at 266: No significant loss of activity</li><li>W->S at 333: Loss of activity; possibly due to folding defect</li><li>R->H at 389: No significant loss of activity</li><li>R->H at 391: Loss of activity; possibly due to folding defect</li><li>R->H at 422: No significant loss of activity</li><li>R->H at 445: No significant loss of activity</li></ul>	<li>M->I at 268: in dbSNP:rs1130982</li>									rs1130982	3
Q16878	1036	<ul><li>R->Q at 60: Reduces enzyme activity by 70%. Reduces iron and zinc incorporation by 50%</li><li>C->S at 93: Reduces enzyme activity and iron incorporation by 50%. Zinc incorporation increased by 20%</li><li>Y->F at 157: Almost total loss of enzyme activity and iron incorporation. Reduces zinc incorporation by 20%</li><li>C->S at 164: Reduces enzyme activity by 20%. Little effect on iron incorporation. No effect on zinc incorporation</li></ul>	<li>T->I at 45: in dbSNP:rs1042867</li><li>E->Q at 143: in a colorectal cancer sample; somatic mutation</li>									rs1042867	3
Q2HXU8	387837	<ul><li>Y->F at 7: Abolishes tyrosine phosphorylation. Abolishes interaction with PTPN6 and PTPN11. Abolishes protection against natural killer cell-mediated cytotoxicity</li></ul>	<li>T->N at 6: in dbSNP:rs1359082</li><li>V->L at 116: in dbSNP:rs637790</li>	<li>phosphorylation</li><li>natural killer cell-mediated cytotoxicity</li>	<li>GO:0016310</li><li>GO:0042267</li>					<li>P29350</li><li>Q06124</li><li>Q90687</li>		<li>rs637790</li><li>rs1359082</li>	3
Q2M1K9	23090	<ul><li>N->A at 420: Abolishes the ability to bind promoter of BMP target genes; when associated A-426; A-452; A-458; A-491; A-497; A-528; A-534; A-574 and A-581</li><li>E->A at 426: Abolishes the ability to bind promoter of BMP target genes; when associated A-420; A-452; A-458; A-491; A-497; A-528; A-534; A-574 and A-581</li><li>T->A at 452: Abolishes the ability to bind promoter of BMP target genes; when associated A-420; A-426; A-458; A-491; A-497; A-528; A-534; A-574 and A-581</li><li>E->A at 458: Abolishes the ability to bind promoter of BMP target genes; when associated A-420; A-426; A-452; A-491; A-497; A-528; A-534; A-574 and A-581</li><li>D->A at 491: Abolishes the ability to bind promoter of BMP target genes; when associated A-420; A-426; A-452; A-458; A-497; A-528; A-534; A-574 and A-581</li><li>E->A at 497: Abolishes the ability to bind promoter of BMP target genes; when associated A-420; A-426; A-452; A-458; A-491; A-528; A-534; A-574 and A-581</li><li>T->A at 528: Abolishes the ability to bind promoter of BMP target genes; when associated A-420; A-426; A-452; A-458; A-491; A-497; A-534; A-574 and A-581</li><li>E->A at 534: Abolishes the ability to bind promoter of BMP target genes; when associated A-420; A-426; A-452; A-458; A-491; A-497; A-528; A-574 and A-581</li><li>F->A at 574: Abolishes the ability to bind promoter of BMP target genes; when associated A-420; A-426; A-452; A-458; A-491; A-497; A-528; A-534 and A-581</li><li>T->A at 581: Abolishes the ability to bind promoter of BMP target genes; when associated A-420; A-426; A-452; A-458; A-491; A-497; A-528; A-534 and A-574</li></ul>	<li>N->S at 629: in dbSNP:rs34214571</li>							P35855		rs34214571	3
Q2NKX8	54821	<ul><li>GKT->AAA at 127-129: Abolishes chromatin association</li><li>T->A at 1063: Induces a descrease in phosphorylation</li></ul>		phosphorylation	GO:0016310			chromatin	GO:0000785				1
Q38SD2	79705	<ul><li>K->A at 674: Loss of GTP/GDP-binding</li><li>K->G at 769: No effect on GTP-binding but reduction in subsequent stimulation of kinase activity</li><li>F->C at 1045: No effect on GTP-binding but loss of subsequent stimulation of kinase activity</li><li>K->W at 1293: Loss of autophosphorylation</li><li>I->T at 1435: No effect on GTP-binding but reduction in subsequent stimulation of kinase activity</li></ul>	<li>A->T at 1826</li><li>L->F at 1847</li><li>S->N at 1870</li><li>D->G at 1950</li>	autophosphorylation	GO:0046777	<li>kinase activity</li><li>GDP-binding</li><li>GTP-binding</li>	<li>GO:0016301</li><li>GO:0019003</li><li>GO:0005525</li>						3
Q3KR16	55200	<ul><li>N->A at 351: Loss of exchange activity</li></ul>	<li>A->T at 35: in dbSNP:rs740842</li>									rs740842	3
Q3V6T2	55704	<ul><li>S->A at 1417: Disrupts actin organization, cell migration and lamellipodia formation</li></ul>		cell migration	GO:0016477					<li>Q92192</li><li>Q92193</li><li>P53499</li><li>P26183</li><li>P53498</li><li>O13419</li><li>Q9P4D1</li><li>P48465</li><li>P53455</li><li>Q39596</li><li>Q39758</li><li>P26182</li><li>P80709</li><li>Q9UVX4</li><li>P78711</li><li>P53689</li><li>O17320</li><li>P30161</li><li>P17128</li><li>P45521</li><li>P81085</li><li>P20904</li><li>P45520</li><li>Q6TCF2</li><li>Q99023</li><li>Q75D00</li><li>P51775</li><li>P10365</li><li>P60011</li><li>P60010</li><li>Q8SWN8</li><li>O16808</li><li>P02577</li><li>P10989</li><li>P68555</li><li>Q05214</li><li>Q8X119</li><li>O65316</li><li>O65315</li><li>O65314</li><li>P53491</li><li>P91754</li><li>P13363</li><li>P11426</li><li>O81221</li><li>Q11212</li><li>P50138</li><li>P53477</li><li>P53476</li><li>P60009</li><li>P53502</li><li>Q2U7A3</li><li>P53500</li><li>Q9UVZ8</li><li>O00937</li><li>P14235</li><li>Q9UVF3</li><li>Q24733</li><li>P90689</li><li>P24902</li><li>O74258</li>			1
Q49MI3	375298	<ul><li>G->D at 260: Loss of nuclear localization; in isoform 2</li></ul>	<li>L->F at 232: in dbSNP:rs10185262</li><li>E->G at 514: in dbSNP:rs35955809</li>	localization	GO:0051179							<li>rs35955809</li><li>rs10185262</li>	3
Q4G0J3	51574	<ul><li>Y->D at 128: Loss of 7SK RNA-binding and marked decrease in 7SK RNP complex formation</li></ul>				RNA-binding	GO:0003723						1
Q4G163	286151	<ul><li>DS->AA at 75-76: Impairs ubiquitination and degradation in response to calcium</li><li>DS->AA at 333-334: Impairs ubiquitination and degradation in response to calcium</li></ul>											1
Q4J6C6	9581	<ul><li>H->A at 690: Loss of activity</li><li>H->A at 696: No effect</li></ul>											1
Q4U2R8	9356	<ul><li>L->A at 30: Complete loss of PAH transport activity</li><li>T->A at 36: Complete loss of PAH transport activity</li><li>N->Q at 39: Complete loss of PAH transport activity</li><li>Y->A at 230: Loss of membrane protein expression and little uptake of cidofovir</li><li>K->A at 431: Decrease in the level of membrane protein expression and 70 % loss of PAH uptake</li><li>F->A at 438: Decrease in the level of membrane protein expression, 70 % loss of PAH uptake, increased affinity for cidofovir, lower Vmax for PAH, and lower Km and Vmax for cidofovir</li></ul>	<li>L->P at 7</li><li>R->H at 50: lower Vmax; increase in substrate affinity and increase in the affinity for the nucleoside phosphonate analogs cidofovir, adefovir and tenofovir; dbSNP:rs11568626</li><li>P->L at 104: in dbSNP rsrs11568627</li><li>R->W at 293: increase in substrate affinity; dbSNP:rs45607933</li>	transport	GO:0006810					<li>Q04565</li><li>P17276</li><li>P16629</li><li>P24266</li><li>P30967</li><li>P90925</li><li>Q9A7V7</li><li>Q9KLB8</li><li>P43334</li><li>P00439</li><li>P04176</li><li>Q8XU39</li><li>P28991</li><li>Q98D72</li><li>P16331</li><li>Q07252</li>		<li>rs11568627</li><li>rs11568626</li><li>rs45607933</li>	3
Q504Q3	9924	<ul><li>D->A at 1087: Loss of exonuclease activity</li></ul>	<li>S->N at 32: in dbSNP:rs11558139</li><li>L->I at 179: in dbSNP:rs1918496</li><li>A->V at 1201: in a colorectal cancer sample; somatic mutation</li>							<li>P20321</li><li>P00638</li><li>P03697</li>		<li>rs11558139</li><li>rs1918496</li>	3
Q53ET0	200186	<ul><li>S->A at 70: No effect on cAMP- and calcium-regulated phosphorylation</li><li>S->A at 171: Loss of cAMP- and calcium-regulated phosphorylation. Greatly reduced interaction with 14-3-3 proteins</li><li>S->A at 368: Reduced cAMP- and calcium-regulated phosphorylation</li><li>S->A at 393: No effect on cAMP- and calcium-regulated phosphorylation</li></ul>	<li>M->V at 147: in dbSNP:rs11264680</li><li>R->C at 379</li>	phosphorylation	GO:0016310					O96436		rs11264680	3
Q53EZ4	55165	<ul><li>W->A at 184: Abolishes interaction with PDCD6IP</li><li>Y->A at 187: Abolishes interaction with PDCD6IP</li><li>D->A at 188: Diminishes interaction with PDCD6IP</li><li>R->A at 191: Abolishes interaction with PDCD6IP</li><li>E->A at 192: Abolishes interaction with PDCD6IP</li><li>S->A at 396: No effect on phosphorylation in mitotic cells</li><li>S->A at 425: Partial loss of phosphorylation in mitotic cells. Complete loss of phosphorylation in mitotic cells; when associated with A-428. Remains associated with the centrosome throughout mitosis; when associated with A-428. Arrests mitotic cells at the midbody stage; when associated with A-428 and A-436</li><li>S->A at 428: Partial loss of phosphorylation in mitotic cells. Complete loss of phosphorylation in mitotic cells; when associated with A-425. Remains associated with the centrosome throughout mitosis; when associated with A-425. Arrests mitotic cells at the midbody stage; when associated with A-425 and A-436</li><li>S->A at 436: No effect on phosphorylation in mitotic cells. Arrests mitotic cells at the midbody stage; when associated with A-425 and A-428</li></ul>	<li>H->Q at 57: in dbSNP:rs3740370</li><li>A->T at 99: in dbSNP:rs7080916</li><li>L->H at 378: in dbSNP:rs2293277</li>	<li>phosphorylation</li><li>mitosis</li>	<li>GO:0016310</li><li>GO:0007067</li>			<li>centrosome</li><li>midbody</li>	<li>GO:0005813</li><li>GO:0030496</li>	Q8WUM4		<li>rs7080916</li><li>rs2293277</li><li>rs3740370</li>	3
Q53GL0	51177	<ul><li>K->C at 42: No effect on subcellular localization. No effect on subcellular localization; when associated with C-44. Disruption of membrane localization, loss of phospholipid binding and impaired interaction with CK2; when associated with W-123. Disruption of membrane localization, loss of phospholipid binding and impaired interaction with CK2; when associated with C-44 and W-123</li><li>R->C at 44: No effect on subcellular localization. No effect on subcellular localization; when associated with C-42. Disruption of membrane localization, loss of phospholipid binding and impaired interaction with CK2; when associated with W-123. Disruption of membrane localization, loss of phospholipid binding and impaired interaction with CK2; when associated with C-42 and W-123</li><li>W->A at 123: Disruption of membrane localization and impaired interaction with CK2. Loss of phospholipid binding; when associated with C-42. Loss of phospholipid binding; when associated with C-44. Disruption of membrane localization, loss of phospholipid binding and impaired interaction with CK2; when associated with C-42 and C-44</li><li>R->A at 133: No effect on binding to capping proteins and loss of phospholipid binding; when associated with A-135 and A-137</li><li>R->E at 133: No effect on binding to capping proteins; when associated with E-135</li><li>K->A at 135: No effect on binding to capping proteins; when associated with A-133 and A-137</li><li>K->E at 135: No effect on binding to capping proteins; when associated with E-133</li><li>R->A at 137: No effect on binding to capping proteins; when associated with A-133 and A-135</li><li>R->A at 155: No change in cell morphology and actin cytoskeleton. Great loss of binding to capping proteins; when associated with A-157. Great loss of binding to capping proteins; when associated with A-157 and A-159</li><li>R->E at 155: No change in cell morphology and actin cytoskeleton. Great loss of binding to capping proteins and no change in cell morphology and actin cytoskeleton; when associated with E-157</li><li>R->A at 157: No change in cell morphology and actin cytoskeleton. Great loss of binding to capping proteins; when associated with A-155. Great loss of binding to capping proteins; when associated with A-155 and A-159</li><li>R->E at 157: No change in cell morphology and actin cytoskeleton. Great loss of binding to capping proteins and no change in cell morphology and actin cytoskeleton; when associated with E-155</li><li>K->A at 159: Great loss of binding to capping proteins; when associated with A-155 and A-157</li></ul>	<li>P->A at 21: in dbSNP:rs2306235</li>	localization	GO:0051179	<li>phospholipid binding</li><li>binding</li>	<li>GO:0005543</li><li>GO:0005488</li>	<li>membrane</li><li>cytoskeleton</li>	<li>GO:0016020</li><li>GO:0005856</li>	<li>Q92192</li><li>Q92193</li><li>P53499</li><li>P26183</li><li>P53498</li><li>O13419</li><li>Q9P4D1</li><li>P48465</li><li>P53455</li><li>Q39596</li><li>Q39758</li><li>P26182</li><li>P80709</li><li>P43893</li><li>Q9UVX4</li><li>P78711</li><li>P53689</li><li>O17320</li><li>P30161</li><li>P17128</li><li>P45521</li><li>P81085</li><li>P20904</li><li>P45520</li><li>Q6TCF2</li><li>Q99023</li><li>Q75D00</li><li>P51775</li><li>P10365</li><li>P60011</li><li>P60010</li><li>Q8SWN8</li><li>O16808</li><li>P02577</li><li>P10989</li><li>P68555</li><li>Q05214</li><li>Q8X119</li><li>O65316</li><li>O65315</li><li>O65314</li><li>P53491</li><li>P91754</li><li>P13363</li><li>P11426</li><li>O81221</li><li>Q11212</li><li>P50138</li><li>P53477</li><li>P53476</li><li>P60009</li><li>P53502</li><li>Q2U7A3</li><li>P53500</li><li>Q9UVZ8</li><li>O00937</li><li>P14235</li><li>Q9UVF3</li><li>Q24733</li><li>P90689</li><li>P24902</li><li>Q65ZV5</li><li>O51759</li><li>O74258</li>		rs2306235	3
Q53GQ0	51144	<ul><li>V->W at 196: No effect</li><li>F->A at 234: Allows the conversion of androstenedione to testosterone</li></ul>	<li>S->L at 280: in dbSNP:rs11555762</li>									rs11555762	3
Q53H47	6419	<ul><li>N->S at 210: Reduces activity in double strand break repair</li><li>D->S at 248: Reduces activity in double strand break repair</li><li>D->S at 490: Reduces activity in double strand break repair</li></ul>		double strand break repair	GO:0006302								1
Q53HL2	55143	<ul><li>S->A at 165: Results in reduction but not abolition of phosphorylation</li></ul>	<li>K->N at 12: in dbSNP:rs17851453</li>	phosphorylation	GO:0016310							rs17851453	3
Q53HV7	23583	<ul><li>N->A at 85: Markedly impaired the damage-excising activity for U/G, hoU/G, hmU/A and fU/A. No cytosine-excising activity for C/G, C/A, C/T and C/C</li><li>G->A,S at 87: Impaired the damage-excising activity for U/G, hoU/G, hmU/A and fU/A</li><li>G->F at 87: No damage-excising activity</li><li>F->A,G,S at 89: Did not impair the damage-excising activity for U/G, hoU/G, hmU/A and fU/A</li><li>G->A at 90: Lost the damage-excising activity for U/G and retained a weak but significant activity for hoU/G, hmU/A and fU/A</li><li>M->A at 91: Did not impair the damage-excising activity for U/G, hoU/G, hmU/A and fU/A</li><li>F->L at 98: Impaired the damage-excising activity for U/G, hoU/G, hmU/A and fU/A</li><li>N->D at 163: Impaired the damage-excising activity for U/G, hoU/G, hmU/A and fU/A. No cytosine-excising activity for C/G, C/A, C/T and C/C. hoC-excising activity for hoC/A, hoC/T and hoC/C</li><li>H->L,N at 239: Markedly impaired the damage-excising activity for U/G, hoU/G, hmU/A and fU/A</li></ul>	<li>G->V at 15: in dbSNP:rs2233920</li><li>R->W at 105: in dbSNP:rs3136389</li>									<li>rs2233920</li><li>rs3136389</li>	3
Q53RT3	151516	<ul><li>D->A,E at 212: Abolishes production of active form of enzyme</li></ul>	<li>T->A at 49: in dbSNP:rs3796097</li>									rs3796097	3
Q59H18	51086	<ul><li>K->R at 591: Loss of autophosphorylation activity</li></ul>	<li>D->H at 252</li><li>P->L at 364</li><li>F->L at 410</li><li>S->L at 531: in a colorectal adenocarcinoma sample; somatic mutation</li><li>V->L at 611</li><li>R->G at 730: in a colorectal cancer sample; somatic mutation</li><li>T->M at 738</li><li>I->T at 787</li><li>A->G at 886</li><li>M->I at 899: in a head & Neck squamous cell carcinoma sample; somatic mutation</li><li>D->Y at 934</li>	autophosphorylation	GO:0046777								3
Q5FVE4	81616	<ul><li>H->R at 511: Results in a shift of the pH optimum to a more acidic pH without affecting substrate specificity</li></ul>	<li>A->V at 143: in dbSNP:rs4807840</li><li>K->R at 152: in dbSNP:rs33937754</li><li>G->D at 584: in dbSNP:rs17851959</li><li>G->D at 586: in dbSNP:rs17851960</li><li>P->R at 601: in dbSNP:rs35609668</li><li>R->K at 624: in dbSNP:rs17856650</li><li>E->Q at 626: in dbSNP:rs17856651</li><li>R->S at 650: in dbSNP:rs35605352</li>									<li>rs33937754</li><li>rs4807840</li><li>rs35605352</li><li>rs35609668</li><li>rs17851960</li><li>rs17851959</li><li>rs17856650</li><li>rs17856651</li>	3
Q5FWF5	114799	<ul><li>C->G at 622: No effect on association with chromosomes</li></ul>	<li>N->S at 191: in dbSNP:rs35087820</li><li>T->M at 221: in dbSNP:rs13381941</li>					chromosomes	GO:0005694			<li>rs13381941</li><li>rs35087820</li>	3
Q5H9F3	63035	<ul><li>DL->AS at 623-624: Strongly reduced repressor activity. Interferes with CTBP1 binding</li></ul>	<li>G->S at 209: in dbSNP:rs5932715</li><li>G->D at 832: in a breast cancer sample; somatic mutation</li>			binding	GO:0005488			Q13363		rs5932715	3
Q5JRX3	10531	<ul><li>E->Q at 107: Loss of function</li><li>C->S at 119: Still active under oxidizing conditions</li></ul>	<li>Q->R at 8: in dbSNP:rs11818724</li><li>L->V at 145: in dbSNP:rs9423502</li><li>F->S at 169: in dbSNP:rs3814596</li><li>V->I at 328: in dbSNP:rs4242746</li><li>V->A at 397: in dbSNP:rs3182535</li><li>Q->H at 516: in dbSNP:rs3765101</li><li>V->I at 621: in dbSNP:rs2388556</li><li>I->M at 952: in dbSNP:rs2279219</li><li>V->I at 963: in dbSNP:rs17849904</li><li>P->L at 969: in dbSNP:rs2279218</li><li>R->Q at 1037: in dbSNP:rs6901</li>									<li>rs6901</li><li>rs4242746</li><li>rs11818724</li><li>rs3814596</li><li>rs2388556</li><li>rs3765101</li><li>rs9423502</li><li>rs2279218</li><li>rs2279219</li><li>rs17849904</li><li>rs3182535</li>	3
Q5KSL6	139189	<ul><li>Y->F at 78: Induces a strong reduction in phosphorylation but is still sensitive to H(2)O(2)</li><li>Y->F at 1075: Does not affect phosphorylation</li></ul>	<li>D->N at 1118: in dbSNP:rs4074320</li>	phosphorylation	GO:0016310							rs4074320	3
Q5MNZ9	55062	<ul><li>RR->AA at 226-227: Loss of binding to phosphoinositides, does not disrupt the MPR pathway</li></ul>	<li>T->I at 31: in dbSNP:rs883541</li><li>R->H at 308: in dbSNP:rs36084378</li>			binding	GO:0005488			O00264		<li>rs36084378</li><li>rs883541</li>	3
Q5SQ64	259215	<ul><li>Y->F at 281: No phosphorylation. No interaction with GRB2 and GRB7. No phosphorylation increase of p42/44 MAP kinase</li></ul>	<li>P->Q at 34: in dbSNP:rs17200983</li><li>P->S at 39: in dbSNP:rs805295</li><li>A->T at 107: in dbSNP:rs9267547</li><li>R->K at 167: in dbSNP:rs2242653</li>	phosphorylation	GO:0016310					<li>P62993</li><li>Q07883</li><li>Q5R4J7</li><li>P46672</li><li>Q9SB81</li><li>Q8NFH3</li><li>Q14451</li><li>Q1RMW5</li><li>Q27272</li>		<li>rs2242653</li><li>rs805295</li><li>rs9267547</li><li>rs17200983</li>	3
Q5SW96	26119	<ul><li>F->A at 165: Abolishes LDLR cytoplasmic tail binding</li><li>F->V at 165: Abolishes LDLR cytoplasmic tail binding</li><li>LL->AA at 212-213: Abolishes clathrin binding</li><li>D->A at 214: Abolishes clathrin binding</li><li>E->A at 216: Abolishes clathrin binding</li><li>R->A at 266: Abolishes AP-2 complex binding</li></ul>	<li>S->H at 202: in ARH; Lebanon; requires 2 nucleotide substitutions, MIM: 603813</li><li>S->P at 202: in dbSNP:rs6687605, MIM: 603813</li>			<li>binding</li><li>clathrin binding</li>	<li>GO:0005488</li><li>GO:0030276</li>			<li>Q5SW96</li><li>P05549</li><li>P01130</li><li>P34056</li><li>Q9N0N3</li><li>P01131</li><li>Q28832</li><li>P20063</li><li>P35950</li><li>P58197</li>	Autosomal recessive hypercholesterolemia (ARH) [MIM:603813]	rs6687605	3
Q5SXM2	6621	<ul><li>Q->A at 94: Abolishes SNAPC5 binding in the absence of SNAPC1. Minimal effect on SNAPC5 binding in the presence of SNAPC1</li><li>Q->L at 94: Abolishes SNAPC5 binding in the absence of SNAPC1. Minimal effect on SNAPC5 binding in the presence of SNAPC1</li><li>Q->L at 115: Abolishes SNAPC5 binding in the absence of SNAPC1. Minimal effect on SNAPC5 binding in the presence of SNAPC1</li><li>L->A at 1314: Abolishes SNAPC2-binding</li><li>L->A at 1355: Abolishes SNAPC2-binding</li><li>L->A at 1362: Abolishes SNAPC2-binding</li><li>L->A at 1364: Abolishes SNAPC2-binding</li><li>L->A at 1369: Decreased binding to SNAPC2</li></ul>	<li>H->Q at 799: in dbSNP:rs3812571</li><li>P->S at 1448: in dbSNP:rs3812561</li>			binding	GO:0005488			<li>Q16533</li><li>Q4R6W9</li><li>Q13487</li><li>O75971</li>		<li>rs3812561</li><li>rs3812571</li>	3
Q5T0N5	54874	<ul><li>MGD->IST at 441-443: Impairs interaction with CDC42 and reduces CDC42-induced actin assembly</li><li>W->K at 576: Impairs interaction with WASL and reduces CDC42-induced actin assembly</li></ul>								<li>Q92192</li><li>Q92193</li><li>P53499</li><li>P26183</li><li>P53498</li><li>O13419</li><li>Q9P4D1</li><li>P48465</li><li>P53455</li><li>Q39596</li><li>Q39758</li><li>P26182</li><li>P80709</li><li>Q9UVX4</li><li>P78711</li><li>P53689</li><li>O17320</li><li>P30161</li><li>Q17031</li><li>P17128</li><li>P45521</li><li>Q9HF56</li><li>P45520</li><li>P20904</li><li>P81085</li><li>Q6TCF2</li><li>Q99023</li><li>Q75D00</li><li>O00401</li><li>P51775</li><li>P10365</li><li>P60011</li><li>P60010</li><li>Q8SWN8</li><li>O16808</li><li>P02577</li><li>P10989</li><li>P68555</li><li>Q05214</li><li>Q8X119</li><li>O65316</li><li>O65315</li><li>O65314</li><li>P53491</li><li>P91754</li><li>P13363</li><li>P11426</li><li>P60953</li><li>P60952</li><li>O81221</li><li>Q11212</li><li>P50138</li><li>P53477</li><li>P53476</li><li>Q90694</li><li>O94103</li><li>P60009</li><li>P53502</li><li>Q2U7A3</li><li>P53500</li><li>Q9UVZ8</li><li>O00937</li><li>P14235</li><li>Q9UVF3</li><li>O14426</li><li>Q24733</li><li>P90689</li><li>P24902</li><li>O74258</li><li>P19073</li><li>Q95107</li>			1
Q5T230	8433	<ul><li>L->P at 296: Abolishes coactivation activity; when associated with P-303</li><li>L->P at 303: Abolishes coactivation activity; when associated with P-296</li></ul>	<li>G->R at 73: in dbSNP:rs11599284</li>									rs11599284	3
Q5T2T1	143098	<ul><li>L->S at 38: Abolishes interaction with DLG1</li><li>L->S at 95: Does not affect the interaction with DLG1</li></ul>	<li>K->R at 322: in dbSNP:rs2997211</li>							Q12959		rs2997211	3
Q5T5U3	57584	<ul><li>Y->A at 999: Altered interaction with ARF1 and loss of association to membranes</li><li>I->A at 1053: Altered interaction with ARF1 and loss of association to membranes</li><li>R->A at 1183: Loss of GTPase activity and loss of function</li></ul>	<li>N->S at 712: in dbSNP:rs3748222</li><li>T->A at 1593: in dbSNP:rs1133897</li><li>V->A at 1610: in dbSNP:rs1143051</li><li>E->K at 1628: in dbSNP:rs1143057</li><li>A->T at 1726: in dbSNP:rs1143075</li><li>S->N at 1949: in dbSNP:rs1127893</li>			GTPase activity	GO:0003924	membranes	GO:0016020	<li>Q8L7G0</li><li>P84080</li><li>P36397</li><li>Q94650</li><li>P22274</li><li>P11076</li><li>P49076</li><li>P61210</li><li>O23778</li><li>O48649</li><li>Q96361</li><li>Q75A26</li><li>P61209</li><li>Q25761</li><li>P51821</li><li>P84077</li><li>P51822</li><li>Q4R5P2</li>		<li>rs1127893</li><li>rs3748222</li><li>rs1133897</li><li>rs1143075</li><li>rs1143057</li><li>rs1143051</li>	3
Q5T6X5	222545	<ul><li>S->A at 149: Loss of function</li><li>T->A at 172: Loss of function</li></ul>	<li>P->S at 91: in dbSNP:rs2274911</li><li>I->R at 144: in dbSNP:rs28360548</li>									<li>rs28360548</li><li>rs2274911</li>	3
Q5TA45	54973	<ul><li>E->Q at 203: Abolishes the ability of the Integrator complex to process U1 and U2 snRNA genes</li></ul>											1
Q5TCZ1	9644	<ul><li>R->A at 42: Loss of binding to (PtdIns(3)P) and (PtdIns(3,4)P2)</li><li>R->A at 93: Loss of binding to (PtdIns(3)P) and (PtdIns(3,4)P2)</li></ul>	<li>K->Q at 659: in dbSNP:rs11818820</li><li>R->Q at 1035: in dbSNP:rs3781365</li>			binding	GO:0005488					<li>rs3781365</li><li>rs11818820</li>	3
Q5U5Q3	51320	<ul><li>G->D at 343: Prevents RNA binding</li></ul>	<li>T->P at 412: in dbSNP:rs12970605</li>			RNA binding	GO:0003723					rs12970605	3
Q5VT06	9857	<ul><li>LL->AA at 762-763: Abolishes recruitment of PPARA to specific nuclear foci. No effect on interaction with PPARA (in vitro)</li></ul>	<li>E->Q at 945: in dbSNP:rs2477120</li><li>T->A at 1445: in dbSNP:rs16855164</li>							<li>O35507</li><li>Q95N78</li><li>Q8HYL6</li><li>Q07869</li>		<li>rs16855164</li><li>rs2477120</li>	3
Q5VT25	8476	<ul><li>K->A at 106: Loss of kinase activity</li><li>S->L at 222: Increase in autophosphorylation but not kinase activity</li><li>S->A at 234: Loss of autophosphorylation and kinase activity</li><li>T->A at 240: Loss of autophosphorylation and kinase activity</li><li>T->A at 403: Loss of autophosphorylation and kinase activity</li><li>H->A at 1579: Loss of CDC42 binding; when associated with A-1582</li><li>H->A at 1582: Loss of CDC42 binding; when associated with A-1579</li></ul>	<li>E->K at 50: in a lung neuroendocrine carcinoma sample; somatic mutation</li><li>T->M at 231: in dbSNP rsrs34614709</li><li>I->T at 537: in dbSNP rsrs56364976</li><li>T->M at 780: in dbSNP:rs56119119</li><li>Y->C at 790: in dbSNP:rs34943764</li><li>A->T at 1148</li><li>R->H at 1211</li><li>V->I at 1317</li><li>I->K at 1418: in dbSNP rsrs56229267</li><li>A->V at 1469: in dbSNP:rs55687355</li><li>T->A at 1618</li><li>A->V at 1699: in dbSNP:rs2802269</li>	autophosphorylation	GO:0046777	<li>kinase activity</li><li>binding</li>	<li>GO:0016301</li><li>GO:0005488</li>			<li>O94103</li><li>Q90694</li><li>O14426</li><li>P60953</li><li>P60952</li><li>Q17031</li><li>Q9HF56</li><li>P19073</li>		<li>rs34614709</li><li>rs34943764</li><li>rs2802269</li><li>rs56364976</li><li>rs55687355</li><li>rs56229267</li><li>rs56119119</li>	3
Q5VTD9	8328	<ul><li>N->S at 290: Prevents DNA-binding</li></ul>	<li>R->H at 231: in a colorectal cancer sample; somatic mutation</li>			DNA-binding	GO:0003677						3
Q5VWG9	83860	<ul><li>W->R at 23: Loss of interaction with TAF10</li></ul>	<li>S->T at 349: in dbSNP:rs17366712</li><li>N->S at 442: in dbSNP:rs4747647</li><li>V->L at 598: in dbSNP:rs17366712</li><li>V->A at 696: in dbSNP:rs1244229</li><li>V->L at 696: in dbSNP:rs10795583</li><li>R->S at 927: in dbSNP:rs10795583</li>							<li>Q12962</li><li>Q12030</li>		<li>rs10795583</li><li>rs4747647</li><li>rs1244229</li><li>rs17366712</li>	3
Q5VWQ8	153090	<ul><li>KKK->AAA at 228-230: No effect on binding to MAP3K5</li><li>KKKK->AAAA at 281-284: Significantly reduced binding to MAP3K5</li><li>R->L at 413: No effect on binding to MAP3K5</li></ul>				binding	GO:0005488			Q99683			1
Q63HR2	23371	<ul><li>C->S at 231: Abolishes inhibition of AKT1 kinase activity</li></ul>	<li>S->T at 353: in dnSNP:rs11170389</li><li>A->T at 670: in dbSNP:rs11558984</li>							P31750		<li>rs11170389</li><li>rs11558984</li>	3
Q66K89	1877	<ul><li>C->S at 194: Increases DNA-binding; when associated with S-197</li><li>C->S at 197: Increases DNA-binding; when associated with S-194</li><li>H->A at 210: Alters DNA-binding</li><li>R->L at 237: Alters DNA-binding; when associated with N-238</li><li>H->N at 238: Alters DNA-binding; when associated with L-237</li><li>K->M at 249: Alters DNA-binding; when associated with S-250</li><li>C->S at 250: Alters DNA-binding; when associated with M-249</li></ul>				DNA-binding	GO:0003677						1
Q684P5	23108	<ul><li>S->A at 7: Abolishes phosphorylation by PKG/PRKG1</li><li>N->A at 357: Abolishes GAP activity</li></ul>	<li>L->M at 202: in dbSNP:rs17762452</li>	phosphorylation	GO:0016310	PKG	GO:0004692			<li>P20936</li><li>P21136</li><li>Q92211</li><li>P00516</li><li>Q13976</li><li>Q92263</li><li>P09851</li><li>Q5PEA9</li><li>O77676</li><li>P74873</li><li>P14619</li><li>P74851</li><li>P50904</li>		rs17762452	3
Q68CJ9	84699	<ul><li>R->A at 361: Decreases proteolytic cleaveage upon ER stress</li></ul>						ER	GO:0005783				1
Q68EM7	55114	<ul><li>R->A at 288: Loss of function; leading to defects in tight junction maintenance</li></ul>						tight junction	GO:0005923				1
Q69383		<ul><li>SEM->AAA at 4-6: No loss of function</li><li>RRR->AAA at 13-15: Total loss of function and dominant negative effect</li><li>R->A at 13: Total loss of function and dominant negative effect; when associated with A-14; A-16; A-18 and A-20</li><li>R->A at 14: Total loss of function and dominant negative effect; when associated with A-13; A-16; A-18 and A-20</li><li>R->A at 16: Total loss of function and dominant negative effect; when associated with A-13; A-14; A-18 and A-20</li><li>R->A at 18: Total loss of function and dominant negative effect; when associated with A-13; A-14; A-16 and A-20</li><li>NR->AA at 19-20: No loss of function</li><li>R->A at 20: Total loss of function and dominant negative effect; when associated with A-13; A-14; A-16 and A-18</li><li>MVT->AAA at 30-32: Total loss of function and dominant negative effect</li><li>MKL->AAA at 37-39: Total loss of function and dominant negative effect</li><li>TKK->AAA at 42-44: Total loss of function and dominant negative effect</li><li>PTW->AAA at 48-50: Total loss of function and dominant negative effect</li><li>LKK->AAA at 53-55: Total loss of function and dominant negative effect</li><li>L->A at 53: Exclusive nuclear localization; when associated with A-56 and A-59</li><li>L->A at 56: Exclusive nuclear localization; when associated with A-53 and A-59</li><li>LAT->AAA at 59-61: Partial loss of function</li><li>L->A at 59: Exclusive nuclear localization; when associated with A-53 and A-56</li><li>NTK->AAA at 66-68: Total loss of function and dominant negative effect</li><li>MLL->AAA at 76-78: Total loss of function and dominant negative effect</li><li>MIV->AAA at 82-84: Total loss of function and dominant negative effect</li><li>MVS->AAA at 86-88: Partial loss of function</li><li>NSS->AAA at 93-95: No loss of function</li></ul>		localization	GO:0051179								1
Q69YH5	157313	<ul><li>VTF->ATA at 394-396: Abolishes interaction with PPP1CC but not subcellular location</li></ul>	<li>I->V at 718: in dbSNP:rs4872318</li><li>R->S at 885: in dbSNP:rs3829009</li>							<li>P36873</li><li>P61287</li><li>Q8MJ46</li>		<li>rs4872318</li><li>rs3829009</li>	3
Q6DJT9	5324	<ul><li>RK->AA at 23-24: Inhibition of KPNA2 interaction when mutation occurs in the NLS; decreased nuclear import with localization in the nucleus but also in the cytoplasm; Complete inhibition of nuclear import When associated with a lack of zinc-finger domains</li><li>RK->AA at 31-32: No inhibition of KPNA2 interaction and no change in nuclear import</li><li>H->A at 92: Prevents formation of functional zinc-finger 3; induces drastic decrease of DNA affinity and complete modification of DNA binding specificity</li><li>H->A at 227: Prevents formation of functional zinc-finger 7 and inhibits DNA binding; No proliferation and transformation of cultured cells</li><li>K->R at 244: Abolishes single and double sumoylation; nuclear localization conserved. Increases transcriptional activity and inhibits repression domain activity; when associated with R-263 and R-353</li><li>K->R at 263: Decreases sumoylation; Abolishes double sumoylation only; Nuclear localization conserved. Increases transcriptional activity and inhibits repression domain activity; when associated with R-244 and R-353</li><li>T->A at 339: No effect on transcription activation capacity</li><li>S->A at 340: No effect on transcription activation capacity</li><li>K->R at 353: No effect on sumoylation. Increases transcriptional activity and inhibits repression domain activity; when associated with R-244 and R-263</li></ul>	<li>P->T at 458: in dbSNP:rs35883156</li>	<li>nuclear import</li><li>sumoylation</li><li>localization</li><li>transcription</li>	<li>GO:0051170</li><li>GO:0016925</li><li>GO:0051179</li><li>GO:0006350</li>	DNA binding	GO:0003677	<li>cytoplasm</li><li>nucleus</li>	<li>GO:0005737</li><li>GO:0005634</li>	P52292		rs35883156	3
Q6DN72	343413	<ul><li>Y->F at 356: No change of phosphorylation implicated in interaction with PTPN11</li><li>Y->F at 371: Loss of phosphorylation implicated in interaction with PTPN11</li></ul>	<li>S->G at 427: in dbSNP:rs4443889</li>	phosphorylation	GO:0016310					<li>Q06124</li><li>Q90687</li>		rs4443889	3
Q6FI13	723790	<ul><li>S->A at 2: Blocks the inhibition of transcription by RPS6KA5/MSK1</li></ul>		transcription	GO:0006350					<li>P32048</li><li>Q5F3L1</li><li>Q5R4K3</li><li>O75582</li>			1
Q6GQQ9	56957	<ul><li>C->A at 194: Increased ability to interact with polyubiquitin</li><li>C->S at 194: Loss of deubiquitinating activity</li></ul>											1
Q6GTX8	3903	<ul><li>Y->F at 251: Reduced tyrosine phosphorylation and loss of binding to PTPN6 and CSK as well as complete loss of inhibitory activity. Loss of phosphorylation and of inhibition of calcium mobilization; when associated with F-281</li><li>Y->F at 281: Reduced tyrosine phosphorylation and loss of binding to PTPN6. Partial inhibition of cytotoxic activity</li></ul>	<li>E->D at 63: in dbSNP:rs3745442</li>	<li>phosphorylation</li><li>calcium mobilization</li>	<li>GO:0016310</li><li>GO:0051209</li>	binding	GO:0005488			<li>P29350</li><li>P41239</li><li>Q0VBZ0</li><li>P41240</li>		rs3745442	3
Q6IA69	55191	<ul><li>C->S at 175: Eliminates glutamine-dependent NAD synthetase activity with the ammonia-dependent activity intact</li></ul>	<li>V->L at 74: in dbSNP:rs2276360</li>									rs2276360	3
Q6IQ20	222236	<ul><li>S->A at 152: Almost no change in activity: in dbSNP rsrs12540583</li><li>L->F at 207: Loss of activity: in dbSNP rsrs1861727</li><li>H->R at 380: Loss of activity: in dbSNP rsrs3181008</li><li>D->N at 389: Almost no change in activity: in dbSNP rsrs3181009</li></ul>	<li>S->A at 152: in dbSNP:rs12540583</li><ul><li>S->A at 152: Almost no change in activity</li></ul><li>D->N at 389: in dbSNP:rs3181009</li><ul><li>D->N at 389: Almost no change in activity</li></ul>									<li>rs3181008</li><li>rs3181009</li><li>rs12540583</li><li>rs1861727</li>	4
Q6NS38	121642	<ul><li>D->A at 173: Loss of activity</li><li>H->A at 236: Reduced activity</li></ul>	<li>R->H at 203: in dbSNP:rs33962311</li>									rs33962311	3
Q6NUP7	57718	<ul><li>R->W at 501: Abolishes interaction with PPP4C</li><li>V->A at 618: Diminishes interaction with PPP4C</li><li>V->D at 618: Abolishes interaction with PPP4C</li></ul>								<li>P11084</li><li>P60510</li>			1
Q6NYC1	23210	<ul><li>H->A at 187: Loss of catalytic activity; when associated with A-189 and A-273</li><li>D->A at 189: Loss of catalytic activity; when associated with A-187 and A-273</li><li>H->A at 273: Loss of catalytic activity; when associated with A-187 and A-189</li></ul>				catalytic activity	GO:0003824						1
Q6NYC8	170954	<ul><li>I->G at 540: Decrease binding to PP1. Complete inhibition of PP1 binding; when associated with G-542</li><li>F->G at 542: Decrease binding to PP1. Decrease binding to PP1. Complete inhibition of PP1 binding; when associated with G-540</li></ul>	<li>R->G at 222: in dbSNP:rs9262144</li><li>G->R at 339: in dbSNP:rs9262143</li><li>P->L at 356: in dbSNP:rs2213944</li>			binding	GO:0005488			<li>P48488</li><li>P80074</li><li>Q63447</li><li>P30366</li><li>P50391</li><li>Q61041</li><li>P48487</li><li>P22198</li>		<li>rs2213944</li><li>rs9262144</li><li>rs9262143</li>	3
Q6P5Z2	29941	<ul><li>K->E at 588: Abolishes autophosphorylation and catalytic activity</li><li>K->R at 588: Abolishes catalytic activity</li><li>T->A at 718: Abolishes phosphorylation</li></ul>	<li>A->E at 180: in dbSNP rsrs56251280</li><li>V->L at 404: in dbSNP:rs12932</li>	<li>phosphorylation</li><li>autophosphorylation</li>	<li>GO:0016310</li><li>GO:0046777</li>	catalytic activity	GO:0003824					<li>rs56251280</li><li>rs12932</li>	3
Q6PHW0	389434	<ul><li>R->A at 101: Strongly reduces activity</li><li>R->H at 101: Reduces activity</li><li>F->A at 105: Activity as the wild type</li><li>F->Y at 105: Activity as the wild type</li><li>I->V at 116: Activity as the wild type</li></ul>	<li>R->W at 101: in CHDH4; strongly reduces activity; does not respond to the increase of flavin mononucleotide concentration, MIM: 274800</li><ul><li>R->A at 101: Strongly reduces activity</li><li>R->H at 101: Reduces activity</li></ul><li>FI->L at 105-106: in CHDH4; strongly reduces activity; does not respond to the increase of flavin mononucleotide concentration, MIM: 274800</li></ul><li>I->T at 116: in CHDH4; strongly reduces activity; marginally respond to the increase of flavin mononucleotide concentration; reduces protein stability, MIM: 274800</li><ul><li>I->V at 116: Activity as the wild type</li></ul><li>L->P at 260: in dbSNP:rs17854906, MIM: 274800</li></ul><li>E->K at 271: in dbSNP:rs36063028, MIM: 274800</li></ul>								Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:274800]	<li>rs17854906</li><li>rs36063028</li>	4
Q6PIZ9	50852	<ul><li>Y->F at 79: Abolishes interaction with PIK3R1</li></ul>								<li>P27986</li><li>P23727</li>			1
Q6PJP8	9937	<ul><li>D->N at 838: Impaired nuclear focus formation, reduced interaction with PIAS and increased sensitivity to cisplatin</li><li>H->A at 994: Impaired nuclear focus formation, reduced interaction with PIAS and increased sensitivity to cisplatin</li></ul>	<li>K->E at 58: in dbSNP:rs17235066</li><li>E->D at 59: in dbSNP:rs17228665</li><li>G->D at 71: in dbSNP:rs17228672</li><li>P->L at 287: in dbSNP:rs17235094</li><li>H->D at 317: in dbSNP:rs3750898</li><li>G->W at 582: in dbSNP:rs17855759</li><li>I->F at 859: in dbSNP:rs11196530</li>									<li>rs11196530</li><li>rs17855759</li><li>rs17235066</li><li>rs17235094</li><li>rs17228665</li><li>rs17228672</li><li>rs3750898</li>	3
Q6PL18	29028	<ul><li>K->T at 473: Reduces the ability to mediate estradiol-dependent induction of CCND1 and E2F1; when associated with Q-532</li><li>E->Q at 532: Reduces the ability to mediate estradiol-dependent induction of CCND1 and E2F1; when associated with T-473</li></ul>	<li>I->T at 1280: in dbSNP:rs3758122</li>							<li>P55169</li><li>P24385</li><li>Q01094</li><li>Q2KI22</li><li>Q5R6J5</li><li>Q90977</li><li>Q64HP0</li><li>Q27368</li>		rs3758122	3
Q6QN14	391622	<ul><li>C->S at 89: Abolishes enzymatic activity</li></ul>											1
Q6R6M4	377630	<ul><li>C->S at 89: Abolishes both enzymatic activity and effects on cell proliferation</li></ul>		cell proliferation	GO:0008283								1
Q6RSH7	391104	<ul><li>NFRS->SYRG at 93-96: Preferentially binds to a hydroxylated ODD peptide</li></ul>								Q8TAX0			1
Q6S5L8	399694	<ul><li>R->Q at 315: Phosphorylation is markedly decreased. Completely reduces the phosphorylation and interaction with MUSK; when associated with K-549</li><li>YY->F at 374-375: Remains phosphorylated. Contains a residual phosphorylation; when associated with F-465. Retains the ability to bind MUSK. Reduced the phosphorylation in presence of MUSK; when associated with F-424 and F-465. Completely abolishes the phosphorylation in presence of MUSK; when associated with F-403; F-413; F-424 and F-465. Retains the ability to bind MUSK; when associated with F-465. Retains the ability to bind MUSK; when associated with F-424 and F-465. Retains the ability to bind MUSK; when associated with F-403; F-413; F-424 and F-465</li><li>Y->F at 403: Completely abolishes the phosphorylation in presence of MUSK; when associated with 374-F-F-375; F-413; F-424 and F-465</li><li>Y->F at 413: Completely abolishes the phosphorylation in presence of MUSK; when associated with 374-F-F-375; F-403; F-424 and F-465</li><li>Y->F at 424: Significantly decreased GRB2 interaction. Reduced the phosphorylation in presence of MUSK; when associated with 374-F-F-375 and F-465. Completely abolishes the phosphorylation in presence of MUSK; when associated with 374-F-F-375; F-403; F-413 and F-465</li><li>Y->F at 465: Remains phosphorylated. Contains a residual phosphorylation; when associated with 374-F-F-375. Reduced the phosphorylation in presence of MUSK; when associated with 374-F-F-375 and 424. Completely abolishes the phosphorylation in presence of MUSK; when associated with 374-F-F-375; F-403; F-413 and F-424. Retains the ability to bind MUSK. Retains the ability to bind MUSK; when associated with 374-F-F-375. Retains the ability to bind MUSK; when associated with 374-F-F-375 and F-424. Retains the ability to bind MUSK; when associated with 374-F-F-375; F-403; F-413 and F-424</li><li>R->K at 549: Completely reduces the phosphorylation and interaction with MUSK; when associated with Q-315</li></ul>	<li>N->D at 52: in dbSNP:rs17856991</li><li>K->E at 244: in dbSNP:rs17856990</li><li>Q->H at 400: in dbSNP:rs16961728</li><li>D->G at 447: in dbSNP:rs17856992</li>	Phosphorylation	GO:0016310					<li>P62993</li><li>Q07883</li><li>Q5R4J7</li><li>Q8AXY6</li><li>O15146</li>		<li>rs17856992</li><li>rs17856990</li><li>rs17856991</li><li>rs16961728</li>	3
Q6UUV7	64784	<ul><li>Y->F at 282: Translocates to the cytoplasm. Represses basal TORC3 activity towards CREB</li></ul>	<li>S->N at 72: in dbSNP:rs8033595</li><li>L->S at 346</li>					cytoplasm	GO:0005737	<li>P15337</li><li>P51984</li><li>P51985</li><li>P27925</li><li>Q01147</li><li>P16220</li>		rs8033595	3
Q6UWE0	90678	<ul><li>Missing at 649-664: Abolishes interaction with TSG101</li><li>C->A at 675: Abolishes ubiquitination of TSG101</li><li>H->A at 692: Abolishes ubiquitination of TSG101</li></ul>	<li>N->D at 318: in dbSNP:rs1539567</li>							Q99816		rs1539567	3
Q6UWP7	253558	<ul><li>D->C at 206: Abolishes LPIAT and LPGAT activities</li><li>D->R at 206: Does not increase enzyme activity</li><li>L->T at 207: Abolishes LPIAT activity. No effect on LPGAT activity</li></ul>	<li>I->V at 290: in dbSNP:rs12471868</li>									rs12471868	3
Q6UWV6	339221	<ul><li>S->F at 76: Loss of activity</li><li>C->N at 78: Strongly reduces activity</li><li>N->Q at 100: Strongly reduces N-glycosylation and enzyme activity; when associated with Q-121; Q-146; Q-168 and Q-267</li><li>N->Q at 121: Strongly reduces N-glycosylation and enzyme activity; when associated with Q-100; Q-146; Q-168 and Q-267</li><li>N->Q at 146: Strongly reduces N-glycosylation and enzyme activity; when associated with Q-100; Q-146; Q-168 and Q-267</li><li>N->Q at 168: Strongly reduces N-glycosylation and enzyme activity; when associated with Q-100; Q-121; Q-168 and Q-267</li><li>N->Q at 267: Strongly reduces N-glycosylation and enzyme activity; when associated with Q-100; Q-121; Q-146 and Q-168</li><li>H->A at 353: Loss of activity</li></ul>	<li>L->P at 4: in dbSNP:rs8074547</li>									rs8074547	3
Q6UX06	10562	<ul><li>C->A at 83: Abolishes secretion. No effect on multimer frmation</li><li>C->A at 85: Abolishes secretion. No effect on multimer frmation</li><li>C->A at 226: No effect on secretion. Affects multimer formation</li><li>C->A at 246: Abolishes secretion. No effect on multimer frmation</li><li>C->A at 437: Abolishes secretion. No effect on multimer frmation</li></ul>	<li>S->P at 36: in dbSNP:rs35790097</li>	secretion	GO:0046903							rs35790097	3
Q6UXB2	284340	<ul><li>C->S at 50: Inhibits migration of nonactivated dendritic cells and monocytes; when associated with S-52; S-75; S-77; S-103 and S-110</li><li>C->S at 52: Inhibits migration of nonactivated dendritic cells and monocytes; when associated with S-50; S-75; S-77; S-103 and S-110</li><li>C->S at 75: Inhibits migration of nonactivated dendritic cells and monocytes; when associated with S-50; S-52; S-77; S-103 and S-110</li><li>C->S at 77: Inhibits migration of nonactivated dendritic cells and monocytes; when associated with S-50; S-52; S-75; S-103 and S-110</li><li>C->S at 103: Inhibits migration of nonactivated dendritic cells and monocytes; when associated with S-50; S-52; S-75; S-77 and S-110</li><li>C->S at 110: Inhibits migration of nonactivated dendritic cells and monocytes; when associated with S-50; S-52; S-75; S-77 and S-103</li></ul>											1
Q6V1X1	54878	<ul><li>E->K at 275: 13-fold reduction in affinity for Ala-Pro-AFC; no effect on subcellular location</li><li>S->A at 755: Abolishes activity; no effect on subcellular location</li><li>D->A at 833: Abolishes activity; no effect on subcellular location</li><li>H->A at 865: Abolishes activity; no effect on subcellular location</li></ul>											1
Q6VMQ6	55729	<ul><li>D->A at 968: Abolishes the interaction with SUMO</li><li>L->A at 969: Abolishes the interaction with SUMO</li><li>L->R at 1224: Abolishes interaction with MBD1 and subsequent transcriptional repression</li></ul>	<li>E->K at 278: in dbSNP:rs2231908</li><li>N->I at 348: in dbSNP:rs2231909</li><li>R->K at 530: in dbSNP:rs3213764</li>							P56386		<li>rs2231909</li><li>rs2231908</li><li>rs3213764</li>	3
Q6WKZ4	80223	<ul><li>Y->F at 1254: Does not abolish the interaction with RAB11A, homooligomerization and subcellular location. Reduces the interaction with RAB4A</li><li>I->E at 1255: Abolishes the interaction with RAB11A and RAB4A, homooligomerization and subcellular location</li><li>D->N at 1256: Does not abolish the interaction with RAB11A, homooligomerization and subcellular location. Reduces the interaction with RAB4A</li></ul>	<li>M->T at 1185: in dbSNP:rs7817179</li>							<li>Q40523</li><li>Q2TA29</li><li>Q5R9M7</li><li>P20338</li><li>P62490</li><li>Q40191</li><li>Q2TBH7</li><li>Q52NJ1</li><li>P62491</li><li>Q96283</li><li>P62493</li><li>Q5ZJN2</li>		rs7817179	3
Q6XPS3	93492	<ul><li>C->S at 320: Loss of activity</li></ul>	<li>V->I at 367: in dbSNP:rs2497218</li>									rs2497218	3
Q6XUX3	25778	<ul><li>K->Q at 681: No change</li></ul>											1
Q6XZB0	149998	<ul><li>S->A at 159: No activity</li></ul>	<li>C->Y at 55: associated with familial hypertriglyceridemia; rare mutation</li><li>G->E at 364</li><li>E->K at 431</li><li>D->E at 444</li>										3
Q6Y288	145173	<ul><li>Missing at 495-498: Abolishes endoplasmic reticulum localization</li></ul>	<li>E->K at 370: in dbSNP:rs1041073</li>	localization	GO:0051179			endoplasmic reticulum	GO:0005783			rs1041073	3
Q6ZMC9	284266	<ul><li>R->A at 143: Abrogates glycan-binding</li><li>K->A at 274: Abrogates interaction with HCST and TYROBP</li></ul>	<li>F->L at 273: in dbSNP:rs2919643</li>			binding	GO:0005488			<li>Q95J79</li><li>Q9TU45</li><li>Q8WNQ8</li><li>O43914</li>		rs2919643	3
Q6ZN04	84206	<ul><li>G->D at 177: Prevents RNA binding</li></ul>				RNA binding	GO:0003723						1
Q712K3	54926	<ul><li>C->S at 93: Loss of function</li><li>L->S at 97: Loss of function</li><li>S->A at 233: Abolishes phosphorylation by CK2</li></ul>		phosphorylation	GO:0016310					<li>Q65ZV5</li><li>P43893</li><li>O51759</li>			1
Q71F23	79682	<ul><li>S->A at 77: Insensitive to PLK1-induced degradation</li><li>T->A at 78: Insensitive to PLK1-induced degradation</li><li>T->D at 78: Failed to enhance the PLK1-dependent degradation</li><li>T->E at 78: Failed to enhance the PLK1-dependent degradation</li></ul>	<li>G->R at 16: in dbSNP:rs902174</li><li>G->S at 16: in dbSNP:rs902174</li><li>I->T at 157: in dbSNP:rs6552804</li><li>I->M at 214: in dbSNP:rs4616798</li><li>A->T at 279: in dbSNP:rs34007339</li>							P53350		<li>rs6552804</li><li>rs34007339</li><li>rs4616798</li><li>rs902174</li>	3
Q71SY5	81857	<ul><li>L->A at 646: Abrogates interaction with RARA</li><li>LL->AA at 649-650: Abrogates interaction with RARA</li></ul>								<li>Q9W5Z3</li><li>P18514</li><li>Q90966</li><li>P10276</li><li>Q5FBR4</li>			1
Q76I76	85464	<ul><li>C->S at 392: Abrogates phosphatase activity</li></ul>	<li>S->L at 743: in dbSNP:rs2289629</li><li>V->A at 763: in dbSNP:rs6505140</li><li>H->Q at 1300: in dbSNP:rs8080046</li>							<li>Q7M7K5</li><li>Q5X1E5</li><li>Q7MAZ9</li><li>Q8XBL4</li><li>Q7MBF4</li><li>Q5P3T0</li><li>Q88A53</li><li>Q5PC82</li><li>Q8Z3M9</li><li>Q821A6</li><li>Q5ZRX9</li><li>Q87SK9</li><li>Q9JZ88</li><li>Q9CP21</li><li>Q82U82</li><li>Q9I5V3</li><li>Q5F8K9</li><li>Q63YC3</li><li>Q8Y395</li><li>Q6LV05</li><li>Q8ZLY4</li><li>Q6FA38</li><li>Q9PDL7</li><li>Q62EU1</li><li>Q9JUB2</li><li>Q5WT58</li><li>Q665U9</li><li>Q57JQ5</li><li>Q9KPC6</li><li>Q8CWL6</li><li>Q8P5D4</li><li>Q8PPG9</li><li>P06961</li><li>P45269</li><li>Q88QU2</li><li>Q9L7A3</li><li>Q6D160</li><li>Q87DS9</li><li>Q60CQ4</li><li>Q8ZI64</li><li>Q65Q41</li><li>Q5E2K7</li><li>Q8CXX6</li>		<li>rs8080046</li><li>rs2289629</li><li>rs6505140</li>	3
Q76LX8	11093	<ul><li>R->K at 71: Abolishes pro-domain removal but no loss of proteolytic activity; when associated with D-73</li><li>R->D at 73: Abolishes pro-domain removal but no loss of proteolytic activity; when associated with K-71</li></ul>	<li>R->W at 7: does not affect protein secretion; dbSNP:rs34024143</li><li>V->M at 88: in TTP; reduces protein secretion and proteolytic activity, MIM: 274150</li><li>H->D at 96: in TTP, MIM: 274150</li><li>R->C at 102: in TTP, MIM: 274150</li><li>R->W at 193: in TTP; low activity, MIM: 274150</li><li>T->I at 196: in TTP, MIM: 274150</li><li>H->Q at 234: in TTP, MIM: 274150</li><li>A->V at 250: in TTP; mild effect on protein secretion; strong reduction of proteolytic activity, MIM: 274150</li><li>R->P at 268: in TTP; affects protein secretion, MIM: 274150</li><li>W->C at 390: in TTP, MIM: 274150</li><li>R->H at 398: in TTP, MIM: 274150</li><li>Q->E at 448: does not affect protein secretion; normal proteolytic activity; dbSNP:rs2301612, MIM: 274150</li><li>Q->H at 456: in dbSNP:rs36220239, MIM: 274150</li><li>P->L at 457: in dbSNP rsrs36220240, MIM: 274150</li><li>P->S at 475: may be a risk factor for thrombotic disorders; does not affect protein secretion; low proteolytic activity: in dbSNP rsrs11575933, MIM: 274150</li><li>C->Y at 508: in TTP; impairs protein secretion, MIM: 274150</li><li>R->G at 528: in TTP, MIM: 274150</li><li>P->A at 618: affects protein secretion and proteolytic activity: in dbSNP rsrs28647808, MIM: 274150</li><li>R->H at 625: in dbSNP:rs36090624, MIM: 274150</li><li>I->F at 673: in TTP; impairs protein secretion, MIM: 274150</li><li>R->C at 692: in TTP, MIM: 274150</li><li>A->V at 732: minor effects on protein secretion: in dbSNP rsrs41314453, MIM: 274150</li><li>E->K at 740: in dbSNP:rs36221451, MIM: 274150</li><li>A->V at 900: in dbSNP:rs685523, MIM: 274150</li><li>S->L at 903: in a patient with thrombotic thrombocytopenic purpura; probable polymorphism, MIM: 274150</li><li>C->Y at 908: in TTP; impairs protein secretion, MIM: 274150</li><li>C->G at 951: in TTP, MIM: 274150</li><li>G->R at 982: in dbSNP rsrs36222275, MIM: 274150</li><li>C->G at 1024: in TTP, MIM: 274150</li><li>A->T at 1033: in dbSNP:rs28503257, MIM: 274150</li><li>R->W at 1095: in a patient with thrombotic thrombocytopenic purpura, MIM: 274150</li><li>R->C at 1123: in TTP; impairs protein secretion, MIM: 274150</li><li>C->Y at 1213: in TTP, MIM: 274150</li><li>T->I at 1226: in dbSNP rsrs36222894, MIM: 274150</li><li>G->V at 1239: in TTP; impairs protein secretion, MIM: 274150</li><li>R->W at 1336: in TTP; impairs protein secretion and proteolytic activity, MIM: 274150</li>	protein secretion	GO:0009306					<li>Q6S9E0</li><li>P26651</li><li>P53781</li><li>P22893</li><li>P47973</li>	Congenital thrombotic thrombocytopenic purpura (TTP) [MIM:274150]	<li>rs2301612</li><li>rs28647808</li><li>rs36222894</li><li>rs36222275</li><li>rs34024143</li><li>rs36220239</li><li>rs685523</li><li>rs41314453</li><li>rs36220240</li><li>rs36221451</li><li>rs28503257</li><li>rs11575933</li><li>rs36090624</li>	3
Q76MJ5	10595	<ul><li>K->A at 548: Loss of autophosphorylation, of induction of apoptosis and of 28S rRNA cleavage, attenuation of repression of protein synthesis</li></ul>	<li>V->I at 69</li><li>R->C at 118</li><li>R->C at 184</li><li>Q->R at 271</li><li>A->T at 318</li><li>L->F at 410</li><li>T->S at 487</li><li>L->F at 504</li><li>R->Q at 537</li><li>H->Y at 858</li>	<li>autophosphorylation</li><li>induction of apoptosis</li>	<li>GO:0046777</li><li>GO:0006917</li>								3
Q7KZI7	2011	<ul><li>T->A at 208: Prevents phosphorylation and activation by STK11 complex</li><li>T->A at 596: Loss of membrane dissociation and binding to YWHAZ</li></ul>		phosphorylation	GO:0016310	binding	GO:0005488	membrane	GO:0016020	<li>P63103</li><li>Q15831</li><li>P29361</li><li>Q5ZKC9</li><li>Q0GGW5</li><li>Q5R651</li><li>P63104</li>			1
Q7L0Q8	58480	<ul><li>T->N at 63: Loss of GTP binding and localization to focal adhesions</li><li>T->S at 81: Loss of binding to PAK3; when associated with A-83 and C-86</li><li>F->A at 83: Loss of binding to PAK3; when associated with S-81 and C-86</li><li>F->C at 86: Loss of binding to PAK3; when associated with S-81 and A-83</li><li>Q->L at 107: Constitutively active. Results in increased rates of stress fiber dissolution and cell migration</li><li>C->S at 255: No effect on subcellular location</li><li>C->S at 256: Loss of subcellular location to plasma and intracellular membranes</li></ul>	<li>T->A at 121: in dbSNP:rs3820264</li>	<li>cell migration</li><li>localization</li>	<li>GO:0016477</li><li>GO:0051179</li>	<li>binding</li><li>GTP binding</li>	<li>GO:0005488</li><li>GO:0005525</li>	<li>intracellular</li><li>stress fiber</li><li>membranes</li><li>focal adhesions</li>	<li>GO:0005622</li><li>GO:0001725</li><li>GO:0016020</li><li>GO:0005925</li>	<li>P26364</li><li>O75914</li><li>Q7YQL3</li><li>Q7YQL4</li>		rs3820264	3
Q7L2H7	10480	<ul><li>L->P at 350: Reduces HSV binding and entry</li><li>L->P at 354: Reduces HSV binding and entry</li><li>L->P at 361: Reduces HSV binding and entry</li><li>V->P at 364: Reduces HSV binding and entry</li></ul>	<li>G->R at 37: in dbSNP:rs11557143</li><li>E->G at 80: in a breast cancer sample; somatic mutation</li><li>Q->R at 346: in dbSNP:rs1802363</li>			binding	GO:0005488					<li>rs1802363</li><li>rs11557143</li>	3
Q7L622	55632	<ul><li>KK->AA at 30-31: Loss of nucleolar localization. No effect on nuclear localization</li><li>C->A at 84: Strong activity; when associated with A-258; A-261 and A-666. Strong activity; when associated with A-147 and A-666. No activity; when associated with A-147; A-258 and A-261</li><li>C->A at 147: Strong activity; when associated with A-84 and A-666. No activity; when associated with A-258; A-261 and A-666. No activity; when associated with A-84; A-258 and A-261</li><li>C->A at 258: Strong activity; when associated with A-84; A-261 and A-666. No activity; when associated with A-147; A-261 and A-666. No activity; when associated with A-84; A-147 and A-261</li><li>C->A at 261: Strong activity; when associated with A-84; A-258 and A-666. No activity; when associated with A-84; A-147 and A-258. No activity; when associated with A-147; A-258 and A-666</li><li>C->A at 666: No effect on subcellular location. Strong activity; when associated with A-84; A-258 and A261. Strong activity; when associated with A-84 and A-147. No activity; when associated with A-147; A-258 and A-261</li></ul>	<li>R->H at 232: in dbSNP:rs17096934</li>	localization	GO:0051179							rs17096934	3
Q7L7L0	92815	<ul><li>S->A at 2: Blocks the inhibition of transcription by RPS6KA5/MSK1</li></ul>		transcription	GO:0006350					<li>P32048</li><li>Q5F3L1</li><li>Q5R4K3</li><li>O75582</li>			1
Q7L804	22841	<ul><li>NPF->AAA at 406-408: Severe reduction of the interaction with REPS1 and AP2A1. No effects on its subcellular location. Modifies the endocytosis activity</li><li>YID->AAA at 480-482: Abolishes the interaction with REPS1 and AP2A1. Modifies its subcellular location and the endocytosis activity. Enhances homooligomerization</li></ul>	<li>F->V at 152: in dbSNP:rs34028100</li>	endocytosis	GO:0006897					<li>Q96D71</li><li>O95782</li>		rs34028100	3
Q7L8A9	22846	<ul><li>R->A at 29: Disappearance of 42 kDa processed form</li><li>R->A at 76: Disappearance of 36, 32 and 27 kDa processed forms</li></ul>											1
Q7RTN6	92335	<ul><li>T->A at 329: Loss of STK11-mediated phosphorylation</li><li>T->A at 419: Loss of STK11-mediated phosphorylation</li></ul>	<li>R->W at 13: in dbSNP rsrs35808156</li><li>S->I at 60: in dbSNP rsrs56271007</li><li>P->S at 64: in dbSNP rsrs55695051</li>	phosphorylation	GO:0016310					<li>Q15831</li><li>Q0GGW5</li>		<li>rs56271007</li><li>rs35808156</li><li>rs55695051</li>	3
Q7RTT9	222962	<ul><li>D->A at 91: No significant change in cationic transport activity</li><li>D->A at 107: Loss of cationic transport activity</li><li>E->A at 128: No significant change in cationic transport activity</li><li>D->A at 154: Loss of cationic transport activity; increase in uridine uptake</li><li>D->A at 163: Loss of cationic transport activity</li><li>E->A at 206: Loss of cationic transport activity</li><li>E->D at 206: No loss of cationic transporter activity; no activity towards uridine</li><li>E->Q at 206: Loss of cationic transporter activity; increase in uridine uptake</li><li>E->R at 206: Loss of cationic transporter activity</li><li>T->A at 220: Reduced cationic transport activity</li><li>T->I at 220: Loss of cationic transporter activity</li><li>T->S at 220: Reduced cationic transport activity</li><li>E->A at 227: Functional with slight increased cationic transport activity</li><li>E->A at 242: Reduced cationic transport activity</li><li>W->A at 336: Loss of cationic transport activity</li><li>E->A at 375: Functional with slight increased cationic transport activity</li><li>E->Q at 375: No change in cationic activity and pH sensitivity</li></ul>	<li>V->E at 79: in dbSNP:rs17854505</li><li>N->K at 124: in dbSNP:rs17855675</li><li>P->T at 429: in dbSNP:rs17857336</li>	transport	GO:0006810	transporter activity	GO:0005215					<li>rs17857336</li><li>rs17854505</li><li>rs17855675</li>	3
Q7RTX0	83756	<ul><li>A->G at 537: Retains partial activity toward brazzein; however response to other sweeteners tested is suppressed</li><li>A->P at 537: Receptor unresponsive to all sweeteners tested</li><li>A->T,S,E,V at 537: Abolished the response to brazzein</li><li>F->A,H at 540: Reduces the response to brazzein and monellin</li><li>F->L at 540: Reduces the response to monellin</li><li>F->Y,P at 540: Reduces the response to brazzein; P-540 also enhances responses to the small molecule sweeteners</li></ul>	<li>C->R at 757: in dbSNP:rs307377</li>							P56552		rs307377	3
Q7Z2D5	9890	<ul><li>H->K at 252: Loss of activity</li></ul>	<li>Q->K at 2: in dbSNP:rs712896</li><li>A->V at 32: in dbSNP:rs35285687</li>									<li>rs712896</li><li>rs35285687</li>	3
Q7Z2E3	54840	<ul><li>R->A at 43: Impairs interaction with XRCC1 and XRCC4</li><li>H->A at 274: Abolishes enzyme activity</li><li>C->A at 333: Abolishes DNA-binding and enzyme activity; when associated to A-336</li><li>C->A at 336: Abolishes DNA-binding and enzyme activity; when associated to A-333</li></ul>	<li>K->Q at 211: in AOA; it probably does not greatly affect the protein; heterozygous, MIM: 208920</li><li>A->V at 212: in AOA; heterozygous, MIM: 208920</li><li>R->H at 213: in AOA, MIM: 208920</li><li>H->R at 215: in AOA, MIM: 208920</li><li>P->L at 220: in AOA, MIM: 208920</li><li>L->P at 237: in AOA, MIM: 208920</li><li>V->G at 277: in AOA; abolishes DNA-binding and enzymatic activity towards Ap, MIM: 208920</li><li>D->G at 281: in AOA; heterozygous, MIM: 208920</li><li>W->R at 293: in AOA; heterozygous, MIM: 208920</li>			DNA-binding	GO:0003677			<li>Q682V0</li><li>Q13426</li><li>O54935</li><li>P18887</li>	Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]		3
Q7Z3T8	9765	<ul><li>C->S at 753: Abolishes localization to endosomes and association with PI3P</li></ul>	<li>T->I at 192: in dbSNP:rs2544600</li><li>T->I at 598: in dbSNP:rs259028</li><li>G->S at 1055: in dbSNP:rs249038</li>	localization	GO:0051179			endosomes	GO:0005768			<li>rs249038</li><li>rs259028</li><li>rs2544600</li>	3
Q7Z434	57506	<ul><li>T->A at 54: Impairs ability to induce IFN-beta</li><li>GWV->AAA at 67-69: Impairs ability to induce IFN-beta</li><li>Q->N at 145: No interaction with TRAF2</li><li>E->D at 155: No interaction with TRAF6; when associated with D-457</li><li>Q->A at 427: No cleavage by HHAV 3ABC</li><li>C->R at 435: No effect on cleavage by NS3/4A protease complex</li><li>C->R at 452: No effect on cleavage by NS3/4A protease complex</li><li>E->D at 457: No interaction with TRAF6; when associated with D-155</li><li>E->A at 463: No effect on cleavage by HHAV 3ABC</li><li>C->A,R at 508: No cleavage by HCV and hepatitis GB virus B NS3/4A protease complex</li></ul>	<li>C->F at 79: in dbSNP:rs11905552</li><li>Q->E at 93: in dbSNP:rs17857295</li><li>Q->K at 198: in dbSNP:rs7262903</li><li>S->F at 409: in dbSNP:rs7269320</li>							<li>P19028</li><li>P24107</li><li>Q9QBZ5</li><li>Q9QBZ1</li><li>P15833</li><li>Q79666</li><li>P18042</li><li>P03362</li><li>P03363</li><li>P04024</li><li>Q8AII1</li><li>P04023</li><li>O93215</li><li>P10978</li><li>P26810</li><li>Q1A249</li><li>P03356</li><li>P03355</li><li>O41798</li><li>P20892</li><li>Q9Y6I0</li><li>P10210</li><li>Q9QBY3</li><li>P03353</li><li>P16901</li><li>O77812</li><li>Q74120</li><li>Q09SZ9</li><li>Q89928</li><li>Q73368</li><li>P06591</li><li>P15775</li><li>P84454</li><li>Q9WC63</li><li>P15779</li><li>P20825</li><li>Q9IDV9</li><li>P0C211</li><li>P51518</li><li>P0C210</li><li>Q4U0X6</li><li>P12451</li><li>P07570</li><li>P28936</li><li>O89940</li><li>P24740</li><li>P26809</li><li>P26808</li><li>Q0R5R3</li><li>Q0R5R2</li><li>P18802</li><li>Q12933</li><li>P10394</li><li>P19561</li><li>P16423</li><li>P70499</li><li>P63119</li><li>P19560</li><li>Q75002</li><li>P04589</li><li>P04587</li><li>P04588</li><li>Q9QSR3</li><li>O91080</li><li>P16046</li><li>Q90056</li><li>P17757</li><li>P12497</li><li>P12499</li><li>P12498</li><li>P03311</li><li>P20875</li><li>P20876</li><li>Q6XZW6</li><li>P10273</li><li>Q9WC54</li><li>P10272</li><li>P10271</li><li>P10270</li><li>P19199</li><li>P05962</li><li>P18096</li><li>P10265</li><li>P04584</li><li>Q9N2J0</li><li>P11227</li><li>P04585</li><li>Q76634</li><li>Q8I7P9</li><li>Q9Q720</li><li>P14078</li><li>P31822</li><li>P11365</li><li>P05012</li><li>P35963</li><li>P14074</li><li>P05959</li><li>P63131</li><li>P04323</li><li>P10274</li><li>P21407</li><li>P35956</li><li>O89290</li><li>P05960</li><li>P05961</li><li>Q1A267</li><li>Q9Y4K3</li><li>P63122</li><li>P63123</li><li>O71152</li><li>P63124</li><li>P63125</li><li>P01575</li><li>P63120</li><li>P63121</li><li>P29076</li><li>P01574</li><li>P03366</li><li>P03367</li><li>P03369</li><li>P63127</li><li>P63128</li><li>P63129</li><li>P03370</li><li>Q77373</li><li>P27502</li><li>P21414</li><li>Q04854</li>		<li>rs7262903</li><li>rs11905552</li><li>rs17857295</li><li>rs7269320</li>	3
Q7Z4G1	170622	<ul><li>W->A at 24: Does not abolish homodimerization and interaction with COMMD1. Does not abolish repression of TNF-induced NFKB1 activation. Abolishes repression of TNF-induced NFKB1 activation; when associated with A-41</li><li>P->A at 41: Does not abolish homodimerization and interaction with COMMD1. Does not abolish repression of TNF-induced NFKB1 activation. Abolishes repression of TNF-induced NFKB1 activation; when associated with A-24</li></ul>	<li>H->N at 52: in dbSNP:rs1063485</li>							<li>Q8WNR1</li><li>P13296</li><li>Q8HZD9</li><li>P59684</li><li>P36939</li><li>Q8JFG3</li><li>Q2M2T5</li><li>O77764</li><li>P01375</li><li>Q8MKG8</li><li>Q2MH05</li><li>P04924</li><li>P33620</li><li>P23563</li><li>P79337</li><li>O35734</li><li>Q06599</li><li>Q9BEA1</li><li>P19101</li><li>P48094</li><li>Q75N23</li><li>Q8N668</li><li>Q6F3J0</li><li>Q1G1A2</li><li>P59695</li><li>P59694</li><li>P59693</li><li>Q539C2</li><li>Q04861</li><li>P51435</li><li>P19838</li><li>P29553</li><li>Q8WMD0</li><li>Q19LH4</li><li>O77510</li><li>P51742</li><li>P23383</li><li>P51743</li><li>Q1WM27</li><li>P79374</li>		rs1063485	3
Q7Z4W1	51181	<ul><li>N->L,D at 107: Loss of function. Probably due to defects in formation of the active site and binding of coenzyme</li></ul>				binding	GO:0005488						1
Q7Z569	8315	<ul><li>C->A at 264: Loss of E3 ubiquitin-protein ligase activity</li></ul>								<li>Q8RSY1</li><li>Q2QCI9</li>			1
Q7Z589	56946	<ul><li>VPL->APA at 100-102: Abolishes interaction with CBX1</li><li>L->A at 106: Abolishes interaction with ZMYND11</li></ul>								<li>P83916</li><li>Q15326</li>			1
Q7Z5G4	51125	<ul><li>C->A at 24: Slightly reduces palmitoylation</li><li>C->A at 69: Strongly reduces palmitoylation. Abolishes palmitoylation and Golgi localization; when associated with A-72</li><li>C->A at 72: Strongly reduces palmitoylation. Abolishes palmitoylation and Golgi localization; when associated with A-69</li><li>C->A at 81: Slightly reduces palmitoylation</li></ul>		localization	GO:0051179								1
Q7Z5Q5	353497	<ul><li>D->A at 623: No detectable activity</li></ul>	<li>Q->H at 121: in dbSNP:rs2353552</li><li>R->G at 201: in dbSNP rsrs35884361</li><li>M->L at 310: in dbSNP:rs10018786</li><li>P->S at 315: in dbSNP:rs11725880</li><li>G->S at 336: in dbSNP:rs10011549</li><li>R->C at 425: in dbSNP:rs9328764</li><li>S->G at 502: in dbSNP rsrs34574483</li><li>F->L at 711: in dbSNP rsrs34554757</li>									<li>rs34574483</li><li>rs11725880</li><li>rs10011549</li><li>rs35884361</li><li>rs10018786</li><li>rs34554757</li><li>rs9328764</li><li>rs2353552</li>	3
Q7Z614	124460	<ul><li>R->Q at 116: Decreased binding activity to all phospholipids</li></ul>	<li>P->L at 35: in dbSNP:rs1131716</li>			binding	GO:0005488					rs1131716	3
Q7Z6A9	151888	<ul><li>Y->F at 226: No change of phosphorylation implicated in interaction with PTPN6 and PTPN11. Severe reduction of phosphorylation; when associated with F-257 and/or F-282</li><li>Y->F at 257: No change of phosphorylation implicated in interaction with PTPN6 and PTPN11. Severe reduction of phosphorylation; when associated with F-226 and/or F-282</li><li>Y->F at 282: No change of phosphorylation implicated in interaction with PTPN6 and PTPN11. Severe reduction of phosphorylation; when associated with F-226 and/or F-257</li></ul>	<li>S->R at 157: in dbSNP:rs2931761</li><li>L->P at 267: in dbSNP:rs9288952</li>	phosphorylation	GO:0016310					<li>P29350</li><li>Q06124</li><li>Q90687</li>		<li>rs9288952</li><li>rs2931761</li>	3
Q7Z6J0	57630	<ul><li>V->A at 14: Loss of Ubl activity</li><li>S->A at 304: Decreased level of phosphorylation and no change in the ability to induce apoptosis</li><li>S->D at 304: Decreased level of phosphorylation and Rac-binding ability and important loss of the ability to induce apoptosis</li><li>S->E at 304: Decreased Rac-binding ability</li></ul>	<li>P->S at 663: in dbSNP:rs3811813</li>	<li>phosphorylation</li><li>apoptosis</li>	<li>GO:0016310</li><li>GO:0006915</li>	binding	GO:0005488			P31750		rs3811813	3
Q7Z6Z7	10075	<ul><li>Y->S at 4268: Loss of activity</li><li>C->A,D at 4341: Loss of activity</li></ul>	<li>R->H at 2981: in MRXS-Turner</li><li>R->W at 4013: in MRXS-Turner</li><li>R->C at 4187: in MRXS-Turner</li>										3
Q7Z7A4	54899	<ul><li>R->Q at 54: No effect on subcellular location</li><li>Y->A at 56: Results in redistribution of protein from cytoplasm throughout entire cell</li><li>R->L at 92: Results in redistribution of protein from cytoplasm throughout entire cell</li></ul>	<li>I->V at 426: in dbSNP rsrs55973253</li><li>K->R at 481: in dbSNP rsrs56384862</li><li>A->V at 525: in dbSNP:rs34579268</li><li>A->V at 535: in dbSNP:rs34579268</li>					cytoplasm	GO:0005737			<li>rs55973253</li><li>rs56384862</li><li>rs34579268</li>	3
Q7Z7L7	10444	<ul><li>L->S at 9: Abolishes interaction with TCEB1</li></ul>								<li>Q15369</li><li>Q2KII4</li>			1
Q86SQ0	90102	<ul><li>KR->AA at 1162-1163: Loss of binding to PtdIns(3,4,5)P3</li></ul>	<li>P->S at 941: in dbSNP:rs3749298</li>			binding	GO:0005488					rs3749298	3
Q86T24	10009	<ul><li>C->R at 552: Abrogates both sequence-specific and methylation-dependent DNA-binding</li></ul>				DNA-binding	GO:0003677						1
Q86TG7	23089	<ul><li>D->A at 370: Inhibits proteolytic cleavage</li></ul>											1
Q86TM6	84447	<ul><li>C->S at 329: Abolishes E3 ligase activity</li></ul>				ligase activity	GO:0016874						1
Q86TP1	58497	<ul><li>D->A at 28: Partial loss of cAMP PDE activity. Partial loss of cAMP PDE activity; when associated with D-106. Partial loss of cAMP PDE activity; when associated with D-106 and D-179</li><li>D->A at 106: No change in cAMP PDE activity. Partial loss of cAMP PDE activity; when associated with D-28. Partial loss of cAMP PDE activity; when associated with D-28 and D-179</li><li>DHRP->AAAA at 126-129: Partial loss of cAMP PDE activity</li><li>D->A at 179: Partial loss of cAMP PDE activity. Partial loss of cAMP PDE activity; when associated with D-28 and D-106</li></ul>	<li>G->S at 397: in dbSNP:rs3738477</li>									rs3738477	3
Q86U42	8106	<ul><li>Missing at 213-220: Abolishes self-association, protein aggregation and cell death</li><li>Missing at 301-306: Abolishes self-association, protein aggregation and cell death</li></ul>	<li>A->AAAA at 6</li>	cell death	GO:0008219								3
Q86UA6	84268	<ul><li>K->R at 114: Abolishes sumoylation; when associated with N-103; R-121 and R-142</li><li>K->R at 121: Induces a strong decrease in sumoylation; when associated with N-103. Abolishes sumoylation; when associated with N-103; R-114 and R-142</li><li>K->R at 142: Abolishes sumoylation; when associated with N-103; R-114 and R-121</li></ul>	<li>K->N at 103: common polymorphism; results in a decrease in sumoylation; dbSNP:rs12761</li>	sumoylation	GO:0016925							rs12761	3
Q86UD5	133308	<ul><li>DD->CC at 278-279: Loss of ion transport activity</li></ul>	<li>I->T at 159: in dbSNP:rs7672710</li><li>V->A at 161: in dbSNP:rs7672707</li><li>F->C at 357: in dbSNP:rs2276976</li>	ion transport	GO:0006811							<li>rs7672710</li><li>rs2276976</li><li>rs7672707</li>	3
Q86UE8	11011	<ul><li>D->A at 613: Loss of kinase activity</li></ul>	<li>H->R at 6: in dbSNP rsrs45550140</li><li>E->D at 54</li><li>A->G at 95</li><li>A->G at 108</li><li>R->L at 109</li><li>F->L at 173: in a gastric adenocarcinoma sample; somatic mutation</li><li>R->Q at 262</li>			kinase activity	GO:0016301					rs45550140	3
Q86UN6	158798	<ul><li>L->P at 43: Abolishes RII-binding; when associated with P-47</li><li>V->P at 47: Abolishes RII-binding; when associated with P-43</li></ul>				binding	GO:0005488						1
Q86UQ8	58160	<ul><li>K->R at 43: Abolishes acetylation</li></ul>	<li>A->D at 45: in dbSNP:rs6465886</li><li>Q->R at 116: in dbSNP:rs2228687</li>									<li>rs2228687</li><li>rs6465886</li>	3
Q86UR1	10811	<ul><li>P->A at 34: Partial loss of function</li><li>P->A at 37: Partial loss of function</li><li>D->A at 68: Loss of function and loss of interaction with RAC1</li><li>R->E at 103: Loss of function and loss of interaction with RAC1. Loss of localization to membranes</li><li>S->A at 172: Loss of phosphorylation. Loss of interaction with YHAWZ; when associated with A-461</li><li>S->E at 172: Constitutively interacts with YWHAZ; when associated with E-461</li><li>V->A at 205: Unable to activate NOX2</li><li>W->R at 436: Loss of interaction with NOXO1 and NCF1. Loss of localization to membranes. Partial loss of function</li><li>S->A at 461: Loss of phosphorylation. Loss of interaction with YHAWZ; when associated with A-172</li><li>S->E at 461: Constitutively interacts with YWHAZ; when associated with E-172</li></ul>	<li>Missing  at 274-476: in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate</li><li>P->L at 286: in dbSNP:rs34155071</li>	<li>phosphorylation</li><li>localization</li>	<li>GO:0016310</li><li>GO:0051179</li>			membranes	GO:0016020	<li>Q5ZKC9</li><li>O77774</li><li>Q8NFA2</li><li>Q9SSX0</li><li>P14598</li><li>P80236</li><li>P63000</li><li>P63103</li><li>P29361</li><li>P04839</li><li>Q5R651</li><li>O04369</li><li>Q38912</li><li>P13362</li><li>P62999</li><li>P63104</li><li>P62998</li>		rs34155071	3
Q86UR5	22999	<ul><li>RR->AA at 796-797: Abolishes interaction with SYT1 and CACNA1B</li><li>KK->AA at 1591-1592: Abolishes interaction with SYT1 and CACNA1B</li></ul>	<li>R->H at 820: in CORD7, MIM: 603649</li>							<li>Q00975</li><li>P41823</li><li>Q60HC0</li><li>P21579</li><li>P47191</li><li>Q5R4J5</li><li>Q05152</li><li>O73706</li><li>P48018</li>	Cone-rod dystrophy type 7 (CORD7) [MIM:603649]		3
Q86US8	23293	<ul><li>D->A at 1353: Strongly reduced RNase activity</li></ul>	<li>R->P at 291: in dbSNP:rs1885986</li><li>K->Q at 294: in dbSNP:rs216195</li><li>N->T at 341: in dbSNP:rs1885987</li><li>N->S at 575: in dbSNP:rs34047637</li><li>A->T at 972: in dbSNP:rs903160</li><li>R->C at 984: in dbSNP:rs35173108</li><li>H->R at 1233: in dbSNP:rs2273980</li>									<li>rs903160</li><li>rs35173108</li><li>rs34047637</li><li>rs1885987</li><li>rs1885986</li><li>rs2273980</li><li>rs216195</li>	3
Q86VB7	9332	<ul><li>T->A at 1072: Impaired phosphorylation by PRKCA</li><li>S->A at 1084: Impaired phosphorylation by PRKCA</li><li>Y->A at 1096: Massive decrease of endocytotic activity</li></ul>	<li>V->I at 342: in dbSNP:rs4883263</li>	phosphorylation	GO:0016310					<li>P10102</li><li>P17252</li><li>P04409</li>		rs4883263	3
Q86VW2	115557	<ul><li>L->E at 301: Abolishes its exchange activity on RHOA</li><li>F->A at 471: Reduces exchange activity mediated by GNAQ activation; in truncated construct</li><li>L->A at 472: Reduces exchange activity mediated by GNAQ activation; in truncated construct</li><li>L->A at 475: Reduces exchange activity mediated by GNAQ activation; in truncated construct</li><li>P->A at 478: Reduces exchange activity mediated by GNAQ activation; in truncated construct</li><li>I->A at 479: Reduces exchange activity mediated by GNAQ activation; in truncated construct</li></ul>	<li>C->Y at 253: in dbSNP:rs17857333</li><li>G->R at 397: in dbSNP:rs17854492</li><li>Q->R at 506: in dbSNP:rs1564374</li>							<li>Q2PKF4</li><li>P24406</li><li>P61586</li><li>P61585</li><li>P50148</li><li>Q28294</li>		<li>rs17857333</li><li>rs1564374</li><li>rs17854492</li>	3
Q86W47	27345	<ul><li>T->A at 11: Suppresses the effect of okadaic acid and increases activation time constant; when associated with A-17 and A-210</li><li>T->D at 11: Suppresses its effect on KCNMA1 channel activation and on deactivation kinetics; when associated with E-17 and E-210</li><li>S->A at 17: Suppresses the effect of okadaic acid and increases activation time constant; when associated with A-11 and A-210</li><li>S->E at 17: Suppresses its effect on KCNMA1 channel activation and on deactivation kinetics; when associated with D-11 and E-210</li><li>N->A at 53: Loss of N-glycosylation and reduced protection against charybdotoxin; when associated with A-90</li><li>N->A at 90: Loss of N-glycosylation and reduced pr$otection against charybdotoxin; when associated with A-53</li><li>S->A at 210: Suppresses the effect of okadaic acid and increases activation time constant; when associated with A-11 and A-17</li><li>S->E at 210: Suppresses its effect on KCNMA1 channel activation and on deactivation kinetics; when associated with D-11 and E-17</li></ul>	<li>V->I at 199</li>							<li>Q8AYS8</li><li>O18866</li><li>O18867</li><li>Q28204</li><li>P13487</li><li>Q28265</li><li>Q9BG98</li><li>Q12791</li>			3
Q86W56	8505	<ul><li>K->A at 12: Abolishes nuclear targeting; when associated with G-13</li><li>R->G at 13: Abolishes nuclear targeting; when associated with A-12</li><li>R->A at 36: No effect</li><li>R->G at 37: No effect</li></ul>											1
Q86WB0	51530	<ul><li>Y->F at 105: Does not strongly affect phosphorylation status; when associated with F-137</li><li>Y->F at 137: Does not strongly affect phosphorylation status; when associated with F-105</li><li>LP->FM at 170-171: Abolishes interaction with SKP1A</li><li>S->A at 354: Strongly reduces phosphorylation and induces the formation of a constitutive SCF(NIPA) E3 complex that degrades CCNB1 at G2/M phase and delays mitotic entry</li><li>RKAK->AAAA at 398-401: Induces a complete cytoplasmic redistribution</li><li>K->P at 399: Induces a partial cytoplasmic redistribution</li></ul>	<li>T->A at 271: in dbSNP:rs1464890</li><li>R->H at 363: in dbSNP:rs11556924</li>	<li>phosphorylation</li><li>M phase</li>	<li>GO:0016310</li><li>GO:0000279</li>					<li>P21583</li><li>Q9DG97</li><li>Q60FY0</li><li>P20826</li><li>P79169</li><li>Q95MD2</li><li>P63209</li><li>P63208</li><li>Q9IBG1</li><li>Q5R8V9</li><li>Q08301</li><li>Q06220</li><li>Q39255</li><li>P79368</li><li>P21581</li><li>Q9DGA4</li><li>Q9DGA0</li><li>Q86WB0</li><li>Q29030</li><li>Q95M19</li><li>Q90314</li><li>Q28132</li><li>P14635</li><li>Q95N18</li><li>Q09108</li><li>P37882</li>		<li>rs1464890</li><li>rs11556924</li>	3
Q86WV1	8631	<ul><li>Y->F at 219: Impairs interaction with PTPRC. No effect on interaction with FYN or GRB2</li><li>Y->F at 232: Abolishes interaction with PTPRC, translocation to cell membrane upon T-cell stimulation and activation of the MAP kinase pathway. No effect on interaction with FYN or GRB2</li><li>Y->F at 271: No effect on interaction with PTPRC and translocation to cell membrane upon T-cell stimulation. Abolishes interaction with FYN and GRB2 and activation of the MAP kinase pathway</li><li>Y->F at 295: Abolishes FYB-dependent activation of ITGAL clustering</li><li>Y->F at 298: Impairs interaction with FYB</li><li>W->R at 333: Abolishes homodimerization, interaction with FYB and activation of the MAP kinase pathway</li></ul>	<li>S->G at 161: in dbSNP:rs2278868</li><li>S->G at 242: in dbSNP:rs35288886</li>					cell membrane	GO:0005886	<li>Q05876</li><li>P62993</li><li>Q07883</li><li>Q5R4J7</li><li>P08575</li><li>P20701</li><li>P06241</li><li>O15117</li><li>P61625</li><li>P27446</li>		<li>rs2278868</li><li>rs35288886</li>	3
Q86WV6	340061	<ul><li>SLS->ALA at 324-326: Induces a decrease in phosphorylation by TBK1</li><li>S->A at 358: Induces a decrease in phosphorylation by TBK1 and ability to activate IRF-E</li></ul>	<li>R->H at 71: in dbSNP:rs11554776</li><li>H->R at 232: in dbSNP:rs1131769</li><li>R->Q at 293: in dbSNP:rs7380824</li>	phosphorylation	GO:0016310					<li>Q9UHD2</li><li>Q969Q1</li>		<li>rs7380824</li><li>rs11554776</li><li>rs1131769</li>	3
Q86XP1	160851	<ul><li>W->G at 1151: Abolishes homo and heterooligomerization but not its catalytic activity</li></ul>	<li>V->A at 1201: in dbSNP:rs17646069</li>			catalytic activity	GO:0003824					rs17646069	3
Q86XR7	353376	<ul><li>G->A at 2: Results in relocalization from membrane to cytosol; Loss of ability to transduce TLR4-signal</li><li>S->A at 6: Loss of phosphorylation. Significant reduction in the ability to activate IRF3 or NF-kappa-B</li><li>S->A at 10: No effect on phosphorylation and on the ability to activate IRF3 or NF-kappa-B</li><li>S->A at 14: No effect on phosphorylation and on the ability to activate IRF3 or NF-kappa-B</li><li>S->A at 16: Loss of phosphorylation. Abolishes ability to activate IRF3 or NF-kappa-B and to transduce TLR4 signal</li><li>S->E at 16: Significant decrease of localization in the membrane</li><li>P->H at 116: Loss of ability to dimerize. Significant loss of RANTES-inducing activity. Loss of ability to induce NF-kappa-B activation</li><li>C->H at 117: Loss of ability to dimerize. Loss of RANTES-inducing activity and ability to induce NF-kappa-B activation. Inhibition of TLR4-dependent activation of IRF3 and IRF7. Loss of interaction with TLR4</li></ul>		<li>phosphorylation</li><li>localization</li>	<li>GO:0016310</li><li>GO:0051179</li>			<li>membrane</li><li>cytosol</li>	<li>GO:0016020</li><li>GO:0005829</li>	<li>P58727</li><li>Q9GL65</li><li>Q9WV82</li><li>Q4JF28</li><li>O00206</li><li>Q9TSP2</li><li>Q92985</li><li>Q68Y56</li><li>Q9MYW3</li><li>Q14653</li><li>Q8SPE8</li><li>Q2V898</li><li>Q9TTN0</li><li>Q764M6</li><li>Q90643</li><li>Q8SPE9</li>			1
Q86Y13	9666	<ul><li>KKKTK->SGSTA at 662-666: Strongly decreases RNA-binding activity</li><li>C->S at 1187: Abolishes ubiquitin ligase activity</li></ul>				<li>RNA-binding</li><li>ligase activity</li>	<li>GO:0003723</li><li>GO:0016874</li>			<li>P69326</li><li>P08565</li><li>P69322</li><li>P69323</li><li>P69324</li><li>P69325</li><li>P68196</li><li>O46543</li><li>P68197</li><li>Q05550</li><li>P68198</li><li>P68199</li><li>P19848</li><li>P68195</li><li>P42739</li><li>Q867C2</li><li>P62991</li><li>P62990</li><li>P61863</li><li>P61864</li><li>P61862</li><li>Q867C4</li><li>Q867C3</li><li>P23398</li><li>P68204</li><li>P84589</li><li>Q865C5</li><li>P42740</li><li>P68201</li><li>Q8MKD1</li><li>P14792</li><li>P63049</li><li>P0C072</li><li>P63051</li><li>P69308</li><li>P69309</li><li>P20685</li><li>P15174</li><li>P62976</li><li>P62977</li><li>P62974</li><li>P62975</li><li>P62972</li><li>P13117</li><li>P14624</li><li>P62973</li><li>P46574</li><li>P69310</li><li>P69313</li><li>P69314</li><li>P69311</li><li>P69312</li><li>P08618</li><li>P69317</li><li>P69318</li><li>P0C014</li><li>P69315</li><li>P69316</li><li>P59263</li><li>P69319</li><li>P49634</li><li>P49635</li><li>P22589</li><li>Q9Y848</li><li>P62988</li><li>P62989</li><li>P23324</li><li>P69321</li><li>P69320</li><li>P59669</li>			1
Q86Y38	64131	<ul><li>C->A at 257: No effect</li><li>C->A at 276: Strongly reduced enzyme activity</li><li>C->A at 285: No effect</li><li>C->A at 301: No effect</li><li>D->G at 314: No effect</li><li>D->G at 316: No effect</li><li>C->A at 471: Strongly reduced enzyme activity</li><li>C->A at 542: No effect</li><li>C->A at 561: Strongly reduced enzyme activity</li><li>C->A at 563: No effect</li><li>C->A at 572: Strongly reduced enzyme activity</li><li>C->A at 574: Strongly reduced enzyme activity</li><li>C->A at 675: No effect</li><li>D->E at 745: No effect</li><li>D->G at 745: Abolishes enzyme activity but does not affect UDP-binding</li><li>W->D,N,G at 746: Strongly reduced enzyme activity but does not affect UDP-binding</li><li>D->G,E at 747: Reduced enzyme activity but does not affect UDP-binding</li><li>C->A at 920: No effect</li><li>C->A at 927: No effect</li><li>C->A at 933: No effect</li></ul>	<li>P->R at 325: in dbSNP:rs28709752</li><li>P->A at 766: in dbSNP:rs12325439</li><li>V->I at 839: in dbSNP:rs7200466</li><li>R->Q at 892: in dbSNP:rs35309694</li>			binding	GO:0005488					<li>rs12325439</li><li>rs35309694</li><li>rs7200466</li><li>rs28709752</li>	3
Q86YJ5	92979	<ul><li>D->N at 231: Diminishes ability to promote MHC-I internalization</li></ul>	<li>Q->H at 257: in dbSNP:rs17856312</li><li>T->P at 307: in dbSNP:rs17850517</li>									<li>rs17856312</li><li>rs17850517</li>	3
Q86YL7	10630	<ul><li>T->A at 52: Eliminates induction of platelet aggregation</li></ul>	<li>A->G at 105: in dbSNP:rs2486188</li><li>A->G at 147</li>									rs2486188	3
Q86YN6	133522	<ul><li>LLAEL->AAAEA at 92-96: Reduces DNA transcriptional activity</li><li>LLQKLL->AAQKAA at 155-160: Reduces interaction and activation of ESR1. Loss of interaction and activation of ESR1; when associated with 343-AREAA-347</li><li>LRELL->AREAA at 343-347: Reduces interaction and activation of ESR1. Loss of interaction and activation of ESR1; when associated with 155-AAQKAA-160</li></ul>	<li>A->P at 203: in dbSNP:rs7732671</li><li>R->Q at 265: in dbSNP rsrs45520937</li><li>V->I at 279: in dbSNP:rs17572019</li><li>R->S at 292: in dbSNP:rs11959820</li>							<li>Q9TV98</li><li>Q9QZJ5</li><li>P49884</li><li>Q91424</li><li>Q91250</li><li>Q29040</li><li>P38111</li><li>Q9YHT3</li><li>P50242</li><li>P50241</li><li>P03372</li><li>P16058</li><li>P50240</li><li>Q9PVZ9</li><li>Q9YH33</li><li>P06212</li><li>P57753</li><li>P49885</li><li>Q53AD2</li><li>P49886</li><li>O42132</li><li>Q9YHZ7</li>		<li>rs11959820</li><li>rs7732671</li><li>rs45520937</li><li>rs17572019</li>	3
Q86YT9	120425	<ul><li>K->E at 54: Loss of localization to the plasma membrane</li></ul>	<li>I->N at 94: in dbSNP:rs17121881</li><li>V->A at 193: in dbSNP:rs1793174</li><li>I->M at 322: in dbSNP:rs2298831</li>	localization	GO:0051179			plasma membrane	GO:0005886			<li>rs17121881</li><li>rs2298831</li><li>rs1793174</li>	3
Q8IU60	167227	<ul><li>E->Q at 147: Loss of decapping activity; when associated with Q-148</li><li>E->Q at 148: Strongly reduced decapping activity</li></ul>											1
Q8IU85	57118	<ul><li>T->A at 180: Loss of ionomycin-induced activation</li></ul>	<li>I->M at 66: in dbSNP:rs34194224</li>									rs34194224	3
Q8IU99	255022	<ul><li>N->G at 72: Significant inhibition on the control of cytosolic Ca(2+) levels</li><li>N->A at 74: Has no effect on glycosylation</li><li>N->A at 140: Prevents glycosylation</li></ul>	<li>L->P at 86: in dbSNP:rs2986017</li>									rs2986017	3
Q8IUC4	85415	<ul><li>EN->AA at 58-59: Abolishes interaction with RhoA</li><li>R->A at 518: Does not induce actin disassembly but still interacts with RhoA; when associated with A-526 and A-527</li><li>LG->AA at 526-527: Does not induce actin disassembly but still interacts with RhoA; when associated with A-518</li></ul>								<li>Q92192</li><li>Q92193</li><li>P53499</li><li>P26183</li><li>P53498</li><li>O13419</li><li>Q9P4D1</li><li>P48465</li><li>P53455</li><li>Q39596</li><li>Q39758</li><li>P26182</li><li>P80709</li><li>Q9UVX4</li><li>P78711</li><li>P53689</li><li>O17320</li><li>P30161</li><li>P17128</li><li>P45521</li><li>P81085</li><li>P20904</li><li>P45520</li><li>Q6TCF2</li><li>Q99023</li><li>Q75D00</li><li>P51775</li><li>P10365</li><li>P60011</li><li>P60010</li><li>Q9C3Y4</li><li>Q8SWN8</li><li>O16808</li><li>P02577</li><li>P10989</li><li>P68555</li><li>Q05214</li><li>Q8X119</li><li>O65316</li><li>O65315</li><li>O65314</li><li>P53491</li><li>P91754</li><li>P13363</li><li>P11426</li><li>O81221</li><li>Q11212</li><li>P50138</li><li>P53477</li><li>P53476</li><li>P60009</li><li>P53502</li><li>Q2U7A3</li><li>P53500</li><li>Q9UVZ8</li><li>O00937</li><li>P14235</li><li>Q9UVF3</li><li>Q24733</li><li>P90689</li><li>P24902</li><li>O74258</li>			1
Q8IUC6	148022	<ul><li>E->A at 88: Reduces binding to TRAF6 and activation of NFKB signaling pathway; when associated with A-252 and A-303</li><li>E->A at 252: Reduces binding to TRAF6 and activation of NF-kappa-B signaling pathway; when associated with A-88 and A-303</li><li>E->A at 303: Reduces binding to TRAF6 and activation of NFKB signaling pathway; when associated with A-88 and A-252</li><li>P->H at 434: Abolishes binding to TLR3</li></ul>	<li>M->I at 46: in a breast cancer sample; somatic mutation</li><li>R->C at 75: in dbSNP:rs11466719</li><li>L->V at 275: in dbSNP:rs11466721</li><li>A->T at 666: in dbSNP:rs11466724</li>			binding	GO:0005488			<li>Q5TJ59</li><li>O15455</li><li>Q9Y4K3</li><li>Q0PV50</li>		<li>rs11466719</li><li>rs11466721</li><li>rs11466724</li>	3
Q8IUE6	317772	<ul><li>S->A at 2: Blocks the inhibition of transcription by RPS6KA5/MSK1</li></ul>	<li>A->T at 53: in a breast cancer sample; somatic mutation</li>	transcription	GO:0006350					<li>P32048</li><li>Q5F3L1</li><li>Q5R4K3</li><li>O75582</li>			3
Q8IUH2	200407	<ul><li>NN->QQ at 165-166: Abolishes N-glycosylation</li></ul>	<li>P->Q at 96: in dbSNP:rs11554173</li>									rs11554173	3
Q8IUH5	23390	<ul><li>C->S at 467: Abolishes palmitoyltransferase activity</li></ul>	<li>N->S at 383: in dbSNP:rs33996476</li>			palmitoyltransferase activity	GO:0016409					rs33996476	3
Q8IUQ4	6477	<ul><li>E->R at 40: Loss of function</li><li>C->S at 41: Loss of function; when associated with S-44</li><li>C->S at 44: Loss of function</li><li>C->S at 55: Loss of function; when associated with Y-59</li><li>H->Y at 59: Loss of function</li><li>R->L at 66: Decreased activity; when associated with T-68</li><li>K->T at 68: Decreased activity; when associated with L-66</li><li>R->E at 76: Decreased activity</li><li>R->A at 124: In D; does not impair its ability to interact with CACYBP and degrade CTNNB1 and PML; when associated with A-214; A-215; A-231 and A-232</li><li>D->A at 142: In E; does not impair its ability to interact with CACYBP and degrade CTNNB1; when associated with A-151</li><li>Q->A at 151: In E; does not impair its ability to interact with CACYBP and degrade CTNNB1; when associated with A-142</li><li>H->Y at 152: Abolishes ability to degrade DCC</li><li>ED->AA at 161-162: In A; does not impair its ability to degrade PML while it abolishes its ability to interact with CACYBP and degrade CTNNB1; when associated with A-226 and A-237</li><li>H->Y at 202: No effect</li><li>L->R at 211: Abolishes ability to degrade DCC</li><li>TR->AA at 214-215: In mutant D; does not impair its ability to interact with CACYBP and degrade CTNNB1 and PML; when associated with A-124; A-231 and A-232</li><li>R->A at 224: In C; does not impair its ability to interact with CACYBP and degrade CTNNB1; when associated with A-233</li><li>E->A at 226: In A; does not impair its ability to degrade PML while it abolishes its ability to interact with CACYBP and degrade CTNNB1; when associated with A-161; A-162 and A-237</li><li>RR->AA at 231-232: In D; does not impair its ability to interact with CACYBP and degrade CTNNB1 and PML; when associated with A-124; A-214 and A-215</li><li>R->A at 233: In C; does not impair its ability to interact with CACYBP and degrade CTNNB1; when associated with A-233</li><li>E->A at 237: In A; does not impair its ability to degrade PML while it abolishes its ability to interact with CACYBP and degrade CTNNB1; when associated with A-161; A-162 and A-226</li><li>N->A at 253: In B; does not impair its ability to interact with CACYBP and degrade CTNNB1; when associated with A-265</li><li>Q->A at 265: In B; does not impair its ability to interact with CACYBP and degrade CTNNB1; when associated with A-253</li></ul>								<li>P43146</li><li>Q9HB71</li><li>Q5R6Z8</li><li>P35222</li><li>P29590</li>			1
Q8IV04	374403	<ul><li>R->A at 141: Loss of GAP activity</li></ul>								<li>P20936</li><li>Q92263</li><li>P09851</li><li>Q92211</li><li>Q5PEA9</li><li>P74873</li><li>P74851</li><li>P50904</li>			1
Q8IV77	1262	<ul><li>L->E at 292: Loss of inhibition produced by calcium/calmodulin binding</li></ul>	<li>V->E at 553: in dbSNP:rs325706</li>			binding	GO:0005488			<li>Q40302</li><li>Q8STF0</li><li>P04353</li><li>P41040</li><li>P04352</li><li>Q9GRJ1</li><li>P61860</li><li>P02594</li><li>P02595</li><li>P61861</li><li>P48976</li><li>O82018</li><li>P62144</li><li>P62184</li><li>P93171</li><li>P62145</li><li>P07463</li><li>Q5RAD2</li><li>P24044</li><li>P11121</li><li>P62149</li><li>O02367</li><li>P06787</li><li>Q6IT78</li><li>P05935</li><li>P05933</li><li>O16305</li><li>Q6PI52</li><li>P05934</li><li>Q6YNX6</li><li>Q7Y052</li><li>Q95NR9</li><li>P11118</li><li>P62157</li><li>P62156</li><li>P21251</li><li>P62155</li><li>Q5EHV7</li><li>P62154</li><li>P62152</li><li>P62151</li><li>Q7T3T2</li><li>P69097</li><li>P69098</li><li>P60206</li><li>Q9U6D3</li><li>Q9HFY6</li><li>P60205</li><li>P60204</li><li>P62158</li><li>O96102</li><li>P18061</li><li>P62201</li><li>P11120</li><li>P93087</li><li>Q8X187</li><li>O60041</li><li>P62160</li><li>P62204</li><li>Q05055</li><li>P62203</li><li>P61859</li><li>P62202</li><li>P17928</li><li>P15094</li><li>Q95NI4</li><li>P02598</li><li>P62162</li><li>Q9UWF0</li><li>P02599</li><li>P62161</li><li>Q71UH6</li><li>Q71UH5</li><li>O97341</li><li>P04464</li><li>P27165</li><li>Q39752</li><li>P27166</li><li>P84339</li><li>P23286</li><li>P27161</li><li>O94739</li><li>P41041</li><li>Q6R520</li>		rs325706	3
Q8IVG9		<ul><li>Missing at 1-3: Abolishes the neuroprotective activity</li><li>Missing at 1-2: No effect on the neuroprotective activity</li><li>C->A,D,E,F,G,I, at 8: Abolishes the neuroprotective activity</li><li>C->H at 8: Significantly reduces the neuroprotective activity</li><li>C->K,R at 8: No effect on the neuroprotective activity</li><li>S->A at 14: Abolishes the neuroprotective activity</li><li>S->G at 14: Potentiation of the neuroprotective activity</li><li>Missing at 19-24: Abolishes the neuroprotective activity</li><li>Missing at 20-24: No effect on the neuroprotective activity</li></ul>											1
Q8IVH8	8491	<ul><li>K->E at 48: Loss of kinase activity and ability to activate JNK family</li></ul>	<li>V->L at 200: in dbSNP rsrs35957290</li><li>H->Q at 424</li><li>T->S at 669: in a lung squamous cell carcinoma sample; somatic mutation</li>			kinase activity	GO:0016301			<li>Q966Y3</li><li>P92208</li>		rs35957290	3
Q8IVW6	10620	<ul><li>P->H at 240: Impairs binding to RB1</li><li>W->S at 271: Impairs binding to RB1</li></ul>				binding	GO:0005488			P06400			1
Q8IW41	8550	<ul><li>T->A at 182: No p38 beta-induced activation</li></ul>	<li>M->I at 67: in dbSNP rsrs34132040</li><li>R->K at 282: in dbSNP rsrs34843470</li>							<li>Q04929</li><li>Q63768</li><li>O75791</li><li>P80350</li><li>O97628</li><li>Q01552</li><li>O24473</li><li>P82869</li><li>Q9Y2S7</li><li>Q9LDA4</li><li>O95433</li><li>P46108</li><li>Q64010</li>		<li>rs34132040</li><li>rs34843470</li>	3
Q8IWA4	55669	<ul><li>K->T at 88: Induces a strong decrease in mitochondrial clustering</li><li>T->A at 109: Acts as a dominant negative mutant; induces fragmentation of mitochondria</li></ul>	<li>D->H at 415: in a colorectal cancer sample; somatic mutation</li><li>P->R at 523: in dbSNP:rs7637065</li>									rs7637065	3
Q8IWQ3	9024	<ul><li>T->A at 174: Prevents phosphorylation and activation by STK11 complex</li></ul>		phosphorylation	GO:0016310					<li>Q15831</li><li>Q0GGW5</li>			1
Q8IWU5	55959	<ul><li>CC->AA at 88-89: Loss of arylsulfatase activity</li></ul>	<li>Y->H at 531: in a breast cancer sample; somatic mutation</li><li>D->N at 573: in a breast cancer sample; somatic mutation</li><li>R->H at 674: in dbSNP:rs10048853</li>							P51691		rs10048853	3
Q8IWU6	23213	<ul><li>CC->AA at 87-88: Loss of arylsulfatase activity and loss of ability to modulate apoptosis</li></ul>		apoptosis	GO:0006915					P51691			1
Q8IXI1	89941	<ul><li>A->V at 13: Causes constitutive activation inducing an aggregation of the mitochondrial network</li><li>T->N at 18: Induces an aggregation of the mitochondrial network</li></ul>	<li>R->Q at 245: in dbSNP:rs1139897</li><li>R->C at 425: in dbSNP:rs3177338</li>									<li>rs3177338</li><li>rs1139897</li>	3
Q8IXI2	55288	<ul><li>P->V at 13: Causes constitutive activation inducing an aggregation of the mitochondrial network</li><li>T->N at 18: Causes constitutive inactivation</li><li>E->K at 208: Abolishes the formation of thread-like mitochondria</li><li>E->K at 328: Abolishes the formation of thread-like mitochondria</li><li>K->V at 427: No effect</li><li>S->N at 432: No effect</li></ul>											1
Q8IXJ6	22933	<ul><li>R->A at 97: No effect on deacetylase activity</li><li>Q->A at 167: Reduced deacetylase activity</li><li>N->A at 168: Abolishes acetylation of alpha-tubulin</li><li>D->A,N at 170: Reduced deacetylase activity</li><li>H->Y,A at 187: Loss of function. Abolishes acetylation of alpha-tubulin. No effect on phosphorylation</li></ul>		phosphorylation	GO:0016310	deacetylase activity	GO:0019213			<li>Q71G51</li><li>Q5I2J3</li><li>P10873</li><li>Q9C413</li>			1
Q8IXL7	253827	<ul><li>H->G at 134: 30-fold reduction in activity</li><li>N->F at 153: 7000-fold reduction in activity</li><li>N->Y at 153: 500-fold reduction in activity</li></ul>											1
Q8IY84	167359	<ul><li>T->A at 229: Loss of autophosphorylation and kinase activity</li><li>T->E at 229: Constitutively active</li></ul>	<li>R->W at 21: in dbSNP rsrs55664335</li><li>E->Q at 64: in dbSNP rsrs55663207</li><li>L->I at 260: in dbSNP rsrs35659008</li><li>M->I at 320: in dbSNP rsrs55770078</li><li>P->S at 333: in a lung neuroendocrine carcinoma sample; somatic mutation</li><li>P->T at 411: in a lung large cell carcinoma sample; somatic mutation</li>	autophosphorylation	GO:0046777	kinase activity	GO:0016301					<li>rs55663207</li><li>rs55664335</li><li>rs55770078</li><li>rs35659008</li>	3
Q8IYB3	10250	<ul><li>K->A at 20: Strongly reduces DNA and RNA-binding</li><li>K->A at 22: Strongly reduces DNA and RNA-binding</li><li>K->A at 23: Strongly reduces DNA and RNA-binding</li></ul>	<li>R->H at 170: in dbSNP:rs17857102</li>			RNA-binding	GO:0003723					rs17857102	3
Q8IYB8	6832	<ul><li>G->V at 207: Abolishes dsDNA and dsRNA helicase activity</li><li>K->A,R at 213: Abolishes ATPase activity</li></ul>	<li>P->T at 30: in dbSNP:rs34596380</li>			ATPase activity	GO:0016887			<li>Q8V736</li><li>O67037</li><li>Q9UZ86</li><li>Q68772</li><li>O51934</li><li>P74759</li><li>P37987</li><li>P22657</li><li>Q04575</li><li>Q971T7</li><li>P27328</li><li>P28726</li><li>Q07630</li><li>P27327</li><li>Q3I5J6</li><li>Q9WJB2</li><li>Q66914</li><li>P16342</li><li>Q89273</li><li>P36286</li><li>Q66198</li><li>P19751</li><li>P22168</li><li>Q8V6W7</li><li>P28897</li><li>Q96725</li><li>P19811</li><li>Q91A29</li><li>O29238</li><li>P09395</li><li>P15402</li><li>Q86117</li><li>P09498</li><li>Q86119</li><li>Q58907</li><li>Q83017</li><li>Q97ZF5</li><li>Q8R979</li><li>Q6F598</li><li>Q08582</li><li>Q91AV2</li><li>P17779</li><li>O58530</li><li>O67226</li><li>Q07518</li><li>P95479</li><li>P54634</li><li>Q8ZXT5</li><li>Q9IW06</li><li>Q04544</li><li>Q975P6</li><li>P17965</li><li>Q8V439</li><li>Q91QT2</li><li>Q04561</li><li>P27411</li><li>Q97ZZ8</li><li>P27920</li><li>P27410</li><li>P22591</li><li>P20951</li><li>Q9PYA3</li><li>P15095</li><li>Q9YN02</li><li>P27407</li><li>Q06502</li><li>P18458</li><li>Q05002</li><li>Q9YCB6</li><li>P59641</li><li>Q69014</li><li>Q8B912</li><li>P27409</li><li>Q9YC75</li>		rs34596380	3
Q8IYD8	57697	<ul><li>G->A at 116: Reduces ATPase activity</li><li>K->R at 117: Abolishes ATPase activity</li></ul>	<li>S->F at 175: in dbSNP:rs10138997</li><li>V->L at 878: in dbSNP:rs1367580</li><li>P->A at 1812: in dbSNP:rs3736772</li>			ATPase activity	GO:0016887					<li>rs3736772</li><li>rs1367580</li><li>rs10138997</li>	3
Q8IYM1	124404	<ul><li>G->N at 56: Abolishes binding to GTP and to SEPT11, and also abolishes the ability of SEPT12 to form filamentous structures</li></ul>				binding	GO:0005488			<li>Q3SZN0</li><li>Q9NVA2</li><li>Q5R8U3</li>			1
Q8IYU2	57531	<ul><li>C->S at 876: Loss of E3 ubiquitin ligase activity</li></ul>	<li>R->H at 17: in dbSNP:rs17853353</li><li>I->T at 374: in dbSNP:rs17857038</li>			ligase activity	GO:0016874			<li>P69326</li><li>P08565</li><li>P69322</li><li>P69323</li><li>P69324</li><li>P69325</li><li>P68196</li><li>O46543</li><li>P68197</li><li>Q05550</li><li>P68198</li><li>P68199</li><li>P19848</li><li>P68195</li><li>P42739</li><li>Q867C2</li><li>P62991</li><li>P62990</li><li>P61863</li><li>P61864</li><li>P61862</li><li>Q867C4</li><li>Q867C3</li><li>P23398</li><li>P68204</li><li>P84589</li><li>Q865C5</li><li>P42740</li><li>P68201</li><li>Q8MKD1</li><li>P14792</li><li>P63049</li><li>P0C072</li><li>P63051</li><li>P69308</li><li>P69309</li><li>P20685</li><li>P15174</li><li>P62976</li><li>P62977</li><li>P62974</li><li>P62975</li><li>P62972</li><li>P13117</li><li>P14624</li><li>P62973</li><li>P46574</li><li>P69310</li><li>P69313</li><li>P69314</li><li>P69311</li><li>P69312</li><li>P08618</li><li>P69317</li><li>P69318</li><li>P0C014</li><li>P69315</li><li>P69316</li><li>P59263</li><li>P69319</li><li>P49634</li><li>P49635</li><li>P22589</li><li>Q9Y848</li><li>P62988</li><li>P62989</li><li>P23324</li><li>P69321</li><li>P69320</li><li>P59669</li>		<li>rs17857038</li><li>rs17853353</li>	3
Q8IZ41	158158	<ul><li>S->N at 555: Impairs nucleotide binding and perinuclear localization</li><li>Q->L at 600: Favors GTP association</li></ul>	<li>R->C at 262: in dbSNP:rs4146960</li>	localization	GO:0051179	nucleotide binding	GO:0000166					rs4146960	3
Q8IZE3	57147	<ul><li>GSENS->M at 2-6: No Golgi targeting, accumulates in the cytoplasm</li></ul>	<li>G->A at 597: in dbSNP:rs12143301</li><li>Q->R at 621: in dbSNP:rs4656197</li>					cytoplasm	GO:0005737			<li>rs12143301</li><li>rs4656197</li>	3
Q8IZJ1	219699	<ul><li>D->N at 412: Abolishes cleavage by caspase-3 and subsequent induction of apoptosis</li></ul>	<li>I->V at 242: in dbSNP:rs34957097</li><li>A->T at 516: in dbSNP:rs10509332</li>	induction of apoptosis	GO:0006917							<li>rs10509332</li><li>rs34957097</li>	3
Q8IZL9	23552	<ul><li>T->A at 161: Impairs CDK2 T-160 phosphorylation and activity</li></ul>	<li>S->L at 86: in dbSNP:rs28364953</li><li>S->N at 106: in dbSNP rsrs41286029</li><li>A->T at 137: in dbSNP:rs28364955</li><li>K->R at 281: in dbSNP rsrs28364963</li>	phosphorylation	GO:0016310					<li>P48963</li><li>Q5E9Y0</li><li>P43450</li><li>P24941</li><li>O55076</li>		<li>rs28364953</li><li>rs28364963</li><li>rs41286029</li><li>rs28364955</li>	3
Q8IZW8	84951	<ul><li>D->A at 506: No effect on cleavage by caspase-3</li><li>D->A at 570: Abolishes cleavage by caspase-3</li></ul>	<li>L->P at 179: in dbSNP:rs3764424</li><li>T->K at 327: in dbSNP:rs33923045</li><li>S->N at 498: in dbSNP:rs2290207</li><li>R->C at 642: in a colorectal cancer sample; somatic mutation</li>									<li>rs3764424</li><li>rs2290207</li><li>rs33923045</li>	3
Q8IZY5	414899	<ul><li>L->E at 5: Fails to induce apoptosis</li></ul>		apoptosis	GO:0006915								1
Q8N108	57708	<ul><li>W->A at 238: Loss of transcriptional repression and HDAC1 recruitment activity</li><li>FL->AA at 251-252: Loss of transcriptional repression and HDAC1 recruitment activity</li></ul>								<li>Q13547</li><li>Q94517</li><li>P56517</li><li>P56518</li>			1
Q8N264	83478	<ul><li>R->A at 175: Loss of function</li><li>R->K at 175: Does not abolish the effect on actin stress fibers but moderates its capability to induce membrane protrusions</li></ul>						<li>stress fibers</li><li>membrane</li>	<li>GO:0001725</li><li>GO:0016020</li>	<li>Q92192</li><li>Q92193</li><li>P53499</li><li>P26183</li><li>P53498</li><li>O13419</li><li>Q9P4D1</li><li>P48465</li><li>P53455</li><li>Q39596</li><li>Q39758</li><li>P26182</li><li>P80709</li><li>Q9UVX4</li><li>P78711</li><li>P53689</li><li>O17320</li><li>P30161</li><li>P17128</li><li>P45521</li><li>P81085</li><li>P20904</li><li>P45520</li><li>Q6TCF2</li><li>Q99023</li><li>Q75D00</li><li>P51775</li><li>P10365</li><li>P60011</li><li>P60010</li><li>Q8SWN8</li><li>O16808</li><li>P02577</li><li>P10989</li><li>P68555</li><li>Q05214</li><li>Q8X119</li><li>O65316</li><li>O65315</li><li>O65314</li><li>P53491</li><li>P91754</li><li>P13363</li><li>P11426</li><li>O81221</li><li>Q11212</li><li>P50138</li><li>P53477</li><li>P53476</li><li>P60009</li><li>P53502</li><li>Q2U7A3</li><li>P53500</li><li>Q9UVZ8</li><li>O00937</li><li>P14235</li><li>Q9UVF3</li><li>Q24733</li><li>P90689</li><li>P24902</li><li>O74258</li>			1
Q8N2W9	51588	<ul><li>LL->AA at 23-24: Loss of repression of AR- and STAT1-induced transcription; no effect on AR- and STAT1-binding</li><li>K->R at 35: Complete loss of sumoylation. No enhancement of TCF4 sumoylation. No effect on interaction with TCF4. Colocalizes with SUMO1 in nucleus but concentrated into nuclear granules</li><li>K->R at 128: Some loss of sumoylation</li><li>C->A at 342: Inhibits TCF4 sumoylation. Inhibits beta-catenin-mediated TCF7L2/TCF4 activity. No colocalization with TCF7L2/TCF4 in nuclear puntuate structures; when associated with A-347</li><li>C->A at 347: Inhibits TCF4 sumoylation. Inhibits beta-catenin-mediated TCF7L2/TCF4 activity. No colocalization with TCF7L2/TCF4 in nuclear puntuate structures; when associated with A-342. AR- and STAT1-binding</li></ul>		<li>sumoylation</li><li>transcription</li>	<li>GO:0016925</li><li>GO:0006350</li>	binding	GO:0005488	nucleus	GO:0005634	<li>P15881</li><li>Q2EF74</li><li>P42224</li><li>Q5R6J4</li><li>P55857</li><li>P35223</li><li>P35222</li><li>P63165</li><li>Q9WU82</li><li>P35224</li><li>Q90683</li><li>Q5E9D1</li><li>Q02248</li><li>P15884</li><li>Q764M5</li><li>P26233</li><li>Q9MZD5</li><li>Q9NQB0</li>			1
Q8N370	124935	<ul><li>S->A at 297: Abolishes sensitivity to N-ethymaleimide</li></ul>											1
Q8N3J5	152926	<ul><li>D->A at 298: Loss of activity</li></ul>	<li>N->K at 94: in dbSNP:rs17853762</li><li>E->K at 321: in dbSNP:rs35523553</li>									<li>rs35523553</li><li>rs17853762</li>	3
Q8N474	6422	<ul><li>N->Q at 173: Reduced molecular weight</li><li>N->Q at 263: No effect on molecular weight</li></ul>											1
Q8N4A0	8693	<ul><li>D->H at 459: Affects the glycopeptide specificity and abolishes ability to glycosylate Muc1, Muc2 and Muc5AC</li></ul>	<li>I->T at 270: in dbSNP:rs2230281</li><li>V->I at 506: in dbSNP:rs2230283</li>							<li>Q62635</li><li>Q02496</li>		<li>rs2230281</li><li>rs2230283</li>	3
Q8N4E7	94033	<ul><li>S->A at 204: Increases ferroxidase activity and iron binding</li></ul>				iron binding	GO:0005506			<li>Q61147</li><li>P13635</li><li>P00450</li><li>Q9XT27</li>			1
Q8N4Q1	131474	<ul><li>C->S at 53: Does not strongly affect import and stability of MIA40 in mitochondria; when associated with S-55</li><li>C->S at 55: Does not strongly affect import and stability of MIA40 in mitochondria; when associated with S-53</li><li>C->S at 64: Affects import and stability of MIA40 in mitochondria; when associated with S-74</li><li>C->S at 74: Affects import and stability of MIA40 in mitochondria; when associated with S-64</li><li>C->S at 87: Strongly affects import and stability of MIA40 in mitochondria; when associated with S-97</li><li>C->S at 97: Strongly affects import and stability of MIA40 in mitochondria; when associated with S-87</li></ul>								<li>P36046</li><li>Q2KHZ4</li><li>Q4IK03</li><li>Q6BSK8</li><li>Q757A5</li><li>O94030</li><li>Q6FW26</li><li>Q6CSA1</li><li>Q8N4Q1</li><li>Q4P8D2</li><li>Q5KGA4</li>			1
Q8N4X5	84632	<ul><li>Y->F at 4: Reduced interaction with SRC</li></ul>	<li>G->R at 138: in dbSNP:rs11196689</li><li>S->R at 366: in dbSNP:rs7075067</li><li>T->S at 522: in dbSNP:rs2781806</li><li>E->K at 726: in dbSNP:rs11599051</li>							<li>P00523</li><li>P12931</li>		<li>rs7075067</li><li>rs11599051</li><li>rs2781806</li><li>rs11196689</li>	3
Q8N556	60312	<ul><li>P->A at 71: Decreased tyrosine phosphorylation</li><li>P->A at 77: No effect on tyrosine phosphorylation</li><li>Y->F at 93: Reduces phosphorylation and phosphorylation of SRC at Y-416; when associated with F-94; F-125; F-451 and F-453</li><li>Y->F at 94: Reduces phosphorylation and phosphorylation of SRC at Y-416; when associated with F-93; F-125; F-451 and F-453</li><li>Y->F at 125: Reduces phosphorylation and phosphorylation of SRC at Y-416; when associated with F-93; F-94; F-451 and F-453</li><li>Y->F at 451: Reduces phosphorylation and phosphorylation of SRC at Y-416; when associated with F-93; F-94; F-125 and F-453</li><li>Y->F at 453: Reduces phosphorylation and phosphorylation of SRC at Y-416; when associated with F-93; F-94; F-125 and F-451</li></ul>	<li>S->C at 403: in dbSNP:rs28406288</li><li>V->M at 518: in dbSNP:rs41264705</li>	phosphorylation	GO:0016310					<li>P00523</li><li>P12931</li>		<li>rs41264705</li><li>rs28406288</li>	3
Q8N6P7	58985	<ul><li>K->A at 58: Strongly reduced response to IL22</li><li>Y->A,R at 60: Loss of response to IL22</li></ul>	<li>S->P at 130: in dbSNP:rs34900099</li><li>V->I at 205: in dbSNP:rs16829204</li><li>A->S at 209: in dbSNP:rs34379702</li><li>L->P at 222: in dbSNP:rs34782294</li><li>M->V at 407: in dbSNP:rs35401673</li><li>R->G at 518: in dbSNP:rs3795299</li>							Q9GZX6		<li>rs3795299</li><li>rs35401673</li><li>rs16829204</li><li>rs34900099</li><li>rs34782294</li><li>rs34379702</li>	3
Q8N807	204474	<ul><li>C->A at 135: Does not affect homodimerization; when associated with A-420</li><li>C->A at 420: Does not affect homodimerization; when associated with A-135</li></ul>	<li>A->T at 26: in dbSNP:rs9926580</li><li>E->Q at 106: in a colorectal cancer sample; somatic mutation</li><li>D->N at 446: in dbSNP:rs11648131</li><li>V->I at 447: in dbSNP:rs11865916</li><li>L->R at 475: in dbSNP:rs4500734</li><li>R->K at 527: in dbSNP:rs9652589</li><li>G->E at 529: in dbSNP:rs9652588</li>									<li>rs9652588</li><li>rs9926580</li><li>rs9652589</li><li>rs4500734</li><li>rs11865916</li><li>rs11648131</li>	3
Q8NBJ7	25870	<ul><li>C->A at 156: Abolishes interaction with and inhibition of SUMF1. Can still form homodimers</li><li>C->A at 290: Abolishes interaction with and inhibition of SUMF1. Can still form homodimers</li></ul>	<li>E->D at 51: in dbSNP:rs4245575</li>							Q8NBK3		rs4245575	3
Q8NBK3	285362	<ul><li>S->A at 333: Loss of activity</li><li>S->T at 333: Reduces activity by 99%</li><li>C->S at 336: Loss of activity</li><li>H->A at 337: Reduces activity 5-fold</li><li>Y->F at 340: No effect</li><li>C->S at 341: Loss of activity</li></ul>	<li>L->F at 20: in MSD; loss of activity, MIM: 272200</li><li>S->N at 63: in dbSNP:rs2819590, MIM: 272200</li><li>S->P at 155: in MSD; loss of activity, MIM: 272200</li><li>A->P at 177: in MSD; loss of activity; decreases its specific enzyme activity to less than 1%; does not affect localization of the protein in the endoplasmic reticulum of MSD fibroblasts; protein stability is almost comparable to wild-type, MIM: 272200</li><li>W->S at 179: in MSD; decreases its specific enzyme activity to less than 3%; does not affect localization of the protein in the endoplasmic reticulum of MSD fibroblasts; protein stability is almost comparable to wild-type, MIM: 272200</li><li>C->Y at 218: in MSD; loss of activity, MIM: 272200</li><li>R->W at 224: in MSD; loss of activity, MIM: 272200</li><li>N->I at 259: in MSD; loss of activity, MIM: 272200</li><li>P->L at 266: in MSD; retains some activity, MIM: 272200</li><li>A->V at 279: in MSD; loss of activity; decreases its specific enzyme activity to about 23%; does not affect localization of the protein in the endoplasmic reticulum of MSD fibroblasts; protein stability is decreased, MIM: 272200</li><li>C->R at 336: in MSD; loss of activity, MIM: 272200</li><ul><li>C->S at 336: Loss of activity</li></ul><li>R->C at 345: in MSD; retains some activity, MIM: 272200</li></ul><li>A->P at 348: in MSD; loss of activity, MIM: 272200</li></ul><li>R->Q at 349: in MSD; loss of activity, MIM: 272200</li></ul><li>R->W at 349: in MSD; loss of activity; decreases its specific enzyme activity to less than 1%; does not affect localization of the protein in the endoplasmic reticulum of MSD fibroblasts; protein stability is severely decreased, MIM: 272200</li></ul>	localization	GO:0051179			endoplasmic reticulum	GO:0005783		Multiple sulfatase deficiency (MSD) [MIM:272200]	rs2819590	4
Q8NBP7	255738	<ul><li>C->A at 67: Does not affect multimerization or zymogen processing</li><li>H->A at 226: Remains in the endoplasmic reticulum and is not secreted</li><li>N->A at 533: 1.5 kDa decrease of the apparent molecular mass of pro-PCSK9 and PCSK9 and no effect on processing and secretion</li></ul>	<li>L->LL at 23</li><li>R->L at 46: polymorphism associated with lower plasma levels of low-density lipoprotein cholesterol; dbSNP:rs28362263: in dbSNP rsrs11591147</li><li>A->V at 53: in dbSNP:rs11583680</li><li>E->K at 57</li><li>S->R at 127: in FH3: in dbSNP rsrs28942111, MIM: 603776</li><li>F->L at 216: in FH3: in dbSNP rsrs28942112, MIM: 603776</li><li>R->W at 237, MIM: 603776</li><li>L->F at 253: polymorphism associated with lower plasma levels of low-density lipoprotein cholesterol; dbSNP:rs28362270, MIM: 603776</li><li>H->N at 391, MIM: 603776</li><li>H->Q at 417, MIM: 603776</li><li>N->S at 425: in dbSNP:rs28362261, MIM: 603776</li><li>A->T at 443: polymorphism associated with lower plasma levels of low-density lipoprotein cholesterol: in dbSNP rsrs28362263, MIM: 603776</li><li>R->W at 469, MIM: 603776</li><li>I->V at 474: in dbSNP:rs562556, MIM: 603776</li><li>E->G at 482, MIM: 603776</li><li>F->L at 515, MIM: 603776</li><li>H->R at 553: polymorphism associated with higher plasma levels of low-density lipoprotein cholesterol: in dbSNP rsrs28362270, MIM: 603776</li><li>Q->E at 554, MIM: 603776</li><li>Q->P at 619: in dbSNP:rs28362277, MIM: 603776</li><li>E->G at 670: in dbSNP:rs505151, MIM: 603776</li>	secretion	GO:0046903			endoplasmic reticulum	GO:0005783	<li>Q9S818</li><li>P80571</li><li>Q8NBP7</li>	Familial hypercholesterolemia 3 (FH3) [MIM:603776]	<li>rs28362270</li><li>rs28942112</li><li>rs11591147</li><li>rs562556</li><li>rs28942111</li><li>rs28362277</li><li>rs28362263</li><li>rs28362261</li><li>rs11583680</li><li>rs505151</li>	3
Q8NCD3	55355	<ul><li>S->A at 486: Loss of phosphorylation by AKT1 and binding to YWHAG</li></ul>		phosphorylation	GO:0016310	binding	GO:0005488			<li>P68253</li><li>P68252</li><li>Q5RC20</li><li>Q38998</li><li>Q01314</li><li>P61981</li><li>P31749</li><li>Q8VYX2</li><li>Q5F3W6</li>			1
Q8NCE2	64419	<ul><li>C->S at 330: Drastically reduced enzymatic activity</li></ul>	<li>R->Q at 336: in a ADCNM patient; drastically reduced enzymatic activity</li><li>Y->C at 462: in a ADCNM patient; reduced enzymatic activity</li>										3
Q8NCG7	221955	<ul><li>S->A at 443: Loss of activity</li><li>D->A at 495: Loss of activity</li></ul>	<li>Q->R at 664: in dbSNP:rs2303361</li>									rs2303361	3
Q8ND25	84937	<ul><li>C->A at 184: Loss of E3 activity</li></ul>											1
Q8NEJ0	150290	<ul><li>D->A at 73: Abolishes most of in vitro phosphatase activity</li><li>L->V at 102: No effect on in vitro phosphatase activity</li><li>C->S at 104: Abolishes most of in vitro phosphatase activity</li><li>R->K at 110: Abolishes most of in vitro phosphatase activity</li><li>S->A at 111: Abolishes most of in vitro phosphatase activity</li></ul>								<li>Q7M7K5</li><li>Q5X1E5</li><li>Q7MAZ9</li><li>Q8XBL4</li><li>Q7MBF4</li><li>Q5P3T0</li><li>Q88A53</li><li>Q5PC82</li><li>Q8Z3M9</li><li>Q821A6</li><li>Q5ZRX9</li><li>Q87SK9</li><li>Q9JZ88</li><li>Q9CP21</li><li>Q82U82</li><li>Q9I5V3</li><li>Q5F8K9</li><li>Q63YC3</li><li>Q8Y395</li><li>Q6LV05</li><li>Q8ZLY4</li><li>Q6FA38</li><li>Q9PDL7</li><li>Q62EU1</li><li>Q9JUB2</li><li>Q5WT58</li><li>Q665U9</li><li>Q57JQ5</li><li>Q9KPC6</li><li>Q8CWL6</li><li>Q8P5D4</li><li>Q8PPG9</li><li>P06961</li><li>P45269</li><li>Q88QU2</li><li>Q9L7A3</li><li>Q6D160</li><li>Q87DS9</li><li>Q60CQ4</li><li>Q8ZI64</li><li>Q65Q41</li><li>Q5E2K7</li><li>Q8CXX6</li>			1
Q8NER1	7442	<ul><li>Y->A at 511: Loss of sensitivity to capsaicin</li><li>T->I at 550: Reduces sensitivity to capsaicin 40-fold</li></ul>	<li>I->V at 585: in dbSNP rsrs8065080</li>									rs8065080	3
Q8NER5	130399	<ul><li>T->D at 194: Pro-apoptotic</li><li>K->R at 222: Loss of response to NODAL and SMAD2 phosphorylation</li></ul>	<li>I->T at 195: in dbSNP rsrs56188432</li><li>G->R at 216: in dbSNP rsrs34742924</li><li>W->R at 267: in a lung squamous cell carcinoma sample; somatic mutation</li><li>I->V at 355: in dbSNP rsrs35500979</li><li>I->V at 482: in dbSNP:rs7594480</li>	phosphorylation	GO:0016310					<li>Q15796</li><li>Q96S42</li><li>Q1W668</li>		<li>rs7594480</li><li>rs34742924</li><li>rs56188432</li><li>rs35500979</li>	3
Q8NET5	150372	<ul><li>Y->A,F at 220: Abolishes the ITAM-mediated-activating activity</li><li>Y->A,F at 231: Abolishes the ITAM-mediated-activating activity</li></ul>	<li>H->Y at 137: in dbSNP:rs34296033</li><li>N->K at 187: in dbSNP:rs17003048</li>									<li>rs34296033</li><li>rs17003048</li>	3
Q8NF91	23345	<ul><li>Missing at 8758-8763: Abolishes the nuclear envelope targeting, induces a cytoplasmic localization</li></ul>	<li>V->M at 3671: in a colorectal cancer sample; somatic mutation</li><li>E->D at 4210: in a colorectal cancer sample; somatic mutation</li><li>R->H at 4223: in a colorectal cancer sample; somatic mutation</li><li>L->R at 5507: in a colorectal cancer sample; somatic mutation</li><li>A->G at 8323: in dbSNP:rs2252755</li><li>R->H at 8468: in a colorectal cancer sample; somatic mutation</li>	localization	GO:0051179			nuclear envelope	GO:0005635			rs2252755	3
Q8NFA2	124056	<ul><li>R->Q at 40: Loss of ability to activate NOX1 associated with loss of lipid-binding and plasma membrane localization</li><li>W->R at 202: Loss of ability to activate NOX3 and interact with CYBA. Induces interaction with NOXA1 in vitro</li><li>W->R at 274: Induces interaction with NOXA1 in vitro</li><li>P->A at 332: Loss of intramolecular interaction</li><li>R->A at 334: Loss of intramolecular interaction</li></ul>		localization	GO:0051179	lipid-binding	GO:0008289	plasma membrane	GO:0005886	<li>Q95MN4</li><li>P52650</li><li>Q9Y5S8</li><li>P13498</li><li>Q95L73</li><li>Q9N2H0</li><li>Q9HBY0</li><li>O46521</li>			1
Q8NFU5	253430	<ul><li>RK->QQ at 322-323: Interferes with nuclear localization</li><li>KK->QQ at 327-328: Interferes with nuclear localization</li></ul>	<li>M->I at 349: in dbSNP:rs2275443</li>	localization	GO:0051179							rs2275443	3
Q8NG08	92797	<ul><li>K->A at 481: No ATPase activity</li><li>E->Q at 591: No ATPase activity</li></ul>	<li>E->K at 172: in dbSNP:rs35605829</li><li>L->P at 191: in dbSNP:rs4430553</li><li>L->F at 267: in dbSNP:rs35138454</li><li>P->L at 966: in dbSNP:rs1185244</li><li>T->I at 980: in dbSNP:rs1168312</li>			ATPase activity	GO:0016887					<li>rs4430553</li><li>rs1185244</li><li>rs1168312</li><li>rs35138454</li><li>rs35605829</li>	3
Q8NG50	201299	<ul><li>RHK->AAA at 98-100: Reduces its nuclear and nucleolar accumulation. Increases its cytoplasmic accumulation</li><li>YYF->AAA at 120-122: Does not affect its subcellular distribution</li></ul>	<li>H->R at 32: in dbSNP:rs2280786</li><li>C->W at 127: in dbSNP:rs2251660</li>									<li>rs2280786</li><li>rs2251660</li>	3
Q8NG66	79858	<ul><li>K->R at 61: Loss of kinase activity</li></ul>	<li>T->M at 108: in a colorectal adenocarcinoma sample; somatic mutation</li><li>Y->C at 123: in dbSNP rsrs55806123</li><li>S->L at 213: in dbSNP rsrs55920129</li><li>I->V at 263: in dbSNP rsrs35567155</li><li>E->K at 451: in dbSNP rsrs35409692</li><li>V->E at 488: in dbSNP:rs3738000</li><li>E->K at 492: in a colorectal adenocarcinoma sample; somatic mutation</li><li>M->T at 548: in dbSNP rsrs55813244</li><li>V->A at 562: in dbSNP:rs16836266</li><li>E->K at 606: in dbSNP rsrs55944737</li><li>D->N at 617: in a colorectal adenocarcinoma sample; somatic mutation</li>			kinase activity	GO:0016301					<li>rs3738000</li><li>rs55813244</li><li>rs55806123</li><li>rs35567155</li><li>rs55944737</li><li>rs16836266</li><li>rs35409692</li><li>rs55920129</li>	3
Q8NHL6	10859	<ul><li>Y->F at 533: Impairs receptor phosphorylation and abolishes inhibition of serotonin release. No effect on PTPN6 binding; when associated with F-562</li><li>Y->F at 562: No effect on PTPN6 binding; when associated with F-533</li><li>Y->F at 614: No effect on PTPN6 binding. Abolishes PTPN6 binding; when associated with F-644</li><li>Y->F at 644: Reduces PTPN6 binding. Abolishes PTPN6 binding; when associated with F-614</li></ul>	<li>L->P at 68: in dbSNP:rs1061679</li><li>A->T at 93: in dbSNP:rs12460501</li><li>I->T at 142: in dbSNP:rs1061680</li><li>S->I at 155: in dbSNP:rs1061681</li><li>L->F at 620: in dbSNP:rs634222</li>	phosphorylation	GO:0016310	binding	GO:0005488			P29350		<li>rs634222</li><li>rs1061680</li><li>rs12460501</li><li>rs1061681</li><li>rs1061679</li>	3
Q8NHW3	389692	<ul><li>S->A at 14: Abolishes transactivation activity; when associated with A-65</li><li>S->A at 49: Diminishes transcriptional activity and transforming activity and abolishes ubiquitination; when associated with A-53; A-57 and A-61</li><li>T->A at 53: Diminishes transcriptional activity and transforming activity and abolishes ubiquitination; when associates with A-49; A-57 and A-61</li><li>T->A at 57: Diminishes transcriptional activity and transforming activity and abolishes ubiquitination; when associates with A-49; A-53 and A-61</li><li>S->A at 61: Diminishes transcriptional activity and transforming activity and abolishes ubiquitination; when associated with A-49; A-53 and A-57</li><li>S->A at 65: Greatly reduces phosphorylation and reduces transcriptional activity; when associated with A-14</li></ul>		phosphorylation	GO:0016310								1
Q8NHY2	64326	<ul><li>RKR->AKA at 111-113: Abolishes localization to the nucleus</li><li>C->A at 136: Abolishes p53 ubiquitination and degradation but not that of JUN; when associated with A-139</li><li>C->A at 139: Abolishes p53 ubiquitination and degradation but not that of JUN; when associated with A-136</li></ul>		localization	GO:0051179			nucleus	GO:0005634	<li>Q9TUB2</li><li>P02340</li><li>P56423</li><li>P56424</li><li>O12946</li><li>P05411</li><li>Q42578</li><li>O57538</li><li>P61260</li><li>O77627</li><li>P10361</li><li>Q9W679</li><li>Q9W678</li><li>Q9TTA1</li><li>P18870</li><li>P12981</li><li>P19559</li><li>O93379</li><li>P19558</li><li>Q8SPZ3</li><li>P79820</li><li>Q92143</li><li>P54864</li><li>P04637</li><li>Q29537</li><li>P05412</li><li>O09185</li><li>P56432</li><li>P79892</li>			1
Q8NI08	135112	<ul><li>LNIHEDL->ANAHED at 511-517: No action on the E2-induced ESR1 binding</li><li>LI->AA at 522-523: Abolishes completely the E2-induced ESR1 binding</li></ul>	<li>S->A at 399: in dbSNP:rs6919947</li><li>G->R at 533: in dbSNP:rs35223550</li><li>D->E at 942: in dbSNP:rs1567</li>			<li>binding</li><li>E2</li>	<li>GO:0005488</li><li>GO:0004840</li>			<li>Q9TV98</li><li>Q9QZJ5</li><li>P49884</li><li>Q91424</li><li>Q91250</li><li>Q29040</li><li>P38111</li><li>Q9YHT3</li><li>P50242</li><li>P50241</li><li>P03372</li><li>P16058</li><li>P50240</li><li>Q9PVZ9</li><li>Q9YH33</li><li>P06212</li><li>P57753</li><li>P49885</li><li>Q53AD2</li><li>P49886</li><li>O42132</li><li>Q9YHZ7</li>		<li>rs6919947</li><li>rs1567</li><li>rs35223550</li>	3
Q8NI17	133396	<ul><li>Y->A at 639: No effect on STAT1 and STAT3 activation. Slight decrease; when associated with A-670 and A-708</li><li>Y->F at 639: Abrogates STAT5 activation. Mild effect on STAT1 activation. No effect on STAT3 activation</li><li>Y->A at 670: No effect on STAT1 and STAT3 activation. Slight decrease; when associated with A-639 and A-708</li><li>Y->F at 670: No effect on STAT3 and STAT5 activation. Mild effect on STAT1 activation</li><li>Y->A at 708: No effect on STAT1 and STAT3 activation. Slight decrease; when associated with A-639 and A-670</li><li>Y->F at 708: Abrogates STAT3 activation. Loss of interaction with STAT3. Mild effect on STAT1 activation. No effect on STAT5 activation</li></ul>	<li>D->N at 155: in dbSNP:rs13184107</li><li>S->N at 497: in dbSNP:rs161704</li>							<li>P42224</li><li>P42231</li><li>P61635</li><li>Q764M5</li><li>P40763</li><li>P42229</li>		<li>rs13184107</li><li>rs161704</li>	3
Q8NI35	10207	<ul><li>L->W at 19: Reduces L27 domain binding affinity to MPP5 L27 domain</li><li>F->W at 38: Reduces L27 domain binding affinity to MPP5 L27 domain</li></ul>	<li>G->R at 303: in dbSNP:rs3762321</li><li>E->A at 362: in dbSNP:rs1286823</li><li>I->V at 400: in dbSNP:rs7516332</li><li>Q->H at 599: in dbSNP:rs1286812</li><li>C->R at 744: in dbSNP:rs1134764</li><li>E->K at 779: in dbSNP:rs12141598</li><li>E->K at 780: in dbSNP:rs12141599</li><li>I->M at 870: in dbSNP:rs2799627</li><li>G->S at 1178: in dbSNP:rs1056513</li><li>R->H at 1282: in dbSNP:rs1134767</li><li>V->L at 1360: in dbSNP:rs2498982</li><li>A->P at 1504: in dbSNP:rs13376115</li>			binding	GO:0005488			<li>Q5RDQ2</li><li>Q99546</li><li>Q8N3R9</li>		<li>rs1056513</li><li>rs2498982</li><li>rs1134767</li><li>rs7516332</li><li>rs13376115</li><li>rs3762321</li><li>rs1134764</li><li>rs1286823</li><li>rs12141598</li><li>rs12141599</li><li>rs1286812</li><li>rs2799627</li>	3
Q8TAI7	121268	<ul><li>N->A at 41: Partially impaired in RPS6K1 activation</li><li>F->A at 54: Partially deficient in guanine nucleotide binding</li><li>L->A at 56: Partially deficient in guanine nucleotide binding</li><li>D->K at 60: Significant decrease in NF-kappa B activation</li><li>Q->L at 64: Constitutively active</li></ul>				nucleotide binding	GO:0000166						1
Q8TAS1	127933	<ul><li>K->A at 54: Loss of kinase activity</li></ul>	<li>L->V at 159: in dbSNP:rs34466082</li><li>Y->D at 197: in dbSNP rsrs56201055</li>			kinase activity	GO:0016301					<li>rs56201055</li><li>rs34466082</li>	3
Q8TBC4	9039	<ul><li>F->G at 65: Reduces affinity for UBE2M</li><li>I->A at 148: No effect on NEDD8 adenylation</li><li>HI->AA at 160-161: Reduces affinity for UBE2M</li><li>D->A at 167: Abolishes NEDD8 adenylation</li><li>P->A at 192: Reduces affinity for UBE2M; when associated with A-195 and A-197</li><li>I->A at 195: Reduces affinity for UBE2M; when associated with A-192 and A-197</li><li>P->A at 197: Reduces affinity for UBE2M; when associated with A-192 and A-195</li><li>R->Q at 211: Abolishes specificity for NEDD8</li><li>L->A at 214: Reduces affinity for UBE2M; when associated with A-217</li><li>M->A at 217: Reduces affinity for UBE2M; when associated with A-214</li><li>LY->DD at 227-228: Strongly reduces NEDD8 adenylation</li><li>C->S at 237: Abolishes thioester intermediate formation</li><li>T->A at 238: No effect on NEDD8 adenylation; impairs thioester intermediate formation</li><li>I->A at 310: No effect on NEDD8 adenylation or thioester intermediate formation; impairs NEDD8 transfer to UBE2M</li><li>I->A at 331: Reduces affinity for UBE2M</li><li>YTYTFE->ATATA at 352-357: Abolishes NEDD8 adenylation</li><li>S->P at 368: Impairs NEDD8 transfer to UBE2M</li><li>Q->P at 369: No effect on NEDD8 transfer to UBE2M</li><li>L->P at 370: Impairs NEDD8 transfer to UBE2M</li><li>T->A at 412: Impairs NEDD8 transfer to UBE2M</li><li>L->A at 415: Impairs NEDD8 transfer to UBE2M</li><li>V->A at 418: Impairs NEDD8 transfer to UBE2M</li><li>I->A at 421: Impairs NEDD8 transfer to UBE2M</li><li>R->A at 424: No effect on NEDD8 transfer to UBE2M</li></ul>	<li>K->R at 9: in dbSNP:rs17852113</li>							<li>Q15843</li><li>P61081</li><li>Q9SHE7</li><li>P0C031</li><li>P0C030</li><li>Q4PLJ0</li><li>P61282</li><li>P0C032</li>		rs17852113	3
Q8TCJ0	26260	<ul><li>S->L at 244: Loss of SKP1 binding</li></ul>	<li>N->D at 36: in dbSNP:rs17665340</li>			binding	GO:0005488			<li>Q39255</li><li>P52286</li><li>P63208</li>		rs17665340	3
Q8TCT1	162466	<ul><li>D->N at 32: Abolishes phosphatase activity</li><li>D->N at 43: Strongly reduces reactivity toward PEA and PCho substrates. Abolishes phosphatase activity; when associated with N-123</li><li>D->N at 123: Strongly reduces reactivity toward PEA and PCho substrates. Abolishes phosphatase activity; when associated with N-43</li><li>D->S at 203: Abolishes phosphatase activity</li></ul>								<li>P0C1A8</li><li>Q7M7K5</li><li>Q5X1E5</li><li>P0C1A9</li><li>Q7MAZ9</li><li>Q8XBL4</li><li>Q7MBF4</li><li>Q5P3T0</li><li>Q88A53</li><li>Q5PC82</li><li>Q8Z3M9</li><li>Q821A6</li><li>Q5ZRX9</li><li>Q87SK9</li><li>Q9JZ88</li><li>Q9CP21</li><li>Q82U82</li><li>Q9I5V3</li><li>Q5F8K9</li><li>Q63YC3</li><li>Q8Y395</li><li>Q6LV05</li><li>Q8ZLY4</li><li>Q6FA38</li><li>Q62EU1</li><li>Q9PDL7</li><li>Q9JUB2</li><li>Q5WT58</li><li>Q665U9</li><li>Q57JQ5</li><li>Q9KPC6</li><li>Q8CWL6</li><li>Q8P5D4</li><li>Q8PPG9</li><li>P06961</li><li>P45269</li><li>Q88QU2</li><li>Q9L7A3</li><li>Q6D160</li><li>Q87DS9</li><li>Q60CQ4</li><li>Q8ZI64</li><li>Q65Q41</li><li>Q5E2K7</li><li>Q8CXX6</li>			1
Q8TCT7	56928	<ul><li>D->A at 421: Loss of catalytic activity toward ITM2B</li></ul>				catalytic activity	GO:0003824			<li>Q60HC1</li><li>O42204</li><li>Q9Y287</li><li>Q3T0P7</li><li>Q5R876</li>			1
Q8TCT8	84888	<ul><li>D->A at 412: Loss of catalytic activity toward ITM2B</li></ul>	<li>V->I at 90: in dbSNP:rs8034443</li>			catalytic activity	GO:0003824			<li>Q60HC1</li><li>O42204</li><li>Q9Y287</li><li>Q3T0P7</li><li>Q5R876</li>		rs8034443	3
Q8TCT9	81502	<ul><li>N->Q at 10: Abolishes N-glycosylation; when associated with Q-20</li><li>N->Q at 20: Abolishes N-glycosylation; when associated with Q-10</li><li>D->A at 265: No effect on inhibitor binding; abolishes catalytic activity</li></ul>	<li>A->P at 259: in dbSNP:rs1044419</li>			<li>binding</li><li>catalytic activity</li>	<li>GO:0005488</li><li>GO:0003824</li>					rs1044419	3
Q8TD08	225689	<ul><li>K->R at 42: Loss of autophosphorylation and activity</li><li>T->A at 175: Loss of autophosphorylation and activity</li><li>Y->A at 177: Loss of autophosphorylation and activity</li></ul>		autophosphorylation	GO:0046777								1
Q8TD19	91754	<ul><li>K->M at 81: Loss of activity and autophosphorylation</li><li>T->A at 210: Significant reduction of autophosphorylation</li><li>T->A at 214: No effect on autophosphorylation</li></ul>	<li>R->H at 429: in dbSNP:rs10146482</li><li>P->T at 828: in dbSNP rsrs36014869</li><li>P->S at 870: in a lung neuroendocrine carcinoma sample; somatic mutation</li>	autophosphorylation	GO:0046777							<li>rs10146482</li><li>rs36014869</li>	3
Q8TD43	54795	<ul><li>L->A,C at 275: Abolishes ability to restore sensitivity to Ca(2+) after desensitization</li><li>I->N at 278: No effect</li><li>D->N at 279: No effect</li><li>G->A at 324: No effect</li><li>G->A at 325: Abolishes ability to restore sensitivity to Ca(2+) after desensitization</li><li>R->A at 327: No effect</li><li>Q->E at 977: Alters the monovalent cation permeability sequence and results in a pore with moderate Ca(2+) permeability</li><li>EDMDVA->TIIDGP at 981-986: Induces a functional channel that combines the gating hallmarks of TRPM4 (activation by Ca(2+)) with TRPV6-like sensitivity to block by extracellular Ca(2+) and Mg(2+) as well as Ca(2+) permeation</li><li>E->A at 981: Results in a channel with normal permeability properties but with a reduced sensitivity to block by intracellular spermine</li><li>D->A at 982: Results in a functional channel that exhibits extremely fast desensitization, possibly indicating destabilization of the pore</li><li>D->A at 984: Results in a non-functional channel with a dominant negative phenotype</li><li>K->Q at 1059: Does not affect PIP2-binding</li><li>R->Q at 1072: Does not affect PIP2-binding</li><li>Missing at 1136-1141: Results in a channel with very rapid desensitization and highly reduced sensitivity to PIP2</li><li>S->A at 1145: Decreases the sensitivity to Ca(2+)</li><li>S->A at 1152: Decreases the sensitivity to Ca(2+)</li></ul>				binding	GO:0005488	<li>intracellular</li><li>pore</li><li>extracellular</li>	<li>GO:0005622</li><li>GO:0046930</li><li>GO:0005576</li>	<li>Q9H1D0</li><li>P52960</li><li>Q8TD43</li><li>P52488</li>			1
Q8TDC3	84446	<ul><li>K->A at 75: Loss of kinase activity</li><li>T->A at 205: Prevents phosphorylation and activation by STK11 complex</li></ul>	<li>R->W at 319: in a gastric adenocarcinoma sample; somatic mutation</li><li>V->I at 335: in a lung large cell carcinoma sample; somatic mutation</li><li>G->E at 407: in a metastatic melanoma sample; somatic mutation</li><li>T->N at 547</li><li>G->S at 765</li><li>P->A at 780</li>	phosphorylation	GO:0016310	kinase activity	GO:0016301			<li>Q15831</li><li>Q0GGW5</li>			3
Q8TDF6	115727	<ul><li>F->S at 548: Loss of cell membrane targeting</li></ul>	<li>T->I at 18: in dbSNP:rs892055</li><li>Q->L at 120</li><li>V->A at 145</li><li>R->C at 261</li><li>R->G at 335</li>					cell membrane	GO:0005886			rs892055	3
Q8TDG4	113510	<ul><li>K->M at 365: Abolishes ATPase and DNA helicase activity</li></ul>	<li>D->N at 565: in a breast cancer sample; somatic mutation</li>							<li>Q8V736</li><li>O67037</li><li>Q9UZ86</li><li>Q68772</li><li>O51934</li><li>P74759</li><li>P37987</li><li>P22657</li><li>Q04575</li><li>Q971T7</li><li>P27328</li><li>P28726</li><li>Q07630</li><li>P27327</li><li>Q3I5J6</li><li>Q9WJB2</li><li>Q66914</li><li>P16342</li><li>Q89273</li><li>P36286</li><li>Q66198</li><li>P19751</li><li>P22168</li><li>Q8V6W7</li><li>P28897</li><li>Q96725</li><li>P19811</li><li>Q91A29</li><li>O29238</li><li>P09395</li><li>P15402</li><li>Q86117</li><li>P09498</li><li>Q86119</li><li>Q58907</li><li>Q83017</li><li>Q97ZF5</li><li>Q8R979</li><li>Q6F598</li><li>Q08582</li><li>Q91AV2</li><li>P17779</li><li>O58530</li><li>O67226</li><li>Q07518</li><li>P95479</li><li>P54634</li><li>Q8ZXT5</li><li>Q9IW06</li><li>Q04544</li><li>Q975P6</li><li>P17965</li><li>Q8V439</li><li>Q91QT2</li><li>Q04561</li><li>P27411</li><li>Q97ZZ8</li><li>P27920</li><li>P27410</li><li>P22591</li><li>P20951</li><li>Q9PYA3</li><li>P15095</li><li>Q9YN02</li><li>P27407</li><li>Q06502</li><li>P18458</li><li>Q05002</li><li>Q9YCB6</li><li>P59641</li><li>Q69014</li><li>Q8B912</li><li>P27409</li><li>Q9YC75</li>			3
Q8TDQ1	146722	<ul><li>Y->F at 205: No interaction with PTPN6</li><li>Y->F at 249: Interaction with PTPN6</li><li>Y->F at 284: Interaction with PTPN6</li></ul>	<li>A->V at 19: in dbSNP:rs35489971</li><li>R->Q at 218: in dbSNP:rs2034310</li>							P29350		<li>rs2034310</li><li>rs35489971</li>	3
Q8TDR2	140901	<ul><li>K->M at 98: No autophosphorylation</li></ul>		autophosphorylation	GO:0046777								1
Q8TEK3	84444	<ul><li>GSG->RCR at 163-165: Abolishes methyltransferase activity</li><li>N->A,D at 241: Loss of activity</li><li>Y->A at 312: Loss of activity</li><li>Y->F at 312: No effect</li></ul>	<li>L->M at 726: in dbSNP:rs880525</li><li>G->S at 1386: in dbSNP:rs3815308</li><li>V->L at 1418: in dbSNP:rs2302061</li>							<li>Q00020</li><li>P03588</li><li>P03589</li><li>Q83270</li><li>P28931</li><li>P06011</li><li>P17769</li><li>P20122</li><li>Q66121</li><li>O40976</li><li>P28726</li><li>P27752</li><li>Q83264</li>		<li>rs2302061</li><li>rs880525</li><li>rs3815308</li>	3
Q8TEW0	56288	<ul><li>Y->F at 1127: Delayed epithelial tight junction assembly</li></ul>	<li>E->D at 107: in dbSNP:rs1436731</li><li>D->N at 575: in dbSNP:rs3758459</li>					tight junction	GO:0005923			<li>rs1436731</li><li>rs3758459</li>	3
Q8TEY5	148327	<ul><li>R->G at 335: Abolishes cleavage by SP1</li></ul>	<li>P->S at 95: in dbSNP:rs11264743</li>							<li>P08047</li><li>P09179</li><li>Q9DF68</li>		rs11264743	3
Q8TF30	123720	<ul><li>W->A at 807: Decreases nucleation-promoting factor activity and Arp2/3 complex activation</li></ul>	<li>Q->K at 340: in dbSNP:rs1055666</li><li>R->Q at 345: in dbSNP:rs1055667</li><li>R->H at 686: in dbSNP:rs3814281</li><li>H->P at 736: in dbSNP:rs11259953</li><li>H->Q at 736: in dbSNP:rs11259954</li>							<li>P61161</li><li>Q9R045</li><li>Q5M7U6</li><li>Q9UUJ1</li>		<li>rs3814281</li><li>rs11259953</li><li>rs1055666</li><li>rs11259954</li><li>rs1055667</li>	3
Q8WTP8	64782	<ul><li>D->A at 114: Abolishes exonuclease activity; when associated with A-116 and A-258</li><li>E->A at 116: Abolishes exonuclease activity; when associated with A-114 and A-258</li><li>D->A at 258: Abolishes exonuclease activity; when associated with A-114 and A-116</li></ul>	<li>P->L at 15: in dbSNP:rs3743477</li><li>S->C at 88: in dbSNP:rs8026929</li><li>D->N at 140: in dbSNP:rs8027765</li>							<li>P20321</li><li>P00638</li><li>P03697</li>		<li>rs8026929</li><li>rs3743477</li><li>rs8027765</li>	3
Q8WTS6	80854	<ul><li>E->A at 220: Increases near-attack conformations</li><li>E->A at 228: Increases near-attack conformations</li><li>Y->A at 245: Significantly reduces the monomethyltransferase activity but increases the dimethyltransferase activity</li><li>K->A at 294: Significantly reduces the catalytic activity</li><li>H->A,G at 297: Abolishes methyltransferase activity</li><li>K->A at 317: Induces a reduction in methyltransferase activity toward TAF10 but an increased methyltransferase activity for H3 and p53/TP53</li></ul>				catalytic activity	GO:0003824			<li>Q9TUB2</li><li>P03588</li><li>P03589</li><li>P28726</li><li>O36006</li><li>O57538</li><li>P10360</li><li>P10361</li><li>Q9W679</li><li>Q00020</li><li>Q9W678</li><li>Q9TTA1</li><li>Q95330</li><li>Q8SPZ3</li><li>Q92143</li><li>P79820</li><li>Q66121</li><li>P04637</li><li>Q00366</li><li>P51664</li><li>P67939</li><li>Q9WUR6</li><li>P67938</li><li>P02340</li><li>P56423</li><li>P56424</li><li>O12946</li><li>P25035</li><li>Q12962</li><li>Q42578</li><li>Q64662</li><li>Q12030</li><li>P61260</li><li>P13481</li><li>Q83270</li><li>P28931</li><li>P19559</li><li>O93379</li><li>P06011</li><li>P19558</li><li>P41685</li><li>P17769</li><li>P20122</li><li>Q29537</li><li>Q29480</li><li>O40976</li><li>O09185</li><li>P79892</li><li>P27752</li><li>Q83264</li>			1
Q8WUM9	6574	<ul><li>DTGDVSSKV->KQEA at 550-558: Loss of virus infectibility</li><li>D->K at 550: Drastic reduction of virus infectibility, but conserved virus binding ability</li><li>Missing at 550: Loss of virus infectibility</li></ul>				binding	GO:0005488						1
Q8WUP2	54751	<ul><li>KR->TG at 7-8: Localizes to cell-ECM adhesions; abolishes FLNA and FLNC interactions; failed to decorate actin filaments</li></ul>	<li>R->C at 39: in dbSNP:rs34375304</li><li>S->F at 191: in dbSNP:rs10927851</li>							<li>Q92192</li><li>Q92193</li><li>P53499</li><li>P26183</li><li>P53498</li><li>O13419</li><li>Q9P4D1</li><li>P48465</li><li>P53455</li><li>Q39596</li><li>Q39758</li><li>P26182</li><li>P80709</li><li>Q9UVX4</li><li>P78711</li><li>P53689</li><li>O17320</li><li>P30161</li><li>P17128</li><li>P45521</li><li>P81085</li><li>P20904</li><li>P45520</li><li>Q6TCF2</li><li>Q99023</li><li>Q75D00</li><li>P51775</li><li>P10365</li><li>P60011</li><li>P60010</li><li>Q8SWN8</li><li>O16808</li><li>P02577</li><li>P21333</li><li>P10989</li><li>P68555</li><li>Q05214</li><li>Q8X119</li><li>O65316</li><li>O65315</li><li>O65314</li><li>P53491</li><li>P91754</li><li>P13363</li><li>Q13201</li><li>P11426</li><li>O81221</li><li>Q11212</li><li>P50138</li><li>P53477</li><li>P53476</li><li>P60009</li><li>P53502</li><li>Q2U7A3</li><li>P53500</li><li>Q9UVZ8</li><li>O00937</li><li>P14235</li><li>Q9UVF3</li><li>Q24733</li><li>P90689</li><li>P24902</li><li>Q14315</li><li>O74258</li>		<li>rs10927851</li><li>rs34375304</li>	3
Q8WV28	29760	<ul><li>Y->F at 72: Significant phosphorylation reduction; when associated with F-84; F-96 and F-178</li><li>Y->F at 84: Significant phosphorylation reduction; when associated with F-72; F-96 and F-178</li><li>Y->F at 96: Significant phosphorylation reduction; when associated with F-72; F-84 and F-178</li><li>Y->F at 178: Significant phosphorylation reduction; when associated with F-72; F-84 and F-96</li></ul>		phosphorylation	GO:0016310								1
Q8WVM0	51106	<ul><li>G->A at 65: Abolishes methyltransferase activity, DNA-binding and SAM-binding. Does not abolish transcription activator function</li><li>N->A at 141: Does not affect SAM-binding, DNA-binding nor transcription activator function</li><li>K->A at 220: Abolishes methyltransferase activity. Does not affect SAM-binding, DNA-binding nor transcription activator function</li></ul>		transcription	GO:0006350	<li>binding</li><li>DNA-binding</li>	<li>GO:0005488</li><li>GO:0003677</li>			<li>Q00020</li><li>P03588</li><li>P03589</li><li>Q83270</li><li>P28931</li><li>P06011</li><li>P17769</li><li>P20122</li><li>Q66121</li><li>O40976</li><li>P28726</li><li>P27752</li><li>Q83264</li>			1
Q8WVQ1	124583	<ul><li>D->A at 112: Reduces activity by 99%</li><li>D->A at 114: Reduces activity by 99%</li><li>G->E at 152: Slightly reduced activity</li><li>E->Y at 160: Increases GDPase activity 2-fold and ADPase activity 5-fold</li><li>R->A at 163: Reduces activity by 98%</li><li>E->Q at 166: Reduces activity by 95%</li><li>S->A at 168: Reduces activity by over 99.9%</li><li>D->N at 169: Reduces activity by 96%</li><li>D->A at 181: Loss of activity</li><li>D->N at 182: Reduces activity by over 99.9%</li><li>D->A at 205: Slightly reduced activity</li><li>E->Q at 215: Reduces activity by 99%</li><li>E->M at 246: Increases activity 5-fold</li><li>R->A at 301: Reduces activity by 99%</li></ul>								<li>P40009</li><li>Q9HEM6</li><li>P80595</li><li>Q8TGH6</li><li>Q9UT35</li><li>Q8TGG8</li><li>P32621</li><li>P50635</li>			1
Q8WWA0	55600	<ul><li>C->S at 31: Forms mainly monomers; when associated with S-48</li><li>C->S at 48: Forms mainly dimers. Forms mainly monomers; when associated with S-31</li></ul>	<li>V->D at 109: in dbSNP:rs2274907</li><li>R->P at 313: in dbSNP:rs8144</li>									<li>rs8144</li><li>rs2274907</li>	3
Q8WWL7	85417	<ul><li>R->A at 60: In cycB3XA; prevents its destruction after completion of anaphase; when associated with A-63 and A-68</li><li>F->A at 63: In cycB3XA; prevents its destruction after completion of anaphase; when associated with A-60 and A-68</li><li>N->A at 68: In cycB3XA; prevents its destruction after completion of anaphase; when associated with A-60 and A-63</li></ul>	<li>K->T at 597: in a colorectal cancer sample; somatic mutation</li><li>G->R at 1001: in dbSNP:rs6614336</li>	anaphase	GO:0051322							rs6614336	3
Q8WWN8	64411	<ul><li>RR->AA at 307-308: Loss of PtdIns(3,4,5)P3 binding</li></ul>	<li>D->H at 218: in dbSNP:rs1031904</li><li>R->W at 471: in a colorectal cancer sample; somatic mutation</li><li>I->M at 1085: in a breast cancer sample; somatic mutation</li><li>T->P at 1428: in a breast cancer sample; somatic mutation</li>			binding	GO:0005488					rs1031904	3
Q8WWY8	200879	<ul><li>S->A at 154: Loss of lipase activity</li></ul>	<li>Missing  at 172-205: in AUCM</li>							Q7M4U7			3
Q8WXD0	122042	<ul><li>D->Y at 647: Leads to constitutive increase of basal cAMP</li></ul>	<li>T->P at 222: in cryptorchidism; functionally inactive: in dbSNP rsrs28939382, MIM: 219050</li><li>I->V at 604: in dbSNP:rs17076657, MIM: 219050</li>								Cryptorchidism [MIM:219050]	<li>rs17076657</li><li>rs28939382</li>	3
Q8WXE1	84126	<ul><li>EE->AA at 769-770: Abolishes interaction with ATR and its recruitment to sites of DNA damage</li><li>DD->AA at 774-775: Abolishes interaction with ATR and its recruitment to sites of DNA damage</li></ul>	<li>K->Q at 125: in dbSNP:rs11925638</li><li>P->L at 240: in dbSNP:rs35240314</li>							<li>Q13535</li><li>Q9H6X2</li><li>Q9FKS4</li><li>P20848</li>		<li>rs11925638</li><li>rs35240314</li>	3
Q8WXE9	85439	<ul><li>W->A at 738: Reduces interaction with SYT1</li><li>K->A at 740: Reduces interaction with SYT1</li></ul>	<li>S->P at 307: in dbSNP:rs3813535</li><li>R->H at 646: in dbSNP:rs34323725</li><li>T->A at 694: in dbSNP:rs35689202</li><li>S->A at 851: in dbSNP:rs2241621</li>							<li>P41823</li><li>Q60HC0</li><li>P21579</li><li>P47191</li><li>Q5R4J5</li><li>P48018</li>		<li>rs35689202</li><li>rs3813535</li><li>rs34323725</li><li>rs2241621</li>	3
Q8WXF1	55269	<ul><li>F->A at 119: Abolishes accumulation in paraspeckles, but not in perinucleolar caps; when associated with A-121; A-198 and A-200</li><li>F->A at 121: Abolishes accumulation in paraspeckles, but not in perinucleolar caps; when associated with A-119; A-198 and A-200</li><li>K->A at 198: Abolishes accumulation in paraspeckles, but not in perinucleolar caps; when associated with A-119; A-121 and A-200</li><li>F->A at 200: Abolishes accumulation in paraspeckles, but not in perinucleolar caps; when associated with A-119; A-121 and A-198</li></ul>						paraspeckles	GO:0042382				1
Q8WY64	29116	<ul><li>C->A at 387: Abolishes ubiquitin ligase activity</li></ul>	<li>N->S at 342: in dbSNP:rs9370867</li>			ligase activity	GO:0016874			<li>P69326</li><li>P08565</li><li>P69322</li><li>P69323</li><li>P69324</li><li>P69325</li><li>P68196</li><li>O46543</li><li>P68197</li><li>Q05550</li><li>P68198</li><li>P68199</li><li>P19848</li><li>P68195</li><li>P42739</li><li>Q867C2</li><li>P62991</li><li>P62990</li><li>P61863</li><li>P61864</li><li>P61862</li><li>Q867C4</li><li>Q867C3</li><li>P23398</li><li>P68204</li><li>P84589</li><li>Q865C5</li><li>P42740</li><li>P68201</li><li>Q8MKD1</li><li>P14792</li><li>P63049</li><li>P0C072</li><li>P63051</li><li>P69308</li><li>P69309</li><li>P20685</li><li>P15174</li><li>P62976</li><li>P62977</li><li>P62974</li><li>P62975</li><li>P62972</li><li>P13117</li><li>P14624</li><li>P62973</li><li>P46574</li><li>P69310</li><li>P69313</li><li>P69314</li><li>P69311</li><li>P69312</li><li>P08618</li><li>P69317</li><li>P69318</li><li>P0C014</li><li>P69315</li><li>P69316</li><li>P59263</li><li>P69319</li><li>P49634</li><li>P49635</li><li>P22589</li><li>Q9Y848</li><li>P62988</li><li>P62989</li><li>P23324</li><li>P69321</li><li>P69320</li><li>P59669</li>		rs9370867	3
Q8WYL5	54434	<ul><li>C->S at 393: Abrogates phosphatase activity</li><li>W->A at 458: Impairs stimulation of phosphatase activity by actin but does not affect basal activity</li><li>S->A at 937: Reduces binding to YWHAB, YWHAG, YWHAQ and YWHAZ. Abolishes binding to YWHAB, YWHAG, YWHAQ and YWHAZ and increases association with F-actin; when associated with A-978</li><li>S->A at 978: Reduces binding to YWHAB, YWHAG, YWHAQ and YWHAZ. Abolishes binding to YWHAB, YWHAG, YWHAQ and YWHAZ and increases association with F-actin; when associated with A-937</li></ul>				binding	GO:0005488			<li>P26183</li><li>Q7MBF4</li><li>Q88A53</li><li>Q5PC82</li><li>P53455</li><li>P48465</li><li>Q9P4D1</li><li>Q821A6</li><li>Q39596</li><li>Q87SK9</li><li>Q39758</li><li>P26182</li><li>P80709</li><li>Q9I5V3</li><li>Q5F8K9</li><li>Q9UVX4</li><li>O17320</li><li>P78711</li><li>P17128</li><li>P45521</li><li>P45520</li><li>Q99023</li><li>Q4R572</li><li>Q5WT58</li><li>Q8P5D4</li><li>P10989</li><li>P45269</li><li>P68253</li><li>P68251</li><li>P68252</li><li>P68250</li><li>Q60CQ4</li><li>Q8ZI64</li><li>P91754</li><li>Q7MAZ9</li><li>P11426</li><li>Q5P3T0</li><li>O81221</li><li>Q5ZRX9</li><li>P53477</li><li>P53476</li><li>Q9CP21</li><li>P63103</li><li>Q82U82</li><li>P27348</li><li>P60009</li><li>P53502</li><li>Q6FA38</li><li>Q8ZLY4</li><li>P53500</li><li>Q62EU1</li><li>P63104</li><li>O00937</li><li>P14235</li><li>Q9UVF3</li><li>Q5RC20</li><li>Q665U9</li><li>Q8PPG9</li><li>Q9L7A3</li><li>Q87DS9</li><li>O74258</li><li>Q92192</li><li>Q92193</li><li>P53499</li><li>Q5X1E5</li><li>P53498</li><li>O13419</li><li>P31946</li><li>Q9JZ88</li><li>Q63YC3</li><li>P53689</li><li>Q8Y395</li><li>P30161</li><li>Q6LV05</li><li>P20904</li><li>P81085</li><li>Q6TCF2</li><li>Q75D00</li><li>Q9PDL7</li><li>Q5F3W6</li><li>P51775</li><li>P10365</li><li>P60011</li><li>P60010</li><li>O16808</li><li>Q57JQ5</li><li>Q8SWN8</li><li>P02577</li><li>P68555</li><li>P06961</li><li>P29361</li><li>Q88QU2</li><li>Q05214</li><li>Q8X119</li><li>O65316</li><li>O65315</li><li>O65314</li><li>P53491</li><li>Q5E2K7</li><li>Q5ZLQ6</li><li>P13363</li><li>Q8CXX6</li><li>Q7M7K5</li><li>Q8XBL4</li><li>Q5ZMD1</li><li>Q8Z3M9</li><li>Q11212</li><li>Q5RFJ2</li><li>P50138</li><li>P61981</li><li>Q2U7A3</li><li>Q6Q6X0</li><li>Q9UVZ8</li><li>Q9JUB2</li><li>Q5ZKC9</li><li>Q3SZI4</li><li>Q9KPC6</li><li>Q8CWL6</li><li>Q24733</li><li>P90689</li><li>P24902</li><li>Q6D160</li><li>Q5R651</li><li>Q65Q41</li>			1
Q8WZ42	7273	<ul><li>K->A at 32207: Disrupts catalytic activity</li><li>Y->E at 32341: No phosphorylation on tyrosine</li></ul>	<li>V->M at 54: in CMD1G; affects interaction with TCAP/telethonin, MIM: 604145</li><li>D->Y at 60: in dbSNP rsrs35683768, MIM: 604145</li><li>V->M at 115: in a metastatic melanoma sample; somatic mutation, MIM: 604145</li><li>R->W at 279: in HMERF; disrupts NBR1-binding, MIM: 603689</li><li>R->C at 328: in dbSNP rsrs16866538, MIM: 603689</li><li>R->T at 360: in dbSNP rsrs56128843, MIM: 603689</li><li>V->I at 498, MIM: 603689</li><li>R->L at 740: in CMH9: in dbSNP rsrs28933405, MIM: 188840</li><li>A->V at 743: in CMD1G; affects interaction with TCAP/telethonin, MIM: 604145</li><li>T->M at 799: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 604145</li><li>T->I at 811: in dbSNP rsrs35813871, MIM: 604145</li><li>R->H at 922: in dbSNP rsrs56046320, MIM: 604145</li><li>E->D at 937: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145</li><li>W->R at 976: in CMD1G, MIM: 604145</li><li>A->T at 1081: in dbSNP rsrs55914517, MIM: 604145</li><li>G->R at 1137, MIM: 604145</li><li>K->E at 1201: in dbSNP rsrs10497520, MIM: 604145</li><li>V->A at 1202, MIM: 604145</li><li>L->S at 1295: in dbSNP rsrs1552280, MIM: 604145</li><li>G->D at 1345: in dbSNP rsrs36021856, MIM: 604145</li><li>A->T at 1347: in a metastatic melanoma sample; somatic mutation, MIM: 604145</li><li>R->H at 1350: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145</li><li>V->L at 1353: in dbSNP rsrs36062108, MIM: 604145</li><li>I->V at 1393: in dbSNP rsrs16866531, MIM: 604145</li><li>R->C at 1416, MIM: 604145</li><li>R->P at 1441, MIM: 604145</li><li>I->V at 1544, MIM: 604145</li><li>Q->R at 1572: in dbSNP rsrs12476289, MIM: 604145</li><li>R->G at 1658: in dbSNP rsrs56270960, MIM: 604145</li><li>R->Q at 1664: in an ovarian mucinous carcinoma sample; somatic mutation, MIM: 604145</li><li>G->D at 1692: in a lung squamous cell carcinoma sample; somatic mutation, MIM: 604145</li><li>P->L at 1744, MIM: 604145</li><li>S->G at 1772, MIM: 604145</li><li>T->I at 1907: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 604145</li><li>R->H at 1998, MIM: 604145</li><li>P->L at 2107: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 604145</li><li>I->T at 2118: in dbSNP rsrs56404770, MIM: 604145</li><li>A->T at 2164: in dbSNP rsrs56285559, MIM: 604145</li><li>D->Y at 2240, MIM: 604145</li><li>G->S at 2392: in dbSNP rsrs4894048, MIM: 604145</li><li>L->F at 2432: in a lung neuroendocrine carcinoma sample; somatic mutation, MIM: 604145</li><li>I->M at 2610: in dbSNP rsrs56142888, MIM: 604145</li><li>I->M at 2771: in a breast infiltrating ductal carcinoma sample; somatic mutation, MIM: 604145</li><li>V->F at 2823: in dbSNP rsrs33917087, MIM: 604145</li><li>N->S at 2831: in dbSNP rsrs2306636, MIM: 604145</li><li>V->I at 2930: in dbSNP rsrs56373393, MIM: 604145</li><li>K->R at 3154: in dbSNP rsrs4893853, MIM: 604145</li><li>Q->E at 3191: in dbSNP rsrs33997263, MIM: 604145</li><li>P->L at 3238: in a bladder carcinoma sample; somatic mutation, MIM: 604145</li><li>V->G at 3250: in dbSNP rsrs55634230, MIM: 604145</li><li>V->M at 3261: in dbSNP rsrs2291311, MIM: 604145</li><li>R->Q at 3367: in dbSNP rsrs34819099, MIM: 604145</li><li>E->K at 3482: in a metastatic melanoma sample; somatic mutation, MIM: 604145</li><li>S->P at 3491, MIM: 604145</li><li>E->K at 3570: in a breast pleomorphic lobular carcinoma sample; somatic mutation, MIM: 604145</li><li>L->V at 3590, MIM: 604145</li><li>I->V at 3762, MIM: 604145</li><li>S->Y at 3799: in CMD1G, MIM: 604145</li><li>I->F at 3877, MIM: 604145</li><li>I->L at 3965, MIM: 604145</li><li>R->Q at 4084, MIM: 604145</li><li>T->P at 4215, MIM: 604145</li><li>G->W at 4238, MIM: 604145</li><li>L->F at 4283, MIM: 604145</li><li>I->T at 4291: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 604145</li><li>G->D at 4303, MIM: 604145</li><li>D->E at 4427, MIM: 604145</li><li>S->N at 4465: in CMD1G, MIM: 604145</li><li>G->E at 12310, MIM: 604145</li><li>R->H at 12383, MIM: 604145</li><li>V->A at 12469, MIM: 604145</li><li>R->C at 12642: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145</li><li>E->K at 12657: in a Wilms tumor; somatic mutation, MIM: 604145</li><li>K->E at 12679, MIM: 604145</li><li>S->F at 12720: in a metastatic melanoma sample; somatic mutation, MIM: 604145</li><li>R->C at 12798, MIM: 604145</li><li>E->G at 13049, MIM: 604145</li><li>E->K at 13083: in a metastatic melanoma sample; somatic mutation, MIM: 604145</li><li>R->L at 13096, MIM: 604145</li><li>Q->R at 13099: in a lung small cell carcinoma sample; somatic mutation, MIM: 604145</li><li>V->A at 13297, MIM: 604145</li><li>I->M at 13399, MIM: 604145</li><li>A->T at 13418, MIM: 604145</li><li>E->V at 13428, MIM: 604145</li><li>I->T at 13430, MIM: 604145</li><li>R->K at 13434: in a breast pleomorphic lobular carcinoma sample; somatic mutation, MIM: 604145</li><li>D->N at 13469, MIM: 604145</li><li>K->N at 13495, MIM: 604145</li><li>N->S at 13785: in a breast pleomorphic lobular carcinoma sample; somatic mutation, MIM: 604145</li><li>Q->H at 13870: in a lung small cell carcinoma sample; somatic mutation, MIM: 604145</li><li>V->I at 14109, MIM: 604145</li><li>R->Q at 14131, MIM: 604145</li><li>P->T at 14208, MIM: 604145</li><li>L->V at 14728: in a lung adenocarcinoma sample; somatic mutation, MIM: 604145</li><li>S->T at 14999, MIM: 604145</li><li>N->T at 15021, MIM: 604145</li><li>A->V at 15520, MIM: 604145</li><li>R->I at 15555: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 604145</li><li>R->Q at 15620, MIM: 604145</li><li>S->I at 15629, MIM: 604145</li><li>Y->C at 15635: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145</li><li>R->Q at 15700, MIM: 604145</li><li>L->P at 15705, MIM: 604145</li><li>I->M at 15837, MIM: 604145</li><li>R->H at 16058, MIM: 604145</li><li>K->I at 16067, MIM: 604145</li><li>I->T at 16090, MIM: 604145</li><li>R->H at 16195: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145</li><li>R->C at 16409, MIM: 604145</li><li>R->P at 16424, MIM: 604145</li><li>I->M at 16629, MIM: 604145</li><li>K->R at 16877, MIM: 604145</li><li>N->D at 17060, MIM: 604145</li><li>I->V at 17637, MIM: 604145</li><li>R->H at 17838, MIM: 604145</li><li>D->N at 17866, MIM: 604145</li><li>G->E at 17906: in a metastatic melanoma sample; somatic mutation, MIM: 604145</li><li>E->A at 18094, MIM: 604145</li><li>G->S at 18109, MIM: 604145</li><li>R->T at 18164: in an ovarian serous carcinoma sample; somatic mutation, MIM: 604145</li><li>P->L at 18221, MIM: 604145</li><li>A->T at 18222, MIM: 604145</li><li>R->Q at 18726, MIM: 604145</li><li>V->A at 18835: in a breast infiltrating ductal carcinoma sample; somatic mutation, MIM: 604145</li><li>R->K at 18881: in a metastatic melanoma sample; somatic mutation, MIM: 604145</li><li>N->S at 18939, MIM: 604145</li><li>R->Q at 19000, MIM: 604145</li><li>L->Q at 19060: in a lung large cell carcinoma sample; somatic mutation, MIM: 604145</li><li>R->K at 19091: in a lung large cell carcinoma sample; somatic mutation, MIM: 604145</li><li>P->S at 19224: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 604145</li><li>T->I at 19367, MIM: 604145</li><li>E->K at 19392: in a lung neuroendocrine carcinoma sample; somatic mutation, MIM: 604145</li><li>A->S at 19480: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145</li><li>D->G at 19495, MIM: 604145</li><li>R->H at 19665, MIM: 604145</li><li>T->I at 19762, MIM: 604145</li><li>G->R at 19947, MIM: 604145</li><li>V->M at 19956, MIM: 604145</li><li>R->Q at 19992, MIM: 604145</li><li>R->C at 20057, MIM: 604145</li><li>S->L at 20075, MIM: 604145</li><li>T->K at 20179, MIM: 604145</li><li>A->T at 20198, MIM: 604145</li><li>A->V at 20198, MIM: 604145</li><li>R->H at 20331, MIM: 604145</li><li>A->T at 20408: in a metastatic melanoma sample; somatic mutation, MIM: 604145</li><li>R->K at 20564, MIM: 604145</li><li>V->I at 20718, MIM: 604145</li><li>S->P at 20726, MIM: 604145</li><li>T->N at 20892, MIM: 604145</li><li>S->R at 20894, MIM: 604145</li><li>D->E at 21125, MIM: 604145</li><li>P->S at 21403, MIM: 604145</li><li>R->C at 21730, MIM: 604145</li><li>R->Q at 21747, MIM: 604145</li><li>C->R at 21851: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145</li><li>G->R at 21925, MIM: 604145</li><li>R->H at 21995, MIM: 604145</li><li>A->V at 22045, MIM: 604145</li><li>R->H at 22149, MIM: 604145</li><li>V->I at 22160, MIM: 604145</li><li>I->T at 22261, MIM: 604145</li><li>K->N at 22306, MIM: 604145</li><li>R->H at 22357, MIM: 604145</li><li>L->P at 22408, MIM: 604145</li><li>Q->H at 22537: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145</li><li>P->L at 22584, MIM: 604145</li><li>L->P at 22646: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145</li><li>T->A at 22670, MIM: 604145</li><li>A->D at 22770, MIM: 604145</li><li>A->T at 22801: in a metastatic melanoma sample; somatic mutation, MIM: 604145</li><li>R->W at 22823: in a metastatic melanoma sample; somatic mutation, MIM: 604145</li><li>E->Q at 22968, MIM: 604145</li><li>P->L at 23074, MIM: 604145</li><li>L->F at 23079: in a metastatic melanoma sample; somatic mutation, MIM: 604145</li><li>D->N at 23282: in a breast infiltrating ductal carcinoma sample; somatic mutation, MIM: 604145</li><li>H->Y at 23303: in a metastatic melanoma sample; somatic mutation, MIM: 604145</li><li>R->C at 23306, MIM: 604145</li><li>A->S at 23515: in a lung squamous cell carcinoma sample; somatic mutation, MIM: 604145</li><li>E->Q at 23551: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145</li><li>S->N at 23807, MIM: 604145</li><li>D->N at 23872: in an ovarian serous carcinoma sample; somatic mutation, MIM: 604145</li><li>V->A at 23891, MIM: 604145</li><li>Y->H at 23933, MIM: 604145</li><li>T->M at 23939, MIM: 604145</li><li>F->L at 23952: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145</li><li>A->G at 24098, MIM: 604145</li><li>N->S at 24119, MIM: 604145</li><li>V->I at 24133, MIM: 604145</li><li>V->A at 24159: in a head and neck squamous cell carcinoma sample; somatic mutation, MIM: 604145</li><li>T->A at 24239, MIM: 604145</li><li>E->K at 24265, MIM: 604145</li><li>I->T at 24584, MIM: 604145</li><li>I->T at 24781, MIM: 604145</li><li>R->H at 24799, MIM: 604145</li><li>D->H at 24954, MIM: 604145</li><li>T->M at 24980, MIM: 604145</li><li>R->H at 25659, MIM: 604145</li><li>A->T at 25679, MIM: 604145</li><li>P->A at 25720, MIM: 604145</li><li>T->K at 25821, MIM: 604145</li><li>E->K at 25859: in a metastatic melanoma sample; somatic mutation, MIM: 604145</li><li>N->K at 25879, MIM: 604145</li><li>A->V at 25923, MIM: 604145</li><li>V->I at 26045, MIM: 604145</li><li>K->E at 26059: in a lung small cell carcinoma sample; somatic mutation, MIM: 604145</li><li>I->V at 26134, MIM: 604145</li><li>R->C at 26477, MIM: 604145</li><li>D->Y at 26843, MIM: 604145</li><li>K->R at 27346, MIM: 604145</li><li>R->C at 27652, MIM: 604145</li><li>G->V at 27728, MIM: 604145</li><li>F->L at 27754, MIM: 604145</li><li>I->T at 27755, MIM: 604145</li><li>I->V at 27929, MIM: 604145</li><li>I->L at 28132, MIM: 604145</li><li>R->Q at 28168, MIM: 604145</li><li>R->H at 28538, MIM: 604145</li><li>I->T at 28572, MIM: 604145</li><li>A->T at 28948, MIM: 604145</li><li>I->V at 28986, MIM: 604145</li><li>G->E at 28993, MIM: 604145</li><li>L->V at 28998, MIM: 604145</li><li>V->M at 29070, MIM: 604145</li><li>I->V at 29090, MIM: 604145</li><li>R->C at 29419, MIM: 604145</li><li>L->P at 29479, MIM: 604145</li><li>S->L at 29880: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 604145</li><li>D->E at 29976, MIM: 604145</li><li>S->G at 30042, MIM: 604145</li><li>R->C at 30107, MIM: 604145</li><li>S->F at 30125, MIM: 604145</li><li>L->P at 30211, MIM: 604145</li><li>I->T at 30412, MIM: 604145</li><li>T->S at 30617: in a renal chromophobe cancer sample; somatic mutation, MIM: 604145</li><li>T->I at 30674, MIM: 604145</li><li>V->I at 30809: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145</li><li>F->I at 30818, MIM: 604145</li><li>E->K at 30825, MIM: 604145</li><li>I->T at 30856, MIM: 604145</li><li>G->D at 30887, MIM: 604145</li><li>G->S at 30887, MIM: 604145</li><li>R->H at 30897, MIM: 604145</li><li>R->H at 30907, MIM: 604145</li><li>R->H at 30946, MIM: 604145</li><li>I->F at 31081, MIM: 604145</li><li>R->C at 31107, MIM: 604145</li><li>A->G at 31124, MIM: 604145</li><li>N->S at 31156, MIM: 604145</li><li>P->T at 31246, MIM: 604145</li><li>R->H at 31330, MIM: 604145</li><li>C->R at 31690, MIM: 604145</li><li>R->Q at 31724, MIM: 604145</li><li>V->I at 31725, MIM: 604145</li><li>G->S at 31732, MIM: 604145</li><li>V->I at 31886, MIM: 604145</li><li>R->C at 32097, MIM: 604145</li><li>T->N at 32171: in a lung large cell carcinoma sample; somatic mutation, MIM: 604145</li><li>V->I at 32248, MIM: 604145</li><li>Q->H at 32281, MIM: 604145</li><li>R->H at 32323, MIM: 604145</li><li>R->W at 32411: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145</li><li>I->V at 32558, MIM: 604145</li><li>M->V at 32610, MIM: 604145</li><li>G->V at 32637, MIM: 604145</li><li>V->A at 32922, MIM: 604145</li><li>L->R at 32943: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145</li><li>R->H at 32953, MIM: 604145</li><li>R->Q at 32996: in CMD1G, MIM: 604145</li><li>V->L at 33213, MIM: 604145</li><li>R->C at 33242: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145</li><li>T->M at 33387, MIM: 604145</li><li>E->D at 33419, MIM: 604145</li><li>V->M at 33536, MIM: 604145</li><li>K->Q at 33568, MIM: 604145</li><li>E->K at 33616, MIM: 604145</li><li>P->L at 33620, MIM: 604145</li><li>E->V at 33886, MIM: 604145</li><li>I->T at 33899, MIM: 604145</li><li>L->P at 33904: in a gastric adenocarcinoma sample; somatic mutation, MIM: 604145</li><li>T->I at 33955, MIM: 604145</li><li>V->A at 34115, MIM: 604145</li><li>I->N at 34306: in TMD, MIM: 600334</li><li>L->P at 34315: in TMD, MIM: 600334</li>	phosphorylation	GO:0016310	<li>binding</li><li>catalytic activity</li>	<li>GO:0005488</li><li>GO:0003824</li>			<li>Q5RC94</li><li>Q14596</li><li>O70548</li><li>Q6T8D8</li><li>O15273</li>	<li>Tardive tibial muscular dystrophy (TMD) [MIM:600334]</li><li>Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]</li><li>Cardiomyopathy familial hypertrophic type 9 (CMH9) [MIM:188840]</li><li>Hereditary myopathy with early respiratory failure (HMERF) [MIM:603689]</li>	<li>rs55914517</li><li>rs35683768</li><li>rs2291311</li><li>rs56128843</li><li>rs55634230</li><li>rs4893853</li><li>rs1552280</li><li>rs4894048</li><li>rs56285559</li><li>rs16866531</li><li>rs36062108</li><li>rs56046320</li><li>rs56270960</li><li>rs33997263</li><li>rs16866538</li><li>rs2306636</li><li>rs12476289</li><li>rs35813871</li><li>rs56373393</li><li>rs34819099</li><li>rs28933405</li><li>rs56142888</li><li>rs36021856</li><li>rs56404770</li><li>rs10497520</li><li>rs33917087</li>	3
Q8WZ55	7809	<ul><li>Y->A at 98: Stimulation of CLCNKA and CLCNKB currents enhanced; intense localization in the plasma membrane with no intracellular localization observed</li></ul>	<li>R->L at 8: in BS4; completely abolishes CLCNKA activation; mutated protein fails to increase surface expression of CLCNKA; intracellular localization; probably retained in the ER, MIM: 602522</li><li>R->W at 8: in BS4; completely abolishes CLCNKA activation, MIM: 602522</li><li>G->S at 10: in BS4; increases CLCNKA currents over those obtained with wild-type; still activates CLCNKA to an extent similar to that of wild-type; intracellular but some plasma membrane localization as well, MIM: 602522</li><li>G->R at 47: in BS4; atypical; might be due to a less severe loss of function, MIM: 602522</li>	localization	GO:0051179			<li>intracellular</li><li>plasma membrane</li><li>ER</li>	<li>GO:0005622</li><li>GO:0005886</li><li>GO:0005783</li>	<li>P51803</li><li>P51800</li><li>P51801</li><li>P51804</li><li>P21466</li>	Bartter syndrome type 4 (BS4) [MIM:602522]		3
Q8WZ73	117584	<ul><li>H->A at 333: Loss of E3 ubiquitin protein ligase activity</li></ul>								<li>Q8RSY1</li><li>Q2QCI9</li>			1
Q92466	1643	<ul><li>L->A at 258: Impairs interaction with DDB1</li><li>S->A at 262: Impairs interaction with DDB1</li><li>D->A at 264: Impairs interaction with DDB1</li><li>I->A at 269: Impairs interaction with DDB1</li><li>W->A at 270: Impairs interaction with DDB1</li><li>L->A at 272: Impairs interaction with DDB1</li><li>R->A at 273: Impairs interaction with DDB1</li><li>L->P at 350: Impairs interaction with DDB1</li></ul>	<li>M->T at 215: in dbSNP:rs4647750</li><li>K->E at 244: in XP-E; impairs DNA-binding of the UV-DDB complex, MIM: 278740</li><li>R->H at 273: in XP-E; impairs interaction with DDB1 and CUL4A, MIM: 278740</li><ul><li>R->A at 273: Impairs interaction with DDB1</li></ul><li>A->T at 293: in dbSNP:rs4647751, MIM: 278740</li></ul>			DNA-binding	GO:0003677			<li>Q16531</li><li>Q6QNU4</li><li>Q6E7D1</li><li>P33194</li><li>Q13619</li>	Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740]	<li>rs4647751</li><li>rs4647750</li>	4
Q92502	9754	<ul><li>R->E at 608: No effect on cell morphology when overexpressed</li></ul>	<li>G->S at 188: in a breast cancer sample; somatic mutation</li><li>E->K at 242: in a breast cancer sample; somatic mutation</li>										3
Q92540	9887	<ul><li>K->E at 66: Abolishes interaction with RENT1; when associated with E-163</li><li>R->E at 163: Abolishes interaction with RENT1; when associated with E-66</li></ul>	<li>S->F at 627: in dbSNP:rs34221194</li><li>V->I at 900: in dbSNP:rs2298083</li>							<li>Q98TR3</li><li>Q92900</li>		<li>rs2298083</li><li>rs34221194</li>	3
Q92542	23385	<ul><li>DY->AA at 336-337: Increases production of amyloid beta (beta-APP40 and beta-APP42) in APP processing</li></ul>	<li>V->I at 75: in dbSNP:rs12045198</li><li>E->D at 77: in dbSNP:rs35603924</li>							<li>Q60495</li><li>P0A3Z4</li><li>P75313</li><li>P0A3Z2</li><li>O73683</li><li>Q28280</li><li>P0A3Z3</li><li>P08592</li><li>P79307</li><li>P0A3Z1</li><li>Q28757</li><li>P05067</li><li>Q28748</li><li>P29216</li><li>Q28053</li><li>Q5IS80</li><li>P47566</li><li>O93279</li><li>P12023</li><li>Q11207</li><li>Q95241</li><li>P53601</li><li>Q29149</li>		<li>rs35603924</li><li>rs12045198</li>	3
Q92560	8314	<ul><li>C->S at 91: Abolishes enzymatic activity</li><li>L->P at 691: Abolishes interaction with BRCA1</li></ul>	<li>V->E at 616: in dbSNP:rs35353781</li>							<li>Q864U1</li><li>P38398</li><li>Q95153</li><li>Q6J6J0</li><li>Q6J6I8</li><li>Q6J6I9</li><li>Q9GKK8</li>		rs35353781	3
Q92600	9125	<ul><li>R->E at 227: Loss of DNA binding</li></ul>	<li>I->T at 143: in dbSNP:rs17856204</li>			DNA binding	GO:0003677					rs17856204	3
Q92614	399687	<ul><li>RG->AA at 114-115: No effect on interaction with actin</li><li>VL->AA at 117-118: Abolishes interaction with actin</li></ul>	<li>A->V at 958: in dbSNP:rs8076604</li>							<li>Q92192</li><li>Q92193</li><li>P53499</li><li>P26183</li><li>P53498</li><li>O13419</li><li>Q9P4D1</li><li>P48465</li><li>P53455</li><li>Q39596</li><li>Q39758</li><li>P26182</li><li>P80709</li><li>Q9UVX4</li><li>P78711</li><li>P53689</li><li>O17320</li><li>P30161</li><li>P17128</li><li>P45521</li><li>P81085</li><li>P20904</li><li>P45520</li><li>Q6TCF2</li><li>Q99023</li><li>Q75D00</li><li>P51775</li><li>P10365</li><li>P60011</li><li>P60010</li><li>Q8SWN8</li><li>O16808</li><li>P02577</li><li>P10989</li><li>P68555</li><li>Q05214</li><li>Q8X119</li><li>O65316</li><li>O65315</li><li>O65314</li><li>P53491</li><li>P91754</li><li>P13363</li><li>P11426</li><li>O81221</li><li>Q11212</li><li>P50138</li><li>P53477</li><li>P53476</li><li>P60009</li><li>P53502</li><li>Q2U7A3</li><li>P53500</li><li>Q9UVZ8</li><li>O00937</li><li>P14235</li><li>Q9UVF3</li><li>Q24733</li><li>P90689</li><li>P24902</li><li>O74258</li>		rs8076604	3
Q92643	10026	<ul><li>C->A at 92: Partial loss of activity</li><li>C->S at 92: Decrease in activity</li><li>H->A at 164: Loss of activity</li><li>C->A at 206: Loss of activity</li><li>Missing at 311-395: Loss of activity</li></ul>	<li>T->A at 16: in dbSNP:rs12723684</li>									rs12723684	3
Q92698	8438	<ul><li>K->R at 189: Unable to rescue the MMS-sensitive phenotype of S cerevisiae rad54delta cells</li></ul>	<li>D->G at 21: in dbSNP rsrs28363192</li><li>P->H at 63: in a colon adenocarcinoma</li><li>I->M at 74: in dbSNP rsrs28363209</li><li>K->E at 151: in dbSNP:rs2295466</li><li>R->C at 202: in dbSNP rsrs28363218</li><li>G->R at 325: in breast cancer; invasive ductal</li><li>R->Q at 380: in dbSNP rsrs28363234</li><li>V->E at 444: in lymphoma; non-Hodgkin's</li><li>R->C at 534: in dbSNP rsrs28363240</li><li>I->T at 583: in dbSNP rsrs28363243</li>									<li>rs28363240</li><li>rs28363192</li><li>rs28363234</li><li>rs28363243</li><li>rs28363218</li><li>rs28363209</li><li>rs2295466</li>	3
Q92730	27289	<ul><li>T->N at 27: Impairs interaction with UBXD5</li><li>T->A at 45: Abolishes interaction with UBXD5</li></ul>	<li>P->R at 44: in dbSNP:rs2270577</li>									rs2270577	3
Q92738	9712	<ul><li>R->A at 106: Loss of GAP activity on RAB5A</li><li>D->A at 147: Loss of GAP activity on RAB5A</li><li>R->A at 150: Loss of GAP activity on RAB5A</li></ul>								<li>P20936</li><li>Q92263</li><li>P20339</li><li>P09851</li><li>Q92211</li><li>Q5PEA9</li><li>P18066</li><li>P74873</li><li>P61271</li><li>P74851</li><li>P50904</li>			1
Q92743	5654	<ul><li>S->A at 328: Loss of activity</li></ul>											1
Q92754	7022	<ul><li>Y->A at 59: Loss of interaction with WWOX; when associated with A-64</li><li>Y->A at 64: Loss of interaction with WWOX; when associated with A-59</li></ul>								<li>Q5F389</li><li>Q5R9W5</li><li>Q9NZC7</li><li>Q9VLU5</li>			1
Q92784	8110	<ul><li>W->E at 358: Abolishes binding to acetylated histones H3 and H4</li><li>C->R at 360: Abolishes binding to acetylated histones H3 and H4; when associated with R-363</li><li>C->R at 363: Abolishes binding to acetylated histones H3 and H4; when associated with R-360</li></ul>	<li>R->H at 177: in dbSNP:rs17855717</li>			binding	GO:0005488			<li>P61835</li><li>P61834</li><li>P61833</li><li>Q9P427</li><li>P61832</li><li>Q98RY4</li><li>P61831</li><li>P61830</li><li>P83864</li><li>P07041</li><li>P90543</li><li>P02299</li><li>P08437</li><li>Q757N1</li><li>P50564</li><li>P61836</li><li>Q06196</li><li>P08898</li><li>Q9HDN1</li><li>P23753</li><li>Q7XYZ0</li><li>Q9U7D1</li><li>Q2UCQ0</li><li>Q5DWI3</li><li>P80553</li><li>P40285</li><li>P84239</li><li>P84238</li><li>P84237</li><li>P84236</li><li>P84235</li><li>P22843</li>		rs17855717	3
Q92794	7994	<ul><li>C->G at 543: Abrogates HAT activity</li><li>G->E at 657: Abrogates HAT activity</li></ul>	<li>L->S at 134: in dbSNP:rs3824276</li>							<li>Q9EQQ9</li><li>O60502</li><li>Q8VIJ5</li><li>O60235</li>		rs3824276	3
Q92805	2800	<ul><li>Y->A at 697: Abolishes interaction with RAB6A and targeting to Golgi stack</li><li>W->A at 744: Reduces targeting to Golgi stack</li></ul>	<li>N->S at 220: in dbSNP:rs35237091</li><li>V->L at 317: in dbSNP:rs583134</li><li>M->T at 425: in dbSNP:rs634710</li>					Golgi stack	GO:0005795	<li>Q1KME6</li><li>P20340</li><li>Q5RAV6</li>		<li>rs583134</li><li>rs35237091</li><li>rs634710</li>	3
Q92831	8850	<ul><li>V->A at 752: Reduced acetyl-lysine binding</li><li>Y->A at 760: Reduced acetyl-lysine binding</li><li>Y->A at 802: Reduced acetyl-lysine binding</li><li>Y->A at 809: Complete loss of acetyl-lysine binding</li></ul>	<li>N->S at 386: in dbSNP:rs17006625</li>			binding	GO:0005488					rs17006625	3
Q92838	1896	<ul><li>R->C at 153: Abolishes proteolytic processing</li><li>K->N at 158: Abolishes proteolytic processing</li><li>R->A at 159: Abolishes proteolytic processing</li></ul>	<li>H->Y at 54: in ED1, MIM: 305100</li><li>L->R at 55: in ED1, MIM: 305100</li><li>C->R at 60: in ED1, MIM: 305100</li><li>Y->H at 61: in ED1, MIM: 305100</li><li>E->K at 63: in ED1, MIM: 305100</li><li>R->G at 65: in hypodontia, MIM: 300606</li><li>R->L at 69: in ED1, MIM: 305100</li><li>P->L at 118: in a colorectal cancer sample; somatic mutation, MIM: 305100</li><li>R->C at 153: in ED1, MIM: 305100</li><ul><li>R->C at 153: Abolishes proteolytic processing</li></ul><li>R->C at 155: in ED1; abolishes proteolytic processing, MIM: 305100</li></ul><li>R->C at 156: in ED1; abolishes proteolytic processing, MIM: 305100</li></ul><li>R->H at 156: in ED1; abolishes proteolytic processing, MIM: 305100</li></ul><li>R->S at 156: in ED1, MIM: 305100</li></ul><li>K->N at 158: in ED1, MIM: 305100</li><ul><li>K->N at 158: Abolishes proteolytic processing</li></ul><li>Missing  at 183-194: in ED1, MIM: 305100</li></ul><li>Missing  at 184-189: in ED1, MIM: 305100</li></ul><li>Missing  at 185-196: in ED1, MIM: 305100</li></ul><li>G->E at 189: in ED1, MIM: 305100</li></ul><li>Missing  at 191-196: in ED1, MIM: 305100</li></ul><li>G->A at 198: in ED1, MIM: 305100</li></ul><li>G->R at 207: in ED1, MIM: 305100</li></ul><li>P->L at 209: in ED1, MIM: 305100</li></ul><li>Missing  at 218-223: in ED1, MIM: 305100</li></ul><li>G->D at 218: in ED1, MIM: 305100</li></ul><li>G->A at 224: in ED1, MIM: 305100</li></ul><li>H->L at 252: in ED1, MIM: 305100</li></ul><li>H->Y at 252: in ED1, MIM: 305100</li></ul><li>G->C at 255: in ED1, MIM: 305100</li></ul><li>G->D at 255: in ED1; mild, MIM: 305100</li></ul><li>G->V at 269: in ED1, MIM: 305100</li></ul><li>W->G at 274: in ED1, MIM: 305100</li></ul><li>G->R at 291: in ED1, MIM: 305100</li></ul><li>G->W at 291: in ED1, MIM: 305100</li></ul><li>D->H at 298: in ED1, MIM: 305100</li></ul><li>D->Y at 298: in ED1, MIM: 305100</li></ul><li>G->S at 299: in ED1, MIM: 305100</li></ul><li>F->S at 302: in ED1, MIM: 305100</li></ul><li>Q->H at 306: in ED1, MIM: 305100</li></ul><li>V->G at 307: in ED1, MIM: 305100</li></ul><li>Y->C at 320: in ED1, MIM: 305100</li></ul><li>C->Y at 332: in ED1, MIM: 305100</li></ul><li>Y->C at 343: in ED1, MIM: 305100</li></ul><li>A->T at 349: in ED1, MIM: 305100</li></ul><li>A->D at 356: in ED1, MIM: 305100</li></ul><li>R->P at 357: in ED1, MIM: 305100</li></ul><li>Q->E at 358: in ED1, MIM: 305100</li></ul><li>I->N at 360: in ED1, MIM: 305100</li></ul><li>N->D at 372: in ED1, MIM: 305100</li></ul><li>M->I at 373: in ED1, MIM: 305100</li></ul><li>S->R at 374: in ED1, MIM: 305100</li></ul><li>T->M at 378: in ED1, MIM: 305100</li></ul><li>T->P at 378: in ED1, MIM: 305100</li></ul>							<li>Q92838</li><li>Q9BEG5</li>	<li>Ectodermal dysplasia, type 1 (ED1) [MIM:305100]</li><li>Hypodontia [MIM:300606]</li>		4
Q92844	10010	<ul><li>Q->A at 182: Abolishes interaction with TRAF2 and TRAF3</li><li>T->A at 184: Abolishes interaction with TRAF2 and TRAF3</li><li>D->A at 185: Abolishes interaction with TRAF2; greatly diminishes interaction with TRAF3</li><li>D->A at 188: Diminishes interaction with TRAF2 and TRAF3</li><li>F->A at 194: Diminishes interaction with TRAF2 and TRAF3</li></ul>	<li>G->R at 292: in dbSNP:rs10183668</li><li>P->L at 358: in dbSNP:rs2229759</li><li>R->Q at 394: in dbSNP:rs3769969</li>							<li>Q12933</li><li>Q13114</li>		<li>rs2229759</li><li>rs10183668</li><li>rs3769969</li>	3
Q92851	843	<ul><li>C->A at 401: Abolishes proteolytic activity</li></ul>	<li>M->T at 147: in gastric cancer; somatic mutation; impairs CASP10-mediated apoptosis</li><li>S->C at 239: in dbSNP rsrs41473647</li><li>L->F at 285: in ALPS2A; dbSNP:rs17860403, MIM: 603909</li><li>I->L at 406: in ALPS2A; the mutant protein has defective apoptosis and exerts a dominant-negative effect when cotransfected with the wild-type protein, MIM: 603909</li><li>V->I at 410: does not interfere with apoptosis in a dominant negative manner; dbSNP:rs13010627, MIM: 603909</li><li>A->V at 414: in NHL; somatic mutation; dbSNP:rs28936699, MIM: 605027</li><li>P->S at 444: in dbSNP rsrs41513147, MIM: 605027</li><li>Y->C at 446: associated with ALPS2A; does not interfere with apoptosis in a dominant negative manner; dbSNP:rs17860405, MIM: 605027</li>	apoptosis	GO:0006915					<li>Q13427</li><li>Q92851</li><li>Q9NZ71</li>	<li>Familial non-Hodgkin lymphoma (NHL) [MIM:605027]</li><li>Autoimmune lymphoproliferative syndrome type 2A (ALPS2A) [MIM:603909]</li>	<li>rs17860405</li><li>rs41513147</li><li>rs17860403</li><li>rs13010627</li><li>rs28936699</li><li>rs41473647</li>	3
Q92878	10111	<ul><li>K->N at 42: Abolishes ability to degrade ATP</li><li>D->A at 1231: Abolishes ability to degrade ATP</li></ul>	<li>I->L at 94: in dbSNP:rs28903085</li><li>V->I at 127: in dbSNP:rs28903086</li><li>T->I at 191: in dbSNP:rs2230017</li><li>R->W at 193: in dbSNP:rs28903087</li><li>R->H at 224: in dbSNP:rs28903088</li><li>V->L at 315: in dbSNP:rs28903090</li><li>K->E at 616: in dbSNP:rs1047380</li><li>V->A at 697: in dbSNP:rs1047382</li><li>V->A at 842: in dbSNP:rs28903093</li><li>Y->H at 964: in dbSNP:rs1047386</li><li>K->M at 973: in dbSNP:rs1129482</li><li>R->G at 1038: in dbSNP:rs1047387</li>									<li>rs28903093</li><li>rs28903090</li><li>rs28903087</li><li>rs28903088</li><li>rs1047387</li><li>rs2230017</li><li>rs28903085</li><li>rs1047386</li><li>rs28903086</li><li>rs1129482</li><li>rs1047380</li><li>rs1047382</li>	3
Q92879	10658	<ul><li>F->L at 63: Does not reduce RNA-binding; when associated with D-331 and F-472. Abolishes ARE/EDEN-dependent deadenylation; when associated with D-331 and F-472</li><li>G->D at 331: Does not reduce RNA-binding; when associated with L-63 and F-472. Abolishes ARE/EDEN-dependent deadenylation; when associated with D-331 and F-472</li><li>L->F at 472: Does not reduce RNA-binding; when associated with L-63 and D-331. Abolishes ARE/EDEN-dependent deadenylation; when associated with D-331 and F-472</li></ul>				RNA-binding	GO:0003723						1
Q92887	1244	<ul><li>W->A,C at 1254: Fails to transport methotrexate, leukotriene C4 and estradiol glucuronide</li><li>W->F at 1254: Fails to transport methotrexate and leukotriene C4. Does not affect estradiol glucuronide transport</li><li>W->Y at 1254: Fails to transport methotrexate; reduces leukotriene C4 transport. Does not affect estradiol glucuronide transport</li></ul>	<li>F->Y at 39: in dbSNP:rs927344</li><li>M->L at 246: in dbSNP:rs45462493</li><li>S->N at 281: in dbSNP:rs56131651</li><li>D->G at 333: in dbSNP:rs17222674</li><li>R->H at 353: in dbSNP:rs7080681</li><li>V->I at 417: in dbSNP:rs2273697</li><li>K->E at 495: in dbSNP:rs17222561</li><li>F->L at 562: in dbSNP:rs17216233</li><li>I->T at 670</li><li>R->W at 768: in DJS; dbSNP:rs56199535, MIM: 237500</li><li>S->F at 789: in dbSNP:rs56220353, MIM: 237500</li><li>L->R at 849: in dbSNP:rs17222617, MIM: 237500</li><li>I->V at 982: in dbSNP:rs17222554, MIM: 237500</li><li>I->T at 1036: in dbSNP:rs45441199, MIM: 237500</li><li>N->S at 1063: in dbSNP:rs17222540, MIM: 237500</li><li>R->H at 1150: in DJS; protein is properly localized at the plasma membrane, but transport activity is impaired, MIM: 237500</li><li>I->F at 1173: in DJS; low expression and mislocation to the endoplasmic reticulum, MIM: 237500</li><li>R->L at 1181: in dbSNP:rs8187692, MIM: 237500</li><li>V->E at 1188: in dbSNP:rs17222723, MIM: 237500</li><li>T->A at 1273: in dbSNP:rs8187699, MIM: 237500</li><li>P->L at 1291: in dbSNP:rs17216317, MIM: 237500</li><li>Q->R at 1382: in DJS, MIM: 237500</li><li>Missing  at 1392-1393: in DJS; impaired maturation and intercompartmental trafficking, MIM: 237500</li><li>A->T at 1450: in dbSNP:rs56296335, MIM: 237500</li><li>C->Y at 1515: in dbSNP:rs8187710, MIM: 237500</li>	<li>glucuronide transport</li><li>transport</li>	<li>GO:0015779</li><li>GO:0006810</li>			<li>plasma membrane</li><li>endoplasmic reticulum</li>	<li>GO:0005886</li><li>GO:0005783</li>		Dubin-Johnson syndrome (DJS) [MIM:237500]	<li>rs2273697</li><li>rs8187692</li><li>rs45462493</li><li>rs45441199</li><li>rs7080681</li><li>rs8187699</li><li>rs17222723</li><li>rs56296335</li><li>rs56131651</li><li>rs17222674</li><li>rs17216233</li><li>rs56199535</li><li>rs56220353</li><li>rs927344</li><li>rs17222617</li><li>rs17222554</li><li>rs17222561</li><li>rs8187710</li><li>rs17216317</li><li>rs17222540</li>	3
Q92900	5976	<ul><li>R->C at 843: Abolishes NMD</li><li>S->A at 1089: Still phosphorylated but with less efficiency</li><li>S->A at 1107: Impairs phosphorylation</li><li>Q->N at 1108: Impairs phosphorylation</li></ul>		phosphorylation	GO:0016310								1
Q92932	5799	<ul><li>C->S at 945: Loss of activity</li></ul>	<li>S->T at 140: in dbSNP:rs3800855</li><li>S->P at 208: in dbSNP:rs1130495</li><li>R->H at 213: in dbSNP:rs1130496</li><li>S->N at 325: in dbSNP:rs1130499</li><li>V->M at 343: in dbSNP:rs3752368</li><li>L->H at 388: in dbSNP:rs7456452</li><li>E->K at 716: in a colorectal cancer sample; somatic mutation</li>									<li>rs1130496</li><li>rs1130495</li><li>rs7456452</li><li>rs3752368</li><li>rs1130499</li><li>rs3800855</li>	3
Q92947	2639	<ul><li>E->D at 414: Reduced catalytic activity</li></ul>	<li>R->C at 88: in GA1, MIM: 231670</li><li>R->L at 94: in GA1, MIM: 231670</li><li>G->R at 101: in GA1, MIM: 231670</li><li>C->Y at 115: in GA1, MIM: 231670</li><li>A->V at 122: in GA1, MIM: 231670</li><li>R->G at 128: in GA1, MIM: 231670</li><li>R->G at 138: in GA1; impaired protein stability and loss of activity, MIM: 231670</li><li>S->L at 139: in GA1, MIM: 231670</li><li>V->I at 148: in GA1, MIM: 231670</li><li>R->Q at 161: in GA1, MIM: 231670</li><li>G->R at 178: in GA1, MIM: 231670</li><li>L->R at 179: in GA1, MIM: 231670</li><li>M->T at 191: in GA1, MIM: 231670</li><li>A->T at 195: in GA1, MIM: 231670</li><li>R->P at 227: in GA1, MIM: 231670</li><li>F->L at 236: in GA1, MIM: 231670</li><li>R->Q at 257: in GA1, MIM: 231670</li><li>R->W at 257: in GA1, MIM: 231670</li><li>M->V at 266: in GA1, MIM: 231670</li><li>P->S at 278: in GA1, MIM: 231670</li><li>L->P at 283: in GA1, MIM: 231670</li><li>A->T at 293: in GA1, MIM: 231670</li><li>R->W at 294: in GA1, MIM: 231670</li><li>Y->H at 295: in GA1, MIM: 231670</li><li>A->T at 298, MIM: 231670</li><li>A->V at 298, MIM: 231670</li><li>S->L at 305: in GA1, MIM: 231670</li><li>C->S at 308: in GA1, MIM: 231670</li><li>L->W at 309: in GA1, MIM: 231670</li><li>R->W at 313: in GA1, MIM: 231670</li><li>Q->E at 333: in GA1, MIM: 231670</li><li>A->T at 349: in GA1, MIM: 231670</li><li>G->R at 354: in GA1, MIM: 231670</li><li>G->S at 354: in GA1, MIM: 231670</li><li>R->C at 355: in GA1, MIM: 231670</li><li>R->H at 355: in GA1, MIM: 231670</li><li>E->K at 365: in GA1, MIM: 231670</li><li>C->R at 375: in GA1, MIM: 231670</li><li>A->T at 382: in GA1, MIM: 231670</li><li>R->C at 383: in GA1, MIM: 231670</li><li>R->H at 383: in GA1, MIM: 231670</li><li>R->Q at 386: in GA1, MIM: 231670</li><li>G->A at 390: in GA1, MIM: 231670</li><li>G->R at 390: in GA1, MIM: 231670</li><li>N->D at 392: in GA1, MIM: 231670</li><li>V->M at 400: in GA1, MIM: 231670</li><li>R->Q at 402: in GA1, MIM: 231670</li><li>R->W at 402: in GA1; most common mutation identified; loss of tetramerization and enzyme activity, MIM: 231670</li><li>H->R at 403: in GA1, MIM: 231670</li><li>N->K at 406: in GA1, MIM: 231670</li><li>L->P at 407: in GA1, MIM: 231670</li><li>E->K at 414: in GA1; loss of enzyme activity, MIM: 231670</li><ul><li>E->D at 414: Reduced catalytic activity</li></ul><li>T->I at 416: in GA1, MIM: 231670</li></ul><li>A->T at 421: in GA1, MIM: 231670</li></ul><li>A->V at 421: in GA1; impaired association of subunits, MIM: 231670</li></ul><li>T->M at 429: in GA1, MIM: 231670</li></ul><li>A->E at 433: in GA1, MIM: 231670</li></ul>			catalytic activity	GO:0003824			<li>P26981</li><li>P49084</li><li>P49083</li><li>Q86D96</li><li>Q38802</li><li>O04278</li>	Glutaric aciduria type 1 (GA1) [MIM:231670]		4
Q92963	6016	<ul><li>S->N at 35: Dominant negative. Loss of interaction with MLLT4, RLF and RALGDS</li><li>T->S at 53: Loss of interaction with MLLT4, RLF and RALGDS; when associated with L-79</li><li>E->G at 55: Loss of interaction with MLLT4, but not with RLF and RALGDS; when associated with L-79</li><li>Q->L at 79: Constitutively active. Dramatic reduction of the rate of GTP hydrolysis. Loss of interaction with MLLT4, RLF and RALGDS; when associated with S-53. Loss of interaction with MLLT4; when associated with G-55</li></ul>		GTP hydrolysis	GO:0006184					<li>P55196</li><li>Q5CZK3</li><li>O97937</li><li>Q13129</li><li>P51461</li><li>Q6X7V3</li><li>Q12967</li><li>P51460</li><li>O77801</li>			1
Q92974	9181	<ul><li>C->R at 53: Abolishes microtubule binding, increased activity in vitro</li><li>S->A at 143: Abolishes phosphorylation by PAK4, self aggregation in the cytoplasm. Increases activity; when associated with A-896</li><li>Y->A at 394: Reduces phosphorylation level, normal microtubule localization and activity</li><li>T->A at 679: Reduces phosphorylation level</li><li>S->A at 886: Normal activity</li><li>S->D at 886: Increases activity. Abolishes nucleotide exchange activity; when associated with D-960</li><li>S->A at 896: Abolishes phosphorylation by PAK4, self aggregation in the cytoplasm. Increases activity; when associated with A-143</li><li>S->A at 960: Normal activity</li><li>S->D at 960: Increases activity. Abolishes nucleotide exchange activity; when associated with D-886</li></ul>		<li>phosphorylation</li><li>localization</li>	<li>GO:0016310</li><li>GO:0051179</li>	microtubule binding	GO:0008017	<li>cytoplasm</li><li>microtubule</li>	<li>GO:0005737</li><li>GO:0005874</li>	O96013			1
Q92990	11146	<ul><li>P->A at 219: Loss of interaction with FKBP12 and FKBP59</li></ul>	<li>Missing  at 393: in GVMs</li>							<li>Q9TRY0</li><li>O04287</li><li>P48375</li><li>P30416</li><li>Q8LGG0</li><li>Q02790</li><li>P62942</li><li>Q9VL78</li><li>Q9QVC8</li><li>P27124</li><li>P62943</li>			3
Q92993	10524	<ul><li>S->A at 86: Reduces phosphorylation. Abolishes phosphorylation; when associated with A-90. Reduced activity</li><li>S->A at 90: Reduces phosphorylation. Abolishes phosphorylation; when associated with A-86. Reduced activity</li><li>L->A at 254: Does not affect phosphorylation; when associated with A-257</li><li>L->A at 257: Does not affect phosphorylation; when associated with A-254</li><li>G->A at 380: Loss of function. Does not affect phosphorylation</li></ul>		phosphorylation	GO:0016310								1
Q93009	7874	<ul><li>D->A at 164: Decreased binding to TP53 and MDM2</li><li>W->A at 165: Loss of binding to TP53 and MDM2</li><li>C->A at 223: Complete loss of activity</li><li>C->S at 223: No effect on TP53 binding but is defective in deubiquitinating p53</li><li>H->A at 456: Complete loss of activity</li><li>H->A at 464: Complete loss of activity</li></ul>				binding	GO:0005488			<li>Q9TUB2</li><li>P02340</li><li>P56423</li><li>P56424</li><li>O12946</li><li>P25035</li><li>Q42578</li><li>Q00987</li><li>O36006</li><li>Q64662</li><li>P56950</li><li>O57538</li><li>Q7YRZ8</li><li>P56951</li><li>P10360</li><li>P61260</li><li>P10361</li><li>Q9W679</li><li>Q9W678</li><li>P13481</li><li>Q9TTA1</li><li>Q95330</li><li>P19559</li><li>O93379</li><li>P41685</li><li>P19558</li><li>Q8SPZ3</li><li>Q92143</li><li>P79820</li><li>Q29537</li><li>P04637</li><li>Q29480</li><li>Q60524</li><li>O09185</li><li>Q00366</li><li>P79892</li><li>P51664</li><li>P67939</li><li>Q9WUR6</li><li>P67938</li>			1
Q93038	8718	<ul><li>L->A at 354: Suppresses homodimerization, TNFR1 interaction, and apoptosis induction</li><li>L->A at 356: Suppresses homodimerization, and TNFR1 interaction</li><li>D->A at 373: Suppresses homodimerization, and TNFR1 interaction</li></ul>	<li>R->Q at 23: in dbSNP:rs35771371</li><li>D->G at 159: in dbSNP:rs11800462</li><li>P->R at 254: in dbSNP rsrs34529016</li><li>R->L at 370: in dbSNP:rs1064590</li><li>R->H at 381: in dbSNP:rs1059333</li>	apoptosis	GO:0006915					<li>P19438</li><li>O19131</li><li>P50555</li>		<li>rs1064590</li><li>rs35771371</li><li>rs1059333</li><li>rs34529016</li><li>rs11800462</li>	3
Q93052	4026	<ul><li>T->A at 610: Abolishes binding to SCRIB</li><li>L->A at 612: Abolishes binding to SCRIB</li></ul>	<li>T->A at 146: in dbSNP:rs35417432</li><li>S->P at 259: in dbSNP:rs35940579</li><li>Y->H at 346: in dbSNP:rs7645635</li>			binding	GO:0005488			Q14160		<li>rs35940579</li><li>rs7645635</li><li>rs35417432</li>	3
Q93077	8334	<ul><li>S->A at 2: Blocks the inhibition of transcription by RPS6KA5/MSK1</li></ul>		transcription	GO:0006350					<li>P32048</li><li>Q5F3L1</li><li>Q5R4K3</li><li>O75582</li>			1
Q93096	7803	<ul><li>T->F at 13: Reduces trimerization</li><li>D->A at 71: No effect on catalytic activity</li><li>D->A at 72: 80% loss of catalytic activity; delay in progression through G2/M</li><li>C->S at 104: Abolishes enzymatic activity</li><li>Q->A at 131: Reduces trimerization</li><li>C->S at 170: Redistributes to the nucleus in resting cells, but still locates to the mitotic spindle in dividing cells. Induces defects in cytokinesis</li><li>C->S at 171: No effect on subcellular location</li></ul>		cytokinesis	GO:0000910	catalytic activity	GO:0003824	<li>spindle</li><li>nucleus</li>	<li>GO:0005819</li><li>GO:0005634</li>				1
Q95460	3140	<ul><li>C->G at 283: No effect on cell surface expression</li></ul>	<li>H->R at 39: in dbSNP:rs2236410</li><li>R->Q at 63: in dbSNP:rs3897433</li><li>A->V at 77: in dbSNP:rs3897434</li>					cell surface	GO:0009928,GO:0009986			<li>rs2236410</li><li>rs3897433</li><li>rs3897434</li>	3
Q969F2	85409	<ul><li>G->A at 2: Abrogates myristoylation and membrane association and impairs delivery of TGFA to the cell surface</li></ul>	<li>T->K at 257: in dbSNP:rs35679233</li>					<li>membrane</li><li>cell surface</li>	<li>GO:0016020</li><li>GO:0009928,GO:0009986</li>	<li>P98135</li><li>P98138</li><li>Q06922</li><li>P55244</li><li>P01135</li>		rs35679233	3
Q969H4	10256	<ul><li>W->A at 493: No interaction with Rho</li></ul>								<li>P51489</li><li>Q06447</li><li>P0AG30</li><li>P0AG31</li><li>P0AG32</li><li>P0AG33</li><li>P56466</li><li>Q89A22</li><li>P45835</li><li>Q03222</li><li>P38527</li><li>P44619</li><li>P35359</li><li>P33561</li><li>P52156</li><li>P52155</li><li>P52158</li><li>P52157</li><li>P57652</li><li>P17593</li><li>P52152</li><li>P52154</li><li>P52153</li><li>P17594</li><li>O83281</li><li>O51891</li><li>P15409</li><li>P66028</li><li>P66029</li><li>Q9ZLS9</li><li>P0A296</li><li>P0A295</li><li>P29403</li><li>Q9ZD24</li><li>P03304</li><li>O67031</li><li>P20350</li>			1
Q969K3	80196	<ul><li>H->A at 342: Loss of E3 ubiquitin protein ligase activity</li></ul>								<li>Q8RSY1</li><li>Q2QCI9</li>			1
Q969N2	51604	<ul><li>C->S at 182: Decrease in activity</li></ul>	<li>A->T at 473: in dbSNP:rs36056071</li>									rs36056071	3
Q969Q1	84676	<ul><li>C->A at 39: Loss of SUMO2-binding</li><li>H->A at 41: Loss of SUMO2-binding</li><li>C->A at 44: Loss of SUMO2-binding</li><li>C->A at 47: Loss of SUMO2-binding</li></ul>	<li>K->E at 237: in dbSNP:rs2275950</li>			binding	GO:0005488			<li>Q6LDZ8</li><li>P61958</li><li>P61956</li><li>P61955</li>		rs2275950	3
Q969S2	252969	<ul><li>K->R at 50: Loss of glycosylase and AP lyase activity</li><li>K->R at 154: No effect on glycosylase and AP lyase activity</li><li>C->S at 291: Loss of glycosylase and AP lyase activity</li><li>H->A at 295: Loss of glycosylase and AP lyase activity</li><li>R->Q at 310: Strongly reduces strand AP lyase activity</li><li>C->S at 315: Loss of glycosylase and AP lyase activity</li><li>C->S at 318: Loss of glycosylase and AP lyase activity</li></ul>	<li>T->S at 70: in dbSNP:rs8191611</li><li>R->Q at 103: in dbSNP:rs8191613</li><li>R->W at 103: in dbSNP:rs8191612</li><li>R->L at 257: in dbSNP:rs8191664</li><li>P->T at 304: in dbSNP:rs8191666</li>							<li>Q9UZY0</li><li>Q972A8</li><li>O66612</li><li>Q8TXW8</li><li>Q6L1T6</li><li>O15527</li><li>Q9V3I8</li><li>Q58134</li><li>Q6M0G7</li><li>P53397</li><li>O58954</li><li>Q8R689</li><li>Q5UQ00</li><li>Q74MX2</li><li>Q8ZVK6</li><li>Q9X2E1</li><li>O27397</li><li>Q9YE60</li><li>Q5JI79</li><li>O70249</li><li>O29876</li><li>Q97CP1</li><li>Q9HM55</li><li>Q4J929</li><li>Q97ZK2</li><li>Q8U2D5</li><li>O08760</li>		<li>rs8191612</li><li>rs8191611</li><li>rs8191613</li><li>rs8191664</li><li>rs8191666</li>	3
Q969S8	83933	<ul><li>H->A at 135: Abolishes deacetylase activity. Does not affect interaction with HDAC3</li></ul>	<li>V->I at 429: in dbSNP:rs34402301</li><li>G->C at 584</li>			deacetylase activity	GO:0019213			<li>P56520</li><li>O15379</li>		rs34402301	3
Q969T4	10477	<ul><li>C->S at 145: Loss of activity</li></ul>	<li>W->R at 201: in dbSNP:rs2368192</li>									rs2368192	3
Q969V5	79594	<ul><li>R->A at 260: Protein is targeted to the ER; when associated with A-261</li><li>K->A at 261: Protein is targeted to the ER; when associated with A-260</li><li>H->A at 319: Abolishes ligase activity. No effect on mitochondrial localization</li><li>C->A at 339: Abolishes ligase activity</li></ul>		localization	GO:0051179	ligase activity	GO:0016874	ER	GO:0005783				1
Q96AD5	57104	<ul><li>S->A at 47: Reduces rate of lipid hydrolysis; does not affect the localization around the rim of the adiposomes</li></ul>	<li>P->L at 195: in NLSDM, MIM: 610717</li><li>L->F at 219, MIM: 610717</li><li>N->K at 252, MIM: 610717</li><li>L->P at 481: in dbSNP:rs1138693, MIM: 610717</li>	localization	GO:0051179						Neutral lipid storage disease with myopathy (NLSDM) [MIM:610717]	rs1138693	3
Q96AQ6	57326	<ul><li>LASLL->AASAA at 615-619: Reduces interaction with ESR1</li></ul>	<li>G->D at 356: in dbSNP:rs2061690</li><li>G->D at 357: in dbSNP:rs2061690</li>							<li>Q9TV98</li><li>Q9QZJ5</li><li>P49884</li><li>Q91424</li><li>Q91250</li><li>Q29040</li><li>P38111</li><li>Q9YHT3</li><li>P50242</li><li>P50241</li><li>P03372</li><li>P16058</li><li>P50240</li><li>Q9PVZ9</li><li>Q9YH33</li><li>P06212</li><li>P57753</li><li>P49885</li><li>Q53AD2</li><li>P49886</li><li>O42132</li><li>Q9YHZ7</li>		rs2061690	3
Q96AV8	144455	<ul><li>LG->EE at 147-148: Loss of DNA-binding and E2F-dependent repression</li><li>R->A at 185: Loss of DNA-binding and inhibition of E2F1-dependent activation</li><li>R->A at 334: Loss of DNA-binding and inhibition of E2F1-dependent activation</li></ul>	<li>L->F at 72: in dbSNP:rs310791</li><li>M->V at 626: in dbSNP:rs3829295</li><li>Q->H at 854: in dbSNP:rs310831</li>			DNA-binding	GO:0003677			<li>Q01094</li><li>Q90977</li><li>Q27368</li>		<li>rs310831</li><li>rs3829295</li><li>rs310791</li>	3
Q96B01	10635	<ul><li>R->A at 333: Strongly descreases interaction with RAD51; when associated with Q-336; A-345 and A-346</li><li>L->Q at 336: Strongly descreases interaction with RAD51; when associated with A-333; A-345 and A-346</li><li>LH->AA at 345-346: Strongly descreases interaction with RAD51; when associated with A-333; and Q-336</li></ul>								<li>Q40134</li><li>P94102</li><li>Q2KJ94</li><li>Q8MKI8</li><li>O77507</li><li>Q99133</li><li>P37383</li><li>P25454</li><li>P70099</li><li>Q06609</li>			1
Q96BA8	90993	<ul><li>P->L at 392: Abolishes proteolytic cleavage by PS2</li><li>R->A at 423: Abolishes proteolytic cleavage by PS1</li><li>L->V at 426: Abolishes proteolytic cleavage by PS1</li></ul>	<li>A->T at 411: in dbSNP:rs35652107</li>							<li>P04155</li><li>Q9W6T7</li><li>P79801</li><li>P84718</li><li>P49768</li><li>Q90ZE4</li><li>P49810</li><li>P79802</li><li>Q8HXW5</li>		rs35652107	3
Q96BD6	80176	<ul><li>Y->F at 31: Loss of phosphorylation</li><li>LPLP->AAAA at 260-263: Abolishes interaction with RNF7 and CUL5</li></ul>		phosphorylation	GO:0016310					<li>Q9UBF6</li><li>Q5RB36</li><li>Q29425</li><li>Q93034</li>			1
Q96BR1	23678	<ul><li>R->A at 90: Partially localized to the membrane</li><li>K->M at 191: Abolishes activity</li><li>S->D at 486: Increased activation</li></ul>	<li>A->V at 92: in a breast cancer sample; somatic mutation</li><li>L->P at 355</li>					membrane	GO:0016020				3
Q96BY2	64112	<ul><li>Missing at 120-127: Abrogates interaction with BAX, resulting in a nonapoptotic protein</li><li>L->E at 120: Weakened interaction with BAX, resulting in a nonapoptotic protein</li><li>GHE->VLA at 125-127: Abrogates interaction with BAX, resulting in a nonapoptotic protein</li><li>KYKKLR->AYAALA at 161-166: No effect on RASSF1-binding</li><li>EEE->AAA at 178-180: No effect on RASSF1-binding; interacts with BAX in the absence of RASSF1</li><li>KRRR->AAAA at 202-205: Loss of RASSF1-binding; interacts with BAX in the absence of RASSF1</li></ul>				binding	GO:0005488			<li>Q07815</li><li>Q9NS23</li><li>Q07812</li><li>Q07814</li><li>O02703</li><li>P55269</li>			1
Q96C23	130589	<ul><li>H->A at 107: Reduces activity over 5-fold</li><li>H->A at 176: Loss of activity</li><li>E->A at 307: Loss of activity</li></ul>	<li>N->Y at 190: in dbSNP:rs6741892</li>									rs6741892	3
Q96C86	28960	<ul><li>R->A at 58: Increases decapping activity to 125% of wild-type</li><li>I->A at 61: No effect</li><li>F->A at 63: No effect</li><li>I->A at 83: Strongly reduces decapping activity</li><li>E->A at 85: Reduces decapping activity</li><li>F->A at 108: Reduces decapping activity</li><li>N->A at 110: Loss of decapping activity</li><li>Y->A at 113: Loss of decapping activity</li><li>K->A at 128: No effect</li><li>K->D at 138: Increases decapping activity to 250% of wild-type</li><li>R->A at 145: Increases decapping activity to 180% of wild-type</li><li>Q->P at 146: Increases decapping activity to 140% of wild-type</li><li>W->A at 175: Loss of decapping activity</li><li>E->A at 185: Loss of decapping activity</li><li>P->A at 204: Reduces decapping activity</li><li>D->A at 205: Reduces decapping activity</li><li>L->A at 206: No effect</li><li>K->A at 207: Reduces decapping activity</li><li>K->R at 207: No effect</li><li>Y->A at 217: No effect</li><li>Y->F at 217: Reduces decapping activity</li><li>H->N at 268: Loss of decapping activity</li><li>S->A at 272: No effect</li><li>H->N at 277: Loss of decapping activity</li><li>H->N at 279: Loss of decapping activity</li><li>R->A,K at 294: No effect</li><li>R->A at 322: No effect</li></ul>	<li>G->E at 73: in dbSNP:rs11557735</li>									rs11557735	3
Q96CA5	79444	<ul><li>EE->AA at 87-88: No change in SMAC interaction and anti-apoptotic activity</li><li>D->A at 120: Abolishes inhibition of caspases, SMAC binding and anti-apoptotic activity</li><li>C->A at 124: Abolishes inhibition of caspases and anti-apoptotic activity</li><li>D->A at 138: Abolishes inhibition of caspases, SMAC binding and anti-apoptotic activity</li></ul>	<li>E->Q at 223: in dbSNP:rs1077019</li>			binding	GO:0005488			Q9NR28		rs1077019	3
Q96CC6	64285	<ul><li>N->Q at 131: No effect</li><li>N->Q at 381: No effect</li><li>N->Q at 583: Loss of N-glycosylation</li></ul>	<li>R->W at 265: in dbSNP:rs3213511</li>									rs3213511	3
Q96CG3	92610	<ul><li>G->E at 50: Loss of trimerization and activation of NF-kappa-B and JNK pathways; when associated with A-66</li><li>S->A at 66: Loss of trimerization and activation of NF-kappa-B and JNK pathways; when associated with E-50</li><li>E->A at 178: Loss of binding to TRAF6 and activation of NF-kappa-B and JNK pathways</li></ul>	<li>T->M at 19: in dbSNP:rs6834237</li>			binding	GO:0005488			<li>Q966Y3</li><li>P92208</li><li>Q9Y4K3</li>		rs6834237	3
Q96D46	51068	<ul><li>K->A at 405: Reduces accumulation in the nucleus. Loss of nucleolar localization; when associated with A-406</li><li>K->A at 406: Reduces accumulation in the nucleus. Loss of nucleolar localization; when associated with A-405</li><li>L->A at 480: Reduces nuclear export</li><li>L->A at 484: Reduces nuclear export</li><li>L->A at 487: Reduces nuclear export</li></ul>	<li>E->K at 6: in dbSNP:rs12490341</li>	<li>nuclear export</li><li>localization</li>	<li>GO:0051168</li><li>GO:0051179</li>			nucleus	GO:0005634			rs12490341	3
Q96D96	84329	<ul><li>H->A at 140: Exhibits selectivity to protons but sensitivity to zinc ions is abolished; when associated with A-193</li><li>H->A at 193: Exhibits selectivity to protons but sensitivity to zinc ions is abolished; when associated with A-140</li><li>R->A at 205: Faster channel activation and deactivation kinetics</li><li>R->A at 208: Faster channel activation and deactivation kinetics</li><li>R->A at 211: Faster channel deactivation kinetics</li></ul>											1
Q96DC9	78990	<ul><li>C->S at 51: Loss of function in vitro</li></ul>											1
Q96DN0	121506	<ul><li>M->W at 168: Decreases somatostatin-14 binding</li><li>I->A,L,W at 196: Decreases somatostatin-14 binding</li><li>I->W at 196: Conserved PDIA3 binding in vivo and in vitro</li><li>E->K,A at 231: Greatly reduces PDIA3 binding in vivo and in vitro</li><li>W->A at 232: Greatly reduces PDIA3 binding in vivo and in vitro</li><li>D->G at 233: Greatly reduces PDIA3 binding in vivo and in vitro</li></ul>	<li>F->L at 52: in dbSNP:rs35030722</li>			binding	GO:0005488			<li>P38657</li><li>P30101</li><li>P60041</li><li>Q9W7F0</li><li>P60042</li><li>P19209</li><li>P33094</li><li>Q9PRZ6</li><li>P01171</li><li>P21779</li><li>Q9PRR0</li><li>P01169</li><li>P01168</li><li>Q9YGH5</li><li>P61279</li><li>P81246</li><li>P61278</li><li>O46688</li><li>P87384</li><li>P26917</li><li>P49670</li><li>P61299</li><li>P61298</li>		rs35030722	3
Q96DR7	26084	<ul><li>W->R at 826: Fails to localize at sites of membrane ruffling</li></ul>	<li>L->V at 29: in dbSNP:rs12493885</li><li>F->S at 203: in dbSNP:rs13096373</li>					membrane	GO:0016020			<li>rs12493885</li><li>rs13096373</li>	3
Q96DU3	114836	<ul><li>R->A at 108: Inhibits dimerization</li><li>Q->A at 110: Inhibits dimerization</li><li>S->A at 112: Inhibits dimerization</li></ul>											1
Q96DZ1	27248	<ul><li>G->S at 379: Abolishes binding to KREMEN2</li></ul>	<li>V->L at 318: in dbSNP:rs2287345</li>			binding	GO:0005488			Q8NCW0		rs2287345	3
Q96E14	116028	<ul><li>K->A at 24: Abolishes interaction with RMI1, TOP3A and BLM</li><li>W->A at 59: According to PubMed</li><li>K->A at 100: Does not affect interaction with RMI1, TOP3A and BLM</li><li>K->A at 121: According to PubMed</li><li>W->A at 135: Abolishes interaction with RMI1, TOP3A and BLM</li></ul>								<li>Q9H9A7</li><li>Q9I920</li><li>P54132</li><li>Q13472</li>			1
Q96EB6	23411	<ul><li>H->Y at 363: Loss of function</li></ul>	<li>D->E at 3: in dbSNP rsrs35671182</li><li>V->D at 484: in dbSNP:rs1063111</li>									<li>rs1063111</li><li>rs35671182</li>	3
Q96EK6	64841	<ul><li>E->A at 156: Reduces affinity for glucosamine-6-phosphate 6-fold</li><li>E->D at 156: Slightly reduced catalytic activity</li></ul>				catalytic activity	GO:0003824						1
Q96EP1	55743	<ul><li>T->A at 39: Abolishes phosphorylation but not autoubiquitination; when associated with A-205</li><li>S->A at 205: Abolishes phosphorylation but not autoubiquitination; when associated with A-39</li><li>I->A at 306: Abolishes autoubiquitination in vitro. Does not affect phosphorylation</li><li>W->A at 332: Abolishes autoubiquitination in vitro</li></ul>	<li>P->L at 166: in a patient with NSCLC; homozygous</li><li>R->P at 202: in a patient with NSCLC</li><li>G->R at 270</li><li>A->V at 456: in dbSNP:rs2306541</li><li>A->V at 497: common polymorphism; dbSNP:rs2306541</li><li>F->S at 536: in a patient with NSCLC</li><li>V->M at 580: common polymorphism; dbSNP:rs2306536</li>	phosphorylation	GO:0016310							rs2306541	3
Q96EQ8	54941	<ul><li>G->A at 2: Abolishes ability to regulate T-cell activation but not E3 ligase activity in vitro</li><li>C->A at 37: Abolishes ability to regulate T-cell activation and E3 ligase activity in vitro; when associated with A-41</li><li>C->A at 40: Abolishes ability to regulate T-cell activation and E3 ligase activity in vitro; when associated with A-38</li><li>H->A at 54: Abolishes ability to regulate T-cell activation and E3 ligase activity in vitro; when associated with A-58</li><li>C->A at 57: Abolishes ability to regulate T-cell activation and E3 ligase activity in vitro; when associated with A-55</li><li>C->A at 72: Abolishes ability to regulate T-cell activation and E3 ligase activity in vitro; when associated with A-76</li><li>C->A at 75: Abolishes ability to regulate T-cell activation and E3 ligase activity in vitro; when associated with A-73</li></ul>		T-cell activation	GO:0042110	ligase activity	GO:0016874						1
Q96EY1	9093	<ul><li>H->Q at 121: Loss of modulation of apoptosis</li></ul>	<li>Y->N at 75: in dbSNP:rs4785963</li>	apoptosis	GO:0006915							rs4785963	3
Q96EY5	93343	<ul><li>Y->D at 204: Mimics constitutively phosphorylated form and has the ability to interact with CD2AP and CIN85/SH3KBP1 without EGF treatment</li><li>Y->F at 204: Abolishes interaction with CD2AP and CIN85/SH3KBP1</li></ul>	<li>C->Y at 106: in dbSNP:rs34949802</li>							<li>P26224</li><li>Q9BEA0</li><li>P01132</li><li>Q96B97</li><li>P01133</li><li>Q95ND4</li><li>Q9Y5K6</li><li>Q00968</li><li>P07522</li>		rs34949802	3
Q96F24	29982	<ul><li>LL->AA at 144-145: Decreased interaction with nuclear receptors</li></ul>											1
Q96FI4	79661	<ul><li>P->T at 2: Loss of glycosylase and AP lyase activity</li><li>Missing at 2: Loss of glycosylase activity</li><li>E->Q at 3: Loss of glycosylase and AP lyase activity</li><li>K->L at 54: Loss of glycosylase activity</li><li>R->A at 277: Strongly reduced glycosylase activity. Has little effect on AP lyase activity</li></ul>	<li>S->C at 82: in dnSNP:5745905: in dbSNP rsrs5745905</li><li>G->D at 83: in dnSNP:5745906: in dbSNP rsrs5745906</li><li>C->R at 136: in dnSNP:5745907: in dbSNP rsrs5745907</li><li>I->M at 182: in dnSNP:7183491: in dbSNP rsrs7183491</li><li>D->N at 252: in dbSNP:rs5745926</li>							<li>Q9UZY0</li><li>Q972A8</li><li>O66612</li><li>Q8TXW8</li><li>Q6L1T6</li><li>O15527</li><li>Q9V3I8</li><li>Q58134</li><li>Q6M0G7</li><li>P53397</li><li>O58954</li><li>Q8R689</li><li>Q5UQ00</li><li>Q74MX2</li><li>Q8ZVK6</li><li>Q9X2E1</li><li>O27397</li><li>Q9YE60</li><li>Q5JI79</li><li>O70249</li><li>O29876</li><li>Q97CP1</li><li>Q9HM55</li><li>Q4J929</li><li>Q97ZK2</li><li>Q8U2D5</li><li>O08760</li>		<li>rs5745905</li><li>rs5745906</li><li>rs7183491</li><li>rs5745907</li><li>rs5745926</li>	3
Q96FL8	55244	<ul><li>E->Q at 273: No change in subcellular location and abolition of MATE1-dependent TEA transport activity</li></ul>	<li>V->I at 338: in dbSNP:rs35790011</li>	transport	GO:0006810							rs35790011	3
Q96FT7	55515	<ul><li>G->A at 549: No effect on channel function</li></ul>	<li>P->Q at 614: in dbSNP:rs6436153</li><li>L->R at 616: in dbSNP:rs11689281</li>									<li>rs11689281</li><li>rs6436153</li>	3
Q96FW1	55611	<ul><li>D->E at 88: Abolishes hydrolase activity in vitro</li><li>C->A at 91: Prevents RNF128 autoubiquitination, and stabilizes RNF128 in vivo</li><li>C->S at 91: Abolishes hydrolase activity in vitro</li><li>R->L at 176: No effect on RNF128</li><li>C->A at 212: No effect on RNF128</li><li>H->R at 265: Abolishes hydrolase activity in vitro</li></ul>				hydrolase activity	GO:0016787			<li>Q29RU0</li><li>Q8TEB7</li><li>Q5RF74</li>			1
Q96FZ7	79643	<ul><li>G->A at 2: Abolishes myristoylation</li><li>R->E at 49: Does not affect the subcellular location</li><li>Missing at 168-201: Membrane association; releases autoinhibition</li><li>L->D at 170: Abolishes interaction with VPS4A</li><li>V->D at 173: Abolishes interaction with VPS4A</li><li>L->D at 178: Reduces interaction with VPS4A</li></ul>						Membrane	GO:0016020	Q9UN37			1
Q96G25	112950	<ul><li>L->P at 143: Impairs interaction with the Elongin BC complex; when associated with F-147</li><li>C->F at 147: Impairs interaction with the Elongin BC complex; when associated with P-143</li></ul>											1
Q96G27	23559	<ul><li>Y->A at 141: Abolishes interaction with WWOX</li></ul>								<li>Q5F389</li><li>Q5R9W5</li><li>Q9NZC7</li><li>Q9VLU5</li>			1
Q96G74	55593	<ul><li>C->S at 224: Loss of suppression of IFN production</li><li>L->A at 542: Loss of 'K-48'- and 'K-63'-linked polyubiquitin chain binding. Partial loss of TRAF3 deubiquitination; when associated with A-549</li><li>S->A at 549: Loss of 'K-48'- and 'K-63'-linked polyubiquitin chain binding. Partial loss of TRAF3 deubiquitination; when associated with A-542</li></ul>		deubiquitination	GO:0016579	binding	GO:0005488			<li>P28172</li><li>P51526</li><li>Q13114</li>			1
Q96HE7	30001	<ul><li>C->A at 85: Alters protein folding and stability. Loss of regulatory disulfide bond formation and increased activity towards PDI; when associated with A-131</li><li>C->S at 85: Induces a decrease in activity</li><li>C->S at 94: Induces a decrease in activity towards thioredoxin. Loss of activity towards thioredoxin and loss of regulatory disulfide bond formation; when associated with A-99</li><li>C->A at 99: Acts as a weak dominant-negative mutant. Loss of activity towards thioredoxin. Loss of regulatory disulfide bond formation; when associated with A-94</li><li>C->A at 104: No effect. Strongly increased activity towards PDI; when associated with A-131</li><li>C->S at 104: No effect</li><li>C->A at 131: Loss of regulatory disulfide bond formation and increased activity towards PDI. Loss of regulatory disulfide bond formation and strongly increased activity towards PDI; when associated with A-85. Loss of regulatory disulfide bond formation and strongly increased activity towards PDI; when associated with A-104</li><li>C->A at 166: No effect</li><li>C->A,S at 208: No effect</li><li>C->A,S at 241: No effect</li><li>N->A at 280: No effect on activity</li><li>N->A at 384: No effect on activity</li><li>C->A at 391: Alters protein folding. Prevents formation of regulatory disulfide bond and down-regulation of activity. Decreases association with P4HB</li><li>C->A at 394: Retains activity towards PDI. Does not act as a dominant negative mutant. Induces defects in folding. Remains associated with P4HB</li><li>C->A at 397: Acts as a dominant negative mutant; does not induce defects in folding; remains associated with P4HB</li></ul>		protein folding	GO:0006457					<li>Q12730</li><li>P81108</li><li>Q9PJK3</li><li>P81109</li><li>Q5R9M3</li><li>Q98TX1</li><li>P52588</li><li>P21610</li><li>P52589</li><li>Q9ZEE0</li><li>P80284</li><li>O97508</li><li>O14463</li><li>O22022</li><li>Q57755</li><li>P99122</li><li>P42115</li><li>Q05739</li><li>P32474</li><li>P0A4L4</li><li>Q43116</li><li>P0A4L3</li><li>P80579</li><li>O51088</li><li>O84544</li><li>O17486</li><li>P81110</li><li>P10599</li><li>O83889</li><li>P21609</li><li>P07237</li><li>Q9JWM8</li><li>P0A617</li><li>P0A616</li><li>P29429</li><li>Q5HGT9</li><li>P96132</li><li>P51225</li><li>Q9X2T1</li><li>P09102</li><li>P09103</li><li>P08058</li><li>Q9DGI3</li><li>P59527</li><li>Q8CPL5</li><li>P00276</li><li>P66928</li><li>P17967</li><li>P29451</li><li>Q92JR5</li><li>P10639</li><li>P52233</li><li>Q6GHU0</li><li>Q9UW02</li><li>O51890</li><li>P52230</li><li>P52231</li><li>P46843</li><li>P99505</li><li>P66929</li><li>P50254</li><li>O96952</li><li>Q2HWU2</li><li>Q5R5B6</li><li>O97680</li><li>P37395</li><li>Q9Z7P5</li><li>P11232</li><li>P75512</li><li>P05307</li><li>P14930</li><li>P82460</li><li>Q98PL5</li><li>P47370</li><li>P54399</li><li>P55059</li><li>Q00002</li><li>P04785</li><li>O30974</li><li>Q7M1B9</li><li>Q8R4U2</li><li>Q7KQL8</li><li>Q9R6P9</li><li>P57653</li><li>Q9BDJ3</li><li>Q6GA69</li><li>P50338</li><li>P14949</li><li>Q9CM49</li><li>P08628</li><li>P09857</li><li>P08629</li><li>Q9K1N8</li><li>P43785</li><li>Q5HQ29</li><li>P10473</li><li>P21195</li><li>P10472</li><li>P29828</li><li>P33791</li><li>P34723</li><li>Q9XF61</li><li>Q00248</li><li>P22549</li><li>P0A0K6</li><li>P0A0K5</li><li>P0A0K4</li><li>P50413</li><li>P52227</li>			1
Q96HI0	205564	<ul><li>C->A at 713: Abolishes enzymatic activity</li></ul>											1
Q96HS1	192111	<ul><li>E->A at 79: Loss of interaction with KEAP1; when associated with A-80</li><li>S->A at 80: Loss of interaction with KEAP1; when associated with A-79</li></ul>								Q14145			1
Q96J02	83737	<ul><li>C->A at 871: Loss of ubiquitin protein ligase activity</li></ul>								<li>Q9UVR2</li><li>O74196</li><li>P35130</li><li>Q5UQC9</li><li>Q5UQ88</li><li>O00103</li><li>P16577</li><li>O00102</li><li>P35128</li><li>P14682</li><li>P52492</li><li>P25153</li><li>P29340</li><li>P25866</li><li>P27949</li><li>P25867</li><li>P61087</li><li>P25869</li><li>P28263</li><li>P42743</li><li>P61085</li><li>P50623</li><li>P61086</li><li>Q02159</li><li>P49427</li><li>P35135</li><li>P49428</li><li>Q29503</li><li>P52487</li><li>P21734</li><li>P52486</li><li>P52485</li><li>O60015</li><li>Q5UQ57</li><li>P15732</li><li>Q8CFI2</li>			1
Q96JN0	84458	<ul><li>LL->AA at 56-57: Loss of estradiol-dependent interaction with ESR1 and ESR2</li></ul>								<li>Q9XSW2</li><li>Q91250</li><li>Q29040</li><li>P38111</li><li>Q9YHT3</li><li>P50242</li><li>P50241</li><li>P50240</li><li>Q9PVE2</li><li>P06212</li><li>Q95171</li><li>Q53AD2</li><li>P49885</li><li>Q9W6M2</li><li>P49886</li><li>O13012</li><li>O42132</li><li>Q9QZJ5</li><li>Q9TV98</li><li>Q9IAK1</li><li>P49884</li><li>Q9PTU5</li><li>Q91424</li><li>O93511</li><li>P03372</li><li>P16058</li><li>Q92731</li><li>Q9YH33</li><li>Q9PVZ9</li><li>Q9YH32</li><li>P57753</li><li>P57781</li><li>P57782</li><li>Q9TU15</li><li>Q9XSB5</li><li>Q9YHZ7</li><li>Q9TTE5</li>			1
Q96JY6	64236	<ul><li>L->K at 80: Abolishes cell adhesion to collagen and ability to suppress anchorage independent growth</li><li>C->S at 313: Abolishes ability to suppress anchorage independent growth but not cell adhesion to collagen; when associated with S-316</li><li>C->S at 316: Abolishes ability to suppress anchorage independent growth but not cell adhesion to collagen; when associated with S-313</li></ul>		cell adhesion	GO:0007155			collagen	GO:0005581				1
Q96JZ2	84941	<ul><li>PLPP->ALPA at 10-13: No change in the ability to inhibit RE/AP up-regulation in response to TCR/CD28 stimulation</li><li>R->K at 59: Loss of the ability to inhibit RE/AP up-regulation in response to TCR/CD28 stimulation</li><li>P->A at 116: No change in the ability to inhibit RE/AP up-regulation in response to TCR/CD28 stimulation</li><li>Y->F at 135: No change in the ability to inhibit RE/AP up-regulation in response to TCR/CD28 stimulation</li><li>PKSP->AKSA at 192-195: No change in the ability to inhibit RE/AP up-regulation in response to TCR/CD28 stimulation</li><li>Y->F at 341: No change in the ability to inhibit RE/AP up-regulation in response to TCR/CD28 stimulation</li><li>PFAP->AFAA at 346-349: No change in the ability to inhibit RE/AP up-regulation in response to TCR/CD28 stimulation</li></ul>						TCR	GO:0042101	<li>O02757</li><li>P42069</li><li>P31043</li><li>Q28071</li><li>P10747</li>			1
Q96KB5	55872	<ul><li>T->E at 9: TP53-binding</li><li>KK->AA at 64-65: Loss of activity</li><li>T->A at 320: Decrease in the binding to DLG1</li><li>V->A at 322: Decrease in the binding to DLG1</li></ul>	<li>N->S at 107: in dbSNP:rs3779620</li><li>E->D at 220: in dbSNP:rs17057901</li><li>M->L at 241: in dbSNP rsrs36086402</li>			binding	GO:0005488			<li>Q9TUB2</li><li>P56423</li><li>P56424</li><li>O12946</li><li>P25035</li><li>O36006</li><li>Q64662</li><li>O57538</li><li>P61260</li><li>P10360</li><li>Q9W679</li><li>P13481</li><li>Q9W678</li><li>Q9TTA1</li><li>Q95330</li><li>O93379</li><li>P41685</li><li>Q8SPZ3</li><li>P79820</li><li>Q92143</li><li>P04637</li><li>Q29537</li><li>Q29480</li><li>O09185</li><li>Q00366</li><li>P79892</li><li>P51664</li><li>P67939</li><li>Q9WUR6</li><li>P67938</li><li>Q12959</li>		<li>rs17057901</li><li>rs36086402</li><li>rs3779620</li>	3
Q96KG7	84466	<ul><li>N->A at 927: Does not interact with GULP1; when associated with A-930</li><li>Y->A at 930: Does not interact with GULP1; when associated with A-927</li></ul>	<li>V->I at 206: in dbSNP:rs3812054</li><li>P->L at 897: in dbSNP:rs13183625</li><li>R->K at 1072: in dbSNP:rs17164935</li>									<li>rs3812054</li><li>rs17164935</li><li>rs13183625</li>	3
Q96KK5	85235	<ul><li>S->A at 2: Blocks the inhibition of transcription by RPS6KA5/MSK1</li></ul>		transcription	GO:0006350					<li>P32048</li><li>Q5F3L1</li><li>Q5R4K3</li><li>O75582</li>			1
Q96KN2	84735	<ul><li>H->A at 132: Loss of activity</li><li>D->A at 165: Loss of activity</li><li>E->A at 200: Loss of activity</li></ul>	<li>G->R at 6: in dbSNP:rs11151964</li><li>L->LL at 20</li><li>V->I at 113: in dbSNP:rs4263028</li>									<li>rs11151964</li><li>rs4263028</li>	3
Q96KS0	112398	<ul><li>H->A at 297: Eliminates hydroxylase activity</li><li>D->A at 299: Eliminates hydroxylase activity</li><li>H->A at 358: Eliminates hydroxylase activity</li><li>R->A at 367: Eliminates hydroxylase activity</li></ul>											1
Q96L50	122769	<ul><li>HIIP->AAA at 341-344: Abolishes interaction with CUL2 and RBX1</li></ul>	<li>I->N at 96: in dbSNP:rs17121605</li><li>R->W at 229: in dbSNP:rs7148147</li>							<li>Q08273</li><li>P62877</li><li>Q13617</li><li>Q8QG64</li><li>Q5RCF3</li>		<li>rs7148147</li><li>rs17121605</li>	3
Q96LC7	89790	<ul><li>Y->F at 667: Abolishes binding to PTPN6</li></ul>	<li>A->V at 226: in dbSNP:rs9304711</li><li>R->S at 520: in dbSNP:rs1833785</li>			binding	GO:0005488			P29350		<li>rs9304711</li><li>rs1833785</li>	3
Q96LD8	123228	<ul><li>D->A at 10: No effect on activity</li><li>W->A at 26: Strongly reduces activity</li><li>D->A,N at 29: Abolishes activity</li><li>V->A at 58: No effect on activity</li><li>F->A at 74: No effect on activity</li><li>P->A at 77: No effect on activity</li><li>N->A at 91: Abolishes activity</li><li>H->N at 102: Abolishes activity</li><li>W->A,H at 103: Strongly reduces activity</li><li>D->A,N at 119: Abolishes activity</li><li>Q->A at 157: No effect on activity</li><li>C->A at 163: Abolishes activity</li></ul>	<li>T->A at 207: in dbSNP:rs930871</li>									rs930871	3
Q96LI5	246175	<ul><li>D->A at 410: Loss of deadenylase activity</li><li>D->A at 489: Loss of deadenylase activity</li><li>H->A at 529: Loss of deadenylase activity</li></ul>											1
Q96LW7	84270	<ul><li>L->A at 17: Abolishes the NF-kappa-B inhibitory activity</li><li>L->A at 65: Abolishes the NF-kappa-B inhibitory activity</li></ul>											1
Q96MF7	286053	<ul><li>C->A at 169: Induces a strong decrease in SUMO ligase activity</li><li>C->A at 185: Induces a strong decrease in SUMO ligase activity</li><li>H->A at 187: Induces a strong decrease in SUMO ligase activity</li><li>C->A at 210: Induces a strong decrease in SUMO ligase activity</li><li>C->A at 215: Induces a strong decrease in SUMO ligase activity</li></ul>	<li>L->F at 27: in a breast cancer sample; somatic mutation</li><li>V->A at 66: in dbSNP:rs11542104</li>			ligase activity	GO:0016874					rs11542104	3
Q96MH2	124790	<ul><li>T->A at 143: Loss of interaction with P-TEFb</li><li>T->D at 143: Loss of interaction with P-TEFb</li></ul>											1
Q96MT3	144165	<ul><li>Missing at 828-831: Abolishes localization to the nuclear membrane</li></ul>	<li>R->Q at 104: in EPM1B; affects interaction with REST, MIM: 612437</li>	localization	GO:0051179			nuclear membrane	GO:0005635		Progressive myoclonic epilepsy type 1B (EPM1B) [MIM:612437]		3
Q96NA2	83547	<ul><li>F->A at 248: Strongly reduces dimerization and localization to late endosomal/lysosomal compartments</li><li>I->A at 251: Abolishes dimerization, interaction with RAB7 and localization to late endosomal/lysosomal compartments</li><li>L->A at 252: Abolishes interaction with RAB7 and localization to late endosomal/lysosomal compartments</li><li>R->A at 255: Abolishes dimerization, interaction with RAB7 and localization to late endosomal/lysosomal compartments</li><li>L->A at 258: Reduces dimerization, interaction with RAB7 and localization to late endosomal/lysosomal compartments</li><li>K->A at 304: Abolishes interaction with RAB7 and localization to late endosomal/lysosomal compartments</li><li>M->A at 305: Abolishes interaction with RAB7 and localization to late endosomal/lysosomal compartments</li><li>L->A at 306: Abolishes interaction with RAB7 and localization to late endosomal/lysosomal compartments</li></ul>	<li>A->T at 81: in dbSNP:rs9909321</li><li>R->Q at 281: in dbSNP:rs34982553</li>	localization	GO:0051179					<li>Q3T0F5</li><li>O04157</li><li>O97572</li><li>P18067</li><li>P51149</li><li>Q9XER8</li><li>Q5R9Y4</li>		<li>rs34982553</li><li>rs9909321</li>	3
Q96NY9	80198	<ul><li>GD->AE at 306-307: Loss of activity</li><li>ER->AG at 333-334: Loss of activity</li><li>DD->AA at 338-339: Loss of activity</li></ul>	<li>R->H at 37: in dbSNP:rs13817</li><li>R->P at 180: in dbSNP:rs545500</li><li>L->F at 189: in dbSNP:rs2298447</li><li>R->W at 350: in dbSNP:rs34891773</li><li>Q->H at 481: in dbSNP:rs765593</li>									<li>rs2298447</li><li>rs13817</li><li>rs34891773</li><li>rs545500</li><li>rs765593</li>	3
Q96P31	115352	<ul><li>Y->F at 650: Loss of phosphorylation; when associated with F-662; F-692 and F-722. Alters binding with SYK and ZAP70; when associated with F-662</li><li>Y->F at 662: Loss of phosphorylation; when associated with F-650; F-692 and F-722. Alters binding with SYK and ZAP70; when associated with F-650</li><li>Y->F at 692: Loss of phosphorylation; when associated with F-650; F-662 and F-722. Alters binding with PTPN6 and PTPN11; when associated with F-772</li><li>Y->F at 722: Loss of phosphorylation; when associated with F-650; F-662 and F-692. Alters binding with PTPN6 and PTPN11; when associated with F-692</li></ul>	<li>N->D at 28: in dbSNP:rs7522061</li><li>L->F at 307: in dbSNP:rs12041673</li><li>H->N at 445: in a breast cancer sample; somatic mutation</li><li>P->L at 660: in dbSNP:rs944627</li><li>N->S at 721: in dbSNP:rs2282284</li>	phosphorylation	GO:0016310	binding	GO:0005488			<li>Q00655</li><li>P29350</li><li>P43403</li><li>P43405</li><li>Q06124</li><li>Q90687</li>		<li>rs944627</li><li>rs12041673</li><li>rs2282284</li><li>rs7522061</li>	3
Q96PC2	117283	<ul><li>K->A at 217: Loss of activity</li><li>S->A at 325: Strongly reduces activity</li></ul>	<li>R->W at 60: in dbSNP:rs34431226</li><li>A->V at 308: in dbSNP:rs34573836</li><li>V->I at 312: in dbSNP:rs4713668</li><li>Y->S at 378: in dbSNP:rs34343647</li>									<li>rs34431226</li><li>rs34343647</li><li>rs34573836</li><li>rs4713668</li>	3
Q96PD5	114770	<ul><li>H->A at 411: No effect on amidase activity</li><li>C->A at 419: Abolishes amidase activity</li><li>H->A at 436: No effect on amidase activity</li><li>W->A at 442: Reduced amidase activity</li><li>Y->A at 447: Abolishes amidase activity</li><li>C->S at 530: Abolishes amidase activity</li></ul>	<li>T->A at 46: in dbSNP:rs3813135</li><li>R->Q at 99: in dbSNP:rs733731</li><li>T->N at 257: in dbSNP:rs28404490</li><li>M->K at 270: in dbSNP:rs892145</li><li>R->Q at 394: in dbSNP:rs34440547</li><li>R->W at 476: in dbSNP:rs2304200</li>							<li>P22984</li><li>O69768</li><li>P95896</li><li>P27765</li>		<li>rs2304200</li><li>rs3813135</li><li>rs892145</li><li>rs28404490</li><li>rs34440547</li><li>rs733731</li>	3
Q96PH1	79400	<ul><li>E->Q at 49: Loss of binding of 1 calcium molecule. No effect on catalytic activity</li></ul>				<li>binding</li><li>catalytic activity</li>	<li>GO:0005488</li><li>GO:0003824</li>						1
Q96PJ5	83417	<ul><li>Y->F at 451: No effect on function, phosphorylation and interaction with PTPN6 and PTPN11</li><li>Y->F at 463: Loss of function, phosphorylation and interaction with PTPN6 and PTPN11</li><li>Y->F at 493: Loss of interaction with PTPN6 and PTPN11 and partial loss of function and phosphorylation</li></ul>	<li>R->Q at 60: in dbSNP:rs11582663</li><li>N->S at 255: in dbSNP:rs4561035</li><li>K->R at 457: in dbSNP:rs2039401</li><li>Y->C at 493: in dbSNP:rs3811028</li><ul><li>Y->F at 493: Loss of interaction with PTPN6 and PTPN11 and partial loss of function and phosphorylation</li></ul>	phosphorylation	GO:0016310					<li>P29350</li><li>Q06124</li><li>Q90687</li>		<li>rs2039401</li><li>rs4561035</li><li>rs11582663</li><li>rs3811028</li>	4
Q96PU5	23327	<ul><li>S->A at 448: Abolishes interaction with 1433F</li><li>C->S at 942: Abolishes activity</li></ul>	<li>P->L at 355: common polymorphism; impaired ability to inhibit SCNN</li><li>S->R at 497</li>										3
Q96Q15	23049	<ul><li>D->A at 2331: Loss of function</li></ul>	<li>A->T at 31</li><li>R->C at 122</li><li>S->C at 140</li><li>N->Y at 147</li><li>D->N at 156</li><li>A->V at 163</li><li>D->G at 316</li><li>G->S at 461</li><li>H->R at 542</li><li>A->S at 584</li><li>K->I at 608</li><li>S->C at 749</li><li>S->C at 805</li><li>R->C at 808</li><li>V->I at 825</li><li>N->D at 828</li><li>A->G at 948</li><li>N->S at 965</li><li>F->L at 1012</li><li>R->Q at 1025</li><li>T->S at 1068</li><li>N->H at 1099</li><li>P->R at 1271</li><li>Q->P at 1288</li><li>I->V at 1328</li><li>S->P at 1354</li><li>R->T at 1414</li><li>S->C at 2167: in a breast pleomorphic lobular carcinoma sample; somatic mutation</li><li>G->S at 2254</li><li>M->K at 2341</li><li>Q->E at 2726</li><li>G->S at 2885</li><li>P->A at 2895</li><li>I->T at 3235: in a breast infiltrating ductal carcinoma sample; somatic mutation</li><li>K->Q at 3579: in a breast infiltrating ductal carcinoma sample; somatic mutation</li>										3
Q96Q27	51676	<ul><li>L->P at 548: No interaction with Elongin BC complex</li><li>LC->PF at 551-552: No interaction with CUL5 or RNF7</li><li>C->P at 552: No interaction with Elongin BC complex</li><li>LPLP->AAAA at 571-574: No interaction with CUL5 or RNF7</li></ul>	<li>P->S at 160: in dbSNP:rs2295213</li>							<li>Q9UBF6</li><li>Q5RB36</li><li>Q29425</li><li>Q93034</li>		rs2295213	3
Q96Q83	221120	<ul><li>R->A at 122: Decreases activity towards ssDNA by 25%. Loss of activity towards dsDNA</li><li>E->A at 123: Strongly increases activity towards dsDNA, possibly by facilitating access to the active site</li><li>R->A at 131: Loss of activity</li><li>L->A,N at 177: Loss of activity against 1-methyladenine</li><li>L->E,Q at 177: Loss of activity</li><li>L->I at 177: Decreases activity against 1-methyladenine</li><li>L->M at 177: No effect</li><li>N->A at 179: Decreases activity by about 60%</li><li>Y->A at 181: Strong decrease of activity</li><li>D->A at 189: Strongly increases activity towards dsDNA, possibly by facilitating access to the active site</li><li>H->A at 191: Loss of activity</li><li>D->A at 193: Loss of activity</li><li>H->A at 257: Decreases activity by about 65%</li><li>R->A at 269: Strong decrease of activity</li><li>N->A at 271: No effect</li><li>R->A at 275: Loss of activity</li></ul>	<li>R->C at 164: in dbSNP:rs2271815</li><li>D->E at 228: in dbSNP:rs2434470</li>									<li>rs2271815</li><li>rs2434470</li>	3
Q96QE3	79915	<ul><li>S->A at 1169: No effect on the RAD9A interaction after MMS exposure. Resists to DNA damage after MMS exposure</li><li>S->A at 1187: Weakly affects the RAD9A interaction after MMS exposure</li><li>C->G at 1430: Abolishes RB1 binding. Abolishes RB1 binding; when associated with K-1432. Weakly detected after methyl methane-sulfonate (MMS) treatment. Expression detected after MMS treatment; when associated with K-1432. Weakly affects the RAD9A interaction after MMS exposure. No effect on the RAD9A interaction after MMS exposure; when associated with K-1432. Resists to DNA damage after MMS exposure; when associated with K-1432</li><li>E->K at 1432: Abolishes RB1 binding; when associated with G-1430. Expression detected after methyl methane-sulfonate (MMS) treatment; when associated with G-1430. No effect on the RAD9A interaction after MMS exposure; when associated with G-1430. Resists to DNA damage after MMS exposure; when associated with G-1430</li></ul>	<li>T->S at 35: in dbSNP:rs9910051</li><li>P->S at 87: in dbSNP:rs3816780</li><li>E->G at 135: in dbSNP:rs11080134</li><li>R->K at 249: in dbSNP:rs17826219</li><li>N->H at 699: in dbSNP:rs3764421</li><li>Y->H at 1419: in dbSNP:rs11657270</li>			binding	GO:0005488			<li>P06400</li><li>Q99638</li><li>Q4R5X9</li>		<li>rs3764421</li><li>rs3816780</li><li>rs17826219</li><li>rs11657270</li><li>rs11080134</li><li>rs9910051</li>	3
Q96QT4	54822	<ul><li>K->R at 1648: Loss of kinase activity</li><li>G->D at 1799: Loss of kinase activity</li></ul>	<li>G->V at 68: in dbSNP rsrs56064201</li><li>S->C at 406: in an ovarian serous carcinoma sample; somatic mutation</li><li>I->T at 459: in dbSNP rsrs55924090</li><li>K->N at 574: in dbSNP rsrs56040619</li><li>T->S at 720: in a breast infiltrating ductal carcinoma sample; somatic mutation</li><li>M->V at 830: in a gastric adenocarcinoma sample; somatic mutation</li><li>F->Y at 949: in dbSNP rsrs55681028</li><li>A->G at 1033: in dbSNP:rs34530969</li><li>Q->R at 1064: in dbSNP rsrs56298128</li><li>I->V at 1145: in dbSNP:rs34711809</li><li>I->T at 1211: in dbSNP rsrs56090496</li><li>A->V at 1254: in dbSNP rsrs56288221</li><li>D->E at 1306: in dbSNP rsrs55970334</li><li>R->K at 1444: in dbSNP rsrs55840070</li><li>T->I at 1482: mutant channels are functional but show increased susceptibility to inhibition by intracellular magnesium concentrations compared to wild-type channels; dbSNP:rs8042919</li>			kinase activity	GO:0016301	intracellular	GO:0005622			<li>rs55970334</li><li>rs55681028</li><li>rs55840070</li><li>rs55924090</li><li>rs56288221</li><li>rs34530969</li><li>rs56090496</li><li>rs56040619</li><li>rs56064201</li><li>rs8042919</li><li>rs34711809</li><li>rs56298128</li>	3
Q96QV6	221613	<ul><li>S->A at 2: Blocks the inhibition of transcription by RPS6KA5/MSK1</li></ul>		transcription	GO:0006350					<li>P32048</li><li>Q5F3L1</li><li>Q5R4K3</li><li>O75582</li>			1
Q96RG2	23178	<ul><li>K->R at 1028: Loss of autophosphorylating activity</li><li>T->A at 1161: Loss of catalytic activity</li><li>T->A at 1165: Loss of catalytic activity</li></ul>	<li>E->K at 11: in a metastatic melanoma sample; somatic mutation</li><li>V->I at 250: in dbSNP:rs1470414</li><li>Q->R at 426: in dbSNP:rs35187712</li><li>T->A at 512: in dbSNP rsrs56033464</li><li>L->S at 514: in dbSNP:rs2240543</li><li>P->R at 684: in dbSNP rsrs56372985</li><li>V->M at 694: in dbSNP:rs6727226</li><li>G->D at 725: in dbSNP:rs2005771</li><li>E->K at 796: in dbSNP:rs35129131</li><li>P->Q at 844: in dbSNP:rs36082918</li><li>R->H at 937: in dbSNP rsrs56139954</li><li>V->M at 1210: in dbSNP:rs10167000</li><li>F->C at 1266: in dbSNP:rs1131293</li><li>P->S at 1301</li>			catalytic activity	GO:0003824					<li>rs56139954</li><li>rs2240543</li><li>rs36082918</li><li>rs1131293</li><li>rs56033464</li><li>rs1470414</li><li>rs56372985</li><li>rs35129131</li><li>rs2005771</li><li>rs10167000</li><li>rs6727226</li><li>rs35187712</li>	3
Q96RI0	9002	<ul><li>R->A at 47: No proteolytic cleavage (by thrombin or trypsin)</li><li>R->A at 68: No effect on receptor activation</li></ul>	<li>A->T at 120: in dbSNP:rs773902</li><li>R->Q at 215: in dbSNP:rs2230799</li><li>F->V at 296: in dbSNP:rs2227346</li><li>P->L at 310: in dbSNP:rs2227376</li>							<li>P24664</li><li>Q59149</li><li>P84122</li><li>P35050</li><li>P23916</li><li>P83348</li>		<li>rs2227346</li><li>rs773902</li><li>rs2230799</li><li>rs2227376</li>	3
Q96RJ3	115650	<ul><li>C->Y at 24: Abolishes a disulfide bond and thereby changes the specificity, so that both TNFSF13B and TNFSF13 can be bound</li><li>D->A at 26: Strongly reduced affinity for TNFSF13B</li><li>L->A at 28: Strongly reduced affinity for TNFSF13B</li><li>C->S at 35: Abolishes a disulfide bond and thereby changes the specificity, so that both TNFSF13B and TNFSF13 can be bound</li></ul>								<li>Q9Y275</li><li>O75888</li>			1
Q96RN1	116369	<ul><li>P->S at 914: Not a cause of male infertility</li></ul>	<li>V->M at 73: not a cause of male infertility; dbSNP:rs743923</li><li>I->V at 148: not a cause of male infertility; dbSNP:rs17713154</li><li>S->N at 230: not a cause of male infertility; dbSNP:rs17707331</li><li>I->V at 639: not a cause of male infertility; dbSNP:rs2295852</li>									<li>rs17713154</li><li>rs743923</li><li>rs17707331</li><li>rs2295852</li>	3
Q96RN5	51586	<ul><li>E->A at 42: Abrogates interaction with SREBF1</li><li>L->D at 58: Abrogates interaction with SREBF1</li><li>A->D at 60: Abrogates interaction with SREBF1</li></ul>	<li>Missing at 261-262</li>							<li>P36956</li><li>O97676</li><li>Q60416</li>			3
Q96RU3	23048	<ul><li>L->E at 7: Impairs membrane tubulation but does not affect lipid-binding</li><li>K->Q at 33: Impairs lipid-binding and induction of membrane tubulation; when associated with Q-35</li><li>R->Q at 35: Impairs lipid-binding and induction of membrane tubulation; when associated with Q-33</li><li>KK->QQ at 51-52: Impairs lipid-binding and induction of membrane tubulation</li><li>RK->QQ at 113-114: Impairs lipid-binding and induction of membrane tubulation</li><li>Missing at 515-520: Abrogates interaction with TNKS</li><li>R->A at 515: Impairs interaction with TNKS</li><li>D->A at 519: Impairs interaction with TNKS; when associated with A-515</li><li>P->L at 602: Abrogates interaction with DNM1, DNM2 and DNM3</li></ul>	<li>S->N at 490: in dbSNP:rs1023000</li>			lipid-binding	GO:0008289	membrane	GO:0016020	<li>O95271</li><li>Q05193</li><li>Q9UQ16</li><li>P50570</li><li>P54861</li>		rs1023000	3
Q96S21	57799	<ul><li>LPLP->AAAA at 212-215: Abolishes interaction with RNF7 and CUL5</li><li>HL->AA at 221-222: Abolishes interaction with RNF7</li></ul>								<li>Q9UBF6</li><li>Q5RB36</li><li>Q29425</li><li>Q93034</li>			1
Q96SB4	6732	<ul><li>S->A at 37: No effect on protein phosphorylation</li><li>S->A at 51: Protein phosphorylation impaired at this position</li><li>S->A at 222: No effect on protein phosphorylation</li><li>S->G at 311: No effect on protein phosphorylation</li><li>S->G at 436: No effect on protein phosphorylation</li><li>S->A at 555: Protein phosphorylation impaired at this position</li><li>S->A at 619: No effect on protein phosphorylation</li></ul>	<li>I->T at 72: in dbSNP:rs35519113</li>	phosphorylation	GO:0016310							rs35519113	3
Q96SD1	64421	<ul><li>D->N,A at 17: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination</li><li>H->A at 33: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination</li><li>H->A at 35: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination</li><li>D->N,A at 37: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination</li><li>H->A at 38: Reduces PRKDC-dependent endonuclease activity, although V(D)J recombination is largely normal</li><li>H->A at 115: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination</li><li>D->N,A at 136: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination</li><li>D->N,A at 165: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination</li><li>H->A at 319: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination</li><li>S->A at 516: Reduced IR induced phosphorylation; when associated with A-534; A-538; A-548; A-553; A-561 and A-562</li><li>S->A at 534: Reduced IR induced phosphorylation; when associated with A-516; A-538; A-548; A-553; A-561 and A-562</li><li>S->A at 538: Reduced IR induced phosphorylation; when associated with A-516; A-534; A-548; A-553; A-561 and A-562</li><li>S->A at 548: Reduced IR induced phosphorylation; when associated with A-516; A-534; A-538; A-553; A-561 and A-562</li><li>S->A at 553: Reduced IR induced phosphorylation; when associated with A-516; A-534; A-538; A-548; A-561 and A-562</li><li>S->A at 561: Reduced IR induced phosphorylation; when associated with A-516; A-534; A-538; A-548; A-553 and A-562</li><li>S->A at 562: Reduced IR induced phosphorylation; when associated with A-516; A-534; A-538; A-548; A-553 and A-561</li></ul>	<li>H->D at 35: in Omenn syndrome, MIM: 603554</li><ul><li>H->A at 35: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination</li></ul><li>G->V at 118: in RS-SCID, MIM: 603554</li></ul><li>G->E at 135: in RS-SCID, MIM: 603554</li></ul><li>P->R at 171: in dbSNP:rs35441642, MIM: 603554</li></ul><li>H->R at 243: in dbSNP:rs12768894, MIM: 603554</li></ul><li>S->C at 320: in dbSNP:rs41298896, MIM: 603554</li></ul>	phosphorylation	GO:0016310					<li>P04323</li><li>P20825</li><li>P10399</li><li>P10978</li><li>P78527</li><li>P00641</li><li>Q00962</li><li>P38446</li><li>Q8QGX4</li><li>P15629</li><li>P13717</li><li>P05400</li><li>P03554</li><li>Q03269</li><li>P03556</li><li>P03555</li><li>Q03277</li><li>P10394</li><li>Q03278</li><li>Q03275</li><li>Q05118</li><li>Q03276</li><li>P11283</li><li>P16423</li><li>Q03273</li><li>Q03274</li><li>Q03271</li><li>P09523</li><li>Q03272</li><li>P11369</li><li>Q03270</li><li>Q8I7P9</li><li>P11367</li><li>Q02964</li><li>P20314</li><li>P10400</li><li>Q8WN22</li><li>Q03279</li><li>P10401</li>	Omenn syndrome (OS) [MIM:603554]	<li>rs12768894</li><li>rs35441642</li><li>rs41298896</li>	4
Q96T51	80230	<ul><li>Y->F at 389: Abolishes phosphorylation and endosomal targeting; when associated with F-400</li><li>Y->F at 400: Abolishes phosphorylation and endosomal targeting; when associated with F-389</li></ul>	<li>C->F at 267: in a breast cancer sample; somatic mutation</li><li>H->Q at 298: in dbSNP:rs6879322</li>	phosphorylation	GO:0016310							rs6879322	3
Q96T53	619373	<ul><li>H->A at 338: Abolishes ability to acylate ghrelin</li></ul>	<li>G->E at 231: in dbSNP:rs16876563</li>							<li>Q9EQX0</li><li>Q6BEG6</li><li>Q9BDJ6</li><li>Q9UBU3</li><li>Q6BEG7</li><li>Q9BEF8</li><li>Q9QYH7</li><li>Q9GKY5</li>		rs16876563	3
Q96T88	29128	<ul><li>S->A at 298: Diminishes in vitro phosphorylation by PKA</li><li>S->A at 651: No effect on in vitro phosphorylation by PKA</li><li>S->A at 666: No effect on in vitro phosphorylation by PKA</li></ul>	<li>D->H at 240: in dbSNP rsrs17886098</li><li>E->K at 379: in dbSNP:rs17885791</li><li>A->T at 638: in dbSNP:rs17883331</li><li>T->M at 642: in dbSNP rsrs17884843</li><li>L->F at 713</li>	phosphorylation	GO:0016310	PKA	GO:0004691					<li>rs17885791</li><li>rs17884843</li><li>rs17886098</li><li>rs17883331</li>	3
Q99426	1155	<ul><li>S->A at 65: Reduced phosphorylation by PAK1. Reduced microtubule polymerization and loss of phosphorylation by PAK1; when associated with A-128</li><li>S->A at 128: Reduced phosphorylation by PAK1. Reduced microtubule polymerization and loss of phosphorylation by PAK1; when associated with A-65</li></ul>		<li>phosphorylation</li><li>microtubule polymerization</li>	<li>GO:0016310</li><li>GO:0046785</li>					<li>Q13153</li><li>P38990</li><li>P40494</li><li>Q17850</li>			1
Q99459	988	<ul><li>W->G at 31: Abolishes DNA-binding; when associated with G-53 and G-82</li><li>W->G at 53: Abolishes DNA-binding; when associated with G-31 and G-82</li><li>W->G at 82: Abolishes DNA-binding; when associated with G-31 and G-53</li></ul>	<li>Y->C at 459: in dbSNP:rs11572006</li>			DNA-binding	GO:0003677					rs11572006	3
Q99496	6045	<ul><li>C->W at 51: Strong decrease in HIP2-binding; when associated with S-54</li><li>C->S at 54: Strong decrease in HIP2-binding; when associated with W-51</li><li>H->Y at 69: Loss of HIP2-binding and loss of ubiquitin ligase activity on histone H2A</li><li>R->C at 70: Loss of ubiquitin ligase activity on histone H2A</li></ul>				<li>binding</li><li>ligase activity</li>	<li>GO:0005488</li><li>GO:0016874</li>			<li>P08565</li><li>P68196</li><li>O46543</li><li>P68197</li><li>Q05550</li><li>P68198</li><li>P68199</li><li>P68195</li><li>P27325</li><li>P02264</li><li>P61863</li><li>P61864</li><li>P61862</li><li>P23398</li><li>Q6PV61</li><li>P84589</li><li>Q8MKD1</li><li>P02269</li><li>P14792</li><li>P02268</li><li>P35061</li><li>P59890</li><li>Q9HGX4</li><li>P63049</li><li>P35066</li><li>P02270</li><li>P63051</li><li>P13912</li><li>Q6WV88</li><li>P15174</li><li>P62976</li><li>Q6CK59</li><li>P62977</li><li>P62974</li><li>P62975</li><li>P62972</li><li>P13117</li><li>P14624</li><li>P62973</li><li>P82897</li><li>P19178</li><li>P19177</li><li>P0C014</li><li>P59263</li><li>Q5KMT5</li><li>P61085</li><li>Q4WWC6</li><li>P61086</li><li>P22589</li><li>P62988</li><li>P62989</li><li>P09588</li><li>Q4PEF9</li><li>P59669</li><li>P69326</li><li>Q6WV67</li><li>P69322</li><li>Q6WV66</li><li>P69323</li><li>Q6WV69</li><li>P69324</li><li>Q8X132</li><li>P69325</li><li>O13413</li><li>P19848</li><li>P42739</li><li>Q867C2</li><li>Q9M531</li><li>P62991</li><li>O74268</li><li>Q6C4I6</li><li>P62990</li><li>P21896</li><li>Q867C4</li><li>Q867C3</li><li>Q8SSG3</li><li>P68204</li><li>Q8I0T3</li><li>P68201</li><li>P42740</li><li>Q865C5</li><li>Q2U5A8</li><li>P0C072</li><li>P40280</li><li>P69308</li><li>P69309</li><li>P20685</li><li>P55897</li><li>P40279</li><li>P84056</li><li>P84055</li><li>P46574</li><li>P84057</li><li>P84052</li><li>P50567</li><li>P84051</li><li>P69310</li><li>P84054</li><li>P84053</li><li>P69313</li><li>P69314</li><li>P69311</li><li>P69312</li><li>P08618</li><li>P69317</li><li>P69318</li><li>P69315</li><li>P69316</li><li>Q4HTT1</li><li>P69319</li><li>Q5G578</li><li>P49634</li><li>P49635</li><li>Q9Y848</li><li>Q875B8</li><li>P40282</li><li>P08844</li><li>P69321</li><li>P23324</li><li>P69320</li><li>P13630</li>			1
Q99497	11315	<ul><li>C->A at 46: Reduces protein stability. No effect on oxidation</li><li>C->A at 53: Strongly reduces chaperone activity</li><li>C->A,D at 106: Abolishes oxidation and association with mitochondria. No effect on chaperone activity</li><li>K->R at 130: Partially compensates for loss of stability; when associated with P-166</li></ul>	<li>M->I at 26: in PARK7; does not affect protein stability and degradation; does not interfere with homodimerization;, MIM: 606324</li><li>E->D at 64: in PARK7; no apparent effect on protein stability, MIM: 606324</li><li>R->Q at 98, MIM: 606324</li><li>A->T at 104: in PARK7, MIM: 606324</li><li>D->A at 149: in PARK7, MIM: 606324</li><li>G->S at 150, MIM: 606324</li><li>E->K at 163, MIM: 606324</li><li>L->P at 166: in PARK7; reduces protein stability and leads to increased degradation; interferes with homodimerization; abolishes interaction with PIAS2; strongly reduces chaperone activity, MIM: 606324</li><li>A->S at 171, MIM: 606324</li>							<li>O75928</li><li>Q5E946</li><li>Q95LI9</li><li>Q7TQ35</li><li>Q99497</li><li>Q8UW59</li>	Autosomal recessive early-onset Parkinson disease 7 (PARK7) [MIM:606324, 168600]		3
Q99519	4758	<ul><li>Y->A at 412: Correct sorting to the plasma membrane but no endocytosis and internalization</li><li>G->A at 413: Correct sorting to the plasma membrane but no endocytosis and internalization</li><li>L->A at 415: Correct sorting to the plasma membrane but no endocytosis and internalization</li></ul>	<li>V->M at 54: in sialidosis; type 1; mild mutation as residual activity is still measurable, MIM: 256550</li><li>G->V at 68: in sialidosis; type 2; less than 10% of activity, MIM: 256550</li><li>P->L at 80: in sialidosis; type 2; no enzyme activity; retained in the endoplasmic reticulum / Golgi or rapidly degraded in the lysosomes, MIM: 256550</li><li>G->A at 88: in dbSNP:rs34712643, MIM: 256550</li><li>L->R at 91: in sialidosis; type 2, MIM: 256550</li><li>S->G at 182: in sialidosis; type 1; normally processed, MIM: 256550</li><li>V->M at 217: in sialidosis; type 1; partial transport and residual transport activity: in dbSNP rsrs28940583, MIM: 256550</li><li>G->A at 219: in sialidosis; type 1; unable to reach the lysosomes, MIM: 256550</li><li>R->P at 225: in sialidosis; type 2; impaired enzyme folding: in dbSNP rsrs28940584, MIM: 256550</li><li>G->R at 227: in sialidosis; type 1 and juvenile type 2; catalytically inactive; retained in pre-lysosomal compartments, MIM: 256550</li><li>L->H at 231: in sialidosis; type 1; unable to reach the lysosomes, MIM: 256550</li><li>W->R at 240: in sialidosis; type 2; no enzyme activity; retained in the endoplasmic reticulum / Golgi or rapidly degraded in the lysosomes, MIM: 256550</li><li>G->R at 243: in sialidosis; type 1; no enzyme activity and no transport to the lysosome, MIM: 256550</li><li>F->Y at 260: in sialidosis; infantile type 2; catalytically inactive; rapid intralysosomal degradation, MIM: 256550</li><li>L->F at 270: in sialidosis; type 2; reduction in enzyme activity; rapid intralysosomal degradation, MIM: 256550</li><li>L->P at 270: in sialidosis, MIM: 256550</li><li>R->S at 294: in sialidosis; type 1; mild mutation as residual activity is still measurable, MIM: 256550</li><li>A->V at 298: in sialidosis; type 2; less than 10% of activity; rapid intralysosomal degradation; impaired enzyme folding, MIM: 256550</li><li>P->S at 316: in sialidosis; type 1; no enzyme activity; retained in the endoplasmic reticulum / Golgi or rapidly degraded in the lysosomes, MIM: 256550</li><li>G->S at 328: in sialidosis; type 1; reduction in enzyme activity, MIM: 256550</li><li>P->Q at 335: in sialidosis; type 2; unable to reach the lysosomes, MIM: 256550</li><li>R->G at 341: in sialidosis; type 2; affects substrate binding or catalysis, MIM: 256550</li><li>L->P at 363: in sialidosis; infantile type 2; unable to reach the lysosomes, MIM: 256550</li><li>Y->C at 370: in sialidosis; infantile type 2; catalytically inactive, MIM: 256550</li><li>Y->YHY at 400: in sialidosis; type 1; mild mutation as residual activity is still measurable, MIM: 256550</li>	<li>transport</li><li>endocytosis</li>	<li>GO:0006810</li><li>GO:0006897</li>	binding	GO:0005488	<li>plasma membrane</li><li>endoplasmic reticulum</li><li>lysosomes</li>	<li>GO:0005886</li><li>GO:0005783</li><li>GO:0005764</li>		Sialidosis [MIM:256550]	<li>rs34712643</li><li>rs28940583</li><li>rs28940584</li>	3
Q99523	6272	<ul><li>RWRR->GWRA at 74-77: Abrogates propeptide cleavage</li><li>RR->GG at 76-77: Abrogates propeptide cleavage</li><li>Y->A at 792: Reduces endocytosis and Golgi to endosome sorting; when associated with A-795</li><li>L->A at 795: Reduces endocytosis and Golgi to endosome sorting; when associated with A-792</li><li>DD->NN at 823-824: Reduces interaction with GGA1</li><li>S->A at 825: Reduces interaction with GGA1</li><li>DED->NQN at 826-828: Abrogates interaction with GGA1 and impairs localization to the Golgi</li><li>LL->AA at 829-830: Abrogates interaction with GGA1 and impairs localization to the Golgi</li><li>Missing at 829-830: Abrogates interaction with GGA2. Reduces endocytosis and Golgi to endosome sorting; when associated with A-792 and A-795</li></ul>	<li>D->Y at 358: in dbSNP:rs2228605</li>	<li>endocytosis</li><li>localization</li>	<li>GO:0006897</li><li>GO:0051179</li>			endosome	GO:0005768	<li>Q9UJY4</li><li>Q9UJY5</li><li>Q06336</li><li>P38817</li>		rs2228605	3
Q99538	5641	<ul><li>N->D,Q,S at 323: Loss of autoactivation</li></ul>	<li>V->I at 18: in dbSNP:rs2236264</li>									rs2236264	3
Q99542	4327	<ul><li>E->P at 88: Reduced autolysis rate</li><li>P->V at 90: Reduced autolysis rate</li></ul>	<li>R->C at 103: in dbSNP:rs17844794</li><li>P->S at 245: in dbSNP:rs1056784</li><li>P->T at 488: in dbSNP:rs17118042</li><li>T->M at 491: in dbSNP rsrs17844806</li>									<li>rs17844806</li><li>rs17844794</li><li>rs17118042</li><li>rs1056784</li>	3
Q99558	9020	<ul><li>KK->AA at 429-430: Loss of autophosphorylation</li></ul>	<li>S->N at 140: in dbSNP:rs11574819</li><li>T->M at 255: in dbSNP:rs11574820</li><li>G->K at 514: in a lung neuroendocrine carcinoma sample; somatic mutation; requires 2 nucleotide substitutions</li><li>H->Y at 674: in dbSNP:rs11867907</li><li>T->A at 764</li><li>T->I at 852: in an ovarian mucinous carcinoma sample; somatic mutation</li><li>P->H at 928</li>	autophosphorylation	GO:0046777							<li>rs11867907</li><li>rs11574819</li><li>rs11574820</li>	3
Q99638	5883	<ul><li>Y->F at 28: Abolishes phosphorylation by ABL1</li><li>S->A at 272: Complete loss of phosphorylation and no loss of interaction with the 9-1-1 complex; when associated with A-277; A-328; A-341; A-375; A-380 and A-387</li><li>S->A at 277: Complete loss of phosphorylation and no loss of interaction with the 9-1-1 complex; when associated with A-272; A-328; A-341; A-375; A-380 and A-387</li><li>S->A at 328: Complete loss of phosphorylation and no loss of interaction with the 9-1-1 complex; when associated with A-272; A-277; A-341; A-375; A-380 and A-387</li><li>S->A at 341: Complete loss of phosphorylation and no loss of interaction with the 9-1-1 complex; when associated with A-272; A-277; A-328; A-375; A-380 and A-387</li><li>S->A at 375: Complete loss of phosphorylation and no loss of interaction with the 9-1-1 complex; when associated with A-272; A-277; A-328; A-341; A-380 and A-387</li><li>S->A at 380: Complete loss of phosphorylation and no loss of interaction with the 9-1-1 complex; when associated with A-272; A-277; A-328; A-341; A-375 and A-387</li><li>S->A at 387: Complete loss of phosphorylation and no loss of interaction with the 9-1-1 complex; when associated with A-272; A-277; A-328; A-341; A-375 and A-380</li></ul>	<li>C->F at 3: in dbSNP rsrs11575913</li><li>L->Q at 71: in dbSNP:rs2422490</li><li>S->A at 100: in dbSNP:rs2066492</li><li>H->R at 239: in dbSNP:rs17880039</li><li>M->T at 307: in dbSNP:rs17882466</li>	phosphorylation	GO:0016310					P00519		<li>rs17880039</li><li>rs17882466</li><li>rs2066492</li><li>rs2422490</li><li>rs11575913</li>	3
Q99640	9088	<ul><li>N->A at 238: Loss of kinase activity</li><li>D->A at 251: Loss of kinase activity</li><li>RNL->AAA at 486-488: Loss of CDC2-CCNB1 interaction</li></ul>	<li>E->Q at 103: in dbSNP rsrs55834293</li><li>R->C at 140: in dbSNP:rs4149796</li><li>R->H at 246: in dbSNP rsrs35192104</li><li>E->K at 351: in dbSNP rsrs56382954</li><li>P->R at 417: in dbSNP:rs4149800</li><li>V->A at 445: in dbSNP:rs10546</li>			kinase activity	GO:0016301			<li>P19026</li><li>Q9DG97</li><li>Q9DG98</li><li>Q60FY0</li><li>P06493</li><li>P48734</li><li>P23111</li><li>P13863</li><li>Q04770</li><li>P15436</li><li>P54119</li><li>Q9IBG1</li><li>P93101</li><li>Q9W739</li><li>Q08301</li><li>Q9DGA2</li><li>Q9DGA5</li><li>Q9DGA4</li><li>Q5RCH1</li><li>Q9DGA0</li><li>P43290</li><li>P14635</li><li>P52389</li><li>P24100</li><li>P51958</li><li>P37882</li><li>Q41639</li><li>Q9DGD3</li>		<li>rs35192104</li><li>rs10546</li><li>rs4149796</li><li>rs55834293</li><li>rs56382954</li><li>rs4149800</li>	3
Q99665	3595	<ul><li>Y->F at 678: No loss of STAT4 activation. No loss of SOCS3 binding</li><li>Y->F at 767: No loss of STAT4 activation. No loss of SOCS3 binding</li><li>Y->F at 800: Loss of STAT4 activation. Abolishes SOCS3 binding</li><li>L->A at 801: Abolishes in vitro STAT4 binding to a phosphorylated Y-800 peptide</li><li>P->A at 802: No effect on in vitro STAT4 binding to a phosphorylated Y-800 peptide</li><li>S->A at 803: No effect on in vitro STAT4 binding to a phosphorylated Y-800 peptide</li><li>N->A at 804: No effect on in vitro STAT4 binding to a phosphorylated Y-800 peptide</li></ul>	<li>M->V at 13: in dbSNP:rs17129772</li><li>R->Q at 149: in dbSNP:rs17129792</li><li>I->V at 185: in dbSNP:rs2307146</li><li>T->I at 201: in dbSNP:rs7526769</li><li>R->G at 313</li><li>G->R at 420: in dbSNP:rs2307148</li><li>G->S at 420: in dbSNP:rs2307148</li><li>Q->H at 426: in dbSNP:rs2307145</li><li>G->D at 465: in dbSNP:rs2307153</li><li>A->V at 625: in dbSNP:rs2307154</li><li>H->R at 720</li><li>L->R at 808: in dbSNP:rs17838066</li>			binding	GO:0005488			<li>Q68AM8</li><li>Q90X67</li><li>Q14765</li><li>O14543</li><li>Q9BEG9</li>		<li>rs17838066</li><li>rs7526769</li><li>rs2307153</li><li>rs2307154</li><li>rs17129772</li><li>rs2307145</li><li>rs2307146</li><li>rs17129792</li><li>rs2307148</li>	3
Q99683	4217	<ul><li>K->M at 709: Loss of kinase activity. Inhibits activation of JNK and apoptosis mediated by TNFRSF6 and DAXX</li><li>K->R at 709: Loss of kinase activity. Abolishes DAXX-mediated apoptosis</li><li>S->A at 966: Enhanced induction of apoptosis, increased kinase activity, and loss of YWHAG binding</li><li>S->A at 1033: Enhanced induction of apoptosis and increased kinase activity</li></ul>	<li>G->R at 1006: in dbSNP rsrs45626535</li><li>I->T at 1214: in dbSNP rsrs56379668</li><li>I->V at 1250: in dbSNP:rs35551087</li><li>T->I at 1314: in dbSNP rsrs45599539</li><li>D->N at 1315: in dbSNP rsrs41288957</li>	<li>apoptosis</li><li>induction of apoptosis</li>	<li>GO:0006915</li><li>GO:0006917</li>	<li>kinase activity</li><li>binding</li>	<li>GO:0016301</li><li>GO:0005488</li>			<li>O77736</li><li>Q5RC20</li><li>Q9TSN4</li><li>O18805</li><li>Q9BDN4</li><li>P61981</li><li>P68253</li><li>P68252</li><li>Q966Y3</li><li>P51867</li><li>Q5TJE1</li><li>Q9BDN0</li><li>P92208</li><li>P25445</li><li>Q9UER7</li><li>Q9BDP2</li><li>Q5F3W6</li>		<li>rs45626535</li><li>rs56379668</li><li>rs41288957</li><li>rs45599539</li><li>rs35551087</li>	3
Q99704	1796	<ul><li>Y->F at 362: No association with NCK. No association with GAP; when associated with F-398</li><li>Y->F at 398: No association with GAP; when associated with F-362</li></ul>								<li>P20936</li><li>Q92263</li><li>P09851</li><li>Q92211</li><li>Q5PEA9</li><li>P74873</li><li>P16333</li><li>P74851</li><li>P50904</li>			1
Q99708	5932	<ul><li>S->A at 664: Abrogates dissociation of BRCA1</li><li>S->A at 745: Abrogates dissociation of BRCA1</li></ul>	<li>K->N at 357: in dbSNP:rs34678569</li><li>H->Y at 387: in dbSNP:rs1804732</li>							<li>Q864U1</li><li>P38398</li><li>Q95153</li><li>Q6J6J0</li><li>Q6J6I8</li><li>Q6J6I9</li><li>Q9GKK8</li>		<li>rs1804732</li><li>rs34678569</li>	3
Q99717	4090	<ul><li>G->S at 419: Loss of phosphorylation</li></ul>		phosphorylation	GO:0016310								1
Q99720	10280	<ul><li>E->G at 123: No effect on ligand-binding</li><li>D->G at 126: Reduces ligand-binding. No effect on subcellular localization</li><li>E->G at 138: No effect on ligand-binding</li><li>E->G at 144: No effect on ligand-binding</li><li>E->G at 150: No effect on ligand-binding</li><li>E->G at 158: No effect on ligand-binding</li><li>E->G at 163: No effect on ligand-binding</li><li>E->G at 172: Reduces ligand-binding. No effect on subcellular localization</li><li>D->G at 188: No effect on ligand-binding</li><li>D->G at 195: No effect on ligand-binding</li><li>E->G at 213: No effect on ligand-binding</li></ul>	<li>Q->P at 2: in dbSNP:rs1800866</li><li>R->Q at 211</li>	localization	GO:0051179	binding	GO:0005488					rs1800866	3
Q99732	9516	<ul><li>Y->A at 23: Abolishes interactions with WWOX</li><li>Y->A at 61: No effect on interaction with WWOX</li></ul>	<li>Y->H at 23: in one EMPD primary tumor; somatic mutation</li><ul><li>Y->A at 23: Abolishes interactions with WWOX</li></ul><li>T->M at 49: in CMT1C, MIM: 601098</li></ul><li>I->V at 92: in dbSNP:rs4280262, MIM: 601098</li></ul><li>G->S at 112: in CMT1C, MIM: 601098</li></ul><li>T->N at 115: in CMT1C, MIM: 601098</li></ul><li>W->G at 116: in CMT1C, MIM: 601098</li></ul><li>L->V at 122: in CMT1C, MIM: 601098</li></ul>							<li>Q5F389</li><li>Q5R9W5</li><li>Q9NZC7</li><li>Q9VLU5</li>	Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098]	rs4280262	4
Q99814	2034	<ul><li>C->S at 844: Abolishes hypoxia-inducible transcriptional activation of ctaD</li></ul>	<li>G->W at 537: in ECYT4; gain of function; affects hydroxylation, MIM: 611783</li>							<li>Q8FMT1</li><li>P98059</li><li>Q79VD7</li><li>P16262</li><li>P24010</li><li>P50676</li><li>Q92I67</li><li>P63852</li><li>Q73VC3</li><li>Q08855</li><li>P63853</li><li>Q6NFM3</li><li>O54069</li><li>Q9CBQ5</li><li>Q00502</li><li>P98005</li><li>P31833</li><li>P33517</li><li>Q04440</li><li>Q06473</li>	Erythrocytosis familial type 4 (ECYT4) [MIM:611783]		3
Q99816	7251	<ul><li>V->A at 43: Reduces interaction with ubiquitin; inhibits down-regulation of EGFR</li><li>N->A at 45: Reduces interaction with ubiquitin</li><li>D->A at 46: Reduces interaction with ubiquitin</li><li>Y->A at 63: Reduces interaction with HIV-1 p6; impairs HIV-1 buddding</li><li>F->A at 88: Reduces interaction with ubiquitin; no effect on in interaction with HIV-1 p6</li><li>V->A at 89: No change in interaction with p6; no effect on HIV-1 budding</li><li>M->A at 95: Reduces interaction with VPS37B and HIV-1 p6; abolishes interaction with PDCD6IP; impairs HIV-1 buddding; inhibits down-regulation of EGFR</li><li>V->A at 141: Reduces interaction with HIV-1 p6</li><li>Missing at 158-162: Abolishes interaction with CEP55 and midbody localization; no effect on interaction with ESCRT-I proteins, PDCD6IP and viral proteins</li><li>PPN->AAA at 158-160: Abolishes interaction with CEP55</li><li>RKQF->AAAA at 368-371: Loss of interaction with VPS28. No effect on interaction with VPS37C</li></ul>	<li>M->I at 167: in dbSNP:rs34385327</li>	localization	GO:0051179			midbody	GO:0030496	<li>P69326</li><li>P08565</li><li>P69322</li><li>P69323</li><li>P69324</li><li>P69325</li><li>P68196</li><li>O46543</li><li>P68197</li><li>P13387</li><li>Q05550</li><li>P68198</li><li>P68199</li><li>P19848</li><li>P68195</li><li>P42739</li><li>Q867C2</li><li>Q02767</li><li>P62991</li><li>P62990</li><li>P61863</li><li>P61864</li><li>Q3T178</li><li>P61862</li><li>Q867C4</li><li>Q867C3</li><li>P23398</li><li>P68204</li><li>P84589</li><li>P55245</li><li>Q8WUM4</li><li>Q865C5</li><li>P42740</li><li>P68201</li><li>Q8MKD1</li><li>P14792</li><li>P63049</li><li>P0C072</li><li>P63051</li><li>P69308</li><li>P69309</li><li>P20685</li><li>P15174</li><li>P62976</li><li>P62977</li><li>P62974</li><li>P62975</li><li>P62972</li><li>P62973</li><li>P14624</li><li>P13117</li><li>P46574</li><li>P69310</li><li>Q9UK41</li><li>P69313</li><li>P69314</li><li>P69311</li><li>Q53EZ4</li><li>P69312</li><li>P08618</li><li>P69317</li><li>P69318</li><li>P0C014</li><li>P69315</li><li>P69316</li><li>P59263</li><li>P69319</li><li>P49634</li><li>P49635</li><li>P22589</li><li>Q9Y848</li><li>P62988</li><li>P62989</li><li>P23324</li><li>P69321</li><li>P00533</li><li>P69320</li><li>P59669</li>		rs34385327	3
Q99856	1820	<ul><li>Y->A at 325: Abolishes DNA-binding</li><li>K->A at 461: Abolishes nuclear targeting</li><li>G->A,P at 527: Impairs DNA-binding but not self-association</li><li>Y->A at 530: Impairs DNA-binding but not self-association</li><li>Y->F at 530: No effect on DNA-binding</li><li>G->A at 532: Impairs DNA-binding</li><li>L->A at 534: Impairs DNA-binding</li></ul>	<li>P->H at 36: in dbSNP:rs17857499</li><li>K->E at 320: in dbSNP:rs17857501</li><li>G->S at 556: in dbSNP:rs1051505</li>			DNA-binding	GO:0003677					<li>rs17857499</li><li>rs17857501</li><li>rs1051505</li>	3
Q99878	8331	<ul><li>S->A at 2: Blocks the inhibition of transcription by RPS6KA5/MSK1</li></ul>		transcription	GO:0006350					<li>P32048</li><li>Q5F3L1</li><li>Q5R4K3</li><li>O75582</li>			1
Q99942	6048	<ul><li>C->S at 42: Loss of E3 ubiquitin-protein ligase activity</li></ul>								<li>Q8RSY1</li><li>Q2QCI9</li>			1
Q99962	6456	<ul><li>A->S at 63: Reduced tubulation of liposomes, 3-fold increase in tubule diameter, no effect on liposome binding; when associated with S-66 or with S-66 and Q-70</li><li>A->D at 66: Loss of tubulation of liposomes, no effect on liposome binding</li><li>A->S at 66: Reduced tubulation of liposomes, 3-fold increase in tubule diameter, no effect on liposome binding; when associated with S-63 or with S-63 and Q-70</li><li>A->W at 66: Vesiculation of liposomes, no effect on liposome binding, indol ring located in hydrophobic core of the membrane</li><li>M->Q at 70: Reduced tubulation of liposomes, 3-fold increase in tubule diameter, no effect on liposome binding; when associated with S-63 and S-66</li><li>F->W at 202: No effect. Indol ring not associated with the membrane</li></ul>				binding	GO:0005488	membrane	GO:0016020				1
Q99972	4653	<ul><li>N->S at 57: Loss of higher molecular weight isoform</li></ul>	<li>F->S at 4</li><li>C->S at 9</li><li>G->R at 12</li><li>P->L at 16</li><li>A->S at 17</li><li>Q->H at 19: in dbSNP:rs2234925</li><li>C->R at 25: in GLC1A, MIM: 137750</li><li>Q->H at 48: in GLC1A; also in GLC3A; associated with CYP1B1 mutation H-368, MIM: 137750</li><li>V->A at 53: in GLC1A, MIM: 137750</li><li>N->D at 57, MIM: 137750</li><ul><li>N->S at 57: Loss of higher molecular weight isoform</li></ul><li>N->S at 57, MIM: 137750</li><ul><li>N->S at 57: Loss of higher molecular weight isoform</li></ul><li>N->S at 73, MIM: 137750</li></ul><li>R->K at 76: in dbSNP:rs2234926, MIM: 137750</li></ul><li>D->E at 77, MIM: 137750</li></ul><li>R->C at 82: in GLC1A, MIM: 137750</li></ul><li>R->H at 82, MIM: 137750</li></ul><li>L->P at 95, MIM: 137750</li></ul><li>R->W at 126: in GLC1A, MIM: 137750</li></ul><li>R->Q at 158: in GLC1A, MIM: 137750</li></ul><li>R->Q at 189, MIM: 137750</li></ul><li>S->F at 203, MIM: 137750</li></ul><li>D->E at 208: in GLC1A; uncertain pothogenicity; dbSNP:rs2234927, MIM: 137750</li></ul><li>L->P at 215, MIM: 137750</li></ul><li>G->V at 244: in GLC1A; uncertain pathogenicity, MIM: 137750</li></ul><li>C->Y at 245: in GLC1A; forms homomultimeric complexes that migrate at molecular weights larger than their wild-type counterparts; these mutant complexes remain sequestered intracellularly, MIM: 137750</li></ul><li>G->R at 246: in GLC1A, MIM: 137750</li></ul><li>V->A at 251: in GLC1A, MIM: 137750</li></ul><li>G->R at 252: in GLC1A, MIM: 137750</li></ul><li>E->K at 261: in GLC1A, MIM: 137750</li></ul><li>R->G at 272: in GLC1A; could be a polymorphism, MIM: 137750</li></ul><li>P->R at 274: in GLC1A, MIM: 137750</li></ul><li>W->R at 286: in GLC1A, MIM: 137750</li></ul><li>T->K at 293: in GLC1A, MIM: 137750</li></ul><li>E->K at 300: in GLC1A; uncertain pathogenicity, MIM: 137750</li></ul><li>E->K at 323: in GLC1A, MIM: 137750</li></ul><li>V->M at 329, MIM: 137750</li></ul><li>Q->E at 337: in GLC1A, MIM: 137750</li></ul><li>Q->R at 337: in GLC1A, MIM: 137750</li></ul><li>S->P at 341: in GLC1A, MIM: 137750</li></ul><li>R->K at 342: in GLC1A, MIM: 137750</li></ul><li>I->M at 345: in GLC1A, MIM: 137750</li></ul><li>E->K at 352: in GLC1A; could be a rare polymorphism, MIM: 137750</li></ul><li>T->I at 353: in GLC1A; uncertain pathogenicity, MIM: 137750</li></ul><li>I->N at 360: in GLC1A, MIM: 137750</li></ul><li>P->S at 361: in GLC1A, MIM: 137750</li></ul><li>A->T at 363: in GLC1A, MIM: 137750</li></ul><li>G->V at 364: in GLC1A, MIM: 137750</li></ul><li>G->R at 367: in GLC1A, MIM: 137750</li></ul><li>F->L at 369: in GLC1A, MIM: 137750</li></ul><li>P->L at 370: in GLC1A; severe form, MIM: 137750</li></ul><li>T->K at 377: in GLC1A, MIM: 137750</li></ul><li>T->M at 377: in GLC1A, MIM: 137750</li></ul><li>D->A at 380: in GLC1A; incomplete penetrance, MIM: 137750</li></ul><li>D->G at 380: in GLC1A, MIM: 137750</li></ul><li>D->H at 380: in GLC1A, MIM: 137750</li></ul><li>D->N at 380: in GLC1A, MIM: 137750</li></ul><li>S->N at 393: in GLC1A, MIM: 137750</li></ul><li>S->R at 393: in GLC1A, MIM: 137750</li></ul><li>K->R at 398: could be associated with GLCA1: in dbSNP rsrs56314834, MIM: 137750</li></ul><li>G->V at 399: in GLC1A; digenic; associated with CYP1B1 mutation H-368: in dbSNP rsrs28936694, MIM: 137750</li></ul><li>V->I at 402, MIM: 137750</li></ul><li>E->K at 414, MIM: 137750</li></ul><li>R->C at 422, MIM: 137750</li></ul><li>R->H at 422: in GLC1A, MIM: 137750</li></ul><li>K->E at 423: in GLC1A; heterozygote specific phenotype, MIM: 137750</li></ul><li>S->P at 425, MIM: 137750</li></ul><li>V->F at 426: in GLC1A, MIM: 137750</li></ul><li>A->T at 427: in GLC1A, MIM: 137750</li></ul><li>C->R at 433: in GLC1A; severe form, MIM: 137750</li></ul><li>G->S at 434: in GLC1A, MIM: 137750</li></ul><li>Y->H at 437: in GLC1A, MIM: 137750</li></ul><li>T->I at 438: in GLC1A, MIM: 137750</li></ul><li>A->V at 445: in GLC1A, MIM: 137750</li></ul><li>T->P at 448: in GLC1A, MIM: 137750</li></ul><li>N->D at 450: in GLC1A, MIM: 137750</li></ul><li>I->M at 465: in GLC1A, MIM: 137750</li></ul><li>R->C at 470: in GLC1A, MIM: 137750</li></ul><li>R->H at 470, MIM: 137750</li></ul><li>Y->C at 471: in GLC1A; uncertain pathogenicity, MIM: 137750</li></ul><li>Y->C at 473, MIM: 137750</li></ul><li>I->N at 477: in GLC1A, MIM: 137750</li></ul><li>I->S at 477: in GLC1A, MIM: 137750</li></ul><li>N->K at 480: in GLC1A, MIM: 137750</li></ul><li>P->L at 481: in GLC1A, MIM: 137750</li></ul><li>P->T at 481: in GLC1A, MIM: 137750</li></ul><li>V->I at 495, MIM: 137750</li></ul><li>I->F at 499: in GLC1A, MIM: 137750</li></ul><li>I->S at 499: in GLC1A, MIM: 137750</li></ul><li>K->R at 500, MIM: 137750</li></ul><li>S->P at 502: in GLC1A, MIM: 137750</li></ul>							<li>Q99972</li><li>Q16678</li>	Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	<li>rs2234927</li><li>rs56314834</li><li>rs2234925</li><li>rs2234926</li><li>rs28936694</li>	4
Q99986	7443	<ul><li>S->A at 14: Does not abolish autophosphorylation</li><li>T->A at 102: Does not abolish autophosphorylation</li><li>S->A at 125: Does not abolish autophosphorylation</li><li>S->A at 150: Does not abolish autophosphorylation</li><li>S->A at 158: Does not abolish autophosphorylation</li><li>S->A at 239: Does not abolish autophosphorylation</li><li>T->A at 305: Does not abolish autophosphorylation</li><li>T->A at 312: Does not abolish autophosphorylation</li><li>T->A at 355: Does not abolish autophosphorylation</li><li>T->A at 390: Does not abolish autophosphorylation</li></ul>		autophosphorylation	GO:0046777								1
Q9BQ15	79035	<ul><li>T->A at 117: Loss of phosphorylation by ATM</li><li>T->E at 117: Enhances ATM-dependent signaling</li></ul>		phosphorylation	GO:0016310					<li>Q13315</li><li>Q6PQD5</li><li>Q9M3G7</li>			1
Q9BQF6	57337	<ul><li>F->W at 709: Slightly increased deconjugation activity</li><li>V->E at 713: Reduces deconjugation activity</li></ul>	<li>K->Q at 79: in dbSNP:rs6809436</li><li>Q->H at 546: in dbSNP:rs2433031</li>									<li>rs6809436</li><li>rs2433031</li>	3
Q9BQG2	83594	<ul><li>Missing at 460-462: Abolishes localization to peroxisomes</li></ul>	<li>K->E at 129: in dbSNP:rs35903418</li><li>I->V at 235: in dbSNP:rs34468716</li>	localization	GO:0051179			peroxisomes	GO:0005777			<li>rs34468716</li><li>rs35903418</li>	3
Q9BR76	57175	<ul><li>S->A at 2: Stronger interaction with the Arp2/3 complex. Does not affect homo-oligomerization. Enhanced ruffling in response to phorbol 12-myristate 13-acetate (PMA) and increased speed in fibroblasts</li><li>S->D at 2: Weaker interaction with the Arp2/3 complex. Does not affect homo-oligomerization. Attenuated PMA-induced ruffling and slower speed in fibroblasts</li></ul>	<li>V->M at 411: in a colorectal cancer sample; somatic mutation</li><li>R->L at 476: in dbSNP:rs2286624</li>							<li>P61161</li><li>Q9R045</li><li>Q5M7U6</li><li>Q9UUJ1</li>		rs2286624	3
Q9BRA2	84817	<ul><li>C->S at 43: Loss of peroxidase activity</li><li>C->S at 46: Loss of peroxidase activity</li></ul>								<li>P15984</li><li>P16147</li><li>P84714</li>			1
Q9BRG2	10045	<ul><li>Y->F at 95: Loss of phosphorylation</li><li>Y->F at 231: Weak phosphorylation</li></ul>	<li>N->D at 32: in dbSNP:rs7258236</li><li>D->G at 223: in dbSNP:rs12608960</li><li>E->G at 265: in a breast cancer sample; somatic mutation</li>	phosphorylation	GO:0016310							<li>rs7258236</li><li>rs12608960</li>	3
Q9BSD7	84284	<ul><li>E->T at 114: Reduced activity, especially towards ATP, GTP and TTP</li><li>G->H at 116: Reduced activity, especially towards ATP, GTP and TTP</li></ul>	<li>G->E at 106: in dbSNP:rs12123482</li>							<li>Q6S9E0</li><li>P26651</li><li>P53781</li><li>P22893</li><li>P47973</li>		rs12123482	3
Q9BSG0	84279	<ul><li>N->Q at 121: Does not affect glycosylation state. Abolishes N-glycosylation; when associated with Q-171</li><li>N->Q at 171: Abolishes N-glycosylation. Abolishes N-glycosylation; when associated with Q-121</li></ul>											1
Q9BSM1	84759	<ul><li>Y->F at 109: Marked decrease of repressor activity. May be a kinase phosphorylation site</li><li>S->F at 195: Abolishes repressor activity. May be a PKC phosphorylation site</li></ul>		phosphorylation	GO:0016310					<li>P13678</li><li>P05130</li><li>P13677</li><li>P34722</li>			1
Q9BST9	6242	<ul><li>SPV->APA at 561-563: Impairs interaction with TAX1BP3</li></ul>								O14907			1
Q9BT40	51763	<ul><li>Y->A,F at 349: No effect on EGF-induced ruffle localization</li><li>D->A at 361: Significant decrease in EGF-induced ruffle localization</li><li>W->A at 362: Significant decrease in EGF-induced ruffle localization</li><li>Y->A,F at 376: No effect on EGF-induced ruffle localization</li></ul>	<li>S->F at 315: in a breast cancer sample; somatic mutation</li>	localization	GO:0051179			ruffle	GO:0001726	<li>P26224</li><li>Q9BEA0</li><li>P01132</li><li>P01133</li><li>Q95ND4</li><li>Q00968</li><li>P07522</li>			3
Q9BTV5	79187	<ul><li>S->A at 313: In mitosis, remained associated with microtubules; when associated with A-317; A-322 and A-324</li><li>S->D at 313: Reduced ability to associate with microtubules; when associated with D-317; E-322 and D-324</li><li>S->A at 317: In mitosis, remained associated with microtubules; when associated with A-313; A-322 and A-324</li><li>S->D at 317: Reduced ability to associate with microtubules; when associated with D-313; E-322 and D-324</li><li>T->A at 322: In mitosis, remained associated with microtubules; when associated with A-313; A-317 and A-324</li><li>T->E at 322: Reduced ability to associate with microtubules; when associated with D-313; D-317 and D-324</li><li>S->A at 324: In mitosis, remained associated with microtubules; when associated with A-313; A-317 and A-322</li><li>S->D at 324: Reduced ability to associate with microtubules; when associated with D-313; D-317 and E-322</li></ul>	<li>L->V at 232: in dbSNP:rs35139245</li>	mitosis	GO:0007067			microtubules	GO:0005874			rs35139245	3
Q9BU89	83475	<ul><li>H->A at 56: Abolishes both iron-binding and enzyme activity</li><li>E->A at 57: Abolishes enzyme activity and impairs iron-binding</li><li>H->A at 89: Abolishes both iron-binding and enzyme activity</li><li>E->A at 90: Abolishes both iron-binding and enzyme activity</li><li>H->A at 207: Abolishes both iron-binding and enzyme activity</li><li>E->A at 208: Abolishes enzyme activity and impairs iron-binding</li><li>H->A at 240: Abolishes both iron-binding and enzyme activity</li><li>E->A at 241: Abolishes both iron-binding and enzyme activity</li></ul>				iron-binding	GO:0005506						1
Q9BUB5	8569	<ul><li>K->M at 78: Loss of kinase activity; when associated with D-232</li><li>D->A at 232: Loss of kinase activity; when associated with K-78</li><li>T->A at 250: Loss of kinase activity; when associated with T-255</li><li>T->A at 255: Loss of kinase activity; when associated with T-250</li><li>T->D at 385: Constitutively active</li></ul>	<li>K->Q at 49: in dbSNP rsrs56351860</li><li>L->V at 158: in dbSNP rsrs56408722</li><li>D->N at 308: in dbSNP rsrs55791614</li><li>R->Q at 446: in dbSNP rsrs34881418</li>			kinase activity	GO:0016301					<li>rs34881418</li><li>rs56351860</li><li>rs55791614</li><li>rs56408722</li>	3
Q9BUF7	92359	<ul><li>N->D at 36: Abolishes N-glycosylation</li><li>Missing at 117-120: Loss of interaction with PARD6A and MPP5</li></ul>								<li>Q5RDQ2</li><li>Q99546</li><li>Q8N3R9</li><li>Q9NPB6</li>			1
Q9BUM1	92579	<ul><li>R->A at 79: Loss of catalytic activity</li><li>H->A at 114: Loss of catalytic activity</li><li>H->A at 167: Loss of catalytic activity</li></ul>	<li>L->P at 185: in SCN4</li><li>T->I at 216: in dbSNP:rs34406052</li><li>R->H at 253: in SCN4; the mutant protein has no phosphatase activity in vitro; electron microscopic studies show enlarged rough endoplasmic reticulum consistent with increased stress</li><li>G->R at 262: in SCN4</li>			catalytic activity	GO:0003824	rough endoplasmic reticulum	GO:0005791	<li>Q5X1E5</li><li>Q7M7K5</li><li>Q7MAZ9</li><li>Q8XBL4</li><li>Q88A53</li><li>Q5P3T0</li><li>Q7MBF4</li><li>Q8Z3M9</li><li>Q5PC82</li><li>Q5ZRX9</li><li>Q821A6</li><li>Q87SK9</li><li>Q9JZ88</li><li>Q9CP21</li><li>Q82U82</li><li>Q9I5V3</li><li>Q5F8K9</li><li>Q63YC3</li><li>Q8Y395</li><li>Q6LV05</li><li>Q8ZLY4</li><li>Q6FA38</li><li>Q9PDL7</li><li>Q62EU1</li><li>Q9JUB2</li><li>Q5WT58</li><li>Q665U9</li><li>Q57JQ5</li><li>Q9KPC6</li><li>Q8P5D4</li><li>Q8CWL6</li><li>Q8PPG9</li><li>P06961</li><li>P45269</li><li>Q9L7A3</li><li>Q88QU2</li><li>Q6D160</li><li>Q8ZI64</li><li>Q60CQ4</li><li>Q87DS9</li><li>Q65Q41</li><li>Q5E2K7</li><li>Q8CXX6</li>		rs34406052	3
Q9BUP3	10553	<ul><li>GETG->VETA at 28-31: Loss of proapoptotic and metastatis-inhibiting effect</li><li>R->H at 106: Loss of association with nucleus</li></ul>	<li>R->S at 106: in hepatocellular carcinoma</li><ul><li>R->H at 106: Loss of association with nucleus</li></ul><li>D->Y at 108: in hepatocellular carcinoma</li></ul><li>A->T at 116: in hepatocellular carcinoma</li></ul><li>G->V at 134: in hepatocellular carcinoma; reduces protein stability</li></ul><li>L->I at 144: in hepatocellular carcinoma</li></ul><li>R->S at 197: in dbSNP:rs3824886</li></ul>					nucleus	GO:0005634			rs3824886	4
Q9BV36	79083	<ul><li>E->A at 14: Abolishes RAB27A binding</li><li>R->A at 24: Decreases RAB27A binding</li><li>E->A at 32: Abolishes RAB27A binding</li></ul>	<li>R->W at 35: in GS3; abolishes RAB27A binding, MIM: 609227</li><li>R->W at 139: in dbSNP:rs2292880, MIM: 609227</li><li>L->P at 153: in dbSNP:rs3751109, MIM: 609227</li><li>D->N at 163: in dbSNP:rs3751108, MIM: 609227</li><li>G->D at 172: in dbSNP:rs3751107, MIM: 609227</li><li>T->I at 289: in dbSNP:rs11883500, MIM: 609227</li><li>H->R at 347: in dbSNP:rs2292884, MIM: 609227</li><li>V->A at 374: in dbSNP:rs3817362, MIM: 609227</li>			binding	GO:0005488			<li>Q4LE85</li><li>Q1HE58</li><li>P51159</li>	Griscelli syndrome type-3 (GS3) [MIM:609227]	<li>rs3751109</li><li>rs3817362</li><li>rs3751108</li><li>rs2292880</li><li>rs11883500</li><li>rs2292884</li><li>rs3751107</li>	3
Q9BV47	78986	<ul><li>C->A,S at 152: Loss of activity</li></ul>											1
Q9BV57	55256	<ul><li>E->A at 94: Loss of aci-reductone dioxygenase activity</li></ul>								<li>Q6AWN0</li><li>Q9BV57</li><li>Q5ZL43</li><li>Q3B8C8</li><li>Q562C9</li><li>Q3ZBL1</li><li>Q99JT9</li><li>Q6DIY2</li><li>Q6PBX5</li>			1
Q9BVC4	64223	<ul><li>S->D at 72: Impairs interaction with FRAP1</li><li>G->D at 192: Abolishes interaction with FRAP1</li><li>F->S at 320: Impairs interaction with FRAP1</li></ul>								P42345			1
Q9BVN2	23623	<ul><li>L->A at 531: Abrogates nuclear redistribution</li></ul>	<li>S->F at 362: in dbSNP:rs12061020</li><li>V->A at 493: in dbSNP:rs35826120</li>									<li>rs35826120</li><li>rs12061020</li>	3
Q9BWF3	5936	<ul><li>Y->A at 37: Abrogates regulation of alternative splice site selection; when associated with A-39; A-113 and A-115</li><li>F->A at 39: Abrogates regulation of alternative splice site selection; when associated with A-37; A-113 and A-115</li><li>Y->A at 113: Abrogates regulation of alternative splice site selection; when associated with A-37; A-39 and A-115</li><li>F->A at 115: Abrogates regulation of alternative splice site selection; when associated with A-37; A-39 and A-113</li></ul>											1
Q9BX63	83990	<ul><li>K->R at 52: Disrupts BRCA1-mediated double-strand break repair. Loss of ATPase and DNA helicase activities</li><li>S->A at 986: Does not affect the interaction with BRCA1</li><li>S->A at 988: Does not affect the interaction with BRCA1</li><li>T->A at 989: Does not affect the interaction with BRCA1</li><li>S->A at 990: Disrupts the interaction with BRCA1</li><li>P->A at 991: Abolishes phosphorylation of S-990. Impairs the interaction with BRCA1</li><li>T->A at 992: Does not affect the interaction with BRCA1</li><li>F->A at 993: Abolishes phosphorylation of S-990. Impairs the interaction with BRCA1</li><li>T->A at 997: Does not affect the interaction with BRCA1</li><li>S->A at 1001: Does not affect the interaction with BRCA1</li><li>S->A at 1003: Does not affect the interaction with BRCA1</li><li>S->A at 1004: Does not affect the interaction with BRCA1</li><li>S->A at 1007: Does not affect the interaction with BRCA1</li><li>Y->A at 1011: Does not affect the interaction with BRCA1</li><li>T->A at 1013: Does not affect the interaction with BRCA1</li></ul>	<li>P->A at 47: in BC; early onset; loss of ATPase and helicase activities; dbSNP:rs28903098, MIM: 114480</li><li>R->C at 173: in dbSNP:rs4988345, MIM: 114480</li><li>V->I at 193: in dbSNP:rs4988346, MIM: 114480</li><li>L->P at 195: in dbSNP:rs4988347, MIM: 114480</li><li>Q->H at 255: in FANCJ, MIM: 609054</li><li>R->W at 264: rare polymorphism; dbSNP:rs28997569, MIM: 609054</li><li>M->I at 299: in BC; early onset; reduces helicase efficiency on longer substrates, MIM: 114480</li><li>A->P at 349: in FANCJ, MIM: 609054</li><li>R->W at 419, MIM: 609054</li><li>F->V at 531: in dbSNP:rs4988350, MIM: 609054</li><li>Q->L at 540: in dbSNP:rs4988349, MIM: 609054</li><li>I->M at 633: in dbSNP:rs28997572, MIM: 609054</li><li>W->C at 647: in FANCJ; associated with C-707, MIM: 609054</li><li>R->C at 707: in FANCJ; associated with C-647, MIM: 609054</li><li>C->Y at 832: in dbSNP:rs4988355, MIM: 609054</li><li>P->S at 919: very frequent polymorphism; dbSNP:rs4986764, MIM: 609054</li><li>V->G at 935: in dbSNP:rs4988356, MIM: 609054</li><li>P->L at 1034: in a patient with ovarian cancer; unknown pathological significance, MIM: 609054</li><li>D->E at 1148: in dbSNP:rs28997573, MIM: 609054</li>	<li>phosphorylation</li><li>double-strand break repair</li>	<li>GO:0016310</li><li>GO:0006302</li>					<li>Q8V736</li><li>O67037</li><li>Q9UZ86</li><li>Q68772</li><li>O51934</li><li>P74759</li><li>P37987</li><li>P22657</li><li>Q04575</li><li>Q971T7</li><li>P27328</li><li>P28726</li><li>Q07630</li><li>P27327</li><li>Q9WJB2</li><li>Q3I5J6</li><li>Q66914</li><li>P16342</li><li>Q89273</li><li>P36286</li><li>Q864U1</li><li>Q66198</li><li>P22168</li><li>P19751</li><li>Q8V6W7</li><li>Q3YK19</li><li>P28897</li><li>Q96725</li><li>P19811</li><li>Q91A29</li><li>O29238</li><li>P09395</li><li>P15402</li><li>Q86117</li><li>P09498</li><li>Q86119</li><li>Q58907</li><li>Q83017</li><li>Q97ZF5</li><li>Q8R979</li><li>Q6F598</li><li>Q08582</li><li>Q91AV2</li><li>P17779</li><li>O58530</li><li>Q6J6I8</li><li>Q6J6I9</li><li>O67226</li><li>Q07518</li><li>P95479</li><li>P38398</li><li>P54634</li><li>Q6J6J0</li><li>Q8ZXT5</li><li>Q9IW06</li><li>Q04544</li><li>Q9GKK8</li><li>Q975P6</li><li>Q8V439</li><li>P17965</li><li>Q9BX63</li><li>Q91QT2</li><li>Q04561</li><li>Q95153</li><li>Q97ZZ8</li><li>P27411</li><li>P27410</li><li>P27920</li><li>P22591</li><li>Q9PYA3</li><li>P20951</li><li>P15095</li><li>Q9YN02</li><li>P27407</li><li>Q06502</li><li>P18458</li><li>Q05002</li><li>Q9YCB6</li><li>P59641</li><li>Q69014</li><li>Q8B912</li><li>P27409</li><li>Q9YC75</li>	<li>Breast cancer (BC) [MIM:114480]</li><li>Fanconi anemia complementation group J (FANCJ) [MIM:609054, 227650]</li>	<li>rs4988349</li><li>rs28997569</li><li>rs4988347</li><li>rs4986764</li><li>rs4988355</li><li>rs28997573</li><li>rs4988356</li><li>rs28997572</li><li>rs4988350</li><li>rs4988345</li><li>rs4988346</li><li>rs28903098</li>	3
Q9BXA6	83983	<ul><li>K->M at 41: Loss of kinase activity</li><li>D->N at 135: Loss of kinase activity</li></ul>				kinase activity	GO:0016301						1
Q9BXA7	83942	<ul><li>T->A at 174: Loss of kinase activity</li><li>T->E at 174: Constitutively active</li></ul>	<li>A->T at 50</li><li>H->Y at 83: in dbSNP rsrs55930004</li><li>V->L at 233: in dbSNP rsrs55940513</li><li>R->C at 237: in dbSNP rsrs55738530</li><li>G->W at 288: in dbSNP:rs34696815</li><li>G->E at 293: in dbSNP:rs11953478</li>			kinase activity	GO:0016301					<li>rs34696815</li><li>rs55940513</li><li>rs11953478</li><li>rs55930004</li><li>rs55738530</li>	3
Q9BXI6	83874	<ul><li>L->LA at 508: Loss of interaction with EBP50 and impaired subcellular localization</li></ul>	<li>R->H at 411: in dbSNP:rs4823086</li>	localization	GO:0051179					<li>Q28619</li><li>O14745</li><li>P70441</li><li>Q9JJ19</li>		rs4823086	3
Q9BXP8	60676	<ul><li>E->Q at 734: Loss of activity</li></ul>	<li>T->S at 171: in dbSNP:rs36112782</li><li>P->R at 1657: in dbSNP:rs34602579</li>									<li>rs36112782</li><li>rs34602579</li>	3
Q9BXS0	84570	<ul><li>R->A at 109: Not secreted</li><li>R->A at 112: Not secreted</li><li>LIKRRLIK->VIKRR at 181-188: Reduces binding to beta amyloid peptide</li><li>Missing at 181-188: Abolishes binding to beta amyloid peptide</li></ul>				binding	GO:0005488						1
Q9BXW4	440738	<ul><li>G->A at 126: No processing of precursor</li></ul>											1
Q9BXW9	2177	<ul><li>S->A at 222: Reduces phosphorylation by ATM. No effect on ubiquitination, foci formation or DNA repair ability, but impairs S-phase checkpoint activation</li><li>K->R at 561: Abolishes ubiquitination; impairs chromatin binding, foci formation and DNA repair. No effect on S-222 phosphorylation by ATM</li><li>S->A at 1257: No effect on phosphorylation by ATM</li><li>S->A at 1401: Reduces phosphorylation by ATM; when associated with A-1404 and A-1418</li><li>S->A at 1404: Reduces phosphorylation by ATM; when associated with A-1401 and A-1418</li><li>S->A at 1418: Reduces phosphorylation by ATM; when associated with A-1401 and A-1404</li></ul>	<li>K->R at 33: in dbSNP rsrs34691009</li><li>T->M at 61: in dbSNP rsrs35110529</li><li>Q->H at 65: in dbSNP rsrs36084488</li><li>S->G at 126: in FA, MIM: 227650</li><li>I->M at 172: in dbSNP:rs35173688, MIM: 227650</li><li>T->A at 193: in dbSNP rsrs34936017, MIM: 227650</li><li>R->W at 302: in FA, MIM: 227650</li><li>R->Q at 328: in dbSNP rsrs35625434, MIM: 227650</li><li>L->V at 446: in dbSNP:rs34557223, MIM: 227650</li><li>L->R at 456: in dbSNP:rs35782247, MIM: 227650</li><li>Q->P at 623: in dbSNP:rs36070315, MIM: 227650</li><li>P->L at 714: common polymorphism; dbSNP:rs3864017, MIM: 227650</li><li>K->R at 865: in dbSNP:rs35546777, MIM: 227650</li><li>G->V at 901: in dbSNP:rs35495399, MIM: 227650</li><li>R->H at 1236: in FA; no effect on ubiquitination, MIM: 227650</li>	<li>phosphorylation</li><li>DNA repair</li><li>S-phase</li>	<li>GO:0016310</li><li>GO:0006281</li><li>GO:0051320</li>	chromatin binding	GO:0003682			<li>Q13315</li><li>Q6PQD5</li><li>Q9M3G7</li>	Fanconi anemia (FA) [MIM:227650]	<li>rs35546777</li><li>rs35110529</li><li>rs34691009</li><li>rs36070315</li><li>rs35625434</li><li>rs36084488</li><li>rs34936017</li><li>rs3864017</li><li>rs35495399</li><li>rs35782247</li><li>rs35173688</li><li>rs34557223</li>	3
Q9BY12	49855	<ul><li>RNL->AAA at 25-27: No effect on CCNA2/CDK2 complex-binding</li><li>RSL->AAA at 198-200: Loss of CCNA2/CDK2 complex-binding</li><li>RAL->AAA at 677-679: No effect on CCNA2/CDK2 complex-binding</li></ul>	<li>P->T at 1088: in dbSNP:rs1607017</li><li>A->T at 1139: in dbSNP:rs3743176</li>			binding	GO:0005488			<li>P30274</li><li>P48963</li><li>Q5E9Y0</li><li>P43450</li><li>P24941</li><li>P20248</li><li>P43449</li><li>O55076</li><li>P37881</li>		<li>rs3743176</li><li>rs1607017</li>	3
Q9BY41	55869	<ul><li>HH->AA at 142-143: Strongly reduces histone deacetylase activity</li></ul>								O22446			1
Q9BY49	55825	<ul><li>Missing at 303: Abolishes localization to peroxisomes</li></ul>	<li>E->K at 149: in dbSNP:rs1429148</li><li>F->L at 297: in dbSNP:rs9288513</li>	localization	GO:0051179			peroxisomes	GO:0005777			<li>rs9288513</li><li>rs1429148</li>	3
Q9BY66	8284	<ul><li>H->A at 534: Abolishes enzymatic activity; when associated with A-536</li><li>E->A at 536: Abolishes enzymatic activity; when associated with A-534</li></ul>	<li>V->L at 1186: in dbSNP:rs1050807</li>									rs1050807	3
Q9BYC5	2530	<ul><li>R->A,K at 365: Complete loss of activity</li><li>R->A,K at 366: Decreases activity to 3%</li></ul>	<li>K->Q at 101: in dbSNP:rs2229678</li><li>T->K at 267: in dbSNP:rs35949016</li>									<li>rs2229678</li><li>rs35949016</li>	3
Q9BYE7	84108	<ul><li>S->A at 30: Abolishes phosphorylation</li><li>S->A at 57: Does not abolish phosphorylation</li><li>S->A at 59: Does not abolish phosphorylation</li><li>S->A at 69: Does not abolish phosphorylation</li></ul>	<li>L->LPP at 23</li>	phosphorylation	GO:0016310								3
Q9BYF1	59272	<ul><li>QAK->KAE at 24-26: Slightly inhibits interaction with SARS-CoV spike glycoprotein</li><li>K->D at 31: Abolishes interaction with SARS-CoV spike glycoprotein</li><li>E->A at 37: No effect on interaction with SARS-CoV spike glycoprotein</li><li>D->A at 38: No effect on interaction with SARS-CoV spike glycoprotein</li><li>Y->A at 41: Strongly inhibits interaction with SARS-CoV spike glycoprotein</li><li>K->D at 68: Slightly inhibits interaction with SARS-CoV spike glycoprotein</li><li>MYP->NFS at 82-84: Inhibits interaction with SARS-CoV spike glycoprotein</li><li>E->P at 110: No effect on interaction with SARS-CoV spike glycoprotein</li><li>PD->SM at 135-136: No effect on interaction with SARS-CoV spike glycoprotein</li><li>E->R at 160: No effect on interaction with SARS-CoV spike glycoprotein</li><li>R->D at 192: No effect on interaction with SARS-CoV spike glycoprotein</li><li>R->D at 219: No effect on interaction with SARS-CoV spike glycoprotein</li><li>H->Q at 239: No effect on interaction with SARS-CoV spike glycoprotein</li><li>K->D at 309: No effect on interaction with SARS-CoV spike glycoprotein</li><li>E->A at 312: No effect on interaction with SARS-CoV spike glycoprotein</li><li>T->A at 324: No effect on interaction with SARS-CoV spike glycoprotein</li><li>NVQ->DDR at 338-340: No effect on interaction with SARS-CoV spike glycoprotein</li><li>D->A at 350: No effect on interaction with SARS-CoV spike glycoprotein</li><li>K->H,A,D at 353: Abolishes interaction with SARS-CoV spike glycoprotein</li><li>D->A at 355: Strongly inhibits interaction with SARS-CoV spike glycoprotein</li><li>R->A at 357: Strongly inhibits interaction with SARS-CoV spike glycoprotein</li><li>L->K,A at 359: No effect on interaction with SARS-CoV spike glycoprotein</li><li>M->A at 383: Slightly inhibits interaction with SARS-CoV spike glycoprotein</li><li>P->A at 389: Slightly inhibits interaction with SARS-CoV spike glycoprotein</li><li>R->A at 393: Slightly inhibits interaction with SARS-CoV spike glycoprotein</li><li>SPD->PSN at 425-427: Slightly inhibits interaction with SARS-CoV spike glycoprotein</li><li>KGE->QDK at 465-467: No effect on interaction with SARS-CoV spike glycoprotein</li><li>R->S at 559: Slightly inhibits interaction with SARS-CoV spike glycoprotein</li><li>F->T at 603: No effect on interaction with SARS-CoV spike glycoprotein</li></ul>	<li>K->R at 26: in dbSNP:rs4646116</li><li>N->S at 638</li>							<li>P13642</li><li>P08163</li><li>P26636</li><li>P49591</li><li>Q9GMB8</li>		rs4646116	3
Q9BYG3	84365	<ul><li>S->A at 230: Loss of phosphorylation site</li><li>T->A at 234: Loss of phosphorylation site. Abrogates interaction with MKI67</li><li>P->A at 235: Reduces phosphorylation at T-234</li><li>T->A at 238: Loss of phosphorylation site. Abrogates interaction with MKI67</li><li>P->A at 239: Reduces phosphorylation at T-234 and T-238</li></ul>	<li>P->Q at 144: in dbSNP:rs17852212</li>	phosphorylation	GO:0016310					P46013		rs17852212	3
Q9BYN0	140809	<ul><li>C->S at 99: No effect on association with PRDX1, PRDX2, PRDX3 or PRDX4</li></ul>								<li>P35705</li><li>Q5E947</li><li>P52552</li><li>Q8K3U7</li><li>Q6DV14</li><li>Q5RC63</li><li>Q6B4U9</li><li>Q13162</li><li>Q9JKY1</li><li>Q9BGI2</li><li>Q9BGI3</li><li>P30048</li><li>Q2PFZ3</li><li>P32119</li><li>Q5REY3</li><li>Q06830</li>			1
Q9BYW2	29072	<ul><li>R->H at 1625: Loss of methyltransferase activity</li><li>R->A at 2475: Does not affect interaction with hyperphosphorylated POLR2A</li><li>K->A at 2476: Does not affect interaction with hyperphosphorylated POLR2A</li><li>Q->A at 2480: Does not affect interaction with hyperphosphorylated POLR2A</li><li>F->A at 2481: Does not affect interaction with hyperphosphorylated POLR2A</li><li>V->A at 2483: Impairs interaction with hyperphosphorylated POLR2A</li><li>F->L at 2505: Impairs interaction with hyperphosphorylated POLR2A</li><li>K->A at 2506: Impairs interaction with hyperphosphorylated POLR2A</li><li>R->A at 2510: Impairs interaction with hyperphosphorylated POLR2A</li><li>H->A at 2514: Impairs interaction with hyperphosphorylated POLR2A</li><li>G->A,T at 2515: Does not affect interaction with hyperphosphorylated POLR2A</li><li>E->A at 2528: Increases interaction with hyperphosphorylated POLR2A; when associated with A-2531</li><li>E->A at 2531: Increases interaction with hyperphosphorylated POLR2A; when associated with A-2528</li></ul>	<li>V->L at 768: in dbSNP:rs9311404</li><li>A->D at 1868: in dbSNP:rs11721074</li><li>P->L at 1962: in dbSNP:rs4082155</li>							<li>Q00020</li><li>P03588</li><li>P03589</li><li>Q83270</li><li>P28931</li><li>P06011</li><li>P24928</li><li>P17769</li><li>P20122</li><li>Q66121</li><li>O40976</li><li>P28726</li><li>P11414</li><li>P27752</li><li>Q83264</li>		<li>rs4082155</li><li>rs11721074</li><li>rs9311404</li>	3
Q9BYX4	64135	<ul><li>D->A at 251: No cleavage and no acceleration of DNA degradation</li><li>E->A at 444: No acceleration of DNA degradation, no binding to ATP, and no helicase activity</li></ul>	<li>H->R at 460: in dbSNP:rs10930046</li><li>H->R at 843: in dbSNP:rs3747517</li><li>A->T at 946: associated with susceptibility to insulin-dependent diabetes mellitus; dbSNP:rs1990760</li>	DNA degradation	GO:0006308	binding	GO:0005488			<li>Q8V736</li><li>O67037</li><li>P0C236</li><li>P74759</li><li>P42633</li><li>Q04575</li><li>P27328</li><li>P68243</li><li>P68992</li><li>Q07630</li><li>P27327</li><li>P81423</li><li>Q66914</li><li>Q89273</li><li>P36286</li><li>P22168</li><li>P68245</li><li>Q96725</li><li>P19811</li><li>O29238</li><li>P69046</li><li>P01316</li><li>P01314</li><li>P01319</li><li>P12703</li><li>P12704</li><li>Q86117</li><li>P09498</li><li>P12708</li><li>Q86119</li><li>Q58907</li><li>Q83017</li><li>Q97ZF5</li><li>Q08582</li><li>P69048</li><li>P01330</li><li>P17779</li><li>P69047</li><li>O58530</li><li>O67226</li><li>P01324</li><li>P95479</li><li>P01320</li><li>P54634</li><li>Q8ZXT5</li><li>Q9IW06</li><li>P01328</li><li>P17965</li><li>Q9TQY7</li><li>P27411</li><li>P27920</li><li>P27410</li><li>P01340</li><li>P22591</li><li>P20951</li><li>P68990</li><li>P68991</li><li>Q9YN02</li><li>P27407</li><li>P01336</li><li>P68988</li><li>Q9YCB6</li><li>P68987</li><li>P01334</li><li>P13190</li><li>P01331</li><li>P09477</li><li>P09476</li><li>P68989</li><li>P27409</li><li>Q9UZ86</li><li>Q68772</li><li>O51934</li><li>P07453</li><li>P37987</li><li>P22657</li><li>Q971T7</li><li>P28726</li><li>Q9WJB2</li><li>Q3I5J6</li><li>P16342</li><li>Q66198</li><li>P19751</li><li>Q8V6W7</li><li>P28897</li><li>Q91A29</li><li>P09395</li><li>P29335</li><li>P18109</li><li>P15402</li><li>P67974</li><li>P67973</li><li>Q8R979</li><li>Q6F598</li><li>P67971</li><li>Q91AV2</li><li>Q07518</li><li>Q04544</li><li>Q975P6</li><li>Q8V439</li><li>Q91QT2</li><li>Q04561</li><li>Q97ZZ8</li><li>Q9PYA3</li><li>P67969</li><li>P15095</li><li>P67968</li><li>Q06502</li><li>P18458</li><li>P81881</li><li>Q05002</li><li>P59641</li><li>Q69014</li><li>Q8B912</li><li>Q9YC75</li>		<li>rs3747517</li><li>rs10930046</li><li>rs1990760</li>	3
Q9BZB8	64506	<ul><li>T->A at 172: Does not affect its localization</li><li>T->D at 172: Does not affect its localization</li><li>F->A at 314: Abolishes stress granule assembly and correct localization in dcp1 bodies</li><li>H->A at 545: Abolishes stress granule assembly and correct localization in dcp1 bodies</li></ul>		localization	GO:0051179					<li>P47820</li><li>P09470</li><li>P22967</li><li>Q50JE5</li><li>Q8CFN1</li>			1
Q9BZI7	65109	<ul><li>K->E at 52: Abolishes interaction with RENT2</li><li>VVIRRL->AVARRA at 53-58: Abolishes interaction with RENT2</li><li>R->E at 56: Does not abolish interaction with RENT2</li><li>YVF->DVD at 117-119: Abolishes interaction with RENT2</li><li>R->A at 430: Reduces NMD</li><li>R->A at 432: Reduces NMD</li><li>Missing at 434-447: Abolishes NMD</li><li>K->A at 434: Reduces NMD</li><li>D->A at 435: Reduces NMD</li><li>R->A at 436: Reduces NMD</li><li>L->F at 441: Reduces NMD</li></ul>	<li>Y->D at 160: in MRXS14, MIM: 300676</li>							Q9HAU5	X-linked syndromic mental retardation type 14 (MRXS14) [MIM:300676]		3
Q9BZM5	80328	<ul><li>SAG->TPV at 208-210: Secreted</li><li>SSG->TPV at 216-218: Not secreted</li></ul>											1
Q9BZQ4	23057	<ul><li>H->A at 24: Reduces activity by 95%</li><li>W->G at 92: Reduces activity by 95%</li></ul>											1
Q9BZX4	152015	<ul><li>L->A at 18: Abolishes interaction with AKAP3</li></ul>								<li>O75969</li><li>O77797</li>			1
Q9C000	22861	<ul><li>GK->EA at 339-340: Abolishes binding to ATP</li><li>K->L,S at 340: No effect</li></ul>	<li>L->H at 155: associated with susceptibility to vitiligo and vitiligo-associated autoimmune diseases; dbSNP:rs12150220</li><li>T->S at 246: in dbSNP:rs11651595</li><li>R->Q at 404: in dbSNP:rs3744718</li><li>T->M at 878: in dbSNP:rs11657747</li><li>V->M at 1059: in dbSNP:rs2301582</li><li>H->Y at 1069: in dbSNP:rs9907167</li><li>M->V at 1119: in dbSNP:rs35596958</li><li>M->V at 1184: in dbSNP:rs11651270</li><li>V->L at 1241: in dbSNP:rs11653832</li><li>R->C at 1366: in dbSNP:rs2137722</li>			binding	GO:0005488					<li>rs11653832</li><li>rs11651595</li><li>rs2137722</li><li>rs3744718</li><li>rs9907167</li><li>rs11657747</li><li>rs11651270</li><li>rs35596958</li><li>rs12150220</li><li>rs2301582</li>	3
Q9C035	85363	<ul><li>R->A,G,H,P,Q,S at 332: Increases strongly cell restriction against HIV-1 and SIVmac infection</li><li>R->D,E,L at 332: Increases strongly cell restriction against HIV-1 infection</li><li>R->K at 332: No effect on HIV-1 and SIVmac infection</li></ul>	<li>H->Y at 43: in dbSNP:rs3740996</li><li>V->F at 112: in dbSNP:rs11601507</li><li>R->Q at 136: in dbSNP rsrs10838525</li><li>G->D at 249: in dbSNP:rs11038628</li><li>H->Y at 419: in dbSNP:rs28381981</li><li>P->L at 479: in dbSNP:rs7104422</li>									<li>rs28381981</li><li>rs3740996</li><li>rs10838525</li><li>rs7104422</li><li>rs11038628</li><li>rs11601507</li>	3
Q9C0D3	79699	<ul><li>L->S at 18: Abolishes interaction with TCEB1</li></ul>								<li>Q15369</li><li>Q2KII4</li>			1
Q9C0H2	80727	<ul><li>T->A at 128: Does not affect N-glycosylation state</li><li>T->A at 146: Does not affect N-glycosylation state</li><li>T->A at 353: Abolishes N-glycosylation</li><li>R->Q at 367: Induces a stronger permeability to cations</li><li>H->D at 370: Shows a different ion selectivity</li></ul>											1
Q9GZM8	81565	<ul><li>S->A at 198: Abrogates mitotic phosphorylation; when associated with V-219; A-231; A-242 and V-245. Abrogates phosphorylation by CDK5; when associated with A-219 and A-231</li><li>S->E at 198: Enhances interaction with PAFAH1B1 and impairs centrosomal localization; when associated with E-219; E-231; E-242 and E-245</li><li>T->A at 219: Abrogates phosphorylation by CDK5; when associated with A-198 and A-231</li><li>T->E at 219: Enhances interaction with PAFAH1B1 and impairs centrosomal localization; when associated with E-198; E-231; E-242 and E-245</li><li>T->V at 219: Abrogates mitotic phosphorylation; when associated with A-198; A-231; A-242 and V-245</li><li>S->A at 231: Abrogates mitotic phosphorylation; when associated with A-198; V-219; A-242 and V-245. Abrogates phosphorylation by CDK5; when associated with A-198 and A-219</li><li>S->E at 231: Enhances interaction with PAFAH1B1 and impairs centrosomal localization; when associated with E-198; E-219; E-242 and E-245</li><li>S->A at 242: Abrogates mitotic phosphorylation; when associated with A-198; V-219; A-231 and V-245</li><li>S->E at 242: Enhances interaction with PAFAH1B1 and impairs centrosomal localization; when associated with E-198; E-219; E-231 and E-245</li><li>T->E at 245: Enhances interaction with PAFAH1B1 and impairs centrosomal localization; when associated with E-198; E-219; E-231 and E-242</li><li>T->V at 245: Abrogates mitotic phosphorylation; when associated with A-198; V-219; A-231 and A-242</li><li>C->A at 273: Abolishes oligopeptidase activity</li></ul>		<li>phosphorylation</li><li>localization</li>	<li>GO:0016310</li><li>GO:0051179</li>					<li>Q02399</li><li>Q5REG7</li><li>Q8HXX0</li><li>Q9GL51</li><li>Q00535</li><li>P43033</li><li>P43034</li><li>Q9PTR5</li><li>Q5IS43</li>			1
Q9GZN2	60436	<ul><li>T->V at 182: Decrease of phosphorylation. Strong decrease of phosphorylation; when associated with V-186</li><li>T->V at 186: Decrease of phosphorylation. Strong decrease of phosphorylation; when associated with V-182</li></ul>		phosphorylation	GO:0016310								1
Q9GZP0	80310	<ul><li>R->A at 247: Abolishes cleavage into active form; when associated with A-249</li><li>R->A at 249: Abolishes cleavage into active form; when associated with A-247</li></ul>	<li>I->V at 190: in dbSNP:rs35045740</li><li>D->Y at 202: in a colorectal cancer sample; somatic mutation</li>									rs35045740	3
Q9GZQ8	81631	<ul><li>G->A at 120: No processing of precursor</li><li>K->A at 122: No effect on processing of precursor</li></ul>											1
Q9GZR1	26054	<ul><li>C->S at 1030: Abolishes enzymatic activity</li></ul>	<li>T->M at 121: in dbSNP:rs17414086</li><li>E->K at 637: in dbSNP:rs1061347</li><li>R->P at 717: in dbSNP:rs12195603</li><li>A->V at 820: in dbSNP:rs34045941</li><li>Y->C at 1106: in dbSNP:rs9250</li>									<li>rs12195603</li><li>rs17414086</li><li>rs9250</li><li>rs34045941</li><li>rs1061347</li>	3
Q9GZT3	81892	<ul><li>R->A at 7: Impairs corepressor activity; when associated with 13-A-A-14</li><li>RR->AA at 13-14: Impairs corepressor activity; when associated with A-7</li><li>RR->AA at 24-25: Impairs SRA-mediated repression; when associated with A-62</li><li>L->A at 62: Impairs SRA-mediated repression; when associated with 24-A-A-25</li></ul>								P68191			1
Q9GZT9	54583	<ul><li>Y->F at 303: No effect</li><li>R->A at 383: Reduces enzyme activity by 95%</li></ul>	<li>P->R at 317: in ECYT3; marked decrease in enzyme activity, MIM: 609820</li><li>R->H at 371: in ECYT3; decreased interaction with HIF1A and HIF2A and decreased enzyme activity, MIM: 609820</li>							<li>Q98SW2</li><li>Q0PGG7</li><li>Q309Z6</li><li>Q9YIB9</li><li>Q99814</li><li>Q16665</li><li>Q9XTA5</li>	Erythrocytosis familial type 3 (ECYT3) [MIM:609820]		3
Q9GZY0	56001	<ul><li>E->A at 598: Has no effect on FG-nucleoporin binding</li><li>W->A at 599: Suppresses FG-nucleoporin binding</li><li>N->A at 600: Has no effect on FG-nucleoporin binding</li></ul>				binding	GO:0005488						1
Q9GZY6	7462	<ul><li>Y->F at 58: No change in phosphorylation upon BCR activation</li><li>Y->F at 84: No change in phosphorylation upon BCR activation</li><li>Y->F at 95: Slightly reduces phosphorylation upon BCR activation</li><li>Y->F at 110: No change in phosphorylation upon BCR activation</li><li>Y->F at 118: No change in phosphorylation upon BCR activation</li><li>Y->F at 136: Slightly reduces phosphorylation upon BCR activation</li><li>Y->F at 193: Reduces phosphorylation upon BCR activation</li><li>Y->F at 233: Strongly reduces phosphorylation upon BCR activation</li></ul>		phosphorylation	GO:0016310					P11274			1
Q9H093	81788	<ul><li>K->R at 81: Loss of autophosphorylation, kinase activity and of anti-apoptotic activity</li><li>T->A at 208: Prevents phosphorylation and activation by STK11 complex</li></ul>	<li>T->S at 309: in dbSNP rsrs55745939</li><li>R->L at 341: in dbSNP rsrs35208615</li><li>K->R at 503: in an ovarian Endometrioid carcinoma sample; somatic mutation</li><li>A->V at 516: in dbSNP rsrs35070935</li><li>G->E at 541: in a breast pleomorphic lobular carcinoma sample; somatic mutation</li>	<li>phosphorylation</li><li>autophosphorylation</li>	<li>GO:0016310</li><li>GO:0046777</li>	kinase activity	GO:0016301			<li>Q15831</li><li>Q0GGW5</li>		<li>rs55745939</li><li>rs35070935</li><li>rs35208615</li>	3
Q9H0C8	80895	<ul><li>D->A at 152: Losing of more than 90% of activity</li><li>H->D at 154: Losing of more than 90% of activity</li><li>H->L at 154: Losing of more than 90% of activity</li></ul>											1
Q9H0H5	29127	<ul><li>R->A at 385: Abolishes GAP activity towards RAC1 and CDC42 and induces multiple blebs during cytokinesis</li></ul>		cytokinesis	GO:0000910					<li>P20936</li><li>O14426</li><li>P60953</li><li>P60952</li><li>Q9SSX0</li><li>Q92211</li><li>P80236</li><li>P63000</li><li>Q90694</li><li>O94103</li><li>Q92263</li><li>Q17031</li><li>P09851</li><li>Q9HF56</li><li>Q5PEA9</li><li>O04369</li><li>P74873</li><li>Q38912</li><li>P13362</li><li>P62999</li><li>P74851</li><li>P19073</li><li>P62998</li><li>P50904</li>			1
Q9H0K1	23235	<ul><li>T->A at 175: Prevents phosphorylation and activation by STK11 complex</li><li>T->E at 175: Constitutively active</li></ul>	<li>T->I at 458: in dbSNP rsrs35789057</li><li>R->Q at 809: in dbSNP rsrs34223841</li><li>P->L at 825: in dbSNP rsrs55889697</li><li>P->L at 828: in dbSNP:rs45520245</li><li>P->S at 829: in dbSNP:rs45586732</li>	phosphorylation	GO:0016310					<li>Q15831</li><li>Q0GGW5</li>		<li>rs34223841</li><li>rs55889697</li><li>rs45586732</li><li>rs35789057</li><li>rs45520245</li>	3
Q9H0M0	11059	<ul><li>E->A at 614: Reduces ubiquitin transfer</li><li>H->A at 621: Strongly reduces ubiquitin transfer</li><li>D->A at 675: Reduces ubiquitin transfer</li><li>E->A at 798: Reduces ubiquitin transfer. Strongly reduces ubiquitin transfer; when associated with A-845</li><li>M->P at 804: Strongly reduces ubiquitin transfer; when associated with P-806</li><li>E->P at 806: Strongly reduces ubiquitin transfer; when associated with P-804</li><li>R->A at 845: No effect</li><li>Q->A at 848: Abolishes ubiquitin transfer; when associated with A-855</li><li>R->A at 855: Abolishes ubiquitin transfer; when associated with A-848</li></ul>	<li>G->V at 852: in dbSNP:rs1059901</li>							<li>P69326</li><li>P08565</li><li>P69322</li><li>P69323</li><li>P69324</li><li>P69325</li><li>P68196</li><li>O46543</li><li>P68197</li><li>Q05550</li><li>P68198</li><li>P68199</li><li>P19848</li><li>P68195</li><li>P42739</li><li>Q867C2</li><li>P62991</li><li>P62990</li><li>P61863</li><li>P61864</li><li>P61862</li><li>Q867C4</li><li>Q867C3</li><li>P23398</li><li>P68204</li><li>P84589</li><li>Q865C5</li><li>P42740</li><li>P68201</li><li>Q8MKD1</li><li>P14792</li><li>P63049</li><li>P0C072</li><li>P63051</li><li>P69308</li><li>P69309</li><li>P20685</li><li>P15174</li><li>P62976</li><li>P62977</li><li>P62974</li><li>P62975</li><li>P62972</li><li>P13117</li><li>P14624</li><li>P62973</li><li>P46574</li><li>P69310</li><li>P69313</li><li>P69314</li><li>P69311</li><li>P69312</li><li>P08618</li><li>P69317</li><li>P69318</li><li>P0C014</li><li>P69315</li><li>P69316</li><li>P59263</li><li>P69319</li><li>P49634</li><li>P49635</li><li>P22589</li><li>Q9Y848</li><li>P62988</li><li>P62989</li><li>P23324</li><li>P69321</li><li>P69320</li><li>P59669</li>		rs1059901	3
Q9H0P0	51251	<ul><li>D->N at 88: Loss of nucleotidase and phosphotransferase activity</li><li>F->A at 89: Increases Km for CMP 45-fold. Reduces nucleotidase and phosphotransferase activity by 99%</li><li>D->N at 90: Loss of nucleotidase and phosphotransferase activity</li><li>E->D at 135: No effect on nucleotidase activity. Reduces phosphotransferase activity by 99%</li><li>F->A at 233: Reduces nucleotidase and phosphotransferase activity by 97%</li></ul>	<li>D->V at 137: in P5N deficiency; may alter protein structure, MIM: 266120</li><li>L->P at 181: in P5N deficiency; may alter protein structure and markedly decreases activity, MIM: 266120</li><li>N->S at 229: in P5N deficiency; markedly decreases activity, MIM: 266120</li><li>G->R at 280: in P5N deficiency; markedly decreases activity, MIM: 266120</li>			nucleotidase activity	GO:0008252			<li>P21941</li><li>P05099</li>	P5N deficiency [MIM:266120]		3
Q9H0U4	81876	<ul><li>Q->L at 67: No effect on GDI1 binding. Reduces, in vitro, but not, in vivo prenylation. No effect on interaction with REP1/CHM Much lower GDP/GTP ratio</li><li>I->N at 73: Abolishes interaction with REP1/CHM. No prenylation. Much lower GDP/GTP ratio</li><li>Y->D at 78: Abolishes interaction with REP1/CHM and GDI1. No prenylation. Much lower GDP/GTP ratio. No membrane association</li><li>A->D at 81: Abolishes interaction with REP1/CHM. No prenylation. Lowers GDP/GTP ratio by half</li><li>L->R at 103: No effect on prenylation</li><li>A->D at 110: No effect on prenylation</li><li>K->E at 137: No effect on prenylation</li><li>G->N at 144: No effect on prenylation</li></ul>				binding	GO:0005488	membrane	GO:0016020	<li>P24386</li><li>Q9FE22</li><li>P03871</li><li>P60028</li><li>Q7YQM0</li><li>O97555</li><li>Q9SFC6</li><li>P21856</li><li>Q99109</li><li>P52195</li><li>P39958</li><li>P13741</li><li>P13775</li><li>P31150</li><li>P13778</li><li>P13777</li><li>Q8HXX7</li><li>P13776</li>			1
Q9H0V9	81562	<ul><li>RKR->SSS at 344-346: Loss of ER retention</li></ul>						ER	GO:0005783				1
Q9H1B7	64207	<ul><li>C->A at 715: Loss of transcription activity</li></ul>		transcription	GO:0006350								1
Q9H1D0	55503	<ul><li>D->A at 542: Abolishes channel activity</li><li>T->A at 702: Abolishes phosphorylation by PKC/PRKCA, achieves faster channel inactivation and no effect on binding to calmodulin</li></ul>	<li>C->R at 157: in dbSNP:rs4987657</li><li>R->Q at 359: in dbSNP:rs4987665</li><li>M->V at 378: in dbSNP:rs4987667</li><li>M->T at 681: in dbSNP:rs4987682</li>	phosphorylation	GO:0016310	binding	GO:0005488			<li>Q40302</li><li>Q8STF0</li><li>P04353</li><li>P41040</li><li>P04352</li><li>P04409</li><li>Q9GRJ1</li><li>P61860</li><li>P02594</li><li>P02595</li><li>P61861</li><li>P48976</li><li>O82018</li><li>P62144</li><li>P62184</li><li>P93171</li><li>P62145</li><li>P07463</li><li>Q5RAD2</li><li>P24044</li><li>P11121</li><li>P62149</li><li>O02367</li><li>P06787</li><li>Q6IT78</li><li>P05935</li><li>P05933</li><li>O16305</li><li>Q6PI52</li><li>P05934</li><li>Q6YNX6</li><li>Q7Y052</li><li>Q95NR9</li><li>P62157</li><li>P11118</li><li>P62156</li><li>P62155</li><li>P21251</li><li>Q5EHV7</li><li>P62154</li><li>P62152</li><li>P62151</li><li>P17252</li><li>Q7T3T2</li><li>P69097</li><li>P69098</li><li>P60206</li><li>P60205</li><li>Q9U6D3</li><li>Q9HFY6</li><li>P60204</li><li>P62158</li><li>O96102</li><li>P18061</li><li>P62201</li><li>P11120</li><li>P34722</li><li>P93087</li><li>Q8X187</li><li>O60041</li><li>P62160</li><li>P62204</li><li>Q05055</li><li>P62203</li><li>P61859</li><li>P62202</li><li>P17928</li><li>P15094</li><li>Q95NI4</li><li>P02598</li><li>P62162</li><li>Q9UWF0</li><li>P02599</li><li>P62161</li><li>Q71UH6</li><li>Q71UH5</li><li>O97341</li><li>P04464</li><li>P27165</li><li>P13678</li><li>P10102</li><li>P13677</li><li>P05130</li><li>Q39752</li><li>P27166</li><li>P84339</li><li>P23286</li><li>P27161</li><li>O94739</li><li>P41041</li><li>Q6R520</li>		<li>rs4987667</li><li>rs4987665</li><li>rs4987682</li><li>rs4987657</li>	3
Q9H1K0	64145	<ul><li>NPF->APA at 626-628: Reduces the interaction with EHD1. Abolishes the interaction with EHD1; when associated with 662-APA-664</li><li>NPF->APA at 662-664: Reduces the interaction with EHD1. Abolishes the interaction with EHD1; when associated with 626-APA-628</li></ul>	<li>L->P at 591: in dbSNP:rs9868848</li><li>T->A at 641: in dbSNP:rs9851219</li><li>M->I at 722: in dbSNP:rs9830744</li>							<li>P16406</li><li>Q07075</li><li>Q95334</li><li>P50123</li><li>Q9H4M9</li>		<li>rs9830744</li><li>rs9868848</li><li>rs9851219</li>	3
Q9H1R2	128853	<ul><li>C->S at 85: Loss of phosphatase activity</li></ul>								<li>Q7M7K5</li><li>Q5X1E5</li><li>Q7MAZ9</li><li>Q8XBL4</li><li>Q7MBF4</li><li>Q5P3T0</li><li>Q88A53</li><li>Q5PC82</li><li>Q8Z3M9</li><li>Q821A6</li><li>Q5ZRX9</li><li>Q87SK9</li><li>Q9JZ88</li><li>Q9CP21</li><li>Q82U82</li><li>Q9I5V3</li><li>Q5F8K9</li><li>Q63YC3</li><li>Q8Y395</li><li>Q6LV05</li><li>Q8ZLY4</li><li>Q6FA38</li><li>Q9PDL7</li><li>Q62EU1</li><li>Q9JUB2</li><li>Q5WT58</li><li>Q665U9</li><li>Q57JQ5</li><li>Q9KPC6</li><li>Q8CWL6</li><li>Q8P5D4</li><li>Q8PPG9</li><li>P06961</li><li>P45269</li><li>Q88QU2</li><li>Q9L7A3</li><li>Q6D160</li><li>Q87DS9</li><li>Q60CQ4</li><li>Q8ZI64</li><li>Q65Q41</li><li>Q5E2K7</li><li>Q8CXX6</li>			1
Q9H1Y0	9474	<ul><li>K->R at 130: Loss of conjugation</li></ul>	<li>K->M at 58: in a colorectal cancer sample; somatic mutation</li>	conjugation	GO:0000746								3
Q9H211	81620	<ul><li>RRL->AAA at 68-70: Abolishes binding of cyclin A-dependent protein kinases</li></ul>	<li>A->V at 135: in dbSNP:rs3218725</li><li>R->C at 172: in dbSNP:rs3218727</li><li>R->C at 234: in dbSNP:rs507329</li><li>T->A at 262: in dbSNP:rs480727</li><li>E->A at 456: in dbSNP:rs3218729</li><li>A->V at 537: in dbSNP:rs3218721</li>			binding	GO:0005488			<li>P30274</li><li>P00513</li><li>P51943</li><li>P25848</li><li>P20248</li><li>Q92161</li><li>P43449</li><li>P37881</li>		<li>rs3218727</li><li>rs507329</li><li>rs3218729</li><li>rs3218725</li><li>rs3218721</li><li>rs480727</li>	3
Q9H227	57733	<ul><li>V->Y at 168: No change in temperature or pH dependence. Decrease in specific activity</li><li>F->S at 225: Decrease in specific activity</li><li>Y->F,A at 308: Decrease in specific activity</li></ul>	<li>D->N at 106: rare polymorphism</li><li>M->I at 172: in dbSNP:rs36090352</li><li>R->P at 213: in dbSNP:rs17612341</li><li>C->R at 354: in dbSNP:rs16873108</li>									<li>rs16873108</li><li>rs17612341</li><li>rs36090352</li>	3
Q9H2G2	9748	<ul><li>K->R at 63: Loss of activity</li></ul>	<li>Q->K at 405: in a lung adenocarcinoma sample; somatic mutation</li><li>C->Y at 552: in dbSNP:rs805657</li><li>E->Q at 604: in an ovarian serous carcinoma sample; somatic mutation</li><li>A->G at 658: in dbSNP rsrs56400929</li><li>G->E at 666: in dbSNP:rs7071400</li><li>I->T at 679: in dbSNP rsrs34326537</li><li>K->N at 683: in dbSNP rsrs35389916</li><li>T->I at 697: in dbSNP:rs3740469</li>									<li>rs3740469</li><li>rs35389916</li><li>rs56400929</li><li>rs805657</li><li>rs34326537</li><li>rs7071400</li>	3
Q9H2G4	64061	<ul><li>S->A at 20: Impairs effect on cell proliferation; when associated with A-340</li><li>T->A at 340: Impairs effect on cell proliferation; when associated with A-20</li></ul>		cell proliferation	GO:0008283								1
Q9H2K8	51347	<ul><li>T->A at 181: No autophosphorylation and no kinase activity; when associated with F-183</li><li>Y->F at 183: No autophosphorylation and no kinase activity; when associated with A-181</li></ul>	<li>P->T at 20: in a lung adenocarcinoma sample; somatic mutation</li><li>S->N at 47: in dbSNP:rs428073</li><li>S->Y at 392: in a lung small cell carcinoma sample; somatic mutation</li><li>C->Y at 727: in dbSNP rsrs55857273</li>	autophosphorylation	GO:0046777	kinase activity	GO:0016301					<li>rs428073</li><li>rs55857273</li>	3
Q9H2S9	64375	<ul><li>PED->AAA at 425-427: No effect on CTBP2 interaction</li></ul>								P56545			1
Q9H2U1	170506	<ul><li>E->A at 335: Loss of ATPase activity resulting in loss of mRNA deadenylation and decay</li></ul>	<li>E->K at 151: in dbSNP:rs1058299</li><li>C->S at 416: in dbSNP:rs9438</li><li>I->N at 583: in dbSNP:rs17853513</li>			ATPase activity	GO:0016887					<li>rs1058299</li><li>rs9438</li><li>rs17853513</li>	3
Q9H2X6	28996	<ul><li>K->A at 228: Locates in the nucleoplasm, no effect on interaction with RANBP9</li><li>K->R at 228: Abolishes enzymatic activity, no effect on interaction with TP53 and TP73 or on BMP-induced transcriptional activation. Enhances BMP-induced transcriptional activation; when associated with 359-AAF-361</li><li>STY->AAF at 359-361: Enhances BMP-induced transcriptional activation; when associated with R-228</li></ul>	<li>R->Q at 792</li><li>R->Q at 1027</li>					nucleoplasm	GO:0005654	<li>Q9TUB2</li><li>Q9XSK8</li><li>P56423</li><li>P56424</li><li>O12946</li><li>P25035</li><li>P35855</li><li>O36006</li><li>Q64662</li><li>O57538</li><li>P61260</li><li>P10360</li><li>Q9W679</li><li>Q9W678</li><li>P13481</li><li>Q9TTA1</li><li>Q96S59</li><li>Q95330</li><li>O93379</li><li>P41685</li><li>Q96P70</li><li>Q8SPZ3</li><li>Q92143</li><li>P79820</li><li>Q29537</li><li>P04637</li><li>Q29480</li><li>O09185</li><li>Q00366</li><li>P79892</li><li>P51664</li><li>O15350</li><li>P67939</li><li>Q9WUR6</li><li>P67938</li>			3
Q9H300	55486	<ul><li>S->D at 65: Strongly reduces the beta cleavage; when associated with D-69 and D-70</li><li>T->D at 69: Strongly reduces the beta cleavage; when associated with D-65 and D-70</li><li>S->D at 70: Strongly reduces the beta cleavage; when associated with D-65 and D-69</li><li>R->E at 76: Abolishes the beta cleavage</li><li>R->G at 76: Abolishes the beta cleavage</li><li>S->E at 77: Abolishes the beta cleavage</li><li>A->E at 78: Abolishes the beta cleavage</li><li>L->E at 79: Abolishes the beta cleavage</li></ul>	<li>A->G at 137: in dbSNP:rs4912470</li><li>V->L at 262: in dbSNP:rs3732581</li>									<li>rs3732581</li><li>rs4912470</li>	3
Q9H307	5411	<ul><li>L->P at 8: Abolishes interaction with KRT18</li><li>L->P at 19: Abolishes interaction with KRT18</li><li>PE->AA at 502-503: Abolishes interaction with CTBP1 and shows moderate relief of CTBP1-mediated repression</li></ul>	<li>S->T at 441: in dbSNP:rs2180792</li><li>S->G at 671: in dbSNP:rs13021</li>							<li>Q13363</li><li>P05783</li>		<li>rs2180792</li><li>rs13021</li>	3
Q9H310	57127	<ul><li>F->A at 419: Loss of interaction with ANK3. Intracellular retention; when associated with A-420 and A-421</li><li>L->A at 420: Partial loss of interaction with ANK3. Intracellular retention; when associated with A-419 and A-421</li><li>D->A at 421: Partial loss of interaction with ANK3. Intracellular retention; when associated with A-419 and A-420</li></ul>	<li>G->D at 76: in dbSNP:rs2245623</li><li>V->D at 143: in dbSNP:rs11586833</li><li>G->R at 315: in dbSNP:rs3748569</li><li>C->R at 339: in dbSNP:rs3748567</li>					Intracellular	GO:0005622	<li>Q12955</li><li>O90760</li>		<li>rs3748567</li><li>rs3748569</li><li>rs11586833</li><li>rs2245623</li>	3
Q9H3D4	8626	<ul><li>F->A at 55: Abrogates transcriptional activity and interaction with transactivation inhibition domain; when associated with A-59 and A-62</li><li>W->A at 59: Abrogates transcriptional activity and interaction with transactivation inhibition domain; when associated with A-55 and A-62</li><li>L->A at 62: Abrogates transcriptional activity and interaction with transactivation inhibition domain; when associated with A-55 and A-59</li></ul>	<li>S->L at 129</li><li>S->L at 184: in head and neck cancer</li><li>A->P at 187: in lung carcinoma; somatic mutation</li><li>T->TP at 193: in SHFM4</li><li>Q->L at 204: in cervical cancer</li><li>K->E at 232: in SHFM4, MIM: 605289</li><li>K->E at 233: in SHFM4, MIM: 605289</li><li>R->Q at 243: in EEC3, MIM: 604292</li><li>R->W at 243: in EEC3, MIM: 604292</li><li>R->Q at 266: in EEC3, MIM: 604292</li><li>P->H at 279: in colon cancer, MIM: 604292</li><li>C->Y at 308: in EEC3, MIM: 604292</li><li>S->N at 311: in EEC3, MIM: 604292</li><li>R->C at 318: in EEC3, MIM: 604292</li><li>R->H at 318: in EEC3 and EDRH; does not decrease the transcriptional activity of the TAp63-gamma isoform on a TP53 reporter system but disrupts the dominant-negative activity of the delta-N-p63-alpha and -gamma isoforms on the transcriptional activity of TP53, MIM: 604292</li><li>R->Q at 318: in EEC3, MIM: 604292</li><li>R->C at 319: in EEC3, MIM: 604292</li><li>R->H at 319: in EEC3 and SHFM4, MIM: 605289</li><li>R->S at 319: in EEC3, MIM: 604292</li><li>R->Q at 337: in ADULT syndrome; confers novel transcription activation capacity on isoform 6, MIM: 103285</li><li>R->Q at 343: in EEC3, MIM: 604292</li><li>R->W at 343: in EEC3, MIM: 604292</li><li>C->R at 345: in EEC3; abolishes transcription activation, MIM: 604292</li><li>C->S at 347: in EEC3, MIM: 604292</li><li>P->S at 348: in EEC3, MIM: 604292</li><li>D->G at 351: in EEC3, MIM: 604292</li><li>D->H at 351: in EEC3, MIM: 604292</li><li>R->G at 352: in EDRH and OFC8, MIM: 129400</li><li>I->T at 549: in EDRH, MIM: 129400</li><li>L->F at 553: in AEC, MIM: 106260</li><li>S->A at 560: in ovarian cancer, MIM: 106260</li><li>C->G at 561: in AEC, MIM: 106260</li><li>S->P at 580: in EDRH, MIM: 129400</li><li>D->H at 603, MIM: 129400</li>	transcription	GO:0006350					<li>Q07065</li><li>Q9TUB2</li><li>P56423</li><li>P56424</li><li>O12946</li><li>P25035</li><li>O36006</li><li>Q64662</li><li>Q9JJP6</li><li>O57538</li><li>P10360</li><li>P61260</li><li>Q9FL16</li><li>Q9W679</li><li>Q9W678</li><li>P13481</li><li>Q9TTA1</li><li>Q95330</li><li>O93379</li><li>P41685</li><li>O88898</li><li>Q8SPZ3</li><li>P79820</li><li>Q92143</li><li>Q9P2Y5</li><li>P04637</li><li>Q29537</li><li>Q29480</li><li>O09185</li><li>Q9H3D4</li><li>P25420</li><li>Q00366</li><li>Q8BMK4</li><li>P79892</li><li>P51664</li><li>Q9WUR6</li><li>P67939</li><li>P67938</li>	<li>Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) [MIM:106260]</li><li>Split-hand/foot malformation 4 (SHFM4) [MIM:605289]</li><li>Non-syndromic orofacial cleft type 8 (OFC8) [MIM:129400]</li><li>Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) [MIM:103285]</li><li>Ectodermal dysplasia Rapp-Hodgkin type (EDRH) [MIM:129400]</li><li>Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]</li>		3
Q9H3N1	81542	<ul><li>C->S at 56: Loss of reductase activity; when associated with S-59</li><li>C->S at 59: Loss of reductase activity; when associated with S-56</li></ul>											1
Q9H3S5	93183	<ul><li>D->A at 49: Almost abolishes enzyme activity</li><li>D->A at 51: Abolishes enzyme activity</li></ul>	<li>F->L at 365: in dbSNP:rs12409352</li>									rs12409352	3
Q9H3U1	55898	<ul><li>K->E at 33: Abolishes interaction with HSP90AB1; when associated with D-40. No effect on interaction with PGR</li><li>A->D at 40: Abolishes interaction with HSP90AB1; when associated with E-33. No effect on interaction with PGR</li><li>K->E at 70: Abolishes interaction with HSP90AB1; when associated with D-77. No effect on interaction with PGR</li><li>A->D at 77: Abolishes interaction with HSP90AB1; when associated with E-70. No effect on interaction with PGR</li></ul>	<li>T->M at 796: in dbSNP:rs8041035</li>							<li>P30947</li><li>Q04619</li><li>P06401</li><li>Q76LV1</li><li>Q9GLW0</li><li>Q9EQZ5</li><li>Q9GKX8</li><li>P06186</li><li>Q28590</li><li>P08238</li><li>P07812</li><li>Q8AYI2</li><li>P79373</li>		rs8041035	3
Q9H400	54923	<ul><li>Y->F at 145: No change in binding to LCK, CSK or FYN</li><li>Y->F at 167: Abolishes binding to CSK</li><li>Y->F at 200: Reduces binding to CSK</li><li>Y->F at 235: No change in binding to LCK, CSK or FYN</li><li>Y->F at 254: Abolishes binding to LCK and reduces binding to FYN</li></ul>	<li>P->L at 211: in dbSNP:rs1151625</li>			binding	GO:0005488			<li>P06239</li><li>P42683</li><li>Q5PXS1</li><li>Q05876</li><li>P41239</li><li>Q0VBZ0</li><li>Q95KR7</li><li>P41240</li><li>P06241</li><li>P27446</li>		rs1151625	3
Q9H427	60598	<ul><li>R->Y at 138: No effect on lack of functional expression</li><li>LAAKC->HRAKK at 141-145: No effect on lack of functional expression</li><li>W->R at 151: No effect on lack of functional expression</li><li>C->D at 153: No effect on lack of functional expression</li></ul>	<li>G->E at 95: in TASK-5B; dbSNP:rs1111032</li><li>P->T at 260: in TASK-5B; dbSNP:rs6073538</li><li>P->H at 261: in TASK-5A; dbSNP:rs13037900</li><li>P->L at 323: in TASK-5B; dbSNP:rs13042905</li>							O14649		<li>rs13037900</li><li>rs6073538</li><li>rs1111032</li><li>rs13042905</li>	3
Q9H492	84557	<ul><li>G->A at 120: No processing of precursor</li></ul>											1
Q9H4D5	56000	<ul><li>L->R at 300: Inactivates CRM1 binding; when associated with R-302</li><li>L->R at 302: Inactivates CRM1 binding; when associated with R-300</li></ul>	<li>N->I at 186: in dbSNP:rs2301387</li>			binding	GO:0005488			<li>O14980</li><li>P30822</li>		rs2301387	3
Q9H4E7	50619	<ul><li>L->N at 18: Abolishes interaction with RAC1</li><li>LKV->NKS at 31-33: Abolishes interaction with RAC1</li><li>Y->F at 210: Loss of phosphorylation by LCK and abolition of PtdInsP3 binding</li><li>KR->AA at 225-226: Abolishes PtdInsP3 binding</li><li>RR->AA at 230-231: Abolishes PtdInsP3 binding</li><li>R->C at 236: Abolishes PtdInsP3 binding</li></ul>	<li>N->T at 287: in dbSNP:rs2395617</li><li>R->H at 578: in dbSNP:rs9296146</li>	phosphorylation	GO:0016310	binding	GO:0005488			<li>P06239</li><li>P42683</li><li>Q5PXS1</li><li>Q95KR7</li><li>Q9SSX0</li><li>O04369</li><li>Q38912</li><li>P13362</li><li>P62999</li><li>P80236</li><li>P62998</li><li>P63000</li>		<li>rs2395617</li><li>rs9296146</li>	3
Q9H4P4	10193	<ul><li>C->S at 34: Loss of activity; when associated with Q-36</li><li>H->Q at 36: Loss of activity; when associated with S-34</li><li>D->V at 56: Loss of activity</li></ul>											1
Q9H4X1	28984	<ul><li>T->A at 111: Loss of phosphorylation. Reduced stimulation of CDC2 activity</li></ul>		phosphorylation	GO:0016310					<li>Q9W739</li><li>Q9DGA2</li><li>Q9DGA5</li><li>P19026</li><li>Q5RCH1</li><li>Q9DG98</li><li>P06493</li><li>P48734</li><li>P43290</li><li>P23111</li><li>P13863</li><li>Q04770</li><li>P52389</li><li>P15436</li><li>P24100</li><li>P51958</li><li>P54119</li><li>Q41639</li><li>P93101</li><li>Q9DGD3</li>			1
Q9H5Q4	64216	<ul><li>G->A at 105: Abolishes methyltransferase activity</li></ul>	<li>P->L at 156: in dbSNP:rs11585481</li><li>H->Y at 264: in dbSNP:rs12037377</li>							<li>Q00020</li><li>P03588</li><li>P03589</li><li>Q83270</li><li>P28931</li><li>P06011</li><li>P17769</li><li>P20122</li><li>Q66121</li><li>O40976</li><li>P28726</li><li>P27752</li><li>Q83264</li>		<li>rs12037377</li><li>rs11585481</li>	3
Q9H5V8	64866	<ul><li>Y->F at 734: Impaired association with SRC</li><li>Y->F at 762: Impaired association with protein kinase PRKCG but not with SRC</li></ul>	<li>R->Q at 525: in dbSNP:rs3749191</li><li>A->V at 673: in dbSNP:rs35428731</li><li>G->D at 709: in dbSNP:rs9874077</li>							<li>P00513</li><li>P00523</li><li>P12931</li><li>P25848</li><li>P05129</li><li>P05128</li><li>P10829</li>		<li>rs35428731</li><li>rs9874077</li><li>rs3749191</li>	3
Q9H611	80119	<ul><li>K->A at 234: Loss of ATPase activity. Lower activity for single-stranded DNA</li></ul>	<li>I->N at 640: in dbSNP:rs17802279</li>			ATPase activity	GO:0016887					rs17802279	3
Q9H6P5	55617	<ul><li>D->A at 233: 0.1% enzymatic activity; no intramolecular processing</li><li>T->A at 234: Complete loss of enzymatic activity; no intramolecular processing</li></ul>											1
Q9H6Q3	84174	<ul><li>G->A at 2: Abolishes localization to membranes</li></ul>	<li>V->M at 210: in dbSNP:rs34834764</li>	localization	GO:0051179			membranes	GO:0016020			rs34834764	3
Q9H6Y7	26001	<ul><li>I->A at 232: Drastically increased stability; reduction in auto-ubiquitination activity; loss of cell delay/arrest in G1</li><li>W->A at 260: Drastically increased stability; reduction in auto-ubiquitination activity; loss of cell delay/arrest in G1</li></ul>	<li>N->K at 121: in dbSNP:rs1127356</li>									rs1127356	3
Q9H6Z9	112399	<ul><li>H->A at 135: Eliminates hydroxylase activity</li><li>D->A at 137: Eliminates hydroxylase activity</li><li>H->A at 196: Eliminates hydroxylase activity</li></ul>	<li>V->L at 136: in dbSNP:rs17102002</li><li>S->T at 234: in dbSNP:rs17101995</li>									<li>rs17102002</li><li>rs17101995</li>	3
Q9H7Z7	80142	<ul><li>C->S at 110: Loss of function</li><li>C->S at 113: Does not strongly affect enzyme activity</li></ul>	<li>R->H at 298: in dbSNP:rs13283456</li>									rs13283456	3
Q9H8N7	55893	<ul><li>L->A at 109: No change in subcellular location; when associated with A-113</li><li>L->A at 113: No change in subcellular location; when associated with A-109</li><li>M->A at 169: No shuttle from the nucleus to the cytoplasm; when associated with A-172</li><li>M->A at 172: No shuttle from the nucleus to the cytoplasm; when associated with A-169</li></ul>						<li>cytoplasm</li><li>nucleus</li>	<li>GO:0005737</li><li>GO:0005634</li>				1
Q9H8Y8	26003	<ul><li>T->A at 222: Abolishes mitotic phosphorylation; when associated with A-225</li><li>T->A at 225: Abolishes mitotic phosphorylation; when associated with A-222</li></ul>	<li>S->F at 432: in dbSNP:rs3770436</li>	phosphorylation	GO:0016310							rs3770436	3
Q9H9H5	79929	<ul><li>C->G at 5: Loss of Golgi colocalization and gain of microtubule colocalization; when associated with C-10 and C-11</li><li>C->G at 10: Loss of Golgi colocalization and gain of microtubule colocalization; when associated with C-5 and C-11</li><li>C->G at 11: Loss of Golgi colocalization and gain of microtubule colocalization; when associated with C-5 and C-10</li></ul>						microtubule	GO:0005874				1
Q9HAJ7	79685	<ul><li>RK->KS at 88-89: Impairs nuclear localization</li><li>RRYKRHYK->AAAAA at 120-127: Abolishes nucleolar localization</li></ul>		localization	GO:0051179								1
Q9HAU4	64750	<ul><li>F->A at 29: Increases autoubiquitination; when associated with A-30</li><li>F->A at 30: Increases autoubiquitination; when associated with A-29</li><li>T->A at 56: Increases autoubiquitination; when associated with A-57</li><li>L->A at 57: Increases autoubiquitination; when associated with A-56</li><li>Missing at 251-284: Abolishes interaction with SMAD2 and SMAD7</li><li>Missing at 297-330: Abolishes interaction with SMAD7</li><li>W->A at 535: Loss of catalytic activity</li><li>W->D at 535: Loss of catalytic activity</li><li>H->A at 547: Partial loss of catalytic activity</li><li>H->F,I at 547: Activates autocatalytic activity</li><li>Y->A at 581: Loss of catalytic activity</li><li>C->A at 716: Increases Smad7-bound TGF-beta receptors in membrane rafts</li><li>C->G at 716: Loss of activity. Loss of ability to ubiquitinate SMAD1 and SMAD2 and no down-regulation of SMAD1 and SMAD2 protein levels</li></ul>				catalytic activity	GO:0003824	membrane	GO:0016020	<li>Q15796</li><li>O35253</li><li>O15105</li><li>Q1JQA2</li><li>Q1W668</li><li>Q15797</li><li>O88406</li><li>Q9I962</li>			1
Q9HAU5	26019	<ul><li>RK->EE at 796-797: Strongly impairs RNA-binding</li><li>D->K at 847: Does not abolish interaction with RENT3B</li><li>ED->KR at 851-852: Does not abolish interaction with RENT3B. Does not abolish interaction with RENT3B; when associated with D-854</li><li>R->D at 854: Does not abolish interaction with RENT3B; when associated with K-851 and R-852</li><li>E->R at 858: Abolishes interaction with RENT3B</li><li>Y->A at 894: Does not impair RNA-binding; when associated with A-932</li><li>Y->A at 932: Does not impair RNA-binding; when associated with A-894</li></ul>	<li>N->S at 496: in dbSNP:rs7079388</li>			RNA-binding	GO:0003723			Q9BZI7		rs7079388	3
Q9HAV5	60401	<ul><li>E->R at 256: Abolishes TRAF6 association</li></ul>	<li>R->K at 57: in dbSNP:rs1385699</li><li>A->T at 129: in dbSNP:rs1385698</li>							Q9Y4K3		<li>rs1385698</li><li>rs1385699</li>	3
Q9HAW4	63967	<ul><li>T->A at 916: Impairs interaction with CHEK1</li><li>S->A at 945: Impairs interaction with CHEK1</li><li>S->A at 982: No effect on interaction with CHEK1</li></ul>	<li>H->R at 439: in a breast cancer sample; somatic mutation</li><li>N->S at 525: in dbSNP:rs7537203</li><li>P->T at 892: in dbSNP:rs34390044</li><li>S->L at 1280: in dbSNP:rs35490896</li>							<li>O14757</li><li>Q8AYC9</li>		<li>rs7537203</li><li>rs35490896</li><li>rs34390044</li>	3
Q9HAZ1	57396	<ul><li>K->R at 189: Loss of function</li></ul>	<li>L->F at 352: in dbSNP rsrs35272416</li><li>I->V at 363: in dbSNP rsrs55746655</li>									<li>rs35272416</li><li>rs55746655</li>	3
Q9HB21	59338	<ul><li>R->L at 28: No effect on phosphatidylinositide binding</li><li>AVM->GGG at 203-205: Abolishes phosphatidylinositide binding</li><li>AVM->GLV at 203-205: Binds both PtdIns3,4P2 and PtdIns3,4,5P3</li><li>AV->GG at 203-204: Binds both PtdIns3,4P2 and PtdIns3,4,5P3</li><li>A->G at 203: Binds both PtdIns3,4P2 and PtdIns3,4,5P3</li><li>V->L at 204: No effect</li><li>M->V at 205: No effect</li><li>N->T at 207: No effect</li><li>R->L at 211: Abolishes phosphatidylinositide binding</li></ul>	<li>T->A at 320: in dbSNP:rs1045216</li>			binding	GO:0005488					rs1045216	3
Q9HBA0	59341	<ul><li>RLRRDR->ELEEDE at 816-821: Loss of calmodulin binding; when associated with A-828</li><li>RWSS->AASA at 821-824: Loss of calmodulin binding</li><li>W->A at 822: Loss of Ca(2+) dependent current potentiation</li><li>R->A at 828: Loss of calmodulin binding; when associated with 816-ELEEDE-821</li></ul>	<li>P->S at 19: in dbSNP:rs3742030</li><li>A->T at 565: in dbSNP:rs11068298</li><li>R->Q at 616: in brachyolmia type 3; this mutation results in a gain of function and a constitutive activation of the channel, MIM: 113500</li><li>V->I at 620: in brachyolmia type 3; this mutation results in a gain of function and a constitutive activation of the channel, MIM: 113500</li>			binding	GO:0005488			<li>Q40302</li><li>Q8STF0</li><li>P04353</li><li>P41040</li><li>P04352</li><li>Q9GRJ1</li><li>P61860</li><li>P02594</li><li>P02595</li><li>P61861</li><li>P48976</li><li>O82018</li><li>P62144</li><li>P62184</li><li>P93171</li><li>P62145</li><li>P07463</li><li>Q5RAD2</li><li>P24044</li><li>P11121</li><li>P62149</li><li>O02367</li><li>P06787</li><li>Q6IT78</li><li>P05935</li><li>P05933</li><li>O16305</li><li>Q6PI52</li><li>P05934</li><li>Q6YNX6</li><li>Q7Y052</li><li>Q95NR9</li><li>P11118</li><li>P62157</li><li>P62156</li><li>P21251</li><li>P62155</li><li>Q5EHV7</li><li>P62154</li><li>P62152</li><li>P62151</li><li>Q7T3T2</li><li>P69097</li><li>P69098</li><li>P60206</li><li>Q9U6D3</li><li>Q9HFY6</li><li>P60205</li><li>P60204</li><li>P62158</li><li>O96102</li><li>P18061</li><li>P62201</li><li>P11120</li><li>P93087</li><li>Q8X187</li><li>O60041</li><li>P62160</li><li>P62204</li><li>Q05055</li><li>P62203</li><li>P61859</li><li>P62202</li><li>P17928</li><li>P15094</li><li>Q95NI4</li><li>P02598</li><li>P62162</li><li>Q9UWF0</li><li>P02599</li><li>P62161</li><li>Q71UH6</li><li>Q71UH5</li><li>O97341</li><li>P04464</li><li>P27165</li><li>Q39752</li><li>P27166</li><li>P84339</li><li>P23286</li><li>P27161</li><li>O94739</li><li>P41041</li><li>Q6R520</li>	Brachyolmia type 3 [MIM:113500]	<li>rs3742030</li><li>rs11068298</li>	3
Q9HBF4	53349	<ul><li>T->R at 616: Partially restore PtdIns3P binding; when associated with R-733</li><li>K->A at 617: Drastically reduce PtdIns3P binding; when associated with A-619 and A-621. Abolishes PtdIns3P binding; when associated with A-734; A-736 and A-738</li><li>H->A at 619: Drastically reduce PtdIns3P binding; when associated with A-617 and A-621. Abolishes PtdIns3P binding; when associated with A-734; A-736 and A-738</li><li>R->A at 621: Drastically reduce PtdIns3P binding; when associated with A-617 and A-619. Abolishes PtdIns3P binding; when associated with A-734; A-736 and A-738</li><li>C->S at 654: Abolishes PtdIns3P binding; when associated with S-770</li><li>S->R at 733: Partially restored PtdIns3P binding; when associated with R-616</li><li>K->A at 734: Drastically reduce PtdIns3P binding; when associated with A-736 and A-738. Abolishes PtdIns3P binding; when associated with A-617; A-619 and A-621</li><li>H->A at 736: Drastically reduce PtdIns3P binding; when associated with A-734 and A-738. Abolishes PtdIns3P binding; when associated with A-617; A-619 and A-621</li><li>R->A at 738: Drastically reduce PtdIns3P binding; when associated with A-734 and A-736. Abolishes PtdIns3P binding; when associated with A-617; A-619 and A-621</li><li>C->S at 770: Abolishes PtdIns3P binding; when associated with S-654</li></ul>				binding	GO:0005488						1
Q9HBH9	2872	<ul><li>T->A at 244: Loss of kinase activity; when associated with T-249</li><li>T->A at 249: Loss of kinase activity; when associated with T-244</li><li>T->D at 379: Constitutively active</li></ul>	<li>Q->K at 10: in dbSNP:rs3746101</li><li>D->N at 73: in dbSNP rsrs56158214</li><li>R->Q at 428: in dbSNP:rs34475638</li>			kinase activity	GO:0016301					<li>rs56158214</li><li>rs3746101</li><li>rs34475638</li>	3
Q9HBW0	9170	<ul><li>D->A at 348: Abolishes interaction with MAGI3</li><li>S->A at 349: Abolishes interaction with MAGI3</li><li>T->A at 350: Does not affect interaction with MAGI3</li><li>L->A at 351: Abolishes interaction with MAGI3</li></ul>											1
Q9HBX9	59350	<ul><li>D->Y at 637: Leads to constitutive increase of basal cAMP</li></ul>											1
Q9HBY0	50508	<ul><li>P->H at 413: Loss of catalytic activity</li></ul>	<li>T->K at 171: in dbSNP:rs3749930</li>			catalytic activity	GO:0003824					rs3749930	3
Q9HBY8	10110	<ul><li>S->D at 416: Increased activation</li></ul>	<li>S->T at 12: in dbSNP:rs33969356</li><li>E->K at 259: in a lung adenocarcinoma sample; somatic mutation</li><li>H->Y at 349: in dbSNP rsrs35793869</li>									<li>rs35793869</li><li>rs33969356</li>	3
Q9HC16	60489	<ul><li>E->Q at 67: Decreases cytidine deaminase activity</li><li>H->A at 81: Decreases cytidine deaminase activity</li><li>E->Q at 85: Does not decrease cytidine deaminase activity</li><li>C->A at 97: Decreases cytidine deaminase activity</li><li>C->A,S at 100: Decreases cytidine deaminase activity</li><li>D->K at 128: Complete loss of VIF-induced degradation</li><li>C->S at 221: Does not decrease cytidine deaminase activity</li><li>H->A at 257: Decreases cytidine deaminase activity</li><li>E->Q at 259: Decreases cytidine deaminase activity</li><li>C->A at 288: Decreases cytidine deaminase activity</li><li>C->A,S at 291: Decreases cytidine deaminase activity</li><li>E->Q at 323: Does not decrease cytidine deaminase activity</li></ul>	<li>H->R at 186: in dbSNP:rs8177832</li><li>R->H at 256: in dbSNP:rs17000736</li><li>Q->E at 275: in dbSNP:rs17496046</li>							<li>Q9KSM5</li><li>P47298</li><li>Q7MK48</li><li>Q8ZG08</li><li>Q06549</li><li>Q7N6K3</li><li>Q65RG8</li><li>Q3IBX5</li><li>Q8X648</li><li>P56389</li><li>Q9S3M0</li><li>Q4QK60</li><li>Q32EM3</li><li>P44325</li><li>P32320</li><li>P47718</li><li>Q6D3B4</li><li>Q57MF5</li><li>Q5E4R6</li><li>Q6LRI0</li><li>Q322V3</li><li>Q66C79</li><li>Q3Z062</li><li>P19079</li><li>P0ABF6</li><li>P0ABF7</li><li>Q87Q52</li><li>Q8EDG1</li><li>Q9CP11</li><li>Q7VMJ6</li><li>Q5PE68</li><li>Q8DA31</li><li>Q9KD53</li><li>Q8FFV3</li><li>P53348</li><li>P75051</li><li>Q8Z5A8</li><li>Q8ZNM0</li>		<li>rs8177832</li><li>rs17496046</li><li>rs17000736</li>	3
Q9HC29	64127	<ul><li>K->R at 305: No activation</li></ul>	<li>L->V at 81: in dbSNP:rs34936594</li><li>A->T at 140: in CD and ulcerative colitis; dbSNP:rs34684955, MIM: 191390</li><li>W->R at 157: in CD, MIM: 266600</li><li>T->M at 189, MIM: 266600</li><li>R->C at 235: in CD, MIM: 266600</li><li>L->R at 248: in CD, MIM: 266600</li><li>P->S at 268: in dbSNP:rs2066842, MIM: 266600</li><li>N->S at 289: in dbSNP:rs5743271, MIM: 266600</li><li>D->N at 291: in CD, MIM: 266600</li><li>T->S at 294: in CD, MIM: 266600</li><li>A->V at 301: in CD, MIM: 266600</li><li>R->W at 311: in CD; also in ulcerative colitis, MIM: 266600</li><li>R->Q at 334: in BS, MIM: 186580</li><li>R->W at 334: in BS, MIM: 186580</li><li>L->V at 348: in CD, MIM: 266600</li><li>H->R at 352: in CD; dbSNP:rs5743272, MIM: 266600</li><li>R->C at 373: in CD, MIM: 266600</li><li>D->E at 382: in EOS, MIM: 609464</li><li>E->K at 383: in BS, MIM: 186580</li><li>N->S at 414: in CD, MIM: 266600</li><li>S->L at 431: in CD, MIM: 266600</li><li>A->V at 432: in CD; dbSNP:rs2076754, MIM: 266600</li><li>E->K at 441: in CD, MIM: 266600</li><li>L->F at 469: in BS, MIM: 186580</li><li>R->C at 471: in dbSNP:rs1078327, MIM: 186580</li><li>H->L at 496: in EOS, MIM: 609464</li><li>A->T at 612: in CD and EOS, MIM: 609464</li><li>A->V at 612: in CD, MIM: 266600</li><li>R->W at 684: in CD; dbSNP:rs5743276, MIM: 266600</li><li>R->W at 702: in CD; risk factor for CD; dbSNP:rs2066844, MIM: 266600</li><li>R->C at 703: in CD; also in ulcerative colitis; dbSNP:rs5743277, MIM: 266600</li><li>R->C at 713: in CD, MIM: 266600</li><li>A->G at 725: in CD; dbSNP:rs5743278, MIM: 266600</li><li>A->V at 755: in CD; also in ulcerative colitis, MIM: 266600</li><li>A->V at 758: in CD, MIM: 266600</li><li>E->K at 778: in CD, MIM: 266600</li><li>R->Q at 790: in dbSNP:rs5743279, MIM: 266600</li><li>V->M at 793: in CD, MIM: 266600</li><li>E->K at 843: in CD, MIM: 266600</li><li>N->S at 853: in CD, MIM: 266600</li><li>M->V at 863: in CD, MIM: 266600</li><li>A->T at 885: in ulcerative colitis, MIM: 191390</li><li>G->R at 908: in CD; dbSNP:rs2066845, MIM: 266600</li><li>A->D at 918: in CD; risk factor for CD, MIM: 266600</li><li>G->D at 924: in CD, MIM: 266600</li><li>V->I at 955: in dbSNP:rs5743291, MIM: 266600</li>								<li>Blau syndrome (BS) [MIM:186580]</li><li>Crohn disease (CD) [MIM:266600]</li><li>Ulcerative colitis [MIM:191390]</li><li>Early-onset sarcoidosis (EOS) [MIM:609464]</li>	<li>rs2066844</li><li>rs2066845</li><li>rs2076754</li><li>rs5743279</li><li>rs34684955</li><li>rs5743277</li><li>rs1078327</li><li>rs5743278</li><li>rs5743291</li><li>rs2066842</li><li>rs5743272</li><li>rs5743271</li><li>rs34936594</li><li>rs5743276</li>	3
Q9HC84	727897	<ul><li>W->A at 1791: Poorly secreted</li></ul>	<li>T->S at 5137: in dbSNP:rs2672788</li>									rs2672788	3
Q9HC98	10783	<ul><li>K->M at 74: Loss of autophosphorylation and of kinase activity and induction of apoptosis; when associated with M-75</li><li>K->M at 75: Loss of autophosphorylation and of kinase activity and induction of apoptosis; when associated with M-74</li></ul>		<li>autophosphorylation</li><li>induction of apoptosis</li>	<li>GO:0046777</li><li>GO:0006917</li>	kinase activity	GO:0016301						1
Q9HCD5	57727	<ul><li>I->A at 342: Abolishes E2-inducible strong interaction with ESR1, but not basal interaction</li><li>LL->AA at 348-349: Abolishes interaction with ESR1</li></ul>	<li>E->G at 326: in dbSNP:rs11549557</li>			E2	GO:0004840			<li>Q9TV98</li><li>Q9QZJ5</li><li>P49884</li><li>Q91424</li><li>Q91250</li><li>Q29040</li><li>P38111</li><li>Q9YHT3</li><li>P50242</li><li>P50241</li><li>P03372</li><li>P16058</li><li>P50240</li><li>Q9PVZ9</li><li>Q9YH33</li><li>P06212</li><li>P57753</li><li>P49885</li><li>Q53AD2</li><li>P49886</li><li>O42132</li><li>Q9YHZ7</li>		rs11549557	3
Q9HCE7	57154	<ul><li>C->A at 725: Loss of ubiquitination capacity</li></ul>	<li>S->Y at 466: in dbSNP:rs13246077</li>									rs13246077	3
Q9HCN6	51206	<ul><li>K->A at 61: Increases collagen binding</li><li>K->E at 79: Dramatically reduces collagen binding</li><li>R->A at 80: Reduces collagen binding</li><li>N->A at 92: Reduces collagen binding (65 to 70%)</li><li>S->A at 94: Reduces collagen binding (65 to 70%)</li><li>L->H at 95: No effect on collagen binding</li><li>R->A at 186: Reduces collagen binding</li></ul>				collagen binding	GO:0005518						1
Q9HCR9	50940	<ul><li>D->A at 355: Induces a decrease in enzyme activity due to the inability of cGMP to bind and stimulate enzyme activity</li></ul>	<li>R->H at 804</li><li>R->G at 867: in dbSNP rsrs61306957</li>									rs61306957	3
Q9HCU8	57804	<ul><li>I->A at 7: Abolishes interaction with PCNA; when associated with 10-AA-11</li><li>SY->A at 10-11: Abolishes interaction with PCNA; when associated with A-7</li></ul>	<li>R->P at 39: in dbSNP rsrs28364240</li>							<li>O16852</li><li>Q9HJQ0</li><li>Q6B6N4</li><li>Q8PX25</li><li>P61074</li><li>O29912</li><li>Q9DDF1</li><li>Q43124</li><li>Q57697</li><li>P18248</li><li>O02115</li><li>P53358</li><li>O01377</li><li>Q6LWJ8</li><li>Q9MAY3</li><li>Q00268</li><li>Q8TUF7</li><li>Q00265</li><li>Q9DEA3</li><li>P17070</li><li>Q9M7Q7</li><li>O58398</li><li>O10308</li><li>P17917</li><li>P31008</li><li>P61258</li><li>P17918</li><li>P11038</li><li>P15873</li><li>Q7T6Y0</li><li>Q03392</li><li>P22177</li><li>P04961</li><li>Q979S2</li><li>P57761</li><li>O73947</li><li>Q9W644</li><li>Q9UWR9</li><li>Q9PTP1</li><li>Q74MV1</li><li>Q8TWK3</li><li>O82134</li><li>Q9HN45</li><li>Q6KZF1</li><li>O82797</li><li>P12004</li><li>P24314</li><li>Q9UYX8</li><li>Q9P9H8</li><li>Q43266</li><li>O27367</li>		rs28364240	3
Q9HD26	57120	<ul><li>L->V at 175: No effect on subcellular location; when associated with V-182; V-189 and V-196</li><li>L->V at 182: No effect on subcellular location; when associated with V-175; V-189 and V-196</li><li>L->V at 189: No effect on subcellular location; when associated with V-175; V-182 and V-196</li><li>L->V at 196: No effect on subcellular location; when associated with V-175; V-182 and V-189</li></ul>											1
Q9HD40	51091	<ul><li>K->A at 284: Loss of activity</li></ul>											1
Q9HD43	5794	<ul><li>D->A at 986: Loss of activity. Acts as a dominant negative mutant</li><li>C->S at 1020: Loss of activity. No induction of apoptosis</li></ul>	<li>H->Y at 348: in dbSNP:rs2288515</li><li>L->F at 543: in dbSNP:rs16986309</li><li>K->N at 781: in dbSNP:rs2288523</li><li>E->K at 823: in dbSNP:rs890870</li><li>I->V at 1076: in dbSNP:rs2288419</li>	induction of apoptosis	GO:0006917							<li>rs890870</li><li>rs16986309</li><li>rs2288515</li><li>rs2288523</li><li>rs2288419</li>	3
Q9NNX6	30835	<ul><li>LL->AA at 14-15: Loss of antigen internalization by endocytosis</li><li>D->A at 320: Loss of binding to ICAM3 and HIV-1 gp120</li><li>E->A at 324: Loss of binding to ICAM3 and HIV-1 gp120</li><li>E->Q at 347: Loss of binding to ICAM3 and HIV-1 gp120</li><li>N->D at 349: Loss of binding to ICAM3 and HIV-1 gp120</li><li>N->A at 350: Loss of binding to ICAM3 and HIV-1 gp120</li><li>D->A at 355: Loss of binding to ICAM3 and HIV-1 gp120</li><li>N->D at 365: Loss of binding to ICAM3 and HIV-1 gp120</li><li>D->A at 366: Loss of binding to ICAM3 and HIV-1 gp120</li></ul>	<li>E->D at 168: in dbSNP:rs11465377</li><li>E->D at 214: in dbSNP:rs11465377</li><li>L->V at 242: in dbSNP:rs11465380</li><li>A->S at 382: in dbSNP:rs11465393</li>	endocytosis	GO:0006897	binding	GO:0005488			<li>P32942</li><li>Q5NKU6</li><li>Q28125</li>		<li>rs11465393</li><li>rs11465377</li><li>rs11465380</li>	3
Q9NP77	29101	<ul><li>C->S at 12: Abolishes phosphatase activity</li></ul>								<li>Q7M7K5</li><li>Q5X1E5</li><li>Q7MAZ9</li><li>Q8XBL4</li><li>Q7MBF4</li><li>Q5P3T0</li><li>Q88A53</li><li>Q5PC82</li><li>Q8Z3M9</li><li>Q821A6</li><li>Q5ZRX9</li><li>Q87SK9</li><li>Q9JZ88</li><li>Q9CP21</li><li>Q82U82</li><li>Q9I5V3</li><li>Q5F8K9</li><li>Q63YC3</li><li>Q8Y395</li><li>Q6LV05</li><li>Q8ZLY4</li><li>Q6FA38</li><li>Q9PDL7</li><li>Q62EU1</li><li>Q9JUB2</li><li>Q5WT58</li><li>Q665U9</li><li>Q57JQ5</li><li>Q9KPC6</li><li>Q8CWL6</li><li>Q8P5D4</li><li>Q8PPG9</li><li>P06961</li><li>P45269</li><li>Q88QU2</li><li>Q9L7A3</li><li>Q6D160</li><li>Q87DS9</li><li>Q60CQ4</li><li>Q8ZI64</li><li>Q65Q41</li><li>Q5E2K7</li><li>Q8CXX6</li>			1
Q9NPB6	50855	<ul><li>K->A at 19: Loss of interaction with PRKCI</li><li>R->A at 28: Slight decrease of interaction with PRKCI. Loss of interaction with PRKCI; when associated with A-89</li><li>R->A at 89: Slight decrease of interaction with PRKCI. Loss of interaction with PRKCI; when associated with A-28</li></ul>	<li>V->I at 286: in dbSNP:rs35356834</li>							<li>Q5R4K9</li><li>P41743</li>		rs35356834	3
Q9NPC3	57820	<ul><li>C->A at 28: Abrogates induction of filamentous growth in yeast; when associated with A-30 and A-33</li><li>H->A at 30: Abrogates induction of filamentous growth in yeast; when associated with A-28 and A-33</li><li>C->A at 33: Abrogates induction of filamentous growth in yeast; when associated with A-28 and A-30</li></ul>		filamentous growth	GO:0030447								1
Q9NPF2	50515	<ul><li>K->Q at 125: Abolishes enzyme activity but does not affect stability of the protein</li><li>N->S at 205: Induces a weak decrease in enzyme activity but has no effect on stability of the protein. Unstable protein; when associated with S-223 and S-321</li><li>N->S at 223: Induces a weak decrease in enzyme activity but has no effect on stability of the protein. Unstable protein; when associated with S-205 and S-321</li><li>N->S at 321: Induces a strong decrease in enzyme activity but has no effect on stability of the protein. Unstable protein; when associated with S-205 and S-223</li><li>N->S at 342: Induces a strong decrease in enzyme activity has no effect on stability of the protein</li></ul>											1
Q9NPH0	51205	<ul><li>H->A at 59: Decreased activity</li></ul>	<li>M->V at 316: in dbSNP:rs6593795</li>									rs6593795	3
Q9NPH5	50507	<ul><li>R->RGT at 304: Partial loss of catalytic activity. No effect on CYBA localization</li><li>Missing at 575-578: Partial loss of catalytic activity. No effect on CYBA localization</li></ul>	<li>M->I at 315: in dbSNP:rs317139</li>	localization	GO:0051179	catalytic activity	GO:0003824			<li>Q95MN4</li><li>P52650</li><li>P13498</li><li>Q95L73</li><li>Q9N2H0</li><li>O46521</li>		rs317139	3
Q9NPI5	27231	<ul><li>D->A at 35: Loss of activity</li><li>E->A at 100: Loss of activity</li></ul>	<li>E->K at 178: in dbSNP:rs16992131</li>									rs16992131	3
Q9NPI6	55802	<ul><li>D->A at 20: Lowers decapping activity</li><li>R->A at 59: Lowers decapping activity</li></ul>											1
Q9NPI8	2188	<ul><li>L->R at 209: Reduced monoubiquitination of FANCD2</li><li>F->R at 251: Reduced monoubiquitination of FANCD2</li><li>Y->A at 287: Strongly reduced monoubiquitination of FANCD2; when associated with A-289; A-339; A-341 and A-344</li><li>L->A at 289: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-339; A-341 and A-344</li><li>F->A at 339: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-289; A-341 and A-344</li><li>V->A at 341: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-289; A-339 and A-344</li><li>L->A at 344: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-289; A-339 and A-341</li></ul>	<li>V->I at 295: in dbSNP:rs7103293</li><li>P->L at 320: in dbSNP rsrs45451294</li>							Q9BXW9		<li>rs7103293</li><li>rs45451294</li>	3
Q9NPJ4	100132235	<ul><li>P->A at 101: Abolishes the interaction with the nuclear receptors; when associated with A-104</li><li>P->A at 104: Abolishes the interaction with the nuclear receptors; when associated with A-101</li></ul>											1
Q9NQ94	29974	<ul><li>F->A at 59: Greatly reduced RNA binding</li><li>F->A at 100: Greatly reduced RNA binding</li><li>F->A at 139: Greatly reduced RNA binding</li><li>F->A at 183: Greatly reduced RNA binding</li><li>Y->A at 234: Slightly reduced RNA binding</li><li>F->A at 270: Slightly reduced RNA binding</li></ul>	<li>V->M at 555: in dbSNP:rs9073</li>			RNA binding	GO:0003723					rs9073	3
Q9NQB0	6934	<ul><li>DD->AA at 10-11: Reduces CTNNB1 binding</li><li>D->A at 16: Abolishes CTNNB1 binding</li><li>E->A at 17: Reduces CTNNB1 binding</li><li>I->A at 19: Reduces transcription activation</li><li>F->A at 21: Reduces transcription activation</li><li>DE->AA at 23-24: Reduces CTNNB1 binding</li><li>E->A at 24: Reduces CTNNB1 binding, and abolishes CTNNB1 binding; when associated with A-26; A-28 and A-29</li><li>E->A at 26: Abolishes CTNNB1 binding; when associated with A-24; A-28 and A-29</li><li>E->A at 28: Abolishes CTNNB1 binding; when associated with A-24; A-26 and A-29</li><li>E->A at 29: Reduces CTNNB1 binding, and abolishes CTNNB1 binding; when associated with A-24; A-26 and A-28</li><li>L->A at 48: Abolishes CTNNB1 binding</li><li>K->R at 320: Loss of sumoylation. No effect on localization to nuclear bodies</li><li>E->A at 322: Loss of sumoylation</li></ul>	<li>K->N at 346: in dbSNP:rs2757884</li><li>R->C at 465: in a colorectal cancer sample; somatic mutation</li>	<li>sumoylation</li><li>transcription</li><li>localization</li>	<li>GO:0016925</li><li>GO:0006350</li><li>GO:0051179</li>	binding	GO:0005488			P35222		rs2757884	3
Q9NQC7	1540	<ul><li>S->A at 457: Abolishes binding to TRAF2</li><li>C->S at 601: Loss of deubiquitinating activity</li><li>H->N at 871: Loss of deubiquitinating activity</li></ul>	<li>E->G at 747: in MFT1 and BRSS, MIM: 601606</li>			binding	GO:0005488			<li>Q03218</li><li>Q12933</li><li>P33441</li>	<li>Brooke-Spiegler syndrome (BRSS) [MIM:605041]</li><li>Multiple familial trichoepithelioma type 1 (MFT1) [MIM:601606]</li>		3
Q9NQE9	135114	<ul><li>H->A at 145: Abolishes hydrolase activity</li></ul>	<li>G->A at 36: 2.5-fold increase in affinity for indolepropinoic acyl-adenylate and cytosine; 2-fold decrease in hypoxanthine affinity; nearly no change in affinity for adenine, guanine and uracil; dbSNP:rs2295005</li>			hydrolase activity	GO:0016787					rs2295005	3
Q9NQR1	387893	<ul><li>Y->A,F at 286: Strongly reduces affinity for histone H4 and abolishes methyltransferase activity</li><li>E->A at 300: Strongly reduces affinity for histone H4</li><li>C->A at 311: Strongly reduces affinity for histone H4</li><li>R->G at 336: Abolishes methyltransferase activity</li><li>H->A at 340: Strongly decreases methyltransferase activity</li><li>Y->A at 375: Strongly reduces affinity for histone H4 and methyltransferase activity</li><li>Y->F at 375: Alters methyltransferase activity, so that both monomethylation and dimethylation take place</li><li>D->A,N at 379: Abolishes histone H4 binding and methyltransferase activity</li><li>Missing at 385-393: Abolishes methyltransferase activity</li><li>H->A,E at 388: Strongly reduces affinity for histone H4</li><li>H->F at 388: Increases affinity for histone H4</li></ul>				binding	GO:0005488			<li>Q76FE7</li><li>P82888</li><li>Q6LAF1</li><li>Q6LAF3</li><li>P91882</li><li>Q8MTV8</li><li>Q27443</li><li>Q76FD9</li><li>P08436</li><li>P35059</li><li>P35057</li><li>P91890</li><li>Q6WZ83</li><li>P83865</li><li>P84048</li><li>P84049</li><li>P84044</li><li>Q7K8C0</li><li>Q7KQD1</li><li>P84045</li><li>P62779</li><li>P84046</li><li>P62778</li><li>P84047</li><li>P62777</li><li>P84040</li><li>Q8I0Y4</li><li>P62776</li><li>P84041</li><li>P84042</li><li>P84043</li><li>Q43083</li><li>P84050</li><li>Q6WV90</li><li>P62782</li><li>P62781</li><li>Q8NIG3</li><li>P62784</li><li>P62783</li><li>P62780</li><li>P28931</li><li>Q9HDF5</li><li>Q7LKT3</li><li>P62789</li><li>Q6WV73</li><li>Q27765</li><li>P62788</li><li>P62787</li><li>P20122</li><li>Q6WV74</li><li>P17769</li><li>P59259</li><li>Q7M3Z5</li><li>O40976</li><li>P27752</li><li>P91849</li><li>Q6ZXX3</li><li>P03588</li><li>P03589</li><li>P09322</li><li>Q76H85</li><li>P62796</li><li>P62797</li><li>P62798</li><li>P62799</li><li>P28726</li><li>P62790</li><li>P62791</li><li>P62792</li><li>P62793</li><li>P62794</li><li>P62795</li><li>Q6WV72</li><li>Q00020</li><li>P80739</li><li>P80738</li><li>Q66121</li><li>Q9U7D0</li><li>P27996</li><li>P90516</li><li>Q8T7J8</li><li>P62803</li><li>P62802</li><li>P62801</li><li>P62800</li><li>Q76MU7</li><li>P02309</li><li>Q8J1L3</li><li>Q6V9I2</li><li>P62806</li><li>P50566</li><li>P62804</li><li>P62805</li><li>P04915</li><li>Q76FF5</li><li>Q8SQP4</li><li>P04914</li><li>Q76FF1</li><li>Q83270</li><li>P06011</li><li>Q6PMI5</li><li>P62887</li><li>Q71V09</li><li>P40287</li><li>Q83264</li>			1
Q9NQR9	57818	<ul><li>N->A at 50: No effect on N-glycosylation</li><li>N->A at 92: Loss of N-glycosylation</li><li>N->A at 287: No effect on N-glycosylation</li></ul>	<li>I->V at 171: in dbSNP:rs2232322</li><li>Y->S at 207: in dbSNP:rs2232323</li><li>V->L at 219: in dbSNP:rs492594</li><li>S->P at 324: in dbSNP:rs2232326</li><li>P->L at 340: in dbSNP:rs2232327</li><li>S->C at 342: in dbSNP:rs2232328</li>									<li>rs2232322</li><li>rs492594</li><li>rs2232323</li><li>rs2232326</li><li>rs2232327</li><li>rs2232328</li>	3
Q9NQW6	54443	<ul><li>R->A at 32: Abrogates interaction with CD2AP</li><li>R->A at 41: Abrogates ubiquitin-mediated proteolysis; when associated with A-44</li><li>L->A at 44: Abrogates ubiquitin-mediated proteolysis; when associated with A-41</li></ul>	<li>S->W at 65: in dbSNP:rs3735400</li><li>R->K at 185: in dbSNP:rs197367</li>							<li>P69326</li><li>P08565</li><li>P69322</li><li>P69323</li><li>P69324</li><li>P69325</li><li>P68196</li><li>O46543</li><li>P68197</li><li>Q05550</li><li>P68198</li><li>P68199</li><li>P19848</li><li>P68195</li><li>P42739</li><li>Q867C2</li><li>P62991</li><li>P62990</li><li>P61863</li><li>P61864</li><li>P61862</li><li>Q867C4</li><li>Q867C3</li><li>P23398</li><li>P68204</li><li>P84589</li><li>Q865C5</li><li>P42740</li><li>P68201</li><li>Q8MKD1</li><li>P14792</li><li>P63049</li><li>P0C072</li><li>P63051</li><li>P69308</li><li>P69309</li><li>P20685</li><li>Q9Y5K6</li><li>P15174</li><li>P62976</li><li>P62977</li><li>P62974</li><li>P62975</li><li>P62972</li><li>P13117</li><li>P14624</li><li>P62973</li><li>P46574</li><li>P69310</li><li>P69313</li><li>P69314</li><li>P69311</li><li>P69312</li><li>P08618</li><li>P69317</li><li>P69318</li><li>P0C014</li><li>P69315</li><li>P69316</li><li>P59263</li><li>P69319</li><li>P49634</li><li>P49635</li><li>P22589</li><li>Q9Y848</li><li>P62988</li><li>P62989</li><li>P23324</li><li>P69321</li><li>P69320</li><li>P59669</li>		<li>rs197367</li><li>rs3735400</li>	3
Q9NQX7	81618	<ul><li>KR->AA at 241-242: Completely abrogates proteolytic processing</li></ul>	<li>G->S at 53: in dbSNP:rs2289235</li>									rs2289235	3
Q9NR12	9260	<ul><li>GF->AA at 15-16: Loss of binding to TPM2</li><li>H->A at 63: Loss of binding to TPM2</li></ul>	<li>A->T at 326: in dbSNP:rs2306764</li><li>K->N at 450: in a breast cancer sample; somatic mutation</li>			binding	GO:0005488			<li>P07951</li><li>P40414</li><li>P19352</li><li>P58776</li><li>Q9U5M4</li>		rs2306764	3
Q9NR20	8798	<ul><li>K->R at 133: Loss of kinase activity</li></ul>	<li>A->T at 61: in dbSNP:rs12306130</li><li>A->S at 70</li><li>V->I at 95</li><li>N->S at 189: in dbSNP:rs3741927</li><li>D->V at 454: in dbSNP:rs1801016</li>			kinase activity	GO:0016301					<li>rs12306130</li><li>rs3741927</li><li>rs1801016</li>	3
Q9NR22	56341	<ul><li>G->A at 2: Loss of cell membrane localization</li></ul>		localization	GO:0051179			cell membrane	GO:0005886				1
Q9NR71	56624	<ul><li>S->A at 258: Impairs enzyme activity</li><li>D->A at 352: Abolishes enzyme activity</li><li>S->A at 354: Abolishes enzyme activity</li><li>C->A at 362: Abolishes enzyme activity</li><li>S->A at 374: Impairs enzyme activity</li><li>S->A at 396: No effect</li><li>S->A at 595: Impairs enzyme activity</li><li>S->A at 729: Impairs enzyme activity</li></ul>	<li>T->A at 51: in dbSNP:rs7067625</li><li>A->S at 346: in dbSNP:rs993869</li>									<li>rs993869</li><li>rs7067625</li>	3
Q9NR83	56731	<ul><li>L->A at 257: Nuclear; when associated with A-260</li><li>L->A at 260: Nuclear; when associated with A-257</li><li>F->A at 273: Cytoplasmic; when associated with A-276</li><li>L->A at 276: Cytoplasmic; when associated with A-273</li></ul>	<li>E->D at 233: in dbSNP:rs8957</li>									rs8957	3
Q9NRA1	56034	<ul><li>C->S at 124: Loss of mitogenic activity of CUB domain in coronary artery smooth muscle cells</li><li>R->A at 231: Essential for cleavage by PLAT</li><li>K->A at 232: Not essential for cleavage by PLAT</li><li>R->A at 234: Not essential for cleavage by PLAT</li></ul>								<li>P00750</li><li>Q28198</li>			1
Q9NRA8	56478	<ul><li>Y->A at 30: Abolishes interaction with EIF4E</li><li>RR->NS at 195-196: Abolishes the nuclear localization</li></ul>		localization	GO:0051179					<li>Q9P974</li><li>P63074</li><li>Q9P975</li><li>Q9N0T5</li><li>P29338</li><li>P48598</li><li>Q75AV8</li><li>P06730</li><li>P48597</li><li>O77210</li><li>P07260</li><li>Q5UQG4</li><li>P63073</li><li>Q9PW28</li>			1
Q9NRD5	9463	<ul><li>KD->AA at 27-28: Abolishes interaction with other proteins, but not with itself</li></ul>											1
Q9NRF2	25970	<ul><li>F->R at 29: Abolishes self-association and interaction with INSR and IGF1R</li><li>A->D at 34: Abolishes self-association and interaction with INSR and IGF1R</li><li>A->D at 38: Abolishes self-association and interaction with INSR and IGF1R</li><li>F->A at 41: Abolishes self-association and interaction with INSR and IGF1R</li><li>A->D at 42: Abolishes self-association and interaction with INSR and IGF1R</li><li>Y->A at 48: Abolishes self-association and interaction with INSR and IGF1R</li><li>F->A at 68: Abolishes self-association and interaction with INSR and IGF1R</li><li>F->A at 72: Abolishes self-association and interaction with INSR and IGF1R</li><li>R->A at 555: Abolishes self-association and interaction with INSR and IGF1R</li></ul>	<li>A->T at 484: in dbSNP:rs7498665</li><li>V->A at 541: in dbSNP:rs17850682</li>							<li>P08069</li><li>Q28516</li><li>P06213</li><li>Q29000</li><li>Q05688</li>		<li>rs17850682</li><li>rs7498665</li>	3
Q9NRH2	54861	<ul><li>T->A,E at 173: Prevents phosphorylation and activation by STK11 complex</li></ul>	<li>L->S at 260: in dbSNP rsrs35624204</li><li>P->S at 391: in dbSNP rsrs56104180</li><li>G->S at 611: in an ovarian mucinous carcinoma sample; somatic mutation</li><li>P->L at 748: in an ovarian serous carcinoma sample; somatic mutation</li><li>I->M at 765: in a breast pleomorphic lobular carcinoma sample; somatic mutation</li>	phosphorylation	GO:0016310					<li>Q15831</li><li>Q0GGW5</li>		<li>rs56104180</li><li>rs35624204</li>	3
Q9NRI5	27185	<ul><li>L->P at 815: Impairs interaction with NDEL1; when associated with P-822</li><li>L->P at 822: Impairs interaction with NDEL1; when associated with P-815</li></ul>	<li>G->V at 5: in dbSNP:rs3738400</li><li>R->Q at 264: in dbSNP:rs3738401</li><li>L->F at 330: in dbSNP:rs34622148</li><li>L->F at 607: associated with susceptibility to schizoaffective disorder; dbSNP:rs6675281</li><li>S->C at 704: in dbSNP:rs821616</li>							<li>O46480</li><li>Q4R4S6</li><li>Q5ZKH4</li><li>Q9GZM8</li><li>Q5R8T7</li>		<li>rs3738400</li><li>rs3738401</li><li>rs6675281</li><li>rs821616</li><li>rs34622148</li>	3
Q9NRM7	26524	<ul><li>S->C at 83: Fails to localize at the centromere during interphase</li><li>S->E at 83: Fails to localize at the centromere during interphase</li><li>K->A at 697: Loss of kinase activity, autophosphorylation and tumor suppressor activity</li><li>S->A at 872: Loss of tumor suppressor activity</li></ul>	<li>G->E at 40: in a lung adenocarcinoma sample; somatic mutation</li><li>S->L at 91: in dbSNP:rs55842804</li><li>A->V at 324: in dbSNP:rs558614</li><li>G->S at 363: in dbSNP:rs2770928</li><li>I->V at 799: in dbSNP:rs35368391</li><li>A->G at 1014: in dbSNP:rs45523141</li><li>L->P at 1025: in dbSNP:rs56116059</li>	<li>autophosphorylation</li><li>interphase</li>	<li>GO:0046777</li><li>GO:0051325</li>	kinase activity	GO:0016301					<li>rs45523141</li><li>rs35368391</li><li>rs558614</li><li>rs55842804</li><li>rs56116059</li><li>rs2770928</li>	3
Q9NRP7	27148	<ul><li>K->R at 33: No effect on nuclear localization of GLI1 or GLI2 or on GLI-mediated transcription</li></ul>	<li>I->M at 90: in dbSNP rsrs55706732</li><li>R->W at 240: in dbSNP rsrs35038757</li><li>K->R at 295: in dbSNP rsrs1863703</li><li>D->N at 329: in dbSNP rsrs34027859</li><li>L->V at 462: in dbSNP rsrs45586733</li><li>K->N at 463: in dbSNP:rs17856747</li><li>F->S at 476: in dbSNP rsrs34128793</li><li>R->W at 477: in dbSNP rsrs16859180</li><li>R->Q at 583: in dbSNP rsrs1344642</li><li>S->C at 660: in a breast pleomorphic lobular carcinoma sample; somatic mutation</li><li>L->P at 672: in dbSNP rsrs35448374</li><li>S->T at 767: in dbSNP:rs17856748</li><li>S->Y at 767: in an ovarian papillary serous adenocarcinoma sample; somatic mutation</li><li>T->A at 816: in dbSNP rsrs34271431</li><li>R->Q at 839: in dbSNP rsrs13023540</li><li>L->V at 840: in dbSNP rsrs36099639</li><li>G->D at 1003: in dbSNP:rs1863704</li><li>Y->C at 1111: in dbSNP rsrs56278660</li><li>R->Q at 1112: in dbSNP rsrs12993599</li><li>Q->K at 1138: in an ovarian serous carcinoma sample; somatic mutation</li><li>P->S at 1185: in an ovarian endometrioid sample; somatic mutation</li><li>H->P at 1313</li>	<li>localization</li><li>transcription</li>	<li>GO:0051179</li><li>GO:0006350</li>					<li>P10070</li><li>P55878</li><li>P08151</li>		<li>rs36099639</li><li>rs12993599</li><li>rs45586733</li><li>rs35038757</li><li>rs34027859</li><li>rs56278660</li><li>rs1863703</li><li>rs35448374</li><li>rs1344642</li><li>rs1863704</li><li>rs13023540</li><li>rs34271431</li><li>rs17856748</li><li>rs17856747</li><li>rs55706732</li><li>rs34128793</li><li>rs16859180</li>	3
Q9NRR8	56882	<ul><li>CC->AA at 10-11: Prevents targeting to the activated TCR</li><li>P->A at 33: Abolishes interaction with CDC42, induces a decrease in blocking CDC42-induced JNK activation but does not affect targeting to the activated TCR; when associated with A-38 and A-41</li><li>H->A at 38: Abolishes interaction with CDC42, induces a decrease in blocking CDC42-induced JNK activation but does not affect targeting to the activated TCR; when associated with A-33 and A-41</li><li>H->A at 41: Abolishes interaction with CDC42, induces a decrease in blocking CDC42-induced JNK activation but does not affect targeting to the activated TCR; when associated with A-33 and A-38</li><li>Q->A at 62: Abolishes interaction with CDC42 and induces a decrease in blocking CDC42-induced JNK activation; when associated with A-66</li><li>K->A at 66: Abolishes interaction with CDC42 and induces a decrease in blocking CDC42-induced JNK activation; when associated with A-62</li></ul>						TCR	GO:0042101	<li>O94103</li><li>Q90694</li><li>O14426</li><li>Q966Y3</li><li>P60953</li><li>P60952</li><li>Q17031</li><li>P92208</li><li>Q9HF56</li><li>P19073</li>			1
Q9NS18	51022	<ul><li>C->S at 68: Abolishes absorption at 320 nm and 420 nm suggesting the loss of 2Fe-2S-binding</li><li>S->P at 78: Specifically increases the specific activity but decreases affinity for glutathionylated substrates</li><li>C->S at 80: Strongly impairs enzymatic activity</li><li>C->S at 153: Abolishes absorption at 320 nm and 420 nm suggesting the loss of 2Fe-2S-binding</li></ul>	<li>K->E at 95: in dbSNP rsrs34237236</li>			binding	GO:0005488					rs34237236	3
Q9NS37	58487	<ul><li>D->A at 221: Significantly reduced binding to HCFC1</li><li>H->A at 222: Significantly reduced binding to HCFC1</li><li>Y->A at 224: Significantly reduced binding to HCFC1</li></ul>				binding	GO:0005488			<li>P51611</li><li>P51610</li>			1
Q9NS56	10210	<ul><li>K->R at 76: No effect on sumoylation</li><li>W->A at 131: Abrogates E3 ubiquitin-protein ligase activity</li><li>K->R at 301: No effect on sumoylation</li><li>K->R at 485: No effect on sumoylation</li><li>K->R at 560: Strongly reduces sumoylation</li><li>K->R at 921: No effect on sumoylation</li></ul>	<li>A->T at 154: in dbSNP:rs17855104</li><li>E->K at 517: in dbSNP:rs17855103</li><li>N->D at 749: in dbSNP:rs17857515</li><li>P->R at 812: in dbSNP:rs36034138</li>	sumoylation	GO:0016925					<li>Q8RSY1</li><li>Q2QCI9</li>		<li>rs17857515</li><li>rs36034138</li><li>rs17855103</li><li>rs17855104</li>	3
Q9NSA0	55867	<ul><li>N->Q at 39: No visible effect on N-glycosylation. Loss of N-glycosylation and of cell surface location; when associated with Q-56; Q-63 and Q-99</li><li>H->A at 47: Reduced cell surface expression and estrone sulfate transport. Reduced cell surface expression and estrone sulfate transport; when associated with A-52; A-83; A-305 and A-469</li><li>H->A at 52: Slightly reduced estrone sulfate transport. Reduced cell surface expression and estrone sulfate transport; when associated with A-47; A-83; A-305 and A-469</li><li>N->Q at 56: No visible effect on N-glycosylation. Loss of N-glycosylation and of cell surface expression; when associated with Q-39; Q-63 and Q-99</li><li>N->Q at 63: No visible effect on N-glycosylation. Loss of N-glycosylation and of cell surface expression; when associated with Q-39; Q-56 and Q-99</li><li>H->A at 83: Reduced cell surface expression and estrone sulfate transport; when associated with A-47; A-52; A-305 and A-469</li><li>N->Q at 99: No visible effect on N-glycosylation. Loss of N-glycosylation and of cell surface expression; when associated with Q-39; Q-56 and Q-63</li><li>G->L,S,V at 241: Strongly reduced cell surface expression and estrone sulfate transport</li><li>H->A at 305: Reduced cell surface expression and estrone sulfate transport; when associated with A-47; A-52; A-83 and A-469</li><li>G->L,S,V at 400: Strongly reduced cell surface expression and estrone sulfate transport</li><li>H->A at 469: Slightly reduced estrone sulfate transport. Reduced cell surface expression and estrone sulfate transport; when associated with A-47; A-52; A-83 and A-305</li></ul>	<li>V->G at 155: in dbSNP:rs12785832</li>	sulfate transport	GO:0008272			cell surface	GO:0009928,GO:0009986			rs12785832	3
Q9NT62	64422	<ul><li>C->S at 264: Instead of the formation of an intermediate complex with a thiol ester bond between ATG3 (E2-like enzyme) and GABARAPL1/APG8L (substrate), a stable complex with an O-ester bond is formed</li></ul>				E2	GO:0004840			<li>Q5ABQ7</li><li>Q755K1</li><li>Q5RF21</li><li>P40344</li><li>Q6CL19</li><li>Q51LD2</li><li>P60518</li><li>Q9H0R8</li><li>Q9NT62</li><li>Q8HYB6</li><li>Q5K9X6</li><li>Q6C4Q9</li><li>Q6BSC4</li><li>Q6FQJ2</li>			1
Q9NTG7	23410	<ul><li>R->G,Q at 7: Suppresses targeting to mitochondrion; when associated with G-13 or Q-13</li><li>R->G,Q at 13: Suppresses targeting to mitochondrion; when associated with G-7 or Q-7</li><li>R->G,Q at 17: Reduces targeting to mitochondrion; when associated with G-21 or Q-21</li><li>R->G,Q at 21: Reduces targeting to mitochondrion; when associated with G-17 or Q-17</li><li>RR->GG at 99-100: Abolishes processing by MPP (in vitro)</li><li>N->A at 229: Loss of function</li><li>H->Y at 248: Loss of function</li></ul>	<li>R->W at 80: in dbSNP:rs28365927</li><li>V->I at 208: in dbSNP:rs11246020</li><li>G->S at 369: in dbSNP:rs3020901</li>					mitochondrion	GO:0005739	<li>Q6WEB5</li><li>P10522</li><li>P37301</li><li>P06907</li><li>P27573</li><li>P29677</li><li>P20938</li><li>P25189</li>		<li>rs11246020</li><li>rs3020901</li><li>rs28365927</li>	3
Q9NTK5	29789	<ul><li>F->A at 127: Loss of ATP-binding</li><li>N->A at 230: Loss of ATP-binding</li><li>LSE->KSD at 231-233: Retention of ATP-binding specificity</li></ul>	<li>E->Q at 168: in a breast cancer sample; somatic mutation</li>			ATP-binding	GO:0005524						3
Q9NUD9	55650	<ul><li>W->L at 66: Loss of function</li><li>D->A at 67: Loss of function</li><li>PP->TA at 293-294: N-glycosylated due to the creation of an acceptor site for N-glycosylation</li><li>Q->A at 308: Induces a reduces enzyme activity</li><li>W->L at 312: Loss of function</li></ul>											1
Q9NUT2	11194	<ul><li>GK->AR at 512-513: Renders the protein instable</li></ul>	<li>V->I at 152</li><li>I->T at 165: in a breast cancer sample; somatic mutation</li><li>A->G at 690: in a breast cancer sample; somatic mutation</li>										3
Q9NUW8	55775	<ul><li>H->A at 263: Loss of activity</li><li>K->A at 265: Abolishes hydrolysis of the covalent intermediate between the active site nucleophile and DNA</li><li>K->S at 265: Reduces the activity to nearly undetectable levels</li><li>N->A at 283: No effect</li><li>Q->A at 294: Slightly reduced hydrolysis of the covalent intermediate between the active site nucleophile and DNA</li><li>H->A at 493: 3000-fold reduction in activity; abolishes hydrolysis of the covalent intermediate between the active site nucleophile and DNA</li><li>H->N at 493: 15000-fold reduction in activity</li><li>K->A at 495: Abolishes hydrolysis of the covalent intermediate between the active site nucleophile and DNA</li><li>K->S at 495: 125-fold reduction in activity</li><li>N->A at 516: Reduced hydrolysis of the covalent intermediate between the active site nucleophile and DNA</li><li>E->A at 538: Abolishes hydrolysis of the covalent intermediate between the active site nucleophile and DNA</li></ul>	<li>E->D at 95: in dbSNP rsrs35114462</li><li>P->L at 101: in dbSNP:rs35455108</li><li>A->T at 134: in dbSNP:rs28365054</li><li>D->G at 187: in dbSNP rsrs35271143</li><li>R->Q at 304: in dbSNP:rs34452707</li><li>H->R at 493: in SCAN1; reduces enzyme activity and leads to the accumulation of covalent complexes between TDP1 and DNA, MIM: 607250</li><ul><li>H->A at 493: 3000-fold reduction in activity; abolishes hydrolysis of the covalent intermediate between the active site nucleophile and DNA</li><li>H->N at 493: 15000-fold reduction in activity</li></ul><li>P->L at 566: in autosomal recessive or sporadic spinocerebellar ataxia affected Japanese individuals, MIM: 607250</li></ul><li>T->A at 569: in dbSNP:rs35973343, MIM: 607250</li></ul>							<li>Q8K4Y7</li><li>Q9NUW8</li><li>Q8WVQ1</li><li>P38319</li><li>Q8VCF1</li>	Spinocerebellar ataxia autosomal recessive with axonal neuropathy (SCAN1) [MIM:607250]	<li>rs34452707</li><li>rs35455108</li><li>rs35114462</li><li>rs35973343</li><li>rs35271143</li><li>rs28365054</li>	4
Q9NV58	25897	<ul><li>C->S at 132: Abolishes interaction with VCP and E3 ligase activity toward mutant SOD1; when associated with S-135</li><li>C->S at 135: Abolishes interaction with VCP and E3 ligase activity toward mutant SOD1; when associated with S-132</li></ul>	<li>Q->H at 835: in dbSNP:rs9642785</li>			ligase activity	GO:0016874			<li>P00445</li><li>Q9SQL5</li><li>P00443</li><li>P00442</li><li>Q01853</li><li>P00441</li><li>Q8HXQ1</li><li>Q8HXQ0</li><li>Q8HXQ3</li><li>Q8HXQ2</li><li>Q8HXQ4</li><li>Q711T9</li><li>Q8HXP9</li><li>Q5FB29</li><li>Q751L8</li><li>P33431</li><li>P80566</li><li>Q96VL0</li><li>P55072</li><li>Q6CPE2</li><li>P09670</li><li>Q8HXP8</li><li>P42660</li><li>Q8J0N3</li><li>Q6T3B0</li><li>Q8J0N2</li><li>P60052</li><li>Q52RN5</li><li>P54774</li><li>O46412</li><li>Q9C0N4</li><li>Q6FWL5</li><li>O42724</li><li>Q7M1R5</li><li>P68638</li><li>Q8WNN6</li><li>P09212</li><li>P03974</li><li>P68639</li><li>P04178</li><li>P93258</li><li>Q42684</li><li>O94178</li><li>Q6C662</li><li>O59924</li><li>P46462</li>		rs9642785	3
Q9NVJ2	55207	<ul><li>L->A at 2: Diffuse cytoplasmic distribution and loss of localization to lysosomes. No effect on acetylation</li><li>L->F at 2: No effect on localization and acetylation</li><li>ISRLLDWF->ASRAL at 5-12: Diffuse cytoplasmic distribution and loss of localization to lysosomes. No effect on acetylation</li><li>T->N at 34: Preferentially binds GDP. Alters chromosome segregation</li><li>Missing at 49-58: Alters chromosome segregation</li><li>W->R at 70: Preferentially binds GTP</li><li>Missing at 74-85: Alters chromosome segregation</li><li>Q->L at 75: Prevents GTP hydrolysis. No effect on localization. Alters lysosomes cellular distribution and motility</li><li>N->I at 130: Loss of GTP/GDP-binding. Affects chromosome segregation</li></ul>		<li>GTP hydrolysis</li><li>chromosome segregation</li><li>localization</li>	<li>GO:0006184</li><li>GO:0007059</li><li>GO:0051179</li>	GDP-binding	GO:0019003	lysosomes	GO:0005764				1
Q9NVN8	54552	<ul><li>KK->AA at 9-10: Loss of nucleolar localization; when associated with 34-A-A-35. Loss of nuclear location; when associated with 19-A-A-20</li><li>KK->AA at 19-20: Loss of nuclear location; when associated with 9-A-A-10. Loss of nuclear location; when associated with 34-A-A-35</li><li>KK->AA at 34-35: Loss of nucleolar localization; when associated with 9-A-A-10. Loss of nuclear location; when associated with 19-A-A-20</li><li>RDP->AAA at 145-147: Loss of GTP binding. Loss of nucleolar localization. No effect on nuclear localization</li><li>PG->AA at 309-310: Loss of nucleolar localization. No effect on nuclear localization</li></ul>	<li>R->H at 320: in dbSNP:rs2298284</li>	localization	GO:0051179	GTP binding	GO:0005525					rs2298284	3
Q9NW38	55120	<ul><li>C->A at 307: Abolishes ubiquitin ligase activity</li><li>C->A at 310: Abolishes ubiquitin ligase activity</li></ul>	<li>S->F at 144: in dbSNP:rs36059257</li>			ligase activity	GO:0016874			<li>P69326</li><li>P08565</li><li>P69322</li><li>P69323</li><li>P69324</li><li>P69325</li><li>P68196</li><li>O46543</li><li>P68197</li><li>Q05550</li><li>P68198</li><li>P68199</li><li>P19848</li><li>P68195</li><li>P42739</li><li>Q867C2</li><li>P62991</li><li>P62990</li><li>P61863</li><li>P61864</li><li>P61862</li><li>Q867C4</li><li>Q867C3</li><li>P23398</li><li>P68204</li><li>P84589</li><li>Q865C5</li><li>P42740</li><li>P68201</li><li>Q8MKD1</li><li>P14792</li><li>P63049</li><li>P0C072</li><li>P63051</li><li>P69308</li><li>P69309</li><li>P20685</li><li>P15174</li><li>P62976</li><li>P62977</li><li>P62974</li><li>P62975</li><li>P62972</li><li>P13117</li><li>P14624</li><li>P62973</li><li>P46574</li><li>P69310</li><li>P69313</li><li>P69314</li><li>P69311</li><li>P69312</li><li>P08618</li><li>P69317</li><li>P69318</li><li>P0C014</li><li>P69315</li><li>P69316</li><li>P59263</li><li>P69319</li><li>P49634</li><li>P49635</li><li>P22589</li><li>Q9Y848</li><li>P62988</li><li>P62989</li><li>P23324</li><li>P69321</li><li>P69320</li><li>P59669</li>		rs36059257	3
Q9NWB1	54715	<ul><li>H->A at 120: Reduces RNA-binding affinity 160-fold</li><li>F->A,I,R at 126: Reduces RNA-binding affinity 1500-fold</li><li>F->H,W at 126: Reduces RNA-binding affinity 15-fold</li><li>F->Y at 126: No effect on RNA-binding</li><li>F->A at 158: Reduces RNA-binding affinity 700-fold</li><li>F->A at 160: Reduces RNA-binding affinity 30'000-fold</li></ul>				RNA-binding	GO:0003723						1
Q9NWB7	55081	<ul><li>K->D at 409: Impairs the interaction with HIP1</li></ul>								<li>O00291</li><li>P06775</li>			1
Q9NWM0	54498	<ul><li>C->R at 320: No change in enzymatic activity</li></ul>	<li>Q->K at 340: in a breast cancer sample; somatic mutation</li><li>H->Y at 522</li>										3
Q9NWQ8	55824	<ul><li>Y->F at 105: No effect on interaction with FYN or CSK</li><li>Y->F at 163: No effect on interaction with FYN or CSK</li><li>Y->F at 181: No effect on interaction with FYN or CSK</li><li>Y->F at 227: No effect on interaction with FYN or CSK</li><li>Y->F at 299: No effect on interaction with FYN or CSK</li><li>Y->F at 317: No effect on interaction with FYN. Abolishes interaction with CSK</li><li>Y->F at 341: No effect on interaction with FYN or CSK</li><li>Y->F at 359: No effect on interaction with FYN or CSK</li><li>Y->F at 387: No effect on interaction with FYN or CSK</li><li>Y->F at 417: No effect on interaction with FYN or CSK</li></ul>								<li>Q05876</li><li>P41239</li><li>Q0VBZ0</li><li>P06241</li><li>P41240</li><li>P27446</li>			1
Q9NWT6	55662	<ul><li>H->A at 199: Prevents suppression of HIF CAD activity</li><li>D->A at 201: Prevents suppression of HIF CAD activity</li></ul>	<li>P->A at 41: in dbSNP:rs2295778</li>									rs2295778	3
Q9NWW0	54985	<ul><li>DHPY->AAPA at 76-79: Loss of interaction with HCFC1</li><li>LRL->ARA at 117-119: Reduces nuclear export</li></ul>	<li>P->Q at 92: in dbSNP:rs10508</li>	nuclear export	GO:0051168					<li>P51611</li><li>P51610</li>		rs10508	3
Q9NWW6	54981	<ul><li>K->A at 16: Loss of activity</li><li>D->A at 36: Loss of activity</li><li>D->A at 56: Loss of activity</li><li>E->A at 98: Loss of activity</li><li>D->A at 138: Almost no effect</li></ul>											1
Q9NWZ3	51135	<ul><li>K->A at 213: Loss of kinase activity</li></ul>	<li>I->V at 5: in dbSNP rsrs56312115</li><li>S->R at 98: in dbSNP:rs4251469</li><li>M->V at 355</li><li>H->R at 390: in dbSNP:rs4251583</li><li>R->H at 391: in dbSNP rsrs55944915</li><li>A->T at 428: in dbSNP:rs4251545</li>			kinase activity	GO:0016301					<li>rs55944915</li><li>rs4251469</li><li>rs4251583</li><li>rs4251545</li><li>rs56312115</li>	3
Q9NX46	54936	<ul><li>E->A,Q at 41: Significant loss of activity</li><li>DD->NN at 77-78: Complete loss of activity</li><li>D->N at 77: Complete loss of activity</li><li>S->A at 148: Complete loss of activity</li><li>Y->A at 149: Significant loss of activity</li><li>N->A at 151: Partial loss of activity</li><li>H->Q at 182: Complete loss of activity</li><li>EE->QQ at 238-239: Slight reduction in activity</li><li>EE->QQ at 261-262: Slight reduction in activity</li><li>D->E at 314: Complete loss of activity</li><li>D->N at 314: Significant loss of activity</li><li>T->A at 317: Complete loss of activity</li><li>T->S at 317: Partial loss of activity</li></ul>	<li>E->K at 209: in dbSNP:rs2236387</li>									rs2236387	3
Q9NX52	54933	<ul><li>W->A at 121: Reduces protease activity</li><li>R->A at 122: Abolishes protease activity</li><li>N->A at 139: Reduces protease activity</li><li>G->A at 185: Abolishes protease activity</li><li>S->A,G at 187: Abolishes protease activity</li><li>H->A at 250: Abolishes protease activity</li></ul>	<li>L->M at 273: in dbSNP:rs2147914</li>							<li>P19028</li><li>P24107</li><li>Q9QBZ5</li><li>Q9QBZ1</li><li>P15833</li><li>Q79666</li><li>P18042</li><li>P03362</li><li>P04024</li><li>P03363</li><li>Q8AII1</li><li>P04023</li><li>P10978</li><li>O93215</li><li>P26810</li><li>Q1A249</li><li>P03356</li><li>P03355</li><li>O41798</li><li>P20892</li><li>Q9Y6I0</li><li>P10210</li><li>Q9QBY3</li><li>P03353</li><li>P16901</li><li>Q74120</li><li>Q09SZ9</li><li>Q89928</li><li>Q73368</li><li>P84454</li><li>Q9WC63</li><li>P20825</li><li>Q9IDV9</li><li>P0C211</li><li>P51518</li><li>P0C210</li><li>Q4U0X6</li><li>P12451</li><li>P07570</li><li>P28936</li><li>O89940</li><li>P24740</li><li>P26809</li><li>P26808</li><li>Q0R5R3</li><li>Q0R5R2</li><li>P18802</li><li>P19561</li><li>P10394</li><li>P16423</li><li>P63119</li><li>P19560</li><li>Q75002</li><li>P04589</li><li>P04587</li><li>P04588</li><li>Q9QSR3</li><li>O91080</li><li>P16046</li><li>P17757</li><li>P12497</li><li>P12499</li><li>P12498</li><li>P03311</li><li>P20875</li><li>P20876</li><li>P10273</li><li>Q9WC54</li><li>P10272</li><li>P10271</li><li>P10270</li><li>P19199</li><li>P05962</li><li>P18096</li><li>P10265</li><li>P04584</li><li>P11227</li><li>P04585</li><li>Q76634</li><li>Q8I7P9</li><li>Q9Q720</li><li>P14078</li><li>P31822</li><li>P11365</li><li>P35963</li><li>P14074</li><li>P05959</li><li>P63131</li><li>P04323</li><li>P10274</li><li>P21407</li><li>O89290</li><li>P35956</li><li>P05960</li><li>P05961</li><li>Q1A267</li><li>P63122</li><li>P63123</li><li>P63124</li><li>P63125</li><li>P63120</li><li>P63121</li><li>P03366</li><li>P03367</li><li>P03369</li><li>P63127</li><li>P63128</li><li>P63129</li><li>P03370</li><li>Q77373</li><li>P27502</li><li>P21414</li>		rs2147914	3
Q9NXH3	54866	<ul><li>KK->EE at 21-22: Reduces inhibitory activity by 57%</li><li>W->A at 25: Reduces inhibitory activity by 13%</li><li>T->E at 58: Reduces inhibitory activity by 16%. Reduces phosphorylation</li></ul>		phosphorylation	GO:0016310								1
Q9NY25	23601	<ul><li>K->I at 16: Abolishes interaction with TYROBP</li></ul>	<li>R->H at 141: in dbSNP:rs35942193</li>							<li>Q95J79</li><li>Q9TU45</li><li>Q8WNQ8</li><li>O43914</li>		rs35942193	3
Q9NY37	51802	<ul><li>A->C at 443: Slightly activates the channel</li><li>A->F,T at 443: Activates the channel</li></ul>											1
Q9NY46	6328	<ul><li>Y->A at 1970: Abolishes interaction with NEDD4L</li></ul>	<li>Missing at 43</li><li>S->T at 606</li><li>V->A at 1107: in dbSNP:rs12474273</li><li>L->S at 1813</li>							<li>Q5RBF2</li><li>Q96PU5</li>		rs12474273	3
Q9NYG5	100131844	<ul><li>C->S at 23: Greatly reduces autoubiquitination activity; in isoform 1</li><li>C->S at 26: Greatly reduces autoubiquitination activity; in isoform 1</li><li>C->S at 34: Slightly reduces autoubiquitination activity; in isoform 1</li><li>C->S at 37: Slightly reduces autoubiquitination activity; in isoform 1</li><li>C->S at 44: Slightly reduces autoubiquitination activity; in isoform 1</li><li>C->S at 51: Greatly reduces autoubiquitination activity; in isoform 1</li><li>H->S at 53: Greatly reduces autoubiquitination activity; in isoform 1</li><li>H->S at 56: Greatly reduces autoubiquitination activity; in isoform 1</li><li>H->S at 58: Slightly reduces autoubiquitination activity; in isoform 1</li><li>C->S at 59: Greatly reduces autoubiquitination activity; in isoform 1</li><li>C->S at 73: Greatly reduces autoubiquitination activity; in isoform 1</li><li>C->S at 76: Greatly reduces autoubiquitination activity; in isoform 1</li></ul>											1
Q9NYL2	51776	<ul><li>K->M at 45: Loss of kinase activity</li><li>T->A at 161: Loss of autophosphorylation activity</li><li>T->A at 162: Slight loss of autophosphorylation activity</li><li>S->A at 165: Loss of autophosphorylation activity</li></ul>	<li>T->M at 267: in dbSNP rsrs6758025</li><li>A->T at 281: in an ovarian endometrioid sample; somatic mutation</li><li>A->V at 281: in dbSNP rsrs34683477</li><li>L->S at 531: in dbSNP:rs3769148</li><li>R->W at 580: in dbSNP rsrs7593622</li><li>P->T at 740: in dbSNP rsrs56202258</li><li>Y->H at 773: in dbSNP rsrs35608243</li><li>K->T at 784: in dbSNP rsrs55830025</li>	autophosphorylation	GO:0046777	kinase activity	GO:0016301					<li>rs35608243</li><li>rs3769148</li><li>rs6758025</li><li>rs55830025</li><li>rs7593622</li><li>rs56202258</li><li>rs34683477</li>	3
Q9NYP9	54069	<ul><li>C->A at 85: Abolishes location at the centromere</li><li>C->A at 88: Abolishes location at the centromere</li><li>C->A at 134: No effect</li><li>C->A at 141: Abolishes location at the centromere</li><li>C->A at 144: Abolishes location at the centromere</li></ul>											1
Q9NYS0	28512	<ul><li>T->A at 38: Loss of function</li></ul>											1
Q9NYU2	56886	<ul><li>Missing at 1452-1457: Inactive</li><li>D->A at 1452: Inactive</li><li>Q->A at 1453: 4% active</li><li>D->A at 1454: Inactive</li><li>L->A at 1455: 2% active</li><li>P->A at 1456: 41% active</li><li>N->A at 1457: 7% active</li></ul>											1
Q9NZ20	50487	<ul><li>N->S at 167: Loss of glycosylation</li><li>H->Q at 184: Loss of PGE2 synthesis</li><li>N->S at 280: Loss of glycosylation</li></ul>	<li>A->S at 70: in dbSNP:rs2232176</li><li>E->Q at 116: in dbSNP:rs2074734</li><li>L->V at 157: in dbSNP:rs2074735</li><li>S->R at 322: in dbSNP:rs2072193</li><li>R->Q at 378: in dbSNP:rs2232183</li>									<li>rs2072193</li><li>rs2232176</li><li>rs2232183</li><li>rs2074735</li><li>rs2074734</li>	3
Q9NZ42	55851	<ul><li>E->S at 10: Induces a N-linked glycosylation on N-8</li><li>A->N at 46: No effect</li><li>S->N at 93: Induces a N-linked glycosylation</li></ul>		N-linked glycosylation	GO:0006487								1
Q9NZ45	55847	<ul><li>C->S at 72: Abolishes absorption in the 300-500 nm range</li><li>C->S at 74: Abolishes absorption in the 300-500 nm range</li><li>C->S at 83: Abolishes absorption in the 300-500 nm range</li><li>D->N at 84: Does not affect absorption in the 300-500 nm range</li><li>H->C at 87: Affects absorption in the 300-500 nm range but it is not reduced. Increased stability of the 2Fe-2S cluster at low pH</li><li>H->Q at 87: Abolishes absorption in the 300-500 nm range</li></ul>											1
Q9NZ52	23163	<ul><li>N->A at 194: Loss of interaction with ARF1 and Golgi localization</li><li>S->P at 199: Loss of interaction with ARF1 and Golgi localization</li><li>T->P at 217: Loss of interaction with ARF1 and Golgi localization</li><li>L->P at 247: Loss of UBC-binding and ubiquitination</li><li>K->M at 258: No effect. Confers an affinity to RABEP1 identical to GGA1; when associated with N-283</li><li>L->S at 262: Loss of UBC-binding and ubiquitination</li><li>L->A at 276: Loss of UBC-binding and ubiquitination</li><li>L->S at 276: Loss of UBC-binding and ubiquitination</li><li>L->R at 280: Loss of UBC-binding and ubiquitination</li><li>S->N at 283: Can bind RABEP1. Confers an affinity to RABEP1 identical to GGA1; when associated with M-258</li><li>D->G at 284: Loss of UBC-binding and ubiquitination</li><li>Y->H at 293: Loss of UBC-binding and ubiquitination</li><li>DEELL->AAAAA at 391-395: Increased binding to IGF2R</li></ul>	<li>P->L at 574: in a breast cancer sample; somatic mutation</li>	localization	GO:0051179	binding	GO:0005488			<li>Q8L7G0</li><li>P84080</li><li>P22274</li><li>P11076</li><li>Q06336</li><li>O23778</li><li>Q867C2</li><li>Q5UQC9</li><li>Q75A26</li><li>P61209</li><li>P84077</li><li>Q867C4</li><li>Q4R5P2</li><li>Q867C3</li><li>P36397</li><li>Q15276</li><li>P27949</li><li>Q9UJY5</li><li>Q94650</li><li>P11717</li><li>P25869</li><li>P49076</li><li>P61210</li><li>O48649</li><li>P62988</li><li>P08169</li><li>Q96361</li><li>P51821</li><li>Q25761</li><li>P51822</li>			3
Q9NZ53	50512	<ul><li>Y->F at 97: Remains sulfated. Not sulfated and reduced rolling of Jurkat T-cells by more than 50%; when associated with F-118. The rolling of Jurkat T-cells is reduced by more than 80%; when associated with F-118 and A-124</li><li>Y->F at 118: Remains sulfated. Not sulfated and reduced rolling of Jurkat T-cells by more than 50%; when associated with F-97. The rolling of Jurkat T-cells is reduced by more than 80%; when associated with F-97 and A-124</li><li>T->A at 124: Not sialylated O-linked</li></ul>	<li>V->A at 456: in dbSNP:rs34117815</li>									rs34117815	3
Q9NZC7	51741	<ul><li>K->T at 28: No effect on interaction with TP53. Abolishes interaction with MAPK8; when associated with V-29</li><li>D->V at 29: No effect on interaction with TP53. Abolishes interaction with MAPK8; when associated with T-28</li><li>Y->F at 33: Loss of phosphorylation</li><li>Y->R at 33: Abolishes interaction with TP53, TP73, MAPK8 and ERBB4. Partial loss of interaction with TFAP2C. Loss of phosphorylation. Loss of the proaptotic activity</li><li>WEHP->FEHA at 44-47: Abolishes interaction with LITAF</li><li>Y->R at 61: No effect on interaction with TP73</li><li>YLDP->ALDA at 85-88: No effect on interaction with LITAF</li></ul>	<li>P->L at 98</li><li>T->S at 111: in a Burkitt lymphoma cell line</li><li>R->W at 120: in a primary colorectal tumor and a histiocytic lymphoma cell line</li><li>A->T at 179: in dbSNP:rs12918952</li><li>L->V at 216: in dbSNP:rs7201683</li><li>L->F at 272</li><li>P->A at 282: in dbSNP:rs3764340</li><li>L->P at 291: in ESCC; somatic mutation, MIM: 133239</li><li>R->H at 314: in a cervical carcinoma cell line, MIM: 133239</li>	phosphorylation	GO:0016310					<li>Q9TUB2</li><li>Q8QGW7</li><li>Q9XSK8</li><li>P56423</li><li>P56424</li><li>O12946</li><li>Q15303</li><li>P25035</li><li>O36006</li><li>Q64662</li><li>O57538</li><li>P61260</li><li>P10360</li><li>Q9W679</li><li>Q9W678</li><li>P13481</li><li>Q9TTA1</li><li>Q95330</li><li>O93379</li><li>P41685</li><li>Q8SPZ3</li><li>P79820</li><li>Q92143</li><li>P04637</li><li>Q29537</li><li>Q29480</li><li>O09185</li><li>Q99732</li><li>Q00366</li><li>P79892</li><li>P51664</li><li>O15350</li><li>P67939</li><li>Q9WUR6</li><li>Q92754</li><li>P67938</li><li>P45983</li>	Esophageal squamous cell carcinoma (ESCC) [MIM:133239]	<li>rs7201683</li><li>rs12918952</li><li>rs3764340</li>	3
Q9NZD2	51228	<ul><li>I->N at 45: 18% decrease in activity</li><li>D->V at 48: Significant inactivation; 15% residual activity</li><li>N->I at 52: Significant inactivation; 15% residual activity</li><li>K->I at 55: No loss of activity; 90-97% residual activity</li><li>W->A at 96: Almost complete inactivation; 1-3% residual activity</li><li>W->F at 96: Partial inactivation; 63% residual activity</li><li>F->S at 103: About 25% decrease in activity</li><li>L->R at 136: Significant inactivation; 5% residual activity</li><li>H->L at 140: Almost complete inactivation; 1-3% residual activity</li><li>F->S at 148: About 50% decrease in activity</li><li>L->R at 165: 46% decrease in activity</li><li>F->S at 183: No loss of activity; 90% residual activity</li><li>Y->L at 207: No loss of activity; 90-97% residual activity</li></ul>											1
Q9NZD8	51324	<ul><li>S->A at 109: Abolishes interaction with CD4</li></ul>								<li>Q08339</li><li>P05542</li><li>Q29037</li><li>P01730</li><li>P79185</li><li>P16004</li><li>Q08340</li><li>P16003</li><li>P79184</li><li>P33705</li><li>Q9XS78</li><li>P46630</li><li>Q08338</li><li>Q08336</li>			1
Q9NZI8	10642	<ul><li>K->E at 213: Decreases RNA-binding affinity, decreases cytoplasmic granular formation and increases nuclear localization; when associated with E-294 and E-423</li><li>K->E at 294: Decreases RNA-binding affinity, decreases cytoplasmic granular formation and increases nuclear localization; when associated with E-213 and E-423</li><li>L->A at 318: Diminishes export activity</li><li>L->A at 320: Diminishes export activity</li><li>K->E at 423: Decreases RNA-binding affinity, decreases cytoplasmic granular formation and increases nuclear localization; when associated with E-294 and E-213</li><li>E->A at 485: Loss of export activity</li><li>V->A at 486: Loss of export activity</li><li>L->A at 488: Loss of export activity</li><li>I->A at 492: Loss of export activity</li><li>K->E at 505: Decreases RNA-binding affinity, loss of cytoplasmic granular formation, increases nuclear localization</li></ul>		localization	GO:0051179	RNA-binding	GO:0003723						1
Q9NZJ0	51514	<ul><li>R->A at 246: Blocks association with DDB1</li></ul>	<li>A->V at 436: in dbSNP:rs3135474</li><li>T->K at 694: in dbSNP:rs6540718</li>							<li>Q16531</li><li>Q6QNU4</li><li>Q6E7D1</li><li>P33194</li>		<li>rs6540718</li><li>rs3135474</li>	3
Q9NZM1	26509	<ul><li>NPF->SPL at 238-240: Reduces interaction with EHD2</li></ul>	<li>V->I at 1136: in dbSNP:rs36032890</li><li>Y->F at 1198: in dbSNP:rs12256834</li><li>R->C at 1399: in dbSNP:rs11187393</li><li>G->A at 1701: in dbSNP:rs34000599</li><li>R->Q at 1783: in dbSNP:rs11594445</li>							<li>Q08558</li><li>Q9NZN4</li><li>Q9NZN3</li>		<li>rs12256834</li><li>rs11594445</li><li>rs11187393</li><li>rs36032890</li><li>rs34000599</li>	3
Q9NZN9	23746	<ul><li>R->W at 53: No interaction with NUB1</li><li>M->T at 79: No interaction with NUB1</li><li>V->I at 96: No interaction with NUB1</li><li>A->P at 197: No significant effect on interaction with NUB1</li><li>I->N at 206: No significant effect on interaction with NUB1</li><li>G->S at 262: No interaction with NUB1</li><li>R->L at 302: No interaction with NUB1</li></ul>	<li>V->A at 33: in dbSNP:rs16955859</li><li>D->H at 90: in dbSNP:rs12449580</li><li>Y->F at 134: in dbSNP:rs16955851</li><li>C->R at 239: in LCA4; no significant effect on interaction with NUB1, MIM: 604393</li>							<li>Q8MJ87</li><li>P32860</li><li>Q9Y5A7</li>	Leber congenital amaurosis type 4 (LCA4) [MIM:604393]	<li>rs16955859</li><li>rs12449580</li><li>rs16955851</li>	3
Q9NZP8	51279	<ul><li>S->A at 436: Unable to cleave HP</li></ul>	<li>I->V at 285: in dbSNP:rs3742089</li>									rs3742089	3
Q9NZV8	3751	<ul><li>PTPP->ATAA at 601-604: Abolishes interaction with FLNC</li></ul>								Q14315			1
Q9P032	29078	<ul><li>K->A at 73: Reduces interaction with calmodulin. Does not promote MMP-9 secretion</li></ul>	<li>L->P at 65: in complex I deficiency</li>	secretion	GO:0046903					<li>Q40302</li><li>Q8STF0</li><li>P04353</li><li>P41040</li><li>P04352</li><li>P14780</li><li>P41245</li><li>P41246</li><li>O18733</li><li>Q9GRJ1</li><li>P61860</li><li>P02594</li><li>P02595</li><li>P61861</li><li>P48976</li><li>O82018</li><li>P50282</li><li>P62144</li><li>P62184</li><li>P93171</li><li>P62145</li><li>P07463</li><li>Q5RAD2</li><li>P24044</li><li>P11121</li><li>P62149</li><li>P06787</li><li>O02367</li><li>Q6IT78</li><li>P05935</li><li>P05933</li><li>O16305</li><li>Q6PI52</li><li>P05934</li><li>Q6YNX6</li><li>Q7Y052</li><li>Q95NR9</li><li>P11118</li><li>P62157</li><li>P62156</li><li>P21251</li><li>P62155</li><li>Q5EHV7</li><li>P62154</li><li>P62152</li><li>P62151</li><li>Q7T3T2</li><li>P69097</li><li>P60206</li><li>P69098</li><li>P60205</li><li>Q9HFY6</li><li>Q9U6D3</li><li>P60204</li><li>P62158</li><li>O96102</li><li>P18061</li><li>P62201</li><li>P11120</li><li>P93087</li><li>Q8X187</li><li>O60041</li><li>P62160</li><li>P62204</li><li>Q05055</li><li>P62203</li><li>P61859</li><li>P62202</li><li>P17928</li><li>P15094</li><li>Q95NI4</li><li>P02598</li><li>P62162</li><li>Q9UWF0</li><li>P02599</li><li>P62161</li><li>Q07842</li><li>Q71UH6</li><li>Q71UH5</li><li>P52176</li><li>O97341</li><li>P04464</li><li>P27165</li><li>Q39752</li><li>P27166</li><li>P84339</li><li>P23286</li><li>P27161</li><li>O94739</li><li>P41041</li><li>Q6R520</li>			3
Q9P0K1	53616	<ul><li>S->A at 834: Abolishes interactions with YWHAB and YWHAZ; when associated with A-857</li><li>S->A at 857: Abolishes interactions with YWHAB and YWHAZ; when associated with A-834</li></ul>	<li>P->R at 81: in dbSNP:rs2279542</li><li>H->Y at 119: in dbSNP:rs4728730</li><li>V->I at 207: in dbSNP:rs17255978</li>							<li>P63103</li><li>Q4R572</li><li>P29361</li><li>P68251</li><li>Q5ZKC9</li><li>P68250</li><li>Q5R651</li><li>Q5ZLQ6</li><li>P31946</li><li>P63104</li>		<li>rs4728730</li><li>rs17255978</li><li>rs2279542</li>	3
Q9P0L2	4139	<ul><li>T->A at 215: Prevents phosphorylation and activation by STK11 complex</li><li>T->E at 215: Constitutively active</li></ul>	<li>Y->C at 233: in a gastric adenocarcinoma sample; somatic mutation</li><li>N->T at 355: in an ovarian serous carcinoma sample; somatic mutation</li><li>V->M at 530: in dbSNP rsrs56212551</li><li>P->L at 578: in dbSNP rsrs55691439</li><li>R->G at 645: in dbSNP:rs12123778</li><li>E->G at 691: in dbSNP rsrs55688276</li>	phosphorylation	GO:0016310					<li>Q15831</li><li>Q0GGW5</li>		<li>rs12123778</li><li>rs56212551</li><li>rs55691439</li><li>rs55688276</li>	3
Q9P0R6	51527	<ul><li>L->P at 130: Loss of interaction with GSK3B</li></ul>								<li>Q5YJC2</li><li>P49841</li>			1
Q9P0U3	29843	<ul><li>D->A at 441: No effect on SUMO2 processing and SUMO2 deconjugating activities</li><li>W->A at 465: Impairs SUMO2 processing and SUMO2 deconjugating activities</li><li>D->A at 468: Slightly impairs SUMO2 processing activity. No effect on SUMO2 deconjugating activity</li><li>F->A at 496: Impairs SUMO2 processing activity. No effect on SUMO2 deconjugating activity</li><li>R->A at 511: Impairs SUMO2 processing activity. No effect on SUMO2 deconjugating activity</li><li>W->A at 512: Impairs SUMO2 processing and SUMO2 deconjugating activities</li><li>H->A at 529: Impairs SUMO2 processing activity. No effect on SUMO2 deconjugating activity</li><li>V->A at 532: No effect on SUMO2 processing and SUMO2 deconjugating activities</li><li>H->A at 533: Abolishes SUMO2 processing and SUMO2 deconjugating activities</li><li>W->A at 534: Abolishes SUMO2 processing and SUMO2 deconjugating activities</li><li>D->A at 550: Abolishes SUMO2 processing and SUMO2 deconjugating activities</li><li>Q->A at 597: Abolishes SUMO2 processing and SUMO2 deconjugating activities</li><li>C->A,S at 603: Abolishes SUMO2 processing and SUMO2 deconjugating activities</li><li>C->S at 603: Exclusively nuclear</li></ul>	<li>I->V at 193: in dbSNP:rs17854369</li><li>A->T at 280: in dbSNP:rs35130318</li><li>D->G at 350: in dbSNP:rs17854368</li>							<li>Q6LDZ8</li><li>P61958</li><li>P61956</li><li>P61955</li>		<li>rs17854369</li><li>rs17854368</li><li>rs35130318</li>	3
Q9P0U4	30827	<ul><li>C->A at 169: Complete loss of DNA binding activity. No effect on localization in nuclear speckles</li><li>C->A at 208: Complete loss of DNA binding activity. No effect on localization in nuclear speckles</li></ul>		localization	GO:0051179	DNA binding	GO:0003677	nuclear speckles	GO:0016607				1
Q9P0V3	23677	<ul><li>W->A at 92: Loss of function. Loss of targeting to the clathrin-coated pits and vesicles. Loss of interaction with DNM2. No effect on localization to the plasma membrane</li></ul>	<li>M->T at 155: in dbSNP:rs3731644</li><li>A->T at 197: in dbSNP:rs3731646</li>	localization	GO:0051179			<li>coated pits</li><li>plasma membrane</li>	<li>GO:0005905</li><li>GO:0005886</li>	P50570		<li>rs3731646</li><li>rs3731644</li>	3
Q9P0W2	10362	<ul><li>K->I at 116: Loss of DNA binding activity of the BHC histone deacetylase complex</li></ul>				DNA binding	GO:0003677			O22446			1
Q9P126	51266	<ul><li>K->A at 150: Substantial reduction in rhodocytin binding</li><li>K->A at 171: Significant reduction in rhodocytin binding</li><li>E->A at 184: Significant reduction in rhodocytin binding</li><li>E->A at 187: Significant reduction in rhodocytin binding</li><li>D->A at 188: Significant reduction in rhodocytin binding</li><li>K->A at 190: Significant reduction in rhodocytin binding</li><li>N->A at 192: Significant reduction in rhodocytin binding</li></ul>	<li>I->V at 20: in dbSNP:rs612593</li><li>S->P at 24: in dbSNP:rs2273986</li><li>S->F at 28: in dbSNP:rs2273987</li><li>G->D at 64: in dbSNP:rs583903</li>			binding	GO:0005488					<li>rs2273986</li><li>rs2273987</li><li>rs612593</li><li>rs583903</li>	3
Q9P212	51196	<ul><li>H->L at 1452: Loss of the phospholipase C enzymatic activity. Still activates HRAS and the MAP kinase pathway</li><li>Q->E at 2140: Increases 2.8-fold the affinity for HRAS</li><li>Q->E at 2148: Decreases 17.5-fold the affinity for HRAS</li><li>Q->K at 2148: Increases 1.4-fold the affinity for HRAS</li><li>R->L at 2150: Abolishes interaction with HRAS</li><li>K->L at 2171: No effect on HRAS-binding</li><li>Y->L at 2174: Reduces HRAS-binding</li></ul>	<li>S->T at 469: in dbSNP:rs17508082</li><li>R->L at 548: in dbSNP:rs17417407</li><li>S->L at 1484: in NPHS3; gives rise to focal segmental glomerulosclerosis rather than diffuse mesangial sclerosis, MIM: 610725</li><li>R->P at 1575: in dbSNP:rs2274224, MIM: 610725</li><li>T->I at 1777: in dbSNP:rs3765524, MIM: 610725</li><li>H->R at 1927: in dbSNP:rs2274223, MIM: 610725</li>			binding	GO:0005488			<li>Q60529</li><li>P01112</li>	Nephrotic syndrome type 3 (NPHS3) [MIM:610725]	<li>rs2274224</li><li>rs2274223</li><li>rs3765524</li><li>rs17417407</li><li>rs17508082</li>	3
Q9P246	57620	<ul><li>D->A at 80: No effect on inhibitory activity; when associated with A-91</li><li>E->A at 91: No effect on inhibitory activity; when associated with A-80</li></ul>											1
Q9UBD6	51458	<ul><li>F->L at 74: Reduction of ammonia transport</li><li>V->I at 137: Reduction of ammonia transport</li><li>D->N at 177: Loss of function</li><li>F->V at 235: Reduction of ammonia transport</li></ul>	<li>R->C at 202: in dbSNP:rs17807723</li>	transport	GO:0006810							rs17807723	3
Q9UBG0	9902	<ul><li>N->D at 472: Reduced sugar-binding activity</li><li>Y->A at 1452: No alteration of distribution and trafficking</li><li>E->A at 1464: Increased cell surface distribution</li><li>LV->AA at 1468-1469: Reduction of endocytotic activity; distribution almost restricted to the cell surface</li></ul>	<li>V->I at 43: in dbSNP:rs2014055</li><li>H->R at 1156: in dbSNP:rs2429387</li>			sugar-binding	GO:0005529	cell surface	GO:0009928,GO:0009986			<li>rs2014055</li><li>rs2429387</li>	3
Q9UBK5	10870	<ul><li>D->A at 57: Abolishes stable interaction with NKG2D</li></ul>								<li>P26718</li><li>P61252</li><li>Q9MZ37</li><li>Q9MZJ7</li>			1
Q9UBK9	8409	<ul><li>L->P at 50: Causes dislocation from the centrosome; when associated with L-59</li><li>L->P at 59: Causes dislocation from the centrosome; when associated with L-50</li></ul>						centrosome	GO:0005813				1
Q9UBN7	10013	<ul><li>H->A at 216: Reduces histone deacetylase activity</li><li>H->A at 611: Reduces histone deacetylase activity</li></ul>	<li>T->I at 994: in dbSNP:rs1127346</li>							O22446		rs1127346	3
Q9UBP5	23493	<ul><li>G->P at 54: Impairs transcriptional repression</li></ul>	<li>T->A at 96</li><li>D->A at 98</li><li>L->S at 100</li><li>V->M at 140: in dbSNP:rs3734638</li>									rs3734638	3
Q9UBP9	51454	<ul><li>L->P at 176: Loss of dimerization; when associated with P-183</li><li>L->P at 183: Loss of dimerization; when associated with P-176</li></ul>											1
Q9UBQ0	51699	<ul><li>D->A at 8: Loss of protein phosphatase activity</li><li>N->A at 39: Loss of protein phosphatase activity</li><li>N->D at 39: No effect on protein phosphatase activity</li><li>D->A,N at 62: Loss of protein phosphatase activity</li><li>H->A at 86: Loss of protein phosphatase activity</li><li>H->A at 117: Loss of protein phosphatase activity</li></ul>								<li>Q7M7K5</li><li>Q5X1E5</li><li>Q7MAZ9</li><li>Q8XBL4</li><li>Q7MBF4</li><li>Q5P3T0</li><li>Q88A53</li><li>Q5PC82</li><li>Q8Z3M9</li><li>Q821A6</li><li>Q5ZRX9</li><li>Q87SK9</li><li>Q9JZ88</li><li>Q9CP21</li><li>Q82U82</li><li>Q9I5V3</li><li>Q5F8K9</li><li>Q63YC3</li><li>Q8Y395</li><li>Q6LV05</li><li>Q8ZLY4</li><li>Q6FA38</li><li>Q9PDL7</li><li>Q62EU1</li><li>Q9JUB2</li><li>Q5WT58</li><li>Q665U9</li><li>Q57JQ5</li><li>Q9KPC6</li><li>Q8CWL6</li><li>Q8P5D4</li><li>Q8PPG9</li><li>P06961</li><li>P45269</li><li>Q88QU2</li><li>Q9L7A3</li><li>Q6D160</li><li>Q87DS9</li><li>Q60CQ4</li><li>Q8ZI64</li><li>Q65Q41</li><li>Q5E2K7</li><li>Q8CXX6</li>			1
Q9UBS4	51726	<ul><li>H->Q at 53: Loss of HSPA5-binding, but no effect on interaction with denatured substrates</li><li>C->S at 169: Drastic loss of interaction with denatured substrates</li><li>C->S at 171: Drastic loss of interaction with denatured substrates</li><li>C->S at 193: Drastic loss of interaction with denatured substrates</li><li>C->S at 196: Drastic loss of interaction with denatured substrates</li></ul>	<li>I->V at 264: in dbSNP:rs8147</li>			binding	GO:0005488			<li>P07823</li><li>Q90593</li><li>Q3S4T7</li><li>P11021</li><li>P16392</li><li>P34935</li>		rs8147	3
Q9UBS8	9604	<ul><li>C->S at 220: Loss of interaction with UBE2E2 and of autoubiquitination</li></ul>								Q96LR5			1
Q9UBT6	51426	<ul><li>D->A at 198: Loss of DNA polymerase activity; when associated with A-199</li><li>E->A at 199: Loss of DNA polymerase activity; when associated with D-198</li></ul>	<li>S->R at 423: in dbSNP:rs35257416</li><li>T->I at 595: in dbSNP:rs5744713</li><li>I->V at 612: in dbSNP:rs3822587</li><li>S->N at 635: in dbSNP:rs35501530</li><li>S->N at 832: in dbSNP:rs5744716</li>							<li>Q9YUS3</li><li>O59610</li><li>Q9YUS2</li><li>P56689</li><li>P06538</li><li>Q69025</li><li>Q9HH84</li><li>P04495</li><li>P43139</li><li>Q56366</li><li>P77933</li><li>P03261</li><li>P19894</li><li>P52025</li><li>P03158</li><li>Q6S6P1</li><li>P09252</li><li>Q85428</li><li>O64235</li><li>P03198</li><li>P28859</li><li>P52367</li><li>O72539</li><li>P52342</li><li>P74918</li><li>P20311</li><li>O70736</li><li>P28857</li><li>P28858</li><li>P20509</li><li>Q9HH05</li><li>Q88469</li><li>P61875</li><li>P61876</li><li>O72540</li><li>Q05254</li><li>Q64751</li><li>P06950</li><li>P06856</li><li>P05664</li><li>Q83948</li><li>P05468</li><li>P08546</li><li>O71121</li><li>Q37882</li><li>P19822</li><li>P10479</li><li>Q58295</li><li>P30321</li><li>P87553</li><li>P30320</li><li>P10582</li><li>P21402</li><li>O33845</li><li>Q51334</li><li>P42489</li><li>P18131</li><li>O27276</li><li>P24907</li><li>P09804</li><li>P41712</li><li>Q84173</li><li>P33793</li><li>P48311</li><li>O57191</li><li>P00581</li><li>P03680</li><li>P04415</li><li>Q5UQR0</li><li>Q90162</li><li>P87503</li><li>Q37989</li><li>P04292</li><li>P30318</li><li>P30317</li><li>P04293</li><li>P07917</li><li>Q38087</li><li>Q65946</li><li>P30319</li><li>P07918</li><li>O29753</li><li>P30314</li><li>P27172</li><li>P06225</li><li>P09854</li>		<li>rs5744713</li><li>rs3822587</li><li>rs35257416</li><li>rs5744716</li><li>rs35501530</li>	3
Q9UBU8	10933	<ul><li>V->E at 208: Abolishes binding to MRFAP1</li><li>E->R at 234: No effect on MRFAP1 binding</li><li>Y->A at 251: No effect on MRFAP1 binding</li><li>N->C at 254: Reduces binding to MRFAP1</li></ul>				binding	GO:0005488						1
Q9UBU9	10482	<ul><li>ERE->AAA at 306-308: Decreases the export of mRNAs from the nucleus</li><li>W->A at 594: Suppresses FG-nucleoporin binding</li><li>D->R at 595: Suppresses FG-nucleoporin binding</li><li>F->A at 617: Suppresses FG-nucleoporin binding</li></ul>				binding	GO:0005488	nucleus	GO:0005634				1
Q9UBY8	2055	<ul><li>KK->RR at 283-284: Localizes to the Golgi complex</li></ul>	<li>L->M at 16: in CLN8; associated with M-170 on the same allele, MIM: 600143</li><li>R->G at 24: in EPMR, MIM: 610003</li><li>H->Y at 92: in dbSNP:rs34030778, MIM: 610003</li><li>A->V at 155, MIM: 610003</li><li>T->M at 170: in CLN8; associated with M-16 on the same allele, MIM: 600143</li><li>R->C at 204: in CLN8, MIM: 600143</li><li>W->C at 263: in CLN8; dbSNP:rs28940569, MIM: 600143</li>					Golgi complex	GO:0005794	<li>Q5JZQ7</li><li>Q9UBY8</li>	<li>Neuronal ceroid lipofuscinosis 8 (CLN8) [MIM:600143]</li><li>Progressive epilepsy with mental retardation (EPMR) [MIM:610003]</li>	<li>rs28940569</li><li>rs34030778</li>	3
Q9UBZ9	51455	<ul><li>D->A at 570: Abolishes transferase activity; when associated with A-571</li><li>E->A at 571: Abolishes transferase activity; when associated with A-570</li></ul>	<li>V->M at 138: in dbSNP:rs3087403</li><li>F->S at 257: in dbSNP:rs3087386</li><li>N->D at 306: in dbSNP:rs28382882</li><li>N->S at 373: in dbSNP:rs3087399</li><li>M->V at 656: in dbSNP:rs3087394</li><li>L->W at 660: in dbSNP:rs3087398</li><li>D->N at 700: in dbSNP:rs28382941</li><li>R->Q at 704: in dbSNP:rs28382942</li><li>P->H at 902: in dbSNP:rs28382961</li><li>P->S at 902: in dbSNP:rs28382960</li><li>S->I at 921: in dbSNP:rs3087396</li><li>A->T at 1003: in dbSNP:rs3087401</li><li>P->T at 1060: in dbSNP:rs3087388</li><li>N->K at 1074: in dbSNP:rs3087393</li><li>N->T at 1091: in dbSNP:rs3087392</li><li>L->P at 1102: in dbSNP:rs3087400</li>			transferase activity	GO:0016740					<li>rs28382882</li><li>rs3087401</li><li>rs3087388</li><li>rs3087403</li><li>rs3087386</li><li>rs3087398</li><li>rs3087399</li><li>rs3087400</li><li>rs3087393</li><li>rs3087394</li><li>rs3087396</li><li>rs28382960</li><li>rs3087392</li><li>rs28382961</li><li>rs28382941</li><li>rs28382942</li>	3
Q9UDY8	10892	<ul><li>C->A at 464: Slight decrease in NF-kappa-B activation</li><li>E->A at 653: Abolishes binding to TRAF6</li><li>E->A at 806: Abolishes binding to TRAF6</li></ul>	<li>I->V at 641: in dbSNP:rs35533328</li>			binding	GO:0005488			Q9Y4K3		rs35533328	3
Q9UEE5	9263	<ul><li>K->A at 90: Loss of activity and of apoptotic function</li></ul>	<li>E->D at 126: in dbSNP rsrs56286238</li><li>M->T at 167: in dbSNP rsrs35940029</li><li>E->Q at 286: in dbSNP:rs3779062</li><li>E->K at 362: in dbSNP:rs1044141</li>									<li>rs35940029</li><li>rs3779062</li><li>rs56286238</li><li>rs1044141</li>	3
Q9UER7	1616	<ul><li>K->A at 630: Abolishes sumoylation</li><li>K->A at 631: Abolishes sumoylation</li><li>S->A at 668: No translocation to the cytosol upon glucose deprivation</li><li>S->A at 671: No effect on cytosol translocation. upon glucose deprivation</li></ul>		sumoylation	GO:0016925			cytosol	GO:0005829				1
Q9UGI0	54764	<ul><li>C->A at 10: Abolishes the binding to ubiquitin chains but not the deubiquitinating activity; when associated with 14-LV-15; A-90; 94-LV-95; A-155 and 159-LV-160</li><li>TY->LV at 14-15: Abolishes the binding to ubiquitin chains but not the deubiquitinating activity; when associated with A-10; A-90; 94-LV-95; A-155 and 159-LV-160</li><li>C->A at 90: Abolishes the binding to ubiquitin chains but not the deubiquitinating activity; when associated with A-10; 14-LV-15; 94-LV-95; A-155 and 159-LV-160</li><li>TY->LV at 94-95: Abolishes the binding to ubiquitin chains but not the deubiquitinating activity; when associated with A-10; 14-LV-15; A-90; A-155 and 159-LV-160</li><li>C->A at 155: Abolishes the binding to ubiquitin chains but not the deubiquitinating activity; when associated with A-10; 14-LV-15; A-90; 94-LV-95 and 159-LV-160</li><li>TY->LV at 159-160: Abolishes the binding to ubiquitin chains but not the deubiquitinating activity; when associated with A-10; 14-LV-15; A-90; 94-LV-95; and A-155</li><li>C->S at 443: Abolishes the deubiquitinating activity but not the binding to ubiquitin chains</li></ul>				binding	GO:0005488			<li>P69326</li><li>P08565</li><li>P69322</li><li>P69323</li><li>P69324</li><li>P69325</li><li>P68196</li><li>O46543</li><li>P68197</li><li>Q05550</li><li>P68198</li><li>P68199</li><li>P19848</li><li>P19987</li><li>P68195</li><li>P42739</li><li>Q867C2</li><li>P62991</li><li>P62990</li><li>P61863</li><li>P61864</li><li>P61862</li><li>Q867C4</li><li>Q867C3</li><li>P23398</li><li>P68204</li><li>P84589</li><li>Q865C5</li><li>P42740</li><li>P68201</li><li>Q8MKD1</li><li>P14792</li><li>P63049</li><li>P0C072</li><li>P63051</li><li>P69308</li><li>P69309</li><li>P20685</li><li>P15174</li><li>P62976</li><li>P62977</li><li>P62974</li><li>P62975</li><li>P62972</li><li>P13117</li><li>P14624</li><li>P62973</li><li>P46574</li><li>P69310</li><li>P69313</li><li>P69314</li><li>P69311</li><li>P69312</li><li>P08618</li><li>P69317</li><li>P69318</li><li>P0C014</li><li>P69315</li><li>P69316</li><li>P59263</li><li>P69319</li><li>P49634</li><li>P49635</li><li>P22589</li><li>Q9Y848</li><li>P62988</li><li>P62989</li><li>P23324</li><li>P69321</li><li>P69320</li><li>P59669</li>			1
Q9UGK3	55620	<ul><li>Y->F at 22: Small decrease in tyrosine phosphorylation</li><li>Y->F at 250: Loss of tyrosine phosphorylation</li><li>Y->F at 310: Decrease in tyrosine phosphorylation</li><li>Y->F at 322: Decrease in tyrosine phosphorylation</li></ul>	<li>D->N at 93: in dbSNP:rs7247504</li>	phosphorylation	GO:0016310							rs7247504	3
Q9UGL1	10765	<ul><li>H->A at 335: Slightly impairs transcription repression ability</li><li>H->Y at 499: Abolishes enzymatic activity</li><li>H->A at 1200: Impairs transcription repression ability and interaction with HDAC4</li></ul>		transcription	GO:0006350					<li>P56524</li><li>P83038</li>			1
Q9UGP5	27343	<ul><li>K->A at 312: Reduces dRP lyase activity by over 90%</li><li>Y->A at 505: No effect on polymerase activity. Reduces terminal transferase activitites</li><li>F->G,R at 506: Strongly reduces polymerase and terminal transferase activitites</li></ul>	<li>T->P at 221: in dbSNP:rs3730463</li><li>R->W at 438: in dbSNP:rs3730477</li>			lyase activity	GO:0016829			<li>P09838</li><li>O57486</li><li>O02789</li><li>P06526</li><li>P42118</li><li>Q92089</li><li>P04053</li><li>P36195</li>		<li>rs3730477</li><li>rs3730463</li>	3
Q9UH65	23075	<ul><li>RR->EE at 223-224: Abolishes binding to phosphatidylinositol 3,4-bisphosphate and phosphatidic acid and the localization to the loose actin filament arrays</li><li>R->C at 230: Reduced binding to phosphatidylinositol 3,4-bisphosphate and reduced association with actin filament</li><li>W->A at 297: Abolishes binding to plasma membrane</li><li>Missing at 526-585: Affects targeting to loose actin filament arrays</li></ul>	<li>Q->E at 505: in dbSNP:rs415895</li>	localization	GO:0051179	binding	GO:0005488	plasma membrane	GO:0005886	<li>Q92192</li><li>Q92193</li><li>P53499</li><li>P26183</li><li>P53498</li><li>O13419</li><li>Q9P4D1</li><li>P48465</li><li>P53455</li><li>Q39596</li><li>Q39758</li><li>P26182</li><li>P80709</li><li>Q9UVX4</li><li>P78711</li><li>P53689</li><li>O17320</li><li>P30161</li><li>P17128</li><li>P45521</li><li>P81085</li><li>P20904</li><li>P45520</li><li>Q6TCF2</li><li>Q99023</li><li>Q75D00</li><li>P51775</li><li>P10365</li><li>P60011</li><li>P60010</li><li>Q8SWN8</li><li>O16808</li><li>P02577</li><li>P10989</li><li>P68555</li><li>Q05214</li><li>Q8X119</li><li>O65316</li><li>O65315</li><li>O65314</li><li>P53491</li><li>P91754</li><li>P13363</li><li>P11426</li><li>O81221</li><li>Q11212</li><li>P50138</li><li>P53477</li><li>P53476</li><li>P60009</li><li>P53502</li><li>Q2U7A3</li><li>P53500</li><li>Q9UVZ8</li><li>O00937</li><li>P14235</li><li>Q9UVF3</li><li>Q24733</li><li>P90689</li><li>P24902</li><li>O74258</li>		rs415895	3
Q9UHC3	9311	<ul><li>V->A at 528: No effect on interaction with LIN7B, MAGI1 and GOPC</li><li>T->A at 529: Loss of interaction with LIN7B, MAGI1</li><li>Q->A at 530: Loss of interaction with GOPC. No effect on interaction LIN7B and MAGI1</li><li>L->A at 531: Loss of interaction with LIN7B, MAGI1 and GOPC</li></ul>	<li>N->S at 228: in dbSNP:rs1864545</li>							<li>Q9HD26</li><li>Q96QZ7</li><li>Q9HAP6</li><li>Q5RD32</li>		rs1864545	3
Q9UHD2	29110	<ul><li>K->A at 38: Loss of TANK-mediated NF-kappa-B activation</li><li>S->A at 172: Loss of kinase activity</li><li>S->E at 172: Decreased kinase activity</li></ul>	<li>R->Q at 271: in dbSNP rsrs56196591</li><li>K->E at 291: in dbSNP rsrs34774243</li><li>D->H at 296: in a breast pleomorphic lobular carcinoma sample; somatic mutation</li><li>N->D at 388: in dbSNP:rs17857028</li><li>G->R at 410: in a colorectal adenocarcinoma sample; somatic mutation</li><li>V->A at 464: in dbSNP rsrs35635889</li><li>K->Q at 570: in dbSNP:rs17853341</li>			kinase activity	GO:0016301			Q92844		<li>rs17857028</li><li>rs34774243</li><li>rs35635889</li><li>rs17853341</li><li>rs56196591</li>	3
Q9UHG2	27344	<ul><li>V->A at 235: Reduces inhibition of PCSK1</li><li>L->A at 236: Greatly reduces inhibition of PCSK1</li><li>G->A at 237: Reduces inhibition of PCSK1</li><li>L->A at 240: Reduces inhibition of PCSK1</li><li>R->A at 241: Reduces inhibition of PCSK1</li><li>V->A at 242: Reduces inhibition of PCSK1</li><li>K->A at 243: Abolishes inhibition of PCSK1</li><li>R->A at 244: Abolishes inhibition of PCSK1</li><li>L->A at 245: Reduces inhibition of PCSK1</li><li>E->A at 246: Reduces inhibition of PCSK1</li></ul>	<li>A->T at 31: in dbSNP:rs11538176</li>							<li>Q9GLR1</li><li>P29120</li>		rs11538176	3
Q9UHL9	9569	<ul><li>Missing at 898-959: Cytoplasmic localization</li></ul>	<li>M->V at 652: in dbSNP:rs2301895</li>	localization	GO:0051179							rs2301895	3
Q9UHR4	55971	<ul><li>K->E at 141: Loss ability to induce the formation of actin clusters; when associated with K-142; R-145 and K-146</li><li>K->E at 142: Loss ability to induce the formation of actin clusters; when associated with K-141; R-145 and K-146</li><li>R->E at 145: Loss ability to induce the formation of actin clusters; when associated with K-141; K-142 and K-146</li><li>K->E at 146: Loss ability to induce the formation of actin clusters; when associated with K-141; K-142 and R-145</li><li>Missing at 488-511: Loss ability to induce the formation of actin clusters; induce the formation of long filipodia</li></ul>	<li>S->T at 460: in dbSNP:rs2269966</li>							<li>Q92192</li><li>Q92193</li><li>P53499</li><li>P26183</li><li>P53498</li><li>O13419</li><li>Q9P4D1</li><li>P48465</li><li>P53455</li><li>Q39596</li><li>Q39758</li><li>P26182</li><li>P80709</li><li>Q9UVX4</li><li>P78711</li><li>P53689</li><li>O17320</li><li>P30161</li><li>P17128</li><li>P45521</li><li>P81085</li><li>P20904</li><li>P45520</li><li>Q6TCF2</li><li>Q99023</li><li>Q75D00</li><li>P51775</li><li>P10365</li><li>P60011</li><li>P60010</li><li>Q8SWN8</li><li>O16808</li><li>P02577</li><li>P10989</li><li>P68555</li><li>Q05214</li><li>Q8X119</li><li>O65316</li><li>O65315</li><li>O65314</li><li>P53491</li><li>P91754</li><li>P13363</li><li>P11426</li><li>O81221</li><li>Q11212</li><li>P50138</li><li>P53477</li><li>P53476</li><li>P60009</li><li>P53502</li><li>Q2U7A3</li><li>P53500</li><li>Q9UVZ8</li><li>O00937</li><li>P14235</li><li>Q9UVF3</li><li>Q24733</li><li>P90689</li><li>P24902</li><li>O74258</li>		rs2269966	3
Q9UHX3	30817	<ul><li>S->A at 518: Abolishes cleavage</li></ul>	<li>T->I at 605: in dbSNP:rs4410209</li><li>L->F at 614: in dbSNP:rs2524383</li><li>S->F at 665: in dbSNP:rs3752187</li>									<li>rs3752187</li><li>rs2524383</li><li>rs4410209</li>	3
Q9UIB8	8832	<ul><li>T->A at 55: Loss of dimerization</li><li>Y->A at 62: No effect</li><li>Y->D at 62: Loss of dimerization</li><li>T->A at 77: Loss of dimerization</li><li>H->A at 78: Loss of dimerization</li><li>D->A at 110: Loss of dimerization</li><li>N->A at 112: Loss of dimerization</li><li>T->A at 119: Loss of dimerization</li><li>Y->F at 279: Reduced tyrosine phosphorylation, reduced binding of SH2D1B and loss of binding of SH2D1A</li><li>Y->F at 316: Reduced tyrosine phosphorylation and reduced binding of SH2D1B. Loss of phosphorylation and loss of binding of SH2D1A and SH2D1B; when associated with F-279</li></ul>		phosphorylation	GO:0016310	binding	GO:0005488			<li>O60880</li><li>O14796</li>			1
Q9UIK4	23604	<ul><li>K->A at 52: Loss of activity, apoptotic function and of autophosphorylation</li><li>Missing at 299-330: Loss of ca(2+)-calmodulin binding, increase in activity, loss of autophosphorylation</li><li>S->A at 299: No effect on Ca(2+)-calmodulin independent phosphorylation or apoptotic activity</li><li>S->A at 318: Loss of Ca(2+)-calmodulin independent phosphorylation, increase in apoptotic activity</li><li>S->D at 318: Abolishes apoptotic activity</li><li>S->A at 320: No effect on Ca(2+)-calmodulin independent phosphorylation or apoptotic activity</li><li>S->A at 323: No effect on Ca(2+)-calmodulin independent phosphorylation or apoptotic activity</li><li>T->A at 329: No effect on Ca(2+)-calmodulin independent phosphorylation or apoptotic activity</li></ul>	<li>R->W at 60: in dbSNP rsrs56047843</li><li>R->W at 271: in dbSNP rsrs34270163</li>	<li>phosphorylation</li><li>autophosphorylation</li>	<li>GO:0016310</li><li>GO:0046777</li>	binding	GO:0005488			<li>Q40302</li><li>Q8STF0</li><li>P04353</li><li>P41040</li><li>P04352</li><li>Q9GRJ1</li><li>P61860</li><li>P02594</li><li>P02595</li><li>P61861</li><li>P48976</li><li>O82018</li><li>P62144</li><li>P62184</li><li>P93171</li><li>P62145</li><li>P07463</li><li>Q5RAD2</li><li>P24044</li><li>P11121</li><li>P62149</li><li>O02367</li><li>P06787</li><li>Q6IT78</li><li>P05935</li><li>P05933</li><li>O16305</li><li>Q6PI52</li><li>P05934</li><li>Q6YNX6</li><li>Q7Y052</li><li>Q95NR9</li><li>P11118</li><li>P62157</li><li>P62156</li><li>P21251</li><li>P62155</li><li>Q5EHV7</li><li>P62154</li><li>P62152</li><li>P62151</li><li>Q7T3T2</li><li>P69097</li><li>P69098</li><li>P60206</li><li>Q9U6D3</li><li>Q9HFY6</li><li>P60205</li><li>P60204</li><li>P62158</li><li>O96102</li><li>P18061</li><li>P62201</li><li>P11120</li><li>P93087</li><li>Q8X187</li><li>O60041</li><li>P62160</li><li>P62204</li><li>Q05055</li><li>P62203</li><li>P61859</li><li>P62202</li><li>P17928</li><li>P15094</li><li>Q95NI4</li><li>P02598</li><li>P62162</li><li>Q9UWF0</li><li>P02599</li><li>P62161</li><li>Q71UH6</li><li>Q71UH5</li><li>O97341</li><li>P04464</li><li>P27165</li><li>Q39752</li><li>P27166</li><li>P84339</li><li>P23286</li><li>P27161</li><li>O94739</li><li>P41041</li><li>Q6R520</li>		<li>rs34270163</li><li>rs56047843</li>	3
Q9UIM3	63943	<ul><li>K->A at 287: Abolishes HSP90AB1 binding; when associated with A-291</li><li>R->A at 291: Abolishes HSP90AB1 binding; when associated with A-287</li></ul>				binding	GO:0005488			<li>P30947</li><li>Q04619</li><li>Q76LV1</li><li>P08238</li><li>Q9GKX8</li>			1
Q9UIS9	4152	<ul><li>R->A at 22: Abolishes binding to methylated DNA</li><li>R->A at 30: Strongly reduces binding to methylated DNA</li><li>D->A at 32: Strongly reduces binding to methylated DNA</li><li>Y->A at 34: Reduces binding to methylated DNA</li><li>R->A at 44: Abolishes binding to methylated DNA</li><li>S->A at 45: Slightly reduces binding to methylated DNA</li><li>Y->A at 52: No effect</li><li>F->A at 64: Disrupts tertiary structure and abolishes DNA binding</li><li>K->A at 499: Abolishes sumoylation; when associated with A-538</li><li>E->A at 501: Abolishes sumoylation; when associated with A-540</li><li>K->A at 538: Abolishes sumoylation; when associated with A-499</li><li>E->A at 540: Abolishes sumoylation; when associated with A-501</li><li>I->R at 576: Abolishes interaction with AFT7IP and subsequent transcription repression activity</li></ul>	<li>P->A at 401: in dbSNP:rs125555</li>	<li>sumoylation</li><li>transcription</li>	<li>GO:0016925</li><li>GO:0006350</li>	<li>binding</li><li>DNA binding</li>	<li>GO:0005488</li><li>GO:0003677</li>					rs125555	3
Q9UJ41	27342	<ul><li>A->G at 196: Reduces affinity for ubiquitin 3-fold</li><li>D->A at 530: Strongly reduced activity</li><li>P->A at 534: Strongly reduced activity</li><li>Y->A at 571: Strongly reduced activity</li><li>T->A at 574: Strongly reduced activity</li></ul>								<li>P69326</li><li>P08565</li><li>P69322</li><li>P69323</li><li>P69324</li><li>P69325</li><li>P68196</li><li>O46543</li><li>P68197</li><li>Q05550</li><li>P68198</li><li>P68199</li><li>P19848</li><li>P68195</li><li>P42739</li><li>Q867C2</li><li>P62991</li><li>P62990</li><li>P61863</li><li>P61864</li><li>P61862</li><li>Q867C4</li><li>Q867C3</li><li>P23398</li><li>P68204</li><li>P84589</li><li>Q865C5</li><li>P42740</li><li>P68201</li><li>Q8MKD1</li><li>P14792</li><li>P63049</li><li>P0C072</li><li>P63051</li><li>P69308</li><li>P69309</li><li>P20685</li><li>P15174</li><li>P62976</li><li>P62977</li><li>P62974</li><li>P62975</li><li>P62972</li><li>P13117</li><li>P14624</li><li>P62973</li><li>P46574</li><li>P69310</li><li>P69313</li><li>P69314</li><li>P69311</li><li>P69312</li><li>P08618</li><li>P69317</li><li>P69318</li><li>P0C014</li><li>P69315</li><li>P69316</li><li>P59263</li><li>P69319</li><li>P49634</li><li>P49635</li><li>P22589</li><li>Q9Y848</li><li>P62988</li><li>P62989</li><li>P23324</li><li>P69321</li><li>P69320</li><li>P59669</li>			1
Q9UJU6	28988	<ul><li>D->A at 361: Abolishes cleavage by caspase-3</li></ul>											1
Q9UJY4	23062	<ul><li>LIDLE->AADAA at 349-353: Partial loss of clathrin-binding</li></ul>	<li>A->P at 424: in dbSNP:rs1135045</li>			clathrin-binding	GO:0030276					rs1135045	3
Q9UJY5	26088	<ul><li>N->A at 92: Abolishes interaction with IGF2R</li><li>L->A at 182: Abolishes interaction with ARF1, UBC and TSG101</li><li>N->A at 194: Abolishes interaction with ARF1 and RABEP1</li><li>I->A at 197: Abolishes interaction with ARF1, UBC and TSG101</li><li>K->A at 198: Abolishes interaction with ARF1</li><li>M->A at 200: Abolishes interaction with ARF1</li><li>D->A at 204: Abolishes interaction with ARF1</li><li>M->K at 259: Abolishes interaction with RABEP1</li><li>R->A at 260: No effect on interaction with RABEP1</li><li>R->E at 260: Abolishes interaction with RABEP1 and UBC</li><li>F->A at 264: Abolishes interaction with RABEP1</li><li>A->D at 267: Abolishes interaction with RABEP1 and UBC</li><li>L->A at 277: Abolishes interaction with RABEP1, UBC and TSG101</li><li>L->A at 281: Abolishes interaction with RABEP1</li><li>N->A at 284: Abolishes interaction with RABEP1</li><li>N->S at 284: Abolishes interaction with RABEP1</li><li>S->A at 355: Increased interaction with IGF2R. Reduced phosphorylation</li><li>S->D at 355: Abolishes interaction with IGF2R</li><li>LLDDE->AADAA at 356-360: Partial loss of clathrin-binding</li><li>D->A at 358: Increased interaction with IGF2R</li><li>LM->AA at 361-362: Increased interaction with IGF2R</li><li>A->D at 563: Abolishes interaction with CCDC91</li><li>V->D at 564: Abolishes interaction with CCDC91</li><li>V->E at 570: Abolishes interaction with CCDC91</li><li>L->E at 572: Abolishes interaction with CCDC91</li></ul>	<li>G->S at 239: in a breast cancer sample; somatic mutation</li><li>P->A at 484: in a breast cancer sample; somatic mutation</li>	phosphorylation	GO:0016310	clathrin-binding	GO:0030276			<li>Q99816</li><li>Q8L7G0</li><li>P84080</li><li>P22274</li><li>P11076</li><li>O23778</li><li>Q867C2</li><li>Q5UQC9</li><li>Q75A26</li><li>P61209</li><li>Q7Z6B0</li><li>P84077</li><li>Q867C4</li><li>Q4R5P2</li><li>Q867C3</li><li>P36397</li><li>Q15276</li><li>P27949</li><li>Q94650</li><li>P11717</li><li>P25869</li><li>P49076</li><li>P61210</li><li>O48649</li><li>P62988</li><li>P08169</li><li>Q96361</li><li>Q25761</li><li>P51821</li><li>Q5RCA7</li><li>P51822</li>			3
Q9UK55	51156	<ul><li>Y->A at 408: Loss of inhibitory activity</li></ul>	<li>K->R at 46: in dbSNP:rs941590</li><li>S->G at 61: in dbSNP:rs941591</li><li>G->R at 139: in dbSNP rsrs56137907</li><li>L->Q at 158: in dbSNP:rs2232699</li><li>T->S at 161: in dbSNP:rs2232700</li><li>R->H at 196: in dbSNP:rs2232701</li><li>G->S at 271: in dbSNP:rs2232708</li><li>Q->P at 384</li><li>Q->R at 384: in dbSNP:rs2232710</li>									<li>rs2232700</li><li>rs2232710</li><li>rs941591</li><li>rs2232708</li><li>rs941590</li><li>rs2232699</li><li>rs2232701</li><li>rs56137907</li>	3
Q9UK73	10116	<ul><li>D->A at 342: Prevents cleavage by a caspase-3-like protease</li><li>D->A at 356: Does not affect cleavage by a caspase-3-like protease</li></ul>								<li>P19028</li><li>P24107</li><li>Q9QBZ5</li><li>Q9QBZ1</li><li>P15833</li><li>Q79666</li><li>P18042</li><li>P03362</li><li>P04024</li><li>P03363</li><li>Q8AII1</li><li>P04023</li><li>P10978</li><li>O93215</li><li>P26810</li><li>Q1A249</li><li>P03356</li><li>P03355</li><li>O41798</li><li>P20892</li><li>Q9Y6I0</li><li>P10210</li><li>Q9QBY3</li><li>P03353</li><li>P16901</li><li>Q74120</li><li>Q09SZ9</li><li>Q89928</li><li>Q73368</li><li>P84454</li><li>Q9WC63</li><li>P20825</li><li>Q9IDV9</li><li>P0C211</li><li>P51518</li><li>P0C210</li><li>Q4U0X6</li><li>P12451</li><li>P07570</li><li>P28936</li><li>O89940</li><li>P24740</li><li>P26809</li><li>P26808</li><li>Q0R5R3</li><li>Q0R5R2</li><li>P18802</li><li>P19561</li><li>P10394</li><li>P16423</li><li>P63119</li><li>P19560</li><li>Q75002</li><li>P04589</li><li>P04587</li><li>P04588</li><li>Q9QSR3</li><li>O91080</li><li>P16046</li><li>P17757</li><li>P12497</li><li>P12499</li><li>P12498</li><li>P03311</li><li>P20875</li><li>P20876</li><li>P10273</li><li>Q9WC54</li><li>P10272</li><li>P10271</li><li>P10270</li><li>P19199</li><li>P05962</li><li>P18096</li><li>P10265</li><li>P04584</li><li>P11227</li><li>P04585</li><li>Q76634</li><li>Q8I7P9</li><li>Q9Q720</li><li>P14078</li><li>P31822</li><li>P11365</li><li>P35963</li><li>P14074</li><li>P05959</li><li>P63131</li><li>P04323</li><li>P10274</li><li>P21407</li><li>O89290</li><li>P35956</li><li>P05960</li><li>P05961</li><li>Q1A267</li><li>P63122</li><li>P63123</li><li>P63124</li><li>P63125</li><li>P63120</li><li>P63121</li><li>P03366</li><li>P03367</li><li>P03369</li><li>P63127</li><li>P63128</li><li>P63129</li><li>P03370</li><li>Q77373</li><li>P27502</li><li>P21414</li>			1
Q9UKB5	55966	<ul><li>L->A at 303: Mistargeting to the apical membrane</li><li>Y->A at 350: Mistargeting to the apical membrane</li><li>Y->A at 368: Mistargeting to the apical membrane</li><li>Y->A at 380: Mistargeting to the apical membrane</li><li>LI->HV at 396-397: Mistargeting to the apical membrane</li><li>L->A at 396: Mistargeting to the apical membrane</li></ul>	<li>G->R at 263: in dbSNP:rs242056</li>					membrane	GO:0016020			rs242056	3
Q9UKF6	51692	<ul><li>DH->KA at 75-76: Loss of endonuclease activity</li><li>K->R at 462: Reduced sumoylation; when associated with R-465 and R-545</li><li>K->R at 465: Reduced sumoylation; when associated with R-462 and R-545</li><li>K->R at 545: Reduced sumoylation; when associated with R-462 and R-465</li></ul>	<li>E->G at 142: in dbSNP:rs17850770</li><li>D->N at 578: in a breast cancer sample; somatic mutation</li>	sumoylation	GO:0016925					<li>P04323</li><li>P20825</li><li>P10399</li><li>P10978</li><li>P00641</li><li>Q00962</li><li>P38446</li><li>P15629</li><li>P13717</li><li>P05400</li><li>P03554</li><li>Q03269</li><li>P03556</li><li>P03555</li><li>Q03277</li><li>P10394</li><li>Q03278</li><li>Q03275</li><li>Q05118</li><li>Q03276</li><li>P11283</li><li>P16423</li><li>Q03273</li><li>Q03274</li><li>Q03271</li><li>P09523</li><li>Q03272</li><li>P11369</li><li>Q03270</li><li>Q8I7P9</li><li>P11367</li><li>Q02964</li><li>P20314</li><li>P10400</li><li>Q03279</li><li>P10401</li>		rs17850770	3
Q9UKI8	9874	<ul><li>D->A at 607: Loss of kinase activity</li><li>S->A at 743: Loss of kinase inhibition in response to DNA damage</li><li>S->D at 743: Loss of kinase inhibition in response to DNA damage</li><li>S->E at 743: Loss of kinase inhibition in response to DNA damage</li></ul>	<li>R->C at 121</li>			kinase activity	GO:0016301						3
Q9UKJ1	29992	<ul><li>Y->F at 269: Greatly diminishes interaction with PTPN6</li></ul>								P29350			1
Q9UKJ5	26511	<ul><li>CGCLCCCC->SGSLS at 88-95: Loss of palmitoylation. Abolishes membrane association</li></ul>						membrane	GO:0016020				1
Q9UKT4	26271	<ul><li>E->A at 143: Delays degradation</li><li>S->E at 145: Degraded in similar manner to wild-type</li><li>S->N at 145: Not mitotically degraded. Shows impaired interaction with BTRC and reduced phosphate incorporation; when associated with N-149</li><li>S->A at 148: Degraded in similar manner to wild-type</li><li>S->E at 149: Degraded in similar manner to wild-type</li><li>S->N at 149: Not mitotically degraded. Shows impaired interaction with BTRC and reduced phosphate incorporation; when associated with N-145</li><li>S->A at 182: Shows impaired interaction with BTRC</li><li>KRNPKVD->AAAAAA at 210-216: Loss of interaction with EVI5</li><li>C->S at 401: Reduced inhibition of APC</li></ul>	<li>Q->E at 107: in dbSNP:rs2073260</li><li>L->F at 164: in dbSNP:rs7763565</li>							<li>Q9Y297</li><li>O60447</li><li>P25054</li>		<li>rs2073260</li><li>rs7763565</li>	3
Q9UKV3	22985	<ul><li>D->A at 1093: Abolishes cleavage by CASP3 and chromatin condensation activity</li></ul>	<li>R->K at 257: in dbSNP:rs11555803</li><li>I->M at 311: in dbSNP:rs3811182</li><li>S->P at 467: in dbSNP:rs1885097</li><li>S->F at 478: in dbSNP:rs3751501</li><li>R->Q at 1160: in a colorectal cancer sample; somatic mutation</li>					chromatin	GO:0000785	<li>Q8MJU1</li><li>Q8MKI5</li><li>Q5IS99</li><li>Q2PFV2</li><li>Q60431</li><li>Q8MJC3</li><li>Q95ND5</li><li>P42574</li><li>Q5IS54</li><li>Q08DY9</li>		<li>rs3751501</li><li>rs3811182</li><li>rs1885097</li><li>rs11555803</li>	3
Q9UL54	9344	<ul><li>K->A at 57: Loss of kinase activity</li></ul>				kinase activity	GO:0016301						1
Q9ULC4	28985	<ul><li>T->A at 81: No phosphorylation by MAPK1; decreased stability of MCTS1 protein; Significant cell growth reduction</li><li>S->A at 118: No phosphorylation by CDC2; No cell growth alteration</li></ul>	<li>L->H at 106: in dbSNP:rs2233110</li>	phosphorylation	GO:0016310					<li>Q9W739</li><li>Q9DGA2</li><li>Q9DGA5</li><li>P19026</li><li>Q5RCH1</li><li>Q9DG98</li><li>P06493</li><li>P48734</li><li>P43290</li><li>P23111</li><li>P13863</li><li>P46196</li><li>Q04770</li><li>P52389</li><li>P15436</li><li>P24100</li><li>P28482</li><li>P51958</li><li>P54119</li><li>Q41639</li><li>P93101</li><li>Q9DGD3</li><li>Q5Z9J0</li>		rs2233110	3
Q9UM07	23569	<ul><li>R->A at 374: Strongly reduces enzymatic activity</li><li>C->A at 645: Abolishes enzymatic activity</li></ul>	<li>R->H at 8: in dbSNP:rs35381732</li><li>S->G at 55: in dbSNP:rs11203366</li><li>T->M at 79: in dbSNP:rs35809521</li><li>A->V at 82: in dbSNP:rs11203367</li><li>D->N at 89</li><li>P->T at 102: in dbSNP rsrs34309058</li><li>A->G at 112: in dbSNP:rs874881</li><li>R->T at 131: in dbSNP:rs12733102</li><li>M->T at 164: in dbSNP:rs11588132</li><li>D->N at 260: in dbSNP:rs35903413</li><li>S->F at 275: in dbSNP:rs1748020</li>									<li>rs11203367</li><li>rs35903413</li><li>rs35381732</li><li>rs35809521</li><li>rs11588132</li><li>rs874881</li><li>rs12733102</li><li>rs34309058</li><li>rs1748020</li><li>rs11203366</li>	3
Q9UMR2	11269	<ul><li>E->Q at 243: Loss of activity</li></ul>	<li>V->L at 149: in dbSNP:rs34607244</li>									rs34607244	3
Q9UMR5	9374	<ul><li>S->A at 111: Abolishes enzymatic activity</li><li>D->A at 228: Abolishes enzymatic activity</li><li>H->A at 283: Abolishes enzymatic activity</li><li>H->A at 287: No effect on enzymatic activity</li></ul>	<li>W->C at 5: in dbSNP:rs3134604</li><li>A->E at 34: in dbSNP:rs3096696</li>									<li>rs3134604</li><li>rs3096696</li>	3
Q9UMX1	51684	<ul><li>E->A at 106: No effect on down-regulation of GLI1 activity</li><li>D->A at 111: No effect on down-regulation of GLI1 activity</li><li>T->A,D at 128: No effect on down-regulation of GLI1 activity</li><li>E->A at 152: No effect on down-regulation of GLI1 activity</li><li>D->A at 159: Abolishes down-regulation of GLI1 activity. Has only slight effect on GLI1 binding</li><li>E->A at 181: No effect on down-regulation of GLI1 activity</li><li>E->A at 221: No effect on down-regulation of GLI1 activity</li><li>D->A at 262: No effect on down-regulation of GLI1 activity</li></ul>	<li>P->L at 15: in dbSNP rsrs28942088</li><li>A->S at 340: in dbSNP rsrs34135067</li>			binding	GO:0005488			<li>P55878</li><li>P08151</li>		<li>rs34135067</li><li>rs28942088</li>	3
Q9UN19	27071	<ul><li>R->K at 61: No change in BCR-induced NFAT activation</li><li>K->L at 173: No interaction with 3-phosphoinositides</li><li>R->C at 184: No membrane association</li><li>K->E at 197: No membrane association</li><li>W->L at 250: No interaction with 3-phosphoinositides</li></ul>						membrane	GO:0016020	P11274			1
Q9UN37	27183	<ul><li>V->A,D at 13: Diminishes interaction with IST1</li><li>V->D at 13: Abolishes interaction with CHMP6, no effect on interaction with CHMP1A</li><li>V->D at 13: Greatly diminishes localization to punctate class E compartments; when associated with Q-173</li><li>L->A,D at 64: Abolishes interaction with CHMP1B; diminishes interaction with IST1</li><li>L->D at 64: Greatly diminishes localization to punctate class E compartments and partially restores HIV-1 release; when associated with Q-173</li><li>L->D at 64: Modestly reduces interaction with CHMP6</li><li>E->D at 68: Diminshes interaction with CHMP1B</li><li>K->Q at 173: Defective in ATP-binding. Causes membrane association. Induces vacuolation of endosomal compartments and impairs cholesterol sorting. Inhibits HIV-1 release</li><li>K->Q at 173: Greatly diminishes localization to punctate class E compartments and partially restores HIV-1 release; when associated with D-64</li><li>K->Q at 173: Greatly diminishes localization to punctate class E compartments; when associated with D-173</li><li>WL->AA at 201-202: Strongly impairs HIV-1 release</li><li>G->A at 203: Impairs HIV-1 release</li><li>E->Q at 228: Defective in ATP-hydrolysis. Causes membrane association. Induces vacuolation of endosomal compartments and impairs cholesterol and protein sorting. Inhibits HIV-1 release. Increases binding to CHMP1</li></ul>		<li>ATP-hydrolysis</li><li>localization</li>	<li>GO:0006200</li><li>GO:0051179</li>	<li>binding</li><li>ATP-binding</li>	<li>GO:0005488</li><li>GO:0005524</li>	membrane	GO:0016020	<li>Q5ZL55</li><li>Q5ZKX1</li><li>Q5E994</li><li>Q9HD42</li><li>Q7LBR1</li><li>P53843</li><li>Q96FZ7</li><li>Q5R861</li><li>Q5R605</li>			1
Q9UNE0	10913	<ul><li>E->K at 379: Reduces activation of NF-kappa-B</li></ul>	<li>C->Y at 47: in HED</li><li>C->R at 87: in EDA, MIM: 224900</li><li>R->H at 89: in EDA; also in autosomal recessive HED, MIM: 224900</li><li>D->A at 110: in HED, MIM: 224900</li><li>C->R at 148: in HED, MIM: 224900</li><li>V->A at 370: associated with hair morphology; results in decreased downstream activity of NFKB1 48 hours after transfection into cells; dbSNP:rs3827760, MIM: 224900</li><li>R->H at 375: in HED; the mutant protein does not interact with EDARADD and is functionally inactive, MIM: 224900</li><li>L->F at 377: in HED, MIM: 224900</li><li>G->S at 382: in HED, MIM: 224900</li><li>T->M at 403: in HED, MIM: 224900</li><li>T->P at 413: in HED, MIM: 224900</li><li>I->T at 418: in HED, MIM: 224900</li><li>R->Q at 420: in ED3; abolishes NF-kappa-B activation and reduces JNK activation, MIM: 129490</li><li>W->C at 434: in HED, MIM: 129490</li>							<li>Q92838</li><li>Q966Y3</li><li>Q95LN5</li><li>P92208</li><li>Q04861</li><li>Q8WWZ3</li><li>P19838</li><li>Q9BEG5</li><li>Q6F3J0</li>	<li>Ectodermal dysplasia type 3 (ED3) [MIM:129490]</li><li>Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]</li>	rs3827760	3
Q9UNH5	8556	<ul><li>D->A at 251: Loss of phosphatase activity</li><li>C->S at 278: Loss of phosphatase activity</li><li>R->A at 284: Loss of phosphatase activity</li><li>M->A at 362: Inappropriate nucleolar localization; when associated with A-364</li><li>I->A at 364: Inappropriate nucleolar localization; when associated with A-362</li></ul>	<li>R->Q at 345: in dbSNP rsrs28364897</li><li>D->Y at 493: in a colorectal cancer sample; somatic mutation</li><li>S->F at 589: in dbSNP:rs28364923</li>	localization	GO:0051179					<li>Q7M7K5</li><li>Q5X1E5</li><li>Q7MAZ9</li><li>Q8XBL4</li><li>Q7MBF4</li><li>Q5P3T0</li><li>Q88A53</li><li>Q5PC82</li><li>Q8Z3M9</li><li>Q821A6</li><li>Q5ZRX9</li><li>Q87SK9</li><li>Q9JZ88</li><li>Q9CP21</li><li>Q82U82</li><li>Q9I5V3</li><li>Q5F8K9</li><li>Q63YC3</li><li>Q8Y395</li><li>Q6LV05</li><li>Q8ZLY4</li><li>Q6FA38</li><li>Q9PDL7</li><li>Q62EU1</li><li>Q9JUB2</li><li>Q5WT58</li><li>Q665U9</li><li>Q57JQ5</li><li>Q9KPC6</li><li>Q8CWL6</li><li>Q8P5D4</li><li>Q8PPG9</li><li>P06961</li><li>P45269</li><li>Q88QU2</li><li>Q9L7A3</li><li>Q6D160</li><li>Q87DS9</li><li>Q60CQ4</li><li>Q8ZI64</li><li>Q65Q41</li><li>Q5E2K7</li><li>Q8CXX6</li>		<li>rs28364923</li><li>rs28364897</li>	3
Q9UNQ0	9429	<ul><li>K->M at 86: Inactive and altered subcellular location</li><li>N->Q at 418: No effect</li><li>R->D at 482: Decreases ATPase activity</li><li>R->G,N,S,T at 482: Increases ATPase activity</li><li>R->K,I,M,Y at 482: No change in ATPase activity</li><li>R->T,Y at 482: Decreases transport activity</li><li>N->Q at 557: No effect</li><li>N->Q at 596: Loss of glycosylation</li></ul>	<li>V->M at 12: in dbSNP:rs2231137</li><li>Q->K at 141: lower transport efficiency; dbSNP:rs2231142</li><li>Q->E at 166: in dbSNP:rs1061017</li><li>I->L at 206: in dbSNP rsrs12721643</li><li>F->S at 208: in dbSNP:rs1061018</li><li>S->P at 248: in dbSNP:rs3116448</li><li>D->H at 296: in dbSNP rsrs41282401</li><li>T->P at 316</li><li>F->L at 431</li><li>F->L at 489</li><li>A->T at 528: in dbSNP rsrs45605536</li><li>F->I at 571: in dbSNP:rs9282571</li><li>N->Y at 590: in dbSNP rsrs34264773</li><li>D->N at 620: in dbSNP rsrs34783571</li>	transport	GO:0006810	ATPase activity	GO:0016887					<li>rs45605536</li><li>rs34264773</li><li>rs12721643</li><li>rs34783571</li><li>rs41282401</li><li>rs9282571</li><li>rs1061018</li><li>rs2231137</li><li>rs1061017</li><li>rs3116448</li><li>rs2231142</li>	3
Q9UNW1	9562	<ul><li>H->A at 370: Greatly diminishes phosphatase activity</li></ul>	<li>S->L at 41: in a follicular thyroid carcinoma; somatic mutation</li><li>Q->R at 270: in a follicular thyroid adenoma</li>							<li>Q7M7K5</li><li>Q5X1E5</li><li>Q7MAZ9</li><li>Q8XBL4</li><li>Q7MBF4</li><li>Q5P3T0</li><li>Q88A53</li><li>Q5PC82</li><li>Q8Z3M9</li><li>Q821A6</li><li>Q5ZRX9</li><li>Q87SK9</li><li>Q9JZ88</li><li>Q9CP21</li><li>Q82U82</li><li>Q9I5V3</li><li>Q5F8K9</li><li>Q63YC3</li><li>Q8Y395</li><li>Q6LV05</li><li>Q8ZLY4</li><li>Q6FA38</li><li>Q9PDL7</li><li>Q62EU1</li><li>Q9JUB2</li><li>Q5WT58</li><li>Q665U9</li><li>Q57JQ5</li><li>Q9KPC6</li><li>Q8CWL6</li><li>Q8P5D4</li><li>Q8PPG9</li><li>P06961</li><li>P45269</li><li>Q88QU2</li><li>Q9L7A3</li><li>Q6D160</li><li>Q87DS9</li><li>Q60CQ4</li><li>Q8ZI64</li><li>Q65Q41</li><li>Q5E2K7</li><li>Q8CXX6</li>			3
Q9UP65	8605	<ul><li>R->A at 54: Abolishes enzyme activity</li><li>S->A at 82: Abolishes enzyme activity</li><li>D->A at 385: Abolishes enzyme activity</li><li>R->A at 402: Abolishes enzyme activity</li></ul>	<li>E->K at 21: in dbSNP:rs11564522</li><li>A->P at 38: in dbSNP:rs2307279</li><li>A->V at 127: in dbSNP:rs11564532</li><li>V->F at 142: in dbSNP:rs11564534</li><li>I->V at 143: in dbSNP:rs2303744</li><li>R->G at 148: in dbSNP:rs2307282</li><li>P->L at 151: in dbSNP:rs11564538</li><li>P->S at 203: in dbSNP:rs156631</li><li>T->S at 226: in dbSNP:rs11564541</li><li>T->P at 360: in dbSNP:rs11564620</li><li>D->N at 411: in dbSNP:rs11564638</li><li>R->C at 430</li>									<li>rs11564541</li><li>rs2307279</li><li>rs156631</li><li>rs11564534</li><li>rs2303744</li><li>rs11564532</li><li>rs11564620</li><li>rs11564522</li><li>rs11564638</li><li>rs11564538</li><li>rs2307282</li>	3
Q9UPN9	51592	<ul><li>C->A at 125: Abolishes E3 activity but does not affect interaction with SMAD4; when associated with A-128</li><li>C->A at 128: Abolishes E3 activity but does not affect interaction with SMAD4; when associated with A-125</li></ul>	<li>V->A at 67: in dbSNP:rs6691166</li><li>M->I at 580: in a glioblastoma multiforme sample; somatic mutation</li><li>L->S at 696: in dbSNP rsrs56151583</li><li>E->K at 811: in a lung adenocarcinoma sample; somatic mutation</li><li>T->I at 840: in dbSNP:rs6537825</li><li>P->S at 885: in a glioblastoma multiforme sample; somatic mutation</li><li>V->M at 961: in dbSNP rsrs55688622</li><li>P->T at 1090: in dbSNP rsrs55784699</li>							<li>Q1HE26</li><li>Q13485</li><li>Q9GKQ9</li>		<li>rs6537825</li><li>rs55688622</li><li>rs55784699</li><li>rs6691166</li><li>rs56151583</li>	3
Q9UPQ3	116987	<ul><li>C->S at 647: Loss of GAP activity</li><li>R->K at 652: Loss of GAP activity. No effect on AP-3-binding</li></ul>	<li>S->G at 82: in an autistic patient</li><li>D->G at 148: in dbSNP:rs17855721</li><li>P->L at 522: in dbSNP:rs17840725</li><li>V->I at 671: in dbSNP:rs2034648</li><li>R->G at 798: in an autistic patient</li><li>E->K at 829: in dbSNP:rs15718</li><li>P->T at 854: in a family with an autistic patient</li>			binding	GO:0005488			<li>P20936</li><li>Q92263</li><li>P09851</li><li>Q92211</li><li>Q5PEA9</li><li>P74873</li><li>P74851</li><li>P50904</li>		<li>rs15718</li><li>rs2034648</li><li>rs17840725</li><li>rs17855721</li>	3
Q9UPQ8	22845	<ul><li>G->D at 443: Abolishes kinase activity</li><li>D->A at 451: Reduces kinase activity</li><li>K->A at 470: Reduces kinase activity. Significant reduction in binding affinity for CTP; when associated with A-471</li><li>K->A at 471: Reduces kinase activity. Significant reduction in binding affinity for CTP</li><li>T->A at 472: Reduces kinase activity. Significant reduction in binding affinity for CTP</li><li>E->A at 474: No effect on kinase activity</li><li>G->A at 475: No effect on kinase activity</li></ul>	<li>C->S at 99: in CDG1M; 2% residual activity; fails to complement the temperature-sensitive phenotype of DK1-deficient yeast cells, MIM: 610768</li><li>D->V at 224: in dbSNP:rs17485436, MIM: 610768</li><li>Y->S at 441: in CDG1M; 4% residual activity; fails to complement the temperature-sensitive phenotype of DK1-deficient yeast cells, MIM: 610768</li>			<li>kinase activity</li><li>binding</li>	<li>GO:0016301</li><li>GO:0005488</li>			<li>P38152</li><li>P53007</li><li>P49587</li><li>P34519</li><li>P32089</li><li>P79110</li>	Congenital disorder of glycosylation type 1M (CDG1M) [MIM:610768]	rs17485436	3
Q9UPR3	23381	<ul><li>D->A at 860: Abolishes stimulation of RENT1 dephosphorylation</li></ul>	<li>N->D at 1004: in dbSNP:rs17853821</li>	dephosphorylation	GO:0016311					<li>Q98TR3</li><li>Q92900</li>		rs17853821	3
Q9UPZ9	22858	<ul><li>K->R at 33: Loss of activity and autophosphorylation; when associated with R-34; R-36 and R-38</li><li>K->R at 34: Loss of activity and autophosphorylation; when associated with R-33; R-36 and R-38</li><li>K->R at 36: Loss of activity and autophosphorylation; when associated with R-33; R-34 and R-38</li><li>K->R at 38: Loss of activity and autophosphorylation; when associated with R-33; R-34 and R-36</li><li>T->A at 157: Reduction of activity and loss of autophosphorylation. Loss of activity and autophosphorylation; when associated with F-159</li><li>Y->F at 159: Reduction of activity and loss of autophosphorylation. Loss of activity and autophosphorylation; when associated with A-157</li></ul>	<li>P->L at 98: in dbSNP:rs1493105</li><li>F->Y at 115: in a renal clear cell carcinoma sample; somatic mutation</li><li>V->I at 320: in dbSNP:rs33936662</li><li>T->K at 471: in dbSNP rsrs56164633</li><li>R->Q at 476: in dbSNP rsrs55895113</li><li>A->T at 615: in dbSNP rsrs55932059</li>	autophosphorylation	GO:0046777							<li>rs55932059</li><li>rs56164633</li><li>rs33936662</li><li>rs55895113</li><li>rs1493105</li>	3
Q9UQ80	5036	<ul><li>KYK->AYA at 20-22: Loss of nucleolar localization</li><li>S->A at 363: No effect on in vitro phosphorylation by PKC</li><li>RK->AA at 364-365: Only partial nucleolar localization</li><li>T->A at 366: Decreases in vitro phosphorylation by PKC</li></ul>		<li>phosphorylation</li><li>localization</li>	<li>GO:0016310</li><li>GO:0051179</li>					<li>P13678</li><li>P05130</li><li>P13677</li><li>P34722</li>			1
Q9UQ84	9156	<ul><li>D->A at 78: Abrogates double-stranded DNA exonuclease activity and endonuclease activity against 5'-overhanging flap structures. Also reduces DNA-binding to 5'-overhanging flap structures</li><li>D->A at 173: Abrogates double-stranded DNA exonuclease activity and endonuclease activity against 5'-overhanging flap structures. No effect on DNA-binding to 5'-overhanging flap structures</li><li>D->A at 225: Abrogates double-stranded DNA exonuclease activity and endonuclease activity against 5'-overhanging flap structures. Also enhances DNA-binding to 5'-overhanging flap structures</li><li>K->A,T at 418: Complete loss of nuclear localization</li><li>R->A at 419: Complete loss of nuclear localization</li></ul>	<li>V->A at 27</li><li>V->I at 76: in dbSNP:rs4149864</li><li>R->G at 93: in dbSNP:rs4149865</li><li>E->K at 109: abrogates exonuclease activity</li><li>A->S at 137</li><li>N->S at 279: in dbSNP:rs4149909</li><li>N->S at 299: in dbSNP:rs4149910</li><li>H->R at 354: in dbSNP:rs735943</li><li>L->R at 410: abrogates exonuclease activity</li><li>D->N at 428: in dbSNP:rs4149962</li><li>F->C at 438</li><li>T->M at 439: may be associated with an increased risk of colorectal cancer; dbSNP:rs4149963</li><li>S->Y at 456: in dbSNP:rs4149964</li><li>V->M at 458: in dbSNP:rs4149965</li><li>V->L at 460: in dbSNP:rs4149966</li><li>R->T at 503: in dbSNP:rs4149967</li><li>E->K at 589: in dbSNP:rs1047840</li><li>S->G at 610: in dbSNP:rs12122770</li><li>R->Q at 634: in dbSNP:rs4149978</li><li>P->A at 640</li><li>P->S at 640: reduces interaction with MSH2; abrogates interaction with MSH2; when associated with L-770</li><li>E->G at 670: in dbSNP:rs1776148</li><li>R->C at 723: in dbSNP:rs1635498</li><li>H->P at 726</li><li>P->L at 757: may be associated with a reduced risk of colorectal cancer; dbSNP:rs9350</li><li>G->E at 759: reduces interaction with MSH2; abrogates interaction with MSH2; when associated with L-770; dbSNP:rs4150001</li><li>P->L at 770: reduces interaction with MSH2; abrogates interaction with MSH2; when associated with S-640 or E-759</li><li>A->V at 827</li>	localization	GO:0051179	DNA-binding	GO:0003677			<li>P04323</li><li>P20825</li><li>O24617</li><li>P10399</li><li>P10978</li><li>P00641</li><li>P20321</li><li>Q00962</li><li>Q5XXB5</li><li>P38446</li><li>P25847</li><li>P15629</li><li>P00638</li><li>P13717</li><li>P05400</li><li>P03554</li><li>Q03269</li><li>P03556</li><li>P03555</li><li>Q03277</li><li>P10394</li><li>Q03278</li><li>Q03275</li><li>P16423</li><li>P11283</li><li>Q03276</li><li>Q05118</li><li>Q03273</li><li>Q03274</li><li>Q03271</li><li>P09523</li><li>Q03272</li><li>P11369</li><li>Q03270</li><li>Q8I7P9</li><li>P03697</li><li>P11367</li><li>Q02964</li><li>P43246</li><li>P20314</li><li>P10400</li><li>Q03279</li><li>P10401</li><li>Q3MHE4</li>		<li>rs1635498</li><li>rs4149967</li><li>rs4149966</li><li>rs4149978</li><li>rs4149965</li><li>rs4149964</li><li>rs4149963</li><li>rs4149962</li><li>rs4150001</li><li>rs4149910</li><li>rs4149864</li><li>rs4149909</li><li>rs9350</li><li>rs12122770</li><li>rs4149865</li><li>rs1047840</li><li>rs735943</li><li>rs1776148</li>	3
Q9UQB8	10458	<ul><li>K->E at 142: Abolishes actin-bundling and filopodia formation; when associated with E-143; E-146 and E147</li><li>K->E at 143: Abolishes actin-bundling and filopodia formation; when associated with E-142; E-146 and E147</li><li>K->E at 146: Abolishes actin-bundling and filopodia formation; when associated with E-142; E-143 and E147</li><li>K->E at 147: Abolishes actin-bundling and filopodia formation; when associated with E-142; E-143 and E146</li><li>I->N at 267: Loss of interaction with CDC42. Loss of stimulation of neurite growth</li><li>F->A at 427: Loss of interaction with ENAH and no induction of filopodia; when associated with A-428</li><li>P->A at 428: Loss of interaction with ENAH and no induction of filopodia; when associated with A-427</li></ul>	<li>Q->R at 519: in dbSNP:rs4969391</li>	neurite growth	GO:0007399					<li>Q92192</li><li>Q92193</li><li>P53499</li><li>P26183</li><li>P53498</li><li>O13419</li><li>Q9P4D1</li><li>P48465</li><li>P53455</li><li>Q39596</li><li>Q39758</li><li>P26182</li><li>P80709</li><li>Q9UVX4</li><li>P78711</li><li>P53689</li><li>O17320</li><li>P30161</li><li>Q17031</li><li>P17128</li><li>P45521</li><li>Q9HF56</li><li>P81085</li><li>P20904</li><li>P45520</li><li>Q6TCF2</li><li>Q99023</li><li>Q75D00</li><li>P51775</li><li>P10365</li><li>P60011</li><li>P60010</li><li>Q8SWN8</li><li>O16808</li><li>P02577</li><li>P10989</li><li>P68555</li><li>Q05214</li><li>Q8X119</li><li>O65316</li><li>O65315</li><li>O65314</li><li>P53491</li><li>P91754</li><li>P13363</li><li>P60953</li><li>P11426</li><li>P60952</li><li>O81221</li><li>Q11212</li><li>P50138</li><li>P53477</li><li>P53476</li><li>O94103</li><li>Q90694</li><li>P60009</li><li>P53502</li><li>Q2U7A3</li><li>P53500</li><li>Q9UVZ8</li><li>O00937</li><li>P14235</li><li>Q9UVF3</li><li>O14426</li><li>Q24733</li><li>P90689</li><li>P24902</li><li>O74258</li><li>P19073</li><li>Q8N8S7</li>		rs4969391	3
Q9UQC9	9635	<ul><li>N->Q at 150: Reduction in size by around 2 kDa</li><li>N->Q at 292: No change in size</li><li>N->Q at 522: Reduction in size by around 2 kDa</li><li>N->Q at 637: No change in size</li><li>N->Q at 822: Reduction in size by around 2 kDa</li><li>N->Q at 938: No change in size</li></ul>	<li>V->I at 80: in dbSNP:rs11580625</li><li>Q->E at 306: in dbSNP:rs17409304</li><li>G->D at 534: in dbSNP:rs1413426</li><li>G->E at 754: in a breast cancer sample; somatic mutation</li>									<li>rs17409304</li><li>rs11580625</li><li>rs1413426</li>	3
Q9UQF0	30816	<ul><li>RNK->AAA at 314-316: Complete loss of cleavage between SU and TM. Loss of fusiogenic function</li><li>R->T at 317: Complete loss of cleavage between SU and TM. Loss of fusiogenic function</li><li>C->A at 405: Loss of fusiogenic function. No effect on cleavage between SU and TM</li></ul>	<li>V->A at 129</li><li>R->Q at 138: in dbSNP rsrs55903518</li><li>S->N at 307: in dbSNP:rs10266695</li><li>S->F at 477</li>									<li>rs55903518</li><li>rs10266695</li>	3
Q9UQF2	9479	<ul><li>R->G at 160: Abolishes MAPK9 interaction</li><li>P->G at 161: Abolishes MAPK9 interaction</li><li>P->A at 704: No effect on KNS2 binding</li><li>Y->A at 709: Abolishes KNS2 binding</li></ul>	<li>S->N at 59: in NIDDM, MIM: 125853</li><li>A->V at 322: in dbSNP:rs34420676, MIM: 125853</li><li>R->Q at 353: in dbSNP:rs12295161, MIM: 125853</li>			binding	GO:0005488			<li>Q5R581</li><li>P45984</li><li>O00139</li><li>P79996</li><li>Q07866</li>	Non-insulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	<li>rs12295161</li><li>rs34420676</li>	3
Q9UQK1	5507	<ul><li>V->A at 85: No effect on interaction with EPM2A; when associated with A-87</li><li>F->A at 87: No effect on interaction with EPM2A; when associated with A-85</li><li>D->A at 247: No interaction with EPM2A; when associated with A-250</li><li>D->A at 250: No interaction with EPM2A; when associated with A-247</li></ul>								O95278			1
Q9UQL6	10014	<ul><li>S->A at 259: Reduces CaMK-dependent phosphorylation and the subsequent nuclear export. Abolishes nuclear export; when associated with A-498</li><li>S->A at 279: No effect</li><li>S->A at 498: Reduces CaMK-dependent phosphorylation and the subsequent nuclear export. Abolishes nuclear export; when associated with A-259</li><li>S->A at 661: No effect</li><li>S->A at 713: No effect</li><li>V->A at 1086: Reduces CaMK-dependent nuclear export</li><li>L->A at 1092: Reduces CaMK-dependent nuclear export</li></ul>		<li>phosphorylation</li><li>nuclear export</li>	<li>GO:0016310</li><li>GO:0051168</li>								1
Q9Y233	10846	<ul><li>D->A at 554: Loss of activity and of zinc binding</li><li>D->N at 554: Reduces activity 1000-fold</li></ul>	<li>L->P at 303</li><li>R->K at 706: in dbSNP:rs2224252</li><li>D->N at 707: in dbSNP:rs2860112</li>			zinc binding	GO:0008270					<li>rs2224252</li><li>rs2860112</li>	3
Q9Y239	10392	<ul><li>V->Q at 41: Abolishes caspase-9 activation and interaction with RICK</li><li>K->R at 208: Reduces caspase-9 activation</li></ul>	<li>E->K at 266: in dbSNP:rs2075820</li><li>D->N at 372: in dbSNP:rs5743342</li><li>R->H at 447: in dbSNP:rs2975634</li><li>R->W at 605: in dbSNP:rs5743345</li><li>A->T at 610: in dbSNP:rs5743346</li>							O43353		<li>rs2075820</li><li>rs5743342</li><li>rs5743345</li><li>rs5743346</li><li>rs2975634</li>	3
Q9Y243	10000	<ul><li>T->A at 305: No activation after pervanadate treatment</li><li>T->D at 305: 2-fold increase of phosphorylation steady state level, no activation after pervanadate treatment</li><li>T->A at 447: No effect</li><li>T->D at 447: No effect</li><li>S->A at 472: 67% decrease of activity after pervanadate treatment</li><li>S->D at 472: 1.4-fold increase of phosphorylation steady state level, 50% decrease of activity after pervanadate treatment</li></ul>	<li>G->R at 171: in a glioblastoma multiforme sample; somatic mutation</li>	phosphorylation	GO:0016310								3
Q9Y251	10855	<ul><li>Y->A,E at 156: Alteration of the correct processing of heparanase which results in the cleavage at an upstream site in the linker peptide and no activation of proheparanase</li><li>Y->V at 156: Normal processing</li><li>K->A at 158: No association with GS-modified heparin; when associated with K-158</li><li>K->A at 161: Two-fold increase in the level of secretion upon addition of GS-modified heparin. No association with GS-modified heparin; when associated with K-161</li><li>N->Q at 162: Faster electrophoretic migration typical of a size reduction and important decrease of secretion. Larger size reduction; when associated with Q-178; Q-200; Q-217; Q-238 and Q-459</li><li>N->Q at 178: Faster electrophoretic migration typical of a size reduction and important decrease of secretion. Larger size reduction; when associated with Q-162; Q-200; Q-217; Q-238 and Q-459</li><li>N->Q at 200: Faster electrophoretic migration typical of a size reduction and partial decrease in secretion. Larger size reduction; when associated with Q-162; Q-178; Q-217; Q-238 and Q-459</li><li>N->Q at 217: Faster electrophoretic migration typical of a size reduction and partial decrease in secretion. Larger size reduction; when associated with Q-162; Q-178; Q-200; Q-238 and Q-459</li><li>E->A at 225: Loss of heparanase activity</li><li>N->Q at 238: Faster electrophoretic migration typical of a size reduction. Larger size reduction and important decrease of secretion; when associated with Q-162; Q-178; Q-200; Q-217 and Q-459</li><li>E->A at 343: Loss of heparanase activity</li><li>D->A at 367: Strong decrease in heparanase activity</li><li>E->A at 378: No reduction in heparanase activity</li><li>E->A at 396: No reduction in heparanase activity</li><li>N->Q at 459: Faster electrophoretic migration typical of a size reduction. Larger size reduction and important decrease of secretion; when associated with Q-162; Q-178; Q-200; Q-217 and Q-238</li></ul>	<li>N->S at 260: in some hepatocellular carcinoma</li>	secretion	GO:0046903	heparanase activity	GO:0030305			<li>P02879</li><li>P11140</li><li>P93543</li><li>P28590</li><li>Q06077</li><li>Q06076</li>			3
Q9Y253	5429	<ul><li>Y->A,F at 52: Reduces DNA polymerase activity</li><li>Y->E at 52: Reduces DNA polymerase activity. Increases fidelity of replication and reduces translesion bypass</li></ul>	<li>Missing  at 75: in XPV; impairs translesion synthesis</li><li>R->H at 111: in XPV, MIM: 278750</li><li>T->P at 122: in XPV, MIM: 278750</li><li>G->D at 153: in a breast cancer sample; somatic mutation, MIM: 278750</li><li>G->V at 209: in dbSNP:rs2307456, MIM: 278750</li><li>G->V at 263: in XPV; impairs translesion synthesis, MIM: 278750</li><li>R->W at 334: in dbSNP:rs9333548, MIM: 278750</li><li>R->S at 361: in XPV, MIM: 278750</li><li>T->M at 478: in dbSNP:rs9296419, MIM: 278750</li><li>K->E at 535: in XPV: in dbSNP rsrs56307355, MIM: 278750</li><li>L->P at 584: in dbSNP:rs9333554, MIM: 278750</li><li>K->T at 589: in XPV, MIM: 278750</li><li>M->V at 595: in dbSNP:rs9333555, MIM: 278750</li><li>M->L at 647: in dbSNP:rs6941583, MIM: 278750</li>							<li>Q9YUS3</li><li>O59610</li><li>Q9YUS2</li><li>P56689</li><li>P06538</li><li>Q69025</li><li>Q9HH84</li><li>P04495</li><li>P43139</li><li>Q56366</li><li>P77933</li><li>P03261</li><li>P19894</li><li>P52025</li><li>P03158</li><li>Q6S6P1</li><li>P09252</li><li>Q85428</li><li>O64235</li><li>P03198</li><li>P28859</li><li>P52367</li><li>P52342</li><li>P74918</li><li>O72539</li><li>P20311</li><li>O70736</li><li>P28857</li><li>P28858</li><li>P20509</li><li>Q9HH05</li><li>Q88469</li><li>P61875</li><li>P61876</li><li>O72540</li><li>Q05254</li><li>Q64751</li><li>P06950</li><li>P06856</li><li>P05664</li><li>Q83948</li><li>P05468</li><li>P08546</li><li>O71121</li><li>Q37882</li><li>P19822</li><li>P10479</li><li>Q9Y253</li><li>Q58295</li><li>P30321</li><li>P87553</li><li>P30320</li><li>P10582</li><li>P21402</li><li>O33845</li><li>Q51334</li><li>P42489</li><li>P18131</li><li>O27276</li><li>P24907</li><li>P09804</li><li>P41712</li><li>Q84173</li><li>P33793</li><li>P48311</li><li>O57191</li><li>P00581</li><li>P03680</li><li>P04415</li><li>Q5UQR0</li><li>Q90162</li><li>P87503</li><li>Q37989</li><li>P04292</li><li>P30318</li><li>P30317</li><li>P04293</li><li>P07917</li><li>Q38087</li><li>Q65946</li><li>P30319</li><li>P07918</li><li>O29753</li><li>P30314</li><li>P27172</li><li>P06225</li><li>P09854</li>	Xeroderma pigmentosum variant type (XPV) [MIM:278750]	<li>rs9333548</li><li>rs2307456</li><li>rs9333555</li><li>rs56307355</li><li>rs9333554</li><li>rs9296419</li><li>rs6941583</li>	3
Q9Y257	9424	<ul><li>C->A at 53: No channel activity</li></ul>	<li>T->I at 150: in dbSNP:rs35762773</li><li>V->M at 259: in dbSNP:rs34989303</li>									<li>rs34989303</li><li>rs35762773</li>	3
Q9Y265	8607	<ul><li>D->N at 302: Inhibition of MYC- and CTNNB1-mediated transformation</li></ul>								<li>P01110</li><li>Q9MZT9</li><li>Q9MZT7</li><li>Q9MZT8</li><li>P10395</li><li>Q9MZT6</li><li>Q28566</li><li>P35222</li><li>P68272</li><li>P68271</li><li>P12523</li><li>P01109</li><li>P22555</li><li>P01106</li><li>P49032</li><li>P49033</li><li>Q28350</li><li>Q2HJ27</li><li>Q9MZU0</li><li>Q17103</li><li>P06646</li><li>Q29031</li><li>P0C0N8</li><li>P49709</li><li>P06295</li><li>P23583</li><li>P21438</li><li>P0C0N9</li>			1
Q9Y266	10726	<ul><li>S->A at 274: Abolishes phosphorylation by PLK1; when associated with A-326</li><li>S->A at 326: Abolishes phosphorylation by PLK1; when associated with A-274</li></ul>		phosphorylation	GO:0016310					P53350			1
Q9Y272	51655	<ul><li>C->S at 11: Suppresses NO-induced activation</li></ul>											1
Q9Y294	25842	<ul><li>ED->AA at 36-37: Abrogates interaction with HIRA and induction of senescence-associated heterochromatin foci</li><li>D->A at 37: Abrogates interaction with CHAF1B and HIRA</li><li>D->R at 54: Reduces interaction with histone H3</li><li>VGP->AAA at 62-64: Abrogates interaction with HIRA and induction of senescence-associated heterochromatin foci</li><li>V->R at 94: Abrogates interaction with histone H3 and histone H4</li><li>R->E at 108: Reduces interaction with histone H3</li></ul>		senescence	GO:0007568,GO:0010149			heterochromatin	GO:0000792	<li>Q76FE7</li><li>Q98RY4</li><li>P82888</li><li>P07041</li><li>Q6LAF1</li><li>P91882</li><li>Q6LAF3</li><li>Q27443</li><li>Q8MTV8</li><li>Q76FD9</li><li>P08436</li><li>P35059</li><li>Q7XYZ0</li><li>P35057</li><li>Q5DWI3</li><li>P91890</li><li>Q6WZ83</li><li>P83865</li><li>Q9P427</li><li>P84048</li><li>P84049</li><li>P83864</li><li>Q7KQD1</li><li>Q7K8C0</li><li>P84044</li><li>P84045</li><li>P84046</li><li>P62779</li><li>P84047</li><li>P62778</li><li>P84040</li><li>P62777</li><li>P84041</li><li>P90543</li><li>P62776</li><li>Q8I0Y4</li><li>P84042</li><li>P84043</li><li>P84050</li><li>Q43083</li><li>P08437</li><li>Q6WV90</li><li>P62782</li><li>P62781</li><li>P62784</li><li>Q8NIG3</li><li>P62783</li><li>P62780</li><li>Q9HDF5</li><li>Q7LKT3</li><li>P62789</li><li>Q06196</li><li>P08898</li><li>Q6WV73</li><li>Q27765</li><li>P79987</li><li>P62788</li><li>Q6WV74</li><li>Q9HDN1</li><li>P23753</li><li>P62787</li><li>P59259</li><li>Q7M3Z5</li><li>Q2UCQ0</li><li>P84239</li><li>P84238</li><li>P84237</li><li>P84236</li><li>P84235</li><li>P61835</li><li>P91849</li><li>Q6ZXX3</li><li>P61834</li><li>P61833</li><li>P61832</li><li>P61831</li><li>P61830</li><li>P54198</li><li>Q76H85</li><li>P09322</li><li>P62796</li><li>P62797</li><li>P02299</li><li>P62798</li><li>P62799</li><li>Q757N1</li><li>P62790</li><li>O42611</li><li>P62791</li><li>P62792</li><li>P62793</li><li>P61836</li><li>P62794</li><li>Q6WV72</li><li>P62795</li><li>P80739</li><li>P80738</li><li>Q9U7D0</li><li>Q9U7D1</li><li>P27996</li><li>Q13112</li><li>P90516</li><li>Q8T7J8</li><li>P62803</li><li>P62802</li><li>P62801</li><li>P62800</li><li>Q76MU7</li><li>P02309</li><li>Q8J1L3</li><li>Q6V9I2</li><li>P62806</li><li>P50566</li><li>P62804</li><li>P50564</li><li>P62805</li><li>P04915</li><li>Q76FF5</li><li>Q8SQP4</li><li>P04914</li><li>Q76FF1</li><li>Q6PMI5</li><li>P62887</li><li>P80553</li><li>P40285</li><li>P22843</li><li>P40287</li><li>Q71V09</li>			1
Q9Y2C4	9941	<ul><li>S->D at 137: No effect on catalytic activity</li><li>H->A at 140: Abolishes catalytic activity</li></ul>	<li>G->V at 277: abolishes catalytic activity; dbSNP:rs1141223</li>			catalytic activity	GO:0003824					rs1141223	3
Q9Y2G2	22900	<ul><li>L->R at 366: Inhibits homodimer formation</li></ul>	<li>I->V at 68: in dbSNP:rs11881179</li>									rs11881179	3
Q9Y2H1	23012	<ul><li>T->A at 75: Decreased kinase activity. Reduced binding of S100B</li><li>K->A at 119: Loss of autophosphorylation and kinase activity</li><li>S->A at 282: Loss of autophosphorylation and kinase activity</li><li>T->A at 442: Decreased kinase activity</li></ul>	<li>G->A at 99: in a aLL TEL/AML1+ sample; somatic mutation</li>	autophosphorylation	GO:0046777	<li>kinase activity</li><li>binding</li>	<li>GO:0016301</li><li>GO:0005488</li>			<li>P02638</li><li>Q6YNR6</li><li>P41212</li><li>Q01196</li><li>P04271</li>			3
Q9Y2H2	22876	<ul><li>D->A at 460: Loss of phosphatase activity</li></ul>	<li>I->V at 453: in dbSNP:rs3736822</li><li>N->D at 997: in dbSNP:rs3188055</li>							<li>Q7M7K5</li><li>Q5X1E5</li><li>Q7MAZ9</li><li>Q8XBL4</li><li>Q7MBF4</li><li>Q5P3T0</li><li>Q88A53</li><li>Q5PC82</li><li>Q8Z3M9</li><li>Q821A6</li><li>Q5ZRX9</li><li>Q87SK9</li><li>Q9JZ88</li><li>Q9CP21</li><li>Q82U82</li><li>Q9I5V3</li><li>Q5F8K9</li><li>Q63YC3</li><li>Q8Y395</li><li>Q6LV05</li><li>Q8ZLY4</li><li>Q6FA38</li><li>Q9PDL7</li><li>Q62EU1</li><li>Q9JUB2</li><li>Q5WT58</li><li>Q665U9</li><li>Q57JQ5</li><li>Q9KPC6</li><li>Q8CWL6</li><li>Q8P5D4</li><li>Q8PPG9</li><li>P06961</li><li>P45269</li><li>Q88QU2</li><li>Q9L7A3</li><li>Q6D160</li><li>Q87DS9</li><li>Q60CQ4</li><li>Q8ZI64</li><li>Q65Q41</li><li>Q5E2K7</li><li>Q8CXX6</li>		<li>rs3188055</li><li>rs3736822</li>	3
Q9Y2I1	11188	<ul><li>R->A at 49: Inhibits targeting to endosomes</li><li>Y->A at 50: Inhibits targeting to endosomes</li></ul>	<li>I->V at 299: in dbSNP:rs9856575</li><li>A->V at 1056: in dbSNP:rs887515</li>					endosomes	GO:0005768			<li>rs9856575</li><li>rs887515</li>	3
Q9Y2K2	23387	<ul><li>T->A at 163: Prevents phosphorylation and activation by STK11 complex</li></ul>	<li>H->L at 331: in a breast cancer sample; somatic mutation</li><li>D->E at 1040: in dbSNP:rs11216163</li><li>P->R at 1078: in dbSNP:rs12225230</li><li>A->V at 1103: in a breast cancer sample; somatic mutation</li>	phosphorylation	GO:0016310					<li>Q15831</li><li>Q0GGW5</li>		<li>rs11216163</li><li>rs12225230</li>	3
Q9Y2K7	22992	<ul><li>H->A at 212: Abolishes histone demethylase activity</li></ul>								Q9UBB5			1
Q9Y2N7	64344	<ul><li>K->R at 467: No loss of ubiquitination. Reduced ubiquitination when associated with R-570</li><li>P->A at 492: Reduced ubiquitination</li><li>K->R at 570: No loss of ubiquitination. Reduced ubiquitination when associated with R-467</li></ul>	<li>Q->R at 343: in dbSNP:rs3764609</li><li>F->L at 463: in dbSNP:rs7253301</li>									<li>rs3764609</li><li>rs7253301</li>	3
Q9Y2W2	51729	<ul><li>R->A at 192: Loss of PQBP1-binding; when associated with A-197 and A-198</li><li>R->A at 197: Loss of PQBP1-binding; when associated with A-192 and A-198</li><li>K->A at 198: Loss of PQBP1-binding; when associated with A-192 and A-197</li></ul>				binding	GO:0005488			O60828			1
Q9Y2W7	30818	<ul><li>D->A at 61: Abolishes cleavage by caspase-3</li><li>D->A at 64: Abolishes cleavage by caspase-3</li></ul>	<li>A->V at 119: in dbSNP:rs35658670</li><li>A->S at 170: in a breast cancer sample; somatic mutation</li><li>D->Y at 179: in a breast cancer sample; somatic mutation</li>									rs35658670	3
Q9Y336	27180	<ul><li>R->K at 120: Loss of sialic acid binding</li></ul>	<li>K->E at 100: in dbSNP:rs2075803</li><li>S->N at 125: in dbSNP:rs200658</li><li>K->Q at 131: in dbSNP:rs16988910</li><li>N->K at 147: in dbSNP:rs273687</li><li>A->E at 315: in dbSNP:rs2258983</li><li>A->D at 316: in dbSNP:rs273688</li><li>V->A at 349: in dbSNP:rs273690</li>			binding	GO:0005488					<li>rs2075803</li><li>rs2258983</li><li>rs273687</li><li>rs273690</li><li>rs273688</li><li>rs200658</li><li>rs16988910</li>	3
Q9Y371	51100	<ul><li>V->M at 8: Abolishes interaction with BAX</li></ul>								<li>Q07815</li><li>Q07812</li><li>Q07814</li><li>O02703</li><li>P55269</li>			1
Q9Y385	51465	<ul><li>C->S at 91: Loss of catalytic activity. Slows down degradation of misfolded proteins from the ER</li></ul>	<li>G->V at 55: in dbSNP:rs8099</li><li>L->V at 229: in dbSNP:rs10502</li>			catalytic activity	GO:0003824	ER	GO:0005783			<li>rs8099</li><li>rs10502</li>	3
Q9Y397	51114	<ul><li>C->S at 169: Abolishes palmitoyltransferase activity</li></ul>				palmitoyltransferase activity	GO:0016409						1
Q9Y3B8	25996	<ul><li>D->A at 168: Abolishes activity</li></ul>											1
Q9Y3C8	51506	<ul><li>C->S at 116: Instead of the formation of an intermediate complex with a thiol ester bond between UFC1 (E2-like enzyme) and UFM1 (substrate), a stable complex with an O-ester bond is formed</li></ul>	<li>Y->C at 90: in dbSNP:rs17849932</li>			E2	GO:0004840			<li>Q5R4N5</li><li>Q5ZMK7</li><li>Q5E953</li><li>P61960</li><li>Q2KJG2</li><li>Q9Y3C8</li><li>Q4R4I2</li>		rs17849932	3
Q9Y3D6	51024	<ul><li>L->P at 14: Approximately 40% of cells display fragmented mitochondria</li><li>L->P at 42: Less than 15% of cells display fragmented mitochondria</li><li>L->P at 58: Less than 15% of cells display fragmented mitochondria</li><li>L->P at 77: Less than 15% of cells display fragmented mitochondria. Shows greatly reduced binding to DNM1L</li><li>L->P at 91: Less than 15% of cells display fragmented mitochondria. Shows greatly reduced binding to DNM1L</li><li>L->P at 110: Approximately 40% of cells display fragmented mitochondria. No change in binding to DNM1L</li><li>K->A at 149: Protein localizes to both mitochondrion and endoplasmic reticulum. Protein localizes to endoplasmic reticulum only; when associated with A-151</li><li>K->A at 151: Protein localizes to both mitochondrion and endoplasmic reticulum. Protein localizes to endoplasmic reticulum only; when associated with A-149</li></ul>				binding	GO:0005488	<li>mitochondrion</li><li>endoplasmic reticulum</li>	<li>GO:0005739</li><li>GO:0005783</li>	O00429			1
Q9Y3M8	90627	<ul><li>R->A at 699: Loss of RhoGAP activity</li><li>K->E at 736: Loss of RhoGAP activity</li><li>R->E at 740: Loss of RhoGAP activity</li></ul>	<li>T->M at 175: in dbSNP:rs9568878</li><li>K->R at 250: in dbSNP:rs3742321</li><li>R->P at 383: in dbSNP:rs34425674</li><li>N->S at 798: in dbSNP:rs35144435</li>									<li>rs34425674</li><li>rs35144435</li><li>rs3742321</li><li>rs9568878</li>	3
Q9Y3P8	27240	<ul><li>N->Q at 26: Abolishes glycosylation</li><li>Y->F at 90: Reduces interaction with GRB2. Abolishes interaction with GRB2; when associated with F-188</li><li>Y->F at 127: No effect on interaction with PTPN11 or GRB2</li><li>Y->F at 148: Reduces interaction with PTPN11, no effect on inhibition of NF-AT activation</li><li>Y->F at 169: Abolishes interaction with CSK and impairs inhibition of NF-AT activation</li><li>Y->F at 188: Reduces interaction with GRB2. Abolishes interaction with GRB2; when associated with F-90</li></ul>								<li>P62993</li><li>Q07883</li><li>Q5R4J7</li><li>P41239</li><li>Q0VBZ0</li><li>Q06124</li><li>Q90687</li><li>P41240</li>			1
Q9Y3V2	25950	<ul><li>YP->AA at 61-62: Abolishes enhancement of IKBA sumoylation</li></ul>	<li>A->V at 47: in dbSNP:rs259358</li><li>K->N at 86: in dbSNP:rs2296308</li>	sumoylation	GO:0016925					<li>Q91974</li><li>P25963</li><li>Q08353</li>		<li>rs2296308</li><li>rs259358</li>	3
Q9Y463	9149	<ul><li>K->R at 140: Abolishes kinase activity</li><li>Y->F at 271: Abolishes kinase activity; when associated with F-273</li><li>Y->F at 273: Abolishes kinase activity; when associated with F-271</li></ul>	<li>L->P at 28: in dbSNP:rs34587974</li><li>R->H at 102: in dbSNP rsrs55687541</li><li>S->G at 234: in dbSNP:rs35858874</li><li>Q->R at 275: in a metastatic melanoma sample; somatic mutation</li>			kinase activity	GO:0016301					<li>rs55687541</li><li>rs35858874</li><li>rs34587974</li>	3
Q9Y4C1	55818	<ul><li>H->Y at 1120: Abolishes histone demethylase activity</li></ul>	<li>D->H at 187: in a breast cancer sample; somatic mutation</li><li>E->K at 194: in dbSNP:rs13424350</li><li>V->I at 212: in dbSNP:rs2030259</li><li>V->E at 710: in dbSNP:rs11677451</li>							Q9UBB5		<li>rs11677451</li><li>rs2030259</li><li>rs13424350</li>	3
Q9Y4C5	9435	<ul><li>C->S at 59: Does not affect homodimerization. Abolishes homodimerization but not enzyme activity; when associated with S-39</li><li>C->S at 86: Induces migration in both homodimeric and monomeric forms. Abolishes homodimerization but not enzyme activity; when associated with S-12</li><li>R->A at 174: Induces a strong decrease in enzyme activity</li><li>R->A at 296: Induces a strong decrease in enzyme activity</li><li>K->A at 304: Loss of function</li><li>R->A at 332: Loss of function</li><li>R->A at 341: Induces a strong decrease in enzyme activity</li><li>K->A at 518: Has weak or no effect</li><li>D->A at 519: Has weak or no effect</li><li>L->A at 520: Has weak or no effect</li><li>S->A at 521: No effect</li><li>K->A at 522: No effect</li><li>T->A at 523: Has weak or no effect</li><li>L->A,T at 524: Induces a strong decrease in enzyme activity</li><li>L->A at 525: Induces a strong decrease in enzyme activity</li><li>L->T at 525: Has weak or no effect</li><li>R->A at 526: Has weak or no effect</li><li>K->A at 527: No effect</li><li>P->A at 528: Has weak or no effect</li><li>R->A at 529: No effect</li><li>L->A,T at 530: Induces a strong decrease in enzyme activity</li></ul>											1
Q9Y4H4	63940	<ul><li>A->D at 121: Restores G(i) alpha binding and GDI activity of the GoLoco 2 domain</li></ul>				<li>binding</li><li>GDI</li>	<li>GO:0005488</li><li>GO:0005092</li>						1
Q9Y4K4	11183	<ul><li>K->R at 49: Loss of kinase activity and ability to activate JNK family</li></ul>	<li>A->T at 334: in dbSNP rsrs12881869</li><li>P->L at 407: in dbSNP rsrs34818002</li><li>I->V at 446: in dbSNP rsrs55815015</li><li>N->K at 473: in dbSNP rsrs35768475</li><li>R->Q at 552: in dbSNP rsrs55997280</li><li>T->M at 633: in dbSNP rsrs17780143</li>			kinase activity	GO:0016301			<li>Q966Y3</li><li>P92208</li>		<li>rs12881869</li><li>rs34818002</li><li>rs17780143</li><li>rs35768475</li><li>rs55997280</li><li>rs55815015</li>	3
Q9Y4P1	23192	<ul><li>C->S at 74: Complete loss of protease activity</li><li>W->A at 142: Strongly reduced protease activity</li><li>R->A at 229: Strongly reduced protease activity</li><li>D->A at 278: Complete loss of protease activity</li><li>H->A at 280: Complete loss of protease activity</li></ul>	<li>Q->L at 354: in dbSNP:rs7601000</li>							<li>P19028</li><li>P24107</li><li>Q9QBZ5</li><li>Q9QBZ1</li><li>P15833</li><li>Q79666</li><li>P18042</li><li>P03362</li><li>P04024</li><li>P03363</li><li>Q8AII1</li><li>P04023</li><li>P10978</li><li>O93215</li><li>P26810</li><li>Q1A249</li><li>P03356</li><li>P03355</li><li>O41798</li><li>P20892</li><li>Q9Y6I0</li><li>P10210</li><li>Q9QBY3</li><li>P03353</li><li>P16901</li><li>Q74120</li><li>Q09SZ9</li><li>Q89928</li><li>Q73368</li><li>P84454</li><li>Q9WC63</li><li>P20825</li><li>Q9IDV9</li><li>P0C211</li><li>P51518</li><li>P0C210</li><li>Q4U0X6</li><li>P12451</li><li>P07570</li><li>P28936</li><li>O89940</li><li>P24740</li><li>P26809</li><li>P26808</li><li>Q0R5R3</li><li>Q0R5R2</li><li>P18802</li><li>P19561</li><li>P10394</li><li>P16423</li><li>P63119</li><li>P19560</li><li>Q75002</li><li>P04589</li><li>P04587</li><li>P04588</li><li>Q9QSR3</li><li>O91080</li><li>P16046</li><li>P17757</li><li>P12497</li><li>P12499</li><li>P12498</li><li>P03311</li><li>P20875</li><li>P20876</li><li>P10273</li><li>Q9WC54</li><li>P10272</li><li>P10271</li><li>P10270</li><li>P19199</li><li>P05962</li><li>P18096</li><li>P10265</li><li>P04584</li><li>P11227</li><li>P04585</li><li>Q76634</li><li>Q8I7P9</li><li>Q9Q720</li><li>P14078</li><li>P31822</li><li>P11365</li><li>P35963</li><li>P14074</li><li>P05959</li><li>P63131</li><li>P04323</li><li>P10274</li><li>P21407</li><li>O89290</li><li>P35956</li><li>P05960</li><li>P05961</li><li>Q1A267</li><li>P63122</li><li>P63123</li><li>P63124</li><li>P63125</li><li>P63120</li><li>P63121</li><li>P03366</li><li>P03367</li><li>P03369</li><li>P63127</li><li>P63128</li><li>P63129</li><li>P03370</li><li>Q77373</li><li>P27502</li><li>P21414</li>		rs7601000	3
Q9Y4X5	25820	<ul><li>QI->HV at 187-188: No loss of interaction with UBE2L3</li><li>I->A at 188: Loss of interaction with UBE2L3</li><li>C->A,H at 208: Loss of interaction with UBE2L3</li><li>Y->A at 258: No loss of interaction with UBE2L3</li></ul>								<li>P68036</li><li>Q3MHP1</li>			1
Q9Y572	11035	<ul><li>K->A at 50: Abolishes kinase activity</li><li>K->D at 50: Abolishes kinase activity</li></ul>	<li>E->V at 260: in dbSNP:rs7153640</li><li>T->M at 300: in dbSNP:rs34106261</li><li>P->Q at 492: in dbSNP:rs3212254</li>			kinase activity	GO:0016301					<li>rs7153640</li><li>rs3212254</li><li>rs34106261</li>	3
Q9Y5A7	51667	<ul><li>A->V at 448: No effect on NEDD8-binding</li><li>L->A at 453: Partial inhibition of NEDD8-binding</li><li>L->A at 464: Partial inhibition of NEDD8-binding</li><li>L->A at 468: Partial inhibition of NEDD8-binding</li><li>L->A at 587: Suppression of NEDD8-binding; when associated with A-464; A-468 and A-591. Suppression of NEDD8-buster function; when associated with A-591</li><li>L->A at 591: Suppression of NEDD8-binding; when associated with A-464; A-468 and A-587. Suppression of NEDD8-buster function; when associated with A-587</li></ul>				binding	GO:0005488			<li>Q15843</li><li>Q9SHE7</li><li>P0C031</li><li>P0C030</li><li>Q4PLJ0</li><li>P61282</li><li>P0C032</li>			1
Q9Y5K5	51377	<ul><li>C->A at 88: Abolishes enzymatic activity</li></ul>	<li>I->F at 197</li>										3
Q9Y5P4	10087	<ul><li>S->A at 132: Abolishes the phosphorylation. Strongly reduces the interaction with phosphatidylinositol 4-phosphate. Increases the ceramide transfer activity</li><li>D->A at 324: Impairs the endoplasmic reticulum-to-Golgi ceramide trafficking and abolishes the interaction with VAPA</li></ul>	<li>G->E at 67: in LY-A cell line; destroyes the phosphatidylinositol 4-phosphate-binding activity</li>	phosphorylation	GO:0016310	phosphate-binding	GO:0042301	endoplasmic reticulum	GO:0005783	<li>Q9P0L0</li><li>Q5R601</li>			3
Q9Y5Q5	10699	<ul><li>S->A at 985: Loss of activity</li></ul>	<li>Y->C at 13: in dbSNP:rs2289433</li><li>R->H at 525: in dbSNP:rs11934749</li>									<li>rs2289433</li><li>rs11934749</li>	3
Q9Y5S9	9939	<ul><li>EE->RR at 82-83: Impaired nonsense-mediated decay activity</li><li>LDR->RDE at 106-108: Complete loss of nonsense-mediated decay activity</li><li>L->R at 118: Complete loss of nonsense-mediated decay activity</li><li>CF->KA at 149-150: Complete loss of nonsense-mediated decay activity</li></ul>											1
Q9Y5T5	10600	<ul><li>C->S at 205: Loss of enzyme activity</li></ul>	<li>Q->H at 141: in dbSNP:rs2274802</li>									rs2274802	3
Q9Y5U4	51141	<ul><li>D->A at 149: Loss of ability to suppress the cleavage of SREBP2 and to accelerate the degradation of HMGCR</li></ul>								<li>Q60429</li><li>P16393</li><li>P00347</li><li>Q5R6N3</li><li>Q1W675</li><li>Q12772</li><li>P04035</li><li>Q29512</li><li>P09610</li>			1
Q9Y5Y6	6768	<ul><li>H->A at 656: Abolishes catalytic activity</li><li>D->A at 711: Abolishes catalytic activity</li><li>S->A at 805: Abolishes catalytic activity</li></ul>	<li>M->I at 285: in dbSNP:rs7126904</li><li>R->S at 381: in dbSNP:rs17667603</li><li>G->R at 827: in ARIH, MIM: 610765</li>			catalytic activity	GO:0003824				Ichthyosis autosomal recessive with hypotrichosis (ARIH) [MIM:610765]	<li>rs7126904</li><li>rs17667603</li>	3
Q9Y662	9953	<ul><li>K->A at 146: Reduces activity by 99.6%</li><li>K->A at 147: Reduces activity by 99.6%</li><li>R->E at 151: Reduces activity by 99.8%</li><li>E->Q at 155: Reduces activity by 17%</li><li>R->S at 158: Reduces activity by 44%</li><li>E->Q at 169: Reduces activity by 99.9%</li><li>H->F at 171: Loss of activity</li><li>D->N at 174: Reduces activity by 99%</li><li>R->E at 175: Reduces activity by 32%</li><li>K->A at 179: Reduces activity by 99.5%</li><li>K->A at 200: Reduces activity by 99.9%</li><li>Q->A at 240: Reduces activity by 99.6%</li><li>H->A at 347: No effect</li><li>K->A at 351: Reduces activity by 99.8%</li><li>K->A at 353: Reduces activity by 99.9%</li><li>R->E at 355: Reduces activity by 99.2%</li></ul>											1
Q9Y663	9955	<ul><li>K->A at 161: 99.6% loss of enzymatic activity</li><li>K->A at 162: 99.6% loss of enzymatic activity; no HSV1 entry activity</li><li>R->E at 166: 99.8% loss of enzymatic activity</li><li>E->Q at 170: 17% loss of enzymatic activity</li><li>R->S at 173: 44.1% loss of enzymatic activity</li><li>G->A at 182: No effect on enzymatic activity</li><li>E->Q at 184: 99.9% loss of enzymatic activity</li><li>H->F at 186: Abolishes enzymatic activity</li><li>D->N at 189: 99.1% loss of enzymatic activity</li><li>R->E at 190: 32% loss of enzymatic activity</li><li>K->A at 194: 99.5% loss of enzymatic activity</li><li>K->A at 215: 99.9% loss of enzymatic activity</li><li>S->A at 218: 23.3% loss of enzymatic activity</li><li>E->Q at 224: 47.6% loss of enzymatic activity</li><li>Q->A at 255: 99.6% loss of enzymatic activity</li><li>K->A at 259: 48.3% loss of enzymatic activity</li><li>I->A at 288: 65% loss of enzymatic activity</li><li>K->A at 293: 33.6% loss of enzymatic activity</li><li>H->A at 362: No effect on enzymatic activity</li><li>G->A at 365: 43% loss of enzymatic activity</li><li>K->A at 366: 99.8% loss of enzymatic activity</li><li>K->A at 368: 99.9% loss of enzymatic activity</li><li>R->E at 370: 99.2% loss of enzymatic activity</li></ul>								Q02887			1
Q9Y678	22820	<ul><li>W->S at 776: Loss of interaction with ZNF289/ARFGAP2</li></ul>	<li>M->T at 681: in dbSNP:rs15648</li>									rs15648	3
Q9Y691	10242	<ul><li>FIW->GGG at 2-4: Abolishes inactivation of KCNMA1 channel</li></ul>								<li>Q8AYS8</li><li>O18866</li><li>O18867</li><li>Q28204</li><li>Q28265</li><li>Q9BG98</li><li>Q12791</li>			1
Q9Y6B2	23741	<ul><li>L->S at 178: Abolishes RB1 binding</li><li>C->G at 180: Abolishes RB1 binding</li><li>E->Q at 182: Abolishes RB1 binding</li></ul>				binding	GO:0005488			P06400			1
Q9Y6E0	8428	<ul><li>T->A at 18: Loss of phosphorylation by PKA</li></ul>	<li>A->V at 414: in dbSNP rsrs55953606</li><li>L->I at 426: in dbSNP rsrs55897869</li>	phosphorylation	GO:0016310	PKA	GO:0004691					<li>rs55953606</li><li>rs55897869</li>	3
Q9Y6H6	10008	<ul><li>D->N at 90: Decreases current 4-fold in KCNH2/KCNE3 channel</li></ul>	<li>R->H at 83: in HOKPP and TPP; alters voltage dependence, lowers current and diminishes open probability in KCNC4/KCNE3 channel; lowers current in KCNQ1/KCNE3 channel: in dbSNP rsrs17215437, MIM: 188580</li>							<li>Q8SSL0</li><li>P51787</li><li>P31688</li><li>P31678</li><li>Q9Y6H6</li><li>O97531</li><li>Q9PT84</li><li>Q9L894</li><li>P10463</li><li>Q9MYS6</li><li>Q9TSZ3</li><li>P55611</li><li>O73925</li><li>P78875</li><li>O70344</li><li>Q9TTJ7</li><li>O08703</li><li>Q03721</li><li>Q12809</li><li>Q8WNY2</li><li>Q9TUI4</li>	<li>Thyrotoxic hypokalemic periodic paralysis (TPP) [MIM:188580]</li><li>Periodic paralysis hypokalemic (HOKPP) [MIM:170400]</li>	rs17215437	3
Q9Y6I3	29924	<ul><li>S->A at 357: Abolishes phosphorylation by CDC2</li><li>S->D at 357: Abolishes phosphorylation by CDC2 and reduces REPS2 binding</li></ul>		phosphorylation	GO:0016310	binding	GO:0005488			<li>Q9W739</li><li>Q9DGA2</li><li>Q9DGA5</li><li>P19026</li><li>Q5RCH1</li><li>Q9DG98</li><li>P06493</li><li>P48734</li><li>P43290</li><li>P23111</li><li>Q8NFH8</li><li>P13863</li><li>Q04770</li><li>P52389</li><li>P15436</li><li>P24100</li><li>P51958</li><li>P54119</li><li>Q41639</li><li>P93101</li><li>Q9DGD3</li>			1
Q9Y6J0	23523	<ul><li>L->A,K,W at 2172: Abrogates binding to MEF2B</li></ul>	<li>A->T at 56: in dbSNP:rs5760185</li><li>D->N at 225: in dbSNP:rs17004823</li><li>S->R at 517: in dbSNP:rs9624393</li><li>R->S at 660: in dbSNP:rs9624395</li><li>R->Q at 853: in dbSNP:rs17854874</li><li>Q->E at 921: in dbSNP:rs12166151</li>			binding	GO:0005488			Q02080		<li>rs17854874</li><li>rs12166151</li><li>rs17004823</li><li>rs9624393</li><li>rs9624395</li><li>rs5760185</li>	3
Q9Y6J6	9992	<ul><li>K->H at 75: Increases tail current in KCNH2/KCNE2 channel</li></ul>	<li>T->A at 8: in dbSNP:rs2234916</li><li>T->I at 8: in dbSNP:rs35759083</li><li>Q->E at 9: in LQT6; impedes activation and increases sensitivity to macrolide antibiotics; may lower current in KCNQ1/KCNE2 channel; dbSNP:rs16991652, MIM: 603796</li><li>R->C at 27: in ATFB4; gain-of-function mutation associated with the initiation and/or maintenance of AF, MIM: 611493</li><li>M->T at 54: in LQT6; forms I, MIM: 603796</li><li>I->T at 57: in LQT6; may affect KCNQ1/KCNE2 channel, MIM: 603796</li><li>F->L at 60: in LQT6; may be a rare polymorphism; dbSNP:rs16991654, MIM: 603796</li><li>V->M at 65: in LQT6, MIM: 603796</li><li>A->V at 66: in dbSNP:rs16991656, MIM: 603796</li><li>R->W at 77: in LQT6, MIM: 603796</li>							<li>P51787</li><li>Q9Y6J6</li><li>O97531</li><li>Q9PT84</li><li>Q9MYS6</li><li>Q9TSZ3</li><li>O73925</li><li>O70344</li><li>Q9TTJ7</li><li>O08703</li><li>Q9BDR0</li><li>Q12809</li><li>Q8WNY2</li><li>Q9TUI4</li>	<li>Familial atrial fibrillation type 4 (ATFB4) [MIM:611493]</li><li>Long QT syndrome type 6 (LQT6) [MIM:603796]</li>	<li>rs35759083</li><li>rs16991656</li><li>rs16991654</li><li>rs2234916</li><li>rs16991652</li>	3
Q9Y6K0	10390	<ul><li>K->M at 138: Induces a reduction in both cholinephosphotransferase and ethanolaminephosphotransferase activities</li><li>N->G at 144: No effect</li><li>S->Q,C at 146: No effect</li><li>G->C,S,A at 156: Induces a reduction in cholinephosphotransferase activity and abolishes ethanolaminephosphotransferase activity</li><li>T->A at 214: Alters the profile of diacylglycerol utilization and results in modest reduction in enzyme activity</li><li>E->A,D at 215: Induces a strong reduction in enzyme activity without altering diacylglycerol specificity</li><li>E->Q at 215: Induces a strong reduction in enzyme activity and alters diacylglycerol specificity</li><li>V->A at 216: Alters the profile of diacylglycerol utilization and results in modest reduction in enzyme activity</li><li>I->A at 221: Alters the profile of diacylglycerol utilization and results in modest reduction in enzyme activity</li><li>L->A at 226: Does not affect either the enzyme activity or the diacylglycerol specificity</li><li>V->A at 228: Does not affect either the enzyme activity or the diacylglycerol specificity</li></ul>								P22140			1
Q9Y6K9	8517	<ul><li>S->A at 68: Increases formation of homodimers</li><li>S->E at 68: Abolishes interaction with IKBKB; abolishes TNF-alpha induced NF-kappa-B activity</li><li>S->A at 85: Decreases ubiquitination and abolishes nuclear export</li><li>K->A at 277: Abolishes sumoylation and IKK activation; when associated with A-309</li><li>K->A at 309: Abolishes sumoylation and IKK activation; when associated with A-277</li><li>K->R at 399: Abolishes ubiquitination mediated by BCL10</li></ul>	<li>E->K at 57: in IP; shows the same luciferase activity as the control, MIM: 308300</li><li>Missing  at 90: in IP; only 46.3% of the activation obtained with the wild-type protein, MIM: 308300</li><li>D->N at 113: in IP; shows the same luciferase activity as the control, MIM: 308300</li><li>R->W at 123: in IP; shows the same luciferase activity as the control, MIM: 308300</li><li>L->R at 153: in EDAXID, MIM: 300291</li><li>R->G at 173: in IPD2, MIM: 300640</li><li>R->P at 175: in EDAXID, MIM: 300291</li><li>L->P at 227: in EDAXID, MIM: 300291</li><li>A->G at 288: in EDAXID, MIM: 300291</li><li>D->N at 311: in EDAXID, MIM: 300291</li><li>E->A at 315: in AMCBX1, MIM: 300636</li><li>R->Q at 319: in AMCBX1, MIM: 300636</li><li>A->P at 323: in IP; diminishes interaction with TRAF6 and polyubiquitination, MIM: 308300</li><li>D->V at 406: in EDAXID, MIM: 300291</li><li>M->V at 407: in IP, MIM: 308300</li><li>C->F at 417: in EDAXID, MIM: 300291</li><li>C->R at 417: in EDAXID, MIM: 300291</li><li>C->Y at 417: in EDAXID, MIM: 300291</li>	<li>sumoylation</li><li>nuclear export</li>	<li>GO:0016925</li><li>GO:0051168</li>					<li>Q8WNR1</li><li>P13296</li><li>O95999</li><li>Q8HZD9</li><li>Q95KV0</li><li>O14920</li><li>Q8JFG3</li><li>P36939</li><li>P59684</li><li>P01375</li><li>O77764</li><li>Q8MKG8</li><li>Q2MH05</li><li>P04924</li><li>P33620</li><li>Q26304</li><li>P23563</li><li>P79337</li><li>Q27757</li><li>O35734</li><li>Q06599</li><li>Q9BEA1</li><li>P48094</li><li>P19101</li><li>Q75N23</li><li>Q01158</li><li>Q9Y4K3</li><li>Q1G1A2</li><li>P16599</li><li>P08659</li><li>P59695</li><li>P59694</li><li>P59693</li><li>Q539C2</li><li>P51435</li><li>P06804</li><li>P29553</li><li>Q19LH4</li><li>O77510</li><li>P51742</li><li>P23383</li><li>P51743</li><li>P13129</li><li>Q1WM27</li><li>P79374</li>	<li>Incontinentia pigmenti (IP) [MIM:308300]</li><li>Recurrent isolated invasive pneumococcal disease type 2 (IPD2) [MIM:300640]</li><li>X-linked familial atypical micobacteriosis type 1 (AMCBX1) [MIM:300636]</li><li>Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAXID) [MIM:300291]</li>		3
Q9Y6M7	9497	<ul><li>DD->NN at 1135-1136: Loss of interaction with CA2. Loss of regulation by CA2</li><li>DDD->NNN at 1163-1165: No effect on interaction with CA2. No effect on regulation by CA2</li><li>L->G at 1214: Loss of interaction with ATP6V1B1</li></ul>	<li>E->K at 326: in dbSNP:rs3755652</li>							<li>P31407</li><li>P00922</li><li>P24258</li><li>P00921</li><li>P07630</li><li>P42737</li><li>Q8UWA5</li><li>P00918</li><li>P15313</li><li>P00919</li>		rs3755652	3
Q9Y6Q9	8202	<ul><li>K->Q at 616: Strongly reduces acetylation by CREBBP</li><li>KK->QQ at 619-620: Abolishes acetylation by CREBBP</li><li>K->Q at 647: Does not affect acetylation by CREBBP</li><li>K->Q at 681: Does not affect acetylation by CREBBP</li><li>K->Q at 687: Does not affect acetylation by CREBBP</li><li>K->Q at 700: Does not affect acetylation by CREBBP</li><li>K->Q at 708: Does not affect acetylation by CREBBP</li></ul>	<li>R->C at 218: in dbSNP:rs6094752</li><li>L->F at 369: in dbSNP:rs6094756</li><li>G->R at 460: in dbSNP:rs1052765</li><li>P->S at 559: in dbSNP:rs2230781</li><li>Q->H at 586: in dbSNP:rs2230782</li><li>S->A at 777: in dbSNP:rs2230783</li><li>Missing at 1248-1250</li>							Q92793		<li>rs6094756</li><li>rs1052765</li><li>rs2230782</li><li>rs6094752</li><li>rs2230781</li><li>rs2230783</li>	3
Q9Y6R1	8671	<ul><li>T->A at 49: Loss of conductance regulation by cAMP; isoform 1</li><li>T->D at 49: Loss of conductance regulation by cAMP; isoform 1</li><li>E->R at 135: Mistargeting and altered function</li><li>Y->F at 477: Moderate reduction of the sodium-dependent ion transport activity</li><li>D->N at 493: Prevents membrane targeting</li><li>A->K at 494: Prevents membrane targeting</li><li>E->Q at 503: Strong reduction of the sodium-dependent ion transport activity</li><li>S->L at 504: Prevents membrane targeting</li><li>E->Q at 536: Prevents membrane targeting</li><li>E->N at 552: Prevents membrane targeting</li><li>R->D at 554: Prevents membrane targeting</li><li>R->N at 582: Moderate reduction of the sodium-dependent ion transport activity</li><li>R->Q at 582: Strong reduction of the sodium-dependent ion transport activity</li><li>E->Q at 586: Moderate reduction of the sodium-dependent ion transport activity</li><li>D->N at 599: Moderate reduction of the sodium-dependent ion transport activity</li><li>A->T at 600: Strong reduction of the sodium-dependent ion transport activity</li><li>K->Q at 602: Moderate reduction of the sodium-dependent ion transport activity</li><li>K->Q at 603: Strong reduction of the sodium-dependent ion transport activity</li><li>D->R at 691: Strong reduction of the sodium-dependent ion transport activity</li><li>F->M at 700: Strong reduction of the sodium-dependent ion transport activity</li><li>K->E,N,Q at 711: Strong reduction of the sodium-dependent ion transport activity</li><li>K->R at 711: No effect on the sodium-dependent ion transport activity</li><li>K->N at 712: Strong reduction of the sodium-dependent ion transport activity</li><li>K->Q at 714: Moderate reduction of the sodium-dependent ion transport activity</li><li>T->N at 715: Strong reduction of the sodium-dependent ion transport activity</li><li>T->G at 721: Moderate reduction of the sodium-dependent ion transport activity</li><li>R->E at 724: Strong reduction of the sodium-dependent ion transport activity</li><li>K->N at 725: Strong reduction of the sodium-dependent ion transport activity</li><li>S->G at 728: Strong reduction of the sodium-dependent ion transport activity</li><li>D->N,R at 729: Strong reduction of the sodium-dependent ion transport activity</li><li>D->K,N at 743: Prevents membrane targeting</li><li>D->N at 749: Moderate reduction of the sodium-dependent ion transport activity</li><li>K->Q at 752: Prevents membrane targeting</li><li>R->Q at 766: Moderate reduction of the sodium-dependent ion transport activity</li><li>G->T at 767: Alters interaction with CA4</li><li>E->N at 775: Moderate reduction of the sodium-dependent ion transport activity</li><li>D->E,N,R at 798: Strong reduction of the sodium-dependent ion transport activity</li><li>RK->NN at 808-809: Strong reduction of the sodium-dependent ion transport activity</li><li>KK->NN at 814-815: Moderate reduction of the sodium-dependent ion transport activity</li><li>H->D,N,S,R at 820: Moderate reduction of the sodium-dependent ion transport activity</li><li>D->N at 822: Moderate reduction of the sodium-dependent ion transport activity</li><li>H->N at 851: Prevents membrane targeting</li><li>D->N at 853: Moderate reduction of the sodium-dependent ion transport activity</li><li>ETE->MSK at 858-860: Moderate reduction of the sodium-dependent ion transport activity</li><li>EQR->QQQ at 875-877: Prevents membrane targeting</li><li>E->Q at 875: Strong reduction of the sodium-dependent ion transport activity</li><li>K->E at 898: Strong reduction of the sodium-dependent ion transport activity</li><li>RLK->NLN at 925-927: Prevents membrane targeting</li><li>R->E at 948: Strong reduction of the sodium-dependent ion transport activity</li><li>R->E at 949: Moderate reduction of the sodium-dependent ion transport activity</li><li>H->D at 951: Moderate reduction of the sodium-dependent ion transport activity</li><li>H->N,R at 951: Prevents membrane targeting</li><li>K->Q at 968: Moderate reduction of the sodium-dependent ion transport activity</li><li>R->E,N at 987: Moderate reduction of the sodium-dependent ion transport activity</li><li>L->N at 1002: Partial loss of interaction with CA2</li><li>D->N at 1003: Abolishes interaction with CA2</li><li>D->N at 1004: Partial loss of interaction with CA2</li><li>S->A at 1026: Prevents phosphorylation by PKA. Loss of regulation by cAMP of the transporter stoichiometry</li><li>S->D at 1026: Loss of regulation by cAMP of the transporter stoichiometry. Shifts transporter stoichiometry from 3</li><li>DNDD->NNNN at 1030-1033: Abolishes interaction with CA2</li><li>D->N at 1030: Loss of regulation by cAMP of the transporter stoichiometry. Abolishes interaction with CA2</li><li>D->N at 1032: Loss of regulation by cAMP of the transporter stoichiometry. Partial loss of interaction with CA2</li><li>D->N at 1033: No effect on regulation by cAMP of the transporter stoichiometry. Partial loss of interaction with CA2</li><li>F->A at 1057: Targeting to apical membrane</li></ul>	<li>R->S at 342: in proximal renal tubular acidosis with ocular abnormalities; mistargeting and altered function, MIM: 604278</li><li>S->L at 471: in proximal renal tubular acidosis with ocular abnormalities; mistargeting to the apical membrane and altered function, MIM: 604278</li><li>T->S at 529: in proximal renal tubular acidosis with ocular abnormalities; mistargeting and altered function, MIM: 604278</li><li>R->H at 554: in proximal renal tubular acidosis with ocular abnormalities; mistargeting and altered function, MIM: 604278</li><ul><li>R->D at 554: Prevents membrane targeting</li></ul><li>A->V at 843: in proximal renal tubular acidosis with ocular abnormalities; altered function, MIM: 604278</li></ul><li>R->C at 925: in proximal renal tubular acidosis with ocular abnormalities; altered function, MIM: 604278</li></ul>	<li>phosphorylation</li><li>ion transport</li>	<li>GO:0016310</li><li>GO:0006811</li>	PKA	GO:0004691	membrane	GO:0016020	<li>P48283</li><li>P00922</li><li>P24258</li><li>P00921</li><li>P07630</li><li>Q95323</li><li>P42737</li><li>Q8UWA5</li><li>P00918</li><li>P22748</li><li>P00919</li>	Proximal renal tubular acidosis with ocular abnormalities [MIM:604278]		4
Q9Y6R4	4216	<ul><li>K->R at 1371: Loss of activity</li></ul>	<li>I->T at 294: in dbSNP rsrs35842248</li><li>V->I at 335: in dbSNP rsrs35730939</li><li>R->H at 566: in dbSNP rsrs55765351</li><li>Q->H at 584: in dbSNP rsrs34018542</li><li>H->P at 906: in dbSNP rsrs35533223</li><li>E->Q at 1412: in an ovarian serous carcinoma sample; somatic mutation</li><li>A->V at 1491: in dbSNP rsrs41267837</li>									<li>rs41267837</li><li>rs55765351</li><li>rs35842248</li><li>rs35533223</li><li>rs35730939</li><li>rs34018542</li>	3
Q9Y6Y0	10625	<ul><li>V->M at 198: Significant inhibition of interaction with AHR; partial decrease of AHR signaling induced by IVNS1ABP</li><li>E->K at 288: Significant inhibition of interaction with AHR; partial decrease of AHR signaling induced by IVNS1ABP</li></ul>								<li>O02747</li><li>P35869</li><li>Q95LD9</li>			1
Q9Y6Y9	23643	<ul><li>C->Y at 95: Abolishes LPS-response</li></ul>	<li>G->R at 56: in dbSNP:rs6472812</li><li>P->S at 157: in dbSNP:rs11466004</li>									<li>rs11466004</li><li>rs6472812</li>	3
A0AV02	84561		<li>R->C at 181: in dbSNP:rs2993631</li><li>P->L at 266: in dbSNP:rs863642</li><li>K->R at 541: in dbSNP:rs6773138</li><li>R->Q at 664: in dbSNP:rs2981482</li>									<li>rs6773138</li><li>rs2981482</li><li>rs2993631</li><li>rs863642</li>	2
A0AVF1	79989		<li>D->N at 310: in dbSNP:rs13225917</li>									rs13225917	2
A0AVI4	92305		<li>L->I at 83: in dbSNP:rs798752</li>									rs798752	2
A0FGR8	57488		<li>C->S at 210: in dbSNP:rs13233513</li><li>S->G at 638: in dbSNP:rs2305473</li>									<li>rs13233513</li><li>rs2305473</li>	2
A0FGR9	83850		<li>P->Q at 246: in dbSNP:rs17857138</li><li>G->R at 416: in dbSNP:rs6772467</li><li>G->R at 590: in dbSNP:rs10935282</li>									<li>rs6772467</li><li>rs10935282</li><li>rs17857138</li>	2
A0JNW5	23074		<li>S->L at 1147: in dbSNP:rs7296162</li><li>I->V at 1175: in dbSNP:rs17029945</li>									<li>rs17029945</li><li>rs7296162</li>	2
A0PJK1	125206		<li>A->V at 522: in dbSNP:rs12604020</li>									rs12604020	2
A0PJW6	79064		<li>T->A at 28: in dbSNP:rs2584918</li><li>V->G at 196: in dbSNP:rs11827177</li>									<li>rs2584918</li><li>rs11827177</li>	2
A0PJW8	92196		<li>L->P at 60: in dbSNP:rs9869</li><li>A->T at 66: in dbSNP:rs10497199</li>									<li>rs10497199</li><li>rs9869</li>	2
A0PJX0	130106		<li>H->R at 181: in dbSNP:rs935172</li>									rs935172	2
A0PJX2	140711		<li>G->R at 102: in dbSNP:rs3748460</li>									rs3748460	2
A0PJX4	152573		<li>W->C at 13: in dbSNP:rs11733156</li>									rs11733156	2
A0PJX8	388595		<li>R->H at 284: in dbSNP:rs11580250</li>									rs11580250	2
A0PK11	645104		<li>L->V at 113: in dbSNP:rs13147559</li><li>A->T at 153: in dbSNP:rs2597791</li>									<li>rs2597791</li><li>rs13147559</li>	2
A1A4F0	152078		<li>V->L at 4: in dbSNP:rs7616293</li>									rs7616293	2
A1A4S6	79658		<li>P->S at 488: in dbSNP:rs17024215</li><li>M->V at 684: in dbSNP:rs2276932</li>									<li>rs17024215</li><li>rs2276932</li>	2
A1A4Y4			<li>E->D at 17</li><li>T->K at 94</li>										2
A1A519	340069		<li>P->S at 173: in dbSNP:rs328694</li>									rs328694	2
A1A5B4	338440		<li>F->L at 93: in dbSNP:rs7395065</li><li>I->V at 391: in dbSNP:rs10794324</li><li>C->R at 399: in dbSNP:rs10794323</li>									<li>rs10794323</li><li>rs10794324</li><li>rs7395065</li>	2
A1A5D9	146439		<li>R->Q at 273: in dbSNP:rs2244494</li>									rs2244494	2
A1E959	54959		<li>I->T at 222: in dbSNP:rs3196714</li><li>E->D at 269: in a colorectal cancer sample; somatic mutation</li>									rs3196714	2
A1IGU5	389337		<li>M->L at 421: in dbSNP:rs4629585</li><li>P->L at 489: in dbSNP:rs9324624</li><li>S->R at 518: in dbSNP:rs7732714</li><li>P->T at 586: in dbSNP:rs3733662</li><li>M->V at 604: in dbSNP:rs1135093</li>									<li>rs3733662</li><li>rs1135093</li><li>rs7732714</li><li>rs4629585</li><li>rs9324624</li>	2
A1KZ92	137902		<li>I->T at 343: in dbSNP:rs7833909</li><li>R->Q at 583: in dbSNP:rs16916235</li><li>D->A at 616: in dbSNP:rs16916207</li><li>V->M at 981: in dbSNP:rs2977020</li><li>V->D at 1327: in dbSNP:rs11774588</li><li>R->K at 1399: in dbSNP:rs7827446</li><li>D->E at 1452: in dbSNP:rs1052704</li>									<li>rs7833909</li><li>rs2977020</li><li>rs16916207</li><li>rs7827446</li><li>rs11774588</li><li>rs1052704</li><li>rs16916235</li>	2
A1L0T0	10994		<li>N->D at 374: in dbSNP:rs17856373</li>									rs17856373	2
A1L157	441631		<li>V->A at 190: in dbSNP:rs2075333</li>									rs2075333	2
A1L390	26030		<li>R->W at 1036: in dbSNP:rs229649</li>									rs229649	2
A1L453	339501		<li>M->V at 204: in dbSNP:rs9426581</li>									rs9426581	2
A1L4K1	123722		<li>K->T at 333: in dbSNP:rs4779061</li><li>E->K at 720: in dbSNP:rs1108134</li>									<li>rs4779061</li><li>rs1108134</li>	2
A1L4L8	153770		<li>C->S at 11: in dbSNP:rs12187913</li>									rs12187913	2
A1X283			<li>Y->F at 101: in dbSNP:rs6880739</li>									rs6880739	2
A2A288	340152		<li>P->L at 53: in dbSNP:rs7747948</li><li>K->R at 106: in some sporadic lung cancer sample; appears to cause loss of tumor suppressor activity</li>									rs7747948	2
A2A2Y4	257019		<li>D->Y at 485: in dbSNP:rs4877747</li>									rs4877747	2
A2A368			<li>L->F at 38: in dbSNP:rs1410961</li><li>C->Y at 128: in dbSNP:rs1410962</li><li>H->R at 161: in dbSNP:rs5973488</li><li>M->K at 248: in dbSNP:rs4829391</li><li>M->V at 248: in dbSNP:rs4829390</li>									<li>rs5973488</li><li>rs1410962</li><li>rs1410961</li><li>rs4829390</li><li>rs4829391</li>	2
A2A3K4	138639		<li>L->Q at 571: in dbSNP:rs16909677</li>									rs16909677	2
A2A3L6			<li>E->G at 231: in dbSNP:rs6682716</li><li>P->A at 532: in dbSNP:rs17392348</li><li>N->S at 550: in dbSNP:rs12090808</li>									<li>rs6682716</li><li>rs17392348</li><li>rs12090808</li>	2
A2CJ06	391475		<li>Y->C at 241: in dbSNP:rs16838593</li><li>Q->K at 474: in dbSNP:rs2115591</li>									<li>rs2115591</li><li>rs16838593</li>	2
A2IDD5	124093		<li>W->R at 252: in dbSNP:rs2071950</li>									rs2071950	2
A2PYH4	164045		<li>S->P at 115: in dbSNP:rs11165778</li><li>I->V at 117: in dbSNP:rs282009</li><li>I->V at 939: in dbSNP:rs11584478</li>									<li>rs11165778</li><li>rs282009</li><li>rs11584478</li>	2
A2RRH5	253769		<li>L->P at 133: in dbSNP:rs4236176</li><li>V->L at 393: in dbSNP:rs35895089</li><li>R->H at 437: in dbSNP:rs3800544</li><li>P->L at 470: in dbSNP:rs34313252</li><li>A->V at 697: in dbSNP:rs9396946</li>									<li>rs34313252</li><li>rs3800544</li><li>rs35895089</li><li>rs9396946</li><li>rs4236176</li>	2
A2RTY3	256957		<li>I->M at 330: in a breast cancer sample; somatic mutation</li><li>S->F at 480: in dbSNP:rs2306630</li>									rs2306630	2
A2RU30	9840		<li>E->K at 496: in dbSNP:rs997173</li>									rs997173	2
A2RU48	440087		<li>C->R at 49: in dbSNP:rs11609202</li><li>K->R at 75: in dbSNP:rs2241221</li>									<li>rs11609202</li><li>rs2241221</li>	2
A2RUB1			<li>M->L at 145: in dbSNP:rs8073475</li><li>N->T at 154: in dbSNP:rs9907151</li>									<li>rs8073475</li><li>rs9907151</li>	2
A2RUB6	285331		<li>Q->R at 266: in dbSNP:rs1491170</li><li>Q->R at 383: in dbSNP:rs1491170</li><li>R->Q at 460: in dbSNP:rs7637449</li><li>E->K at 592: in dbSNP:rs4681904</li>									<li>rs4681904</li><li>rs7637449</li><li>rs1491170</li>	2
A2RUC4	129450		<li>S->G at 50: in dbSNP:rs10497844</li>									rs10497844	2
A2RUH7	343263		<li>N->D at 269: in dbSNP:rs629001</li>									rs629001	2
A2RUQ5	400591		<li>G->R at 98: in dbSNP:rs58529418</li><li>R->K at 155: in dbSNP:rs887230</li>									<li>rs887230</li><li>rs58529418</li>	2
A2RUS2	22898		<li>S->N at 143: in dbSNP:rs307761</li><li>Q->R at 364: in dbSNP:rs11997191</li>									<li>rs11997191</li><li>rs307761</li>	2
A2RUT3	440955		<li>P->T at 61: in dbSNP:rs9834639</li>									rs9834639	2
A2RUU4	340204		<li>F->S at 15: in dbSNP:rs34109614</li>									rs34109614	2
A2VDJ0	23240		<li>I->V at 604: in dbSNP:rs7669418</li><li>M->T at 645: in dbSNP:rs17370297</li><li>S->Y at 1110: in dbSNP:rs755078</li><li>N->S at 1254: in dbSNP:rs35018723</li><li>A->P at 1392: in dbSNP:rs35543386</li>									<li>rs7669418</li><li>rs17370297</li><li>rs35543386</li><li>rs35018723</li><li>rs755078</li>	2
A2VEC9	23145		<li>Q->R at 146: in dbSNP:rs709061</li><li>V->M at 298: in dbSNP:rs17754559</li><li>L->P at 1273: in dbSNP:rs709060</li><li>S->I at 4033: in dbSNP:rs1005603</li>									<li>rs709060</li><li>rs709061</li><li>rs17754559</li><li>rs1005603</li>	2
A3KMH1	23078		<li>R->H at 165: in dbSNP:rs9562362</li><li>M->T at 383: in dbSNP:rs3742262</li><li>G->R at 408: in dbSNP:rs17062601</li><li>R->G at 660: in dbSNP:rs9562353</li><li>E->K at 1300: in dbSNP:rs2274810</li>									<li>rs17062601</li><li>rs9562362</li><li>rs9562353</li><li>rs2274810</li><li>rs3742262</li>	2
A3KN83	55206		<li>T->S at 634: in a breast cancer sample; somatic mutation</li><li>S->N at 728: in dbSNP:rs1060105</li><li>E->K at 889: in a breast cancer sample; somatic mutation</li><li>S->C at 997: in a breast cancer sample; somatic mutation</li>									rs1060105	2
A4D0S4	22798		<li>M->T at 44: in dbSNP:rs35644375</li><li>H->Y at 234: in dbSNP:rs2074749</li><li>V->F at 591: in dbSNP:rs9690688</li><li>N->S at 866: in dbSNP:rs2240445</li><li>T->N at 1350: in dbSNP:rs10260756</li><li>H->Y at 1510: in dbSNP:rs1627354</li><li>R->S at 1612: in dbSNP:rs2528693</li>									<li>rs1627354</li><li>rs10260756</li><li>rs2074749</li><li>rs2528693</li><li>rs9690688</li><li>rs2240445</li><li>rs35644375</li>	2
A4D0V7	79974		<li>I->T at 326: in dbSNP:rs17143165</li><li>A->G at 551: in dbSNP:rs41281692</li><li>E->G at 708: in dbSNP:rs35793694</li><li>K->T at 949: in dbSNP:rs798911</li>									<li>rs35793694</li><li>rs17143165</li><li>rs41281692</li><li>rs798911</li>	2
A4D161	340277		<li>Y->H at 20: in dbSNP:rs17855785</li><li>A->T at 90: in dbSNP:rs34518648</li><li>C->R at 95: in dbSNP:rs35495590</li><li>H->R at 128: in dbSNP:rs17855786</li><li>S->G at 240: in dbSNP:rs35928055</li>									<li>rs17855785</li><li>rs17855786</li><li>rs35495590</li><li>rs35928055</li><li>rs34518648</li>	2
A4D1B5	54103		<li>H->R at 47: in dbSNP:rs6949654</li><li>G->E at 305: in dbSNP:rs1527263</li><li>V->I at 649: in dbSNP:rs17151692</li><li>W->L at 653: in dbSNP:rs17151689</li>									<li>rs1527263</li><li>rs17151692</li><li>rs17151689</li><li>rs6949654</li>	2
A4D1E9	85865		<li>C->W at 88: in dbSNP:rs42663</li><li>N->S at 110: in dbSNP:rs42664</li><li>L->F at 164: in dbSNP:rs35001814</li><li>M->I at 368: in dbSNP:rs17863999</li>									<li>rs35001814</li><li>rs17863999</li><li>rs42664</li><li>rs42663</li>	2
A4D1P6	29062		<li>L->P at 257: in dbSNP:rs292592</li>									rs292592	2
A4D1S0	346689		<li>T->K at 152: in dbSNP:rs1860150</li><li>G->A at 339: in dbSNP:rs17160911</li>									<li>rs1860150</li><li>rs17160911</li>	2
A4D1T9			<li>T->P at 119: in dbSNP:rs12669721</li>									rs12669721	2
A4D256			<li>P->S at 238: in dbSNP:rs1615556</li><li>I->L at 296: in dbSNP:rs421206</li>									<li>rs1615556</li><li>rs421206</li>	2
A4D2B0	255374		<li>P->H at 79: in dbSNP:rs17852945</li><li>H->N at 114: in dbSNP:rs17852946</li>									<li>rs17852945</li><li>rs17852946</li>	2
A4D2P6	392862		<li>R->Q at 20: in dbSNP:rs11761490</li>									rs11761490	2
A4FU01	10903		<li>M->V at 159: in dbSNP:rs11205303</li><li>Q->P at 531: in dbSNP:rs16836857</li>									<li>rs11205303</li><li>rs16836857</li>	2
A4FU49	79729		<li>S->A at 217: in dbSNP:rs12121759</li>									rs12121759	2
A4FU69	374786		<li>L->V at 237: in dbSNP:rs9897794</li><li>K->I at 278: in dbSNP:rs4795524</li><li>R->S at 561: in dbSNP:rs9900546</li><li>A->D at 1145: in dbSNP:rs9894896</li><li>V->A at 1252: in dbSNP:rs4499292</li><li>R->T at 1274: in dbSNP:rs35724168</li><li>D->Y at 1488: in dbSNP:rs5024269</li>									<li>rs9894896</li><li>rs4499292</li><li>rs4795524</li><li>rs9897794</li><li>rs5024269</li><li>rs9900546</li><li>rs35724168</li>	2
A4QMS7	134121		<li>Q->H at 68: in dbSNP:rs6883562</li><li>E->K at 87: in dbSNP:rs16879215</li><li>P->S at 139: in dbSNP:rs326181</li>									<li>rs326181</li><li>rs6883562</li><li>rs16879215</li>	2
A4QMU0	221261		<li>I->T at 84: in dbSNP:rs6927569</li>									rs6927569	2
A4QPB2	91355		<li>T->M at 61: in dbSNP:rs17616994</li>									rs17616994	2
A4QPH2			<li>E->Q at 223: in dbSNP:rs2930770</li>									rs2930770	2
A4UGR9	129446		<li>P->A at 450: in dbSNP:rs16853305</li><li>Y->H at 457: in dbSNP:rs16853306</li><li>I->T at 1397: in dbSNP:rs7588159</li><li>I->T at 1488: in dbSNP:rs7591107</li><li>R->H at 1626: in dbSNP:rs16853309</li><li>N->S at 1833: in dbSNP:rs7607246</li><li>L->R at 2423: in dbSNP:rs16853326</li><li>S->N at 2553: in dbSNP:rs16853328</li><li>H->Y at 2595: in dbSNP:rs16853329</li><li>V->I at 2607: in dbSNP:rs16853330</li><li>G->D at 2728: in dbSNP:rs3749002</li><li>A->T at 2910: in dbSNP:rs16853331</li><li>Y->C at 2975: in dbSNP:rs3749003</li><li>I->V at 3022: in dbSNP:rs3749004</li><li>G->E at 3202: in dbSNP:rs16853333</li>									<li>rs16853305</li><li>rs16853306</li><li>rs16853329</li><li>rs16853309</li><li>rs16853328</li><li>rs16853326</li><li>rs16853330</li><li>rs16853331</li><li>rs16853333</li><li>rs7607246</li><li>rs7591107</li><li>rs7588159</li><li>rs3749004</li><li>rs3749002</li><li>rs3749003</li>	2
A5D8V6	55048		<li>V->D at 182: in dbSNP:rs2232142</li><li>S->L at 198: in dbSNP:rs754382</li><li>S->A at 261: in dbSNP:rs4297482</li>									<li>rs2232142</li><li>rs754382</li><li>rs4297482</li>	2
A5D8V7	115948		<li>R->P at 545: in dbSNP:rs34619515</li>									rs34619515	2
A5D8W1	79846		<li>S->R at 22: in dbSNP:rs17862129</li><li>R->C at 306: in dbSNP:rs17866223</li><li>P->L at 459: in dbSNP:rs17865959</li><li>V->M at 490: in dbSNP:rs1029365</li><li>T->M at 885: in dbSNP:rs17865475</li>									<li>rs17862129</li><li>rs1029365</li><li>rs17866223</li><li>rs17865959</li><li>rs17865475</li>	2
A5LHX3	122706		<li>G->S at 49: in dbSNP:rs34457782</li>									rs34457782	2
A5PLK6	353299		<li>E->D at 5: in dbSNP:rs12083859</li><li>W->C at 256: in dbSNP:rs647224</li>									<li>rs12083859</li><li>rs647224</li>	2
A5PLL1	340120		<li>S->L at 156: in dbSNP:rs32857</li>									rs32857	2
A5PLN7	25854		<li>K->E at 332: in dbSNP:rs4862650</li><li>K->E at 437: in dbSNP:rs4862653</li><li>H->R at 505: in dbSNP:rs2276924</li><li>P->L at 532: in dbSNP:rs2276922</li><li>R->W at 722: in dbSNP:rs9991339</li><li>L->V at 748: in dbSNP:rs6818265</li>									<li>rs2276924</li><li>rs2276922</li><li>rs4862650</li><li>rs9991339</li><li>rs4862653</li><li>rs6818265</li>	2
A5X5Y0	285242		<li>A->T at 71: in dbSNP:rs7627615</li><li>A->T at 430: in dbSNP:rs13324468</li>									<li>rs7627615</li><li>rs13324468</li>	2
A5YKK6	23019		<li>D->A at 603: in dbSNP:rs17854028</li>									rs17854028	2
A5YM72	57571		<li>P->T at 14: in dbSNP:rs868167</li>									rs868167	2
A6BM72	84465		<li>H->R at 242: in dbSNP:rs333550</li>									rs333550	2
A6H8M9	389118		<li>R->K at 5: in dbSNP:rs13072748</li>									rs13072748	2
A6NC51	284417		<li>L->F at 199: in dbSNP:rs7246479</li>									rs7246479	2
A6NC57	342850		<li>A->S at 174: in dbSNP:rs1986751</li><li>C->R at 251: in dbSNP:rs6505715</li><li>E->K at 392: in dbSNP:rs4519391</li><li>A->T at 599: in dbSNP:rs7243248</li>									<li>rs4519391</li><li>rs7243248</li><li>rs1986751</li><li>rs6505715</li>	2
A6NC98	283234		<li>D->E at 193: in dbSNP:rs647152</li><li>W->R at 639: in dbSNP:rs685870</li><li>D->A at 886: in dbSNP:rs1318165</li>									<li>rs685870</li><li>rs1318165</li><li>rs647152</li>	2
A6NCF5			<li>R->H at 163: in dbSNP:rs12587478</li><li>R->Q at 176: in dbSNP:rs17242648</li><li>E->G at 345: in dbSNP:rs1953225</li><li>A->T at 516: in dbSNP:rs7145318</li>									<li>rs17242648</li><li>rs7145318</li><li>rs1953225</li><li>rs12587478</li>	2
A6NCV1	254783		<li>R->G at 2: in dbSNP:rs7301705</li><li>L->F at 61: in dbSNP:rs11171388</li><li>Y->C at 75: in dbSNP:rs4388990</li><li>G->D at 86: in dbSNP:rs6581025</li><li>R->C at 120: in dbSNP:rs4321039</li>									<li>rs4388990</li><li>rs4321039</li><li>rs6581025</li><li>rs11171388</li><li>rs7301705</li>	2
A6ND36	644815		<li>I->T at 109: in dbSNP:rs2074283</li>									rs2074283	2
A6ND48	401994		<li>V->A at 36: in dbSNP:rs4462184</li><li>D->N at 50: in dbSNP:rs4509608</li><li>S->N at 170: in dbSNP:rs2000390</li>									<li>rs4462184</li><li>rs4509608</li><li>rs2000390</li>	2
A6NDA9	340745		<li>C->Y at 28: in dbSNP:rs12773843</li><li>K->N at 179: in dbSNP:rs11200927</li><li>L->F at 220: in dbSNP:rs11200925</li><li>V->A at 496: in dbSNP:rs12217769</li><li>T->P at 510: in dbSNP:rs6585847</li>									<li>rs11200927</li><li>rs12217769</li><li>rs6585847</li><li>rs11200925</li><li>rs12773843</li>	2
A6NDB9	342979		<li>A->T at 440: in dbSNP:rs11880169</li>									rs11880169	2
A6NDH6	403274		<li>V->I at 108: in dbSNP:rs4133320</li><li>S->T at 148: in dbSNP:rs4133321</li><li>T->S at 167: in dbSNP:rs4133322</li>									<li>rs4133322</li><li>rs4133321</li><li>rs4133320</li>	2
A6NDI0	283116		<li>L->M at 398: in dbSNP:rs2696914</li>									rs2696914	2
A6NDN3	55889		<li>R->W at 200: in dbSNP:rs2081561</li>									rs2081561	2
A6NDU8	285636		<li>Q->H at 20: in dbSNP:rs12520325</li>									rs12520325	2
A6NDX5			<li>Y->C at 181: in dbSNP:rs3752261</li>									rs3752261	2
A6NE52			<li>R->G at 149: in dbSNP:rs4977196</li><li>H->Q at 427: in dbSNP:rs34324679</li><li>E->G at 537: in dbSNP:rs13250446</li>									<li>rs34324679</li><li>rs13250446</li><li>rs4977196</li>	2
A6NED2	91433		<li>A->S at 8: in dbSNP:rs4932380</li>									rs4932380	2
A6NEL2	345079		<li>P->T at 377: in dbSNP:rs2703130</li>									rs2703130	2
A6NEN9	158830		<li>R->H at 156: in dbSNP:rs12009522</li>									rs12009522	2
A6NEQ2	220382		<li>V->L at 186: in dbSNP:rs986097</li><li>R->P at 367: in dbSNP:rs6592081</li>									<li>rs6592081</li><li>rs986097</li>	2
A6NER3	729396		<li>Y->C at 9: in dbSNP:rs7064096</li><li>R->S at 13: in dbSNP:rs7064105</li><li>P->R at 16: in dbSNP:rs6520418</li><li>R->Q at 28: in dbSNP:rs7064530</li>									<li>rs7064105</li><li>rs6520418</li><li>rs7064096</li><li>rs7064530</li>	2
A6NES4			<li>A->D at 41: in dbSNP:rs6431631</li><li>Y->H at 301: in dbSNP:rs1500481</li><li>E->G at 359: in dbSNP:rs2361503</li><li>K->N at 519: in dbSNP:rs11563246</li><li>W->R at 1008: in dbSNP:rs726016</li><li>Q->E at 1071: in dbSNP:rs719418</li><li>S->I at 1105: in dbSNP:rs17864722</li><li>F->S at 1137: in dbSNP:rs1500480</li><li>R->C at 1171: in dbSNP:rs28900688</li><li>V->M at 1214: in dbSNP:rs6734083</li><li>V->M at 1402: in dbSNP:rs17868361</li><li>M->V at 1405: in dbSNP:rs11676792</li><li>A->T at 1442: in dbSNP:rs28900693</li><li>T->A at 1486: in dbSNP:rs28900694</li><li>M->V at 1569: in dbSNP:rs11563074</li><li>F->L at 1578: in dbSNP:rs28900700</li><li>A->T at 1594: in dbSNP:rs879665</li><li>V->I at 1601: in dbSNP:rs879664</li><li>P->L at 1675: in dbSNP:rs2270856</li>									<li>rs11676792</li><li>rs1500481</li><li>rs2270856</li><li>rs28900700</li><li>rs11563246</li><li>rs17864722</li><li>rs28900694</li><li>rs28900693</li><li>rs1500480</li><li>rs6734083</li><li>rs719418</li><li>rs879665</li><li>rs28900688</li><li>rs11563074</li><li>rs879664</li><li>rs17868361</li><li>rs6431631</li><li>rs2361503</li><li>rs726016</li>	2
A6NET4	403277		<li>G->D at 44: in dbSNP:rs13068323</li>									rs13068323	2
A6NF34			<li>P->R at 547: in dbSNP:rs7091749</li>									rs7091749	2
A6NF89	283365		<li>T->I at 190: in dbSNP:rs11171402</li>									rs11171402	2
A6NFD8	391723		<li>L->V at 147: in dbSNP:rs1078461</li>									rs1078461	2
A6NFN9	389161		<li>R->W at 217: in dbSNP:rs7645720</li><li>I->M at 306: in dbSNP:rs3821406</li><li>S->G at 386: in dbSNP:rs7610425</li>									<li>rs7610425</li><li>rs7645720</li><li>rs3821406</li>	2
A6NFR6	285679		<li>R->C at 55: in dbSNP:rs1319931</li><li>L->P at 56: in dbSNP:rs13168357</li>									<li>rs1319931</li><li>rs13168357</li>	2
A6NFU8	145814		<li>V->A at 142: in dbSNP:rs2715423</li><li>E->Q at 169: in dbSNP:rs1521484</li>									<li>rs2715423</li><li>rs1521484</li>	2
A6NG73	136157		<li>I->V at 16: in dbSNP:rs2402730</li>									rs2402730	2
A6NGA9	338949		<li>M->L at 204: in dbSNP:rs16956904</li>									rs16956904	2
A6NGB9	644150		<li>E->G at 321: in dbSNP:rs3750092</li>									rs3750092	2
A6NGD5	649137		<li>Q->R at 24: in dbSNP:rs10419548</li><li>Q->R at 181: in dbSNP:rs4801690</li><li>E->D at 197: in dbSNP:rs12979551</li><li>Q->K at 259: in dbSNP:rs1865102</li>									<li>rs12979551</li><li>rs10419548</li><li>rs1865102</li><li>rs4801690</li>	2
A6NGE4	139425		<li>R->W at 549: in dbSNP:rs12388557</li>									rs12388557	2
A6NGE7	646625		<li>Q->P at 57: in dbSNP:rs3897926</li>									rs3897926	2
A6NGG8	388939		<li>S->C at 13: in dbSNP:rs10084168</li><li>K->R at 421: in dbSNP:rs17007544</li><li>T->M at 580: in dbSNP:rs10166913</li><li>L->V at 792: in dbSNP:rs17744093</li><li>P->L at 1254: in dbSNP:rs1975713</li>									<li>rs10084168</li><li>rs10166913</li><li>rs1975713</li><li>rs17007544</li><li>rs17744093</li>	2
A6NGQ2	441161		<li>A->T at 18: in dbSNP:rs2280286</li><li>A->V at 92: in dbSNP:rs496530</li>									<li>rs2280286</li><li>rs496530</li>	2
A6NGR9	642475		<li>H->Q at 97: in dbSNP:rs4873803</li><li>V->A at 132: in dbSNP:rs4874153</li><li>T->I at 134: in dbSNP:rs10866911</li>									<li>rs4874153</li><li>rs4873803</li><li>rs10866911</li>	2
A6NGY5			<li>T->A at 20: in dbSNP:rs17324812</li><li>F->S at 73: in dbSNP:rs11033801</li><li>R->M at 74: in dbSNP:rs11033800</li><li>H->R at 232: in dbSNP:rs11033793</li><li>D->Y at 301: in dbSNP:rs1030726</li>									<li>rs17324812</li><li>rs11033793</li><li>rs1030726</li><li>rs11033801</li><li>rs11033800</li>	2
A6NGZ7			<li>G->R at 192: in dbSNP:rs4276583</li>									rs4276583	2
A6NH00	343172		<li>G->S at 39: in dbSNP:rs11204563</li><li>W->R at 49: in dbSNP:rs11204564</li><li>T->A at 179: in dbSNP:rs4584426</li><li>M->R at 197: in dbSNP:rs4474294</li><li>A->S at 221: in dbSNP:rs4362017</li><li>R->W at 305: in dbSNP:rs6695357</li>									<li>rs4584426</li><li>rs6695357</li><li>rs4362017</li><li>rs4474294</li><li>rs11204564</li><li>rs11204563</li>	2
A6NHA9	119749		<li>S->F at 240: in dbSNP:rs11246607</li><li>C->Y at 252: in dbSNP:rs11246608</li><li>K->R at 288: in dbSNP:rs11246609</li>									<li>rs11246607</li><li>rs11246608</li><li>rs11246609</li>	2
A6NHG9	403273		<li>G->R at 64: in dbSNP:rs4241468</li><li>Y->C at 189: in dbSNP:rs4857076</li>									<li>rs4241468</li><li>rs4857076</li>	2
A6NHL2	79861		<li>Q->H at 135: in dbSNP:rs11818372</li><li>R->W at 250: in dbSNP:rs34080891</li>									<li>rs34080891</li><li>rs11818372</li>	2
A6NHN0	131149		<li>E->A at 470: in dbSNP:rs3921595</li>									rs3921595	2
A6NHR9	23347		<li>V->I at 708: in dbSNP:rs2276092</li><li>K->N at 879: in dbSNP:rs633422</li><li>I->V at 960: in dbSNP:rs9961682</li>									<li>rs2276092</li><li>rs9961682</li><li>rs633422</li>	2
A6NI79	26112		<li>R->K at 197: in dbSNP:rs248427</li>									rs248427	2
A6NIJ9	390327		<li>L->P at 181: in dbSNP:rs10747756</li>									rs10747756	2
A6NIM6	729025		<li>H->Q at 141: in dbSNP:rs1799516</li><li>P->L at 271: in dbSNP:rs1527014</li><li>D->E at 494: in dbSNP:rs1671511</li><li>E->K at 508: in dbSNP:rs3946358</li>									<li>rs1527014</li><li>rs1671511</li><li>rs1799516</li><li>rs3946358</li>	2
A6NIV6	344657		<li>K->E at 159: in dbSNP:rs16854411</li>									rs16854411	2
A6NJ78	196074		<li>N->K at 31: in dbSNP:rs2883478</li><li>A->T at 149: in dbSNP:rs11823114</li>									<li>rs2883478</li><li>rs11823114</li>	2
A6NJG6	503582		<li>R->Q at 145: in dbSNP:rs9813391</li>									rs9813391	2
A6NJH2			<li>Q->R at 250: in dbSNP:rs1051532</li>									rs1051532	2
A6NJL1	342933		<li>P->S at 187: in dbSNP:rs527025</li><li>V->I at 208: in dbSNP:rs4801296</li><li>S->T at 236: in dbSNP:rs10425951</li><li>S->T at 304: in dbSNP:rs892183</li><li>M->L at 412: in dbSNP:rs16987048</li>									<li>rs16987048</li><li>rs892183</li><li>rs527025</li><li>rs4801296</li><li>rs10425951</li>	2
A6NJV1	339778		<li>Q->H at 66: in dbSNP:rs13002673</li><li>Q->L at 177: in dbSNP:rs2272466</li>									<li>rs13002673</li><li>rs2272466</li>	2
A6NJZ3	403282		<li>L->Q at 13: in dbSNP:rs12424958</li><li>T->A at 222: in dbSNP:rs7971073</li>									<li>rs7971073</li><li>rs12424958</li>	2
A6NK53	353355		<li>S->P at 247: in dbSNP:rs16978899</li><li>T->K at 531: in dbSNP:rs1233428</li>									<li>rs16978899</li><li>rs1233428</li>	2
A6NK89			<li>Q->H at 194: in dbSNP:rs4323847</li>									rs4323847	2
A6NK97	440044		<li>A->D at 58: in dbSNP:rs11605576</li><li>A->V at 139: in dbSNP:rs12420456</li>									<li>rs11605576</li><li>rs12420456</li>	2
A6NKB5	80003		<li>R->K at 117: in dbSNP:rs1033325</li><li>T->A at 454: in dbSNP:rs10910120</li>									<li>rs1033325</li><li>rs10910120</li>	2
A6NKC4			<li>P->L at 105: in dbSNP:rs619322</li><li>T->M at 115: in dbSNP:rs619366</li><li>K->M at 171: in dbSNP:rs658149</li><li>H->R at 175: in dbSNP:rs658160</li>									<li>rs658149</li><li>rs619366</li><li>rs619322</li><li>rs658160</li>	2
A6NKF1			<li>T->P at 8: in dbSNP:rs10160811</li><li>L->P at 186: in dbSNP:rs3741390</li>									<li>rs10160811</li><li>rs3741390</li>	2
A6NKF2	138715		<li>R->Q at 310: in dbSNP:rs12337871</li><li>C->G at 335: in dbSNP:rs3808869</li>									<li>rs3808869</li><li>rs12337871</li>	2
A6NKG5	388015		<li>E->Q at 849: in dbSNP:rs11623267</li>									rs11623267	2
A6NKK0	26341		<li>S->T at 148: in dbSNP:rs5009896</li><li>V->I at 150: in dbSNP:rs5009895</li><li>I->L at 153: in dbSNP:rs9845327</li><li>T->I at 181: in dbSNP:rs9826076</li><li>S->T at 230: in dbSNP:rs9849637</li>									<li>rs5009896</li><li>rs9845327</li><li>rs9826076</li><li>rs9849637</li><li>rs5009895</li>	2
A6NKW6	100132916		<li>S->R at 5: in dbSNP:rs16893053</li><li>A->P at 111: in dbSNP:rs2305962</li>									<li>rs2305962</li><li>rs16893053</li>	2
A6NL05	100133021		<li>D->Y at 12: in dbSNP:rs11793234</li><li>R->K at 72: in dbSNP:rs2261191</li><li>R->T at 86: in dbSNP:rs6423979</li>									<li>rs6423979</li><li>rs11793234</li><li>rs2261191</li>	2
A6NL08	390323		<li>L->F at 141: in dbSNP:rs7976023</li><li>A->D at 235: in dbSNP:rs7976416</li>									<li>rs7976416</li><li>rs7976023</li>	2
A6NL71	729884		<li>Y->C at 303: in dbSNP:rs976002</li>									rs976002	2
A6NLB4	729800		<li>W->R at 263: in dbSNP:rs11248317</li>									rs11248317	2
A6NLF2	653420		<li>P->L at 375: in dbSNP:rs2261291</li>									rs2261291	2
A6NLJ0	388125		<li>F->V at 276: in dbSNP:rs8040712</li><li>D->E at 346: in dbSNP:rs1055090</li>									<li>rs1055090</li><li>rs8040712</li>	2
A6NLP5	143941		<li>I->M at 78: in dbSNP:rs7111428</li>									rs7111428	2
A6NM03	338755		<li>Y->C at 28: in dbSNP:rs7102536</li><li>R->P at 54: in dbSNP:rs10839616</li><li>R->L at 87: in dbSNP:rs11828782</li><li>R->G at 299: in dbSNP:rs7924459</li>									<li>rs7924459</li><li>rs7102536</li><li>rs10839616</li><li>rs11828782</li>	2
A6NM43	155100		<li>C->S at 217: in dbSNP:rs6969304</li><li>D->N at 308: in dbSNP:rs12672139</li><li>S->G at 395: in dbSNP:rs6953943</li>									<li>rs12672139</li><li>rs6969304</li><li>rs6953943</li>	2
A6NMB9	401720		<li>T->P at 366: in dbSNP:rs303819</li>									rs303819	2
A6NMN3			<li>R->L at 69: in dbSNP:rs17773851</li>									rs17773851	2
A6NMS3	403278		<li>I->V at 206: in dbSNP:rs9822460</li>									rs9822460	2
A6NMU1	390053		<li>D->G at 87: in dbSNP:rs7947334</li><li>Y->S at 180: in dbSNP:rs10837375</li><li>C->R at 277: in dbSNP:rs4426129</li>									<li>rs10837375</li><li>rs4426129</li><li>rs7947334</li>	2
A6NMX2	253314		<li>D->Y at 227: in dbSNP:rs13163938</li>									rs13163938	2
A6NMZ7	131873		<li>E->K at 345: in dbSNP:rs4613427</li><li>A->T at 370: in dbSNP:rs9830253</li><li>E->A at 461: in dbSNP:rs11921769</li><li>R->Q at 1739: in dbSNP:rs16830494</li><li>H->R at 1799: in dbSNP:rs7614116</li>									<li>rs7614116</li><li>rs4613427</li><li>rs9830253</li><li>rs11921769</li><li>rs16830494</li>	2
A6NNN8	146167		<li>S->T at 220: in dbSNP:rs11862366</li>									rs11862366	2
A6NNS2			<li>S->L at 227: in dbSNP:rs2280490</li>									rs2280490	2
A6PVS8	127255		<li>F->C at 35: in dbSNP:rs2274904</li><li>M->I at 129: in dbSNP:rs17094900</li><li>H->Y at 156: in dbSNP:rs17591320</li><li>A->T at 255: in dbSNP:rs1340472</li><li>I->V at 398: in dbSNP:rs17094779</li><li>E->K at 434: in dbSNP:rs17094777</li><li>L->F at 483: in dbSNP:rs17094774</li>									<li>rs17094900</li><li>rs17094777</li><li>rs1340472</li><li>rs17094774</li><li>rs17591320</li><li>rs2274904</li><li>rs17094779</li>	2
A6PVY3	400823		<li>I->S at 3: in dbSNP:rs2378607</li><li>Q->R at 143: in dbSNP:rs6683071</li>									<li>rs2378607</li><li>rs6683071</li>	2
A6PW82	645090		<li>I->V at 332: in dbSNP:rs16998547</li><li>I->M at 363: in dbSNP:rs6527558</li><li>H->R at 606: in dbSNP:rs6527569</li>									<li>rs16998547</li><li>rs6527569</li><li>rs6527558</li>	2
A6QL63	121551		<li>A->D at 1002: in dbSNP:rs11610050</li><li>G->S at 1076: in dbSNP:rs12303478</li>									<li>rs11610050</li><li>rs12303478</li>	2
A6ZKI3	8933		<li>S->N at 60: in dbSNP:rs1056977</li>									rs1056977	2
A7E2Y1			<li>P->T at 28: in dbSNP:rs17092199</li><li>F->Y at 459: in dbSNP:rs754511</li><li>P->S at 738: in dbSNP:rs3746442</li><li>E->K at 965: in dbSNP:rs2425015</li><li>K->N at 1510: in dbSNP:rs3746435</li><li>A->V at 1539: in dbSNP:rs6060147</li><li>Q->R at 1656: in dbSNP:rs6060148</li><li>V->E at 1875: in dbSNP:rs7273482</li>									<li>rs17092199</li><li>rs6060147</li><li>rs3746435</li><li>rs2425015</li><li>rs754511</li><li>rs7273482</li><li>rs3746442</li><li>rs6060148</li>	2
A7MBM2	85455		<li>P->A at 47: in dbSNP:rs1898883</li><li>C->S at 56: in dbSNP:rs1898882</li><li>G->E at 388: in dbSNP:rs35043215</li><li>G->S at 1145: in dbSNP:rs2412512</li><li>R->W at 1247: in dbSNP:rs3743142</li>									<li>rs35043215</li><li>rs1898882</li><li>rs3743142</li><li>rs2412512</li><li>rs1898883</li>	2
A7MD48	84530		<li>S->N at 243: in dbSNP:rs7297606</li><li>R->Q at 406: in dbSNP:rs2723880</li><li>R->S at 547: in dbSNP:rs2555273</li>									<li>rs2555273</li><li>rs2723880</li><li>rs7297606</li>	2
A8CG34			<li>T->A at 379: in dbSNP:rs427206</li><li>Q->L at 1165: in dbSNP:rs365436</li>									<li>rs365436</li><li>rs427206</li>	2
A8K0R7			<li>P->S at 531: in dbSNP:rs9464</li><li>V->M at 693: in dbSNP:rs28646161</li><li>F->L at 731: in dbSNP:rs1053019</li>									<li>rs1053019</li><li>rs9464</li><li>rs28646161</li>	2
A8K7I4	1179		<li>L->F at 65: in dbSNP:rs2145412</li><li>R->K at 152: in dbSNP:rs2753386</li><li>S->N at 357: in dbSNP:rs2734705</li><li>E->V at 406: in dbSNP:rs1142185</li><li>K->R at 426: in dbSNP:rs4647852</li><li>T->M at 524: in dbSNP:rs2791494</li><li>Y->H at 661: in dbSNP:rs5744409</li><li>K->N at 760: in dbSNP:rs2791483</li>									<li>rs2791483</li><li>rs4647852</li><li>rs2791494</li><li>rs1142185</li><li>rs2753386</li><li>rs2734705</li><li>rs2145412</li><li>rs5744409</li>	2
A8K855	84455		<li>F->I at 27: in dbSNP:rs17125106</li><li>S->G at 186: in dbSNP:rs9436246</li><li>T->I at 248: in dbSNP:rs6693255</li><li>M->T at 262: in dbSNP:rs6657480</li><li>R->K at 375: in dbSNP:rs2273367</li>									<li>rs9436246</li><li>rs6657480</li><li>rs6693255</li><li>rs2273367</li><li>rs17125106</li>	2
A8K8P3	9814		<li>H->L at 13: in dbSNP:rs5749290</li><li>R->H at 72: in dbSNP:rs16989698</li><li>Q->H at 167: in dbSNP:rs7511430</li><li>Y->H at 322: in dbSNP:rs5753700</li><li>W->R at 330: in dbSNP:rs16989291</li><li>R->Q at 549: in dbSNP:rs2006771</li><li>L->P at 1087: in dbSNP:rs12171042</li>									<li>rs12171042</li><li>rs5753700</li><li>rs2006771</li><li>rs16989698</li><li>rs16989291</li><li>rs7511430</li><li>rs5749290</li>	2
A8K979	112479		<li>I->T at 206: in a colorectal cancer sample; somatic mutation</li>										2
A8MPS7	150223		<li>A->T at 263: in dbSNP:rs2298428</li>									rs2298428	2
A8MPX8			<li>R->H at 37: in dbSNP:rs9882323</li><li>F->L at 123: in dbSNP:rs7652446</li><li>A->T at 260: in dbSNP:rs4103004</li>									<li>rs9882323</li><li>rs4103004</li><li>rs7652446</li>	2
A8MSP1			<li>A->V at 101: in dbSNP:rs28593596</li>									rs28593596	2
A8MT70	79740		<li>P->T at 14: in dbSNP:rs10936535</li><li>K->N at 160: in dbSNP:rs4619784</li><li>K->R at 178: in dbSNP:rs11923054</li><li>A->G at 473: in dbSNP:rs13096767</li><li>I->T at 511: in dbSNP:rs35190925</li><li>E->K at 555: in dbSNP:rs35864545</li><li>A->G at 636: in dbSNP:rs12638625</li>									<li>rs10936535</li><li>rs35190925</li><li>rs13096767</li><li>rs11923054</li><li>rs4619784</li><li>rs12638625</li><li>rs35864545</li>	2
A8MTB9			<li>L->H at 160: in dbSNP:rs8106673</li><li>T->A at 161: in dbSNP:rs12610545</li>									<li>rs12610545</li><li>rs8106673</li>	2
A8MTY7	728341		<li>T->I at 23: in dbSNP:rs4890107</li><li>S->N at 130: in dbSNP:rs12948628</li>									<li>rs12948628</li><li>rs4890107</li>	2
A8MUP2	751071		<li>G->S at 125: in dbSNP:rs11231181</li>									rs11231181	2
A8MV23	647174		<li>D->N at 143: in dbSNP:rs17790811</li>									rs17790811	2
A8MV24	388381		<li>P->L at 61: in dbSNP:rs7210156</li>									rs7210156	2
A8MVA2	732428		<li>Y->C at 86: in dbSNP:rs12938692</li>									rs12938692	2
A8MVW5	253012		<li>G->R at 31: in a breast cancer sample; somatic mutation</li><li>K->T at 86: in dbSNP:rs10281525</li>									rs10281525	2
A8MWL7	645203		<li>R->C at 108: in dbSNP:rs5030881</li>									rs5030881	2
A8MWY0	222223		<li>N->Y at 539: in dbSNP:rs1029366</li><li>L->V at 729: in dbSNP:rs34412146</li><li>S->R at 767: in dbSNP:rs34577440</li>									<li>rs34412146</li><li>rs34577440</li><li>rs1029366</li>	2
A8MXQ7	642574		<li>T->R at 509: in dbSNP:rs4875053</li>									rs4875053	2
A8MXV4	390916		<li>R->Q at 43: in dbSNP:rs10413282</li>									rs10413282	2
A8MXY4	7652		<li>A->G at 150: in dbSNP:rs7255780</li>									rs7255780	2
A8MYU2	157855		<li>W->R at 768: in dbSNP:rs28608091</li><li>N->S at 916: in dbSNP:rs16885577</li>									<li>rs28608091</li><li>rs16885577</li>	2
A8TX70	256076		<li>Q->R at 2188: in dbSNP:rs9883988</li><li>G->D at 2205: in dbSNP:rs819085</li>									<li>rs819085</li><li>rs9883988</li>	2
A9YTQ3	57491		<li>L->P at 114: in dbSNP:rs35008248</li><li>A->P at 189: in dbSNP:rs2292596</li><li>G->V at 373: in dbSNP:rs2303738</li><li>D->H at 627: in dbSNP:rs34453673</li>									<li>rs34453673</li><li>rs35008248</li><li>rs2303738</li><li>rs2292596</li>	2
A9Z1Z3			<li>K->E at 1179: in dbSNP:rs1557202</li><li>N->S at 1183: in dbSNP:rs11698021</li><li>V->I at 1318: in dbSNP:rs2277862</li>									<li>rs11698021</li><li>rs1557202</li><li>rs2277862</li>	2
B0I1T2	64005		<li>V->M at 49: in allele HA-2M; the HA-2V allele constitute the HA-2 epitope while HA-2M is not recognized by HA-2 cytotoxic T lymphocytes</li><li>T->M at 489: in dbSNP:rs3735485</li><li>R->Q at 798: in dbSNP:rs2107737</li><li>R->Q at 861: in dbSNP:rs7792760</li>									<li>rs2107737</li><li>rs3735485</li><li>rs7792760</li>	2
B0YJ81	9200		<li>E->K at 64: in dbSNP:rs7895850</li><li>E->Q at 64</li><li>V->F at 70: in dbSNP:rs11254692</li><li>H->Y at 227: in dbSNP:rs1053926</li>									<li>rs11254692</li><li>rs1053926</li><li>rs7895850</li>	2
B1AJZ9	114827		<li>E->K at 763: in dbSNP:rs12126178</li>									rs12126178	2
B1AK53	83715		<li>R->H at 322: in dbSNP:rs3817911</li><li>Y->C at 323: in dbSNP:rs3817910</li><li>S->R at 719: in DFNAWVI; irregular microvillar organization, MIM: 606351</li><li>D->N at 744: in DFNAWVI; irregular microvillar organization, MIM: 606351</li><li>R->Q at 774: in DFNAWVI; sporadic case with mild phenotype; could be a rare polymorphism, MIM: 606351</li><li>Missing  at 848: in DFNAWVI; severe phenotype; severe impairment of microvillar elongation; espin accumulates in the nucleus, MIM: 606351</li>					nucleus	GO:0005634		Non-syndromic sensorineural deafness autosomal dominant without vestibular involvement (DFNAWVI) [MIM:606351]	<li>rs3817910</li><li>rs3817911</li>	2
B1AKI9	140862		<li>P->R at 193: in dbSNP:rs3747933</li>									rs3747933	2
B1ANS9	128025		<li>R->Q at 647: in dbSNP:rs12095445</li><li>R->W at 952: in dbSNP:rs12074374</li>									<li>rs12095445</li><li>rs12074374</li>	2
B1ANY3	647044		<li>W->R at 162: in dbSNP:rs1832322</li><li>K->N at 199: in dbSNP:rs1832323</li><li>K->N at 203: in dbSNP:rs12336220</li>									<li>rs1832322</li><li>rs1832323</li><li>rs12336220</li>	2
B1APH4			<li>P->R at 61: in dbSNP:rs11816311</li><li>R->S at 120: in dbSNP:rs11598660</li>									<li>rs11598660</li><li>rs11816311</li>	2
B2RC85	222967		<li>E->K at 836: in dbSNP:rs17855578</li>									rs17855578	2
B2RTY4	4649		<li>R->K at 37: in dbSNP:rs17855105</li><li>R->Q at 85</li><li>T->I at 161: in dbSNP:rs2929516</li><li>N->D at 168</li><li>L->P at 211</li><li>R->Q at 946</li><li>E->G at 1193: in dbSNP:rs2415129</li><li>S->P at 1362: in dbSNP rsrs55738821</li><li>P->R at 1476: in dbSNP:rs16956375</li><li>H->Y at 1795: in dbSNP:rs16956367</li><li>H->Q at 1805: in dbSNP:rs2306575</li><li>R->C at 1834</li><li>I->V at 2390: in dbSNP:rs2291280</li>									<li>rs16956367</li><li>rs2929516</li><li>rs2291280</li><li>rs2306575</li><li>rs2415129</li><li>rs55738821</li><li>rs17855105</li><li>rs16956375</li>	2
B2RU33	388468		<li>T->A at 3: in dbSNP:rs28535987</li><li>A->T at 10: in dbSNP:rs45488295</li><li>A->T at 13: in dbSNP:rs45561536</li><li>F->C at 28: in dbSNP:rs45626231</li><li>H->P at 30: in dbSNP:rs9807633</li><li>K->R at 36: in dbSNP:rs45570841</li><li>H->R at 66: in dbSNP:rs9807555</li><li>C->Y at 72: in dbSNP:rs45554841</li><li>H->D at 86: in dbSNP:rs45469098</li><li>M->I at 166: in dbSNP:rs12454500</li><li>C->R at 221: in dbSNP:rs7505568</li>									<li>rs45554841</li><li>rs45488295</li><li>rs45570841</li><li>rs45469098</li><li>rs45626231</li><li>rs28535987</li><li>rs7505568</li><li>rs45561536</li><li>rs9807633</li><li>rs12454500</li><li>rs9807555</li>	2
B2RXF5	100128927		<li>A->T at 134: in dbSNP:rs34284721</li><li>K->E at 232: in dbSNP:rs4983387</li>									<li>rs4983387</li><li>rs34284721</li>	2
O00116	8540		<li>T->I at 309: in RCDP3, MIM: 600121</li><li>R->H at 419: in RCDP3, MIM: 600121</li><li>L->P at 469: in RCDP3, MIM: 600121</li>								Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121]		2
O00124	7993		<li>V->M at 18: in dbSNP:rs3174043</li><li>I->T at 51: in dbSNP:rs2911690</li>									<li>rs2911690</li><li>rs3174043</li>	2
O00142			<li>I->M at 53: in MDS, MIM: 609560</li><li>T->M at 64: in MDS, MIM: 609560</li><li>T->M at 108: in MDS; reduction of activity, MIM: 609560</li><li>H->N at 121: in MDS, MIM: 609560</li><li>R->W at 183: in MDS, MIM: 609560</li><li>R->K at 192: in MDS; reduction of activity, MIM: 609560</li><li>I->N at 212: in MDS, MIM: 609560</li>								Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]		2
O00148	10212		<li>V->I at 142: in dbSNP:rs36127505</li>									rs36127505	2
O00151	9124		<li>N->S at 175: in dbSNP:rs2296961</li>									rs2296961	2
O00167	2139		<li>P->S at 83: in dbSNP:rs2275596</li><li>T->A at 238: in dbSNP:rs866936</li>									<li>rs866936</li><li>rs2275596</li>	2
O00170			<li>R->H at 16</li><li>K->Q at 228: in dbSNP:rs641081</li><li>K->E at 241: in FIPA patients; uncertain pathogenicity</li><li>Missing  at 248: in a ACTH-secreting pituitary adenoma patient; uncertain pathogenicity</li><li>R->W at 271: in FIPA patients; uncertain pathogenicity</li><li>R->Q at 304: in a ACTH-secreting pituitary adenoma patient</li>							<li>P68000</li><li>P68001</li><li>Q9YGK2</li><li>Q9YGK4</li><li>P10000</li><li>P22923</li><li>P01189</li><li>P01197</li><li>P01196</li><li>P87352</li><li>P01194</li><li>P01193</li><li>P01192</li><li>P01191</li><li>P01190</li><li>P19402</li><li>P01201</li><li>Q04618</li><li>Q91082</li><li>Q04617</li><li>P06298</li><li>P06297</li><li>P11280</li><li>Q9YGK5</li><li>P06299</li><li>P11885</li><li>P21252</li>		rs641081	2
O00175	6369		<li>I->L at 29: in dbSNP:rs2302006</li><li>S->F at 31: in dbSNP:rs11465293</li><li>A->T at 102: in dbSNP:rs11465312</li><li>Q->E at 110: in dbSNP:rs11465313</li>									<li>rs2302006</li><li>rs11465313</li><li>rs11465312</li><li>rs11465293</li>	2
O00178	9567		<li>G->R at 91: in dbSNP:rs11547402</li>									rs11547402	2
O00182	3965		<li>G->S at 5: in dbSNP:rs3751093</li>									rs3751093	2
O00186	6814		<li>R->Q at 295: in dbSNP:rs2275344</li><li>E->G at 433: in dbSNP:rs1044136</li><li>C->G at 546: in dbSNP:rs1044137</li>									<li>rs2275344</li><li>rs1044136</li><li>rs1044137</li>	2
O00192	421		<li>V->A at 175: in dbSNP:rs2240717</li><li>P->L at 220: in dbSNP:rs2073748</li><li>R->Q at 539: in dbSNP:rs16982871</li><li>R->Q at 906: in dbSNP:rs165815</li><li>R->Q at 909: in dbSNP:rs34638476</li><li>R->W at 909: in dbSNP:rs34687532</li><li>R->W at 912: in dbSNP:rs34445280</li>									<li>rs34638476</li><li>rs34445280</li><li>rs165815</li><li>rs34687532</li><li>rs2240717</li><li>rs2073748</li><li>rs16982871</li>	2
O00194	5874		<li>A->T at 92: in dbSNP:rs9966265</li>									rs9966265	2
O00203	8546		<li>Missing  at 390-410: in HPS2</li><li>L->R at 580: in HPS2, MIM: 608233</li>								Hermansky-Pudlak syndrome type 2 (HPS2) [MIM:608233]		2
O00213	322		<li>M->V at 327: in dbSNP:rs1800423</li><li>N->S at 396: in dbSNP:rs1800425</li>									<li>rs1800423</li><li>rs1800425</li>	2
O00214	3964		<li>F->Y at 18: in dbSNP:rs2737713</li><li>R->C at 35: in dbSNP:rs1041935</li><li>M->V at 55: in dbSNP:rs1041937</li>									<li>rs1041937</li><li>rs1041935</li><li>rs2737713</li>	2
O00217	4728		<li>P->L at 79: in LS: in dbSNP rsrs28939679, MIM: 256000</li><li>R->H at 102: in LS, MIM: 256000</li>								Leigh syndrome (LS) [MIM:256000]	rs28939679	2
O00219	3038		<li>R->H at 173: in dbSNP:rs2232229</li>									rs2232229	2
O00220	8797		<li>G->V at 11: in dbSNP:rs34737614</li><li>T->I at 33: in dbSNP:rs20577</li><li>P->R at 105: in dbSNP:rs11986840</li><li>H->R at 141: in dbSNP:rs6557634</li><li>R->T at 209: in dbSNP:rs20575</li><li>E->A at 228: in dbSNP:rs20576</li><li>N->H at 297: in dbSNP:rs17088980</li><li>K->R at 441: in dbSNP:rs2230229</li>									<li>rs17088980</li><li>rs2230229</li><li>rs20575</li><li>rs20576</li><li>rs20577</li><li>rs34737614</li><li>rs11986840</li><li>rs6557634</li>	2
O00222	2918		<li>S->C at 10: in dbSNP:rs769194</li><li>F->C at 21: in dbSNP:rs769202</li><li>I->T at 265: in dbSNP:rs17150343</li><li>R->Q at 343: in dbSNP:rs13309334</li><li>F->Y at 362</li><li>G->D at 368</li><li>R->Q at 392: in dbSNP:rs2234947</li><li>L->F at 430</li><li>V->G at 548: in dbSNP:rs2234948</li><li>I->N at 768: in dbSNP:rs1051433</li><li>S->I at 902: in dbSNP:rs10225567</li>									<li>rs2234947</li><li>rs2234948</li><li>rs10225567</li><li>rs769194</li><li>rs17150343</li><li>rs13309334</li><li>rs1051433</li><li>rs769202</li>	2
O00232	5718		<li>V->A at 358: in dbSNP:rs2230680</li>									rs2230680	2
O00233	5715		<li>A->V at 17: in dbSNP:rs2230681</li>									rs2230681	2
O00238	658		<li>R->H at 31: in a gastric adenocarcinoma sample; somatic mutation</li><li>R->W at 149</li><li>I->K at 200: in BDA2: in dbSNP rsrs28939703, MIM: 112600</li><li>R->H at 224: in dbSNP rsrs35973133, MIM: 112600</li><li>D->N at 297: in a metastatic melanoma sample; somatic mutation, MIM: 112600</li><li>R->Q at 371: in dbSNP rsrs34970181, MIM: 112600</li><li>R->Q at 486: in brachydactyly type C and BDA2; with also additional features of symphalangism-1, MIM: 112600</li><li>R->W at 486: in BDA2: in dbSNP rsrs28939704, MIM: 112600</li>								Brachydactyly type A2 (BDA2) [MIM:112600]	<li>rs35973133</li><li>rs28939704</li><li>rs28939703</li><li>rs34970181</li>	2
O00241	10326		<li>R->G at 23: in dbSNP:rs1535882</li><li>R->H at 53: in dbSNP:rs2746603</li><li>M->I at 229: in dbSNP:rs2253427</li><li>P->A at 363: in dbSNP:rs2243603</li>									<li>rs1535882</li><li>rs2243603</li><li>rs2253427</li><li>rs2746603</li>	2
O00253	181		<li>A->T at 67: in obesity; late onset; dbSNP:rs5030980</li>									rs5030980	2
O00255	4221		<li>P->L at 12: in MEN1, MIM: 131100</li><li>L->R at 22: in MEN1, MIM: 131100</li><li>E->K at 26: in parathyroid adenoma and MEN1; dbSNP:rs28931612, MIM: 131100</li><li>L->W at 39: in MEN1, MIM: 131100</li><li>G->D at 42: in MEN1, MIM: 131100</li><li>E->G at 45: in MEN1, MIM: 131100</li><li>E->K at 45: in MEN1, MIM: 131100</li><li>R->L at 98: in MEN1, MIM: 131100</li><li>G->E at 110: in MEN1, MIM: 131100</li><li>Missing  at 119: in MEN1, MIM: 131100</li><li>K->I at 135: in MEN1, MIM: 131100</li><li>H->D at 139: in MEN1, MIM: 131100</li><li>H->P at 139: in MEN1, MIM: 131100</li><li>H->R at 139: in MEN1, MIM: 131100</li><li>H->Y at 139: in MEN1; familial and sporadic cases, MIM: 131100</li><li>F->V at 144: in MEN1, MIM: 131100</li><li>D->V at 158: in MEN1 and FIHP, MIM: 131100</li><li>S->I at 159: in MEN1, MIM: 131100</li><li>S->F at 160: in MEN1, MIM: 131100</li><li>G->D at 161: in MEN1 and parathyroid tumor, MIM: 131100</li><li>A->P at 165: in MEN1, MIM: 131100</li><li>A->T at 165: in MEN1, MIM: 131100</li><li>V->F at 167: in MEN1, MIM: 131100</li><li>A->D at 169: in MEN1, MIM: 131100</li><li>C->R at 170: in MEN1, MIM: 131100</li><li>Missing  at 171-173: in MEN1, MIM: 131100</li><li>L->P at 173: in MEN1, MIM: 131100</li><li>R->Q at 176: in dbSNP:rs607969, MIM: 131100</li><li>D->Y at 177: in MEN1, MIM: 131100</li><li>A->P at 181: in MEN1, MIM: 131100</li><li>E->D at 184: in MEN1, MIM: 131100</li><li>E->K at 184: in MEN1, MIM: 131100</li><li>E->Q at 184: in MEN1, MIM: 131100</li><li>H->R at 186: in MEN1, MIM: 131100</li><li>W->R at 188: in MEN1 and parathyroid tumor, MIM: 131100</li><li>W->S at 188: in MEN1, MIM: 131100</li><li>V->E at 189: in FIHP, MIM: 145000</li><li>V->M at 220: in MEN1, MIM: 131100</li><li>L->P at 228: in MEN1, MIM: 131100</li><li>G->R at 230: in MEN1, MIM: 131100</li><li>R->L at 234: in MEN1, MIM: 131100</li><li>V->F at 245: in MEN1, MIM: 131100</li><li>C->F at 246: in MEN1, MIM: 131100</li><li>C->R at 246: in MEN1, MIM: 131100</li><li>C->Y at 246: in MEN1, MIM: 131100</li><li>A->V at 247: in MEN1, MIM: 131100</li><li>S->P at 258: in MEN1, MIM: 131100</li><li>S->W at 258: in parathyroid tumor, MIM: 131100</li><li>E->K at 260: in FIHP, MIM: 145000</li><li>L->R at 264: in MEN1, MIM: 131100</li><li>Q->P at 265: in FIHP, MIM: 145000</li><li>Q->QLQ at 266: in MEN1, MIM: 145000</li><li>L->P at 269: in MEN1, MIM: 131100</li><li>L->P at 272: in FIHP, MIM: 145000</li><li>E->A at 279: in parathyroid tumor, MIM: 145000</li><li>P->H at 282: in FIHP, MIM: 145000</li><li>G->R at 286: in MEN1, MIM: 131100</li><li>A->E at 289: in MEN1, MIM: 131100</li><li>A->P at 289: in parathyroid tumor, MIM: 131100</li><li>L->P at 291: in MEN1, MIM: 131100</li><li>G->D at 310: in FIHP, MIM: 145000</li><li>A->P at 314: in MEN1, MIM: 131100</li><li>T->P at 316: in MEN1, MIM: 131100</li><li>R->P at 319: in MEN1, MIM: 131100</li><li>H->R at 322: in MEN1, MIM: 131100</li><li>H->Y at 322: in MEN1, MIM: 131100</li><li>P->L at 325: in MEN1, MIM: 131100</li><li>P->R at 325: in MEN1, MIM: 131100</li><li>A->P at 330: in MEN1, MIM: 131100</li><li>A->D at 342: in MEN1; dbSNP:rs2071312, MIM: 131100</li><li>A->P at 342: in MEN1, MIM: 131100</li><li>W->R at 346: in MEN1, MIM: 131100</li><li>A->P at 347: in MEN1, MIM: 131100</li><li>T->R at 349: in MEN1, MIM: 131100</li><li>I->N at 353: in MEN1, MIM: 131100</li><li>Y->D at 358: in MEN1, MIM: 131100</li><li>R->W at 360: in MEN1, MIM: 131100</li><li>D->H at 362: in MEN1, MIM: 131100</li><li>E->K at 364: in MEN1, MIM: 131100</li><li>Missing  at 368: in MEN1, MIM: 131100</li><li>A->D at 373: in MEN1, MIM: 131100</li><li>I->M at 377: in MEN1, MIM: 131100</li><li>P->S at 378: in MEN1, MIM: 131100</li><li>A->V at 390: in MEN1, MIM: 131100</li><li>A->P at 416: in MEN1 and FIHP, MIM: 131100</li><li>L->P at 419: in MEN1, MIM: 131100</li><li>R->P at 420: in MEN1, MIM: 131100</li><li>Missing  at 423-426: in MEN1, MIM: 131100</li><li>D->H at 423: in MEN1, MIM: 131100</li><li>D->N at 423: in MEN1, MIM: 131100</li><li>Missing  at 423: in MEN1, MIM: 131100</li><li>C->Y at 426: in MEN1, MIM: 131100</li><li>W->S at 428: in MEN1, MIM: 131100</li><li>S->R at 432: in MEN1, MIM: 131100</li><li>W->C at 441: in MEN1, MIM: 131100</li><li>W->R at 441: in MEN1, MIM: 131100</li><li>L->P at 449: in MEN1, MIM: 131100</li><li>F->S at 452: in MEN1; sporadic; with Zollinger-Ellison syndrome, MIM: 131100</li><li>R->C at 532: in MEN1, MIM: 131100</li><li>P->S at 545: in MEN1, MIM: 131100</li><li>A->T at 546: in dbSNP:rs2959656, MIM: 131100</li><li>P->S at 549: in MEN1, MIM: 131100</li><li>T->S at 557: in adrenal adenoma; somatic, MIM: 131100</li><li>S->N at 560: in MEN1, MIM: 131100</li><li>S->R at 560: in MEN1, MIM: 131100</li>							O00255	<li>Familial isolated hyperparathyroidism (FIHP) [MIM:145000]</li><li>Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]</li>	<li>rs2959656</li><li>rs607969</li><li>rs28931612</li>	2
O00258	7485		<li>V->I at 110: in dbSNP:rs35946782</li>									rs35946782	2
O00268	6874		<li>P->L at 651: in dbSNP:rs6089604</li>									rs6089604	2
O00270	2853		<li>H->R at 91: in dbSNP:rs6902566</li>									rs6902566	2
O00292	7044		<li>S->L at 92: in dbSNP:rs366439</li><li>P->L at 286: in dbSNP:rs2295418</li><li>S->N at 342: in L-R axis malformations</li>									<li>rs2295418</li><li>rs366439</li>	2
O00294	7287		<li>T->R at 67: in dbSNP:rs7764472</li><li>Missing  at 120-127: in RP14</li><li>A->V at 245: in RP14, MIM: 600132</li><li>I->T at 259: in RP14; dbSNP:rs2064317, MIM: 600132</li><li>K->N at 261: in dbSNP:rs2064318, MIM: 600132</li><li>K->T at 261: in RP14, MIM: 600132</li><li>R->H at 378: in RP14, MIM: 600132</li><li>F->S at 382: in RP14, MIM: 600132</li><li>R->P at 420: in RP14, MIM: 600132</li><li>T->M at 454: in RP14, MIM: 600132</li><li>I->K at 459: in RP14, MIM: 600132</li><li>K->R at 489: in RP14, MIM: 600132</li><li>F->L at 491: in RP14, MIM: 600132</li><li>A->T at 496: in RP14, MIM: 600132</li>							P26783	Retinitis pigmentosa type 14 (RP14) [MIM:600132]	<li>rs7764472</li><li>rs2064318</li><li>rs2064317</li>	2
O00295	7288		<li>A->T at 18: in dbSNP:rs7260579</li><li>E->K at 245: in dbSNP:rs2270945</li><li>D->N at 251: in dbSNP:rs8112811</li>									<li>rs7260579</li><li>rs8112811</li><li>rs2270945</li>	2
O00303	8665		<li>P->L at 39: in dbSNP:rs1043738</li><li>W->L at 172: in dbSNP:rs1044058</li>									<li>rs1043738</li><li>rs1044058</li>	2
O00305	785		<li>C->F at 104: in IGE; dbSNP:rs1805031, MIM: 600669</li>								Idiopathic generalized epilepsy (IGE) [MIM:600669]	rs1805031	2
O00311	8317		<li>Q->P at 23: in dbSNP:rs13447459</li><li>I->V at 99: in dbSNP:rs13447492</li><li>G->W at 112: in dbSNP:rs13447493</li><li>F->L at 162: in dbSNP:rs13447503</li><li>I->M at 208: in dbSNP rsrs34979509</li><li>E->D at 209: in dbSNP rsrs56327502</li><li>K->R at 441: in dbSNP:rs13447539</li><li>T->I at 472: in dbSNP rsrs56381770</li><li>S->A at 498: in dbSNP rsrs35055915</li>									<li>rs13447503</li><li>rs34979509</li><li>rs13447459</li><li>rs56327502</li><li>rs13447539</li><li>rs35055915</li><li>rs56381770</li><li>rs13447492</li><li>rs13447493</li>	2
O00322	11045		<li>S->A at 33: in dbSNP:rs2267586</li><li>M->T at 257: in dbSNP:rs2285421</li>									<li>rs2267586</li><li>rs2285421</li>	2
O00337			<li>E->G at 34: in A</li><li>L->LV at 140: in A</li><li>V->I at 189: in A</li><li>N->S at 409: in B</li><li>D->N at 521: in B and C</li>										2
O00338	6819		<li>Y->H at 128: in dbSNP:rs17036091</li><li>S->A at 255: in dbSNP:rs17036104</li>									<li>rs17036104</li><li>rs17036091</li>	2
O00339	4147		<li>E->K at 356: in dbSNP:rs1869609</li>									rs1869609	2
O00341	6512		<li>R->C at 41: in a colorectal cancer sample; somatic mutation</li><li>Q->R at 537: in dbSNP:rs1288401</li>									rs1288401	2
O00358	2304		<li>S->N at 57: in Bamforth-Lazarus syndrome; without choanal atresia; dbSNP:rs28937575, MIM: 241850</li><li>A->V at 65: in Bamforth-Lazarus syndrome, MIM: 241850</li><li>R->C at 102: in congenital hypothyroidism; with absence of thyroid agenesis; complete loss of DNA binding and transcriptionally inactive, MIM: 241850</li><li>A->AAA at 179, MIM: 241850</li>			DNA binding	GO:0003677				Bamforth-Lazarus syndrome [MIM:241850]	rs28937575	2
O00391	5768		<li>N->S at 114: in dbSNP:rs3894211</li><li>G->A at 200: in dbSNP:rs17855475</li><li>R->M at 256: in dbSNP:rs4360492</li><li>A->S at 294: in dbSNP:rs2278943</li><li>H->R at 444: in dbSNP:rs12371</li><li>N->H at 591: in dbSNP:rs3738115</li><li>R->P at 605: in dbSNP:rs16855466</li>									<li>rs12371</li><li>rs17855475</li><li>rs3738115</li><li>rs16855466</li><li>rs4360492</li><li>rs2278943</li><li>rs3894211</li>	2
O00398	27334		<li>N->H at 3: in dbSNP:rs6618868</li>									rs6618868	2
O00400	9197		<li>S->R at 113: in SPG42, MIM: 612539</li><li>D->G at 171: in dbSNP:rs3804769, MIM: 612539</li><li>V->A at 400: in a colorectal cancer sample; somatic mutation, MIM: 612539</li>								Spastic paraplegia autosomal dominant type 42 (SPG42) [MIM:612539]	rs3804769	2
O00408	5138		<li>T->I at 224: in dbSNP:rs341047</li>									rs341047	2
O00409	1112		<li>Y->H at 337: in dbSNP:rs1804717</li>									rs1804717	2
O00410			<li>L->I at 286: in dbSNP:rs1053814</li><li>E->K at 525: in dbSNP:rs632729</li><li>E->K at 549: in dbSNP:rs484770</li><li>Y->C at 905: in dbSNP:rs1804740</li><li>T->I at 969: in dbSNP:rs1804741</li>									<li>rs1053814</li><li>rs1804741</li><li>rs1804740</li><li>rs632729</li><li>rs484770</li>	2
O00411	5442		<li>E->A at 555: in dbSNP:rs2238549</li>									rs2238549	2
O00418	29904		<li>H->R at 23: in dbSNP:rs9935059</li><li>P->A at 75: in dbSNP:rs17841292</li><li>T->M at 291: in a colorectal adenocarcinoma sample; somatic mutation</li><li>R->W at 433: in dbSNP rsrs56137739</li><li>D->H at 609</li>									<li>rs9935059</li><li>rs17841292</li><li>rs56137739</li>	2
O00421	727811		<li>Y->C at 4: in dbSNP:rs11574443</li><li>F->Y at 167: in dbSNP:rs3204849</li><li>V->M at 168: in dbSNP:rs6441977</li><li>I->V at 243: in dbSNP:rs3204850</li>									<li>rs6441977</li><li>rs3204850</li><li>rs3204849</li><li>rs11574443</li>	2
O00423	2009		<li>A->V at 377: in dbSNP:rs34198557</li><li>H->N at 552: in dbSNP:rs17853154</li><li>P->S at 556: in dbSNP:rs2250718</li>									<li>rs2250718</li><li>rs17853154</li><li>rs34198557</li>	2
O00444	10733		<li>Y->C at 86: in dbSNP:rs34156294</li><li>R->H at 146: in dbSNP:rs35232579</li><li>A->T at 226: in dbSNP rsrs35448573</li><li>S->T at 232: in dbSNP:rs3811740</li><li>P->L at 317: in dbSNP rsrs35049837</li><li>N->D at 449: in dbSNP rsrs34906574</li><li>W->S at 519: in dbSNP rsrs56043017</li><li>E->D at 830: in dbSNP:rs17012739</li>									<li>rs3811740</li><li>rs35448573</li><li>rs34906574</li><li>rs56043017</li><li>rs35049837</li><li>rs35232579</li><li>rs17012739</li><li>rs34156294</li>	2
O00445	6861		<li>E->D at 4: in dbSNP:rs2301279</li><li>R->Q at 111: in dbSNP:rs11542503</li>									<li>rs2301279</li><li>rs11542503</li>	2
O00459	5296		<li>R->S at 234: in dbSNP:rs2241088</li><li>P->S at 313: in dbSNP:rs1011320</li>									<li>rs1011320</li><li>rs2241088</li>	2
O00461	27333		<li>A->V at 312: in a breast cancer sample; somatic mutation</li>										2
O00462	4126		<li>V->I at 253: in dbSNP:rs227368</li><li>T->M at 701: in dbSNP:rs2866413</li>									<li>rs2866413</li><li>rs227368</li>	2
O00463	7188		<li>V->G at 120: in dbSNP:rs3946808</li><li>N->H at 186: in dbSNP:rs2271458</li><li>L->V at 358: in dbSNP:rs2230780</li>									<li>rs3946808</li><li>rs2271458</li><li>rs2230780</li>	2
O00468	375790		<li>V->I at 1666: in dbSNP:rs17160775</li>									rs17160775	2
O00469	5352		<li>R->H at 598: in BRKS2, MIM: 609220</li><li>G->V at 601: in BRKS2, MIM: 609220</li><li>T->I at 608: in BRKS2, MIM: 609220</li>								Bruck syndrome 2 (BRKS2) [MIM:609220]		2
O00471	10640		<li>E->D at 10: in dbSNP:rs35132458</li>									rs35132458	2
O00476	10786		<li>A->T at 100: in dbSNP:rs1165165</li><li>G->R at 201: in dbSNP rsrs56027330</li><li>P->L at 300: in dbSNP:rs11966370</li>									<li>rs11966370</li><li>rs1165165</li><li>rs56027330</li>	2
O00481	11119		<li>S->N at 224: in dbSNP:rs1057933</li><li>P->T at 456: in dbSNP:rs4712990</li>									<li>rs4712990</li><li>rs1057933</li>	2
O00499	274		<li>K->N at 35: in ARCNM; abolishes membrane tubulation, MIM: 255200</li><li>D->N at 151: in ARCNM; abolishes membrane tubulation, MIM: 255200</li>					membrane	GO:0016020		Centronuclear myopathy autosomal recessive (ARCNM) [MIM:255200]		2
O00505	3839		<li>P->S at 291: in dbSNP:rs1043015</li>									rs1043015	2
O00507	8287		<li>E->D at 65: in dbSNP:rs7067496</li><li>R->C at 211: in dbSNP:rs2032596</li><li>P->S at 1035: in dbSNP:rs20319</li><li>A->T at 1060: in dbSNP:rs20320</li><li>A->S at 1705: in dbSNP:rs2032606</li>									<li>rs20320</li><li>rs2032606</li><li>rs20319</li><li>rs7067496</li><li>rs2032596</li>	2
O00512	607		<li>P->S at 671: in dbSNP:rs3820129</li><li>R->K at 782: in dbSNP:rs34002844</li>									<li>rs34002844</li><li>rs3820129</li>	2
O00515	3898		<li>A->S at 56: in dbSNP:rs3738281</li><li>A->P at 155: in dbSNP:rs1128316</li><li>L->P at 243: in dbSNP:rs12088790</li><li>P->Q at 279: in dbSNP:rs11805972</li><li>K->E at 323: in dbSNP:rs4128458</li><li>T->S at 503: in dbSNP:rs2275866</li>									<li>rs2275866</li><li>rs1128316</li><li>rs12088790</li><li>rs4128458</li><li>rs11805972</li><li>rs3738281</li>	2
O00519	2166		<li>P->T at 129: strongly associated with drug use; dbSNP:rs324420</li><li>A->D at 345: in a breast cancer sample; somatic mutation</li>									rs324420	2
O00522	889		<li>F->S at 97: in CCM1, MIM: 116860</li><li>K->E at 569: in CCM1, MIM: 116860</li>							<li>Q6TNJ1</li><li>O00522</li><li>P93087</li><li>P02597</li>	Cerebral cavernous malformations type 1 (CCM1) [MIM:116860]		2
O00526	7379		<li>A->S at 47: in dbSNP:rs3886020</li>									rs3886020	2
O00533	10752		<li>L->F at 17: in dbSNP:rs2272522</li><li>T->A at 287: in dbSNP:rs13060847</li><li>L->I at 411: in a colorectal cancer sample; somatic mutation</li><li>V->I at 1034: in dbSNP:rs6442827</li>									<li>rs2272522</li><li>rs6442827</li><li>rs13060847</li>	2
O00534	4013		<li>S->I at 499: in dbSNP:rs2276054</li><li>R->K at 506: in dbSNP:rs2276053</li><li>R->C at 757</li><li>H->R at 759</li>									<li>rs2276054</li><li>rs2276053</li>	2
O00541	23481	<ul><li>F->R at 327: Reduces incorporation into the PeBoW complex and nucleolar localization and impairs maturation of 28S ribosomal RNA</li><li>I->R at 347: Reduces incorporation into the PeBoW complex and nucleolar localization and impairs maturation of 28S ribosomal RNA</li><li>R->W at 380: Slightly impairs nucleolar localization</li><li>W->R at 397: Reduces incorporation into the PeBoW complex and nucleolar localization and impairs maturation of 28S ribosomal RNA</li></ul>	<li>T->S at 264: in dbSNP:rs42942</li><li>D->H at 370: in dbSNP:rs11541876</li><li>A->T at 411: in dbSNP:rs34123894</li>	localization	GO:0051179							<li>rs42942</li><li>rs34123894</li><li>rs11541876</li>	3
O00548	28514		<li>V->M at 444: in dbSNP:rs16901311</li>									rs16901311	2
O00555	773		<li>A->V at 21: in dbSNP:rs15999</li><li>R->Q at 192: in FHM, MIM: 141500</li><li>R->K at 195: in FHM, MIM: 141500</li><li>S->L at 218: in FHM, MIM: 141500</li><li>H->Y at 253: in EA2, MIM: 108500</li><li>C->R at 256: in EA2, MIM: 108500</li><li>C->Y at 287: in EA2, MIM: 108500</li><li>G->R at 293: in EA2 and SCA6, MIM: 183086</li><li>R->Q at 583: in FHM, MIM: 141500</li><li>T->M at 666: in FHM and EA2, MIM: 141500</li><li>V->A at 714: in FHM, MIM: 141500</li><li>D->E at 715: in FHM, MIM: 141500</li><li>P->S at 914: in dbSNP:rs16020, MIM: 141500</li><li>E->D at 918: in dbSNP:rs16022, MIM: 141500</li><li>E->V at 993, MIM: 141500</li><li>E->K at 1015: in dbSNP:rs16024, MIM: 141500</li><li>G->S at 1105: in dbSNP:rs16027, MIM: 141500</li><li>K->E at 1335: in FHM, MIM: 141500</li><li>R->Q at 1346: in FHM; with progressive cerebellar ataxia, MIM: 141500</li><li>Y->C at 1384: in FHM, MIM: 141500</li><li>F->C at 1404: in EA2; loss of function, MIM: 108500</li><li>V->L at 1456: in FHM, MIM: 141500</li><li>G->R at 1482: in EA2, MIM: 108500</li><li>F->S at 1490: in EA2, MIM: 108500</li><li>V->I at 1493: in EA2, MIM: 108500</li><li>R->H at 1661: in EA2, MIM: 108500</li><li>R->W at 1667: in FHM, MIM: 141500</li><li>W->R at 1683: in FHM, MIM: 141500</li><li>H->L at 1736: in EA2, MIM: 108500</li><li>E->K at 1756: in EA2, MIM: 108500</li><li>I->L at 1810: in FHM, MIM: 141500</li><li>R->C at 2135: in EA2, MIM: 108500</li><li>P->S at 2394: in dbSNP:rs16056, MIM: 108500</li>								<li>Spinocerebellar ataxia type 6 (SCA6) [MIM:183086]</li><li>Episodic ataxia type 2 (EA2) [MIM:108500]</li><li>Familial hemiplegic migraine (FHM) [MIM:141500]</li>	<li>rs16027</li><li>rs16056</li><li>rs16024</li><li>rs16022</li><li>rs16020</li><li>rs15999</li>	2
O00560	6386		<li>P->T at 26: in dbSNP:rs11550282</li><li>N->S at 69: in dbSNP:rs1127509</li>									<li>rs11550282</li><li>rs1127509</li>	2
O00566	10199		<li>E->A at 69: in dbSNP:rs10199088</li><li>R->H at 115: in dbSNP:rs13010513</li><li>D->N at 140: in dbSNP:rs10175940</li><li>E->D at 229: in dbSNP:rs1813160</li><li>L->M at 425: in dbSNP:rs3732240</li><li>E->K at 634: in dbSNP:rs6574</li><li>A->T at 639: in dbSNP:rs4852764</li>									<li>rs10199088</li><li>rs10175940</li><li>rs6574</li><li>rs4852764</li><li>rs1813160</li><li>rs3732240</li><li>rs13010513</li>	2
O00567	10528		<li>I->V at 121: in dbSNP:rs2273137</li><li>M->T at 475: in dbSNP:rs6753</li><li>V->A at 576: in dbSNP:rs5856</li>									<li>rs6753</li><li>rs2273137</li><li>rs5856</li>	2
O00574	10663		<li>E->K at 3: in dbSNP:rs2234355</li><li>D->A at 25: in STRL33.3</li>							<li>Q9N0Z0</li><li>Q9TV16</li><li>O00574</li><li>Q9XT45</li><li>Q9BDS6</li>		rs2234355	2
O00584	8635		<li>R->W at 236: in dbSNP:rs11159</li>									rs11159	2
O00587	4242		<li>R->C at 302: in dbSNP:rs8192548</li>									rs8192548	2
O00590	1238		<li>V->A at 41: in dbSNP:rs2228467</li><li>A->V at 248: in dbSNP:rs2228469</li><li>L->V at 311: in dbSNP:rs6779520</li><li>Y->S at 373: in dbSNP:rs2228468</li>									<li>rs6779520</li><li>rs2228468</li><li>rs2228467</li><li>rs2228469</li>	2
O00591	2568		<li>F->L at 391: in dbSNP:rs1063310</li><li>H->R at 416: in a breast cancer sample; somatic mutation</li>									rs1063310	2
O00592			<li>T->R at 60</li><li>G->S at 112: in dbSNP:rs3735035</li><li>S->L at 194: in dbSNP:rs12670788</li><li>V->I at 358: in dbSNP:rs3212298</li>									<li>rs3212298</li><li>rs12670788</li><li>rs3735035</li>	2
O00602	2219		<li>Y->H at 126: in dbSNP:rs17549179</li><li>Y->C at 175: in a colorectal cancer sample; somatic mutation</li>									rs17549179	2
O00622	3491		<li>R->W at 334: in dbSNP:rs9658587</li>									rs9658587	2
O00625	8544		<li>V->A at 228: in dbSNP:rs34104000</li>									rs34104000	2
O00628	5191		<li>T->P at 14: in RD, MIM: 266500</li><li>G->R at 217: in RCDP1; could be a polymorphism, MIM: 215100</li><li>A->V at 218: in RCDP1, MIM: 215100</li>								<li>Refsum disease (RD) [MIM:266500]</li><li>Rhizomelic chondrodysplasia punctata type 1 (RCDP1) [MIM:215100]</li>		2
O00634	4917		<li>P->S at 425: in dbSNP:rs34818219</li>									rs34818219	2
O00635	10475		<li>G->R at 421: in dbSNP:rs10317</li>									rs10317	2
O00716	1871		<li>G->R at 344: in dbSNP:rs4134973</li><li>D->N at 389: in dbSNP:rs4134982</li>									<li>rs4134982</li><li>rs4134973</li>	2
O00748	8824		<li>R->W at 34</li><li>R->H at 206</li>										2
O00754	4125		<li>H->L at 72: in AM; type II, MIM: 248500</li><li>H->L at 200: in AM; no residual enzyme activity, MIM: 248500</li><li>A->S at 250: in dbSNP:rs3745650, MIM: 248500</li><li>L->V at 278: in dbSNP:rs1054486, MIM: 248500</li><li>T->I at 312: in dbSNP:rs1054487, MIM: 248500</li><li>R->Q at 337: in dbSNP:rs1133330, MIM: 248500</li><li>T->P at 355: in AM, MIM: 248500</li><li>P->R at 356: in AM; type I, MIM: 248500</li><li>E->K at 402: in AM, MIM: 248500</li><li>N->S at 413: in dbSNP:rs35836657, MIM: 248500</li><li>S->Y at 453: in AM, MIM: 248500</li><li>A->S at 481: in dbSNP:rs34544747, MIM: 248500</li><li>W->R at 714: in AM, MIM: 248500</li><li>R->W at 750: in AM; type II, MIM: 248500</li><li>G->D at 801: in AM; no residual enzyme activity, MIM: 248500</li><li>L->P at 809: in AM, MIM: 248500</li>								Lysosomal alpha-mannosidosis (AM) [MIM:248500]	<li>rs1054487</li><li>rs1054486</li><li>rs34544747</li><li>rs3745650</li><li>rs35836657</li><li>rs1133330</li>	2
O00755	7476		<li>A->T at 109: in Fuhrmann syndrome; retains activity that is significant but not comparable to wild-type activity, MIM: 228930</li><li>R->C at 292: in LPHAS; results in a loss of function mutation with some residual activity, MIM: 276820</li>								<li>Limb/pelvis-hypoplasia/aplasia syndrome (LPHAS) [MIM:276820]</li><li>Fuhrmann syndrome [MIM:228930]</li>		2
O00757	8789	<ul><li>K->E at 21: Reduces sensitivity to AMP; when associated with M-178 and C-180</li><li>T->M at 178: Reduces sensitivity to AMP; when associated with E-21 and C-180</li><li>Q->C at 180: Reduces sensitivity to AMP; when associated with E-21 and M-178</li></ul>	<li>V->L at 86: in dbSNP:rs573212</li>							O24006		rs573212	3
O00763	32		<li>I->V at 552: in dbSNP:rs16940029</li><li>A->T at 651: in dbSNP:rs2300455</li><li>I->V at 2141: in dbSNP:rs2075260</li>									<li>rs2300455</li><li>rs16940029</li><li>rs2075260</li>	2
O00767	6319		<li>M->L at 224: in dbSNP:rs2234970</li>									rs2234970	2
O14490	9229		<li>R->Q at 816: in dbSNP:rs35822832</li>									rs35822832	2
O14498	3671		<li>D->N at 183: in a colorectal cancer sample; somatic mutation</li>										2
O14508	8835		<li>S->N at 52: in dbSNP:rs3741676</li>									rs3741676	2
O14513	344148		<li>S->T at 600: in dbSNP:rs17325719</li><li>V->I at 937: in dbSNP:rs12611515</li><li>I->T at 977: in dbSNP:rs12691830</li><li>N->Y at 1093: in dbSNP:rs16841277</li><li>P->Q at 1260: in dbSNP:rs13016342</li><li>V->A at 1403: in dbSNP:rs2278752</li>									<li>rs2278752</li><li>rs17325719</li><li>rs13016342</li><li>rs12691830</li><li>rs12611515</li><li>rs16841277</li>	2
O14521	6392		<li>G->S at 12: polymorphism that may increase susceptibility for developing pheochromocytoma, paraganglioma, intestinal carcinoid tumor and breast, renal and uterus carcinoma; associated with features of Cowden-like syndrome; associated with increased manganese superoxide dismutase expression; associated with increased reactive oxygen species; associated with 1.9-fold increase in both AKT and MAPK expression; dbSNP:rs34677591</li><li>H->R at 50: polymorphism that may increase susceptibility for developing paraganglioma, breast and tyroid carcinoma; may be involved in somatic Merkel cell carcinoma; associated with features of Cowden-like syndrome; associated with increased manganese superoxide dismutase expression; associated with increased reactive oxygen species; associated with a 2.0-fold increase in AKT expression and a 1.7-fold increase in MAPK expression; dbSNP:rs11214077</li><li>P->L at 81: in PGL1 and pheochromocytoma, MIM: 171300</li><li>D->Y at 92: in PGL1 and pheochromocytoma, MIM: 171300</li><li>Missing  at 93: in PGL1, MIM: 171300</li><li>H->L at 102: in PGL1, MIM: 168000</li><li>Y->C at 114: in PGL1, MIM: 168000</li><li>L->P at 139: in PGL1, MIM: 168000</li><li>H->N at 145: found in an individual with features of Cowden-like syndrome; associated with increased manganese superoxide dismutase expression; asociated with normal reactive oxygen species; associated with no change in AKT expression but a 1.2-fold increase of MAPK expression, MIM: 168000</li><li>G->V at 148: in PLG1, MIM: 168000</li>							<li>P47180</li><li>O42781</li><li>Q00859</li><li>O50258</li><li>P27638</li>	<li>Hereditary paraganglioma type 1 (PGL1) [MIM:168000]</li><li>Pheochromocytoma [MIM:171300]</li>	<li>rs11214077</li><li>rs34677591</li>	2
O14522	11122		<li>A->P at 29: in dbSNP:rs2867655</li><li>F->S at 74: in a colorectal cancer</li><li>M->V at 76: in dbSNP:rs17811401</li><li>A->T at 209: in some colorectal cancers</li><li>K->T at 218: in a gastric cancer</li><li>F->S at 248: in a colorectal cancer</li><li>Y->H at 280: in a colorectal cancer</li><li>I->V at 395: in a colorectal cancer: in dbSNP rsrs41279256</li><li>Y->F at 412: in a colorectal cancer</li><li>R->C at 453: in a gastric cancer</li><li>N->K at 510: in a colorectal cancer</li><li>T->M at 605: in a colorectal cancer</li><li>V->G at 648: in a colorectal cancer</li><li>A->T at 707: in a colorectal cancer</li><li>A->V at 707: in a colorectal cancer</li><li>L->P at 708: in a colorectal cancer</li><li>R->I at 790: in a lung cancer</li><li>D->G at 927: in a colorectal cancer</li><li>Q->K at 987: in a colorectal cancer; reduced phosphatase activity</li><li>A->P at 1118: in a colorectal cancer</li><li>N->I at 1128: in a colorectal cancer; reduced phosphatase activity</li><li>R->W at 1212: in a colorectal cancer; reduced phosphatase activity</li><li>P->L at 1235: in an acute myeloid leukemia sample; somatic mutation</li><li>M->L at 1259: in a colorectal cancer</li><li>V->M at 1269: in a colorectal cancer</li><li>R->L at 1346: in a lung cancer; reduced phosphatase activity</li><li>Y->F at 1351: in a colorectal cancer</li><li>T->M at 1368: in some colorectal cancers; reduced phosphatase activity</li>							<li>Q5X1E5</li><li>Q7M7K5</li><li>Q7MAZ9</li><li>Q8XBL4</li><li>Q88A53</li><li>Q5P3T0</li><li>Q7MBF4</li><li>Q8Z3M9</li><li>Q5PC82</li><li>Q5ZRX9</li><li>Q821A6</li><li>Q87SK9</li><li>Q9JZ88</li><li>Q9CP21</li><li>Q82U82</li><li>Q9I5V3</li><li>Q5F8K9</li><li>Q63YC3</li><li>Q8Y395</li><li>Q6LV05</li><li>Q8ZLY4</li><li>Q6FA38</li><li>Q9PDL7</li><li>Q62EU1</li><li>Q9JUB2</li><li>Q5WT58</li><li>Q665U9</li><li>Q57JQ5</li><li>Q9KPC6</li><li>Q8P5D4</li><li>Q8CWL6</li><li>Q8PPG9</li><li>P06961</li><li>P45269</li><li>Q9L7A3</li><li>Q88QU2</li><li>Q6D160</li><li>Q8ZI64</li><li>Q60CQ4</li><li>Q87DS9</li><li>Q65Q41</li><li>Q5E2K7</li><li>Q8CXX6</li>		<li>rs17811401</li><li>rs41279256</li><li>rs2867655</li>	2
O14523	9854		<li>R->W at 413: in dbSNP:rs2239896</li>									rs2239896	2
O14525	460		<li>G->R at 1270: in dbSNP:rs12118933</li>									rs12118933	2
O14556	26330		<li>D->N at 110: in dbSNP:rs2285514</li>									rs2285514	2
O14576	1780		<li>N->T at 582: in dbSNP:rs35077523</li>									rs35077523	2
O14578	11113		<li>G->E at 7: in dbSNP rsrs36054900</li><li>R->Q at 9: in dbSNP rsrs56193743</li><li>L->F at 183</li>									<li>rs56193743</li><li>rs36054900</li>	2
O14579	11316		<li>S->C at 13: in dbSNP:rs2231987</li><li>T->I at 117: in dbSNP:rs10330</li>									<li>rs2231987</li><li>rs10330</li>	2
O14581	26333		<li>V->A at 37: in dbSNP:rs10405148</li><li>I->T at 46: in dbSNP:rs10405129</li><li>A->S at 69: in dbSNP:rs10404119</li><li>A->T at 237: in dbSNP:rs13345394</li>									<li>rs10405148</li><li>rs10404119</li><li>rs10405129</li><li>rs13345394</li>	2
O14582	6399		<li>D->Y at 47: in SEDT, MIM: 313400</li><li>S->L at 73: in SEDT, MIM: 313400</li><li>F->S at 83: in SEDT; mild form, MIM: 313400</li><li>V->D at 130: in SEDT, MIM: 313400</li>								Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400]		2
O14593	8625		<li>E->D at 48: in dbSNP:rs34282046</li><li>L->P at 195: in BLS2, MIM: 209920</li><li>Q->E at 251: in dbSNP:rs1802498, MIM: 209920</li>								Bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]	<li>rs34282046</li><li>rs1802498</li>	2
O14594	1463		<li>A->T at 70: in dbSNP:rs2228601</li><li>P->S at 92: in dbSNP:rs2228603</li><li>A->V at 1254: in dbSNP:rs1064389</li>									<li>rs1064389</li><li>rs2228601</li><li>rs2228603</li>	2
O14610	2793		<li>L->F at 11: in dbSNP:rs9895097</li>									rs9895097	2
O14617	8943		<li>G->R at 541: in dbSNP:rs34569645</li><li>I->V at 1072: in dbSNP:rs25673</li>									<li>rs34569645</li><li>rs25673</li>	2
O14625	6373		<li>N->S at 55: in dbSNP:rs4859596</li>									rs4859596	2
O14626	29909		<li>I->V at 283: in dbSNP:rs3732756</li>									rs3732756	2
O14633	26239		<li>I->S at 51: in dbSNP:rs3737859</li>									rs3737859	2
O14638	5169		<li>V->M at 620: in dbSNP:rs9321309</li><li>N->H at 744: in dbSNP:rs36094194</li><li>S->N at 786: in dbSNP:rs17601580</li>									<li>rs17601580</li><li>rs9321309</li><li>rs36094194</li>	2
O14639	3983		<li>P->T at 434: in dbSNP:rs11593544</li><li>R->G at 637: in dbSNP:rs7091419</li>									<li>rs11593544</li><li>rs7091419</li>	2
O14645			<li>A->V at 65: in dbSNP:rs11749</li><li>I->M at 120: in a colorectal cancer sample; somatic mutation</li>									rs11749	2
O14653	9570		<li>R->K at 67: in dbSNP:rs197922</li>									rs197922	2
O14656	1861		<li>D->H at 216: in dbSNP:rs1801968</li><li>D->H at 264</li><li>Missing  at 303: in DYT1</li>							<li>Q60HG2</li><li>Q9ERA9</li><li>O14656</li>		rs1801968	2
O14668	5638		<li>F->I at 60: in a breast cancer sample; somatic mutation</li>										2
O14669	5639		<li>P->S at 22: in dbSNP:rs35016366</li><li>G->C at 116: in dbSNP:rs2288920</li>									<li>rs2288920</li><li>rs35016366</li>	2
O14678	5826		<li>V->I at 172: in dbSNP:rs34992370</li><li>A->T at 304: in dbSNP:rs4148077</li><li>T->R at 350: in dbSNP:rs35073715</li><li>E->K at 368: in dbSNP:rs3742801</li>									<li>rs35073715</li><li>rs4148077</li><li>rs34992370</li><li>rs3742801</li>	2
O14682	8507		<li>I->S at 256: in dbSNP:rs16872126</li>									rs16872126	2
O14686	8085		<li>R->H at 4949: in dbSNP:rs3782356</li>									rs3782356	2
O14717	1787		<li>H->Y at 101: in dbSNP:rs11254413</li>									rs11254413	2
O14730	8780		<li>L->V at 336: in dbSNP:rs35401850</li><li>R->Q at 441: in dbSNP:rs33969048</li><li>S->L at 447: in dbSNP rsrs56282762</li>									<li>rs56282762</li><li>rs35401850</li><li>rs33969048</li>	2
O14732	3613		<li>A->T at 88: in dbSNP:rs16976948</li>									rs16976948	2
O14733	5609		<li>N->S at 118: in dbSNP rsrs56316660</li><li>R->C at 138: in dbSNP rsrs56106612</li><li>R->C at 162: in a colorectal adenocarcinoma sample; somatic mutation</li><li>R->H at 162: in a colorectal adenocarcinoma sample; somatic mutation</li><li>A->T at 195: in dbSNP rsrs55800262</li><li>L->F at 259: in dbSNP:rs1053566</li>									<li>rs56316660</li><li>rs1053566</li><li>rs56106612</li><li>rs55800262</li>	2
O14735	10423		<li>R->C at 199: in dbSNP:rs1802002</li>									rs1802002	2
O14763	8795		<li>P->L at 32: in dbSNP:rs1129424</li><li>A->V at 67: in dbSNP:rs1047266</li>									<li>rs1047266</li><li>rs1129424</li>	2
O14764	2563		<li>E->A at 177: in GEFS+5; reduced receptor current amplitudes, MIM: 604233</li><li>R->C at 220: in a GEFS+ family; does not affect receptor current amplitudes; could be a rare polymorphism, MIM: 604233</li><li>R->H at 220: may contribute to epilepsy; reduced receptor current amplitudes; dbSNP:rs41307846, MIM: 604233</li>								Generalized epilepsy with febrile seizures plus type 5 (GEFS+5) [MIM:604233]	rs41307846	2
O14775	10681		<li>A->V at 213: in dbSNP:rs34637551</li>									rs34637551	2
O14786			<li>V->A at 179: in dbSNP:rs7079053</li><li>F->L at 561: in dbSNP:rs2228637</li>									<li>rs7079053</li><li>rs2228637</li>	2
O14788	8600		<li>M->K at 199: in OPTB2, MIM: 259710</li>								Osteopetrosis autosomal recessive type 2 (OPTB2) [MIM:259710]		2
O14791	8542		<li>E->K at 150: in dbSNP:rs2239785</li><li>I->T at 188: in a breast cancer sample; somatic mutation</li><li>M->I at 228: in dbSNP:rs136175</li><li>R->K at 255: in dbSNP:rs136176</li><li>D->N at 337: in dbSNP:rs16996616</li>									<li>rs2239785</li><li>rs136175</li><li>rs16996616</li><li>rs136176</li>	2
O14792	9957		<li>P->T at 22: in dbSNP:rs11559238</li><li>K->R at 295: in dbSNP:rs34719057</li>									<li>rs11559238</li><li>rs34719057</li>	2
O14793	2660		<li>A->T at 55: in dbSNP:rs1805085</li><li>K->R at 153: in dbSNP:rs1805086</li><li>I->T at 348: in dbSNP:rs34780010</li><li>R->G at 371: in dbSNP:rs16823988</li>									<li>rs34780010</li><li>rs1805086</li><li>rs1805085</li><li>rs16823988</li>	2
O14795	10497		<li>P->S at 209: in a colorectal cancer sample; somatic mutation</li><li>D->E at 238: in dbSNP:rs35199210</li><li>E->D at 1232: in dbSNP:rs12339582</li>									<li>rs35199210</li><li>rs12339582</li>	2
O14796	117157		<li>I->T at 36: in dbSNP:rs35688243</li><li>N->K at 122: in dbSNP:rs34001279</li>									<li>rs34001279</li><li>rs35688243</li>	2
O14798	8794		<li>T->N at 199: in dbSNP:rs12550828</li><li>T->I at 229: in dbSNP:rs9644063</li>									<li>rs12550828</li><li>rs9644063</li>	2
O14802	11128		<li>R->L at 582: in dbSNP:rs34588967</li><li>K->N at 713: in dbSNP:rs35354908</li>									<li>rs35354908</li><li>rs34588967</li>	2
O14813	401		<li>A->V at 72: in CFEOM2, MIM: 602078</li><li>P->Q at 256: may be involved in congenital central hypoventilation syndrome, MIM: 602078</li>								Congenital fibrosis of extraocular muscles type 2 (CFEOM2) [MIM:602078]		2
O14815	10753		<li>A->V at 102: in dbSNP:rs12562749</li><li>S->R at 122: in dbSNP:rs28359608</li><li>D->N at 164: in dbSNP:rs28359632</li><li>I->T at 234: in dbSNP:rs28359644</li><li>A->T at 239: in dbSNP:rs28359647</li><li>R->W at 277: in dbSNP:rs28359655</li><li>K->Q at 322: in dbSNP:rs1933631</li><li>H->Q at 327: in dbSNP:rs28359684</li><li>E->K at 342: in dbSNP:rs16852652</li><li>R->W at 458: in dbSNP:rs28359688</li><li>R->W at 522: in dbSNP:rs12731961</li><li>M->I at 611: in dbSNP:rs16852683</li>									<li>rs28359632</li><li>rs12731961</li><li>rs28359655</li><li>rs28359608</li><li>rs28359644</li><li>rs28359684</li><li>rs28359647</li><li>rs28359688</li><li>rs1933631</li><li>rs16852683</li><li>rs16852652</li><li>rs12562749</li>	2
O14817	7106		<li>I->M at 67: in a breast cancer sample; somatic mutation</li>										2
O14828	10067		<li>L->R at 38: in dbSNP:rs760073</li><li>V->A at 235: in dbSNP:rs1318328</li><li>I->N at 239: in dbSNP:rs909106</li><li>V->D at 242: in dbSNP:rs909107</li>									<li>rs1318328</li><li>rs760073</li><li>rs909107</li><li>rs909106</li>	2
O14829	5475		<li>K->T at 367: in dbSNP:rs1065074</li><li>G->S at 443: in dbSNP:rs11796620</li>									<li>rs1065074</li><li>rs11796620</li>	2
O14830	5470		<li>S->R at 120</li><li>V->L at 394: in dbSNP:rs34097437</li><li>E->K at 412: in dbSNP:rs35599561</li><li>R->K at 553: in dbSNP:rs34155925</li><li>S->C at 575: in dbSNP:rs17000961</li>									<li>rs34155925</li><li>rs35599561</li><li>rs34097437</li><li>rs17000961</li>	2
O14832	5264		<li>P->S at 29: in RD; could be a rare polymorphism: in dbSNP rsrs28938169, MIM: 266500</li><li>N->Y at 83: in RD, MIM: 266500</li><li>P->S at 173: in RD, MIM: 266500</li><li>H->R at 175: in RD, MIM: 266500</li><li>Q->K at 176: in RD: in dbSNP rsrs28939672, MIM: 266500</li><li>D->G at 177: in RD; total loss of activity, MIM: 266500</li><li>A->AA at 192: in RD, MIM: 266500</li><li>W->R at 193: in RD, MIM: 266500</li><li>E->Q at 197: in RD, MIM: 266500</li><li>I->F at 199: in RD, MIM: 266500</li><li>G->S at 204: in RD; total loss of activity: in dbSNP rsrs28939673, MIM: 266500</li><li>G->S at 215: in dbSNP:rs7901902, MIM: 266500</li><li>H->Y at 220: in RD, MIM: 266500</li><li>R->Q at 245: in RD; partial loss of activity, MIM: 266500</li><li>F->S at 257: in RD, MIM: 266500</li><li>N->H at 269: in RD, MIM: 266500</li><li>R->Q at 275: in RD; total loss of activity: in dbSNP rsrs28939674, MIM: 266500</li><li>R->W at 275: in RD; total loss of activity: in dbSNP rsrs28939671, MIM: 266500</li>								Refsum disease (RD) [MIM:266500]	<li>rs7901902</li><li>rs28939673</li><li>rs28939674</li><li>rs28939671</li><li>rs28939672</li><li>rs28938169</li>	2
O14836	23495		<li>C->R at 104: in CVID and IGAD2: in dbSNP rsrs34557412, MIM: 609529</li><li>A->G at 181: in CVID, MIM: 240500</li><li>R->H at 202: in CVID, MIM: 240500</li><li>P->L at 251: in dbSNP:rs34562254, MIM: 240500</li>								<li>Common variable immunodeficiency (CVID) [MIM:240500]</li><li>Immunoglobulin A deficiency 2 (IGAD2) [MIM:609529]</li>	<li>rs34562254</li><li>rs34557412</li>	2
O14841	26873		<li>S->R at 284: in dbSNP:rs3935209</li>									rs3935209	2
O14842	2864		<li>R->H at 211: in dbSNP:rs2301151</li>									rs2301151	2
O14862	9447		<li>E->K at 32: in dbSNP:rs2276405</li><li>C->Y at 304</li>									rs2276405	2
O14867	571		<li>S->P at 314: in dbSNP:rs35474725</li>									rs35474725	2
O14880	4259		<li>G->C at 15: in dbSNP:rs1802087</li><li>P->S at 48: in dbSNP:rs1802088</li>									<li>rs1802088</li><li>rs1802087</li>	2
O14896	3664		<li>A->V at 2: in VWS: in dbSNP rsrs28942093, MIM: 119300</li><li>R->C at 6: in VWS: in dbSNP rsrs28942094, MIM: 119300</li><li>A->V at 16: in VWS, MIM: 119300</li><li>V->A at 18: in VWS, MIM: 119300</li><li>V->M at 18: in VWS, MIM: 119300</li><li>L->P at 22: in VWS and PPS, MIM: 119300</li><li>P->A at 39: in VWS, MIM: 119300</li><li>R->Q at 45: in VWS, MIM: 119300</li><li>W->G at 60: in PPS, MIM: 119500</li><li>A->G at 61: in VWS, MIM: 119300</li><li>T->I at 64: in VWS, MIM: 119300</li><li>K->T at 66: in PPS, MIM: 119500</li><li>G->R at 70: in VWS, MIM: 119300</li><li>P->S at 76: in VWS, MIM: 119300</li><li>Q->K at 82: in PPS, MIM: 119500</li><li>R->C at 84: in PPS, MIM: 119500</li><li>R->G at 84: in VWS, MIM: 119300</li><li>R->H at 84: in PPS, MIM: 119500</li><li>N->H at 88: in VWS, MIM: 119300</li><li>K->E at 89: in PPS, MIM: 119500</li><li>S->G at 90: in VWS, MIM: 119300</li><li>D->H at 98: in VWS, MIM: 119300</li><li>T->A at 100: in VWS, MIM: 119300</li><li>R->Q at 250: in VWS, MIM: 119300</li><li>L->P at 251: in VWS, MIM: 119300</li><li>Q->R at 273: in VWS, MIM: 119300</li><li>V->I at 274: common polymorphism; 3% in European-descended and 22% in Asian populations; responsible for 12% of the genetic contribution to cleft lip or palate; tripled the risk of recurrence in families that already had 1 affected child; dbSNP:rs2235371, MIM: 119300</li><li>FTSKLLD->L at 290-296: in VWS, MIM: 119300</li><li>L->P at 294: in VWS, MIM: 119300</li><li>V->I at 297: in VWS, MIM: 119300</li><li>K->E at 320: in VWS, MIM: 119300</li><li>V->M at 321: in VWS, MIM: 119300</li><li>G->E at 325: in VWS, MIM: 119300</li><li>L->P at 345: in VWS, MIM: 119300</li><li>C->F at 347: in VWS, MIM: 119300</li><li>E->V at 349: in VWS, MIM: 119300</li><li>F->S at 369: in VWS, MIM: 119300</li><li>C->W at 374: in VWS, MIM: 119300</li><li>K->E at 388: in VWS, MIM: 119300</li><li>P->S at 396: in VWS, MIM: 119300</li><li>R->W at 400: in VWS: in dbSNP rsrs28942095, MIM: 119300</li><li>D->N at 430: in PPS, MIM: 119500</li>							Q9BT40	<li>Popliteal pterygium syndrome (PPS) [MIM:119500]</li><li>Van der Woude syndrome (VWS) [MIM:119300]</li>	<li>rs28942095</li><li>rs2235371</li><li>rs28942094</li><li>rs28942093</li>	2
O14901	8462		<li>Q->R at 62: high frequency in individuals with diabetes mellitus type 2; increased repression activity; increased binding to mSin3A; impairs activation of insulin promoter; dbSNP:rs35927125</li><li>T->M at 220: in MODY7; absent in one family member with diabetes; increased repression activity; no alteration in binding affinity to mSin3A; dbSNP:rs34336420, MIM: 610508</li><li>A->S at 347: in MODY7; increased repression activity; no alteration in binding affinity to mSin3A, MIM: 610508</li><li>S->F at 378: in dbSNP:rs35476458, MIM: 610508</li>			binding	GO:0005488			<li>P67974</li><li>P67973</li><li>P67971</li><li>P69048</li><li>P01330</li><li>P0C236</li><li>P69047</li><li>P07453</li><li>P42633</li><li>P01324</li><li>P68243</li><li>P01320</li><li>P68992</li><li>P81423</li><li>P01328</li><li>Q9TQY7</li><li>P01340</li><li>P68990</li><li>P67969</li><li>P68991</li><li>P67968</li><li>P68245</li><li>P81881</li><li>P69046</li><li>P01336</li><li>P68988</li><li>P68987</li><li>P01334</li><li>P01316</li><li>P13190</li><li>P01331</li><li>P01314</li><li>P01319</li><li>P09477</li><li>P09476</li><li>P12703</li><li>P29335</li><li>P12704</li><li>P18109</li><li>P68989</li><li>P12708</li>	Maturity-onset diabetes of the young type 7 (MODY7) [MIM:610508]	<li>rs35476458</li><li>rs34336420</li><li>rs35927125</li>	2
O14904	7483		<li>A->T at 260: in dbSNP:rs8192633</li>									rs8192633	2
O14905	7484		<li>T->M at 106: in dbSNP:rs4968281</li>									rs4968281	2
O14921	6003		<li>L->F at 150: in dbSNP:rs16834603</li>									rs16834603	2
O14924	6002		<li>I->V at 225: in dbSNP:rs7679941</li><li>M->L at 277: in dbSNP:rs16844152</li><li>N->S at 1124: in dbSNP:rs2269497</li>									<li>rs7679941</li><li>rs2269497</li><li>rs16844152</li>	2
O14929	8520		<li>A->P at 317: in a colorectal cancer sample; somatic mutation</li>										2
O14931	259197		<li>A->T at 103: in dbSNP:rs11575840</li><li>R->S at 174: in dbSNP:rs3179003</li>									<li>rs11575840</li><li>rs3179003</li>	2
O14936	8573		<li>G->V at 96: in a lung large cell carcinoma sample; somatic mutation</li>										2
O14939	5338		<li>R->C at 172: in dbSNP:rs2286672</li><li>T->I at 577: in dbSNP:rs1052748</li><li>A->T at 804: in dbSNP:rs11545163</li><li>Q->E at 807: in a breast cancer sample; somatic mutation</li><li>G->R at 821: in dbSNP:rs3764897</li>									<li>rs3764897</li><li>rs1052748</li><li>rs2286672</li><li>rs11545163</li>	2
O14944	2069		<li>G->A at 42: in a breast cancer sample; somatic mutation</li><li>R->Q at 147: in dbSNP:rs35275884</li>									rs35275884	2
O14948	22797		<li>Q->H at 6: in dbSNP:rs35695387</li><li>G->S at 100: in dbSNP:rs35170691</li><li>L->V at 146: in a colorectal cancer sample; somatic mutation</li>									<li>rs35695387</li><li>rs35170691</li>	2
O14949	27089		<li>S->F at 45: in CIII deficiency: in dbSNP rsrs11544803, MIM: 124000</li>							<li>P14110</li><li>P18681</li><li>P03044</li><li>P01083</li>	Mitochondrial complex III deficiency (CIII deficiency) [MIM:124000]	rs11544803	2
O14958	845		<li>R->Q at 33: in CPVT2; reduces calcium-dependent dimerization</li><li>T->A at 66: in dbSNP:rs4074536</li><li>V->M at 76: in dbSNP:rs10801999</li><li>L->H at 167: in CPVT2; alters protein folding, reduces calcium-binding and calcium-dependent oligomerization, decreases sarcoplasmic reticulum Ca, MIM: 611938</li><li>D->H at 307: in CPVT2; reduces calcium-binding and causes 50% decrease in calcium-dependent binding to triadin-1 and junctin, MIM: 611938</li>	protein folding	GO:0006457	binding	GO:0005488	sarcoplasmic reticulum	GO:0016529	<li>P82179</li><li>Q28820</li><li>Q13061</li>	Catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2) [MIM:611938]	<li>rs4074536</li><li>rs10801999</li>	2
O14960	3950		<li>V->I at 58: in dbSNP:rs31517</li>									rs31517	2
O14965	6790		<li>G->R at 11: in dbSNP:rs6069717</li><li>F->I at 31: in dbSNP:rs2273535</li><li>P->L at 50: in dbSNP rsrs34572020</li><li>V->I at 57: in dbSNP:rs1047972</li><li>S->R at 155: in a colorectal adenocarcinoma sample; somatic mutation</li><li>V->M at 174: in a metastatic melanoma sample; somatic mutation</li><li>M->V at 373: in dbSNP rsrs33923703</li>									<li>rs33923703</li><li>rs1047972</li><li>rs6069717</li><li>rs2273535</li><li>rs34572020</li>	2
O14967	1047		<li>A->S at 160: in dbSNP:rs2567241</li><li>V->I at 290: in dbSNP:rs2175563</li><li>R->W at 352: in dbSNP:rs12513290</li>									<li>rs2567241</li><li>rs12513290</li><li>rs2175563</li>	2
O14974	4659		<li>C->W at 116: in dbSNP:rs12582646</li><li>T->P at 305: in dbSNP:rs2596781</li><li>K->N at 734: in dbSNP:rs12820960</li>									<li>rs12582646</li><li>rs2596781</li><li>rs12820960</li>	2
O14975	11001		<li>Q->K at 48: in dbSNP:rs1648348</li>									rs1648348	2
O14976	2580		<li>S->L at 144</li><li>V->M at 580: in dbSNP rsrs34255232</li><li>D->Y at 787: in dbSNP rsrs34585705</li><li>Q->R at 877</li><li>G->D at 962: in a lung neuroendocrine carcinoma sample; somatic mutation</li><li>T->M at 1051: in dbSNP rsrs35227944</li><li>Q->H at 1120: in dbSNP rsrs55801437</li><li>P->L at 1137: in dbSNP rsrs56169884</li><li>S->N at 1168: in dbSNP rsrs56326341</li><li>K->R at 1265: in dbSNP:rs2306242</li><li>D->N at 1297: in dbSNP:rs1134921</li>									<li>rs1134921</li><li>rs55801437</li><li>rs34255232</li><li>rs35227944</li><li>rs2306242</li><li>rs34585705</li><li>rs56326341</li><li>rs56169884</li>	2
O14978	10127		<li>C->S at 310: in dbSNP:rs220379</li><li>V->I at 534: in dbSNP:rs34236132</li>									<li>rs34236132</li><li>rs220379</li>	2
O14983	487		<li>P->L at 789: in BD; almost complete loss of Ca, MIM: 601003</li>								Brody disease (BD) [MIM:601003]		2
O14986	8395		<li>A->T at 415: in dbSNP rsrs55897616</li>									rs55897616	2
O15013	9639		<li>T->I at 357: in SNCV, MIM: 608236</li><li>V->I at 700: in dbSNP:rs2294039, MIM: 608236</li>								Slowed nerve conduction velocity (SNCV) [MIM:608236]	rs2294039	2
O15015			<li>N->I at 1337: in a breast cancer sample; somatic mutation</li>										2
O15018	23037		<li>Q->K at 1258: in dbSNP:rs3101878</li><li>T->A at 1274: in dbSNP:rs157496</li><li>D->E at 1343: in dbSNP:rs12520467</li><li>T->M at 1425: in dbSNP:rs36097367</li><li>A->V at 1649: in dbSNP:rs3101873</li><li>R->Q at 2247: in dbSNP:rs10066063</li>									<li>rs3101873</li><li>rs36097367</li><li>rs12520467</li><li>rs10066063</li><li>rs157496</li><li>rs3101878</li>	2
O15020	6712		<li>L->P at 253: in SCA5, MIM: 600224</li><li>Missing  at 532-544: in SCA5, MIM: 600224</li><li>LAAARR->W at 629-634: in SCA5, MIM: 600224</li><li>E->K at 774: in a colorectal cancer sample; somatic mutation, MIM: 600224</li><li>G->S at 825: in dbSNP:rs4930388, MIM: 600224</li><li>E->K at 835: in dbSNP:rs36054877, MIM: 600224</li><li>V->A at 1034: in dbSNP:rs506028, MIM: 600224</li>								Spinocerebellar ataxia type 5 (SCA5) [MIM:600224]	<li>rs506028</li><li>rs36054877</li><li>rs4930388</li>	2
O15021	375449		<li>Q->R at 923</li><li>R->W at 1957</li><li>P->L at 2201</li><li>S->C at 2293</li><li>E->D at 2470: in a lung squamous cell carcinoma sample; somatic mutation</li>										2
O15027	9919		<li>R->C at 861: in dbSNP:rs3812594</li>									rs3812594	2
O15037	23351		<li>K->T at 261: in dbSNP:rs3742520</li><li>L->W at 270: in dbSNP:rs7151995</li>									<li>rs3742520</li><li>rs7151995</li>	2
O15040			<li>V->I at 320: in dbSNP:rs1309353</li><li>A->T at 386: in dbSNP:rs11845676</li><li>P->S at 439: in dbSNP:rs2273906</li><li>I->V at 683: in dbSNP:rs10149146</li>									<li>rs1309353</li><li>rs2273906</li><li>rs11845676</li><li>rs10149146</li>	2
O15050	9881		<li>P->L at 703: in dbSNP:rs17201603</li><li>E->G at 1090: in dbSNP:rs11712950</li>									<li>rs17201603</li><li>rs11712950</li>	2
O15054			<li>S->L at 305: in dbSNP:rs2270516</li>									rs2270516	2
O15056	8871		<li>E->G at 1468: in dbSNP:rs2502601</li>									rs2502601	2
O15060	9880		<li>P->A at 689: in dbSNP:rs3741576</li>									rs3741576	2
O15061	23336		<li>A->V at 272</li><li>V->I at 330</li><li>R->W at 338</li><li>P->L at 567</li><li>E->A at 612</li><li>P->L at 761</li><li>R->W at 946</li><li>Q->R at 976</li><li>P->L at 1059</li><li>R->P at 1067</li><li>S->L at 1077</li><li>G->E at 1386: in dbSNP:rs2292288</li><li>F->C at 1462: in dbSNP:rs2292287</li>									<li>rs2292287</li><li>rs2292288</li>	2
O15062	9925		<li>D->G at 300: in dbSNP:rs17502738</li>									rs17502738	2
O15069			<li>D->E at 438: in dbSNP:rs3735495</li><li>V->A at 498: in dbSNP:rs3735494</li><li>K->E at 591: in dbSNP:rs7777835</li><li>D->E at 1105: in dbSNP:rs10243185</li><li>C->F at 1152: in dbSNP:rs3735493</li>									<li>rs3735495</li><li>rs10243185</li><li>rs7777835</li><li>rs3735494</li><li>rs3735493</li>	2
O15075	9201		<li>G->C at 29: in a gastric adenocarcinoma sample; somatic mutation</li><li>T->M at 46: in a gastric adenocarcinoma sample; somatic mutation</li><li>R->Q at 93: in a gastric adenocarcinoma sample; somatic mutation</li><li>S->F at 291: in a gastric adenocarcinoma sample; somatic mutation</li><li>R->H at 292: in dbSNP:rs56185003</li>									rs56185003	2
O15078	80184		<li>W->C at 7: in JBTS5, MIM: 610188</li><li>K->E at 838: in dbSNP:rs11104738, MIM: 610188</li><li>L->W at 906: in dbSNP:rs7970228, MIM: 610188</li><li>R->H at 1237: in dbSNP:rs7307793, MIM: 610188</li><li>I->V at 1836: in dbSNP:rs11104729, MIM: 610188</li>								Joubert syndrome type 5 (JBTS5) [MIM:610188]	<li>rs11104729</li><li>rs11104738</li><li>rs7970228</li><li>rs7307793</li>	2
O15083	26059		<li>N->S at 542: in dbSNP:rs12488237</li>									rs12488237	2
O15085	9826		<li>H->R at 1427: in dbSNP:rs945508</li>									rs945508	2
O15091	9692		<li>N->S at 437: in dbSNP:rs11156878</li>									rs11156878	2
O15119	6926		<li>L->P at 143: in UMS, MIM: 181450</li><li>Y->S at 149: in UMS, MIM: 181450</li>								Ulnar-mammary syndrome (UMS) [MIM:181450]		2
O15120	10555		<li>G->R at 136: in CGL1, MIM: 608594</li><li>Missing  at 140: in CGL1, MIM: 608594</li><li>L->P at 228: in CGL1, MIM: 608594</li><li>A->V at 239: in CGL1, MIM: 608594</li>							P10144	Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]		2
O15123	285		<li>V->I at 333: in dbSNP:rs7813215</li>									rs7813215	2
O15130	8620		<li>W->R at 88: in dbSNP:rs35822762</li>									rs35822762	2
O15131	3841		<li>F->L at 45: in a breast cancer sample; somatic mutation</li><li>R->S at 316: in a breast cancer sample; somatic mutation</li>										2
O15143	10095		<li>K->N at 37: in dbSNP:rs1045012</li>									rs1045012	2
O15146	4593		<li>A->G at 27: in dbSNP rsrs56054734</li><li>T->M at 100: in dbSNP rsrs35142681</li><li>G->E at 107: in dbSNP rsrs55786136</li><li>S->G at 159: in dbSNP:rs35176182</li><li>N->S at 222: in dbSNP rsrs55826142</li><li>M->I at 413: in dbSNP:rs2274419</li><li>L->F at 629: in dbSNP rsrs34267283</li><li>V->A at 644: in dbSNP rsrs41279055</li><li>N->S at 664: in dbSNP rsrs55963442</li><li>P->L at 696: in dbSNP rsrs56126328</li><li>E->D at 782: in dbSNP rsrs34614566</li><li>V->M at 790: in a case of congenital myasthenic syndrome; does not affect catalytic kinase activity; reduces protein expression and stability</li><li>N->S at 819: in a lung neuroendocrine carcinoma sample; somatic mutation</li><li>V->L at 829: in dbSNP:rs578430</li><li>R->H at 858: in dbSNP rsrs34115159</li>			kinase activity	GO:0016301					<li>rs2274419</li><li>rs56054734</li><li>rs55786136</li><li>rs34267283</li><li>rs578430</li><li>rs35142681</li><li>rs35176182</li><li>rs56126328</li><li>rs34614566</li><li>rs41279055</li><li>rs34115159</li><li>rs55963442</li><li>rs55826142</li>	2
O15164	8805		<li>I->T at 320: in an ovarian serous carcinoma sample; somatic mutation</li><li>T->N at 403: in a lung squamous cell carcinoma sample; somatic mutation</li><li>S->N at 762: in dbSNP rsrs35356723</li><li>N->S at 796: in dbSNP:rs35356723</li><li>R->S at 1009: in dbSNP rsrs34585297</li>									<li>rs35356723</li><li>rs34585297</li>	2
O15169	8312		<li>L->R at 106: in HCC, MIM: 114550</li><li>P->L at 345: in HCC, MIM: 114550</li><li>G->S at 425: in HCC, MIM: 114550</li><li>G->S at 650: in HCC and in hepatoblastoma, MIM: 114550</li><li>R->Q at 841: in hepatoblastoma: in dbSNP rsrs34015754, MIM: 114550</li>							<li>Q8T115</li><li>Q9NFL6</li>	Hepatocellular carcinoma (HCC) [MIM:114550]	rs34015754	2
O15178	6862		<li>G->D at 177: in dbSNP:rs2305089</li><li>G->S at 356: in dbSNP:rs3127328</li><li>V->M at 367: in dbSNP:rs35292451</li><li>N->S at 369: in dbSNP:rs3816300</li><li>E->K at 402: in dbSNP:rs34517945</li>									<li>rs35292451</li><li>rs3127328</li><li>rs3816300</li><li>rs34517945</li><li>rs2305089</li>	2
O15182	1070		<li>V->L at 10: in dbSNP:rs4873</li>									rs4873	2
O15194	10217		<li>S->P at 121</li><li>N->S at 127</li><li>V->G at 132</li>										2
O15195	50853		<li>F->L at 610: in dbSNP:rs1892814</li><li>L->F at 740: in dbSNP:rs9816693</li>									<li>rs1892814</li><li>rs9816693</li>	2
O15197	2051		<li>G->S at 122: in dbSNP:rs8177173</li><li>S->T at 170</li><li>A->V at 221</li><li>P->H at 282</li><li>P->R at 282: in dbSNP:rs8177143</li><li>R->Q at 309</li><li>S->A at 324: in dbSNP:rs8177146</li><li>S->L at 332</li><li>D->N at 360: in a colorectal cancer sample; somatic mutation</li><li>R->Q at 499: in dbSNP:rs8177175</li><li>A->P at 603: in a colorectal cancer sample; somatic mutation</li><li>A->V at 662</li><li>R->Q at 719: in a colorectal cancer sample; somatic mutation</li><li>P->S at 743: in an ovarian mucinous carcinoma sample; somatic mutation</li><li>R->H at 813</li><li>E->K at 875: in a glioblastoma multiforme sample; somatic mutation</li><li>D->G at 930: in a colorectal cancer sample; somatic mutation</li><li>I->V at 993</li>									<li>rs8177143</li><li>rs8177146</li><li>rs8177175</li><li>rs8177173</li>	2
O15204	27299		<li>M->T at 121: in dbSNP:rs7007084</li><li>N->S at 444: in dbSNP:rs3765124</li>									<li>rs3765124</li><li>rs7007084</li>	2
O15205	10537		<li>L->S at 51: in dbSNP:rs2076484</li><li>I->T at 68: in dbSNP:rs2076485</li><li>S->P at 95: in dbSNP:rs2076486</li><li>A->G at 99: in dbSNP:rs2076487</li><li>E->K at 120: in dbSNP:rs17184290</li><li>S->C at 160: in dbSNP:rs8337</li><li>C->F at 162: in dbSNP:rs7757931</li>									<li>rs17184290</li><li>rs8337</li><li>rs7757931</li><li>rs2076485</li><li>rs2076484</li><li>rs2076487</li><li>rs2076486</li>	2
O15209	9278		<li>T->A at 310: in dbSNP rsrs3130100</li>									rs3130100	2
O15211	5863		<li>P->L at 598: in dbSNP:rs34022110</li><li>G->E at 705: in dbSNP:rs35273540</li>									<li>rs35273540</li><li>rs34022110</li>	2
O15213	9277		<li>A->T at 94: in dbSNP:rs3130257</li><li>S->Y at 124: in dbSNP:rs34704405</li><li>V->A at 341: in dbSNP:rs14398</li>									<li>rs14398</li><li>rs34704405</li><li>rs3130257</li>	2
O15217	2941		<li>L->P at 100: in dbSNP rsrs45551133</li><li>T->A at 163: in dbSNP:rs4147617</li>									<li>rs4147617</li><li>rs45551133</li>	2
O15218	11318		<li>C->R at 349: in dbSNP:rs35493121</li>									rs35493121	2
O15228	8443		<li>R->C at 211: in RCDP2: in dbSNP rsrs28939697, MIM: 222765</li><li>R->H at 211: in RCDP2; complete loss of activity: in dbSNP rsrs28939696, MIM: 222765</li><li>V->I at 495: in dbSNP:rs11122266, MIM: 222765</li><li>D->G at 519: in RCDP2; 70% reduction in activity; dbSNP:rs11558492, MIM: 222765</li><li>Y->H at 586: in dbSNP:rs17849315, MIM: 222765</li>								Rhizomelic chondrodysplasia punctata type 2 (RCDP2) [MIM:222765]	<li>rs17849315</li><li>rs28939696</li><li>rs11558492</li><li>rs28939697</li><li>rs11122266</li>	2
O15229	8564		<li>R->C at 452: in dbSNP:rs1053230</li>									rs1053230	2
O15230	3911		<li>T->A at 401: in dbSNP:rs4925229</li><li>V->M at 889: in dbSNP:rs6062223</li><li>M->T at 1258: in dbSNP:rs3810548</li><li>K->E at 1367: in dbSNP:rs2427286</li><li>G->A at 1434: in dbSNP:rs17750870</li><li>R->W at 1667: in dbSNP:rs13039398</li><li>T->M at 1671: in dbSNP:rs944893</li><li>H->Y at 1717: in dbSNP:rs875379</li><li>F->S at 1807: in dbSNP:rs2427284</li><li>M->V at 1900: in dbSNP:rs2427283</li><li>A->T at 1908: in dbSNP:rs11698080</li><li>H->R at 2036: in dbSNP:rs6143021</li><li>R->H at 2053: in dbSNP:rs3737137</li><li>D->N at 2062: in dbSNP:rs2274934</li><li>R->H at 2226: in dbSNP:rs2297587</li><li>W->R at 3079: in dbSNP:rs944895</li>									<li>rs2274934</li><li>rs2427283</li><li>rs944895</li><li>rs2427284</li><li>rs13039398</li><li>rs944893</li><li>rs11698080</li><li>rs2427286</li><li>rs4925229</li><li>rs6062223</li><li>rs17750870</li><li>rs875379</li><li>rs3737137</li><li>rs6143021</li><li>rs2297587</li><li>rs3810548</li>	2
O15232	4148		<li>P->S at 11</li><li>R->H at 70: in EDM5, MIM: 607078</li><li>F->S at 105: in EDM5, MIM: 607078</li><li>T->M at 120: in EDM5; retained and accumulates within the cell, MIM: 607078</li><li>R->W at 121: in EDM5; retained and accumulates within the cell, MIM: 607078</li><li>A->P at 128: in EDM5; bilateral hereditary microepiphyseal dysplasia, MIM: 607078</li><li>E->K at 134: in EDM5; retained and accumulates within the cell, MIM: 607078</li><li>I->N at 192: in EDM5; retained and accumulates within the cell, MIM: 607078</li><li>V->D at 194: in EDM5; retained and accumulates within the cell, MIM: 607078</li><li>T->K at 195: in EDM5, MIM: 607078</li><li>Y->N at 218: in EDM5, MIM: 607078</li><li>A->D at 219: in EDM5; retained and accumulates within the cell; dbSNP:rs28939677, MIM: 607078</li><li>E->K at 252: secreted normally as the wild-type; dbSNP:rs52826764, MIM: 607078</li><li>T->M at 303: associated with OS2; may influence the phenotype severity in a multiple epiphyseal dysplasia patient carrying M-120: in dbSNP rsrs28939676, MIM: 607078</li><li>C->S at 304: in SEMD bowed-legs type, MIM: 608728</li>								<li>Spondyloepimetaphyseal dysplasia bowed-legs type (SEMD bowed-legs type) [MIM:608728]</li><li>Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]</li>	<li>rs52826764</li><li>rs28939677</li><li>rs28939676</li>	2
O15235	6183		<li>H->R at 8: in dbSNP:rs33988199</li>									rs33988199	2
O15239	4694		<li>G->R at 8: in MELAS</li><li>G->R at 32: in dbSNP:rs1801316</li><li>R->S at 37: in MELAS</li><li>R->C at 53: in a colorectal cancer sample; somatic mutation</li>									rs1801316	2
O15244	6582		<li>P->S at 54: in dbSNP:rs8177504</li><li>M->I at 165: lower Vmax</li><li>T->M at 201</li><li>A->S at 270: increased Ki value for TBA inhibition of MPP; dbSNP:rs316019</li><li>A->G at 297: in dbSNP:rs8177513</li><li>R->C at 400: lower Vmax and reduced Ki value for TBA inhibition of MPP; dbSNP:rs8177516</li><li>K->Q at 432: lower Km value for MPP and reduced Ki value for TBA inhibition of MPP; dbSNP:rs8177517</li><li>R->K at 463: in dbSNP:rs3907239</li>							<li>Q6WEB5</li><li>Q9FT36</li><li>P10522</li><li>P37301</li><li>P27573</li><li>P06907</li><li>P29677</li><li>P25189</li><li>P20938</li>		<li>rs8177513</li><li>rs8177504</li><li>rs8177517</li><li>rs8177516</li><li>rs316019</li><li>rs3907239</li>	2
O15254	8310		<li>E->A at 34: in dbSNP:rs12513296</li><li>D->N at 497: in dbSNP:rs13434465</li>									<li>rs12513296</li><li>rs13434465</li>	2
O15255	8933		<li>S->W at 152: in dbSNP:rs5930670</li>									rs5930670	2
O15259	4867		<li>G->R at 342: in NPHP1; associated with Cogan-type congenital ocular motor apraxia, MIM: 256100</li>							<li>O15259</li><li>Q9TU19</li>	Nephronophthisis type 1 (NPHP1) [MIM:256100]		2
O15265	6314		<li>K->R at 264: in dbSNP:rs1053338</li><li>I->V at 573: in dbSNP:rs3733124</li><li>P->S at 663: in dbSNP:rs1053340</li><li>V->M at 862: in dbSNP:rs3774729</li>									<li>rs1053338</li><li>rs3774729</li><li>rs3733124</li><li>rs1053340</li>	2
O15266	6473		<li>L->V at 132: in LWD, MIM: 127300</li><li>R->L at 153: in LWD, MIM: 127300</li><li>R->W at 168: in LMD, MIM: 249700</li><li>R->C at 173: in LWD, MIM: 127300</li>								<li>Leri-Weill dyschondrosteosis (LWD) [MIM:127300]</li><li>Langer mesomelic dysplasia (LMD) [MIM:249700]</li>		2
O15269	10558		<li>C->W at 133: in HSAN1, MIM: 162400</li><li>C->Y at 133: in HSAN1, MIM: 162400</li><li>V->D at 144: in HSAN1, MIM: 162400</li><li>R->L at 151: in dbSNP:rs45461899, MIM: 162400</li><li>R->W at 239: in a breast cancer sample; somatic mutation, MIM: 162400</li><li>G->A at 387: in HSAN1, MIM: 162400</li>								Hereditary sensory and autonomic neuropathy type 1 (HSAN1) [MIM:162400]	rs45461899	2
O15273	8557		<li>Missing  at 13: rare polymorphism; could be asssociated with CMD1N</li><li>R->W at 70: in CMD1N, MIM: 607487</li><li>L->H at 74: in dbSNP:rs17851031, MIM: 607487</li><li>R->Q at 87: in CMD1N, MIM: 607487</li><li>P->L at 90: in CMD1N, MIM: 607487</li><li>R->C at 106: in dbSNP:rs45578741, MIM: 607487</li><li>E->Q at 132: in CMD1N; impairs the interaction with MLP, TTN and MYOZ2, MIM: 607487</li><li>T->I at 137: in CMH; augments the ability to imteract with TTN and MYOZ2, MIM: 192600</li><li>R->H at 153: in CMH, MIM: 192600</li>							<li>P98089</li><li>P11030</li><li>Q5E9V3</li><li>P56924</li><li>P50461</li><li>Q5R6I2</li><li>Q8WZ42</li><li>Q9NPC6</li><li>P35566</li><li>P49006</li>	<li>Cardiomyopathy familial hypertrophic (CMH) [MIM:192600]</li><li>Cardiomyopathy dilated type 1N (CMD1N) [MIM:607487]</li>	<li>rs45578741</li><li>rs17851031</li>	2
O15287	2189		<li>L->P at 71: in FA; associated with a mild clinical phenotype, MIM: 227650</li><li>G->E at 294: in dbSNP:rs17880082, MIM: 227650</li><li>T->I at 297: in dbSNP:rs2237857, MIM: 227650</li><li>P->S at 330: in dbSNP:rs4986940, MIM: 227650</li><li>S->L at 378: in dbSNP:rs4986939, MIM: 227650</li><li>K->E at 430: in dbSNP:rs17881054, MIM: 227650</li><li>R->Q at 513: in dbSNP:rs17885240, MIM: 227650</li><li>S->F at 603: in dbSNP:rs17878854, MIM: 227650</li><li>A->T at 607: in a colorectal cancer sample; somatic mutation, MIM: 227650</li>								Fanconi anemia (FA) [MIM:227650]	<li>rs17881054</li><li>rs17878854</li><li>rs2237857</li><li>rs17880082</li><li>rs4986939</li><li>rs17885240</li><li>rs4986940</li>	2
O15296	247		<li>I->V at 647: in dbSNP:rs7225107</li><li>R->Q at 656: in dbSNP:rs4792147</li><li>I->V at 676: in dbSNP:rs7225107</li>									<li>rs7225107</li><li>rs4792147</li>	2
O15303			<li>G->S at 150: in CSNB1B, MIM: 257270</li><li>S->F at 191: in a breast cancer sample; somatic mutation, MIM: 257270</li><li>E->K at 781: in CSNB1B, MIM: 257270</li>								Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]		2
O15305	5373		<li>C->Y at 9: in CDG1A, MIM: 212065</li><li>F->C at 11: in CDG1A, MIM: 212065</li><li>G->E at 15: in CDG1A, MIM: 212065</li><li>P->S at 20: in CDG1A; reduction of activity, MIM: 212065</li><li>L->R at 32: in CDG1A, MIM: 212065</li><li>Q->H at 37: in CDG1A; partial loss of activity, MIM: 212065</li><li>Q->L at 37: in dbSNP:rs2304472, MIM: 212065</li><li>G->R at 42, MIM: 212065</li><li>V->A at 44: in CDG1A, MIM: 212065</li><li>V->L at 44: in CDG1A, MIM: 212065</li><li>Y->C at 64: in CDG1A, MIM: 212065</li><li>D->Y at 65: in CDG1A, MIM: 212065</li><li>V->M at 67: in CDG1A, MIM: 212065</li><li>P->S at 69: in CDG1A, MIM: 212065</li><li>Y->C at 76: in CDG1A, MIM: 212065</li><li>E->A at 93: in CDG1A, MIM: 212065</li><li>N->K at 101: in CDG1A, MIM: 212065</li><li>C->F at 103: in CDG1A, MIM: 212065</li><li>L->V at 104: in CDG1A, MIM: 212065</li><li>Y->C at 106: in CDG1A, MIM: 212065</li><li>A->V at 108: in CDG1A, MIM: 212065</li><li>P->L at 113: in CDG1A, MIM: 212065</li><li>G->R at 117: in CDG1A; loss of activity, MIM: 212065</li><li>F->L at 119: in CDG1A; partial loss of activity, MIM: 212065</li><li>I->T at 120: in CDG1A, MIM: 212065</li><li>R->Q at 123: in CDG1A, MIM: 212065</li><li>V->M at 129: in CDG1A: in dbSNP rsrs28938475, MIM: 212065</li><li>P->A at 131: in CDG1A, MIM: 212065</li><li>I->F at 132: in CDG1A; slightly reduced activity, MIM: 212065</li><li>I->N at 132: in CDG1A, MIM: 212065</li><li>I->T at 132: in CDG1A, MIM: 212065</li><li>E->K at 139: in CDG1A; this mutation seems to disrupt a splicing enhancer sequence and thus results in most cases in a protein with exon 5 skipped; slightly reduced activity, MIM: 212065</li><li>R->C at 141: in CDG1A; loss of activity, MIM: 212065</li><li>R->H at 141: in CDG1A; frequent mutation; loss of activity; observed in heterozygous patients; homozygosis of this mutation is incompatible with life: in dbSNP rsrs28936415, MIM: 212065</li><li>F->L at 144: in CDG1A, MIM: 212065</li><li>D->N at 148: in CDG1A, MIM: 212065</li><li>E->G at 151: in CDG1A, MIM: 212065</li><li>I->T at 153: in CDG1A, MIM: 212065</li><li>F->S at 157: in CDG1A, MIM: 212065</li><li>R->W at 162: in CDG1A, MIM: 212065</li><li>F->V at 172: in CDG1A, MIM: 212065</li><li>G->R at 175: in CDG1A, MIM: 212065</li><li>G->V at 176: in CDG1A; loss of activity, MIM: 212065</li><li>Q->H at 177: in CDG1A; partial loss of activity, MIM: 212065</li><li>F->S at 183: in CDG1A, MIM: 212065</li><li>D->G at 185: in CDG1A, MIM: 212065</li><li>D->G at 188: in CDG1A; severe, MIM: 212065</li><li>C->G at 192: in CDG1A; normal activity but lower affinity for alpha-D-mannose 1-phosphate, MIM: 212065</li><li>H->R at 195: in CDG1A, MIM: 212065</li><li>E->A at 197: in CDG1A; dbSNP:rs34258285, MIM: 212065</li><li>F->S at 206: in CDG1A, MIM: 212065</li><li>G->A at 208: in CDG1A, MIM: 212065</li><li>M->V at 212: in dbSNP:rs3743808, MIM: 212065</li><li>G->S at 214: in CDG1A, MIM: 212065</li><li>N->I at 216: in CDG1A, MIM: 212065</li><li>N->S at 216: in CDG1A, MIM: 212065</li><li>D->E at 217: in CDG1A, MIM: 212065</li><li>H->L at 218: in CDG1A, MIM: 212065</li><li>D->E at 223: in CDG1A; normal activity but lower affinity for alpha-D-mannose 1-phosphate, MIM: 212065</li><li>D->N at 223: in CDG1A, MIM: 212065</li><li>T->S at 226: in CDG1A, MIM: 212065</li><li>G->C at 228: in CDG1A, MIM: 212065</li><li>G->R at 228: in CDG1A, MIM: 212065</li><li>Y->S at 229: in CDG1A, MIM: 212065</li><li>V->M at 231: in CDG1A, MIM: 212065</li><li>A->T at 233: in CDG1A; could be a rare polymorphism, MIM: 212065</li><li>T->M at 237: in CDG1A, MIM: 212065</li><li>T->R at 237: in CDG1A; loss of activity, MIM: 212065</li><li>R->G at 238: in CDG1A, MIM: 212065</li><li>R->P at 238: in CDG1A, MIM: 212065</li><li>C->S at 241: in CDG1A, MIM: 212065</li>							<li>P35823</li><li>P07394</li><li>P98005</li><li>P03161</li><li>P15966</li><li>P03632</li><li>P25244</li><li>P25243</li><li>P03631</li><li>P03610</li>	Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	<li>rs28936415</li><li>rs3743808</li><li>rs2304472</li><li>rs34258285</li><li>rs28938475</li>	2
O15315	5890		<li>V->M at 9: in dbSNP:rs34583846</li><li>F->C at 82: in dbSNP:rs35282642</li><li>L->W at 172: in dbSNP:rs34094401</li><li>Y->C at 180: in dbSNP:rs28910275</li><li>V->L at 207: in dbSNP:rs28908168</li><li>K->R at 243: in dbSNP:rs34594234</li><li>S->A at 250: in dbSNP:rs33929366</li><li>P->R at 365: in dbSNP:rs28908468</li>									<li>rs34094401</li><li>rs33929366</li><li>rs34594234</li><li>rs28908168</li><li>rs28910275</li><li>rs28908468</li><li>rs34583846</li><li>rs35282642</li>	2
O15320	4253		<li>A->V at 6: in dbSNP:rs7140561</li><li>Y->D at 11: in dbSNP:rs17855895</li><li>K->N at 205: in dbSNP:rs17855896</li><li>K->E at 250: in dbSNP:rs10162564</li><li>E->Q at 360: in dbSNP:rs1950952</li><li>N->S at 375: in dbSNP:rs17109109</li><li>I->V at 699: in dbSNP:rs1140952</li><li>G->R at 738: in dbSNP:rs1060878</li>									<li>rs1060878</li><li>rs17109109</li><li>rs17855895</li><li>rs7140561</li><li>rs17855896</li><li>rs10162564</li><li>rs1140952</li><li>rs1950952</li>	2
O15321	10548		<li>L->M at 18: in dbSNP:rs11549700</li><li>R->H at 215: in dbSNP:rs10583</li>									<li>rs10583</li><li>rs11549700</li>	2
O15327	8821		<li>Y->F at 311: in dbSNP:rs1064226</li>									rs1064226	2
O15335	1101		<li>R->Q at 312: in dbSNP:rs35218093</li><li>T->I at 350: in dbSNP:rs2231510</li>									<li>rs35218093</li><li>rs2231510</li>	2
O15344	4281		<li>C->R at 266: in OS-I, MIM: 300000</li><li>L->P at 295: in OS-I, MIM: 300000</li><li>LC->R at 391-392: in OS-I, MIM: 300000</li><li>Missing  at 438: in OS-I, MIM: 300000</li><li>V->VFIDSGRHL at 534: in OS-I, MIM: 300000</li><li>I->T at 536: in OS-I, MIM: 300000</li><li>L->P at 626: in OS-I: in dbSNP rsrs28934611, MIM: 300000</li>								Opitz syndrome type I (OS-I) [MIM:300000]	rs28934611	2
O15347	3149		<li>T->A at 51: in dbSNP:rs16995792</li>									rs16995792	2
O15353	8456		<li>R->C at 69: in dbSNP:rs2071587</li><li>A->V at 283</li><li>R->W at 411: in dbSNP:rs2286520</li><li>A->P at 599: in dbSNP:rs532648</li>									<li>rs2071587</li><li>rs2286520</li><li>rs532648</li>	2
O15360	2175		<li>V->D at 6: in dbSNP:rs1800282</li><li>N->K at 8: in FA; could be a polymorphism, MIM: 227650</li><li>T->S at 131: in dbSNP:rs34491278, MIM: 227650</li><li>S->F at 176: in dbSNP:rs35566151, MIM: 227650</li><li>A->V at 181: in FA; dbSNP:rs17232246, MIM: 227650</li><li>L->R at 210: in FA, MIM: 227650</li><li>L->F at 244: in FA, MIM: 227650</li><li>D->G at 252: in FA; dbSNP:rs17225943, MIM: 227650</li><li>T->A at 266: in dbSNP:rs7190823, MIM: 227650</li><li>A->G at 277: in dbSNP:rs35880318, MIM: 227650</li><li>Q->R at 286: in dbSNP:rs13336566, MIM: 227650</li><li>A->V at 412: in dbSNP:rs11646374, MIM: 227650</li><li>R->C at 435: in FA, MIM: 227650</li><li>H->R at 492: in FA, MIM: 227650</li><li>G->S at 501: common polymorphism; dbSNP:rs2239359, MIM: 227650</li><li>D->N at 598: in FA, MIM: 227650</li><li>P->A at 643: in dbSNP:rs17232910, MIM: 227650</li><li>L->P at 660: in FA, MIM: 227650</li><li>P->L at 739: in dbSNP rsrs45441106, MIM: 227650</li><li>V->E at 761, MIM: 227650</li><li>G->D at 809: common polymorphism; dbSNP:rs7195066, MIM: 227650</li><li>L->P at 817: in FA, MIM: 227650</li><li>Y->D at 843: in FA, MIM: 227650</li><li>L->P at 845: in FA, MIM: 227650</li><li>S->R at 858: in FA; dbSNP:rs17233141, MIM: 227650</li><li>Q->P at 869: in FA, MIM: 227650</li><li>R->Q at 951, MIM: 227650</li><li>R->W at 951, MIM: 227650</li><li>R->L at 1055: in FA, MIM: 227650</li><li>R->W at 1055: in FA, MIM: 227650</li><li>L->P at 1082: in FA, MIM: 227650</li><li>S->F at 1088: in FA; dbSNP:rs17233497, MIM: 227650</li><li>H->P at 1110: in FA; loss of function, MIM: 227650</li><li>R->G at 1117: in FA; loss of function, MIM: 227650</li><li>Q->E at 1128: in FA, MIM: 227650</li><li>T->A at 1131: in FA, MIM: 227650</li><li>L->P at 1249: in FA; possibly hypomorphic allele, MIM: 227650</li><li>F->L at 1262: in FA, MIM: 227650</li><li>Missing  at 1263: in FA, MIM: 227650</li><li>V->I at 1287: in dbSNP:rs34360319, MIM: 227650</li><li>W->R at 1302: in FA, MIM: 227650</li><li>P->L at 1324: in FA, MIM: 227650</li><li>T->A at 1328: in dbSNP:rs9282681, MIM: 227650</li><li>A->T at 1346: in FA; uncertain pathological significance: in dbSNP rsrs17227396, MIM: 227650</li><li>D->Y at 1359: in FA, MIM: 227650</li><li>M->I at 1360: in FA, MIM: 227650</li><li>R->H at 1400: in FA; possibly hypomorphic allele, MIM: 227650</li><li>H->D at 1417: in FA; dbSNP:rs17227403, MIM: 227650</li>								Fanconi anemia (FA) [MIM:227650]	<li>rs17233497</li><li>rs13336566</li><li>rs35566151</li><li>rs9282681</li><li>rs7190823</li><li>rs35880318</li><li>rs17232910</li><li>rs2239359</li><li>rs17233141</li><li>rs45441106</li><li>rs11646374</li><li>rs7195066</li><li>rs17227396</li><li>rs17232246</li><li>rs17225943</li><li>rs17227403</li><li>rs1800282</li><li>rs34491278</li><li>rs34360319</li>	2
O15374	9122		<li>A->T at 185: in dbSNP:rs35157487</li><li>N->H at 264: in dbSNP:rs2271885</li>									<li>rs35157487</li><li>rs2271885</li>	2
O15379	8841		<li>N->S at 411: in dbSNP:rs34901743</li>									rs34901743	2
O15381	4931		<li>V->I at 295: in dbSNP:rs12084919</li><li>C->G at 359</li><li>V->I at 404: in dbSNP:rs34631151</li>									<li>rs34631151</li><li>rs12084919</li>	2
O15389	8778		<li>V->A at 72: in dbSNP:rs1973019</li><li>M->V at 215: in dbSNP:rs1807124</li><li>F->S at 322: in dbSNP:rs2278831</li><li>R->W at 358: in dbSNP:rs8108074</li><li>P->A at 499: in dbSNP:rs3829655</li>									<li>rs2278831</li><li>rs8108074</li><li>rs1807124</li><li>rs1973019</li><li>rs3829655</li>	2
O15391	404281		<li>D->N at 103: in a breast cancer sample; somatic mutation</li>										2
O15394	4685		<li>D->N at 347: in dbSNP:rs35654962</li><li>L->P at 350: in dbSNP:rs232518</li>									<li>rs232518</li><li>rs35654962</li>	2
O15399	2906		<li>P->S at 140: in a breast cancer sample; somatic mutation</li><li>G->R at 286: in a breast cancer sample; somatic mutation</li><li>E->G at 527: in a breast cancer sample; somatic mutation</li>										2
O15403	9120		<li>I->T at 121: in dbSNP:rs35397826</li><li>F->I at 204: in dbSNP:rs7222013</li><li>E->D at 217: in dbSNP:rs3744307</li><li>E->V at 221: in dbSNP:rs4410141</li>									<li>rs7222013</li><li>rs35397826</li><li>rs4410141</li><li>rs3744307</li>	2
O15409	93986		<li>R->H at 553: in SPCH1, MIM: 602081</li>								Speech-language disorder 1 (SPCH1) [MIM:602081]		2
O15417	84629		<li>A->G at 1193: in dbSNP:rs12671708</li>									rs12671708	2
O15431	1317		<li>P->A at 25: in dbSNP:rs2233915</li>									rs2233915	2
O15438	8714		<li>G->D at 11: in dbSNP:rs11568609</li><li>S->F at 346: in dbSNP:rs11568605</li><li>R->G at 1286: in dbSNP:rs11568593</li><li>R->H at 1297: in dbSNP:rs11568591</li><li>Q->R at 1365: in dbSNP:rs11568590</li><li>R->S at 1381: in dbSNP:rs45461799</li>									<li>rs11568590</li><li>rs11568605</li><li>rs11568591</li><li>rs11568609</li><li>rs45461799</li><li>rs11568593</li>	2
O15439	10257		<li>L->I at 18: in dbSNP:rs11568681</li><li>P->A at 78: in dbSNP:rs11568689</li><li>C->G at 171: in dbSNP:rs4148460</li><li>M->T at 184: in dbSNP:rs45454092</li><li>G->W at 187: transport properties comparable to wild-type; dbSNP:rs11568658</li><li>K->E at 293: in dbSNP:rs11568684</li><li>K->N at 304: transport properties comparable to wild-type; dbSNP:rs2274407</li><li>T->M at 356: in dbSNP:rs11568701</li><li>P->L at 403: in dbSNP:rs11568705</li><li>G->E at 487: transport properties comparable to wild-type; dbSNP:rs11568668</li><li>K->E at 498: in dbSNP:rs11568669</li><li>Y->C at 556: 40% reduced expression level compared to wild-type; higher transport of 9-</li><li>I->M at 625: in dbSNP:rs11568699</li><li>P->L at 667: in dbSNP:rs11568697</li><li>M->V at 744: in dbSNP:rs9282570</li><li>E->K at 757: 10% reduced expression level compared to wild-type; transport properties comparable to wild-type; dbSNP:rs3765534</li><li>V->I at 776: 20% reduced expression level compared to wild-type; significant lower activity in 6-mercaptopurine transport than wild-type</li><li>R->I at 820: transport properties comparable to wild-type; dbSNP:rs11568659</li><li>V->F at 854: transport properties comparable to wild-type: in dbSNP rsrs11568694</li><li>V->M at 860: in dbSNP:rs45477596</li><li>I->V at 866: transport properties comparable to wild-type</li><li>V->L at 900: in dbSNP:rs45504892</li><li>T->M at 1142: 10% reduced expression level compared to wild-type; transport properties comparable to wild-type</li>	transport	GO:0006810							<li>rs11568694</li><li>rs11568684</li><li>rs45477596</li><li>rs11568681</li><li>rs11568697</li><li>rs9282570</li><li>rs45454092</li><li>rs45504892</li><li>rs11568701</li><li>rs11568705</li><li>rs3765534</li><li>rs11568689</li><li>rs11568658</li><li>rs11568699</li><li>rs4148460</li><li>rs11568659</li><li>rs11568668</li><li>rs11568669</li>	2
O15444	6370		<li>T->A at 23: in dbSNP:rs960173</li><li>H->R at 101: in dbSNP:rs2032887</li><li>T->M at 104: in dbSNP:rs1129763</li>									<li>rs960173</li><li>rs1129763</li><li>rs2032887</li>	2
O15446	10849		<li>K->T at 259: in dbSNP:rs735482</li><li>T->A at 282: in dbSNP:rs3212989</li><li>K->E at 373: in dbSNP:rs762562</li><li>D->N at 394: in dbSNP:rs2336219</li><li>K->Q at 503: in dbSNP:rs3212986</li><li>Q->K at 504: in dbSNP:rs3212986</li>									<li>rs735482</li><li>rs3212986</li><li>rs2336219</li><li>rs762562</li><li>rs3212989</li>	2
O15453			<li>Q->E at 102: in dbSNP:rs11657835</li>									rs11657835	2
O15457	4438		<li>A->V at 60: in dbSNP:rs5745311</li><li>A->T at 90: in dbSNP:rs5745324</li><li>A->T at 97: in dbSNP:rs5745325</li><li>E->K at 162: in dbSNP:rs5745329</li><li>Y->C at 589: in dbSNP:rs5745459</li><li>S->N at 914: in dbSNP:rs5745549</li>									<li>rs5745324</li><li>rs5745325</li><li>rs5745549</li><li>rs5745329</li><li>rs5745311</li><li>rs5745459</li>	2
O15479	4113		<li>K->E at 61: in dbSNP:rs2529541</li><li>G->R at 318: in dbSNP:rs5972090</li>									<li>rs5972090</li><li>rs2529541</li>	2
O15480	4114		<li>R->H at 107: in dbSNP:rs2071308</li><li>I->T at 112: in dbSNP:rs2071309</li>									<li>rs2071309</li><li>rs2071308</li>	2
O15499	2928		<li>R->C at 47: in dbSNP rsrs34341950</li>									rs34341950	2
O15504	11097		<li>D->N at 391: in dbSNP:rs13243961</li><li>K->N at 392: in dbSNP:rs34902971</li>									<li>rs34902971</li><li>rs13243961</li>	2
O15520	2255		<li>C->F at 106: in LADDS, MIM: 149730</li><li>I->R at 156: in LADDS, MIM: 149730</li>								Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]		2
O15522	26257		<li>D->A at 16</li>										2
O15528	1594		<li>Q->H at 65: in VDDR I</li><li>R->H at 107: in VDDR I; complete loss of activity: in dbSNP rsrs28934604</li><li>G->E at 125: in VDDR I; complete loss of activity: in dbSNP rsrs28934605</li><li>V->L at 166: in dbSNP:rs8176344</li><li>E->G at 189: in VDDR I; 22% of wild-type activity</li><li>E->K at 189: in VDDR I; 11% of wild-type activity</li><li>T->R at 321: in VDDR I; complete loss of activity</li><li>S->Y at 323: in VDDR I</li><li>R->P at 335: in VDDR I; complete loss of activity: in dbSNP rsrs28934606</li><li>L->F at 343: in VDDR I; 2.3% of wild-type activity</li><li>P->S at 382: in VDDR I; complete loss of activity: in dbSNP rsrs28934607</li><li>R->C at 389: in VDDR I; complete loss of activity</li><li>R->G at 389: in VDDR I; complete loss of activity</li><li>R->H at 389: in VDDR I; complete loss of activity</li><li>T->I at 409: in VDDR I</li><li>R->P at 429: in VDDR I</li><li>R->C at 453: in VDDR I</li><li>V->G at 478: in VDDR I</li><li>P->R at 497: in VDDR I</li>									<li>rs28934607</li><li>rs28934605</li><li>rs28934606</li><li>rs28934604</li><li>rs8176344</li>	2
O15533	6892		<li>R->T at 260: in allele TAPBP*02; dbSNP:rs2071888</li>							<li>Q6PZD2</li><li>Q5TJE4</li><li>O73895</li><li>O15533</li>		rs2071888	2
O15534	5187		<li>E->Q at 696: in a breast cancer sample; somatic mutation</li><li>A->P at 962: in dbSNP:rs2585405</li><li>R->H at 968: in dbSNP:rs3027193</li><li>N->S at 985: in a breast cancer sample; somatic mutation</li><li>S->L at 1060: in a colorectal cancer sample; somatic mutation</li>									<li>rs3027193</li><li>rs2585405</li>	2
O15537	6247		<li>L->H at 12: in XLRS1, MIM: 312700</li><li>L->P at 13: in XLRS1, MIM: 312700</li><li>C->S at 59: in XLRS1, MIM: 312700</li><li>Y->C at 65: in XLRS1, MIM: 312700</li><li>G->A at 70: in XLRS1, MIM: 312700</li><li>G->S at 70: in XLRS1, MIM: 312700</li><li>E->D at 72: in XLRS1, MIM: 312700</li><li>E->K at 72: in XLRS1, MIM: 312700</li><li>G->V at 74: in XLRS1, MIM: 312700</li><li>Missing  at 85: in XLRS1, MIM: 312700</li><li>Y->C at 89: in XLRS1, MIM: 312700</li><li>W->R at 96: in XLRS1, MIM: 312700</li><li>A->E at 98: in XLRS1, MIM: 312700</li><li>R->Q at 102: in XLRS1, MIM: 312700</li><li>R->W at 102: in XLRS1, MIM: 312700</li><li>L->R at 103: in XLRS1, MIM: 312700</li><li>F->C at 108: in XLRS1, MIM: 312700</li><li>G->E at 109: in XLRS1, MIM: 312700</li><li>G->R at 109: in XLRS1, MIM: 312700</li><li>G->W at 109: in XLRS1, MIM: 312700</li><li>C->Y at 110: in XLRS1, MIM: 312700</li><li>W->C at 112: in XLRS1, MIM: 312700</li><li>L->F at 113: in XLRS1, MIM: 312700</li><li>L->P at 127: in XLRS1, MIM: 312700</li><li>G->V at 135: in XLRS1, MIM: 312700</li><li>I->T at 136: in XLRS1, MIM: 312700</li><li>T->A at 138: in XLRS1, MIM: 312700</li><li>G->E at 140: in XLRS1, MIM: 312700</li><li>G->R at 140: in XLRS1, MIM: 312700</li><li>R->C at 141: in XLRS1, MIM: 312700</li><li>R->G at 141: in XLRS1, MIM: 312700</li><li>R->H at 141: in XLRS1, MIM: 312700</li><li>C->W at 142: in XLRS1, MIM: 312700</li><li>D->V at 143: in XLRS1, MIM: 312700</li><li>E->D at 146: in XLRS1, MIM: 312700</li><li>E->K at 146: in XLRS1, MIM: 312700</li><li>Y->C at 155: in XLRS1, MIM: 312700</li><li>D->N at 158: in dbSNP:rs1800002, MIM: 312700</li><li>W->C at 163: in XLRS1, MIM: 312700</li><li>G->D at 178: in XLRS1, MIM: 312700</li><li>R->C at 182: in XLRS1, MIM: 312700</li><li>P->R at 192: in XLRS1, MIM: 312700</li><li>P->S at 192: in XLRS1, MIM: 312700</li><li>P->L at 193: in XLRS1, MIM: 312700</li><li>P->S at 193: in XLRS1, MIM: 312700</li><li>R->C at 197: in XLRS1, MIM: 312700</li><li>R->H at 197: in XLRS1, MIM: 312700</li><li>I->T at 199: in XLRS1, MIM: 312700</li><li>R->C at 200: in XLRS1, MIM: 312700</li><li>R->H at 200: in XLRS1, MIM: 312700</li><li>P->L at 203: in XLRS1, MIM: 312700</li><li>H->Q at 207: in XLRS1, MIM: 312700</li><li>R->H at 209: in XLRS1, MIM: 312700</li><li>R->W at 213: in XLRS1, MIM: 312700</li><li>E->K at 215: in XLRS1, MIM: 312700</li><li>E->Q at 215: in XLRS1, MIM: 312700</li><li>L->P at 216: in XLRS1, MIM: 312700</li><li>C->G at 219: in XLRS1, MIM: 312700</li><li>C->R at 219: in XLRS1, MIM: 312700</li><li>K->N at 222: in dbSNP:rs1800004, MIM: 312700</li><li>C->R at 223: in XLRS1, MIM: 312700</li>							<li>Q9W6R5</li><li>O15537</li>	X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	<li>rs1800004</li><li>rs1800002</li>	2
O15540	2173		<li>T->M at 61: in dbSNP:rs2279381</li>									rs2279381	2
O15547	9127		<li>R->H at 232: in dbSNP:rs2277838</li>									rs2277838	2
O15552	2867		<li>L->H at 211: in dbSNP:rs409093</li>									rs409093	2
O15553	4210		<li>V->L at 33: in dbSNP:rs11466016</li><li>R->W at 42: in arFMF, MIM: 249100</li><li>S->R at 108: in arFMF, MIM: 249100</li><li>L->P at 110: in arFMF; dbSNP:rs11466018, MIM: 249100</li><li>G->A at 138: association with renal amyloidosis, MIM: 249100</li><li>E->Q at 148: in arFMF and adFMF; common mutation; associated with S-369 and Q-408 in cis; associated with I-694 in some patients; dbSNP:rs3743930, MIM: 249100</li><li>E->V at 148: in arFMF, MIM: 249100</li><li>E->A at 163: in arFMF, MIM: 249100</li><li>E->D at 167: in arFMF, MIM: 249100</li><li>T->I at 177: in arFMF, MIM: 249100</li><li>R->Q at 202: in dbSNP:rs224222, MIM: 249100</li><li>E->K at 230: in arFMF, MIM: 249100</li><li>T->I at 267: in arFMF, MIM: 249100</li><li>E->K at 319: in arFMF, MIM: 249100</li><li>P->S at 369: in arFMF; reduced penetrance among Ashkenazi Jews; associated with Q-148 and Q-408 in cis; could be a polymorphism; dbSNP:rs11466023, MIM: 249100</li><li>R->Q at 408: in arFMF; associated with Q-148 and S-369 in cis; could be a polymorphism; dbSNP:rs11466024, MIM: 249100</li><li>Q->E at 440: in dbSNP:rs11466026, MIM: 249100</li><li>E->K at 474: in arFMF, MIM: 249100</li><li>H->Y at 478: in adFMF; severe, MIM: 134610</li><li>F->L at 479: in arFMF, MIM: 249100</li><li>F->L at 585: in dbSNP:rs11466043, MIM: 249100</li><li>I->T at 591: in arFMF; could be a polymorphism; dbSNP:rs11466045, MIM: 249100</li><li>G->S at 632: in arFMF, MIM: 249100</li><li>I->M at 640: in arFMF, MIM: 249100</li><li>I->F at 641: in arFMF, MIM: 249100</li><li>P->L at 646: in arFMF, MIM: 249100</li><li>L->P at 649: in arFMF, MIM: 249100</li><li>R->H at 653: in arFMF, MIM: 249100</li><li>E->A at 656: in arFMF, MIM: 249100</li><li>D->N at 661: in arFMF, MIM: 249100</li><li>S->N at 675: in arFMF, MIM: 249100</li><li>G->E at 678: in arFMF, MIM: 249100</li><li>M->I at 680: in arFMF and adFMF; dbSNP:rs28940580, MIM: 249100</li><li>M->L at 680: in arFMF, MIM: 249100</li><li>T->I at 681: in arFMF, MIM: 249100</li><li>Y->C at 688: in arFMF, MIM: 249100</li><li>Missing  at 692: in arFMF, MIM: 249100</li><li>M->I at 694: in arFMF and adFMF; associated with Q-148 in some patients; dbSNP:rs28940578, MIM: 249100</li><li>M->L at 694: in arFMF, MIM: 249100</li><li>M->V at 694: in arFMF and adFMF; very common mutation particularly in North African Jews; can be associated with amyloidosis development, MIM: 249100</li><li>Missing  at 694: in arFMF and adFMF, MIM: 249100</li><li>K->M at 695: in arFMF, MIM: 249100</li><li>K->R at 695: in arFMF; reduced penetrance among Ashkenazi Jews, MIM: 249100</li><li>S->C at 702: in one patient with familial Mediterranean fever, MIM: 249100</li><li>V->I at 704: in arFMF, MIM: 249100</li><li>P->S at 705: in arFMF, MIM: 249100</li><li>I->M at 720: in arFMF, MIM: 249100</li><li>V->A at 726: in arFMF; common mutation; in Iraqi and Ashkenazi Jews, Druze, Armenians; dbSNP:rs28940579, MIM: 249100</li><li>F->L at 743: in arFMF, MIM: 249100</li><li>A->S at 744: in arFMF; uncertain pathological significance, MIM: 249100</li><li>P->S at 758: in arFMF, MIM: 249100</li><li>R->H at 761: in arFMF, MIM: 249100</li><li>P->T at 780: in arFMF, MIM: 249100</li>	<li>fever</li><li>development</li>	<li>GO:0001660</li><li>GO:0007275</li>					Q62225	<li>Familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610]</li><li>Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]</li>	<li>rs11466018</li><li>rs28940580</li><li>rs28940578</li><li>rs28940579</li><li>rs11466043</li><li>rs3743930</li><li>rs11466026</li><li>rs11466045</li><li>rs11466016</li><li>rs11466023</li><li>rs224222</li><li>rs11466024</li>	2
O42043			<li>C->Y at 97: in allele HERV-K18.1 and allele HERV-K18.3</li><li>Missing  at 155-560: in allele HERV-K18.1</li><li>V->I at 272: in allele HERV-K18.3</li><li>V->I at 348: in allele HERV-K18.3</li><li>V->I at 534: in allele HERV-K18.3</li>							<li>Q5BJY9</li><li>P08802</li><li>P05783</li><li>P05784</li>			2
O43147	9905		<li>L->M at 63: in dbSNP:rs17853891</li><li>R->K at 238: in dbSNP:rs745400</li><li>R->S at 244: in dbSNP:rs17853888</li><li>H->R at 329: in dbSNP:rs17857178</li><li>R->Q at 374: in dbSNP:rs2248821</li><li>D->V at 968: in dbSNP:rs17857180</li>									<li>rs17857180</li><li>rs17853891</li><li>rs2248821</li><li>rs17853888</li><li>rs17857178</li><li>rs745400</li>	2
O43149	23140		<li>V->A at 30: in dbSNP:rs1454121</li><li>I->V at 1021: in dbSNP:rs16953687</li><li>S->A at 1437: in dbSNP:rs4790555</li><li>L->P at 1972: in dbSNP:rs781852</li><li>I->V at 2014: in dbSNP:rs781831</li><li>P->S at 2051: in dbSNP:rs1006954</li><li>Y->H at 2301: in dbSNP:rs34357158</li><li>L->P at 2303: in dbSNP:rs35638819</li><li>E->Q at 2369: in dbSNP:rs711177</li><li>A->T at 2421: in dbSNP:rs781861</li>									<li>rs1006954</li><li>rs781861</li><li>rs711177</li><li>rs34357158</li><li>rs781831</li><li>rs4790555</li><li>rs35638819</li><li>rs781852</li><li>rs1454121</li><li>rs16953687</li>	2
O43155	23768		<li>R->Q at 486: in dbSNP:rs17646457</li>									rs17646457	2
O43156	9675		<li>R->H at 450: in dbSNP:rs36059660</li><li>A->V at 671: in dbSNP:rs1057238</li><li>K->E at 751: in dbSNP:rs6091654</li><li>A->T at 979: in dbSNP:rs1064275</li><li>R->K at 1028: in dbSNP:rs34900517</li>									<li>rs36059660</li><li>rs34900517</li><li>rs6091654</li><li>rs1057238</li><li>rs1064275</li>	2
O43159	23378		<li>A->P at 145: in dbSNP:rs11040934</li><li>P->S at 329: in dbSNP:rs17834692</li>									<li>rs11040934</li><li>rs17834692</li>	2
O43164	9867		<li>R->Q at 297: in dbSNP:rs1045706</li><li>A->T at 705: in dbSNP:rs246105</li>									<li>rs1045706</li><li>rs246105</li>	2
O43166	26037		<li>P->T at 56: in dbSNP:rs12884638</li><li>E->D at 996: in a breast cancer sample; somatic mutation</li>									rs12884638	2
O43173	51046		<li>K->T at 91: in dbSNP:rs3745060</li>									rs3745060	2
O43175	26227		<li>V->M at 425: in PHGDH deficiency, MIM: 601815</li><li>V->M at 490: in PHGDH deficiency, MIM: 601815</li>							<li>Q5R7M2</li><li>Q5EAD2</li><li>O43175</li><li>Q60HD7</li>	Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815]		2
O43181	4724		<li>T->P at 174: in dbSNP:rs1044692</li>									rs1044692	2
O43182	395		<li>D->E at 791: in dbSNP:rs1009758</li>									rs1009758	2
O43184	8038		<li>G->R at 48: in dbSNP:rs3740199</li><li>D->H at 301: in a breast cancer sample; somatic mutation</li><li>G->E at 479: in a breast cancer sample; somatic mutation</li><li>L->F at 792: in a breast cancer sample; somatic mutation</li>									rs3740199	2
O43186	1406		<li>R->Q at 41: in RP, MIM: 268000</li><li>R->W at 41: in CORD2, MIM: 120970</li><li>E->A at 80: in CORD2: in dbSNP rsrs28939682, MIM: 120970</li><li>R->W at 90: in LCA1; reduced DNA-binding ability, MIM: 204000</li><li>G->D at 122: in RP, MIM: 268000</li><li>S->F at 141: in a breast cancer sample; somatic mutation, MIM: 268000</li><li>Missing  at 146-149: in LCA1, MIM: 268000</li><li>A->T at 158, MIM: 268000</li><li>V->M at 242: in CORD2, MIM: 120970</li>			DNA-binding	GO:0003677			<li>Q42883</li><li>O43186</li>	<li>Leber congenital amaurosis (LCA1) [MIM:204000, 602225]</li><li>Retinitis pigmentosa (RP) [MIM:268000]</li><li>Cone-rod dystrophy type 2 (CORD2) [MIM:120970]</li>	rs28939682	2
O43187	3656		<li>R->Q at 43: in dbSNP rsrs34945585</li><li>S->Y at 47: in dbSNP:rs11465864</li><li>I->V at 99: in dbSNP rsrs55898544</li><li>R->T at 147: in dbSNP rsrs56053222</li><li>R->G at 214: in dbSNP rsrs35060588</li><li>S->L at 249: in a lung adenocarcinoma sample; somatic mutation</li><li>L->V at 392: in dbSNP:rs3844283</li><li>P->T at 421: in a lung adenocarcinoma sample; somatic mutation</li><li>D->E at 431: in dbSNP:rs708035</li><li>L->V at 439: in dbSNP:rs11465927</li><li>D->N at 469: in dbSNP rsrs56242986</li><li>L->I at 503: in dbSNP:rs9854688</li><li>R->W at 566: in dbSNP rsrs55740652</li><li>D->H at 574: in dbSNP:rs11465930</li>									<li>rs11465927</li><li>rs35060588</li><li>rs56053222</li><li>rs708035</li><li>rs55898544</li><li>rs56242986</li><li>rs11465864</li><li>rs34945585</li><li>rs11465930</li><li>rs3844283</li><li>rs9854688</li><li>rs55740652</li>	2
O43189	5252		<li>T->S at 42: in dbSNP:rs6934613</li><li>K->R at 304: in dbSNP:rs3116713</li>									<li>rs3116713</li><li>rs6934613</li>	2
O43194	2863		<li>A->V at 50: in dbSNP:rs2241764</li><li>R->C at 390: in dbSNP:rs16838944</li>									<li>rs2241764</li><li>rs16838944</li>	2
O43196	4439		<li>P->S at 29: in dbSNP:rs2075789</li><li>L->F at 85: in dbSNP:rs28381349</li><li>Y->C at 202: in dbSNP:rs28381358</li><li>V->F at 206: in dbSNP:rs28381359</li><li>R->G at 351: in dbSNP:rs28399976</li><li>L->F at 377: in dbSNP:rs28399977</li><li>P->S at 786: in dbSNP:rs1802127</li>									<li>rs2075789</li><li>rs1802127</li><li>rs28381359</li><li>rs28399977</li><li>rs28399976</li><li>rs28381358</li><li>rs28381349</li>	2
O43236	5414		<li>E->V at 311: in dbSNP:rs17741424</li>									rs17741424	2
O43240	5655		<li>A->S at 50: in dbSNP:rs3745535</li><li>P->L at 149: in dbSNP:rs2075690</li>									<li>rs2075690</li><li>rs3745535</li>	2
O43246	6545		<li>T->I at 28: in dbSNP:rs2072550</li><li>A->T at 349: in dbSNP:rs2270384</li>									<li>rs2270384</li><li>rs2072550</li>	2
O43248	3227		<li>P->S at 130: in dbSNP rsrs34652380</li><li>A->V at 222: in dbSNP:rs12427129</li>									<li>rs34652380</li><li>rs12427129</li>	2
O43264	9183		<li>I->M at 77: in dbSNP:rs2271796</li>									rs2271796	2
O43272	5625		<li>A->V at 83: associated with susceptibility to SCZD4; moderate reduction of enzymatic activity</li><li>R->Q at 101: no effect on enzymatic activity</li><li>R->W at 101: moderate reduction of enzymatic activity; dbSNP:rs4819756</li><li>T->N at 191</li><li>L->M at 205: can be associated with hyperprolinemia type 1 in a subset of schizophrenia patients; no effect on enzymatic activity</li><li>P->L at 322: associated with susceptibility to SCZD4; strongly reduced enzymatic activity; dbSNP:rs3970555</li><li>D->N at 342: moderate reduction of enzymatic activity</li><li>V->M at 343: associated with susceptibility to SCZD4; moderate reduction of enzymatic activity; dbSNP:rs2238731</li><li>R->H at 347: associated with hyperprolinemia type 1 in a subset of schizophrenia patients; moderate reduction of enzymatic activity; dbSNP:rs2904552</li><li>L->P at 357: in hyperprolinemia type 1; associated with susceptibility to SCZD4; strongly reduced enzymatic activity; dbSNP:rs2904551, MIM: 239500</li><li>G->D at 360, MIM: 239500</li><li>R->C at 369: associated with susceptibility to SCZD4; can be associated with hyperprolinemia type 1 in a subset of schizophrenia patients; strongly reduced enzymatic activity; dbSNP:rs3970559, MIM: 239500</li><li>A->S at 371: can be associated with hyperprolinemia type 1 in a subset of schizophrenia patients; no effect on enzymatic activity; dbSNP:rs1807467, MIM: 239500</li><li>T->M at 382: associated with susceptibility to SCZD4; strongly reduced affinity for FAD and enzymatic activity; dbSNP:rs2870984, MIM: 239500</li><li>A->T at 388: associated with susceptibility to SCZD4; no effect on enzymatic activity; dbSNP:rs2870983, MIM: 239500</li><li>N->S at 404: in a breast cancer sample; somatic mutation, MIM: 239500</li><li>Q->E at 437: strongly reduced enzymatic activity, MIM: 239500</li><li>Q->R at 437: associated with susceptibility to SCZD4; can be associated with hyperprolinemia type 1 in a subset of schizophrenia patients; enhanced enzymatic activity; dbSNP:rs450046, MIM: 239500</li>								Hyperprolinemia type 1 [MIM:239500]		2
O43278	6692		<li>Y->C at 123: in dbSNP:rs11549915</li><li>T->R at 142: in dbSNP:rs12323939</li><li>P->L at 337: in dbSNP:rs7165897</li>									<li>rs12323939</li><li>rs11549915</li><li>rs7165897</li>	2
O43280	11181		<li>T->A at 389: in dbSNP:rs2276065</li><li>Y->H at 449: in dbSNP:rs11827611</li><li>R->W at 486: in dbSNP:rs2276064</li><li>A->P at 558: in dbSNP:rs6589671</li>									<li>rs2276064</li><li>rs2276065</li><li>rs11827611</li><li>rs6589671</li>	2
O43281	10278		<li>T->A at 7: in dbSNP:rs2231798</li><li>V->M at 100: in dbSNP:rs2231801</li><li>M->I at 361: in a colorectal cancer sample; somatic mutation</li>									<li>rs2231801</li><li>rs2231798</li>	2
O43286	9334		<li>G->S at 61: in dbSNP:rs2273086</li><li>D->N at 368: in dbSNP:rs235035</li><li>Y->D at 371: in dbSNP:rs35195217</li>									<li>rs35195217</li><li>rs235035</li><li>rs2273086</li>	2
O43290	9092		<li>R->C at 245: in dbSNP:rs688862</li><li>S->A at 463: in dbSNP:rs35036096</li><li>G->A at 485: in dbSNP:rs660118</li>									<li>rs35036096</li><li>rs660118</li><li>rs688862</li>	2
O43291	10653		<li>V->L at 200: in dbSNP rsrs11548457</li>									rs11548457	2
O43293	1613		<li>T->M at 112: in a colorectal adenocarcinoma sample; somatic mutation</li><li>D->N at 161: in an ovarian mucinous carcinoma sample; somatic mutation</li><li>P->S at 216: in a lung neuroendocrine carcinoma sample; somatic mutation</li>										2
O43295	9901		<li>L->I at 623: in a breast cancer sample; somatic mutation</li><li>I->V at 628: in dbSNP:rs2271207</li>									rs2271207	2
O43296	9422		<li>R->T at 181: in dbSNP:rs2074858</li><li>R->H at 183: in dbSNP:rs917340</li>									<li>rs2074858</li><li>rs917340</li>	2
O43299	9907		<li>S->C at 94: in dbSNP:rs11549839</li>									rs11549839	2
O43303	9738		<li>I->M at 252: in dbSNP:rs226891</li><li>M->I at 375: in dbSNP:rs7190666</li>									<li>rs226891</li><li>rs7190666</li>	2
O43306	112		<li>A->S at 674: in dbSNP:rs3730071</li>									rs3730071	2
O43307	23229		<li>G->A at 55: in STHEE; affects dendritic gephrin clustering and trafficking of GABA-A receptors to synapses, MIM: 300607</li>					synapses	GO:0045202		Startle disease with epilepsy (STHEE) [MIM:300607]		2
O43310	9811		<li>P->L at 82: in dbSNP:rs2277712</li><li>V->L at 389: in a breast cancer sample; somatic mutation</li><li>M->I at 438: in a breast cancer sample; somatic mutation</li>									rs2277712	2
O43312	9788		<li>N->I at 305: in dbSNP:rs2303956</li><li>T->A at 725: in dbSNP:rs3829037</li>									<li>rs3829037</li><li>rs2303956</li>	2
O43313	23300		<li>S->P at 240: in dbSNP:rs2278022</li><li>K->E at 305: in dbSNP:rs2278023</li>									<li>rs2278022</li><li>rs2278023</li>	2
O43314	23262		<li>A->G at 944: in dbSNP:rs17155115</li><li>E->K at 985: in dbSNP:rs12519525</li><li>R->K at 1003: in dbSNP:rs12520040</li><li>P->Q at 1206: in dbSNP:rs17155138</li><li>T->M at 1232: in dbSNP:rs17155147</li>									<li>rs12519525</li><li>rs17155115</li><li>rs17155147</li><li>rs17155138</li><li>rs12520040</li>	2
O43315	366		<li>A->T at 279: in dbSNP:rs1867380</li>									rs1867380	2
O43345	7757		<li>E->K at 282: in dbSNP:rs2007506</li><li>S->L at 298: in dbSNP:rs12462668</li><li>E->Q at 456: in dbSNP:rs7255075</li>									<li>rs2007506</li><li>rs7255075</li><li>rs12462668</li>	2
O43347	4440		<li>E->Q at 160: in a breast cancer sample; somatic mutation</li>										2
O43361			<li>Q->R at 156: in dbSNP:rs12986235</li><li>A->T at 318: in dbSNP:rs2240038</li><li>I->R at 684: in dbSNP:rs7246856</li>									<li>rs7246856</li><li>rs2240038</li><li>rs12986235</li>	2
O43364	3199		<li>Q->K at 186: in microtia hearing impairment and cleft palate</li><li>M->L at 196: in dbSNP:rs941002</li>	hearing	GO:0007605							rs941002	2
O43365	3200		<li>D->N at 42: in a breast cancer sample; somatic mutation</li><li>A->T at 131: in a breast cancer sample; somatic mutation</li>										2
O43374			<li>M->V at 352: in dbSNP:rs746316</li><li>R->P at 432: in dbSNP:rs886346</li><li>Y->C at 731: in dbSNP:rs1060228</li>									<li>rs886346</li><li>rs746316</li><li>rs1060228</li>	2
O43379	284403		<li>K->R at 289: in dbSNP:rs12327568</li><li>S->L at 850: in dbSNP:rs2285745</li><li>Q->L at 1305: in dbSNP:rs2074435</li><li>G->S at 1370: in dbSNP:rs17851503</li><li>F->L at 1385: in dbSNP:rs1008328</li>									<li>rs1008328</li><li>rs17851503</li><li>rs12327568</li><li>rs2074435</li><li>rs2285745</li>	2
O43395	9129		<li>K->N at 12: in dbSNP:rs12736964</li><li>P->S at 493: in RP18, MIM: 601414</li><li>T->M at 494: in RP18; reduces phosphorylation; impairs binding to PRPF4; impairs self-association; affects interaction with the U4/U5/U6 tri-snRNP complex; does not affect global pre-mRNA splicing, MIM: 601414</li>	phosphorylation	GO:0016310	binding	GO:0005488	snRNP	GO:0030532	<li>Q5NVD0</li><li>Q02326</li><li>P05739</li><li>O43172</li>	Retinitis pigmentosa type 18 (RP18) [MIM:601414]	rs12736964	2
O43405	1690		<li>P->S at 51: in DFNA9; Meniere disease; does not affect protein deposition to the extracellular matrix: in dbSNP rsrs28938175, MIM: 601369</li><li>V->G at 66: in DFNA9; affects protein deposition to the extracellular matrix, MIM: 601369</li><li>G->E at 88: in DFNA9; affects protein deposition to the extracellular matrix, MIM: 601369</li><li>I->N at 109: in DFNA9; affects protein deposition to the extracellular matrix, MIM: 601369</li><li>W->R at 117: in DFNA9; does not affect protein deposition to the extracellular matrix, MIM: 601369</li><li>A->T at 119: in DFNA9, MIM: 601369</li><li>G->R at 135: in dbSNP:rs28400035, MIM: 601369</li><li>D->N at 281: in dbSNP:rs28362775, MIM: 601369</li><li>T->S at 352: in dbSNP:rs1045644, MIM: 601369</li><li>I->V at 402: in dbSNP:rs28362778, MIM: 601369</li><li>E->G at 518: in dbSNP:rs17097468, MIM: 601369</li><li>P->S at 532: in dbSNP:rs1801963, MIM: 601369</li>					extracellular matrix	GO:0005578,GO:0048196		Non-syndromic sensorineural deafness autosomal dominant type 9 (DFNA9) [MIM:601369]	<li>rs1801963</li><li>rs28362775</li><li>rs1045644</li><li>rs28400035</li><li>rs28362778</li><li>rs28938175</li><li>rs17097468</li>	2
O43423	23520		<li>A->V at 23: in dbSNP rsrs2288674</li><li>R->K at 71: in dbSNP:rs2288675</li><li>L->P at 105: in dbSNP:rs17008716</li><li>Y->H at 140</li><li>E->G at 204: in dbSNP:rs2288676</li>									<li>rs17008716</li><li>rs2288674</li><li>rs2288675</li><li>rs2288676</li>	2
O43424	2895		<li>T->M at 68: in dbSNP:rs34144324</li><li>T->N at 209: in a colorectal cancer sample; somatic mutation</li><li>F->S at 398: in dbSNP:rs34796082</li><li>V->I at 490: in dbSNP:rs10034345</li>									<li>rs10034345</li><li>rs34796082</li><li>rs34144324</li>	2
O43426	8867		<li>K->R at 295: in dbSNP:rs2254562</li><li>V->A at 1366: in dbSNP:rs9980589</li><li>L->P at 1545: in dbSNP:rs2230767</li><li>P->L at 1547: in dbSNP:rs2230767</li>									<li>rs9980589</li><li>rs2230767</li><li>rs2254562</li>	2
O43427	9158		<li>R->W at 152: in dbSNP:rs11559154</li><li>M->V at 351: in dbSNP:rs2231893</li>									<li>rs2231893</li><li>rs11559154</li>	2
O43435	6899		<li>F->Y at 148: in CTHM and VCFS: in dbSNP rsrs28939675, MIM: 192430</li><li>H->Q at 194: in VCFS, MIM: 192430</li><li>G->S at 310: in DGS; dbSNP:rs41298838, MIM: 188400</li><li>G->E at 337: in a colorectal cancer sample; somatic mutation, MIM: 188400</li><li>T->M at 350: in dbSNP:rs4819522, MIM: 188400</li>								<li>Velocardiofacial syndrome (VCFS) [MIM:192430]</li><li>Conotruncal heart malformations (CTHM) [MIM:217095]</li><li>DiGeorge syndrome (DGS) [MIM:188400]</li>	<li>rs41298838</li><li>rs4819522</li><li>rs28939675</li>	2
O43451	8972		<li>Q->H at 404: in dbSNP:rs2272330</li><li>S->L at 542: in dbSNP:rs10266732</li><li>N->D at 858: in dbSNP:rs2960746</li><li>L->I at 1638: in dbSNP:rs9655651</li>									<li>rs10266732</li><li>rs9655651</li><li>rs2272330</li><li>rs2960746</li>	2
O43488	8574		<li>V->M at 135: in dbSNP:rs6670759</li><li>A->T at 142: in dbSNP:rs1043657</li><li>Q->H at 157: in dbSNP:rs859208</li><li>G->S at 198: in dbSNP:rs2231200</li><li>C->Y at 214: in dbSNP:rs2235794</li><li>S->N at 255: in dbSNP:rs2231203</li>									<li>rs2235794</li><li>rs2231200</li><li>rs2231203</li><li>rs1043657</li><li>rs6670759</li><li>rs859208</li>	2
O43490	8842		<li>A->G at 31</li><li>A->S at 31</li>										2
O43491	2037		<li>Q->H at 17: in dbSNP:rs2297852</li>									rs2297852	2
O43502	5889		<li>I->T at 144: in dbSNP rsrs28363307</li><li>R->C at 249: in dbSNP rsrs28363311</li><li>T->A at 287: in dbSNP:rs28363317</li>									<li>rs28363311</li><li>rs28363317</li><li>rs28363307</li>	2
O43505	11041		<li>T->S at 253: in dbSNP rsrs35429253</li>									rs35429253	2
O43506	8748		<li>F->L at 19: in dbSNP:rs1059166</li>									rs1059166	2
O43511	5172		<li>R->G at 24: in Pendred syndrome/deafness individuals</li><li>S->R at 28: in PDS and DFNB4, MIM: 274600</li><li>E->Q at 29: in PDS, MIM: 274600</li><li>Y->C at 78: in PDS, MIM: 274600</li><li>S->L at 90: in DFNB4, MIM: 600791</li><li>G->R at 102: in PDS; fails to localize to cell membrane; abolishes iodide transport, MIM: 274600</li><li>A->V at 104: in Pendred syndrome/deafness individuals, MIM: 274600</li><li>Y->C at 105: in PDS, MIM: 274600</li><li>A->D at 106: in PDS, MIM: 274600</li><li>L->F at 117: in DFNB4 and PDS; does not affect protein localization to cell membrane; does not affect iodide transport, MIM: 274600</li><li>P->S at 123: in DFNB4, MIM: 600791</li><li>T->I at 132: in DFNB4, MIM: 600791</li><li>S->T at 133: in PDS, MIM: 274600</li><li>S->P at 137: in PDS, MIM: 274600</li><li>V->F at 138: in PDS; fails to localize to cell membrane; abolishes iodide transport, MIM: 274600</li><li>G->A at 139: in PDS, MIM: 274600</li><li>M->V at 147: in DFNB4, MIM: 600791</li><li>T->I at 193: in PDS, MIM: 274600</li><li>G->V at 209: in DFNB4 and PDS; severely reduces iodide transport without affecting protein localization to cell membrane, MIM: 274600</li><li>L->P at 236: in PDS and DFNB4; common mutation; fails to localize to cell membrane; abolishes iodide transport, MIM: 274600</li><li>V->D at 239: in PDS and DFNB4, MIM: 274600</li><li>S->P at 252: in DFNB4, MIM: 600791</li><li>D->H at 271: in PDS, MIM: 274600</li><li>P->L at 301: in dbSNP:rs34373141, MIM: 274600</li><li>N->Y at 324: in dbSNP:rs36039758, MIM: 274600</li><li>F->L at 335: in PDS, MIM: 274600</li><li>K->E at 369: in DFNB4, MIM: 600791</li><li>A->V at 372: in DFNB4, MIM: 600791</li><li>E->G at 384: in PDS and PDS/DFNB4, MIM: 274600</li><li>S->N at 391: in PDS, MIM: 274600</li><li>N->Y at 392: in DFNB4, MIM: 600791</li><li>R->H at 409: in PDS, MIM: 274600</li><li>R->P at 409: in DFNB4, MIM: 600791</li><li>T->M at 410: in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport, MIM: 274600</li><li>A->P at 411: in PDS, MIM: 274600</li><li>T->P at 416: in PDS and DFNB4; common mutation: in dbSNP rsrs28939086, MIM: 274600</li><li>Q->R at 421: in Pendred syndrome/deafness individuals, MIM: 274600</li><li>Missing  at 429: in Pendred syndrome/deafness individuals, MIM: 274600</li><li>L->W at 445: in PDS and DFNB4, MIM: 274600</li><li>Q->R at 446: in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport, MIM: 274600</li><li>I->F at 455: in DFNB4, MIM: 600791</li><li>N->K at 457: in DFNB4, MIM: 600791</li><li>V->D at 480: in PDS; retains residual transport function, MIM: 274600</li><li>I->L at 490: in DFNB4, MIM: 600791</li><li>G->S at 497: in DFNB4, MIM: 600791</li><li>T->N at 508: in PDS, MIM: 274600</li><li>Q->R at 514: in PDS, MIM: 274600</li><li>Y->H at 530: in PDS, MIM: 274600</li><li>Y->S at 530: in PDS, MIM: 274600</li><li>S->I at 552: in PDS, MIM: 274600</li><li>Y->C at 556: in PDS; partially affects protein localization to cell membrane; abolishes iodide transport, MIM: 274600</li><li>Y->H at 556: in PDS, MIM: 274600</li><li>C->Y at 565: in PDS, MIM: 274600</li><li>L->S at 597: in PDS; common mutation: in dbSNP rsrs55638457, MIM: 274600</li><li>V->G at 609: in PDS; could be a polymorphism; dbSNP:rs17154335, MIM: 274600</li><li>V->A at 653: in PDS; retains residual transport function, MIM: 274600</li><li>S->F at 666: in DFNB4, MIM: 600791</li><li>F->C at 667: in PDS, MIM: 274600</li><li>G->E at 672: in PDS; partially affects protein localization to cell membrane; abolishes iodide transport, MIM: 274600</li><li>L->Q at 676: in DFNB4, MIM: 600791</li><li>F->S at 683: in Pendred syndrome/deafness individuals, MIM: 600791</li><li>D->Y at 687: in dbSNP:rs35548413, MIM: 600791</li><li>S->P at 694: in PDS, MIM: 274600</li><li>T->M at 721: in DFNB4 and PDS, MIM: 274600</li><li>H->R at 723: in DFNB4 and PDS; common mutation in Korea and Japan, MIM: 274600</li><li>D->N at 724: in PDS, MIM: 274600</li><li>G->S at 740: in dbSNP:rs17154353, MIM: 274600</li><li>R->C at 776: in PDS; retains its ability to transport iodide in vitro, MIM: 274600</li>	<li>protein localization</li><li>transport</li><li>iodide transport</li>	<li>GO:0008104</li><li>GO:0006810</li><li>GO:0015705</li>			cell membrane	GO:0005886	<li>Q07356</li><li>O43511</li><li>P80093</li><li>P41222</li><li>P28554</li><li>P49086</li><li>Q40406</li><li>Q9ZTN9</li>	<li>Pendred syndrome (PDS) [MIM:274600]</li><li>Non-syndromic sensorineural deafness autosomal recessive type 4 (DFNB4) [MIM:600791]</li>	<li>rs28939086</li><li>rs34373141</li><li>rs17154353</li><li>rs17154335</li><li>rs55638457</li><li>rs35548413</li><li>rs36039758</li>	2
O43516	7456		<li>L->P at 198: in dbSNP:rs4972450</li><li>A->G at 495</li>									rs4972450	2
O43520	5205		<li>N->T at 45: in ICP, MIM: 147480</li><li>D->N at 70: in BRIC1; compound heterozygote with Q-600; uncertain pathological significance; may be associated with ICP; dbSNP:rs34719006, MIM: 243300</li><li>H->Q at 78: in dbSNP:rs3745079, MIM: 243300</li><li>L->P at 127: in PFIC1, MIM: 211600</li><li>K->E at 203: in ICP: in dbSNP rsrs56355310, MIM: 147480</li><li>L->S at 288: in PFIC1, MIM: 211600</li><li>F->I at 305, MIM: 211600</li><li>G->D at 308: in BRIC1; dbSNP:rs28939685, MIM: 243300</li><li>G->V at 308: in PFIC1: in dbSNP rsrs28939685, MIM: 211600</li><li>I->F at 344: in BRIC1, MIM: 243300</li><li>R->H at 384: in dbSNP:rs2271260, MIM: 243300</li><li>I->V at 393: in dbSNP:rs34315917, MIM: 243300</li><li>S->Y at 403: in PFIC1, MIM: 211600</li><li>R->P at 412: in PFIC1, MIM: 211600</li><li>E->A at 429: in dbSNP:rs34018205, MIM: 211600</li><li>S->Y at 453: in BRIC1, MIM: 243300</li><li>D->G at 454: in BRIC1, MIM: 243300</li><li>T->M at 456: in PFIC1, MIM: 211600</li><li>Y->H at 500: in PFIC1, MIM: 211600</li><li>Missing  at 529: in PFIC1, MIM: 211600</li><li>H->L at 535: in PFIC1, MIM: 211600</li><li>D->N at 554: in PFIC1, MIM: 211600</li><li>I->V at 577: in dbSNP:rs3745078, MIM: 211600</li><li>S->N at 580: in dbSNP:rs33963153, MIM: 211600</li><li>R->Q at 600: in BRIC1; compound heterozygote with N-70, MIM: 243300</li><li>R->W at 600: in BRIC1, MIM: 243300</li><li>R->W at 628: in BRIC1, MIM: 243300</li><li>Missing  at 645-699: in PFIC1, MIM: 243300</li><li>I->T at 661: in BRIC1 and PFIC1; common mutation: in dbSNP rsrs28939686, MIM: 211600</li><li>M->T at 674: in dbSNP:rs35470719, MIM: 211600</li><li>D->G at 688: in PFIC1, MIM: 211600</li><li>I->T at 694: in BRIC1, MIM: 243300</li><li>G->R at 733: in PFIC1, MIM: 211600</li><li>Missing  at 795-797: in BRIC1, MIM: 211600</li><li>K->N at 814: in dbSNP:rs34018300, MIM: 211600</li><li>F->S at 853: in PFIC1, MIM: 211600</li><li>R->C at 867: in ICP, MIM: 147480</li><li>A->V at 886: in a breast cancer sample; somatic mutation, MIM: 147480</li><li>G->R at 892: in PFIC1 and BRIC1, MIM: 211600</li><li>R->Q at 952: in dbSNP:rs12968116, MIM: 211600</li><li>G->R at 1040: in PFIC1, MIM: 211600</li><li>A->T at 1152: in dbSNP:rs222581, MIM: 211600</li><li>I->M at 1178: in a breast cancer sample; somatic mutation, MIM: 211600</li>							P17237	<li>Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]</li><li>Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]</li><li>Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]</li>	<li>rs2271260</li><li>rs35470719</li><li>rs33963153</li><li>rs12968116</li><li>rs3745079</li><li>rs28939685</li><li>rs28939686</li><li>rs34018300</li><li>rs34315917</li><li>rs3745078</li><li>rs222581</li><li>rs34719006</li><li>rs56355310</li><li>rs34018205</li>	2
O43542	7517		<li>R->H at 94: in dbSNP:rs3212057</li><li>T->M at 241: associated with cutaneous malignant melanoma; dbSNP:rs861539</li><li>G->R at 271: in dbSNP:rs28903080</li><li>R->H at 302: in dbSNP:rs28903081</li>									<li>rs28903080</li><li>rs3212057</li><li>rs28903081</li><li>rs861539</li>	2
O43543	7516		<li>A->S at 16: in dbSNP:rs4987090</li><li>R->H at 188: in dbSNP:rs3218536</li><li>I->T at 221: in dbSNP:rs3218537</li>									<li>rs4987090</li><li>rs3218536</li><li>rs3218537</li>	2
O43548	9333		<li>P->S at 67</li><li>T->M at 109</li><li>G->C at 113: in APSS; completely abolishes the enzyme activity, MIM: 609796</li><li>A->G at 352: in dbSNP:rs28756768, MIM: 609796</li><li>V->M at 504: in dbSNP:rs7171797, MIM: 609796</li><li>Q->R at 521: in dbSNP:rs35985214, MIM: 609796</li>								Peeling skin syndrome acral type (APSS) [MIM:609796, 270300]	<li>rs28756768</li><li>rs35985214</li><li>rs7171797</li>	2
O43555	2797		<li>A->V at 16: in dbSNP:rs6051545</li>									rs6051545	2
O43556	8910		<li>L->R at 172: in DYT11, MIM: 159900</li>								Myoclonus dystonia (MD) [MIM:159900]		2
O43557	8740		<li>S->L at 32: in dbSNP:rs2291667</li><li>L->V at 120: in dbSNP:rs17851606</li><li>E->K at 214: in dbSNP:rs344560</li>									<li>rs344560</li><li>rs17851606</li><li>rs2291667</li>	2
O43559	10817		<li>P->L at 221: in dbSNP:rs3747747</li>									rs3747747	2
O43572	11216		<li>R->H at 249: in dbSNP:rs2108978</li><li>I->V at 646: in dbSNP:rs203462</li>									<li>rs203462</li><li>rs2108978</li>	2
O43581	9066		<li>I->N at 332: in dbSNP:rs407740</li>									rs407740	2
O43593	55806		<li>G->D at 337: in dbSNP:rs12675375</li><li>R->Q at 620</li><li>R->Q at 633: in a colorectal cancer sample; somatic mutation</li><li>P->L at 924: in dbSNP:rs11990421</li><li>D->N at 1012: in ALUNC; affects binding to thyroid hormone receptor, MIM: 203655</li><li>T->A at 1022: in ALUNC; dbSNP:rs7014851, MIM: 203655</li><li>V->D at 1136: in ALUNC, MIM: 203655</li>			binding	GO:0005488				Alopecia universalis congenita (ALUNC) [MIM:203655]	<li>rs11990421</li><li>rs7014851</li><li>rs12675375</li>	2
O43597	10253		<li>P->S at 106: in dbSNP:rs504122</li>									rs504122	2
O43602	1641		<li>T->I at 123: in LISX1, MIM: 300067</li><li>L->S at 124: in LISX1, MIM: 300067</li><li>S->R at 128: in LISX1 and SBHX, MIM: 300067</li><li>K->N at 131: in SBHX, MIM: 300067</li><li>R->H at 140: in SBHX, MIM: 300067</li><li>R->L at 140: in LISX1 and SBHX, MIM: 300067</li><li>N->D at 141: in LISX1, MIM: 300067</li><li>D->N at 143: in LISX1 and SBHX, MIM: 300067</li><li>G->E at 148: in SBHX, MIM: 300067</li><li>A->S at 152: in LISX1, MIM: 300067</li><li>R->H at 159: in SBH, MIM: 300067</li><li>R->L at 159: in SBHX, MIM: 300067</li><li>D->H at 167: in SBHX, MIM: 300067</li><li>R->G at 170: in SBHX; mild, MIM: 300067</li><li>L->R at 178: in SBHX, MIM: 300067</li><li>G->A at 181: in LISX1 and SBHX, MIM: 300067</li><li>R->S at 183: in LISX1, MIM: 300067</li><li>I->T at 185: in SBHX, MIM: 300067</li><li>Y->D at 206: in SBHX, MIM: 300067</li><li>Y->H at 206: in LISX1 and SBHX, MIM: 300067</li><li>R->C at 259: in SBHX, MIM: 300067</li><li>R->L at 259: in SBHX, MIM: 300067</li><li>R->C at 267: in SBHX, MIM: 300067</li><li>P->L at 272: in SBHX, MIM: 300067</li><li>P->R at 272: in SBHX, MIM: 300067</li><li>R->W at 273: in LISX1 and SBHX, MIM: 300067</li><li>R->H at 277: in LISX1: in dbSNP rsrs56030372, MIM: 300067</li><li>R->S at 277: in epilepsy; resistant partial seizures; related to 'cryptogenic' epilepsy, MIM: 300067</li><li>N->I at 281: in SBHX, MIM: 300067</li><li>N->K at 281: in SBHX, MIM: 300067</li><li>T->A at 284: in SBHX, MIM: 300067</li><li>T->R at 284: in LISX1 and SBHX, MIM: 300067</li><li>I->T at 295: in SBHX, MIM: 300067</li><li>T->I at 303: in SBHX, MIM: 300067</li><li>G->E at 304: in SBHX, MIM: 300067</li><li>G->V at 304: in SBHX, MIM: 300067</li><li>V->I at 317: in SBHX, MIM: 300067</li><li>F->L at 324: in LISX1, MIM: 300067</li><li>I->N at 331: in SBHX, MIM: 300067</li><li>I->T at 331: in SBHX, MIM: 300067</li><li>A->S at 332: in SBHX, MIM: 300067</li><li>A->V at 332: in SBHX, MIM: 300067</li><li>G->D at 334: in SBHX, MIM: 300067</li>								<li>Subcortical band heterotopia X-linked (SBHX) [MIM:300067]</li><li>Lissencephaly X-linked type 1 (LISX1) [MIM:300067]</li>	rs56030372	2
O43610	10251		<li>A->T at 161: in dbSNP:rs35474915</li>									rs35474915	2
O43612	3060		<li>L->R at 16: in narcolepsy; early-onset; impaired trafficking and processing, MIM: 161400</li>								Narcolepsy [MIM:161400]		2
O43613	3061		<li>G->S at 167</li><li>R->Q at 279: in dbSNP:rs7516785</li><li>R->H at 281: in dbSNP:rs41439244</li><li>I->V at 408: in dbSNP:rs2271933</li>									<li>rs7516785</li><li>rs41439244</li><li>rs2271933</li>	2
O43614	3062		<li>P->S at 10: in dbSNP:rs41271310</li><li>P->T at 11: in dbSNP:rs41271312</li><li>I->V at 293</li><li>I->V at 308: in dbSNP rsrs2653349</li>									<li>rs41271310</li><li>rs41271312</li><li>rs2653349</li>	2
O43623	6591		<li>D->E at 119: in NTD</li>										2
O43638	2307		<li>P->A at 292: in dbSNP:rs2296917</li>									rs2296917	2
O43653	8000		<li>E->K at 39: in dbSNP:rs3736001</li>									rs3736001	2
O43657	7105		<li>A->T at 108: in dbSNP:rs1802288</li>									rs1802288	2
O43665	6001		<li>A->V at 94: in dbSNP:rs1802228</li>									rs1802228	2
O43670	7756		<li>A->S at 224: in dbSNP:rs3795244</li>									rs3795244	2
O43674	4711		<li>Y->H at 133: in dbSNP:rs4147793</li>									rs4147793	2
O43678	4695		<li>D->N at 50: in a breast cancer sample; somatic mutation</li>										2
O43681	439		<li>N->S at 332: in dbSNP:rs8177499</li>									rs8177499	2
O43683	699		<li>G->D at 20: in dbSNP rsrs35890336</li><li>E->D at 36: in colorectal cancer; dbSNP:rs1801328</li><li>Y->C at 259: in pancreatic cancer; associated with N-265</li><li>H->N at 265: in pancreatic cancer; associated with C-259</li><li>S->Y at 492: in colorectal cancer</li><li>N->D at 534: in dbSNP:rs36109304</li><li>P->R at 648: in colorectal cancer</li>									<li>rs1801328</li><li>rs36109304</li><li>rs35890336</li>	2
O43699	946		<li>L->V at 57: in dbSNP:rs2305773</li><li>L->F at 262: in dbSNP:rs2005199</li>									<li>rs2005199</li><li>rs2305773</li>	2
O43707	81		<li>K->E at 255: in FSGS1: in dbSNP rsrs28939374, MIM: 603278</li><li>T->I at 259: in FSGS1: in dbSNP rsrs28939375, MIM: 603278</li><li>S->P at 262: in FSGS1: in dbSNP rsrs28939376, MIM: 603278</li>								Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]	<li>rs28939374</li><li>rs28939375</li><li>rs28939376</li>	2
O43708	2954		<li>K->E at 32: in allele GSTZ1*C: in dbSNP rsrs7975</li><li>R->G at 42: in allele GSTZ1*B and allele GSTZ1*C: in dbSNP rsrs7972</li><li>T->M at 82: in dbSNP rsrs1046428</li><li>N->H at 133: in dbSNP:rs2234955</li>							<li>Q9ZVQ3</li><li>O43708</li><li>O04437</li>		<li>rs7972</li><li>rs1046428</li><li>rs2234955</li><li>rs7975</li>	2
O43716	283459		<li>S->L at 3: in dbSNP:rs17431446</li>									rs17431446	2
O43731	11015		<li>V->G at 199: in dbSNP:rs12004</li>									rs12004	2
O43734	10758		<li>D->N at 19: in dbSNP:rs33980500</li><li>R->W at 83: in dbSNP:rs13190932</li><li>Q->H at 332: in dbSNP:rs1043730</li>									<li>rs1043730</li><li>rs13190932</li><li>rs33980500</li>	2
O43736	9452		<li>A->V at 72: in dbSNP:rs35056863</li><li>R->T at 230: in dbSNP:rs35629312</li>									<li>rs35629312</li><li>rs35056863</li>	2
O43745	63928		<li>R->P at 127: in dbSNP:rs35641939</li>									rs35641939	2
O43747	164		<li>V->G at 195: in dbSNP:rs36037071</li><li>P->H at 685: in dbSNP:rs904763</li>									<li>rs904763</li><li>rs36037071</li>	2
O43749	4992		<li>F->S at 75: in dbSNP:rs1834026</li><li>V->M at 126: in dbSNP:rs8045183</li>									<li>rs1834026</li><li>rs8045183</li>	2
O43772	788		<li>R->W at 133: in CACT deficiency, MIM: 212138</li><li>D->H at 231: in CACT deficiency, MIM: 212138</li><li>Q->R at 238: in CACT deficiency: in dbSNP rsrs28934589, MIM: 212138</li>							<li>Q8HXY2</li><li>O43772</li>	Carnitine-acylcarnitine translocase deficiency (CACT deficiency) [MIM:212138]	rs28934589	2
O43781	8444		<li>M->L at 239</li>										2
O43790	3892		<li>N->D at 114: in Monilethrix, MIM: 158000</li><li>N->H at 114: in Monilethrix, MIM: 158000</li><li>E->K at 402: in Monilethrix, MIM: 158000</li><li>E->Q at 402: in Monilethrix: in dbSNP rsrs28939669, MIM: 158000</li><li>E->D at 413: in Monilethrix, MIM: 158000</li><li>E->K at 413: in Monilethrix, MIM: 158000</li>								Monilethrix [MIM:158000]	rs28939669	2
O43795	4430		<li>V->G at 385: in a colorectal cancer sample; somatic mutation</li><li>V->I at 385: in a colorectal cancer sample; somatic mutation</li><li>E->K at 969: in a melanoma patient</li>										2
O43805	8636		<li>K->N at 17: in a breast cancer sample; somatic mutation</li>										2
O43818	9136		<li>R->G at 8: in a breast cancer sample; somatic mutation</li><li>A->E at 342: in a breast cancer sample; somatic mutation</li>										2
O43819	9997		<li>R->P at 20: in dbSNP:rs140523</li><li>E->K at 140: in FIC, MIM: 604377</li><li>R->W at 171: in FIC: in dbSNP rsrs28937598, MIM: 604377</li><li>S->F at 225: in FIC, MIM: 604377</li><li>A->V at 259: in dbSNP:rs8139305, MIM: 604377</li>								Fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) [MIM:604377, 220110]	<li>rs8139305</li><li>rs28937598</li><li>rs140523</li>	2
O43820	8372		<li>H->Y at 113: in dbSNP:rs13100173</li>									rs13100173	2
O43822	755		<li>T->I at 150: in dbSNP:rs2277809</li><li>G->S at 153: in dbSNP:rs9306099</li>									<li>rs9306099</li><li>rs2277809</li>	2
O43823	10270		<li>Q->H at 664: in a breast cancer sample; somatic mutation</li>										2
O43826	2542		<li>G->D at 20: in GSD1B, MIM: 232220</li><li>Y->H at 24: in GSD1B, MIM: 232220</li><li>N->K at 27: in GSD1B, MIM: 232220</li><li>R->C at 28: in GSD1B, MIM: 232220</li><li>R->H at 28: in GSD1B; inactive glucose-6-phosphate transport, MIM: 232220</li><li>G->R at 50: in GSD1B, MIM: 232220</li><li>S->R at 54: in GSD1B, MIM: 232220</li><li>S->R at 55: in GSD1B, MIM: 232220</li><li>G->R at 68: in GSD1B, MIM: 232220</li><li>L->P at 85: in GSD1B, MIM: 232220</li><li>G->D at 88: in GSD1B, MIM: 232220</li><li>W->R at 118: in GSD1B, MIM: 232220</li><li>Q->P at 133: in GSD1C, MIM: 232240</li><li>G->E at 149: in GSD1B, MIM: 232220</li><li>G->R at 150: in GSD1B, MIM: 232220</li><li>P->L at 153: in GSD1B, MIM: 232220</li><li>C->R at 176: in GSD1B, MIM: 232220</li><li>C->R at 183: in GSD1B, MIM: 232220</li><li>P->L at 191: in GSD1B, MIM: 232220</li><li>N->I at 198: in GSD1B; could be a polymorphism, MIM: 232220</li><li>L->P at 229: in GSD1B, MIM: 232220</li><li>Missing  at 235: in GSD1B, MIM: 232220</li><li>I->N at 278: in GSD1B, MIM: 232220</li><li>R->H at 300: in GSD1B, MIM: 232220</li><li>H->P at 301: in GSD1B, MIM: 232220</li><li>G->C at 339: in GSD1B, MIM: 232220</li><li>G->D at 339: in GSD1B, MIM: 232220</li><li>A->T at 367: in GSD1B, MIM: 232220</li><li>A->D at 373: in GSD1B, MIM: 232220</li><li>G->S at 376: in GSD1C, MIM: 232240</li>	glucose-6-phosphate transport	GO:0015760						<li>Glycogen storage disease type 1C (GSD1C) [MIM:232240]</li><li>Glycogen storage disease type 1B (GSD1B) [MIM:232220]</li>		2
O43827	10218		<li>E->D at 51: in dbSNP:rs28990992</li><li>R->H at 140: in dbSNP rsrs28991002</li><li>Q->H at 175: in dbSNP rsrs28991009</li>									<li>rs28990992</li><li>rs28991009</li><li>rs28991002</li>	2
O43829	7541		<li>E->G at 77: in dbSNP:rs7235740</li><li>Q->R at 139: in dbSNP:rs7235420</li>									<li>rs7235420</li><li>rs7235740</li>	2
O43837	3420		<li>A->V at 3: in dbSNP:rs3178817</li><li>L->P at 132: in RP46, MIM: 612572</li><li>Q->H at 166: in dbSNP:rs11542741, MIM: 612572</li>								Retinitis pigmentosa type 46 (RP46) [MIM:612572]	<li>rs3178817</li><li>rs11542741</li>	2
O43847	4898		<li>E->EE at 153</li>										2
O43852	813		<li>R->Q at 4: in dbSNP:rs2290228</li>									rs2290228	2
O43861	374868		<li>S->G at 39: in dbSNP:rs4078115</li><li>D->N at 504: in dbSNP:rs36034863</li><li>M->L at 732: in dbSNP:rs585033</li>									<li>rs36034863</li><li>rs4078115</li><li>rs585033</li>	2
O43866	922		<li>D->E at 117: in dbSNP:rs11537583</li>									rs11537583	2
O43868	9153		<li>L->P at 12</li><li>P->L at 22: in dbSNP:rs11854484</li><li>S->R at 75: in dbSNP:rs1060896</li><li>R->H at 142</li><li>L->W at 163: in dbSNP:rs2271437</li><li>E->D at 172</li><li>S->T at 245: in dbSNP:rs10519020</li><li>F->S at 355: in dbSNP:rs17215633</li><li>E->K at 385</li><li>L->F at 462: in dbSNP rsrs17222057</li><li>G->E at 509: in dbSNP:rs9635306</li><li>M->T at 612</li>									<li>rs1060896</li><li>rs9635306</li><li>rs11854484</li><li>rs17222057</li><li>rs17215633</li><li>rs10519020</li><li>rs2271437</li>	2
O43897	7092		<li>L->V at 688: in a breast cancer sample; somatic mutation</li><li>T->A at 958: in dbSNP:rs2291822</li>									rs2291822	2
O43900	4007		<li>R->C at 343: in dbSNP:rs7065449</li><li>E->D at 558: in a breast cancer sample; somatic mutation</li>									rs7065449	2
O43908	8302		<li>S->I at 29: in allele NKG2-F*02; dbSNP:rs1841958</li><li>S->N at 104: in allele NKG2-F*02; dbSNP:rs2617170</li>									<li>rs2617170</li><li>rs1841958</li>	2
O43909	2137		<li>L->P at 706: in dbSNP:rs2269452</li>									rs2269452	2
O43913	5001		<li>G->R at 37: in dbSNP:rs1056677</li><li>K->N at 52: in dbSNP:rs2307413</li><li>R->C at 166: in dbSNP:rs2307402</li>									<li>rs1056677</li><li>rs2307413</li><li>rs2307402</li>	2
O43914	7305		<li>Y->H at 111: in dbSNP:rs14714</li>									rs14714	2
O43929	5000		<li>L->V at 56: in dbSNP:rs2307397</li><li>N->S at 78: in dbSNP:rs2307394</li>									<li>rs2307397</li><li>rs2307394</li>	2
O43933	5189		<li>Missing  at 634-690: in NALD</li><li>I->R at 640: in dbSNP:rs4559173</li><li>L->P at 664: in NALD: in dbSNP rsrs28939678, MIM: 202370</li><li>I->M at 696: in dbSNP:rs35996821, MIM: 202370</li><li>G->D at 843: in IRD and NALD, MIM: 266510</li>								<li>Infantile Refsum disease (IRD) [MIM:266510]</li><li>Adrenoleukodystrophy neonatal (NALD) [MIM:202370]</li>	<li>rs35996821</li><li>rs4559173</li><li>rs28939678</li>	2
O43934	79157		<li>S->F at 428: in dbSNP:rs3198672</li>									rs3198672	2
O60218	57016	<ul><li>K->L at 125: Increased affinity and reduced catalytic activity towards all-trans-retinaldehyde</li><li>V->L at 301: Reduced catalytic activity towards all-trans-retinaldehyde</li></ul>	<li>P->S at 87: in dbSNP:rs2303312</li><li>M->T at 286: in dbSNP:rs3735042</li><li>D->N at 313: in dbSNP:rs4728329</li>			catalytic activity	GO:0003824					<li>rs4728329</li><li>rs2303312</li><li>rs3735042</li>	3
O60220	1678		<li>C->W at 66: in MTS; disrupts the assembly of the heterohexamer with TIMM13, MIM: 304700</li>							<li>Q9JMH3</li><li>Q9Y5L4</li>	Mohr-Tranebjaerg syndrome (MTS) [MIM:304700]		2
O60225	6758		<li>E->Q at 19: in dbSNP:rs4824675</li>									rs4824675	2
O60232	10534		<li>T->M at 21: in dbSNP:rs35971725</li>									rs35971725	2
O60234	9535		<li>E->K at 122: in dbSNP:rs36110047</li><li>E->K at 136: in dbSNP:rs34035414</li>									<li>rs34035414</li><li>rs36110047</li>	2
O60237	4660		<li>V->I at 182: in dbSNP:rs2843414</li><li>R->K at 836: in dbSNP:rs3881953</li>									<li>rs3881953</li><li>rs2843414</li>	2
O60242	577		<li>S->N at 503: in dbSNP:rs1932618</li>									rs1932618	2
O60244	9282		<li>F->L at 1325: in a breast cancer sample; somatic mutation</li>										2
O60259	11202		<li>V->I at 154: in dbSNP:rs16988799</li>									rs16988799	2
O60266	109		<li>S->P at 107: in dbSNP:rs11676272</li>									rs11676272	2
O60268	9764		<li>R->H at 100: in dbSNP:rs4783121</li>									rs4783121	2
O60269	9721		<li>L->V at 39: in dbSNP:rs4926045</li><li>S->G at 104: in dbSNP:rs3127679</li>									<li>rs3127679</li><li>rs4926045</li>	2
O60279	26032		<li>F->L at 40: in dbSNP:rs9637517</li><li>L->F at 52: in dbSNP:rs9637517</li><li>R->K at 216: in dbSNP:rs9872477</li><li>R->K at 228: in dbSNP:rs9872477</li><li>E->D at 378: in dbSNP:rs6810039</li><li>E->D at 390: in dbSNP:rs6810039</li>									<li>rs9872477</li><li>rs6810039</li><li>rs9637517</li>	2
O60284	9705		<li>R->C at 515: in dbSNP:rs2303460</li>									rs2303460	2
O60290	643641		<li>I->T at 178: in dbSNP:rs3735328</li>									rs3735328	2
O60292	23094		<li>G->S at 1371: in dbSNP:rs2304133</li><li>P->A at 1450: in dbSNP:rs3745945</li>									<li>rs2304133</li><li>rs3745945</li>	2
O60293	196441		<li>E->K at 1006: in dbSNP:rs1011332</li><li>K->R at 1807: in dbSNP:rs11541286</li>									<li>rs1011332</li><li>rs11541286</li>	2
O60294	9836		<li>V->L at 67: in dbSNP:rs45552436</li><li>R->S at 141: in dbSNP:rs3742970</li><li>C->Y at 149: in dbSNP rsrs45593931</li><li>T->A at 518: in dbSNP rsrs45530831</li>									<li>rs45552436</li><li>rs45530831</li><li>rs45593931</li><li>rs3742970</li>	2
O60296	66008		<li>V->I at 142: in dbSNP:rs13022344</li><li>T->I at 528: in dbSNP:rs2244438</li><li>I->N at 863: in dbSNP:rs34594680</li>									<li>rs34594680</li><li>rs13022344</li><li>rs2244438</li>	2
O60303	23247		<li>T->M at 522: in dbSNP:rs12930355</li><li>A->S at 535: in dbSNP:rs11643103</li><li>R->Q at 885: in dbSNP:rs16976970</li><li>T->A at 1267: in dbSNP:rs4787984</li><li>R->Q at 1368: in dbSNP:rs11644502</li><li>V->I at 1597: in dbSNP:rs2287790</li>									<li>rs4787984</li><li>rs16976970</li><li>rs2287790</li><li>rs11644502</li><li>rs12930355</li><li>rs11643103</li>	2
O60307	23031		<li>R->Q at 203: in dbSNP:rs35945810</li><li>G->S at 861: in dbSNP:rs8108738</li><li>G->S at 883</li>									<li>rs8108738</li><li>rs35945810</li>	2
O60308	9731		<li>L->I at 414: in dbSNP:rs2275824</li><li>A->V at 686: in dbSNP:rs2275831</li>									<li>rs2275831</li><li>rs2275824</li>	2
O60309	374819		<li>K->E at 1215: in dbSNP:rs9893710</li>									rs9893710	2
O60312	57194		<li>S->Y at 353: in dbSNP:rs17116056</li><li>T->M at 532: in dbSNP:rs2066703</li><li>A->T at 784: in dbSNP:rs2066704</li><li>E->K at 834: in dbSNP:rs17555920</li><li>W->C at 1172: in dbSNP:rs2076742</li><li>A->T at 1179: in dbSNP:rs2076744</li><li>I->V at 1188: in dbSNP:rs2076745</li><li>V->M at 1198: in dbSNP:rs2076746</li><li>R->S at 1298: in dbSNP:rs3816800</li><li>A->V at 1397: in dbSNP:rs9324127</li>									<li>rs2076744</li><li>rs17555920</li><li>rs2066704</li><li>rs17116056</li><li>rs2076746</li><li>rs2076745</li><li>rs3816800</li><li>rs2066703</li><li>rs9324127</li><li>rs2076742</li>	2
O60313	4976		<li>Missing  at 38-43: in OPA1</li><li>S->N at 158: in dbSNP:rs7624750</li><li>P->L at 167</li><li>A->V at 192: in dbSNP:rs34307082</li><li>R->Q at 290: in OPA1, MIM: 165500</li><li>G->E at 300: in OPA1: in dbSNP rsrs28939082, MIM: 165500</li><li>L->R at 396: in OPA1, MIM: 165500</li><li>Missing  at 432: in OPA1, MIM: 165500</li><li>R->H at 445: in OPA1 and optic atrophy with deafness, MIM: 165500</li><li>T->K at 503: in OPA1, MIM: 165500</li><li>S->R at 545: in OPA1, MIM: 165500</li><li>R->H at 571: in OPA1, MIM: 165500</li><li>Missing  at 586-589: in OPA1, MIM: 165500</li><li>L->P at 939: in OPA1, MIM: 165500</li>							<li>Q5RAM3</li><li>O93248</li><li>Q5F499</li><li>O60313</li>	Optic atrophy type 1 (OPA1) [MIM:165500]	<li>rs34307082</li><li>rs28939082</li><li>rs7624750</li>	2
O60315	9839		<li>Missing  at 99: in Hirschsprung disease; atypical form; late infantile</li><li>R->G at 953: in Hirschsprung disease, MIM: 235730</li><li>D->N at 983: in a colorectal cancer sample; somatic mutation, MIM: 235730</li><li>Q->R at 1119: in Hirschsprung disease, MIM: 235730</li>								Hirschsprung disease-mental retardation syndrome (Hirschsprung disease) [MIM:235730]		2
O60318	8888		<li>S->L at 102: in dbSNP:rs9975588</li><li>M->V at 288: in dbSNP:rs17182545</li><li>R->L at 333: in dbSNP:rs17182552</li><li>L->V at 409: in a colorectal cancer sample; somatic mutation</li><li>P->L at 413: in dbSNP:rs17182566</li><li>P->L at 1051: in dbSNP:rs17182850</li><li>V->M at 1062: in dbSNP:rs17182857</li><li>R->W at 1314: in dbSNP:rs17176709</li><li>D->E at 1449: in dbSNP:rs17183220</li><li>V->I at 1576: in dbSNP:rs17183248</li><li>A->T at 1795: in dbSNP:rs17183290</li><li>R->C at 1831: in dbSNP:rs2298697</li><li>L->R at 1870: in dbSNP:rs17176933</li><li>A->V at 1941: in dbSNP:rs17183403</li>									<li>rs2298697</li><li>rs17182857</li><li>rs17183220</li><li>rs17176933</li><li>rs17182566</li><li>rs17182545</li><li>rs17183248</li><li>rs9975588</li><li>rs17182552</li><li>rs17183403</li><li>rs17183290</li><li>rs17182850</li><li>rs17176709</li>	2
O60320			<li>G->D at 276: in dbSNP:rs2306933</li><li>R->H at 375: in dbSNP:rs2256277</li><li>H->R at 393: in dbSNP:rs2256273</li>									<li>rs2256277</li><li>rs2256273</li><li>rs2306933</li>	2
O60331	23396		<li>D->N at 253: in LCCS3; loss of activity, MIM: 611369</li>								Lethal congenital contractural syndrome type 3 (LCCS3) [MIM:611369]		2
O60333	23095		<li>Q->L at 98: in CMT2A1, MIM: 118210</li>								Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210]		2
O60336	23005		<li>Y->S at 204: in dbSNP:rs4354909</li><li>L->V at 313: in dbSNP:rs1201689</li><li>R->P at 1240: in dbSNP:rs3959569</li>									<li>rs4354909</li><li>rs1201689</li><li>rs3959569</li>	2
O60343	9882	<ul><li>S->A at 318: 80% reduction of insulin-stimulated GLUT4 translocation; when associated with A-588, A-642 and A-751</li><li>S->A at 588: 80% reduction of insulin-stimulated GLUT4 translocation; when associated with A-318, A-642 and A-751</li><li>T->A at 642: 80% reduction of insulin-stimulated GLUT4 translocation; when associated with A-318, A-588 and A-751</li><li>S->A at 751: 80% reduction of insulin-stimulated GLUT4 translocation; when associated with A-318, A-588 and A-642</li><li>R->K at 972: Loss of Rab GTPase activation. Only 20% reduction of GLUT4 translocation; even when associated with A-318, A-588, A-6421 and A-751</li></ul>	<li>T->M at 1147: in dbSNP:rs9600455</li><li>V->A at 1275: in dbSNP:rs557337</li><li>L->I at 1284: in dbSNP:rs11616741</li>							<li>P67974</li><li>P67973</li><li>P67971</li><li>P0C236</li><li>P01330</li><li>P69048</li><li>P07453</li><li>P69047</li><li>P42633</li><li>P01324</li><li>Q9XT10</li><li>P68243</li><li>P01320</li><li>P68992</li><li>Q9XST2</li><li>P81423</li><li>P01328</li><li>Q9TQY7</li><li>P01340</li><li>P68990</li><li>P67969</li><li>P68991</li><li>P67968</li><li>P68245</li><li>P14672</li><li>P01336</li><li>P69046</li><li>P81881</li><li>P68988</li><li>P13190</li><li>P01316</li><li>P01334</li><li>P68987</li><li>P01331</li><li>P01314</li><li>P09477</li><li>P01319</li><li>P29335</li><li>P12703</li><li>P09476</li><li>P18109</li><li>P12704</li><li>P68989</li><li>P12708</li><li>Q27994</li>		<li>rs9600455</li><li>rs11616741</li><li>rs557337</li>	3
O60344	9718		<li>H->Y at 101: in dbSNP:rs7633387</li><li>R->Q at 571: in dbSNP:rs35875049</li>									<li>rs7633387</li><li>rs35875049</li>	2
O60353	8323		<li>M->V at 33: in dbSNP:rs827528</li><li>M->L at 345: in dbSNP:rs3808553</li><li>A->E at 664: in dbSNP:rs12549394</li>									<li>rs12549394</li><li>rs827528</li><li>rs3808553</li>	2
O60391	116444		<li>T->M at 157: in dbSNP:rs2240154</li><li>R->W at 404: in dbSNP:rs4807399</li><li>W->R at 414: in dbSNP:rs2240157</li><li>T->M at 577: in dbSNP:rs2240158</li><li>A->T at 845: in dbSNP:rs2285906</li>									<li>rs2240154</li><li>rs2285906</li><li>rs2240158</li><li>rs2240157</li><li>rs4807399</li>	2
O60393			<li>R->H at 355: in POF5, MIM: 611548</li><li>R->Q at 360, MIM: 611548</li><li>D->N at 452, MIM: 611548</li><li>G->S at 482: in dbSNP:rs2525702, MIM: 611548</li><li>F->L at 517: in dbSNP:rs2699503, MIM: 611548</li>								Premature ovarian failure type 5 (POF5) [MIM:611548]	<li>rs2525702</li><li>rs2699503</li>	2
O60403	26538		<li>S->F at 171: in dbSNP:rs1806931</li>									rs1806931	2
O60404	26532		<li>R->S at 7: in dbSNP:rs1966357</li><li>L->I at 14: in dbSNP:rs2240227</li><li>R->H at 54: in dbSNP:rs11670007</li><li>V->M at 224: in dbSNP:rs2240228</li><li>S->N at 293: in dbSNP:rs2240229</li>									<li>rs11670007</li><li>rs2240228</li><li>rs2240227</li><li>rs1966357</li><li>rs2240229</li>	2
O60412	26658		<li>T->M at 118: in dbSNP:rs8113325</li><li>R->H at 122: in dbSNP:rs11883178</li>									<li>rs11883178</li><li>rs8113325</li>	2
O60427	3992		<li>P->S at 272: in dbSNP:rs17856235</li>									rs17856235	2
O60431	126370		<li>P->R at 139: in dbSNP:rs8104843</li><li>F->L at 211: in dbSNP:rs8108721</li><li>Y->S at 252: in dbSNP:rs8105737</li><li>I->T at 292: in dbSNP:rs16980312</li>									<li>rs8108721</li><li>rs8105737</li><li>rs8104843</li><li>rs16980312</li>	2
O60443	1687		<li>P->T at 142: in dbSNP:rs754554</li><li>M->T at 174: in dbSNP:rs876306</li><li>V->M at 207: in dbSNP:rs12540919</li>									<li>rs876306</li><li>rs12540919</li><li>rs754554</li>	2
O60447	7813		<li>D->V at 82: in dbSNP:rs1064580</li><li>V->I at 336: in dbSNP:rs2391199</li><li>Q->H at 612: in dbSNP:rs11808092</li>									<li>rs11808092</li><li>rs1064580</li><li>rs2391199</li>	2
O60449	4065		<li>E->D at 268: in dbSNP:rs2271381</li><li>K->M at 486: in dbSNP:rs2729709</li><li>D->N at 692: in dbSNP:rs1397706</li><li>D->E at 807: in dbSNP:rs3951216</li><li>D->A at 884: in dbSNP:rs3815875</li><li>T->S at 1202: in dbSNP:rs2303549</li><li>N->K at 1321: in dbSNP:rs12692566</li><li>K->R at 1347: in dbSNP:rs17827158</li><li>Y->H at 1391: in dbSNP:rs2059696</li>									<li>rs3951216</li><li>rs2059696</li><li>rs12692566</li><li>rs17827158</li><li>rs3815875</li><li>rs2271381</li><li>rs2303549</li><li>rs1397706</li><li>rs2729709</li>	2
O60462			<li>R->K at 123: in dbSNP:rs849541</li>									rs849541	2
O60469	1826		<li>D->E at 232: in dbSNP:rs2297270</li>									rs2297270	2
O60477	1620		<li>S->R at 347: common polymorphism</li><li>R->H at 358: common polymorphism; dbSNP:rs17476783</li><li>A->T at 437: in dbSNP:rs1043377</li><li>P->T at 712: in a colorectal cancer sample; somatic mutation</li>									<li>rs1043377</li><li>rs17476783</li>	2
O60481	7547		<li>P->A at 217: in heart disease; with non-congenital heterotaxy</li><li>C->S at 253: in HTX1, MIM: 306955</li><li>W->G at 255: in HTX1; decreased protein expression, decreased transcriptional activity and decreased nuclear localization, MIM: 306955</li><li>H->R at 286: in HTX1, MIM: 306955</li><li>T->M at 323: in HTX1, MIM: 306955</li><li>K->E at 405: in HTX1, MIM: 306955</li>	localization	GO:0051179						X-linked visceral heterotaxy (HTX1) [MIM:306955]		2
O60486	10154		<li>E->K at 1499: in dbSNP:rs11107500</li>									rs11107500	2
O60488	2182		<li>R->C at 133: in a colorectal cancer sample; somatic mutation</li><li>R->S at 570: in MRX63, MIM: 300387</li>								Mental retardation X-linked type 63 (MRX63) [MIM:300387]		2
O60494	8029		<li>G->R at 66: in dbSNP:rs12259370</li><li>F->I at 124: in dbSNP:rs1801220</li><li>S->F at 253: in dbSNP:rs1801222</li><li>P->T at 389: in dbSNP:rs1801224</li><li>I->M at 504: in dbSNP:rs2228053</li><li>H->Y at 730: in dbSNP:rs7905349</li><li>H->Q at 786: in a breast cancer sample; somatic mutation</li><li>L->V at 969: in dbSNP:rs11254354</li><li>Y->H at 1032: in dbSNP:rs1801227</li><li>P->L at 1297: in MGA1; decreases strongly the GIF binding affinity: in dbSNP rsrs28939699, MIM: 261100</li><li>N->Y at 1545, MIM: 261100</li><li>P->S at 1559: in dbSNP:rs1801231, MIM: 261100</li><li>V->I at 1769, MIM: 261100</li><li>R->W at 1775: in dbSNP:rs1276708, MIM: 261100</li><li>G->S at 1840: in dbSNP:rs2271462, MIM: 261100</li><li>S->G at 1935: in dbSNP:rs41289305, MIM: 261100</li><li>P->T at 1971: in dbSNP:rs2356590, MIM: 261100</li><li>L->F at 2153, MIM: 261100</li><li>C->Y at 2162: in dbSNP:rs1276712, MIM: 261100</li><li>A->V at 2252: in a colorectal cancer sample; somatic mutation, MIM: 261100</li><li>F->C at 2263: in dbSNP:rs2271460, MIM: 261100</li><li>R->Q at 2444: in dbSNP:rs11254274, MIM: 261100</li><li>P->R at 2575: in dbSNP:rs3740168, MIM: 261100</li><li>G->R at 2691: in dbSNP:rs1801237, MIM: 261100</li><li>S->W at 2717: in dbSNP:rs2796835, MIM: 261100</li><li>L->I at 2879: in dbSNP:rs45474496, MIM: 261100</li><li>A->V at 2914: in a breast cancer sample; somatic mutation; dbSNP:rs45551835, MIM: 261100</li><li>E->Q at 2968: in dbSNP:rs45569534, MIM: 261100</li><li>I->V at 2984: in dbSNP:rs1801239, MIM: 261100</li><li>E->G at 3002: in dbSNP:rs1801240, MIM: 261100</li><li>I->V at 3189: in a breast cancer sample; somatic mutation, MIM: 261100</li><li>T->I at 3422: in dbSNP rsrs1801230, MIM: 261100</li><li>N->K at 3552: in dbSNP:rs1801232, MIM: 261100</li>			binding	GO:0005488			<li>Q5XWD5</li><li>P14174</li><li>P27352</li><li>P53050</li><li>P80928</li><li>P37359</li><li>P34884</li><li>Q2PS21</li><li>P25713</li><li>P37360</li><li>P37361</li><li>P28184</li><li>P55944</li>	Recessive hereditary megaloblastic anemia 1 (MGA1) [MIM:261100]	<li>rs2796835</li><li>rs1801220</li><li>rs12259370</li><li>rs1801240</li><li>rs11254274</li><li>rs1801227</li><li>rs11254354</li><li>rs1801222</li><li>rs2228053</li><li>rs1801224</li><li>rs7905349</li><li>rs2356590</li><li>rs45569534</li><li>rs41289305</li><li>rs1276708</li><li>rs28939699</li><li>rs1801230</li><li>rs1801231</li><li>rs45474496</li><li>rs1801232</li><li>rs1801239</li><li>rs1801237</li><li>rs1276712</li><li>rs3740168</li><li>rs45551835</li><li>rs2271462</li><li>rs2271460</li>	2
O60496	9046		<li>A->P at 152: in dbSNP:rs1140295</li><li>P->L at 274: in dbSNP:rs34215892</li><li>S->A at 394: in dbSNP:rs2242241</li>									<li>rs2242241</li><li>rs34215892</li><li>rs1140295</li>	2
O60500	4868		<li>W->S at 64: in CNF</li><li>E->K at 117: in dbSNP:rs3814995</li><li>I->N at 171: in CNF</li><li>Missing  at 172: in CNF</li><li>I->N at 173: in CNF</li><li>TPR->I at 205-207: in CNF</li><li>T->A at 233: in dbSNP:rs35238405</li><li>G->C at 270: in CNF</li><li>S->P at 350: in CNF</li><li>S->R at 366: in CNF</li><li>R->C at 367: in CNF</li><li>P->S at 368: in CNF</li><li>L->V at 376: in CNF</li><li>L->P at 392: in dbSNP:rs34320609</li><li>R->Q at 408: in CNF; could be a polymorphism; dbSNP:rs33950747</li><li>E->K at 447: in CNF: in dbSNP rsrs28939695</li><li>C->Y at 465: in CNF</li><li>C->F at 528: in CNF</li><li>L->Q at 610: in CNF</li><li>C->F at 623: in CNF</li><li>S->C at 724: in CNF</li><li>R->C at 743: in CNF</li><li>R->P at 802: in CNF</li><li>R->W at 802: in CNF</li><li>A->D at 806: in CNF</li><li>D->V at 819: in CNF</li><li>R->C at 831: in CNF</li><li>V->L at 991: in dbSNP:rs34736717</li><li>N->S at 1077: in dbSNP:rs4806213</li><li>R->C at 1140: in CNF</li>							Q02011		<li>rs35238405</li><li>rs34320609</li><li>rs33950747</li><li>rs3814995</li><li>rs28939695</li><li>rs4806213</li><li>rs34736717</li>	2
O60502	10724		<li>G->E at 46: in dbSNP:rs3740421</li><li>E->K at 602: in dbSNP:rs17853930</li>									<li>rs3740421</li><li>rs17853930</li>	2
O60503	115		<li>I->M at 772: in 37.5% of the Asian population, in 30% of the Caucasian population and in 16.3% of the African-American population; reduced adenylyl cyclase activity in response to stimulation of the beta-adregnergic receptor by the agonists Mn: in dbSNP rsrs2230739</li>							<li>P30528</li><li>P23466</li><li>P00936</li><li>Q59685</li><li>Q9WXC3</li><li>Q99279</li><li>P0A1A7</li><li>P0A1A8</li><li>Q05766</li><li>Q57506</li><li>P40134</li><li>Q99280</li><li>P40135</li><li>Q26896</li><li>P40130</li><li>P14605</li><li>Q59119</li><li>P40136</li><li>P26338</li><li>P43524</li><li>P27580</li><li>P08678</li><li>P40127</li><li>Q03101</li><li>Q8XAP1</li><li>Q03100</li><li>Q8FBP0</li><li>P0A4Y1</li><li>P0A4Y0</li><li>P15318</li><li>Q01513</li><li>P59739</li><li>P49606</li><li>Q26721</li><li>Q25263</li><li>Q01631</li><li>Q99396</li><li>Q27675</li>		rs2230739	2
O60513	8702		<li>Q->E at 116: in dbSNP:rs3764779</li>									rs3764779	2
O60522	221400		<li>R->Q at 192: in dbSNP:rs7750596</li><li>T->A at 398: in dbSNP:rs3799277</li><li>I->M at 795: in dbSNP:rs9463234</li><li>Q->E at 1014: in dbSNP:rs9381472</li>									<li>rs9463234</li><li>rs7750596</li><li>rs3799277</li><li>rs9381472</li>	2
O60524	9147		<li>C->S at 257: in dbSNP:rs3100906</li>									rs3100906	2
O60543	1149		<li>V->F at 115: in dbSNP:rs45619832</li>									rs45619832	2
O60568	8985		<li>A->V at 151: in dbSNP:rs35627324</li><li>N->S at 223: in LH3 deficiency, MIM: 612394</li><li>R->W at 286: in dbSNP:rs1134907, MIM: 612394</li>							<li>Q5R6K5</li><li>Q9R0E1</li><li>Q5U367</li><li>O60568</li>	Lysyl hydroxylase 3 deficiency (LH3 deficiency) [MIM:612394]	<li>rs1134907</li><li>rs35627324</li>	2
O60575	27290		<li>V->I at 7: in dbSNP:rs706107</li>									rs706107	2
O60602	7100		<li>T->I at 82: in dbSNP:rs764535</li><li>P->A at 112: in dbSNP:rs5744166</li><li>Missing  at 392-858: in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1</li><li>N->S at 592: in dbSNP:rs2072493</li><li>F->L at 616: in dbSNP:rs5744174</li><li>F->L at 822: in dbSNP:rs7512943</li>							<li>Q06971</li><li>Q06972</li><li>Q06973</li><li>Q56826</li><li>Q06974</li><li>Q92DW3</li><li>Q06970</li><li>P46210</li><li>O67803</li><li>Q06064</li><li>P04949</li><li>Q05203</li><li>P11089</li><li>P02968</li><li>P80583</li><li>Q06969</li><li>Q06968</li><li>P53606</li><li>Q06982</li><li>Q06983</li><li>Q06981</li><li>P06177</li><li>P06176</li><li>P13713</li><li>P06175</li><li>P06179</li><li>P06178</li><li>Q08860</li><li>P35633</li><li>P83150</li><li>P35634</li><li>Q02551</li>		<li>rs7512943</li><li>rs5744166</li><li>rs5744174</li><li>rs764535</li><li>rs2072493</li>	2
O60635	10103		<li>S->F at 38: in dbSNP:rs2234267</li><li>V->M at 87: in dbSNP:rs2234268</li>									<li>rs2234267</li><li>rs2234268</li>	2
O60636	10100		<li>R->L at 118: in dbSNP:rs9659602</li>									rs9659602	2
O60656	54600		<li>S->I at 442: in a breast cancer sample; somatic mutation</li>										2
O60662	10324		<li>A->T at 271: in dbSNP:rs28763868</li><li>M->V at 481: in dbSNP:rs34623017</li>									<li>rs34623017</li><li>rs28763868</li>	2
O60663	4010		<li>C->R at 36: in NPS, MIM: 161200</li><li>C->S at 36: in NPS, MIM: 161200</li><li>S->F at 52: in dbSNP:rs2235058, MIM: 161200</li><li>H->N at 54: in NPS, MIM: 161200</li><li>H->Q at 54: in NPS, MIM: 161200</li><li>H->Y at 54: in NPS, MIM: 161200</li><li>C->R at 57: in NPS, MIM: 161200</li><li>L->W at 58: in NPS, MIM: 161200</li><li>C->F at 60: in NPS, MIM: 161200</li><li>C->G at 60: in NPS, MIM: 161200</li><li>C->W at 60: in NPS, MIM: 161200</li><li>C->Y at 60: in NPS, MIM: 161200</li><li>C->R at 63: in NPS, MIM: 161200</li><li>C->W at 80: in NPS, MIM: 161200</li><li>D->G at 83: in NPS, MIM: 161200</li><li>C->F at 95: in NPS, MIM: 161200</li><li>C->Y at 95: in NPS, MIM: 161200</li><li>H->Y at 114: in NPS, MIM: 161200</li><li>C->Y at 117: in NPS, MIM: 161200</li><li>C->S at 120: in NPS, MIM: 161200</li><li>C->F at 123: in NPS, MIM: 161200</li><li>C->Y at 123: in NPS, MIM: 161200</li><li>C->W at 142: in NPS, MIM: 161200</li><li>R->Q at 200: in NPS: in dbSNP rsrs28939692, MIM: 161200</li><li>A->P at 213: in NPS, MIM: 161200</li><li>S->P at 218: in NPS, MIM: 161200</li><li>R->P at 226: in NPS, MIM: 161200</li><li>L->P at 229: in NPS, MIM: 161200</li><li>A->V at 230: in NPS, MIM: 161200</li><li>W->C at 243: in NPS, MIM: 161200</li><li>N->K at 246: in NPS, MIM: 161200</li>							<li>P0C0P6</li><li>P0C0P5</li>	Nail-patella syndrome (NPS) [MIM:161200]	<li>rs2235058</li><li>rs28939692</li>	2
O60664	10226		<li>I->V at 56: in dbSNP:rs8289</li><li>A->V at 275: in dbSNP:rs9973235</li>									<li>rs8289</li><li>rs9973235</li>	2
O60669			<li>S->T at 445: in dbSNP:rs3763980</li>									rs3763980	2
O60673	5980		<li>Q->H at 231: in dbSNP rsrs1053911</li><li>S->T at 389</li><li>Q->P at 397: in dbSNP:rs3218579</li><li>S->G at 633: in dbSNP:rs3218598</li><li>M->T at 693: in dbSNP:rs3218593</li><li>R->Q at 962: in dbSNP rsrs17539588</li><li>Y->C at 1156: in dbSNP:rs458017</li><li>S->L at 1220: in dbSNP:rs3218600</li><li>T->I at 1224: in dbSNP:rs462779</li><li>T->P at 1284: in dbSNP:rs3218578</li><li>S->T at 1302: in dbSNP:rs3218597</li><li>Q->H at 1309: in dbSNP:rs3218595</li><li>P->T at 1339: in dbSNP rsrs17539616</li><li>Q->P at 1469: in dbSNP:rs3218572</li><li>K->E at 1540: in dbSNP:rs1053913</li><li>S->L at 1576: in dbSNP:rs3218582</li><li>D->N at 1713: in dbSNP:rs3218585</li><li>S->T at 1724: in dbSNP rsrs17539644</li><li>P->S at 1791: in dbSNP:rs17539651</li><li>D->H at 1812: in dbSNP:rs3218599</li><li>G->R at 1923: in dbSNP:rs3218604</li><li>R->H at 1970: in dbSNP:rs3218606</li><li>E->V at 2015: in dbSNP:rs17539692</li><li>I->M at 2075: in dbSNP rsrs17510963</li><li>S->T at 2607</li><li>R->Q at 2762: in dbSNP:rs3218592</li><li>V->I at 3064: in dbSNP:rs3204953</li>									<li>rs3218600</li><li>rs17539651</li><li>rs3218599</li><li>rs17539692</li><li>rs3218597</li><li>rs17539644</li><li>rs3204953</li><li>rs3218598</li><li>rs3218595</li><li>rs3218593</li><li>rs3218606</li><li>rs3218592</li><li>rs458017</li><li>rs3218604</li><li>rs462779</li><li>rs3218578</li><li>rs3218572</li><li>rs17539616</li><li>rs3218579</li><li>rs3218582</li><li>rs17510963</li><li>rs3218585</li><li>rs1053911</li><li>rs1053913</li><li>rs17539588</li>	2
O60674	3717		<li>G->D at 127: in dbSNP rsrs56118985</li><li>K->Q at 191: in an ovarian serous carcinoma sample; somatic mutation</li><li>K->R at 346: in dbSNP rsrs55667734</li><li>A->E at 377: in dbSNP rsrs55953208</li><li>L->V at 393: in dbSNP:rs2230723</li><li>FHK->L at 537-539: in myeloproliferative disorder with erythrocytosis</li><li>HK->QL at 538-539: in myeloproliferative disorder with erythrocytosis</li><li>K->L at 539: in myeloproliferative disorder with erythrocytosis; requires 2 nucleotide substitutions</li><li>D->E at 584: in dbSNP:rs17490221</li><li>K->N at 607: in AML, MIM: 601626</li><li>V->F at 617: in PV and AML; associated with susceptibility to Budd-Chiari syndrome; somatic mutation in a high percentage of patients with essential thrombocythemia or myelofibrosis; leads to constitutive tyrosine phosphorylation activity that promotes cytokine hypersensitivity, MIM: 263300</li><li>R->H at 1063: in dbSNP:rs41316003, MIM: 263300</li>	phosphorylation	GO:0016310					<li>P60168</li><li>Q9EMA9</li><li>P60167</li><li>P60169</li><li>P03422</li><li>P23055</li><li>Q00793</li><li>P19847</li><li>Q06427</li><li>Q06428</li><li>Q03335</li><li>P60166</li><li>P36315</li><li>P19717</li><li>P26033</li><li>P33483</li><li>Q03340</li><li>Q9WS39</li><li>P26036</li><li>P22044</li><li>P35939</li><li>P35974</li><li>Q9IC37</li><li>Q86606</li><li>P06940</li><li>P21740</li><li>P16595</li><li>P30928</li><li>P30927</li><li>P23056</li><li>Q9QM81</li><li>P11208</li><li>P23057</li><li>P11207</li><li>P35945</li><li>P35941</li><li>P21738</li><li>P21739</li><li>P16072</li>	<li>Polycythemia vera (PV) [MIM:263300]</li><li>Acute myelogenous leukemia (AML) [MIM:601626]</li>	<li>rs55953208</li><li>rs55667734</li><li>rs17490221</li><li>rs2230723</li><li>rs56118985</li><li>rs41316003</li>	2
O60676	10047		<li>A->P at 142: in dbSNP:rs1054633</li>									rs1054633	2
O60678	10196		<li>L->V at 440: in dbSNP:rs3758805</li><li>S->C at 470: in dbSNP:rs11025585</li><li>N->S at 508: in dbSNP:rs6483700</li>									<li>rs11025585</li><li>rs3758805</li><li>rs6483700</li>	2
O60683	5192		<li>H->Q at 290: in NALD, MIM: 202370</li>								Adrenoleukodystrophy neonatal (NALD) [MIM:202370]		2
O60687	27286		<li>Y->S at 72: in BPP; affects intracellular processing, MIM: 300388</li><li>T->S at 287: in dbSNP:rs17851822, MIM: 300388</li><li>N->S at 327: in RESDX; results in a gain of glycosylation; affects intracellular processing, MIM: 300643</li>					intracellular	GO:0005622	P08318	<li>X-linked rolandic epilepsy with speech dyspraxia and mental retardation (RESDX) [MIM:300643]</li><li>Bilateral perisylvian polymicrogyria (BPP) [MIM:300388]</li>	rs17851822	2
O60706	10060		<li>P->S at 1108: in dbSNP:rs35404804</li><li>A->T at 1513: in CMD1O, MIM: 608569</li>								Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	rs35404804	2
O60711	9404		<li>P->T at 148: in dbSNP:rs12271558</li>									rs12271558	2
O60716	1500		<li>S->F at 171: in dbSNP:rs11229133</li><li>Y->C at 217: in dbSNP:rs11570194</li><li>R->C at 464: in dbSNP:rs11570199</li><li>R->K at 915: in dbSNP:rs11570222</li>									<li>rs11570199</li><li>rs11229133</li><li>rs11570194</li><li>rs11570222</li>	2
O60721	9187		<li>T->S at 37: in dbSNP:rs3743171</li><li>V->L at 311: in dbSNP:rs34363823</li><li>L->V at 313: in dbSNP:rs35571449</li>									<li>rs3743171</li><li>rs35571449</li><li>rs34363823</li>	2
O60729	8555		<li>I->T at 302: in dbSNP:rs16911114</li><li>I->T at 341: in dbSNP:rs16911075</li>									<li>rs16911114</li><li>rs16911075</li>	2
O60732	9947		<li>C->Y at 25: in dbSNP:rs176036</li><li>T->I at 151: in dbSNP:rs176037</li><li>Q->H at 257: in dbSNP:rs176047</li><li>F->S at 276: in dbSNP:rs1055491</li>									<li>rs1055491</li><li>rs176047</li><li>rs176036</li><li>rs176037</li>	2
O60733	8398		<li>V->I at 58: in dbSNP:rs11570605</li><li>R->G at 63: in dbSNP:rs11570606</li><li>R->Q at 70: in dbSNP:rs11570607</li><li>D->N at 183: in dbSNP:rs11570646</li><li>V->E at 310: in INAD1, MIM: 256600</li><li>A->T at 343: in dbSNP:rs11570680, MIM: 256600</li><li>K->T at 545: in NBIA, MIM: 610217</li><li>R->W at 632: in Karak syndrome, MIM: 608395</li><li>Missing  at 691: in INAD1, MIM: 608395</li><li>S->T at 774: in dbSNP:rs34184838, MIM: 608395</li>								<li>Neurodegeneration with brain iron accumulation (NBIA) [MIM:610217]</li><li>Infantile neuroaxonal dystrophy 1 (INAD1) [MIM:256600]</li><li>Karak syndrome [MIM:608395]</li>	<li>rs11570607</li><li>rs11570680</li><li>rs11570606</li><li>rs11570605</li><li>rs34184838</li><li>rs11570646</li>	2
O60755	8484		<li>R->G at 342: in dbSNP:rs8137541</li>									rs8137541	2
O60762	8813		<li>R->G at 92: in CDG1E, MIM: 608799</li><li>S->P at 248: in CDG1E, MIM: 608799</li>								Congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799]		2
O60774			<li>V->I at 127</li><li>V->I at 257</li>										2
O60779	10560		<li>D->H at 93: in TRMA, MIM: 249270</li><li>S->F at 143: in TRMA, MIM: 249270</li><li>G->D at 172: in TRMA: in dbSNP rsrs28937595, MIM: 249270</li>							O60779	Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]	rs28937595	2
O60784	10043		<li>R->H at 84: in dbSNP:rs11558473</li><li>M->V at 264: in dbSNP:rs34371697</li>									<li>rs34371697</li><li>rs11558473</li>	2
O60806	9095		<li>S->F at 128: in ACTHD, MIM: 201400</li>								ACTH deficiency [MIM:201400]		2
O60809	343071		<li>K->I at 99: in dbSNP:rs3121398</li><li>H->R at 144: in dbSNP:rs2797709</li><li>T->A at 306: in dbSNP:rs848424</li><li>G->R at 402: in dbSNP:rs1736772</li>									<li>rs3121398</li><li>rs2797709</li><li>rs848424</li><li>rs1736772</li>	2
O60810	400735		<li>D->E at 85: in dbSNP:rs4625290</li>									rs4625290	2
O60811	65122		<li>V->G at 67: in dbSNP:rs3204790</li><li>S->W at 68: in dbSNP:rs17038657</li><li>T->R at 72: in dbSNP:rs9659529</li><li>E->K at 83: in dbSNP:rs9728577</li><li>A->T at 128: in dbSNP:rs17039442</li><li>T->M at 141: in dbSNP:rs17038667</li><li>Y->C at 225: in dbSNP:rs3204805</li><li>T->N at 233: in dbSNP:rs17038692</li><li>T->A at 301: in dbSNP:rs12139546</li><li>C->Y at 302: in dbSNP:rs17404799</li><li>N->Y at 304: in dbSNP:rs17404806</li><li>E->G at 308: in dbSNP:rs12139550</li><li>L->M at 310: in dbSNP:rs17039283</li><li>F->Y at 316: in dbSNP:rs17039293</li><li>C->R at 375: in dbSNP:rs17039307</li>									<li>rs17404806</li><li>rs3204790</li><li>rs17404799</li><li>rs17038667</li><li>rs12139550</li><li>rs17038657</li><li>rs17039442</li><li>rs17039307</li><li>rs3204805</li><li>rs12139546</li><li>rs17039283</li><li>rs17039293</li><li>rs9659529</li><li>rs9728577</li><li>rs17038692</li>	2
O60812	343069		<li>Q->H at 208: in dbSNP:rs6702447</li><li>V->D at 258: in dbSNP:rs2076063</li>									<li>rs6702447</li><li>rs2076063</li>	2
O60831	11230		<li>L->F at 56: in dbSNP:rs34565429</li>									rs34565429	2
O60832	1736		<li>A->V at 2: in XDKC, MIM: 305000</li><li>F->V at 36: in XDKC, MIM: 305000</li><li>Missing  at 37: in XDKC, MIM: 305000</li><li>I->T at 38: in HHS: in dbSNP rsrs28936072, MIM: 300240</li><li>K->E at 39: in XDKC, MIM: 305000</li><li>P->R at 40: in XDKC, MIM: 305000</li><li>E->K at 41: in XDKC, MIM: 305000</li><li>T->M at 49: in HHS, MIM: 300240</li><li>R->T at 65: in XDKC, MIM: 305000</li><li>T->A at 66: in XDKC, MIM: 305000</li><li>L->Y at 72: in XDKC; requires 2 nucleotide substitutions, MIM: 305000</li><li>S->G at 121: in HHS, MIM: 300240</li><li>G->D at 223: in dbSNP:rs2728533, MIM: 300240</li><li>L->V at 321: in XDKC, MIM: 305000</li><li>M->I at 350: in XDKC, MIM: 305000</li><li>M->T at 350: in XDKC, MIM: 305000</li><li>A->V at 353: in XDKC and HHS: in dbSNP rsrs28935173, MIM: 300240</li><li>G->E at 402: in XDKC, MIM: 305000</li><li>G->R at 402: in XDKC, MIM: 305000</li>								<li>Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]</li><li>Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]</li>	<li>rs28935173</li><li>rs28936072</li><li>rs2728533</li>	2
O60840			<li>P->L at 14: in dbSNP:rs6520408</li><li>C->R at 74: in CSNB2A, MIM: 300071</li><li>G->R at 150: in CSNB2A, MIM: 300071</li><li>S->P at 229: in CSNB2A, MIM: 300071</li><li>G->R at 261: in CSNB2A, MIM: 300071</li><li>G->D at 369: in CSNB2A, MIM: 300071</li><li>R->Q at 519: in CSNB2A; dbSNP:rs34162630, MIM: 300071</li><li>V->I at 635: in CSNB2A, MIM: 300071</li><li>G->D at 674: in CSNB2A, MIM: 300071</li><li>N->T at 746, MIM: 300071</li><li>F->C at 753: in CSNB2A, MIM: 300071</li><li>I->T at 756: in CSNB2A; increases the number of mutant channels open at physiologic membrane potential and allows for persistent Ca, MIM: 300071</li><li>L->P at 860: in CSNB2A, MIM: 300071</li><li>A->D at 928: in CSNB2A, MIM: 300071</li><li>G->R at 1018: in CSNB2A, MIM: 300071</li><li>R->W at 1060: in CSNB2A, MIM: 300071</li><li>L->P at 1079: in CSNB2A, MIM: 300071</li><li>A->T at 1270: in dbSNP:rs34308720, MIM: 300071</li><li>L->H at 1375: in CSNB2A, MIM: 300071</li><li>C->R at 1499: in CSNB2A, MIM: 300071</li><li>P->R at 1500: in CSNB2A, MIM: 300071</li><li>L->P at 1508: in CSNB2A, MIM: 300071</li><li>R->H at 1930: in dbSNP:rs33910054, MIM: 300071</li>					membrane	GO:0016020		Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]	<li>rs33910054</li><li>rs34308720</li><li>rs6520408</li>	2
O60844	123887		<li>S->G at 32: in dbSNP:rs235636</li><li>T->S at 162: in dbSNP:rs235638</li>									<li>rs235636</li><li>rs235638</li>	2
O60858	10206		<li>S->T at 355: in dbSNP:rs1056543</li>									rs1056543	2
O60879	1730		<li>F->L at 425: in dbSNP:rs20361</li><li>L->V at 426: in dbSNP:rs20361</li>									rs20361	2
O60882	9313		<li>T->K at 18: in dbSNP:rs2245803</li><li>D->N at 139: in dbSNP:rs17099014</li><li>I->L at 169: in dbSNP:rs17099008</li><li>V->A at 275: in dbSNP:rs1784423</li><li>T->P at 281: in dbSNP:rs1784424</li>									<li>rs1784423</li><li>rs1784424</li><li>rs2245803</li><li>rs17099014</li><li>rs17099008</li>	2
O60883	9283		<li>P->A at 81: in dbSNP:rs3795594</li><li>D->G at 90: in dbSNP:rs3795595</li><li>K->R at 91: in dbSNP:rs17854616</li>									<li>rs3795595</li><li>rs3795594</li><li>rs17854616</li>	2
O60885	23476		<li>P->S at 37: in dbSNP rsrs35177876</li><li>A->G at 371: in dbSNP rsrs55805532</li><li>S->N at 563: in dbSNP rsrs55970906</li><li>T->S at 598: in dbSNP rsrs34362023</li><li>R->H at 669: in dbSNP rsrs35824241</li><li>R->H at 1097: in dbSNP:rs35676845</li>									<li>rs34362023</li><li>rs35824241</li><li>rs35676845</li><li>rs55970906</li><li>rs35177876</li><li>rs55805532</li>	2
O60890	4983		<li>A->T at 45</li><li>T->M at 301</li><li>M->I at 693: in dbSNP:rs36095561</li>									rs36095561	2
O60896	10268		<li>G->D at 26: in dbSNP:rs10272187</li><li>M->L at 33: in dbSNP:rs11550711</li><li>W->R at 56: in dbSNP:rs2074654</li>									<li>rs11550711</li><li>rs2074654</li><li>rs10272187</li>	2
O60906	6610		<li>P->L at 3: in dbSNP:rs1048197</li><li>V->I at 223: in dbSNP:rs9386806</li><li>R->S at 265: in dbSNP:rs1476387</li>									<li>rs9386806</li><li>rs1476387</li><li>rs1048197</li>	2
O60909	8704		<li>Q->H at 122: in dbSNP:rs1859728</li><li>G->R at 338: in dbSNP:rs35904809</li>									<li>rs35904809</li><li>rs1859728</li>	2
O60921	3364		<li>S->G at 126: in dbSNP:rs2307261</li><li>Q->K at 147: in dbSNP:rs2307254</li><li>D->E at 221: in dbSNP:rs3176588</li>									<li>rs3176588</li><li>rs2307254</li><li>rs2307261</li>	2
O60925	5201		<li>M->R at 67: in dbSNP:rs1064061</li>									rs1064061	2
O60928	3769		<li>R->W at 162: in SVD; overexpression produces a non-selective cation current that depolarizes transfected cells and increases their fragility, MIM: 193230</li><li>T->I at 175: in dbSNP:rs1801251, MIM: 193230</li><li>P->Q at 290: in dbSNP:rs17853727, MIM: 193230</li><li>G->C at 309: in dbSNP:rs17857137, MIM: 193230</li>								Snowflake vitreoretinal degeneration (SVD) [MIM:193230]	<li>rs1801251</li><li>rs17857137</li><li>rs17853727</li>	2
O60930	246243		<li>L->F at 4: in dbSNP:rs1136545</li>									rs1136545	2
O60931			<li>V->I at 42: in cystinosis; intermediate, MIM: 219800</li><li>Missing  at 67-73: in cystinosis; late-onset, MIM: 219800</li><li>G->V at 110: in cystinosis; atypical, MIM: 219800</li><li>I->F at 133: in cystinosis, MIM: 219800</li><li>S->F at 139: in cystinosis; non-classical, MIM: 219800</li><li>S->SPCS at 154: in cystinosis; late-onset, MIM: 219800</li><li>L->P at 158: in cystinosis, MIM: 219800</li><li>G->D at 169: in cystinosis, MIM: 219800</li><li>N->T at 177: in cystinosis, MIM: 219800</li><li>W->R at 182: in cystinosis, MIM: 219800</li><li>G->R at 197: in cystinosis; benign, MIM: 219800</li><li>P->L at 200: in cystinosis, MIM: 219800</li><li>D->N at 205: in cystinosis, MIM: 219800</li><li>Missing  at 205: in cystinosis, MIM: 219800</li><li>Q->R at 222: in cystinosis, MIM: 219800</li><li>Missing  at 270: in cystinosis, MIM: 219800</li><li>K->R at 280: in cystinosis; intermediate, MIM: 219800</li><li>N->K at 288: in cystinosis, MIM: 219800</li><li>K->R at 292: in cystinosis; could be a polymorphism; dbSNP:rs1800527, MIM: 219800</li><li>S->N at 298: in cystinosis, MIM: 219800</li><li>D->G at 305: in cystinosis, MIM: 219800</li><li>D->Y at 305: in cystinosis, MIM: 219800</li><li>G->R at 308: in cystinosis, MIM: 219800</li><li>N->K at 323: in cystinosis; intermediate, MIM: 219800</li><li>L->P at 338: in cystinosis, MIM: 219800</li><li>G->R at 339: in cystinosis, MIM: 219800</li><li>Missing  at 343-346: in cystinosis, MIM: 219800</li><li>Missing  at 346-349: in cystinosis, MIM: 219800</li><li>D->N at 346: in cystinosis; non-classical, MIM: 219800</li><li>F->FDVEF at 349: in cystinosis, MIM: 219800</li>								Cystinosis [MIM:219800, 219900, 219750]		2
O60938	11081		<li>T->K at 215: in CNA2, MIM: 217300</li><li>V->G at 235: in dbSNP:rs737111, MIM: 217300</li><li>N->S at 247: in CNA2, MIM: 217300</li>							<li>P14747</li><li>P63098</li><li>P63099</li><li>P16298</li>	The autosomal recessive cornea plana 2 (CNA2) [MIM:217300]	rs737111	2
O60939	6327		<li>R->W at 28: in dbSNP:rs17121819</li><li>R->H at 47: in dbSNP:rs17121818</li>									<li>rs17121818</li><li>rs17121819</li>	2
O75015	2215		<li>S->R at 36: in allele FCGR3B*01</li><li>S->N at 65: in allele FCGR3B*01; dbSNP:rs448740</li><li>A->D at 78: in allele SH: in dbSNP rsrs5030738</li><li>N->D at 82: in allele FCGR3B*01</li><li>I->V at 106: in allele FCGR3B*01</li>							O75015		rs5030738	2
O75019	11024		<li>S->G at 153: in dbSNP:rs10417589</li><li>L->P at 220: in dbSNP:rs373854</li>									<li>rs10417589</li><li>rs373854</li>	2
O75022			<li>V->M at 21: in dbSNP:rs1132588</li><li>Q->R at 59: in dbSNP:rs678876</li><li>L->W at 69: in dbSNP:rs620207</li><li>Q->E at 90: in dbSNP:rs1052963</li><li>S->N at 122: in dbSNP:rs3826750</li><li>R->Q at 205: in dbSNP:rs1063805</li><li>Y->F at 400: in dbSNP:rs8105096</li><li>Y->H at 400: in dbSNP:rs1052992</li><li>Y->R at 400: requires 2 nucleotide substitutions</li><li>Y->H at 405: in dbSNP:rs1132604</li><li>H->Q at 539: in dbSNP:rs1053002</li><li>A->V at 574: in dbSNP:rs1053008</li>									<li>rs1052992</li><li>rs1052963</li><li>rs1132588</li><li>rs1053008</li><li>rs1053002</li><li>rs1063805</li><li>rs1132604</li><li>rs8105096</li><li>rs678876</li><li>rs3826750</li><li>rs620207</li>	2
O75027	22		<li>R->G at 315</li><li>F->I at 346</li><li>I->M at 400: in ASAT, MIM: 301310</li><li>V->L at 411: in ASAT, MIM: 301310</li><li>E->K at 433: in ASAT; impaired maturation of cytosolic Fe/S proteins, MIM: 301310</li><li>V->A at 581: in dbSNP:rs1340989, MIM: 301310</li>							P84285	X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	rs1340989	2
O75051	5362		<li>R->Q at 5: in dbSNP:rs2782948</li>									rs2782948	2
O75054	3321		<li>S->P at 51: in dbSNP:rs3965246</li><li>D->E at 1020: in dbSNP:rs647711</li><li>Q->R at 1073: in dbSNP:rs6703791</li>									<li>rs6703791</li><li>rs3965246</li><li>rs647711</li>	2
O75056	9672		<li>V->I at 208: in dbSNP:rs2491132</li><li>D->N at 303: in dbSNP:rs4949184</li><li>T->I at 324: in dbSNP:rs2282440</li><li>T->I at 329: in dbSNP:rs2282440</li>									<li>rs2491132</li><li>rs2282440</li><li>rs4949184</li>	2
O75061	9829		<li>S->N at 671: in dbSNP:rs4915691</li>									rs4915691	2
O75071	9813		<li>L->P at 337: in dbSNP:rs6665021</li>									rs6665021	2
O75072	2218		<li>G->S at 125: in dbSNP:rs34006675</li><li>R->T at 179: in CMD1X, MIM: 611615</li><li>R->Q at 203: in dbSNP:rs34787999, MIM: 611615</li><li>D->E at 225: in a breast cancer sample; somatic mutation, MIM: 611615</li><li>D->N at 225: in a breast cancer sample; somatic mutation, MIM: 611615</li><li>C->G at 250: in FCMD, MIM: 253800</li><li>R->Q at 307: in LGMD2M; the mutant protein is expressed and localized correctly within the cell, MIM: 611588</li><li>Q->P at 358: in CMD1X, MIM: 611615</li><li>N->D at 446: in dbSNP:rs41313301, MIM: 611615</li>							O75072	<li>Congenital muscular dystrophy Fukuyama type (FCMD) [MIM:253800]</li><li>Limb-girdle muscular dystrophy type 2M (LGMD2M) [MIM:611588]</li><li>Cardiomyopathy dilated type 1X (CMD1X) [MIM:611615]</li>	<li>rs41313301</li><li>rs34787999</li><li>rs34006675</li>	2
O75074	4037		<li>P->L at 213: in dbSNP:rs3745978</li><li>V->A at 708: in dbSNP:rs3745974</li>									<li>rs3745978</li><li>rs3745974</li>	2
O75083	9948		<li>I->V at 185: in dbSNP:rs13441</li>									rs13441	2
O75084	8324		<li>G->D at 24: in dbSNP:rs35111363</li><li>G->S at 24</li><li>G->E at 196: in dbSNP:rs34908164</li><li>A->V at 487: in dbSNP:rs35600847</li>									<li>rs35111363</li><li>rs35600847</li><li>rs34908164</li>	2
O75093	6585		<li>P->L at 824: in dbSNP:rs2817673</li>									rs2817673	2
O75094	6586		<li>A->V at 371: in dbSNP:rs891921</li><li>R->Q at 395: in dbSNP:rs2288792</li><li>G->S at 618: in dbSNP:rs10036727</li><li>R->Q at 810: in dbSNP:rs36052924</li><li>E->G at 994: in dbSNP:rs2305993</li><li>P->A at 1064: in dbSNP:rs10072243</li>									<li>rs36052924</li><li>rs2305993</li><li>rs10036727</li><li>rs10072243</li><li>rs2288792</li><li>rs891921</li>	2
O75106	314		<li>I->V at 5: in dbSNP rsrs34230945</li><li>Y->C at 22: in dbSNP rsrs34435306</li><li>P->L at 141: in dbSNP rsrs35833794</li><li>R->Q at 273: in dbSNP rsrs35508987</li><li>E->D at 427: in dbSNP rsrs34351794</li>									<li>rs34351794</li><li>rs34230945</li><li>rs35833794</li><li>rs35508987</li><li>rs34435306</li>	2
O75112	11155		<li>V->I at 55: in dbSNP:rs3740343</li><li>P->L at 101: in dbSNP:rs45592139</li><li>S->L at 189: in CMD1C: in dbSNP rsrs45487699, MIM: 601493</li><li>T->I at 206: in CMD1C, MIM: 601493</li><li>I->M at 345: in CMD1C, MIM: 601493</li><li>V->I at 635: in dbSNP:rs45618633, MIM: 601493</li><li>D->N at 673: in CMD1C: in dbSNP rsrs45514002, MIM: 601493</li>								Cardiomyopathy dilated type 1C (CMD1C) [MIM:601493]	<li>rs45592139</li><li>rs45514002</li><li>rs45618633</li><li>rs45487699</li><li>rs3740343</li>	2
O75116	9475		<li>N->T at 431: in dbSNP rsrs2230774</li><li>D->V at 601: in dbSNP rsrs35768389</li><li>S->P at 1194: in a metastatic melanoma sample; somatic mutation</li>									<li>rs2230774</li><li>rs35768389</li>	2
O75123	9831		<li>D->N at 126: in dbSNP:rs4874084</li>									rs4874084	2
O75127	26024		<li>P->L at 356: in dbSNP:rs34714513</li><li>V->G at 620: in dbSNP:rs35633728</li>									<li>rs35633728</li><li>rs34714513</li>	2
O75128	23242		<li>P->L at 526: in dbSNP:rs17656599</li><li>D->A at 577: in dbSNP:rs10230120</li><li>V->I at 607: in dbSNP:rs2240090</li><li>H->Q at 919: in dbSNP:rs2240089</li><li>D->N at 927: in dbSNP:rs17134128</li><li>A->P at 1015: in dbSNP:rs17134127</li>									<li>rs17134127</li><li>rs2240090</li><li>rs10230120</li><li>rs17134128</li><li>rs2240089</li><li>rs17656599</li>	2
O75129	23245		<li>V->I at 70: in dbSNP:rs16933591</li><li>R->H at 865: in dbSNP:rs3818503</li><li>V->I at 1149: in dbSNP:rs16933591</li><li>V->L at 1293: in a breast cancer sample; somatic mutation</li>									<li>rs16933591</li><li>rs3818503</li>	2
O75131	8895		<li>E->D at 252: in dbSNP:rs41333046</li><li>T->M at 412: in dbSNP:rs2304789</li>									<li>rs41333046</li><li>rs2304789</li>	2
O75132			<li>V->I at 420: in dbSNP:rs910799</li>									rs910799	2
O75140	9681		<li>S->T at 491: in dbSNP:rs8138516</li><li>A->V at 641: in dbSNP:rs16989528</li><li>S->F at 712: in dbSNP:rs16989535</li>									<li>rs16989535</li><li>rs16989528</li><li>rs8138516</li>	2
O75144	23308		<li>V->I at 128: in dbSNP:rs11558819</li>									rs11558819	2
O75145	8541		<li>A->S at 563: in dbSNP:rs2303053</li>									rs2303053	2
O75146	9026		<li>K->Q at 404: in dbSNP:rs7972242</li><li>K->Q at 516: in dbSNP:rs7972242</li><li>V->M at 782: in dbSNP:rs2271051</li><li>N->S at 943: in dbSNP:rs3736414</li>									<li>rs7972242</li><li>rs2271051</li><li>rs3736414</li>	2
O75151	5253		<li>T->P at 56: in dbSNP:rs34279404</li><li>S->L at 1058: in dbSNP:rs35236745</li>									<li>rs35236745</li><li>rs34279404</li>	2
O75152	9877		<li>T->N at 640: in dbSNP:rs11240604</li>									rs11240604	2
O75153	23277		<li>A->V at 633: in dbSNP:rs11078312</li>									rs11078312	2
O75157	9819		<li>A->T at 419: in dbSNP:rs879634</li>									rs879634	2
O75161	261734		<li>D->Y at 3: in SLSN4, MIM: 606996</li><li>T->M at 29: in dbSNP:rs12142270, MIM: 606996</li><li>F->L at 91: in SLSN4, MIM: 606996</li><li>R->C at 342: in NPHP4, MIM: 606966</li><li>R->W at 469: in NPHP4, MIM: 606966</li><li>A->G at 544: in dbSNP:rs12093500, MIM: 606966</li><li>E->K at 618: in dbSNP:rs571655, MIM: 606966</li><li>T->M at 627: in SLSN4, MIM: 606996</li><li>A->G at 654: in NPHP4, MIM: 606966</li><li>R->W at 735: in NPHP4, MIM: 606966</li><li>R->H at 740: does not affect interaction with RPGRIP1L; dbSNP:rs34248917, MIM: 606966</li><li>G->R at 754: in NPHP4; affects interaction with RPGRIP1L, MIM: 606966</li><li>V->I at 765, MIM: 606966</li><li>Q->R at 766: in NPHP4; with color blindness, MIM: 606966</li><li>P->R at 776: in NPHP4, MIM: 606966</li><li>H->Q at 782: in NPHP4, MIM: 606966</li><li>R->W at 848: does not affect interaction with RPGRIP1L; dbSNP:rs17472401, MIM: 606966</li><li>L->Q at 939: in dbSNP:rs1287637, MIM: 606966</li><li>Missing at 940-941, MIM: 606966</li><li>T->A at 946: in SLSN4, MIM: 606996</li><li>R->Q at 959: in dbSNP:rs12084067, MIM: 606996</li><li>R->H at 961: in NPHP4, MIM: 606966</li><li>F->S at 991: in NPHP4; dbSNP:rs28940891, MIM: 606966</li><li>A->T at 1098: in NPHP4; dbSNP:rs41280798, MIM: 606966</li><li>R->W at 1192: in NPHP4, MIM: 606966</li><li>T->M at 1225: in SLSN4, MIM: 606996</li><li>R->C at 1284: in NPHP4, MIM: 606966</li><li>Q->E at 1287: in NPHP4; with hearing loss, MIM: 606966</li>	hearing	GO:0007605					O75161	<li>Nephronophthisis type 4 (NPHP4) [MIM:606966]</li><li>Senior-Loken syndrome type 4 (SLSN4) [MIM:606996]</li>	<li>rs12142270</li><li>rs28940891</li><li>rs17472401</li><li>rs34248917</li><li>rs571655</li><li>rs1287637</li><li>rs41280798</li><li>rs12084067</li><li>rs12093500</li>	2
O75165	23317		<li>S->A at 1463: in dbSNP:rs3762672</li><li>F->C at 1487: in dbSNP:rs4405917</li><li>V->I at 1995: in dbSNP:rs10935014</li>									<li>rs4405917</li><li>rs3762672</li><li>rs10935014</li>	2
O75167	9749		<li>P->S at 165: in dbSNP:rs2073214</li><li>I->V at 449: in dbSNP:rs2295201</li>									<li>rs2073214</li><li>rs2295201</li>	2
O75173	9507		<li>T->I at 4: in dbSNP:rs17855814</li><li>D->N at 304: in dbSNP:rs17855813</li><li>M->V at 369: in dbSNP:rs17855812</li><li>P->T at 552: in dbSNP:rs17855815</li><li>T->A at 564: in dbSNP:rs17855816</li><li>R->Q at 626: in dbSNP:rs4233367</li><li>R->K at 836: in dbSNP:rs11807350</li>									<li>rs17855812</li><li>rs17855813</li><li>rs17855814</li><li>rs17855815</li><li>rs17855816</li><li>rs11807350</li><li>rs4233367</li>	2
O75177	26039		<li>A->T at 321: in dbSNP:rs36106901</li>									rs36106901	2
O75179	26057		<li>H->Y at 2560: in dbSNP:rs2306059</li>									rs2306059	2
O75185	9914		<li>G->S at 411: in dbSNP:rs2303853</li><li>M->L at 466: in dbSNP:rs247897</li><li>L->P at 907: in dbSNP:rs16973859</li>									<li>rs2303853</li><li>rs16973859</li><li>rs247897</li>	2
O75197	4041		<li>Missing at 18-20</li><li>L->LL at 20</li><li>Q->R at 89: in dbSNP:rs41494349</li><li>D->Y at 111: in OPTA1, MIM: 607634</li><li>G->R at 171: in OPTA1, MIM: 607634</li><li>G->V at 171: in HBM; also in HBM individuals with enlarged mandible and torus palatinus; impairs inhibition of Wnt signaling by Dkk-1, MIM: 601884</li><li>T->M at 173: in an individual with abnormal retinal vasculature and retinal folds, MIM: 601884</li><li>A->T at 214: in WENHY, MIM: 144750</li><li>A->V at 214: in WENHY, MIM: 144750</li><li>A->T at 242: in OPTA1, VBCH2 and WENHY, MIM: 607636</li><li>T->I at 253: in OPTA1, MIM: 607634</li><li>R->Q at 494: in OPPG, MIM: 259770</li><li>R->Q at 570: in EVR4; autosomal recessive, MIM: 601813</li><li>R->W at 570: in OPPG, MIM: 259770</li><li>V->M at 667: in dbSNP:rs4988321, MIM: 259770</li><li>R->C at 752: in EVR4; autosomal recessive, MIM: 601813</li><li>Y->H at 1168: in an individual with total retinal detachment and retinoschisis, MIM: 601813</li><li>V->L at 1204: in dbSNP:rs11607268, MIM: 601813</li><li>A->V at 1300: in dbSNP:rs3736228, MIM: 601813</li><li>A->V at 1330: in dbSNP:rs3736228, MIM: 601813</li><li>C->G at 1361: in EVR4; autosomal dominant, MIM: 601813</li><li>E->K at 1367: in EVR4; autosomal recessive: in dbSNP rsrs28939709, MIM: 601813</li><li>A->V at 1525: in dbSNP:rs1127291, MIM: 601813</li>							<li>O54908</li><li>O94907</li>	<li>Van Buchem disease type 2 (VBCH2) [MIM:607636]</li><li>Osteoporosis pseudoglioma syndrome (OPPG) [MIM:259770]</li><li>Osteopetrosis autosomal dominant type 1 (OPTA1) [MIM:607634]</li><li>Endosteal hyperostosis Worth type (WENHY) [MIM:144750]</li><li>High bone mass trait (HBM) [MIM:601884]</li><li>Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813]</li>	<li>rs1127291</li><li>rs28939709</li><li>rs41494349</li><li>rs4988321</li><li>rs3736228</li><li>rs11607268</li>	2
O75251	374291		<li>P->L at 23: in dbSNP:rs1142530</li><li>V->M at 122: in complex I deficiency and LS, MIM: 256000</li>							Q07842	Leigh syndrome (LS) [MIM:256000]	rs1142530	2
O75298	6253		<li>R->Q at 425: in dbSNP:rs35461805</li>									rs35461805	2
O75306	4720		<li>P->T at 20: in dbSNP:rs11538340</li><li>R->Q at 228: in complex I deficiency</li><li>P->A at 229: in dbSNP:rs16827493</li><li>P->Q at 229: in complex I deficiency</li><li>P->A at 352: in dbSNP:rs11576415</li><li>S->P at 413: in complex I deficiency</li>							Q07842		<li>rs11538340</li><li>rs16827493</li><li>rs11576415</li>	2
O75309	1014		<li>L->F at 191: in dbSNP:rs2271024</li><li>H->Y at 257: in dbSNP:rs2271023</li>									<li>rs2271023</li><li>rs2271024</li>	2
O75312	8882		<li>A->V at 264: in dbSNP:rs35120633</li>									rs35120633	2
O75324	8303		<li>V->I at 17: in dbSNP:rs8191328</li><li>G->S at 88: in dbSNP:rs8191329</li>									<li>rs8191328</li><li>rs8191329</li>	2
O75325	10446		<li>P->L at 7: in dbSNP:rs3789044</li><li>A->T at 19: in dbSNP:rs36012907</li><li>L->V at 518: in dbSNP:rs3747631</li><li>V->A at 659: in dbSNP:rs34771052</li><li>P->S at 692: in dbSNP:rs11588857</li>									<li>rs3747631</li><li>rs3789044</li><li>rs36012907</li><li>rs34771052</li><li>rs11588857</li>	2
O75326	8482		<li>S->T at 115: in dbSNP:rs16968733</li><li>R->Q at 207: in dbSNP rsrs55637216</li><li>R->W at 207: in dbSNP rsrs56367230</li><li>R->H at 460: in dbSNP rsrs56204206</li><li>R->C at 461: in dbSNP rsrs56001514</li>									<li>rs56204206</li><li>rs56367230</li><li>rs55637216</li><li>rs16968733</li><li>rs56001514</li>	2
O75330	3161		<li>R->C at 92: in dbSNP:rs299284</li><li>N->K at 305: in dbSNP:rs2303077</li><li>R->H at 332: in dbSNP:rs2303078</li><li>V->A at 368: in dbSNP:rs299290</li><li>A->V at 484: in dbSNP:rs299295</li>									<li>rs2303078</li><li>rs2303077</li><li>rs299295</li><li>rs299284</li><li>rs299290</li>	2
O75333	347853		<li>K->T at 101: in dbSNP:rs3758938</li><li>Q->H at 160: in dbSNP:rs11227873</li>									<li>rs11227873</li><li>rs3758938</li>	2
O75339	8483		<li>W->L at 59: in dbSNP:rs2585033</li><li>S->F at 327</li><li>I->T at 395: common polymorphism; LDD susceptibility; increases binding and inhibition of TGFB1; dbSNP:rs2073711</li><li>E->K at 575: in dbSNP:rs2679118</li><li>A->V at 895</li><li>R->Q at 979: in dbSNP:rs2679117</li><li>D->N at 1101</li><li>S->G at 1166: in dbSNP:rs938952</li><li>V->A at 1168</li>			binding	GO:0005488			<li>P54831</li><li>P09533</li><li>P18341</li><li>P50414</li><li>O19011</li><li>P09531</li><li>P07200</li><li>Q9Z1Y6</li><li>Q9PTQ2</li><li>O93449</li><li>P01137</li><li>Q38HS2</li>		<li>rs2585033</li><li>rs2679118</li><li>rs2679117</li><li>rs2073711</li><li>rs938952</li>	2
O75342	242		<li>G->S at 94: in dbSNP:rs8077661</li><li>L->P at 426: in NCIE, MIM: 242100</li><li>H->Q at 578: in NCIE, MIM: 242100</li>								Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]	rs8077661	2
O75343			<li>Y->C at 55: in dbSNP:rs9568497</li><li>M->I at 128: in dbSNP:rs11841997</li><li>N->H at 316: in dbSNP:rs1328361</li>									<li>rs9568497</li><li>rs11841997</li><li>rs1328361</li>	2
O75352	9526		<li>G->E at 73: in CDG1F, MIM: 609180</li><li>L->S at 74: in CDG1F, MIM: 609180</li><li>L->P at 119: in CDG1F, MIM: 609180</li><li>G->S at 225: in dbSNP:rs16956808, MIM: 609180</li><li>A->T at 229: in dbSNP:rs10852891, MIM: 609180</li>								Congenital disorder of glycosylation type 1F (CDG1F) [MIM:609180]	<li>rs16956808</li><li>rs10852891</li>	2
O75354	955		<li>S->N at 14: in dbSNP:rs2076559</li><li>L->V at 138: in dbSNP:rs1044567</li><li>R->Q at 157: in dbSNP:rs34007133</li><li>E->K at 202: in dbSNP:rs6050446</li><li>S->N at 323: in dbSNP:rs6138541</li>									<li>rs34007133</li><li>rs6138541</li><li>rs1044567</li><li>rs2076559</li><li>rs6050446</li>	2
O75356	957		<li>K->R at 314: in dbSNP:rs17094434</li>									rs17094434	2
O75360	5626		<li>S->N at 20: in dbSNP:rs7445271</li><li>R->C at 73: in CPHD; familial, MIM: 601538</li><li>R->H at 73: in CPHD; familial, MIM: 601538</li><li>F->I at 117: in CPHD; familial, MIM: 601538</li><li>R->C at 120: in CPHD; familial, MIM: 601538</li><li>R->W at 125: in CPHD, MIM: 601538</li><li>A->T at 142: in dbSNP:rs1800197, MIM: 601538</li>								Combined pituitary hormone deficiency (CPHD) [MIM:601538, 262600]	<li>rs1800197</li><li>rs7445271</li>	2
O75362	7764		<li>D->N at 323: in a colorectal cancer sample; somatic mutation</li><li>V->I at 739: in dbSNP:rs6063966</li>									rs6063966	2
O75363	8537		<li>Q->K at 24: in dbSNP:rs394732</li><li>V->A at 163: in dbSNP:rs158551</li><li>G->E at 255: in dbSNP:rs6022903</li><li>Q->H at 472: in dbSNP:rs35575210</li><li>S->P at 583: in dbSNP:rs1055246</li>									<li>rs158551</li><li>rs1055246</li><li>rs394732</li><li>rs6022903</li><li>rs35575210</li>	2
O75364	5309		<li>S->N at 13: in ADCC, MIM: 602669</li>	ADCC	GO:0001788						Autosomal dominant congenital cataract (ADCC) [MIM:602669]		2
O75369	2317		<li>F->C at 161: in LRS1, MIM: 150250</li><li>G->S at 168: in LRS1, MIM: 150250</li><li>L->R at 171: in boomerang dysplasia, MIM: 112310</li><li>A->V at 173: in AO1: in dbSNP rsrs28937586, MIM: 108720</li><li>S->P at 188: in AO1, MIM: 108720</li><li>M->V at 202: in AO1 and AO3: in dbSNP rsrs28939707, MIM: 108721</li><li>E->K at 227: in LRS1, MIM: 150250</li><li>L->V at 234: in LRS1, MIM: 150250</li><li>S->P at 235: in boomerang dysplasia, MIM: 112310</li><li>G->S at 361: in LRS1, MIM: 150250</li><li>G->E at 363: in LRS1, MIM: 150250</li><li>R->Q at 566: in a breast cancer sample; somatic mutation, MIM: 150250</li><li>N->K at 663: in a breast cancer sample; somatic mutation, MIM: 150250</li><li>T->K at 703: in a breast cancer sample; somatic mutation, MIM: 150250</li><li>G->R at 751: in AO3: in dbSNP rsrs28937587, MIM: 108721</li><li>V->M at 1018: in dbSNP:rs2276742, MIM: 108721</li><li>N->D at 1157: in dbSNP:rs1131356, MIM: 108721</li><li>E->K at 1179: in dbSNP:rs17058845, MIM: 108721</li><li>L->R at 1431: in LRS1, MIM: 150250</li><li>M->V at 1471: in dbSNP:rs12632456, MIM: 150250</li><li>A->G at 1534: in a breast cancer sample; somatic mutation, MIM: 150250</li><li>Missing  at 1571: in LRS1, MIM: 150250</li><li>G->R at 1586: in LRS1: in dbSNP rsrs28939706, MIM: 150250</li><li>V->D at 1592: in LRS1, MIM: 150250</li><li>P->L at 1603: in LRS1, MIM: 150250</li><li>G->S at 1691: in LRS1, MIM: 150250</li><li>G->R at 1834: in LRS1, MIM: 150250</li>							<li>Q7G192</li><li>Q7G193</li>	<li>Atelosteogenesis type 1 (AO1) [MIM:108720]</li><li>Atelosteogenesis type 3 (AO3) [MIM:108721]</li><li>Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]</li><li>Boomerang dysplasia [MIM:112310]</li>	<li>rs17058845</li><li>rs12632456</li><li>rs2276742</li><li>rs28939706</li><li>rs28937587</li><li>rs1131356</li><li>rs28937586</li><li>rs28939707</li>	2
O75381	5195		<li>A->S at 117: in dbSNP:rs12061667</li><li>A->S at 150: in dbSNP:rs11539793</li><li>R->K at 320: in dbSNP:rs12070353</li>									<li>rs12070353</li><li>rs11539793</li><li>rs12061667</li>	2
O75382	10612		<li>L->R at 298: in dbSNP:rs10128723</li>									rs10128723	2
O75385	8408		<li>V->M at 290: in an ovarian mucinous carcinoma sample; somatic mutation</li><li>S->L at 298: in dbSNP:rs56364352</li><li>P->L at 478: in dbSNP:rs12827141</li><li>T->M at 503: in dbSNP:rs55824543</li><li>S->L at 665: in dbSNP:rs55815560</li><li>P->L at 714: in dbSNP:rs11546871</li><li>S->C at 784: in a lung adenocarcinoma sample; somatic mutation</li><li>A->T at 816: in dbSNP:rs11609348</li>									<li>rs55824543</li><li>rs12827141</li><li>rs11546871</li><li>rs11609348</li><li>rs55815560</li><li>rs56364352</li>	2
O75387	8501		<li>G->V at 238: in dbSNP:rs17151933</li><li>H->Y at 443: in dbSNP:rs34746107</li>									<li>rs34746107</li><li>rs17151933</li>	2
O75388	2854		<li>F->L at 327: in dbSNP:rs1864011</li>									rs1864011	2
O75409	25763		<li>V->I at 68: in dbSNP:rs6651635</li>									rs6651635	2
O75410	6867		<li>P->L at 187: in dbSNP:rs34235313</li><li>I->T at 243: in dbSNP:rs6980553</li><li>E->G at 255: in dbSNP:rs10107016</li>									<li>rs10107016</li><li>rs34235313</li><li>rs6980553</li>	2
O75419	8318		<li>V->I at 81: in dbSNP:rs13447203</li><li>M->R at 356: in dbSNP:rs17209274</li><li>V->M at 376: in dbSNP:rs13447263</li>									<li>rs13447263</li><li>rs17209274</li><li>rs13447203</li>	2
O75426	26261		<li>R->H at 302: in dbSNP:rs7801492</li>									rs7801492	2
O75427	4034		<li>V->M at 642: in dbSNP:rs3197597</li>									rs3197597	2
O75437	9534		<li>D->G at 93: in dbSNP:rs17854260</li><li>A->T at 386: in dbSNP:rs403356</li><li>T->A at 457: in dbSNP:rs2925930</li><li>V->I at 594: in dbSNP:rs2446056</li>									<li>rs2446056</li><li>rs403356</li><li>rs2925930</li><li>rs17854260</li>	2
O75439	9512		<li>E->D at 396: in dbSNP:rs3087615</li>									rs3087615	2
O75443			<li>R->H at 284: in a breast cancer sample; somatic mutation</li><li>R->G at 371: in dbSNP:rs612969</li><li>I->N at 771: in a breast cancer sample; somatic mutation</li><li>N->T at 813: in a breast cancer sample; somatic mutation</li><li>V->A at 932: in dbSNP:rs520805</li><li>C->S at 1057: in DFNA12; progressive deafness with late onset, MIM: 601543</li><li>C->S at 1619: in DFNA12, MIM: 601543</li><li>N->S at 1724: in dbSNP:rs526433, MIM: 601543</li><li>L->F at 1820: in DFNA12; prelingual and stable deafness, MIM: 601543</li><li>G->D at 1824: in DFNA12; prelingual and stable deafness, MIM: 601543</li><li>C->G at 1837: in a family with autosomal dominant deafness; postlingual and progressive; phenotype different from DFNA8/DFNA12, MIM: 601543</li><li>Y->C at 1870: in DFNA8; prelingual and stable deafness, MIM: 601543</li><li>R->H at 2021: in a family with autosomal dominant deafness, MIM: 601543</li><li>S->T at 2100, MIM: 601543</li>								Non-syndromic sensorineural deafness autosomal dominant type 12 (DFNA12) [MIM:601543]	<li>rs612969</li><li>rs526433</li><li>rs520805</li>	2
O75444	4094		<li>R->P at 288: in juvenile-onset pulverulent cataract, MIM: 610202</li><li>K->R at 297: in CCA4, MIM: 610202</li>								<li>Juvenile-onset pulverulent cataract [MIM:610202]</li><li>Congenital cerulean cataract 4 (CCA4) [MIM:610202]</li>		2
O75445	7399		<li>A->T at 125: in dbSNP:rs10779261</li><li>C->Y at 163: in USH2A, MIM: 276901</li><li>V->E at 218: in USH2A, MIM: 276901</li><li>V->M at 230: in USH2A; may be a common polymorphism; dbSNP:rs45500891, MIM: 276901</li><li>G->R at 268: in USH2A; uncertain pathogenicity, MIM: 276901</li><li>L->F at 280: in USH2A, MIM: 276901</li><li>E->K at 284: in USH2A, MIM: 276901</li><li>R->C at 303: in USH2A, MIM: 276901</li><li>R->S at 303: in USH2A, MIM: 276901</li><li>S->I at 307: in USH2A; uncertain pathogenicity, MIM: 276901</li><li>C->Y at 319: in USH2A, MIM: 276901</li><li>R->Q at 334: in USH2A, MIM: 276901</li><li>R->W at 334: in USH2A, MIM: 276901</li><li>N->H at 346: in USH2A, MIM: 276901</li><li>T->I at 352: in USH2A, MIM: 276901</li><li>N->T at 357: in USH2A, MIM: 276901</li><li>L->F at 365, MIM: 276901</li><li>S->I at 391: in USH2A; uncertain pathogenicity, MIM: 276901</li><li>C->F at 419: in USH2A, MIM: 276901</li><li>R->C at 464: in USH2A; uncertain pathogenicity, MIM: 276901</li><li>E->D at 478: in RP39 and USH2A; uncertain pathogenicity; dbSNP:rs35730265, MIM: 276901</li><li>F->S at 479, MIM: 276901</li><li>G->V at 516: in USH2A; uncertain pathogenicity, MIM: 276901</li><li>R->T at 517: in USH2A; uncertain pathogenicity, MIM: 276901</li><li>C->R at 536: in USH2A; abolishes interaction with collagen IV, MIM: 276901</li><li>L->V at 555: in USH2A; dbSNP:rs35818432, MIM: 276901</li><li>C->S at 575: in USH2A; uncertain pathogenicity, MIM: 276901</li><li>Missing  at 587: in USH2A; uncertain pathogenicity, MIM: 276901</li><li>F->S at 595, MIM: 276901</li><li>H->P at 610: in USH2A, MIM: 276901</li><li>D->V at 644: in dbSNP:rs1805048, MIM: 276901</li><li>D->E at 703, MIM: 276901</li><li>G->R at 713: in USH2A; abolishes interaction with collagen IV; uncertain pathogenicity; dbSNP:rs696723, MIM: 276901</li><li>F->L at 739: in RP39; uncertain pathogenicity, MIM: 268000</li><li>C->F at 759: in RP39 and USH2A, MIM: 276901</li><li>P->R at 761: in USH2A, MIM: 276901</li><li>S->Y at 841, MIM: 276901</li><li>T->N at 911: in RP39; uncertain pathogenicity, MIM: 268000</li><li>L->V at 1047, MIM: 268000</li><li>P->L at 1059: in USH2A; uncertain pathogenicity, MIM: 276901</li><li>P->L at 1212: in USH2A, MIM: 276901</li><li>S->P at 1349, MIM: 276901</li><li>L->R at 1470: in RP39; uncertain pathogenicity, MIM: 268000</li><li>R->K at 1486: in dbSNP:rs1805049, MIM: 268000</li><li>T->M at 1515: in USH2A, MIM: 276901</li><li>L->F at 1572, MIM: 276901</li><li>I->T at 1665: in dbSNP rsrs56222536, MIM: 276901</li><li>Y->C at 1757, MIM: 276901</li><li>V->E at 1833: in USH2A, MIM: 276901</li><li>K->N at 2080, MIM: 276901</li><li>T->N at 2086, MIM: 276901</li><li>I->T at 2106: in dbSNP:rs6657250, MIM: 276901</li><li>I->T at 2169: in dbSNP:rs10864219, MIM: 276901</li><li>E->A at 2238: in dbSNP rsrs41277212, MIM: 276901</li><li>A->D at 2249: in USH2A, MIM: 276901</li><li>EY->D at 2265-2266: in USH2A, MIM: 276901</li><li>R->H at 2292: in dbSNP rsrs41277210, MIM: 276901</li><li>R->H at 2354: in USH2A, MIM: 276901</li><li>V->A at 2562: in dbSNP rsrs56385601, MIM: 276901</li><li>A->S at 2795: in USH2A, MIM: 276901</li><li>R->Q at 2875: in dbSNP:rs12118814, MIM: 276901</li><li>L->F at 2886: in dbSNP rsrs41277200, MIM: 276901</li><li>E->K at 3088: in dbSNP rsrs56056328, MIM: 276901</li><li>N->S at 3099: in dbSNP rsrs41277194, MIM: 276901</li><li>T->A at 3115: in dbSNP rsrs56032526, MIM: 276901</li><li>R->G at 3124: in USH2A; uncertain pathogenicity, MIM: 276901</li><li>D->N at 3144: in dbSNP:rs11120645, MIM: 276901</li><li>N->D at 3199: in dbSNP:rs4129843, MIM: 276901</li><li>C->R at 3251: in USH2A, MIM: 276901</li><li>C->R at 3267: in USH2A, MIM: 276901</li><li>C->R at 3282: in USH2A, MIM: 276901</li><li>I->M at 3335, MIM: 276901</li><li>E->A at 3411: in dbSNP:rs10864198, MIM: 276901</li><li>Y->YY at 3472: in USH2A, MIM: 276901</li><li>P->T at 3504: in USH2A, MIM: 276901</li><li>W->R at 3521: in USH2A, MIM: 276901</li><li>T->M at 3571: in USH2A, MIM: 276901</li><li>P->L at 3590, MIM: 276901</li><li>T->I at 3835: in dbSNP:rs11120616, MIM: 276901</li><li>M->V at 3868: in dbSNP rsrs35309576, MIM: 276901</li><li>P->T at 3893: in dbSNP rsrs41303285, MIM: 276901</li><li>G->E at 3895: in USH2A, MIM: 276901</li><li>T->M at 3976: in USH2A, MIM: 276901</li><li>S->I at 4054: in USH2A, MIM: 276901</li><li>R->C at 4115: in USH2A; uncertain pathogenicity, MIM: 276901</li><li>P->R at 4232: in USH2A, MIM: 276901</li><li>T->M at 4337: in USH2A, MIM: 276901</li><li>T->M at 4425: in USH2A, MIM: 276901</li><li>V->L at 4433, MIM: 276901</li><li>T->I at 4439: in USH2A, MIM: 276901</li><li>Y->C at 4487: in USH2A, MIM: 276901</li><li>Q->H at 4592: in USH2A, MIM: 276901</li><li>F->V at 4624, MIM: 276901</li><li>R->G at 4674: in RP39, MIM: 268000</li><li>R->K at 4739: in dbSNP:rs12085354, MIM: 268000</li><li>L->R at 4795: in USH2A, MIM: 276901</li><li>P->L at 4818: in USH2A, MIM: 276901</li><li>R->W at 5031: in dbSNP rsrs56038610, MIM: 276901</li>					collagen	GO:0005581	<li>Q3E757</li><li>P0C0W9</li><li>O75445</li>	<li>Usher syndrome type 2A (USH2A) [MIM:276901]</li><li>Retinitis pigmentosa type 39 (RP39) [MIM:268000]</li>	<li>rs6657250</li><li>rs35309576</li><li>rs56056328</li><li>rs11120616</li><li>rs56222536</li><li>rs4129843</li><li>rs12085354</li><li>rs41277210</li><li>rs1805048</li><li>rs11120645</li><li>rs41277212</li><li>rs41303285</li><li>rs35818432</li><li>rs1805049</li><li>rs12118814</li><li>rs56385601</li><li>rs696723</li><li>rs45500891</li><li>rs41277200</li><li>rs10779261</li><li>rs56038610</li><li>rs41277194</li><li>rs10864219</li><li>rs35730265</li><li>rs10864198</li><li>rs56032526</li>	2
O75448	9862		<li>A->T at 204: in dbSNP:rs34585432</li>									rs34585432	2
O75459	8712		<li>L->P at 75: in dbSNP:rs1055197</li>									rs1055197	2
O75462	9244		<li>W->G at 76: in Crisponi syndrome, MIM: 601378</li><li>R->H at 81: in CISS1, MIM: 272430</li><li>R->K at 176: in dbSNP:rs11672248, MIM: 272430</li><li>L->R at 374: in CISS1, MIM: 272430</li>								<li>Crisponi syndrome [MIM:601378]</li><li>Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]</li>	rs11672248	2
O75469	8856		<li>A->T at 12: in dbSNP:rs1063955</li><li>E->K at 18: in dbSNP rsrs59371185</li><li>P->S at 27: in allele PXR*2; dbSNP:rs12721613</li><li>G->R at 36: in allele PXR*3</li><li>R->C at 98</li><li>R->Q at 122: in allele PXR*4; rare polymorphism: in dbSNP rsrs12721608</li><li>R->Q at 148</li><li>A->T at 370: in dbSNP:rs35761343</li><li>R->W at 381</li><li>I->V at 403</li>							<li>Q8SQ01</li><li>O75469</li>		<li>rs1063955</li><li>rs12721608</li><li>rs12721613</li><li>rs35761343</li><li>rs59371185</li>	2
O75473	8549		<li>H->R at 383: in dbSNP:rs12303775</li><li>V->A at 666: in dbSNP:rs17109924</li>									<li>rs17109924</li><li>rs12303775</li>	2
O75478	6871		<li>S->P at 6: in dbSNP:rs7211875</li><li>M->V at 115: in dbSNP:rs1054865</li><li>I->M at 351: in dbSNP:rs2522969</li>									<li>rs7211875</li><li>rs1054865</li><li>rs2522969</li>	2
O75487	2239		<li>E->D at 391: in dbSNP:rs1129980</li><li>A->V at 442: in dbSNP:rs1048369</li>									<li>rs1129980</li><li>rs1048369</li>	2
O75489	4722		<li>P->Q at 249: in dbSNP:rs9600</li>									rs9600	2
O75496	51053		<li>N->H at 15: in dbSNP:rs34891389</li><li>N->T at 18: in dbSNP:rs1923185</li><li>L->F at 48: in dbSNP:rs2307307</li><li>R->W at 54: in dbSNP:rs2307306</li><li>S->P at 60: in dbSNP:rs2307302</li><li>T->M at 203: in dbSNP:rs2307303</li>									<li>rs34891389</li><li>rs2307302</li><li>rs1923185</li><li>rs2307303</li><li>rs2307307</li><li>rs2307306</li>	2
O75503	1203		<li>R->H at 63: in CLN5, MIM: 256731</li><li>R->P at 63: in CLN5, MIM: 256731</li><li>Y->D at 209: in CLN5, MIM: 256731</li><li>D->N at 230: in CLN5, MIM: 256731</li><li>K->R at 319: in dbSNP:rs1800209, MIM: 256731</li>							O75503	Ceroid lipofuscinosis neuronal 5 (CLN5) [MIM:256731]	rs1800209	2
O75554	11193		<li>K->R at 113: in a breast cancer sample; somatic mutation</li>										2
O75558	8676		<li>E->Q at 31: in dbSNP:rs1802414</li><li>R->Q at 49: in dbSNP:rs17073498</li><li>L->H at 204: in dbSNP:rs1133248</li><li>T->A at 277: in dbSNP:rs9496891</li>									<li>rs1802414</li><li>rs9496891</li><li>rs1133248</li><li>rs17073498</li>	2
O75563	8935		<li>A->S at 202: in dbSNP:rs1129771</li><li>S->T at 253: in dbSNP:rs17154402</li>									<li>rs17154402</li><li>rs1129771</li>	2
O75569	8575		<li>P->L at 222: in DYT16, MIM: 612067</li>								Dystonia type 16 (DYT16) [MIM:612067]		2
O75570	9617		<li>N->S at 2: in dbSNP:rs9532758</li><li>L->V at 324: in dbSNP:rs9566725</li><li>I->V at 407: in dbSNP:rs9315812</li>									<li>rs9566725</li><li>rs9315812</li><li>rs9532758</li>	2
O75578	8515		<li>R->Q at 381: in dbSNP:rs6665210</li><li>R->W at 668: in dbSNP:rs36073645</li><li>R->H at 691: in dbSNP:rs2274618</li><li>A->T at 702: in dbSNP:rs35515885</li><li>R->Q at 725: in dbSNP:rs2274616</li>									<li>rs6665210</li><li>rs35515885</li><li>rs2274618</li><li>rs2274616</li><li>rs36073645</li>	2
O75581	4040		<li>V->I at 483: in dbSNP:rs7975614</li><li>R->C at 611: in ADCAD2; impairs Wnt signaling in vitro, MIM: 610947</li><li>S->C at 817: in dbSNP:rs2302686, MIM: 610947</li><li>I->V at 1062: in dbSNP:rs2302685, MIM: 610947</li><li>R->H at 1401: in dbSNP:rs34815107, MIM: 610947</li>								Autosomal dominant coronary artery disease type 2 (ADCAD2) [MIM:610947]	<li>rs34815107</li><li>rs2302685</li><li>rs2302686</li><li>rs7975614</li>	2
O75592	23077		<li>A->S at 1881: in dbSNP:rs35887505</li><li>V->M at 2588: in dbSNP:rs9574002</li>									<li>rs35887505</li><li>rs9574002</li>	2
O75594	8993		<li>V->G at 34: in dbSNP:rs34180629</li>									rs34180629	2
O75596	10143		<li>Q->K at 197: in dbSNP:rs2072663</li>									rs2072663	2
O75600	23464		<li>R->C at 39: in dbSNP:rs710187</li><li>S->N at 100: in dbSNP:rs34468367</li>									<li>rs710187</li><li>rs34468367</li>	2
O75602	9576		<li>V->L at 106: in a breast cancer sample; somatic mutation</li><li>Q->R at 216: in dbSNP:rs7074847</li>									rs7074847	2
O75603	9247		<li>D->N at 53: in dbSNP:rs11963186</li><li>A->V at 117: in dbSNP:rs35786951</li><li>G->S at 203: in dbSNP:rs7744163</li><li>I->V at 227: in dbSNP:rs35395043</li>									<li>rs7744163</li><li>rs11963186</li><li>rs35395043</li><li>rs35786951</li>	2
O75604	9099		<li>R->Q at 174: in dbSNP:rs33929148</li><li>N->S at 383: in dbSNP:rs45533837</li>									<li>rs33929148</li><li>rs45533837</li>	2
O75607	10360		<li>S->N at 16: in dbSNP:rs34376117</li><li>N->I at 80: in dbSNP:rs2735420</li>									<li>rs2735420</li><li>rs34376117</li>	2
O75610	10637		<li>V->M at 57: in dbSNP:rs35273824</li><li>D->A at 322: in dbSNP:rs360057</li>									<li>rs35273824</li><li>rs360057</li>	2
O75626	639		<li>G->S at 38: in dbSNP:rs2185379</li><li>D->E at 167: in dbSNP:rs811925</li>									<li>rs2185379</li><li>rs811925</li>	2
O75631	7380		<li>Q->L at 91: in dbSNP:rs6006979</li><li>A->P at 154: in dbSNP:rs1057353</li><li>G->D at 202: in renal adysplasia, MIM: 191830</li><li>P->L at 273: in renal adysplasia; with severe vesicoureteric reflux; normal targeting to the cell surface, MIM: 191830</li>					cell surface	GO:0009928,GO:0009986		Renal adysplasia [MIM:191830]	<li>rs6006979</li><li>rs1057353</li>	2
O75635	8710		<li>R->Q at 266: in dbSNP:rs17782413</li>									rs17782413	2
O75638			<li>R->Q at 6</li><li>E->Q at 89</li><li>W->R at 138</li>										2
O75643	23020		<li>F->L at 1736: in a colorectal cancer sample; somatic mutation</li>										2
O75665	8481		<li>S->F at 74: in OFD I, MIM: 311200</li><li>A->T at 79: in OFD I, MIM: 311200</li><li>KDD->FSY at 358-360: in OFD I, MIM: 311200</li><li>S->R at 435: in OFD I, MIM: 311200</li>								Oral-facial-digital syndrome type I (OFD I) [MIM:311200]		2
O75674	10040		<li>R->S at 108: in dbSNP:rs16955377</li>									rs16955377	2
O75676	8986		<li>S->L at 236: in a breast infiltrating ductal carcinoma sample; somatic mutation</li><li>S->A at 758: in dbSNP rsrs17857342</li>									rs17857342	2
O75677	5988		<li>W->R at 94: in dbSNP:rs16987627</li><li>M->T at 127: in dbSNP:rs3804076</li><li>Missing  at 139: in RFPL1S</li>									<li>rs3804076</li><li>rs16987627</li>	2
O75679	10738		<li>M->T at 83: in dbSNP:rs16987625</li><li>L->M at 110: in dbSNP:rs9621427</li><li>D->N at 126: in dbSNP:rs9619258</li>									<li>rs16987625</li><li>rs9621427</li><li>rs9619258</li>	2
O75683	6838		<li>R->W at 163: in dbSNP:rs886090</li><li>T->M at 175: in dbSNP:rs886089</li><li>R->Q at 193: in dbSNP:rs34657219</li><li>N->H at 201: in dbSNP:rs35316446</li><li>T->M at 311: in dbSNP:rs1800867</li>									<li>rs886089</li><li>rs1800867</li><li>rs34657219</li><li>rs886090</li><li>rs35316446</li>	2
O75691	27340		<li>M->T at 120: in dbSNP:rs2290723</li><li>S->C at 502: in dbSNP:rs4764643</li><li>K->I at 1645: in a breast cancer sample; somatic mutation</li><li>Q->L at 1882: in dbSNP:rs10082778</li><li>I->F at 2452: in a breast cancer sample; somatic mutation</li><li>E->Q at 2612: in dbSNP:rs1061436</li>									<li>rs10082778</li><li>rs4764643</li><li>rs1061436</li><li>rs2290723</li>	2
O75711	11341		<li>P->L at 42: in dbSNP:rs2306465</li>									rs2306465	2
O75712	2707		<li>G->D at 12: in EKV, MIM: 133200</li><li>G->R at 12: in EKV, MIM: 133200</li><li>R->W at 32: in dbSNP:rs1805063, MIM: 133200</li><li>R->P at 42: in EKV, MIM: 133200</li><li>C->S at 86: in EKV, MIM: 133200</li><li>F->L at 137: in EKV, MIM: 133200</li><li>I->V at 141: in DFNA2, MIM: 600101</li><li>E->K at 183: in DFNA2, MIM: 600101</li><li>V->I at 200, MIM: 600101</li>								<li>Erythrokeratodermia variabilis (EKV) [MIM:133200]</li><li>Non-syndromic sensorineural deafness autosomal dominant type 2 (DFNA2) [MIM:600101]</li>	rs1805063	2
O75715	2880		<li>L->V at 85: in dbSNP:rs769188</li>									rs769188	2
O75717	11169		<li>F->L at 338: in dbSNP:rs8020032</li><li>L->P at 411: in dbSNP:rs17128116</li>									<li>rs17128116</li><li>rs8020032</li>	2
O75718	10491		<li>L->P at 67: in OI; recessive form</li><li>E->D at 137: in dbSNP:rs17850371</li><li>L->V at 261: in dbSNP:rs1135127</li>									<li>rs17850371</li><li>rs1135127</li>	2
O75746	8604		<li>R->Q at 473: in dbSNP:rs35565687</li>									rs35565687	2
O75751	6581		<li>T->M at 44: in dbSNP:rs8187715</li><li>A->S at 116: in dbSNP:rs8187717</li>									<li>rs8187715</li><li>rs8187717</li>	2
O75752	8706		<li>D->N at 126: in dbSNP:rs2231257</li><li>E->A at 266: in an French with P2: in dbSNP rsrs28937582</li><li>G->R at 271: in an English with P1</li>									<li>rs2231257</li><li>rs28937582</li>	2
O75762			<li>R->C at 3: in dbSNP:rs13268757</li><li>R->T at 58: in dbSNP:rs16937976</li><li>E->K at 179: in dbSNP:rs920829</li><li>N->K at 186: in dbSNP:rs7819749</li><li>H->R at 1018: in dbSNP:rs959976</li>									<li>rs13268757</li><li>rs16937976</li><li>rs959976</li><li>rs920829</li><li>rs7819749</li>	2
O75771	5892		<li>R->S at 24: in dbSNP rsrs28363257</li><li>R->Q at 165: in dbSNP rsrs4796033</li><li>A->T at 225: in dbSNP rsrs28363282</li><li>R->Q at 232: in dbSNP rsrs28363283</li><li>E->G at 233: in dbSNP rsrs28363284</li>									<li>rs4796033</li><li>rs28363257</li><li>rs28363282</li><li>rs28363284</li><li>rs28363283</li>	2
O75781	5064		<li>T->A at 107: in dbSNP:rs1050457</li>									rs1050457	2
O75787	10159		<li>P->A at 90: in dbSNP:rs9014</li><li>A->P at 290: in dbSNP:rs35798522</li>									<li>rs35798522</li><li>rs9014</li>	2
O75791	9402		<li>L->F at 319: in dbSNP:rs12759</li>									rs12759	2
O75792	10535		<li>G->S at 37: in AGS4; strongly impairs enzyme activity but not interation with RNASEH2B and RNASEH2C, MIM: 610333</li><li>L->S at 202: in dbSNP:rs7247284, MIM: 610333</li><li>A->G at 258: in dbSNP:rs15389, MIM: 610333</li>							<li>Q9Y4H4</li><li>Q8TDP1</li><li>Q3ZBI3</li><li>Q2M2U4</li><li>O75792</li><li>Q5TBB1</li>	Aicardi-Goutieres syndrome type 4 (AGS4) [MIM:610333]	<li>rs7247284</li><li>rs15389</li>	2
O75800	51364		<li>R->Q at 407: in NSCLC</li>										2
O75815	8412		<li>E->G at 464: in dbSNP:rs12062278</li><li>Q->H at 593: in dbSNP:rs17110107</li>									<li>rs12062278</li><li>rs17110107</li>	2
O75820	7743		<li>R->K at 221: in dbSNP:rs10989492</li>									rs10989492	2
O75822	8669		<li>A->T at 141: in dbSNP:rs2303578</li>									rs2303578	2
O75828	874		<li>C->Y at 4: in dbSNP:rs8133052</li><li>L->V at 84: in dbSNP:rs9282628</li><li>V->I at 93: in dbSNP:rs2835285</li><li>P->S at 131: in dbSNP:rs16993929</li><li>M->L at 235: in dbSNP:rs4987121</li><li>V->M at 244: in dbSNP:rs1056892</li>									<li>rs16993929</li><li>rs2835285</li><li>rs4987121</li><li>rs9282628</li><li>rs8133052</li><li>rs1056892</li>	2
O75829	11061		<li>F->L at 116: in dbSNP:rs3742298</li><li>V->I at 175: in dbSNP:rs7330220</li>									<li>rs3742298</li><li>rs7330220</li>	2
O75830	5276		<li>L->V at 6: in dbSNP:rs17246389</li><li>E->G at 148: in dbSNP:rs9841174</li>									<li>rs17246389</li><li>rs9841174</li>	2
O75841	7348		<li>R->Q at 113: in dbSNP:rs9840317</li>									rs9840317	2
O75844	10269		<li>T->A at 137: in dbSNP:rs17853725</li><li>W->R at 340: in MADB, MIM: 608612</li>								Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612]	rs17853725	2
O75845	6309		<li>R->Q at 29: in lathosterolosis, MIM: 607330</li><li>Y->S at 46: in lathosterolosis, MIM: 607330</li><li>G->D at 211: in lathosterolosis, MIM: 607330</li>								Lathosterolosis [MIM:607330]		2
O75871	1089		<li>H->D at 29: in dbSNP:rs1126454</li><li>K->R at 69: in dbSNP:rs3848568</li>									<li>rs3848568</li><li>rs1126454</li>	2
O75874	3417		<li>R->C at 132: in a colorectal cancer sample; somatic mutation</li><li>V->I at 178: in dbSNP:rs34218846</li>									rs34218846	2
O75879	5188		<li>A->D at 30: in dbSNP:rs11556167</li>									rs11556167	2
O75880	6341		<li>P->S at 58: in dbSNP:rs1802083</li><li>P->L at 174: in COX deficiency, MIM: 220110</li>							<li>P36552</li><li>P36551</li><li>Q9UTE2</li><li>Q9V3D2</li><li>P11353</li>	Cytochrome c oxidase deficiency (COX deficiency) [MIM:220110]	rs1802083	2
O75881	9420		<li>G->R at 57: in SPG5A, MIM: 270800</li><li>F->S at 216: in SPG5A, MIM: 270800</li><li>S->F at 363: in SPG5A, MIM: 270800</li><li>R->H at 417: in SPG5A, MIM: 270800</li>								Spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800]		2
O75882	8455		<li>D->A at 303: in dbSNP:rs6107308</li><li>I->T at 426: in dbSNP:rs17782078</li><li>R->K at 1152: in dbSNP:rs3886999</li><li>V->I at 1226: in dbSNP:rs12329487</li>									<li>rs3886999</li><li>rs6107308</li><li>rs17782078</li><li>rs12329487</li>	2
O75891	10840		<li>L->P at 254: in dbSNP:rs3796191</li><li>V->F at 330: in dbSNP:rs2886059</li><li>E->A at 429: in dbSNP:rs9282691</li><li>A->T at 436: in dbSNP:rs9282692</li><li>A->V at 436: in dbSNP:rs9282693</li><li>S->N at 448: in dbSNP:rs9282697</li><li>S->G at 481: in dbSNP:rs2276724</li><li>A->V at 511: in a colorectal cancer sample; somatic mutation</li><li>D->G at 793: in dbSNP:rs1127717</li><li>E->K at 803: in dbSNP:rs9282689</li><li>I->V at 812: in dbSNP:rs4646750</li>									<li>rs9282691</li><li>rs9282692</li><li>rs2886059</li><li>rs3796191</li><li>rs9282693</li><li>rs9282689</li><li>rs1127717</li><li>rs9282697</li><li>rs4646750</li><li>rs2276724</li>	2
O75897	27233		<li>D->E at 5: in dbSNP:rs1402467</li>									rs1402467	2
O75899	9568		<li>L->P at 163: in dbSNP:rs35449008</li><li>Y->F at 628</li><li>T->A at 869: in dbSNP:rs10985765</li>									<li>rs10985765</li><li>rs35449008</li>	2
O75901	9182		<li>A->T at 285: in dbSNP:rs7397266</li>									rs7397266	2
O75908	8435		<li>E->G at 14: in dbSNP:rs9658625</li><li>T->I at 254: in dbSNP:rs2272296</li>									<li>rs9658625</li><li>rs2272296</li>	2
O75912	9162		<li>L->F at 153</li>										2
O75914	5063		<li>R->C at 67: in MRX30, MIM: 300558</li><li>A->E at 380: in MRX30, MIM: 300558</li><li>T->S at 440: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 300558</li>								Mental retardation X-linked type 30 (MRX30) [MIM:300558]		2
O75916	8787		<li>S->L at 258: in dbSNP:rs12452285</li><li>W->R at 299: in PERRS, MIM: 608415</li>								Prolonged electroretinal response suppression (PERRS) [MIM:608415]	rs12452285	2
O75934	10286		<li>N->S at 139: in a colorectal cancer sample; somatic mutation</li>										2
O75949	27112		<li>L->P at 172: in dbSNP:rs1171942</li>									rs1171942	2
O75951	57151		<li>F->S at 139: in dbSNP:rs9754</li>									rs9754	2
O75955	10211		<li>S->N at 52: in dbSNP:rs3180825</li>									rs3180825	2
O75976	1362		<li>K->E at 36: in dbSNP:rs17857300</li><li>E->G at 454: in dbSNP:rs17857301</li><li>H->N at 505: in dbSNP:rs17854355</li><li>T->I at 899: in dbSNP:rs1860543</li>									<li>rs17854355</li><li>rs1860543</li><li>rs17857301</li><li>rs17857300</li>	2
O76001			<li>T->A at 113: in allele 6M1-3*02</li><li>R->Q at 226: in allele 6M1-3*02</li><li>V->I at 228: in allele 6M1-3*03</li><li>I->M at 261: in allele 6M1-3*03 and allele 6M1-3*04</li>										2
O76002	26707		<li>H->Y at 74: in allele 6M1-6*02 and allele 6M1-6*03; dbSNP:rs3116855</li><li>A->T at 111: in allele 6M1-6*03; dbSNP:rs3129157</li><li>A->V at 146: in allele 6M1-6*02 and allele 6M1-6*03; dbSNP:rs3116856</li><li>A->T at 218: in allele 6M1-6*02 and allele 6M1-6*03; dbSNP:rs3130743</li>									<li>rs3129157</li><li>rs3130743</li><li>rs3116855</li><li>rs3116856</li>	2
O76003	10539		<li>Q->H at 21: in dbSNP:rs13991</li><li>P->S at 123: in dbSNP:rs2274217</li>									<li>rs13991</li><li>rs2274217</li>	2
O76013	8689		<li>A->V at 119: in dbSNP:rs8082683</li><li>Q->R at 126: in dbSNP:rs8069943</li><li>R->Q at 179: in dbSNP:rs9675246</li><li>R->C at 277: in dbSNP:rs9904102</li><li>T->M at 315: in dbSNP:rs2301354</li><li>N->T at 357: in dbSNP:rs11657323</li>									<li>rs11657323</li><li>rs9904102</li><li>rs8069943</li><li>rs9675246</li><li>rs8082683</li><li>rs2301354</li>	2
O76014	8688		<li>G->C at 13: in dbSNP:rs9910204</li><li>N->S at 39: in dbSNP:rs9916724</li><li>T->A at 72: in dbSNP:rs9916484</li><li>S->C at 73: in dbSNP:rs9916475</li><li>A->V at 217: in dbSNP:rs16966811</li><li>A->D at 306: in dbSNP:rs2071607</li><li>S->F at 421: in dbSNP:rs35371972</li><li>T->M at 422: in dbSNP:rs8071814</li><li>P->S at 434: in dbSNP:rs17737019</li>									<li>rs9916484</li><li>rs9910204</li><li>rs17737019</li><li>rs16966811</li><li>rs9916475</li><li>rs2071607</li><li>rs8071814</li><li>rs9916724</li><li>rs35371972</li>	2
O76024	7466		<li>P->L at 16: in dbSNP:rs34653805</li><li>A->V at 58: in WFS, MIM: 222300</li><li>G->R at 107, MIM: 222300</li><li>Y->N at 110: in WFS, MIM: 222300</li><li>A->T at 126: in WFS, MIM: 222300</li><li>A->T at 133: in WFS, MIM: 222300</li><li>E->K at 169: in WFS, MIM: 222300</li><li>K->Q at 193: in dbSNP:rs41264699, MIM: 222300</li><li>P->S at 292: in WFS, MIM: 222300</li><li>I->S at 296: in WFS, MIM: 222300</li><li>A->V at 326, MIM: 222300</li><li>I->V at 333: in dbSNP:rs1801212, MIM: 222300</li><li>Missing  at 350: in WFS, MIM: 222300</li><li>Missing  at 354: in WFS, MIM: 222300</li><li>Missing  at 414: in WFS, MIM: 222300</li><li>Missing  at 415: in WFS, MIM: 222300</li><li>G->R at 437: in WFS, MIM: 222300</li><li>S->I at 443: in WFS, MIM: 222300</li><li>R->H at 456: in dbSNP:rs1801208, MIM: 222300</li><li>R->S at 457: in WFS, MIM: 222300</li><li>Missing  at 461-463: in WFS, MIM: 222300</li><li>Missing  at 468: in WFS, MIM: 222300</li><li>P->L at 504: in WFS; dbSNP:rs28937892, MIM: 222300</li><li>Missing  at 508-512: in WFS, MIM: 222300</li><li>Missing  at 540: in WFS, MIM: 222300</li><li>A->T at 559: rare polymorphism; could be a risk factor for affective disorder: in dbSNP rsrs55814513, MIM: 222300</li><li>Missing  at 567-568: in WFS, MIM: 222300</li><li>G->S at 576: in dbSNP:rs1805069, MIM: 222300</li><li>A->V at 602: in dbSNP:rs2230720, MIM: 222300</li><li>R->H at 611: in dbSNP:rs734312, MIM: 222300</li><li>R->W at 629: in WFS, MIM: 222300</li><li>K->T at 634: in DFNA6, MIM: 600965</li><li>R->C at 653: in a patient with type 2 diabetes, MIM: 600965</li><li>Y->C at 669: in WFS, MIM: 222300</li><li>G->R at 674, MIM: 222300</li><li>A->V at 684, MIM: 222300</li><li>C->R at 690: in WFS, MIM: 222300</li><li>G->V at 695: in WFS; dbSNP:rs28937891, MIM: 222300</li><li>T->M at 699: in DFNA6: in dbSNP rsrs28937894, MIM: 600965</li><li>W->C at 700: in WFS, MIM: 222300</li><li>R->C at 708, MIM: 222300</li><li>A->T at 716: in DFNA6, MIM: 600965</li><li>I->V at 720: in dbSNP:rs1805070, MIM: 600965</li><li>P->L at 724: in WFS; dbSNP:rs28937890, MIM: 222300</li><li>G->S at 736: in WFS, MIM: 222300</li><li>E->K at 737, MIM: 222300</li><li>V->M at 779: in DFNA6, MIM: 600965</li><li>G->R at 780: in WFS, MIM: 222300</li><li>I->V at 802, MIM: 222300</li><li>R->C at 818: in WFS; dbSNP:rs35932623, MIM: 222300</li><li>L->P at 829: in DFNA6, MIM: 600965</li><li>G->D at 831: in DFNA6: in dbSNP rsrs28937895, MIM: 600965</li><li>E->K at 864: in Wolfram-like syndrome; autosomal dominant, MIM: 600965</li><li>V->M at 871, MIM: 600965</li><li>P->L at 885: in WFS; mild form, MIM: 222300</li>								<li>Non-syndromic sensorineural deafness autosomal dominant type 6 (DFNA6) [MIM:600965]</li><li>Wolfram syndrome (WFS) [MIM:222300]</li>	<li>rs55814513</li><li>rs1805070</li><li>rs41264699</li><li>rs28937892</li><li>rs28937891</li><li>rs28937890</li><li>rs35932623</li><li>rs1801208</li><li>rs1801212</li><li>rs734312</li><li>rs28937895</li><li>rs28937894</li><li>rs34653805</li><li>rs2230720</li><li>rs1805069</li>	2
O76027	8416		<li>A->T at 28: in dbSNP:rs16832595</li><li>T->A at 114: in dbSNP:rs7536645</li><li>A->T at 119: in dbSNP:rs16832602</li><li>D->G at 166: in dbSNP:rs267733</li><li>R->Q at 225: in dbSNP:rs7542365</li><li>R->Q at 232: in dbSNP:rs7542365</li>									<li>rs7536645</li><li>rs7542365</li><li>rs267733</li><li>rs16832595</li><li>rs16832602</li>	2
O76031	10845		<li>I->T at 488: in dbSNP:rs35754835</li>									rs35754835	2
O76036	9437		<li>K->Q at 82: in dbSNP:rs2278428</li><li>D->Y at 87: in a colorectal cancer sample; somatic mutation</li>									rs2278428	2
O76038	10590		<li>A->V at 216: in dbSNP:rs6942245</li>									rs6942245	2
O76039	6792		<li>C->F at 152: in atypical CDKL5-related Rett syndrome, MIM: 300672</li><li>R->S at 175: in atypical CDKL5-related Rett syndrome, MIM: 300672</li><li>P->L at 180: in ISSX, MIM: 308350</li><li>N->H at 368: in a colorectal cancer sample; somatic mutation, MIM: 308350</li><li>A->T at 374: in a metastatic melanoma sample; somatic mutation, MIM: 308350</li><li>P->Q at 574: in an ovarian serous carcinoma sample; somatic mutation, MIM: 308350</li><li>T->A at 734: in dbSNP rsrs55803460, MIM: 308350</li><li>Q->P at 791: in dbSNP:rs35478150, MIM: 308350</li><li>V->A at 793: in ISSX; uncertain pathogenicity, MIM: 308350</li><li>V->M at 999: in dbSNP:rs35693326, MIM: 308350</li><li>E->G at 1023: in dbSNP rsrs34166184, MIM: 308350</li>							O76039	<li>X-linked infantile spasm syndrome (ISSX) [MIM:308350]</li><li>Atypical CDKL5-related Rett syndrome [MIM:300672]</li>	<li>rs55803460</li><li>rs35693326</li><li>rs34166184</li><li>rs35478150</li>	2
O76041	10529		<li>Q->H at 187</li><li>A->D at 219: in dbSNP:rs2296610</li><li>M->V at 351: in dbSNP:rs4025981</li><li>D->H at 378: in dbSNP:rs41277370</li><li>N->K at 654: associated with non-familial IDC in the homozygous state; dbSNP:rs4748728</li><li>T->A at 728</li>									<li>rs4748728</li><li>rs4025981</li><li>rs2296610</li><li>rs41277370</li>	2
O76054	23541		<li>R->K at 11: in dbSNP:rs757660</li>									rs757660	2
O76062	7108		<li>A->V at 119: in dbSNP:rs11539360</li><li>T->I at 299: in dbSNP:rs1129195</li>									<li>rs1129195</li><li>rs11539360</li>	2
O76070	6623		<li>E->V at 110: in dbSNP:rs9864</li>									rs9864	2
O76074	8654		<li>V->A at 93: in dbSNP:rs3733526</li><li>S->A at 181: in dbSNP:rs17051276</li>									<li>rs3733526</li><li>rs17051276</li>	2
O76075	1677		<li>R->K at 196: in dbSNP:rs12738235</li><li>K->R at 277: in dbSNP:rs12564400</li>									<li>rs12738235</li><li>rs12564400</li>	2
O76076	8839		<li>R->Q at 59: in dbSNP:rs33932543</li>									rs33932543	2
O76090	7439		<li>T->P at 6: in VMD2 and AVMD: in dbSNP rsrs28940275, MIM: 153700</li><li>T->R at 6: in VMD2, MIM: 153700</li><li>V->A at 9: in VMD2, MIM: 153700</li><li>V->M at 9: in VMD2: in dbSNP rsrs28940276, MIM: 153700</li><li>A->T at 10: in VMD2, MIM: 153700</li><li>A->V at 10: in VMD2, MIM: 153700</li><li>N->I at 11: in VMD2, MIM: 153700</li><li>R->H at 13: in VMD2, MIM: 153700</li><li>S->F at 16: in VMD2, MIM: 153700</li><li>F->C at 17: in VMD2, MIM: 153700</li><li>L->V at 21: in VMD2, MIM: 153700</li><li>W->C at 24: in VMD2, MIM: 153700</li><li>R->Q at 25: in VMD2, MIM: 153700</li><li>R->W at 25: in VMD2, MIM: 153700</li><li>G->R at 26: in VMD2, MIM: 153700</li><li>S->R at 27: in VMD2, MIM: 153700</li><li>Y->H at 29: in VMD2, MIM: 153700</li><li>K->R at 30: in VMD2, MIM: 153700</li><li>L->P at 41: in VMD2 and ARB, MIM: 153700</li><li>R->H at 47: in AVMD: in dbSNP rsrs28940278, MIM: 608161</li><li>Q->L at 58: in VMD2, MIM: 153700</li><li>L->V at 67, MIM: 153700</li><li>I->N at 73: in VMD2, MIM: 153700</li><li>F->L at 80: in VMD2, MIM: 153700</li><li>L->V at 82: in VMD2, MIM: 153700</li><li>Y->H at 85: in VMD2; dbSNP:rs28940274, MIM: 153700</li><li>V->A at 89: in VMD2, MIM: 153700</li><li>T->I at 91: in VMD2, MIM: 153700</li><li>R->C at 92: in VMD2, MIM: 153700</li><li>R->H at 92: in VMD2, MIM: 153700</li><li>R->S at 92: in VMD2, MIM: 153700</li><li>W->C at 93: in VMD2; dbSNP:rs28940273, MIM: 153700</li><li>Q->H at 96: in VMD2, MIM: 153700</li><li>N->K at 99: in VMD2, MIM: 153700</li><li>L->R at 100: in VMD2, MIM: 153700</li><li>P->T at 101: in VMD2, MIM: 153700</li><li>W->R at 102: in VMD2, MIM: 153700</li><li>D->E at 104: in VMD2, MIM: 153700</li><li>D->H at 104: in VMD2, MIM: 153700</li><li>R->C at 105: in age-related macular degeneration, MIM: 153700</li><li>F->L at 113: in VMD2, MIM: 153700</li><li>E->Q at 119: in MCDCA; sporadic; dbSNP:rs1805142, MIM: 153870</li><li>N->K at 133: in VMD2, MIM: 153700</li><li>G->S at 135: in VMD2, MIM: 153700</li><li>L->R at 140: in VMD2, MIM: 153700</li><li>R->H at 141: in VMD2 and ARB; reduced whole-cell conductance, MIM: 153700</li><li>A->K at 146: in AVMD; sporadic; requires 2 nucleotide substitutions, MIM: 608161</li><li>P->A at 152: in ARB; reduced whole-cell conductance, MIM: 611809</li><li>A->V at 195: in VMD2, MIM: 153700</li><li>I->T at 201: in VMD2, MIM: 153700</li><li>L->I at 207: in VMD2, MIM: 153700</li><li>S->N at 209: in VMD2, MIM: 153700</li><li>T->I at 216: in a sporadic case of age-related macular degeneration, MIM: 153700</li><li>R->C at 218: in VMD2, MIM: 153700</li><li>R->H at 218: in VMD2, MIM: 153700</li><li>R->Q at 218: in VMD2, MIM: 153700</li><li>R->S at 218: in VMD2, MIM: 153700</li><li>C->W at 221: in VMD2, MIM: 153700</li><li>G->V at 222: in Leber congenital amaurosis, MIM: 153700</li><li>L->M at 224: in VMD2, MIM: 153700</li><li>L->P at 224: in VMD2, MIM: 153700</li><li>Y->C at 227: in VMD2; dbSNP:rs28941469, MIM: 153700</li><li>Y->N at 227: in VMD2: in dbSNP rsrs28941469, MIM: 153700</li><li>S->R at 231: in VMD2, MIM: 153700</li><li>V->L at 235: in VMD2, MIM: 153700</li><li>V->M at 235: in VMD2, MIM: 153700</li><li>T->R at 237: in VMD2, MIM: 153700</li><li>T->N at 241: in VMD2, MIM: 153700</li><li>A->T at 243: in VMD2; dbSNP:rs28940570, MIM: 153700</li><li>A->V at 243: in VMD2 and AVMD: in dbSNP rsrs28940570, MIM: 153700</li><li>V->I at 275: in age-related macular degeneration, MIM: 153700</li><li>F->L at 276: in VMD2, MIM: 153700</li><li>Q->K at 293: in VMD2, MIM: 153700</li><li>L->V at 294: in VMD2, MIM: 153700</li><li>I->T at 295: in VMD2, MIM: 153700</li><li>Missing  at 295: in VMD2, MIM: 153700</li><li>N->H at 296: in VMD2, MIM: 153700</li><li>N->S at 296: in VMD2, MIM: 153700</li><li>P->A at 297: in VMD2, MIM: 153700</li><li>P->S at 297: in VMD2; dbSNP:rs1805143, MIM: 153700</li><li>F->S at 298: in VMD2, MIM: 153700</li><li>G->E at 299: in VMD2: in dbSNP rsrs28941468, MIM: 153700</li><li>E->D at 300: in VMD2; dbSNP:rs1805144, MIM: 153700</li><li>E->K at 300: in VMD2, MIM: 153700</li><li>D->E at 301: in VMD2, MIM: 153700</li><li>D->N at 301: in VMD2, MIM: 153700</li><li>D->G at 302: in VMD2, MIM: 153700</li><li>D->H at 302: in VMD2, MIM: 153700</li><li>D->V at 302: in VMD2, MIM: 153700</li><li>D->E at 303: in VMD2, MIM: 153700</li><li>F->S at 305: in VMD2, MIM: 153700</li><li>E->D at 306: in VMD2, MIM: 153700</li><li>E->G at 306: in VMD2, MIM: 153700</li><li>T->A at 307: in VMD2, MIM: 153700</li><li>T->I at 307: in VMD2, MIM: 153700</li><li>N->S at 308: in VMD2, MIM: 153700</li><li>I->T at 310: in VMD2, MIM: 153700</li><li>V->G at 311: in VMD2, MIM: 153700</li><li>D->N at 312: in AVMD and ARB, MIM: 611809</li><li>V->M at 317: in ARB, MIM: 611809</li><li>M->T at 325: in ARB, MIM: 611809</li><li>A->V at 357: in dbSNP:rs17854138, MIM: 611809</li><li>E->A at 525, MIM: 611809</li><li>E->K at 557, MIM: 611809</li><li>T->A at 561, MIM: 611809</li><li>L->F at 567: in a sporadic case of age-related macular degeneration; could be a rare polymorphism, MIM: 611809</li><li>E->V at 578: in dbSNP:rs1800010, MIM: 611809</li>							<li>O76090</li><li>Q6UY87</li><li>Q8WMR7</li>	<li>Concentric annular macular dystrophy (MCDCA) [MIM:153870]</li><li>Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]</li><li>Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]</li><li>Autosomal recessive bestrophinopathy (ARB) [MIM:611809]</li>	<li>rs28940276</li><li>rs28940275</li><li>rs28940274</li><li>rs28940273</li><li>rs1800010</li><li>rs28940278</li><li>rs28941469</li><li>rs28941468</li><li>rs1805144</li><li>rs1805142</li><li>rs28940570</li><li>rs17854138</li><li>rs1805143</li>	2
O76095	10899		<li>L->F at 16: in dbSNP:rs34686244</li>									rs34686244	2
O76099	26664		<li>S->G at 99: in dbSNP:rs17230134</li><li>V->I at 126: in dbSNP:rs10415562</li><li>E->K at 171: in dbSNP:rs10415312</li><li>S->P at 210: in dbSNP:rs16979912</li>									<li>rs10415312</li><li>rs16979912</li><li>rs17230134</li><li>rs10415562</li>	2
O76100	390892		<li>M->T at 151: in dbSNP:rs12972670</li><li>Q->E at 183: in dbSNP:rs9305052</li><li>I->L at 225: in dbSNP:rs11880955</li><li>A->T at 273: in dbSNP:rs10221530</li>									<li>rs9305052</li><li>rs12972670</li><li>rs11880955</li><li>rs10221530</li>	2
O77932	1797		<li>S->T at 28: in dbSNP:rs1056694</li><li>D->E at 63: in dbSNP:rs2746396</li><li>H->Q at 261: in dbSNP:rs17207867</li><li>A->V at 332: in dbSNP:rs12205138</li>									<li>rs1056694</li><li>rs2746396</li><li>rs12205138</li><li>rs17207867</li>	2
O94761	9401		<li>Q->R at 54: in dbSNP rsrs35198096</li><li>E->G at 71: in dbSNP rsrs34642881</li><li>P->S at 92: in dbSNP rsrs2721190</li><li>G->S at 189: in dbSNP rsrs34371341</li><li>E->D at 267: common polymorphism: in dbSNP rsrs4244612</li><li>A->T at 273: in dbSNP rsrs34103564</li><li>E->K at 301: in dbSNP rsrs34633809</li><li>R->Q at 355</li><li>P->S at 441</li><li>R->C at 522: in dbSNP rsrs35407712</li><li>R->H at 522: in dbSNP rsrs35842750</li><li>S->T at 523</li><li>P->L at 591: in dbSNP rsrs2721191</li><li>P->S at 793</li><li>V->M at 799</li><li>Missing at 857-858</li><li>P->T at 964</li><li>E->K at 976</li><li>R->W at 1004</li><li>R->Q at 1005: common polymorphism</li><li>R->Q at 1021</li><li>R->W at 1021: in BGS, MIM: 218600</li><li>A->T at 1045, MIM: 218600</li><li>G->D at 1105, MIM: 218600</li><li>G->S at 1105, MIM: 218600</li><li>R->H at 1106, MIM: 218600</li><li>G->R at 1113, MIM: 218600</li><li>S->F at 1148, MIM: 218600</li>								Baller-Gerold syndrome (BGS) [MIM:218600]	<li>rs35842750</li><li>rs34371341</li><li>rs34642881</li><li>rs34633809</li><li>rs4244612</li><li>rs2721190</li><li>rs35198096</li><li>rs2721191</li><li>rs35407712</li><li>rs34103564</li>	2
O94762	9400		<li>D->G at 480: in dbSNP:rs820196</li><li>S->N at 628: in dbSNP:rs35566780</li>									<li>rs35566780</li><li>rs820196</li>	2
O94769	1842		<li>Q->P at 56: in dbSNP:rs10120210</li><li>T->S at 109: in dbSNP:rs35496743</li><li>R->Q at 204: in dbSNP:rs34758505</li>									<li>rs10120210</li><li>rs34758505</li><li>rs35496743</li>	2
O94777	8818		<li>T->S at 76: in dbSNP:rs7997</li>									rs7997	2
O94778	343		<li>I->M at 229: in a breast cancer sample; somatic mutation</li><li>A->P at 260: in dbSNP:rs2287798</li>									rs2287798	2
O94779	53942		<li>S->A at 23: in dbSNP:rs10790978</li><li>L->R at 70: in dbSNP:rs7125822</li><li>N->S at 81: in dbSNP:rs10893933</li><li>I->V at 530: in dbSNP:rs11223168</li><li>Y->F at 1065: in dbSNP:rs1944169</li><li>S->T at 1079: in dbSNP:rs1216183</li><li>M->V at 1094: in dbSNP:rs35208161</li>									<li>rs35208161</li><li>rs10790978</li><li>rs7125822</li><li>rs10893933</li><li>rs1216183</li><li>rs1944169</li><li>rs11223168</li>	2
O94788	8854		<li>E->G at 50: in dbSNP:rs34266719</li><li>A->V at 110: in dbSNP rsrs35365164</li><li>V->I at 348: in dbSNP:rs4646626</li><li>E->K at 436: in dbSNP rsrs34744827</li>									<li>rs35365164</li><li>rs34744827</li><li>rs4646626</li><li>rs34266719</li>	2
O94804	6793		<li>R->C at 268: in dbSNP rsrs35826078</li><li>K->E at 277: in a testicular germ cell tumor; somatic mutation</li><li>R->W at 322: in dbSNP rsrs56214442</li><li>T->I at 336: in dbSNP rsrs55972616</li><li>N->S at 467: in dbSNP rsrs56063773</li><li>P->L at 480: in dbSNP:rs34505340</li><li>P->L at 520: in dbSNP:rs17074311</li><li>M->T at 710: in dbSNP rsrs34936670</li><li>S->L at 853: in dbSNP rsrs56066852</li><li>S->T at 905: in dbSNP rsrs55791916</li><li>S->N at 942: in dbSNP:rs1128204</li><li>C->Y at 947: in dbSNP rsrs56355550</li>									<li>rs34936670</li><li>rs1128204</li><li>rs56063773</li><li>rs55791916</li><li>rs56355550</li><li>rs56214442</li><li>rs56066852</li><li>rs17074311</li><li>rs34505340</li><li>rs35826078</li><li>rs55972616</li>	2
O94806	23683		<li>N->D at 42: in dbSNP:rs11896614</li><li>A->T at 128: in dbSNP:rs17852819</li><li>P->S at 225: in dbSNP:rs34280934</li><li>Q->R at 546: in dbSNP:rs17856887</li><li>V->M at 716: in a glioblastoma multiforme sample; somatic mutation</li>									<li>rs34280934</li><li>rs11896614</li><li>rs17856887</li><li>rs17852819</li>	2
O94808	9945		<li>I->V at 471: in dbSNP:rs2303007</li>									rs2303007	2
O94812	8938		<li>D->A at 582: in dbSNP:rs1132356</li><li>S->I at 879: in dbSNP:rs36074509</li>									<li>rs1132356</li><li>rs36074509</li>	2
O94813	9353		<li>S->P at 636</li><li>S->F at 1277</li>										2
O94822	26046		<li>S->L at 403: in dbSNP:rs2254796</li>									rs2254796	2
O94823	23120		<li>C->R at 217: in dbSNP:rs958912</li>									rs958912	2
O94827	57449		<li>F->S at 703: in DSMA4; stability and intracellular location affected severely impairing the NF-kappa-B transduction pathway: in dbSNP rsrs63750315, MIM: 611067</li>	transduction	GO:0009293			intracellular	GO:0005622		Distal spinal muscular atrophy autosomal recessive type 4 (DSMA4) [MIM:611067]	rs63750315	2
O94832	4642		<li>P->S at 765: in dbSNP:rs7209106</li><li>R->H at 771: in dbSNP:rs7215958</li>									<li>rs7215958</li><li>rs7209106</li>	2
O94833	667		<li>H->Y at 1116: in dbSNP:rs6909714</li><li>N->K at 1319: in dbSNP:rs35014998</li><li>L->V at 2011: in dbSNP:rs6459166</li>									<li>rs6909714</li><li>rs6459166</li><li>rs35014998</li>	2
O94851	9645		<li>F->L at 145: in dbSNP:rs2706656</li><li>I->V at 220: in dbSNP:rs2306727</li><li>D->E at 687: in dbSNP:rs3794084</li><li>R->Q at 1089: in dbSNP:rs2270515</li><li>L->P at 1106: in dbSNP:rs1027335</li><li>P->S at 1110: in dbSNP:rs35518829</li>									<li>rs2706656</li><li>rs1027335</li><li>rs2270515</li><li>rs3794084</li><li>rs35518829</li><li>rs2306727</li>	2
O94854	643314		<li>I->V at 824: in dbSNP:rs1746842</li><li>T->A at 969: in dbSNP:rs783822</li><li>E->K at 1058: in dbSNP:rs587523</li>									<li>rs783822</li><li>rs587523</li><li>rs1746842</li>	2
O94855	9871		<li>M->T at 42: in dbSNP:rs10029206</li><li>P->L at 193: in dbSNP:rs6844109</li><li>F->I at 496: in dbSNP:rs11723368</li>									<li>rs6844109</li><li>rs11723368</li><li>rs10029206</li>	2
O94856	23114		<li>T->M at 159: in dbSNP:rs3795564</li>									rs3795564	2
O94874	23376		<li>V->F at 137: in dbSNP:rs28372909</li>									rs28372909	2
O94875	8470		<li>A->V at 1048: in dbSNP:rs725185</li>									rs725185	2
O94876	23023		<li>G->S at 165: in dbSNP:rs784689</li>									rs784689	2
O94880	9678		<li>R->K at 115: in dbSNP:rs218966</li>									rs218966	2
O94885	23328		<li>P->Q at 298: in dbSNP:rs35078400</li><li>Q->R at 884: in dbSNP:rs208696</li>									<li>rs208696</li><li>rs35078400</li>	2
O94886	9725		<li>V->M at 622: in dbSNP:rs1009668</li>									rs1009668	2
O94887	9855		<li>K->N at 185: in dbSNP:rs16843643</li><li>T->I at 260: in dbSNP:rs757978</li><li>V->I at 643: in dbSNP:rs41342147</li>									<li>rs16843643</li><li>rs757978</li><li>rs41342147</li>	2
O94892	9668		<li>L->V at 416: in a breast cancer sample; somatic mutation</li><li>C->Y at 490: in a breast cancer sample; somatic mutation</li>										2
O94903	11212		<li>V->M at 24: in dbSNP:rs35423325</li>									rs35423325	2
O94910	22859		<li>E->Q at 595: in dbSNP:rs34759320</li>									rs34759320	2
O94911	10351		<li>T->A at 256: in dbSNP:rs16973446</li><li>G->S at 331: in dbSNP:rs4147979</li><li>A->V at 416: in dbSNP:rs35621847</li><li>Y->F at 489: in dbSNP:rs12150510</li><li>L->R at 619: in dbSNP:rs35844316</li><li>C->G at 680: in dbSNP:rs16973424</li><li>G->S at 1430: in dbSNP:rs35403175</li>									<li>rs35403175</li><li>rs35621847</li><li>rs35844316</li><li>rs16973424</li><li>rs4147979</li><li>rs12150510</li><li>rs16973446</li>	2
O94913	51585		<li>Q->H at 651: in dbSNP:rs7935175</li><li>H->Y at 1119: in dbSNP:rs17513642</li><li>E->K at 1402: in dbSNP:rs11233510</li>									<li>rs11233510</li><li>rs17513642</li><li>rs7935175</li>	2
O94915	285527		<li>I->V at 1878: in dbSNP:rs7670111</li>									rs7670111	2
O94919	23052		<li>V->M at 350: in dbSNP:rs3740862</li><li>G->V at 446: in dbSNP:rs3740861</li>									<li>rs3740861</li><li>rs3740862</li>	2
O94921	5218		<li>M->I at 432: in an ovarian mucinous carcinoma; somatic mutation</li><li>S->R at 463</li>										2
O94925	2744		<li>A->P at 254: in dbSNP:rs16833035</li>									rs16833035	2
O94927	23354		<li>P->L at 213: in dbSNP:rs2301596</li><li>A->D at 277: in dbSNP:rs2285412</li>									<li>rs2285412</li><li>rs2301596</li>	2
O94929	22885		<li>G->D at 125: in dbSNP:rs35907283</li>									rs35907283	2
O94933	22865		<li>I->V at 605: in dbSNP:rs3828419</li>									rs3828419	2
O94941	22888		<li>T->M at 96: in dbSNP:rs999409</li><li>L->P at 479: in dbSNP:rs34205880</li>									<li>rs999409</li><li>rs34205880</li>	2
O94952	23014		<li>N->T at 180: in dbSNP:rs11556202</li>									rs11556202	2
O94953	23030		<li>N->T at 29: in dbSNP:rs11667206</li><li>K->E at 710: in dbSNP:rs2620836</li>									<li>rs2620836</li><li>rs11667206</li>	2
O94955	22836		<li>R->Q at 20: in dbSNP:rs17855649</li><li>P->R at 21: in dbSNP:rs2302980</li><li>N->D at 262: in dbSNP:rs34899</li>									<li>rs34899</li><li>rs2302980</li><li>rs17855649</li>	2
O94956	11309		<li>E->K at 77: in a breast cancer sample; somatic mutation</li><li>V->M at 201: in dbSNP:rs35199625</li><li>R->Q at 312: in dbSNP:rs12422149</li><li>T->I at 392: in dbSNP:rs1621378</li><li>S->F at 486: in dbSNP:rs2306168</li>									<li>rs1621378</li><li>rs12422149</li><li>rs2306168</li><li>rs35199625</li>	2
O94966	10869		<li>D->H at 36: in dbSNP:rs11552724</li>									rs11552724	2
O94972	4591		<li>V->I at 838: in dbSNP:rs7222388</li>									rs7222388	2
O94979	22872		<li>I->V at 263: in dbSNP:rs34554214</li><li>N->K at 456: in dbSNP:rs3797036</li><li>P->L at 841: in dbSNP:rs35579207</li><li>P->T at 1055: in dbSNP:rs35739017</li>									<li>rs34554214</li><li>rs35579207</li><li>rs3797036</li><li>rs35739017</li>	2
O94983	23125		<li>A->P at 267: in dbSNP:rs238234</li><li>S->P at 903: in dbSNP:rs16942615</li>									<li>rs238234</li><li>rs16942615</li>	2
O94986	22995		<li>S->L at 54: in dbSNP:rs2289181</li><li>S->I at 793: in dbSNP:rs2289178</li><li>L->V at 914: in dbSNP:rs16961560</li><li>V->A at 1106: in dbSNP:rs16961557</li>									<li>rs16961557</li><li>rs2289181</li><li>rs2289178</li><li>rs16961560</li>	2
O94988	10144		<li>V->I at 443: in dbSNP:rs7657817</li>									rs7657817	2
O94989	22899		<li>G->V at 155: in dbSNP:rs17857129</li><li>L->P at 277: in dbSNP:rs871841</li><li>S->P at 831: in dbSNP:rs3744647</li>									<li>rs3744647</li><li>rs871841</li><li>rs17857129</li>	2
O94993	11063		<li>Q->K at 429: in dbSNP:rs12188040</li><li>V->M at 749: in dbSNP:rs889057</li>									<li>rs889057</li><li>rs12188040</li>	2
O95006	135948		<li>A->V at 98: in dbSNP:rs2240359</li><li>T->A at 170: in dbSNP:rs13229174</li><li>Y->H at 278: in dbSNP:rs13235235</li>									<li>rs2240359</li><li>rs13229174</li><li>rs13235235</li>	2
O95007	135946		<li>R->C at 143: in dbSNP:rs7787378</li>									rs7787378	2
O95025	223117		<li>K->Q at 701: in dbSNP:rs7800072</li>									rs7800072	2
O95045	151531		<li>R->S at 10: in dbSNP:rs6710480</li><li>M->L at 78: in dbSNP:rs7561584</li>									<li>rs6710480</li><li>rs7561584</li>	2
O95050	11185		<li>D->N at 28: in dbSNP:rs4723010</li><li>M->V at 205: in dbSNP:rs2302339</li><li>E->G at 219: in dbSNP:rs2302340</li><li>N->S at 246: in dbSNP:rs6970210</li><li>F->C at 254: in dbSNP:rs4720015</li><li>R->H at 258: in dbSNP:rs6970605</li>									<li>rs2302340</li><li>rs6970605</li><li>rs4720015</li><li>rs4723010</li><li>rs6970210</li><li>rs2302339</li>	2
O95067	9133		<li>M->T at 100: in dbSNP:rs16941036</li><li>V->I at 135: in dbSNP:rs2306785</li><li>I->T at 395: in dbSNP:rs28383563</li>									<li>rs2306785</li><li>rs16941036</li><li>rs28383563</li>	2
O95072	9985		<li>R->C at 31: in dbSNP:rs34075659</li><li>P->L at 294: in dbSNP:rs35425516</li>									<li>rs34075659</li><li>rs35425516</li>	2
O95073	100128414		<li>R->K at 226: in dbSNP:rs3136422</li>									rs3136422	2
O95076	257		<li>P->A at 234: in dbSNP:rs12749726</li>									rs12749726	2
O95081	3268		<li>T->N at 365: in dbSNP:rs34731997</li>									rs34731997	2
O95104	57466		<li>S->Y at 846: in dbSNP:rs12152067</li>									rs12152067	2
O95125	7753		<li>V->A at 154: in dbSNP:rs1144507</li><li>G->A at 533: in dbSNP rsrs34111365</li>									<li>rs1144507</li><li>rs34111365</li>	2
O95150	9966		<li>F->L at 110: in dbSNP:rs16931745</li>									rs16931745	2
O95153	9256		<li>Q->R at 514: in dbSNP:rs2072145</li><li>A->T at 586: in dbSNP:rs2072147</li><li>Q->R at 817: in dbSNP:rs9913145</li><li>W->R at 851: in dbSNP:rs9905604</li><li>H->L at 1118: in dbSNP:rs3744099</li><li>A->P at 1140: in dbSNP:rs2680704</li><li>R->C at 1253: in dbSNP:rs3744101</li><li>H->R at 1728: in dbSNP:rs11079346</li><li>G->E at 1830: in dbSNP:rs2301868</li>									<li>rs11079346</li><li>rs9913145</li><li>rs3744101</li><li>rs2680704</li><li>rs2072145</li><li>rs3744099</li><li>rs2072147</li><li>rs2301868</li><li>rs9905604</li>	2
O95154	22977		<li>V->M at 138: in dbSNP rsrs2231198</li><li>N->D at 215: in dbSNP:rs1738023</li><li>T->A at 323: in dbSNP:rs1738025</li>									<li>rs1738023</li><li>rs1738025</li><li>rs2231198</li>	2
O95163	8518		<li>R->C at 70: in dbSNP:rs3737311</li><li>M->K at 182: in dbSNP:rs10521092</li><li>E->K at 312: in dbSNP:rs1140064</li><li>R->Q at 525: in dbSNP:rs838827</li><li>R->P at 696: in FD; mild phenotype; phosphorylation is reduced, MIM: 223900</li><li>G->E at 765: in dbSNP:rs2230792, MIM: 223900</li><li>I->L at 816: in dbSNP:rs2230793, MIM: 223900</li><li>I->M at 830: in dbSNP:rs2230794, MIM: 223900</li><li>T->N at 848: in dbSNP:rs10979599, MIM: 223900</li><li>K->I at 952: in dbSNP:rs2230798, MIM: 223900</li><li>G->S at 1013: in dbSNP:rs2230795, MIM: 223900</li><li>C->S at 1072: in dbSNP:rs3204145, MIM: 223900</li><li>P->L at 1158: in dbSNP:rs1538660, MIM: 223900</li>	phosphorylation	GO:0016310						Familial dysautonomia (FD) [MIM:223900]	<li>rs838827</li><li>rs2230798</li><li>rs10979599</li><li>rs1538660</li><li>rs2230793</li><li>rs10521092</li><li>rs2230792</li><li>rs3737311</li><li>rs3204145</li><li>rs2230795</li><li>rs1140064</li><li>rs2230794</li>	2
O95167	4696		<li>N->D at 62: in a breast cancer sample; somatic mutation</li>										2
O95170			<li>F->L at 143: in dbSNP:rs8078150</li>									rs8078150	2
O95171	8796		<li>V->L at 336: in dbSNP:rs34164479</li><li>R->K at 386: in dbSNP:rs2274016</li><li>K->R at 480: in dbSNP:rs8002725</li>									<li>rs8002725</li><li>rs34164479</li><li>rs2274016</li>	2
O95177	750		<li>Missing  at 47-54: in short isoform</li>										2
O95180	8912		<li>F->L at 161: in IGE6, MIM: 611942</li><li>E->K at 282: in IGE6, MIM: 611942</li><li>M->V at 313: in dbSNP:rs36117280, MIM: 611942</li><li>C->S at 456: in IGE6, MIM: 611942</li><li>G->S at 499: in IGE6, MIM: 611942</li><li>P->L at 640, MIM: 611942</li><li>P->L at 648: in IGE6, MIM: 611942</li><li>V->A at 664: in dbSNP:rs4984636, MIM: 611942</li><li>P->S at 684, MIM: 611942</li><li>R->Q at 744: in IGE6, MIM: 611942</li><li>A->V at 748: in IGE6, MIM: 611942</li><li>G->D at 773: in IGE6, MIM: 611942</li><li>G->S at 784: in IGE6, MIM: 611942</li><li>R->C at 788: in dbSNP:rs3751664, MIM: 611942</li><li>V->M at 812: in dbSNP:rs28365119, MIM: 611942</li><li>V->M at 831: in IGE6, MIM: 611942</li><li>G->S at 848: in IGE6, MIM: 611942</li><li>D->N at 1463: in IGE6, MIM: 611942</li><li>E->G at 1974: in dbSNP:rs3751886, MIM: 611942</li><li>R->H at 2032: in dbSNP:rs1054644, MIM: 611942</li><li>R->H at 2060: in dbSNP:rs1054644, MIM: 611942</li><li>R->H at 2077: in dbSNP:rs1054645, MIM: 611942</li><li>P->S at 2173, MIM: 611942</li>								Idiopathic generalized epilepsy type 6 (IGE6) [MIM:611942]	<li>rs1054644</li><li>rs4984636</li><li>rs28365119</li><li>rs36117280</li><li>rs3751664</li><li>rs3751886</li><li>rs1054645</li>	2
O95182	4701		<li>P->A at 66: in dbSNP:rs2288415</li>									rs2288415	2
O95185	8633		<li>G->V at 37: in dbSNP:rs2306715</li><li>M->T at 721: in dbSNP:rs2289043</li><li>A->T at 841: in dbSNP:rs34585936</li>									<li>rs2289043</li><li>rs34585936</li><li>rs2306715</li>	2
O95190	4947		<li>P->L at 70: in dbSNP:rs3751534</li>									rs3751534	2
O95197	10313		<li>A->E at 6: in dbSNP:rs11551944</li>									rs11551944	2
O95199	1102		<li>A->T at 263: in dbSNP:rs9332000</li><li>C->S at 515: in dbSNP:rs9332075</li>									<li>rs9332075</li><li>rs9332000</li>	2
O95201	7755		<li>T->A at 43: in dbSNP:rs909410</li><li>A->D at 255: in dbSNP:rs12445220</li>									<li>rs12445220</li><li>rs909410</li>	2
O95206	5100		<li>W->R at 7: in dbSNP:rs3742301</li><li>E->A at 39: in dbSNP:rs5030683</li><li>V->A at 743: in dbSNP:rs5030685</li><li>K->N at 956: in a breast cancer sample; somatic mutation</li>									<li>rs3742301</li><li>rs5030685</li><li>rs5030683</li>	2
O95208	22905		<li>V->A at 401: in dbSNP:rs6587220</li><li>P->T at 531: in dbSNP:rs1062727</li><li>P->T at 532: in dbSNP:rs1062727</li>									<li>rs1062727</li><li>rs6587220</li>	2
O95218	9406		<li>R->G at 207: in dbSNP:rs11583800</li>									rs11583800	2
O95221	338674		<li>Y->H at 278: in dbSNP:rs11825964</li><li>S->N at 294: in dbSNP:rs2449134</li>									<li>rs2449134</li><li>rs11825964</li>	2
O95222	8590		<li>A->V at 22: in dbSNP:rs7122644</li>									rs7122644	2
O95229	11130		<li>A->S at 4: in dbSNP:rs11005328</li><li>R->G at 187: in dbSNP:rs2241666</li>									<li>rs11005328</li><li>rs2241666</li>	2
O95231	27287		<li>L->P at 42: in dbSNP:rs2240892</li><li>M->V at 79: in dbSNP:rs2240891</li><li>E->K at 101: in dbSNP:rs2270192</li><li>G->R at 191: in dbSNP:rs9418952</li>									<li>rs9418952</li><li>rs2240891</li><li>rs2270192</li><li>rs2240892</li>	2
O95235	10112		<li>E->K at 63: in dbSNP:rs3734116</li><li>P->L at 839: in dbSNP:rs3172747</li>									<li>rs3172747</li><li>rs3734116</li>	2
O95236	80833		<li>S->R at 39: in dbSNP:rs132653</li><li>A->V at 135: in dbSNP:rs6000152</li>									<li>rs6000152</li><li>rs132653</li>	2
O95238	25803		<li>A->T at 57: in dbSNP:rs2233639</li>									rs2233639	2
O95239	24137		<li>L->W at 422: in dbSNP:rs1199457</li><li>A->V at 491: in dbSNP:rs2297871</li><li>L->S at 1193: in dbSNP:rs1046485</li>									<li>rs1199457</li><li>rs1046485</li><li>rs2297871</li>	2
O95243	8930		<li>C->R at 61: in dbSNP:rs2307296</li><li>A->S at 273: in dbSNP:rs10342</li><li>A->T at 273: in dbSNP:rs10342</li><li>S->P at 342: in dbSNP:rs2307289</li><li>E->K at 346: in dbSNP:rs140693</li><li>I->T at 358: in dbSNP:rs2307298</li><li>D->H at 568: in dbSNP:rs2307293</li>									<li>rs140693</li><li>rs2307298</li><li>rs2307289</li><li>rs2307296</li><li>rs10342</li><li>rs2307293</li>	2
O95255			<li>Missing  at 60-62: in PXE; autosomal recessive</li><li>G->D at 61</li><li>W->R at 64</li><li>G->R at 207</li><li>R->G at 265</li><li>K->E at 281: in dbSNP:rs4780606</li><li>I->V at 319</li><li>T->R at 364: in PXE; autosomal recessive, MIM: 264800</li><li>N->K at 411: in PXE; autosomal dominant, MIM: 264800</li><li>A->P at 455: in PXE; autosomal dominant, MIM: 264800</li><li>N->K at 497, MIM: 264800</li><li>R->Q at 518: in PXE, MIM: 264800</li><li>F->S at 568: in PXE; autosomal dominant, MIM: 264800</li><li>V->A at 614: in dbSNP:rs12931472, MIM: 264800</li><li>H->Q at 632: in dbSNP:rs8058694, MIM: 264800</li><li>L->P at 673: in PXE; autosomal dominant, MIM: 264800</li><li>R->Q at 765: in PXE; autosomal dominant, MIM: 264800</li><li>L->H at 953, MIM: 264800</li><li>R->P at 1114: in PXE; autosomal recessive, MIM: 264800</li><li>S->W at 1121: in PXE; autosomal dominant, MIM: 264800</li><li>R->P at 1138: in PXE; autosomal dominant, MIM: 264800</li><li>R->Q at 1138: in PXE; autosomal recessive, MIM: 264800</li><li>R->W at 1138: in PXE; autosomal recessive, MIM: 264800</li><li>G->D at 1203: in PXE; autosomal dominant, MIM: 264800</li><li>W->C at 1241, MIM: 264800</li><li>R->Q at 1268: associated with lower plasma triglycerides and higher plasma HDL cholesterol; dbSNP:rs2238472, MIM: 264800</li><li>V->F at 1298: in PXE; autosomal dominant; abolishes LTC4 and NEM-GS transport, MIM: 264800</li><li>T->I at 1301: in PXE; autosomal dominant, MIM: 264800</li><li>G->R at 1302: in PXE; autosomal dominant; abolishes LTC4 and NEM-GS transport, MIM: 264800</li><li>A->P at 1303: in PXE; autosomal dominant, MIM: 264800</li><li>R->Q at 1314: in PXE; autosomal dominant, MIM: 264800</li><li>R->W at 1314: in PXE; autosomal recessive, MIM: 264800</li><li>G->S at 1321: in PXE; autosomal dominant; abolishes LTC4 and NEM-GS transport, MIM: 264800</li><li>R->C at 1339: in PXE; autosomal recessive, MIM: 264800</li><li>Q->H at 1347: in PXE; autosomal dominant, MIM: 264800</li><li>G->R at 1354: in PXE; autosomal recessive, MIM: 264800</li><li>D->N at 1361: in PXE; autosomal dominant, MIM: 264800</li><li>I->T at 1424: in PXE; autosomal dominant, MIM: 264800</li>	transport	GO:0006810						Pseudoxanthoma elasticum (PXE) [MIM:264800]	<li>rs12931472</li><li>rs4780606</li><li>rs8058694</li>	2
O95256	8807		<li>V->I at 350: in dbSNP:rs11465716</li>									rs11465716	2
O95257	10912		<li>G->S at 112: in dbSNP:rs3138505</li>									rs3138505	2
O95258	9016		<li>E->A at 55: in dbSNP:rs2143598</li>									rs2143598	2
O95264	9177		<li>Y->S at 129: in dbSNP:rs1176744</li><li>I->T at 143: in dbSNP:rs34550504</li><li>S->R at 156</li><li>V->I at 183: in dbSNP:rs17116138</li>									<li>rs34550504</li><li>rs17116138</li><li>rs1176744</li>	2
O95279	8645		<li>P->T at 465: in dbSNP:rs9462487</li>									rs9462487	2
O95292	9217		<li>P->S at 56: in ALS8 and SMAF, MIM: 182980</li>								<li>Amyotrophic lateral sclerosis type 8 (ALS8) [MIM:608627]</li><li>Spinal muscular atrophy autosomal dominant Finkel type (SMAF) [MIM:182980]</li>		2
O95294	8437		<li>V->L at 11: in dbSNP:rs7960087</li><li>T->M at 58: in dbSNP:rs34598602</li><li>H->R at 321: in dbSNP:rs1284879</li>									<li>rs7960087</li><li>rs1284879</li><li>rs34598602</li>	2
O95295	23557		<li>S->C at 112: in dbSNP:rs1802461</li>									rs1802461	2
O95298	4718		<li>L->V at 46: in dbSNP:rs8875</li>									rs8875	2
O95299	4705		<li>A->G at 2: in dbSNP:rs11541494</li>									rs11541494	2
O95319	10659		<li>D->H at 438: in dbSNP:rs1050942</li>									rs1050942	2
O95340	9060		<li>E->K at 10: significant decrease of activity; dbSNP:rs17173698</li><li>M->L at 281: in dbSNP:rs45624631</li><li>V->M at 291: significant decrease of activity; dbSNP:rs45467596</li><li>R->K at 432: in dbSNP rsrs17129133</li>									<li>rs45467596</li><li>rs17173698</li><li>rs17129133</li><li>rs45624631</li>	2
O95342	8647		<li>E->G at 186: in BRIC2, MIM: 605479</li><li>I->V at 206: in dbSNP:rs11568357, MIM: 605479</li><li>G->V at 238: in PFIC2, MIM: 601847</li><li>V->A at 284, MIM: 601847</li><li>V->L at 284: in PFIC2, MIM: 601847</li><li>E->G at 297: in PFIC2 and BRIC2; reduced transport capacity for taurocholate: in dbSNP rsrs11568372, MIM: 601847</li><li>R->K at 299: in dbSNP:rs2287617, MIM: 601847</li><li>C->S at 336: in PFIC2, MIM: 601847</li><li>R->Q at 415, MIM: 601847</li><li>R->T at 432: in BRIC2; reduced transport capacity for taurocholate, MIM: 605479</li><li>V->A at 444: more frequent in patients with drug-induced cholestasis than healthy controls; associated with lower hepatic expression; does not affect transport capacity for taurocholate; dbSNP:rs2287622, MIM: 605479</li><li>K->E at 461: in PFIC2, MIM: 601847</li><li>D->G at 482: in PFIC2, MIM: 601847</li><li>A->T at 570: in BRIC2, MIM: 605479</li><li>N->S at 591: in a patient with intrahepatic cholestasis of pregnancy: in dbSNP rsrs11568367, MIM: 605479</li><li>R->G at 616, MIM: 605479</li><li>T->A at 619, MIM: 605479</li><li>D->Y at 676: in fluvastatin-induced cholestasis; does not affect transport capacity for taurocholate, MIM: 605479</li><li>M->V at 677: does not affect transport capacity for taurocholate: in dbSNP rsrs11568364, MIM: 605479</li><li>R->H at 698, MIM: 605479</li><li>G->R at 855: in ethinylestradiol/gestodene-induced cholestasis; loss of transport capacity for taurocholate, MIM: 605479</li><li>A->V at 865, MIM: 605479</li><li>T->P at 923: in BRIC2, MIM: 605479</li><li>A->P at 926: in BRIC2, MIM: 605479</li><li>R->Q at 958, MIM: 605479</li><li>G->R at 982: in PFIC2, MIM: 601847</li><li>G->D at 1004: in PFIC2, MIM: 601847</li><li>R->C at 1050: in BRIC2, MIM: 605479</li><li>R->H at 1128: in BRIC2, MIM: 605479</li><li>R->C at 1153: in PFIC2, MIM: 601847</li><li>E->K at 1186: in dbSNP:rs1521808, MIM: 601847</li><li>R->Q at 1268: in PFIC2, MIM: 601847</li>	<li>pregnancy</li><li>transport</li>	<li>GO:0007565</li><li>GO:0006810</li>						<li>Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]</li><li>Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]</li>	<li>rs2287617</li><li>rs11568372</li><li>rs1521808</li><li>rs2287622</li><li>rs11568364</li><li>rs11568357</li><li>rs11568367</li>	2
O95343	6496		<li>G->D at 69: in HPE2, MIM: 157170</li><li>V->G at 92: in HPE2, MIM: 157170</li><li>I->V at 105: in HPE2, MIM: 157170</li><li>H->P at 173: in HPE2, MIM: 157170</li><li>T->I at 202: in HPE2, MIM: 157170</li><li>L->V at 226: in HPE2, MIM: 157170</li><li>P->R at 231: in HPE2, MIM: 157170</li><li>V->A at 250: in HPE2, MIM: 157170</li><li>R->P at 257: in HPE2, MIM: 157170</li><li>R->W at 257: in HPE2, MIM: 157170</li>								Holoprosencephaly type 2 (HPE2) [MIM:157170]		2
O95347	10592		<li>E->K at 1009: in dbSNP:rs4562395</li>									rs4562395	2
O95352	10533		<li>V->A at 471: in dbSNP:rs36117895</li>									rs36117895	2
O95359	10579		<li>V->I at 170: in dbSNP:rs11200385</li><li>L->V at 798: in a breast cancer sample; somatic mutation</li><li>L->F at 830: in dbSNP:rs10887063</li><li>W->R at 1103: in dbSNP:rs7073433</li><li>A->S at 1347: in a breast cancer sample; somatic mutation</li><li>A->T at 1425: in dbSNP:rs4752642</li><li>P->L at 1492: in dbSNP:rs7920896</li><li>E->K at 1916: in dbSNP:rs12765679</li><li>I->T at 2078: in dbSNP:rs7083331</li><li>N->S at 2102: in dbSNP:rs3750843</li><li>V->A at 2197: in dbSNP:rs2295873</li><li>A->V at 2210: in dbSNP:rs2295874</li><li>P->L at 2216: in dbSNP:rs2295875</li><li>L->H at 2261: in dbSNP:rs2295876</li><li>E->D at 2271: in dbSNP:rs11200483</li><li>V->I at 2718: in dbSNP:rs2295878</li><li>A->T at 2732: in dbSNP:rs2295879</li><li>Q->K at 2900: in dbSNP:rs1063627</li>									<li>rs2295876</li><li>rs12765679</li><li>rs2295875</li><li>rs11200483</li><li>rs2295874</li><li>rs2295879</li><li>rs2295878</li><li>rs10887063</li><li>rs7083331</li><li>rs2295873</li><li>rs1063627</li><li>rs11200385</li><li>rs7073433</li><li>rs7920896</li><li>rs4752642</li><li>rs3750843</li>	2
O95361	10626		<li>E->D at 121: in dbSNP:rs2074890</li><li>R->W at 493: in dbSNP:rs3174720</li><li>G->V at 561: in dbSNP:rs1060903</li>									<li>rs3174720</li><li>rs1060903</li><li>rs2074890</li>	2
O95363	10667		<li>S->C at 57: in dbSNP:rs34382405</li><li>N->S at 280: in dbSNP:rs11243011</li>									<li>rs11243011</li><li>rs34382405</li>	2
O95371			<li>G->S at 16: in dbSNP:rs1218762</li><li>W->C at 149: in dbSNP:rs1218763</li><li>R->H at 229: in dbSNP:rs11648783</li>									<li>rs1218762</li><li>rs11648783</li><li>rs1218763</li>	2
O95376	10425		<li>E->K at 24: in dbSNP:rs11507</li><li>E->D at 29: in dbSNP:rs34221642</li>									<li>rs34221642</li><li>rs11507</li>	2
O95379	25816		<li>S->C at 151: in dbSNP:rs3203922</li>									rs3203922	2
O95382	9064		<li>I->T at 455: in dbSNP:rs1138294</li><li>R->C at 499: in dbSNP:rs11247641</li><li>R->W at 544: in dbSNP:rs55671988</li><li>N->K at 622: in dbSNP:rs35659744</li><li>R->G at 668: in dbSNP:rs55869163</li><li>R->L at 673: in dbSNP:rs56359841</li><li>P->T at 869: in a breast cancer sample; somatic mutation</li><li>S->L at 925: in a breast pleomorphic lobular carcinoma sample; somatic mutation</li><li>T->I at 968: in an ovarian endometrioid cancer sample; somatic mutation</li><li>S->N at 969: in dbSNP:rs17856498</li><li>A->T at 1061: in dbSNP:rs55990440</li><li>G->A at 1233: in dbSNP:rs17162549</li>									<li>rs55671988</li><li>rs1138294</li><li>rs11247641</li><li>rs17162549</li><li>rs55869163</li><li>rs17856498</li><li>rs35659744</li><li>rs55990440</li><li>rs56359841</li>	2
O95389	8838		<li>Q->H at 56: common polymorphism; dbSNP:rs1230345</li><li>R->C at 60: in dbSNP:rs17073260</li><li>C->R at 78: in PPAC: in dbSNP rsrs17073260, MIM: 208230</li>								Progressive pseudorheumatoid arthropathy of childhood (PPAC) [MIM:208230]	<li>rs17073260</li><li>rs1230345</li>	2
O95393	27302		<li>T->S at 200: in dbSNP:rs2231342</li><li>N->K at 250: in dbSNP:rs2231345</li>									<li>rs2231345</li><li>rs2231342</li>	2
O95396	27304	<ul><li>C->A at 239: Impairs sulfurtransferase activity</li><li>C->A at 316: Does not affect sulfurtransferase activity</li><li>C->A at 324: Does not affect sulfurtransferase activity</li><li>C->A at 365: Does not affect sulfurtransferase activity</li><li>C->A at 412: Abolishes sulfurtransferase activity</li><li>K->R at 413: Does not affect sulfurtransferase specificity and activity</li><li>L->K at 414: Does not affect sulfurtransferase specificity and activity</li><li>G->A at 415: Does not affect sulfurtransferase specificity and activity</li><li>N->V at 416: Does not affect sulfurtransferase specificity and activity</li><li>D->R at 417: Results in 470-fold increased activity</li><li>D->T at 417: Results in 90-fold increased activity</li><li>P->G at 458: Does not affect sulfurtransferase specificity and activity</li><li>Y->A at 460: Does not affect sulfurtransferase specificity and activity</li></ul>	<li>S->A at 429: in dbSNP:rs7269297</li>			sulfurtransferase activity	GO:0016783					rs7269297	3
O95399	10911		<li>I->T at 12: in dbSNP:rs34305100</li><li>S->N at 74: in dbSNP:rs2890565</li>									<li>rs2890565</li><li>rs34305100</li>	2
O95400	10421		<li>G->D at 231: in dbSNP:rs13330462</li><li>T->I at 262: in dbSNP:rs34391305</li>									<li>rs34391305</li><li>rs13330462</li>	2
O95409	7546		<li>Q->P at 36: in HPE5; 2-fold increase in luciferase activity, MIM: 609637</li><li>D->F at 152: in HPE5; requires 2 nucleotide substitutions; 50% reduction of luciferase activity, MIM: 609637</li><li>H->HH at 239, MIM: 609637</li><li>Missing at 239, MIM: 609637</li><li>A->AAAAAAAAAAA at 470: in HPE5; near-complete loss of luciferase activity, MIM: 609637</li>							<li>P08659</li><li>Q01158</li><li>P13129</li><li>Q26304</li><li>Q27757</li>	Holoprosencephaly type 5 (HPE5) [MIM:609637]		2
O95415	25798		<li>T->A at 123: in dbSNP:rs12865</li>									rs12865	2
O95425	6840		<li>A->V at 189: in dbSNP:rs10160013</li><li>A->P at 1235: in dbSNP:rs2368406</li><li>S->P at 1688: in dbSNP:rs11007612</li>									<li>rs10160013</li><li>rs11007612</li><li>rs2368406</li>	2
O95427	23556		<li>K->E at 162: in dbSNP:rs17069506</li><li>H->D at 229: in dbSNP:rs9320001</li><li>L->F at 469: in dbSNP:rs3862712</li><li>I->L at 470: in dbSNP:rs3862712</li><li>F->C at 904: in dbSNP:rs34231046</li><li>F->L at 904: in dbSNP:rs34231046</li>									<li>rs17069506</li><li>rs34231046</li><li>rs3862712</li><li>rs9320001</li>	2
O95428	89932		<li>S->G at 33: in dbSNP:rs2280792</li><li>A->T at 191: in dbSNP:rs741842</li><li>N->H at 356: in dbSNP:rs17126331</li><li>V->I at 443: in dbSNP:rs17126352</li><li>A->V at 461: in dbSNP:rs17126354</li><li>H->R at 628: in dbSNP:rs17182244</li><li>Q->H at 723: in dbSNP:rs2242616</li><li>G->R at 896: in dbSNP:rs177386</li><li>L->V at 1192: in dbSNP:rs2107731</li><li>T->M at 1201: in dbSNP:rs4903104</li><li>S->T at 1260: in dbSNP:rs11626824</li>									<li>rs17126331</li><li>rs2242616</li><li>rs17182244</li><li>rs2107731</li><li>rs17126354</li><li>rs2280792</li><li>rs17126352</li><li>rs11626824</li><li>rs4903104</li><li>rs741842</li><li>rs177386</li>	2
O95436	10568		<li>V->A at 45: in dbSNP:rs35426730</li><li>G->R at 106: in pulmonary alveolar microlithiasis, MIM: 265100</li><li>G->D at 634: in dbSNP:rs6448389, MIM: 265100</li>								Pulmonary alveolar microlithiasis [MIM:265100]	<li>rs6448389</li><li>rs35426730</li>	2
O95447	150082		<li>G->S at 17: in dbSNP:rs2837029</li><li>G->S at 547: in dbSNP:rs11558767</li>									<li>rs11558767</li><li>rs2837029</li>	2
O95450	9509		<li>V->M at 74: in dbSNP:rs2271211</li><li>R->H at 241: in dbSNP:rs11750821</li><li>V->I at 245: in dbSNP:rs398829</li><li>E->K at 331: in dbSNP:rs17667857</li><li>G->R at 665: in dbSNP:rs35372714</li><li>R->Q at 827: in dbSNP:rs35445112</li><li>P->S at 1177: in dbSNP:rs1054480</li>									<li>rs17667857</li><li>rs35445112</li><li>rs1054480</li><li>rs2271211</li><li>rs11750821</li><li>rs35372714</li><li>rs398829</li>	2
O95452	10804		<li>T->M at 5: in DFNA3, MIM: 601544</li><li>G->R at 11: in ED2, MIM: 129500</li><li>V->E at 37: in ED2, MIM: 129500</li><li>A->V at 88: in ED2: in dbSNP rsrs28937872, MIM: 129500</li><li>S->G at 139, MIM: 129500</li><li>N->S at 159: in dbSNP:rs35277762, MIM: 129500</li><li>S->T at 199, MIM: 129500</li>								<li>Ectodermal dysplasia type 2 (ED2) [MIM:129500]</li><li>Non-syndromic sensorineural deafness autosomal dominant type 3 (DFNA3) [MIM:601544]</li>	<li>rs28937872</li><li>rs35277762</li>	2
O95455	23483		<li>G->S at 15: in dbSNP:rs34991132</li>									rs34991132	2
O95456	8624		<li>I->V at 166: in dbSNP:rs8131611</li>									rs8131611	2
O95471	1366		<li>A->T at 133: in dbSNP:rs17849410</li><li>A->V at 197: in dbSNP:rs4562</li>									<li>rs4562</li><li>rs17849410</li>	2
O95473	23546		<li>R->W at 27: in dbSNP:rs919804</li>									rs919804	2
O95475	4990		<li>H->N at 141: in dbSNP:rs33912345</li><li>T->A at 165: in MCOPCT2, MIM: 212550</li>								Microphthalmia isolated with cataract type 2 (MCOPCT2) [MIM:212550]	rs33912345	2
O95477	19		<li>P->L at 85: in HDLD2; Alabama, MIM: 604091</li><li>E->D at 210: in a colorectal cancer sample; somatic mutation, MIM: 604091</li><li>R->K at 219: common polymorphism; associated with a decreased severity of CAD; dbSNP:rs2230806, MIM: 604091</li><li>R->C at 230: in HDLD2; dbSNP:rs9282541, MIM: 604091</li><li>A->T at 255: in HDLD1; deficient cellular cholesterol efflux, MIM: 205400</li><li>V->A at 399: in dbSNP:rs9282543, MIM: 205400</li><li>R->W at 587: in HDLD1; dbSNP:rs2853574, MIM: 205400</li><li>W->S at 590: in HDLD1, MIM: 205400</li><li>Q->R at 597: in HDLD1; dbSNP:rs2853578, MIM: 205400</li><li>Missing  at 693: in HDLD2, MIM: 205400</li><li>V->M at 771: in dbSNP:rs2066718, MIM: 205400</li><li>T->P at 774: in dbSNP:rs35819696, MIM: 205400</li><li>K->N at 776, MIM: 205400</li><li>V->I at 825: common polymorphism; dbSNP:rs2066715, MIM: 205400</li><li>I->M at 883: common polymorphism; dbSNP:rs2066714, MIM: 205400</li><li>D->Y at 917: in a colorectal cancer sample; somatic mutation, MIM: 205400</li><li>T->I at 929: in HDLD1, MIM: 205400</li><li>N->H at 935: in HDLD1; dbSNP:rs28937314, MIM: 205400</li><li>N->S at 935: in HDLD1; dbSNP:rs28937313, MIM: 205400</li><li>A->V at 937: in HDLD1, MIM: 205400</li><li>A->D at 1046: in HDLD1, MIM: 205400</li><li>V->I at 1054: in dbSNP:rs13306072, MIM: 205400</li><li>M->T at 1091: in HDLD2, MIM: 604091</li><li>D->Y at 1099: in HDLD2; dbSNP:rs28933692, MIM: 604091</li><li>E->D at 1172: in dbSNP:rs33918808, MIM: 604091</li><li>S->F at 1181, MIM: 604091</li><li>D->N at 1289: in HDLD1, MIM: 205400</li><li>A->T at 1407: in a colorectal cancer sample; somatic mutation, MIM: 205400</li><li>C->R at 1477: in HDLD1, MIM: 205400</li><li>S->L at 1506: in HDLD1, MIM: 205400</li><li>I->R at 1517: in HDLD1, MIM: 205400</li><li>T->I at 1555: in dbSNP:rs1997618, MIM: 205400</li><li>R->K at 1587: common polymorphism; dbSNP:rs2230808, MIM: 205400</li><li>N->D at 1611: associated with atherosclerosis; deficient cellular cholesterol efflux, MIM: 205400</li><li>P->L at 1648: in dbSNP:rs1883024, MIM: 205400</li><li>R->W at 1680: in HDLD1; clinical variant, MIM: 205400</li><li>S->C at 1731, MIM: 205400</li><li>N->H at 1800: in HDLD1, MIM: 205400</li><li>Missing  at 1893-1894: in HDLD2, MIM: 205400</li><li>F->S at 2009: in HDLD2, MIM: 604091</li><li>R->W at 2081: in HDLD1, MIM: 205400</li><li>A->T at 2109: in a colorectal cancer sample; somatic mutation, MIM: 205400</li><li>P->L at 2150: in HDLD2, MIM: 604091</li><li>P->L at 2168: in dbSNP:rs2853577, MIM: 604091</li>								<li>High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]</li><li>High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]</li>	<li>rs33918808</li><li>rs2066718</li><li>rs2066715</li><li>rs9282541</li><li>rs2066714</li><li>rs2853574</li><li>rs28937313</li><li>rs35819696</li><li>rs28933692</li><li>rs1883024</li><li>rs2230806</li><li>rs2230808</li><li>rs28937314</li><li>rs2853577</li><li>rs1997618</li><li>rs2853578</li><li>rs13306072</li><li>rs9282543</li>	2
O95478	10412		<li>R->C at 11: in dbSNP:rs3733793</li>									rs3733793	2
O95479	9563		<li>D->A at 151: in dbSNP:rs34603401</li><li>R->Q at 218: in dbSNP:rs35525021</li><li>R->Q at 453: in CDR; less than 50% of activity than wild-type; dbSNP:rs6688832</li><li>N->D at 484: in dbSNP:rs35404275</li><li>P->L at 554: in dbSNP:rs17368528</li>							<li>P17516</li><li>Q06455</li><li>Q95JH4</li><li>Q95JH5</li>		<li>rs6688832</li><li>rs34603401</li><li>rs17368528</li><li>rs35404275</li><li>rs35525021</li>	2
O95486	10802		<li>S->G at 261: in dbSNP:rs7718102</li><li>T->I at 302: in dbSNP:rs17851746</li><li>T->M at 396: in dbSNP:rs17851745</li>									<li>rs17851746</li><li>rs17851745</li><li>rs7718102</li>	2
O95487	10427		<li>A->G at 456: in dbSNP:rs35705351</li>									rs35705351	2
O95497	8876		<li>T->I at 26: in dbSNP:rs2294757</li><li>A->T at 63</li><li>N->S at 131: in dbSNP:rs2272996</li><li>V->L at 136: in dbSNP rsrs45610032</li><li>D->N at 146: in dbSNP rsrs45624336</li><li>E->D at 296: in dbSNP rsrs45523444</li><li>A->E at 325: in dbSNP rsrs34535050</li><li>T->A at 336: in dbSNP rsrs45562238</li><li>I->T at 373: in dbSNP rsrs35938565</li>									<li>rs45523444</li><li>rs45624336</li><li>rs45610032</li><li>rs2272996</li><li>rs35938565</li><li>rs2294757</li><li>rs34535050</li><li>rs45562238</li>	2
O95498	8875		<li>T->N at 17: in dbSNP rsrs33950336</li><li>V->A at 30: in dbSNP:rs2294760</li><li>D->E at 112: in dbSNP rsrs35993077</li><li>V->I at 241: in dbSNP:rs33920182</li><li>T->S at 349: in dbSNP rsrs36092168</li><li>L->M at 404: in dbSNP:rs4895944</li>									<li>rs35993077</li><li>rs2294760</li><li>rs4895944</li><li>rs33920182</li><li>rs33950336</li><li>rs36092168</li>	2
O95500	23562		<li>T->M at 4</li><li>V->D at 85: in DFNB29, MIM: 605608</li>								Non-syndromic sensorineural deafness autosomal recessive type 29 (DFNB29) [MIM:605608]		2
O95521	65121		<li>L->M at 204: in dbSNP:rs1063767</li><li>Q->E at 252: in dbSNP:rs1063776</li><li>Y->C at 302: in dbSNP:rs17404799</li><li>Y->F at 316: in dbSNP:rs17039293</li><li>R->C at 375: in dbSNP:rs17039307</li><li>R->S at 386: in dbSNP:rs1052908</li>									<li>rs1052908</li><li>rs17039293</li><li>rs17404799</li><li>rs1063776</li><li>rs17039307</li><li>rs1063767</li>	2
O95522	390999		<li>T->K at 53: in dbSNP:rs17346571</li><li>M->T at 157: in dbSNP:rs1812242</li>									<li>rs1812242</li><li>rs17346571</li>	2
O95528	81031		<li>S->R at 81: in ATS, MIM: 208050</li><li>A->S at 106: in dbSNP:rs6094438, MIM: 208050</li><li>R->W at 132: in ATS, MIM: 208050</li><li>G->V at 142: in ATS, MIM: 208050</li><li>A->T at 206: associated with lower insulin level; dbSNP:rs2235491, MIM: 208050</li><li>R->H at 225: in dbSNP:rs34295241, MIM: 208050</li><li>R->Q at 231: in ATS, MIM: 208050</li><li>G->E at 246: in ATS, MIM: 208050</li><li>G->W at 426: in ATS, MIM: 208050</li><li>E->K at 437: in ATS, MIM: 208050</li><li>G->E at 445: in ATS, MIM: 208050</li><li>T->A at 518: in dbSNP:rs6018008, MIM: 208050</li><li>I->V at 537: in dbSNP:rs7348121, MIM: 208050</li>							<li>P67974</li><li>P67973</li><li>P67971</li><li>P69048</li><li>P01330</li><li>P0C236</li><li>P69047</li><li>P07453</li><li>P42633</li><li>P01324</li><li>P68243</li><li>P01320</li><li>P68992</li><li>P81423</li><li>P01328</li><li>Q9TQY7</li><li>P38977</li><li>P01340</li><li>P68990</li><li>P67969</li><li>P68991</li><li>P67968</li><li>P68245</li><li>P81881</li><li>P69046</li><li>P01336</li><li>P68988</li><li>P68987</li><li>P01334</li><li>P01316</li><li>P13190</li><li>P01331</li><li>P15358</li><li>P01314</li><li>P01319</li><li>P09477</li><li>P09476</li><li>P12703</li><li>P29335</li><li>P12704</li><li>P18109</li><li>P68989</li><li>P12708</li>	Arterial tortuosity syndrome (ATS) [MIM:208050]	<li>rs34295241</li><li>rs6094438</li><li>rs6018008</li><li>rs2235491</li><li>rs7348121</li>	2
O95544	65220		<li>N->K at 262: in dbSNP:rs4751</li>									rs4751	2
O95551	51567	<ul><li>T->A at 88: Abolishes function, but retains ability to interact with SMAD3; when associated with A-92</li><li>T->A at 92: Abolishes function, but retains ability to interact with SMAD3; when associated with A-88</li></ul>	<li>S->G at 166: in dbSNP:rs35977478</li><li>Q->E at 249: in dbSNP:rs2294689</li><li>R->Q at 268: in dbSNP:rs17249952</li>							<li>P84022</li><li>P84023</li><li>P84024</li>		<li>rs35977478</li><li>rs17249952</li><li>rs2294689</li>	3
O95561	92346		<li>M->V at 97: in dbSNP:rs16844498</li><li>S->N at 137: in dbSNP:rs1129942</li>									<li>rs1129942</li><li>rs16844498</li>	2
O95567	25770		<li>C->R at 46: in dbSNP:rs9625679</li><li>T->R at 210: in dbSNP:rs714136</li>									<li>rs714136</li><li>rs9625679</li>	2
O95568	92342		<li>E->D at 10: in dbSNP:rs10489177</li><li>F->L at 309: in dbSNP:rs34396097</li><li>R->H at 318: in dbSNP:rs35984232</li><li>A->V at 325: in dbSNP:rs16862686</li><li>K->M at 360: in dbSNP:rs13375701</li>									<li>rs35984232</li><li>rs13375701</li><li>rs34396097</li><li>rs10489177</li><li>rs16862686</li>	2
O95571	23474		<li>Y->C at 38: in EE, MIM: 602473</li><li>T->A at 136: in EE, MIM: 602473</li><li>R->W at 163: in EE: in dbSNP rsrs28940289, MIM: 602473</li><li>L->R at 185: in EE, MIM: 602473</li>								Ethylmalonic encephalopathy (EE) [MIM:602473]	rs28940289	2
O95573	2181		<li>F->S at 551: in dbSNP:rs1046032</li>									rs1046032	2
O95602	25885		<li>P->A at 150: in dbSNP:rs4832242</li><li>Q->E at 349: in dbSNP:rs17026866</li><li>K->E at 364: in dbSNP:rs35239368</li><li>S->N at 396: in dbSNP:rs35443467</li><li>I->V at 815: in dbSNP:rs34302587</li><li>A->T at 1141: in dbSNP:rs34892520</li><li>I->M at 1608: in dbSNP:rs35093541</li>									<li>rs34892520</li><li>rs35443467</li><li>rs35093541</li><li>rs34302587</li><li>rs4832242</li><li>rs35239368</li><li>rs17026866</li>	2
O95620	11062		<li>T->A at 178: in dbSNP:rs6956789</li><li>R->Q at 230: in dbSNP:rs6957510</li>									<li>rs6957510</li><li>rs6956789</li>	2
O95625	27107		<li>G->S at 44: in dbSNP:rs3749323</li><li>T->N at 350: in dbSNP:rs33957144</li>									<li>rs3749323</li><li>rs33957144</li>	2
O95626	23519		<li>L->F at 46: in dbSNP:rs7956679</li>									rs7956679	2
O95631	9423		<li>R->H at 351: in neuroblastoma</li><li>K->E at 489: in neuroblastoma</li>										2
O95665	23620		<li>V->A at 54: in dbSNP:rs6432225</li>									rs6432225	2
O95672	9427		<li>H->Q at 10: in dbSNP:rs2741281</li><li>H->Y at 328: in dbSNP:rs1529874</li>									<li>rs1529874</li><li>rs2741281</li>	2
O95677	2070		<li>L->R at 152: in a colorectal cancer sample; somatic mutation</li><li>G->S at 277: in dbSNP:rs9493627</li><li>D->N at 301: in a colorectal cancer sample; somatic mutation</li>									rs9493627	2
O95678	9119		<li>R->C at 39: in dbSNP:rs2232384</li><li>G->R at 91: in dbSNP:rs298109</li><li>P->A at 117: in dbSNP:rs2232386</li><li>A->T at 161: common polymorphism; may increase risk to develop PFB; the variant is disruptive at late stages of filament assembly compromising the aggregation of keratin molecules into intermediate filaments; dbSNP:rs2232387</li><li>R->Q at 209: in dbSNP:rs2232390</li><li>E->G at 242: in dbSNP:rs2232393</li><li>E->K at 337: in LAHS; dbSNP:rs2232398, MIM: 600628</li><li>I->V at 367: in dbSNP:rs2232402, MIM: 600628</li><li>M->T at 427: in dbSNP:rs2232405, MIM: 600628</li><li>R->C at 432: in dbSNP:rs2232406, MIM: 600628</li><li>R->S at 485: in dbSNP:rs298104, MIM: 600628</li>					intermediate filaments	GO:0005882		Loose anagen hair syndrome (LAHS) [MIM:600628]	<li>rs2232390</li><li>rs2232393</li><li>rs2232384</li><li>rs298104</li><li>rs2232402</li><li>rs2232387</li><li>rs2232406</li><li>rs2232405</li><li>rs2232398</li><li>rs298109</li><li>rs2232386</li>	2
O95696	23774		<li>R->G at 38: in dbSNP:rs11549978</li><li>A->S at 321: in dbSNP:rs12157714</li><li>A->T at 730: in dbSNP:rs35331092</li>									<li>rs35331092</li><li>rs12157714</li><li>rs11549978</li>	2
O95704			<li>G->R at 165: in dbSNP:rs7715021</li><li>R->C at 231: in dbSNP:rs250430</li>									<li>rs250430</li><li>rs7715021</li>	2
O95711	9450		<li>S->P at 93: in dbSNP:rs5743649</li><li>Y->C at 121: in dbSNP:rs5743651</li><li>M->V at 160: in dbSNP:rs1802323</li>									<li>rs5743651</li><li>rs1802323</li><li>rs5743649</li>	2
O95716	9545		<li>V->I at 64: in dbSNP:rs3969860</li>									rs3969860	2
O95718	2103		<li>A->V at 110: in DFNB35, MIM: 608565</li><li>L->P at 320: in DFNB35, MIM: 608565</li><li>V->L at 342: in DFNB35, MIM: 608565</li><li>L->P at 347: in DFNB35, MIM: 608565</li><li>P->S at 386: in dbSNP rsrs61742642, MIM: 608565</li><li>T->M at 389: in DFNB35; uncertain pathological significance, MIM: 608565</li>								Non-syndromic sensorineural deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	rs61742642	2
O95727	56253		<li>E->A at 16: in dbSNP:rs35411582</li><li>A->D at 78: in dbSNP:rs34397316</li><li>D->G at 173: in dbSNP:rs35136295</li><li>K->R at 321: in dbSNP:rs2272094</li><li>A->G at 368: in dbSNP:rs1916036</li>									<li>rs2272094</li><li>rs34397316</li><li>rs1916036</li><li>rs35136295</li><li>rs35411582</li>	2
O95755	9609		<li>P->L at 50: in dbSNP:rs9624036</li><li>N->D at 308: in dbSNP:rs5759612</li><li>E->K at 320: in dbSNP:rs9624038</li>									<li>rs5759612</li><li>rs9624038</li><li>rs9624036</li>	2
O95757	22824		<li>S->L at 211: in dbSNP:rs1380154</li><li>N->T at 216: in dbSNP:rs12507229</li>									<li>rs1380154</li><li>rs12507229</li>	2
O95759	11138		<li>T->A at 74: in dbSNP:rs2289953</li><li>G->R at 711: in dbSNP:rs1062062</li><li>R->G at 836: in dbSNP:rs746924</li><li>M->V at 865: in dbSNP:rs3739011</li>									<li>rs746924</li><li>rs3739011</li><li>rs1062062</li><li>rs2289953</li>	2
O95760	90865		<li>I->M at 263: in dbSNP:rs16924241</li>									rs16924241	2
O95780	91120		<li>V->M at 65: in dbSNP:rs7255165</li><li>T->I at 209: in dbSNP:rs2075090</li><li>V->I at 450: in dbSNP:rs17679334</li>									<li>rs17679334</li><li>rs2075090</li><li>rs7255165</li>	2
O95789	9204		<li>K->R at 660: in dbSNP:rs10158256</li><li>E->K at 1233: in dbSNP:rs16837147</li>									<li>rs16837147</li><li>rs10158256</li>	2
O95800	10936		<li>A->T at 116: in dbSNP:rs34000641</li><li>C->G at 160: in dbSNP:rs35349235</li><li>L->V at 433: in dbSNP:rs3731969</li>									<li>rs3731969</li><li>rs35349235</li><li>rs34000641</li>	2
O95801	7268		<li>S->T at 47: in dbSNP:rs1147990</li>									rs1147990	2
O95803	9348		<li>H->Q at 264: in a colorectal cancer sample; somatic mutation</li>										2
O95807	23585		<li>A->V at 58: in dbSNP:rs3093647</li><li>F->L at 141</li>									rs3093647	2
O95810	8436		<li>E->D at 130: in dbSNP:rs35012125</li>									rs35012125	2
O95813	9350		<li>R->W at 19: in dbSNP:rs10115703</li><li>A->G at 65: in dbSNP:rs3747532</li><li>V->I at 179: in dbSNP:rs7036635</li>									<li>rs10115703</li><li>rs3747532</li><li>rs7036635</li>	2
O95817	9531		<li>R->Q at 71: in dbSNP:rs35434411</li><li>C->R at 151: in dbSNP:rs2234962</li><li>A->V at 405: in dbSNP:rs11199064</li><li>P->L at 407: in dbSNP:rs3858340</li>									<li>rs35434411</li><li>rs2234962</li><li>rs3858340</li><li>rs11199064</li>	2
O95819	9448		<li>S->T at 712: in dbSNP rsrs56048147</li>									rs56048147	2
O95825	9946		<li>A->T at 39: in dbSNP:rs13050238</li>									rs13050238	2
O95833	9022		<li>P->H at 38: in dbSNP:rs2292923</li>									rs2292923	2
O95834	24139		<li>M->V at 33: in dbSNP:rs12151009</li><li>L->F at 187: in dbSNP:rs7252175</li><li>E->D at 235: in dbSNP:rs1545040</li><li>R->H at 357: in dbSNP:rs3816045</li><li>V->L at 484: in a colorectal cancer sample; somatic mutation</li>									<li>rs1545040</li><li>rs7252175</li><li>rs3816045</li><li>rs12151009</li>	2
O95838	9340		<li>H->L at 22: in dbSNP:rs8072568</li><li>D->N at 470: in dbSNP:rs17681684</li><li>R->H at 523: in dbSNP:rs16958918</li>									<li>rs8072568</li><li>rs17681684</li><li>rs16958918</li>	2
O95847	9481		<li>I->T at 197: in dbSNP:rs35884480</li>									rs35884480	2
O95863	6615		<li>V->A at 118: in dbSNP:rs4647958</li>									rs4647958	2
O95867	80740		<li>L->M at 63: in dbSNP:rs13214568</li>									rs13214568	2
O95868	58530		<li>L->V at 9: in dbSNP:rs3749952</li><li>S->T at 34: in dbSNP:rs9267550</li>									<li>rs3749952</li><li>rs9267550</li>	2
O95872	7918		<li>R->L at 41: in dbSNP:rs3130618</li><li>A->V at 112: in dbSNP:rs35265780</li><li>S->A at 210: in dbSNP:rs34082689</li><li>A->V at 235: in dbSNP:rs2295666</li>									<li>rs34082689</li><li>rs35265780</li><li>rs2295666</li><li>rs3130618</li>	2
O95873	57827		<li>R->G at 68: in dbSNP rsrs3130617</li>									rs3130617	2
O95876	51057		<li>G->S at 268: in dbSNP:rs17617459</li>									rs17617459	2
O95897	93145		<li>T->M at 86: in a colorectal cancer sample; somatic mutation</li><li>R->Q at 106: in dbSNP:rs2303100</li><li>T->M at 127: in dbSNP:rs11556087</li>									<li>rs11556087</li><li>rs2303100</li>	2
O95900	26995		<li>P->L at 79: in dbSNP:rs2231630</li><li>V->L at 93: in dbSNP:rs2072394</li><li>T->S at 209: in dbSNP:rs2231637</li>									<li>rs2231637</li><li>rs2072394</li><li>rs2231630</li>	2
O95905	11319		<li>R->Q at 45: in dbSNP:rs3812619</li><li>R->G at 281: could be a rare polymorphism</li><li>E->Q at 452: in dbSNP:rs3736518</li><li>N->S at 501: in dbSNP:rs36152134</li><li>D->G at 634: in dbSNP:rs2271904</li>									<li>rs3812619</li><li>rs3736518</li><li>rs36152134</li><li>rs2271904</li>	2
O95907	23539		<li>V->A at 405: in dbSNP:rs2076371</li>									rs2076371	2
O95918			<li>F->I at 30: in dbSNP:rs3129034</li><li>F->S at 30</li><li>A->V at 48: in dbSNP:rs1233387</li><li>T->A at 220</li>									<li>rs1233387</li><li>rs3129034</li>	2
O95922	25809		<li>S->L at 168: in dbSNP:rs6003030</li>									rs6003030	2
O95925	57119		<li>H->R at 92: in dbSNP:rs2231838</li><li>K->T at 128: in dbSNP:rs2231839</li>									<li>rs2231839</li><li>rs2231838</li>	2
O95932	343641		<li>M->V at 58: in dbSNP:rs2076405</li>									rs2076405	2
O95935	9096		<li>G->R at 48: in dbSNP:rs172562</li>									rs172562	2
O95936	8320		<li>E->Q at 667: in a breast cancer sample; somatic mutation</li>										2
O95944	9436		<li>M->V at 75: in dbSNP:rs9471577</li><li>P->S at 139: in dbSNP:rs2236369</li><li>I->K at 218: in dbSNP:rs2273961</li><li>V->M at 223: in dbSNP:rs2273962</li>									<li>rs2236369</li><li>rs2273962</li><li>rs2273961</li><li>rs9471577</li>	2
O95947	6911		<li>S->F at 178: in dbSNP:rs12925839</li><li>P->S at 179: in dbSNP:rs12925838</li>									<li>rs12925839</li><li>rs12925838</li>	2
O95954	10841		<li>R->C at 135: in glutamate formiminotransferase deficiency; mild phenotype; 61% wild-type activity: in dbSNP rsrs28941768, MIM: 229100</li><li>R->P at 299: in glutamate formiminotransferase deficiency; mild phenotype; 57% wild-type activity, MIM: 229100</li><li>A->E at 438, MIM: 229100</li>							<li>O88618</li><li>P53603</li><li>Q91XD4</li><li>O95954</li>	Glutamate formiminotransferase deficiency [MIM:229100]	rs28941768	2
O95965	9358		<li>A->S at 154: in dbSNP:rs1140605</li>									rs1140605	2
O95967			<li>E->K at 57: in CL type I, MIM: 219100</li><li>I->V at 259: in dbSNP:rs601314, MIM: 219100</li>								Autosomal recessive cutis laxa type I (CL type I) [MIM:219100]	rs601314	2
O95969	10647		<li>P->L at 53: in dbSNP:rs2232950</li><li>V->A at 80: in dbSNP:rs2276427</li>									<li>rs2232950</li><li>rs2276427</li>	2
O95970	9211		<li>L->R at 26: in ADLTE; probably affects signal sequence processing and secretion, MIM: 600512</li><li>C->G at 42: in ADLTE, MIM: 600512</li><li>C->R at 46: in ADLTE, MIM: 600512</li><li>F->C at 318: in ADLTE: in dbSNP rsrs28939075, MIM: 600512</li><li>E->A at 383: in ADLTE: in dbSNP rsrs28937874, MIM: 600512</li><li>S->L at 473: in ADLTE, MIM: 600512</li>	secretion	GO:0046903						Lateral temporal lobe epilepsy autosomal dominant (ADLTE) [MIM:600512]	<li>rs28939075</li><li>rs28937874</li>	2
O95971	11126		<li>I->V at 91: in dbSNP:rs2231373</li>									rs2231373	2
O95972			<li>Y->C at 235: in ODG2; dominant-negative effect; may cause relevant modifications in the conformation of the precursor protein possibly leading to altered processing and impaired activation of latent forms or to abnormal dimerization, MIM: 300510</li>								Ovarian dysgenesis 2 (ODG2) [MIM:300510]		2
O95976	10261		<li>Q->R at 74: in dbSNP:rs17851574</li><li>F->S at 173: in dbSNP:rs2290612</li><li>N->K at 186: in dbSNP:rs1134034</li>									<li>rs17851574</li><li>rs1134034</li><li>rs2290612</li>	2
O95977	8698		<li>R->L at 365: in dbSNP:rs3746072</li>									rs3746072	2
O95980	8434		<li>V->I at 275: in dbSNP:rs16932912</li>									rs16932912	2
O95985	8940		<li>D->N at 365: in dbSNP:rs9610728</li>									rs9610728	2
O95988	9623		<li>G->R at 93: in dbSNP:rs1064017</li>									rs1064017	2
O95990	11170		<li>L->M at 15: in ovarian cancer and renal cell carcinoma cell lines</li><li>P->L at 19: in renal cell carcinoma cell line</li><li>A->S at 89: in dbSNP:rs1043942</li><li>E->Q at 141: in dbSNP:rs11539086</li>									<li>rs11539086</li><li>rs1043942</li>	2
O95992	9023		<li>L->P at 133: in dbSNP:rs17117295</li>									rs17117295	2
O95995	2622		<li>E->K at 199: in dbSNP:rs868044</li><li>R->Q at 259: in dbSNP:rs17178299</li>									<li>rs868044</li><li>rs17178299</li>	2
O95996	10297		<li>A->S at 562: in a breast cancer sample; somatic mutation</li><li>G->S at 2003: in a breast cancer sample; somatic mutation</li><li>S->A at 2241: in dbSNP:rs265277</li>									rs265277	2
O95998	10068		<li>R->Q at 119: in dbSNP:rs5743673</li><li>S->C at 195: in dbSNP:rs5743674</li>									<li>rs5743674</li><li>rs5743673</li>	2
O96001	10842		<li>L->R at 10: in dbSNP:rs36047130</li><li>V->L at 12: in dbSNP:rs3735422</li>									<li>rs36047130</li><li>rs3735422</li>	2
O96002	9142		<li>S->A at 36: in dbSNP:rs3752359</li>									rs3752359	2
O96007	4338		<li>T->A at 50: in dbSNP:rs2233213</li><li>T->A at 77: in dbSNP:rs2233215</li><li>H->Y at 123: in dbSNP:rs2233218</li><li>E->K at 168: in MOCOD type B, MIM: 252150</li><li>N->S at 187: in dbSNP:rs2233221, MIM: 252150</li>							P02854	Molybdenum cofactor deficiency type B (MOCOD type B) [MIM:252150]	<li>rs2233213</li><li>rs2233221</li><li>rs2233215</li><li>rs2233218</li>	2
O96009	9476		<li>I->T at 40: in dbSNP:rs676314</li><li>A->T at 310: in dbSNP:rs11670727</li>									<li>rs11670727</li><li>rs676314</li>	2
O96013	10298		<li>R->Q at 135: in dbSNP rsrs56099436</li><li>A->T at 139: in dbSNP rsrs35655056</li>									<li>rs35655056</li><li>rs56099436</li>	2
O96018	9546		<li>W->L at 154: in dbSNP:rs35932323</li><li>K->T at 276: in dbSNP:rs3746119</li><li>C->R at 376: in dbSNP:rs8102086</li><li>I->F at 527: in dbSNP:rs1045236</li>									<li>rs1045236</li><li>rs3746119</li><li>rs35932323</li><li>rs8102086</li>	2
O96033	4338		<li>V->F at 7: in MOCOD type B; in a patient with mild form of the disease; impairs interaction with MOCS2B, MIM: 252150</li><li>V->A at 51: in dbSNP:rs2233210, MIM: 252150</li>							<li>P02854</li><li>Q9Z223</li><li>O96007</li>	Molybdenum cofactor deficiency type B (MOCOD type B) [MIM:252150]	rs2233210	2
P00156	4519		<li>I->T at 7</li><li>N->S at 8</li><li>F->L at 18</li><li>G->S at 34: in mitochondrial myopathy; sporadic</li><li>S->P at 35: in exercice intolerance; with cardiomyopathy and septo-optic dysplasia</li><li>A->T at 39</li><li>A->V at 39</li><li>I->T at 78</li><li>I->V at 78</li><li>R->H at 80: in colorectal cancer</li><li>A->P at 87</li><li>A->T at 122</li><li>T->A at 123</li><li>S->P at 151: in exercise intolerance</li><li>I->T at 153</li><li>I->V at 164</li><li>G->E at 166: in hyperthrophic cardiomyopathy</li><li>D->N at 171: in LHON; secondary mutation; does not seem to directly cause the disease, MIM: 535000</li><li>IA->VT at 189-190, MIM: 535000</li><li>A->T at 191, MIM: 535000</li><li>T->A at 194, MIM: 535000</li><li>A->T at 229, MIM: 535000</li><li>L->I at 236, MIM: 535000</li><li>Missing  at 251-258: in mitochondrial myopathy; sporadic, MIM: 535000</li><li>G->D at 251: in CMIH, MIM: 500000</li><li>G->S at 251: associated with susceptibility to obesity, MIM: 500000</li><li>N->H at 255: in cardiomyopathy; fatal; post-partum, MIM: 500000</li><li>N->D at 260, MIM: 500000</li><li>F->L at 276: in colorectal cancer, MIM: 500000</li><li>Y->C at 278: in multisystem disorder, MIM: 500000</li><li>G->D at 290: in exercise intolerance, MIM: 500000</li><li>I->T at 306, MIM: 500000</li><li>M->T at 316, MIM: 500000</li><li>A->T at 329, MIM: 500000</li><li>A->T at 330, MIM: 500000</li><li>I->V at 334, MIM: 500000</li><li>G->E at 339: in mitochondrial myopathy, MIM: 500000</li><li>V->M at 353, MIM: 500000</li><li>V->M at 356: in LHON; secondary mutation; does not seem to directly cause the disease, MIM: 535000</li><li>T->A at 360, MIM: 535000</li><li>T->I at 368, MIM: 535000</li>								<li>Cardiomyopathy infantile histiocytoid (CMIH) [MIM:500000]</li><li>Leber hereditary optic neuropathy (LHON) [MIM:535000]</li>		2
P00325	125		<li>R->H at 48: in beta-2; allele ADH1B*2; common in Asian populations; associated with a lower risk of alcoholism: in dbSNP rsrs1229984</li><li>N->K at 57: in dbSNP:rs1041969</li><li>T->S at 60: in dbSNP:rs6413413</li><li>R->C at 370: in beta-3/Indianapolis; allele ADH1B*3; decreased NAD: in dbSNP rsrs2066702</li>							<li>Q5R1W2</li><li>P14139</li><li>P00325</li>		<li>rs6413413</li><li>rs1229984</li><li>rs2066702</li><li>rs1041969</li>	2
P00326	126		<li>R->H at 48: in dbSNP:rs35385902</li><li>P->S at 166: in dbSNP rsrs34195308</li><li>R->Q at 272: in allele ADH3*2/gamma-2; dbSNP:rs1693482</li><li>I->V at 350: in allele ADH3*2/gamma-2; dbSNP:rs698</li><li>P->T at 352: in dbSNP:rs35719513</li>							<li>O97959</li><li>Q24857</li><li>P10848</li><li>O19053</li><li>P49384</li><li>P07246</li><li>P00326</li><li>P19631</li><li>P14675</li><li>P02528</li>		<li>rs34195308</li><li>rs35719513</li><li>rs698</li><li>rs35385902</li><li>rs1693482</li>	2
P00338	3939		<li>K->E at 222</li><li>R->C at 315: in LDHA deficiency</li>							<li>P00341</li><li>Q92055</li><li>O93541</li><li>O93540</li><li>O93543</li><li>O93542</li><li>O93545</li><li>O93544</li><li>O13278</li><li>P13491</li><li>O13277</li><li>O13276</li><li>O93546</li><li>Q9PW07</li><li>Q9W7M6</li><li>Q9PW06</li><li>Q9W7K5</li><li>Q9PW61</li><li>Q9BE24</li><li>Q9XT87</li><li>P69082</li><li>P69081</li><li>P69080</li><li>P00338</li><li>P00339</li><li>P19858</li><li>Q5R1W9</li><li>Q9W7L3</li><li>O93401</li><li>P69086</li><li>P69085</li><li>P69084</li><li>P69083</li><li>O93539</li><li>O93537</li><li>Q5R5F0</li><li>O93538</li><li>Q9W7L5</li><li>Q9P4B6</li><li>Q98SL2</li><li>Q98SL0</li><li>Q9PT43</li><li>P79912</li><li>Q9PW58</li><li>P00340</li>			2
P00352	216		<li>N->S at 121: in dbSNP:rs1049981</li><li>G->R at 125: in dbSNP:rs11554423</li><li>I->F at 177: in dbSNP:rs8187929</li>									<li>rs1049981</li><li>rs8187929</li><li>rs11554423</li>	2
P00387	1727		<li>R->Q at 58: in HM; type 1; 62% of activity, MIM: 250800</li><li>S->P at 66: in dbSNP:rs1130706, MIM: 250800</li><li>L->P at 73: in HM; type 1, MIM: 250800</li><li>V->M at 106: in HM; type 1; 77% of activity, MIM: 250800</li><li>T->S at 117: in dbSNP:rs1800457, MIM: 250800</li><li>S->P at 128: in HM; type 2; Hiroshima, MIM: 250800</li><li>L->P at 149: in HM; type 3, MIM: 250800</li><li>A->V at 179: in HM; type 1, MIM: 250800</li><li>C->R at 204: in HM; type 2, MIM: 250800</li><li>C->Y at 204: in HM; type 1, MIM: 250800</li><li>Missing  at 256: in HM; type 1; retains approximately 38% of residual diaphorase activity, MIM: 250800</li><li>Missing  at 273: in HM; type 2, MIM: 250800</li><li>G->D at 292: in HM; type 1; retains approximately 58% of residual diaphorase activity, MIM: 250800</li><li>Missing  at 299: in HM; type2; almost complete loss of activity, MIM: 250800</li>								Hereditary methemoglobinemia (HM) [MIM:250800]	<li>rs1800457</li><li>rs1130706</li>	2
P00390	2936		<li>R->C at 153: in dbSNP:rs8190955</li><li>G->R at 232: in dbSNP:rs8190976</li><li>G->S at 232</li><li>I->V at 261: in dbSNP:rs8190997</li><li>E->D at 297: in dbSNP:rs8191004</li><li>P->H at 314: in dbSNP:rs2020916</li>									<li>rs8191004</li><li>rs8190976</li><li>rs8190955</li><li>rs8190997</li><li>rs2020916</li>	2
P00395	4512		<li>T->A at 10</li><li>F->C at 94</li><li>S->F at 142: in COX deficiency; significant decrease in enzyme activity, MIM: 220110</li><li>V->L at 155, MIM: 220110</li><li>L->I at 196: in COX deficiency, MIM: 220110</li><li>G->A at 224, MIM: 220110</li><li>F->S at 235, MIM: 220110</li><li>M->T at 273: in AISA, MIM: 516030</li><li>I->T at 280: in AISA, MIM: 516030</li><li>F->L at 305, MIM: 516030</li><li>T->A at 415, MIM: 516030</li><li>S->SKQK at 513: in LHON; secondary mutation; does not seem to directly cause the disease, MIM: 516030</li>							<li>P36552</li><li>P36551</li><li>Q9UTE2</li><li>Q9V3D2</li><li>P11353</li>	<li>Acquired idiopathic sidereoblastic anemia (AISA) [MIM:516030]</li><li>Cytochrome c oxidase deficiency (COX deficiency) [MIM:220110]</li>		2
P00403	4513		<li>D->A at 11</li><li>M->K at 29: in COX deficiency; affect the stability of the COX complex, MIM: 220110</li><li>I->V at 30, MIM: 220110</li><li>L->P at 123, MIM: 220110</li><li>V->M at 142: in colorectal cancer, MIM: 220110</li><li>A->T at 148, MIM: 220110</li><li>T->M at 187, MIM: 220110</li>							<li>P36552</li><li>P36551</li><li>Q9UTE2</li><li>Q9V3D2</li><li>P11353</li>	Cytochrome c oxidase deficiency (COX deficiency) [MIM:220110]		2
P00414			<li>H->R at 3</li><li>F->S at 35</li><li>G->S at 78: in LHON; secondary mutation; does not seem to directly cause the disease, MIM: 535000</li><li>V->I at 91, MIM: 535000</li><li>Missing  at 94-98: in COX deficiency; with recurrent myoglobinuria, MIM: 535000</li><li>Q->R at 177, MIM: 535000</li><li>A->T at 200: in LHON; possible rare primary mutation, MIM: 535000</li><li>F->L at 251: in a patient with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes, MIM: 535000</li><li>V->I at 254, MIM: 535000</li>							<li>P36552</li><li>P36551</li><li>Q9UTE2</li><li>Q9V3D2</li><li>P11353</li>	Leber hereditary optic neuropathy (LHON) [MIM:535000]		2
P00439	5053		<li>S->P at 16: in PKU, MIM: 261600</li><li>Q->L at 20: in HPA, MIM: 261600</li><li>F->L at 39: in PKU; haplotype 1, MIM: 261600</li><li>Missing  at 39: in PKU; haplotypes 9,21, MIM: 261600</li><li>S->L at 40: in PKU, MIM: 261600</li><li>L->F at 41: in PKU, MIM: 261600</li><li>L->P at 41: in PKU; mild, MIM: 261600</li><li>K->I at 42: in PKU; haplotype 21, MIM: 261600</li><li>G->S at 46: in PKU; haplotype 5; significantly reduces phenylalanine binding, MIM: 261600</li><li>A->V at 47: in non-PKU HPA; haplotype 4; significantly reduces phenylalanine binding, MIM: 261600</li><li>L->S at 48: in PKU; mild; haplotypes 3,4: in dbSNP rsrs5030841, MIM: 261600</li><li>R->H at 53: in PKU, MIM: 261600</li><li>F->L at 55: in PKU, MIM: 261600</li><li>E->D at 56: in PKU; haplotype 10, MIM: 261600</li><li>TH->PN at 63-64: in PKU; haplotype 1; abolishes phenylalanine binding, MIM: 261600</li><li>I->N at 65: in PKU, MIM: 261600</li><li>I->T at 65: in PKU; haplotypes 1,5,9,21,B; abolishes phenylalanine binding, MIM: 261600</li><li>S->P at 67: in PKU; haplotype 4: in dbSNP rsrs5030842, MIM: 261600</li><li>R->S at 68: in PKU; haplotype 1; significantly reduces phenylalanine binding, MIM: 261600</li><li>E->A at 76: in PKU, MIM: 261600</li><li>D->Y at 84: in PKU; haplotype 4, MIM: 261600</li><li>S->R at 87: in non-PKU HPA; haplotype 1, MIM: 261600</li><li>T->I at 92: in PKU, MIM: 261600</li><li>Missing  at 94: in PKU; mild; haplotype 2, MIM: 261600</li><li>L->S at 98: in non-PKU HPA, MIM: 261600</li><li>A->D at 104: in PKU; mild; haplotype 1, MIM: 261600</li><li>S->C at 110: in HPA, MIM: 261600</li><li>T->I at 124: in PKU; haplotype 28, MIM: 261600</li><li>D->Y at 129: in PKU, MIM: 261600</li><li>D->G at 143: in PKU; haplotype 11, MIM: 261600</li><li>D->V at 145: in PKU, MIM: 261600</li><li>H->Y at 146: in PKU, MIM: 261600</li><li>G->S at 148: in PKU; haplotypes 1,2,7, MIM: 261600</li><li>D->H at 151: in PKU; haplotypes 1,8, MIM: 261600</li><li>Y->N at 154: in PKU, MIM: 261600</li><li>R->P at 155: in PKU, MIM: 261600</li><li>R->N at 157: in PKU; severe; 5% activity; requires 2 nucleotide substitutions, MIM: 261600</li><li>R->Q at 158: in PKU; haplotypes 1,2,4,7,16, 28: in dbSNP rsrs5030843, MIM: 261600</li><li>R->W at 158: in PKU, MIM: 261600</li><li>Q->P at 160: in PKU, MIM: 261600</li><li>F->S at 161: in PKU; haplotype 4, MIM: 261600</li><li>I->T at 164: in PKU; haplotype 1, MIM: 261600</li><li>N->I at 167: in PKU, MIM: 261600</li><li>N->S at 167: in HPA, MIM: 261600</li><li>R->H at 169: in PKU, MIM: 261600</li><li>H->D at 170: in HPA, MIM: 261600</li><li>H->R at 170: in PKU, MIM: 261600</li><li>G->A at 171: in PKU; haplotype 1, MIM: 261600</li><li>G->R at 171: in PKU, MIM: 261600</li><li>P->T at 173: in PKU; haplotype 4, MIM: 261600</li><li>I->T at 174: in PKU; haplotype 1, MIM: 261600</li><li>I->V at 174: in PKU, MIM: 261600</li><li>P->A at 175: in PKU, MIM: 261600</li><li>R->L at 176: in non-PKU HPA, MIM: 261600</li><li>R->P at 176: in PKU, MIM: 261600</li><li>V->L at 177: in PKU; haplotype 6, MIM: 261600</li><li>E->G at 178: in non-PKU HPA, MIM: 261600</li><li>E->Q at 183: in PKU, MIM: 261600</li><li>V->A at 190: in PKU; haplotype 3, MIM: 261600</li><li>L->P at 194: in PKU: in dbSNP rsrs5030844, MIM: 261600</li><li>Missing  at 194: in PKU, MIM: 261600</li><li>Missing  at 197: in PKU, MIM: 261600</li><li>Missing  at 198: in PKU; haplotype 2, MIM: 261600</li><li>H->R at 201: in PKU, MIM: 261600</li><li>H->Y at 201: in non-PKU HPA; haplotype 1, MIM: 261600</li><li>Y->C at 204: in PKU; mild; haplotypes 3,4, MIM: 261600</li><li>E->A at 205: in PKU, MIM: 261600</li><li>Y->D at 206: in PKU, MIM: 261600</li><li>N->D at 207: in PKU, MIM: 261600</li><li>N->S at 207: in PKU; severe; haplotype 4, MIM: 261600</li><li>P->T at 211: in PKU; haplotype 4, MIM: 261600</li><li>L->P at 212: in PKU, MIM: 261600</li><li>L->P at 213: in PKU; severe, MIM: 261600</li><li>C->G at 217: in PKU, MIM: 261600</li><li>G->V at 218: in PKU; haplotypes 1,2, MIM: 261600</li><li>E->G at 221: in PKU; haplotype 4, MIM: 261600</li><li>D->V at 222: in PKU; haplotypes 3,4, MIM: 261600</li><li>I->M at 224: in PKU; haplotype 4, MIM: 261600</li><li>P->R at 225: in PKU, MIM: 261600</li><li>P->T at 225: in PKU; haplotype 1, MIM: 261600</li><li>V->I at 230: in non-PKU HPA; haplotype 4, MIM: 261600</li><li>S->F at 231: in PKU, MIM: 261600</li><li>S->P at 231: in PKU: in dbSNP rsrs5030845, MIM: 261600</li><li>F->L at 233: in PKU; haplotypes 2,3, MIM: 261600</li><li>T->P at 238: in PKU; haplotype 4, MIM: 261600</li><li>G->S at 239: in PKU, MIM: 261600</li><li>F->S at 240: in PKU, MIM: 261600</li><li>R->C at 241: in non-PKU HPA and PKU; haplotype 34, MIM: 261600</li><li>R->H at 241: in PKU; haplotypes 1,5, MIM: 261600</li><li>R->L at 241: in PKU, MIM: 261600</li><li>L->F at 242: in PKU, MIM: 261600</li><li>R->Q at 243: in non-PKU HPA and PKU; haplotypes 4,7,9, MIM: 261600</li><li>P->L at 244: in PKU; haplotype 12, MIM: 261600</li><li>V->A at 245: in non-PKU HPA; haplotypes 3,7, MIM: 261600</li><li>V->E at 245: in PKU; haplotype 11, MIM: 261600</li><li>V->L at 245: in PKU, MIM: 261600</li><li>A->D at 246: in PKU, MIM: 261600</li><li>G->V at 247: in PKU; haplotype 4, MIM: 261600</li><li>L->P at 248: in PKU, MIM: 261600</li><li>L->F at 249: in PKU; haplotype 1, MIM: 261600</li><li>R->G at 252: in PKU; haplotype 7, MIM: 261600</li><li>R->Q at 252: in PKU; haplotype 1, MIM: 261600</li><li>R->W at 252: in PKU; haplotypes 1,6,7,8,42, 69; complete loss of activity: in dbSNP rsrs5030847, MIM: 261600</li><li>L->S at 255: in PKU; haplotype 36, MIM: 261600</li><li>L->V at 255: in PKU; haplotypes 18,21, MIM: 261600</li><li>G->C at 257: in PKU: in dbSNP rsrs5030848, MIM: 261600</li><li>A->T at 259: in PKU; haplotype 3, MIM: 261600</li><li>A->V at 259: in PKU; haplotypes 7,42: in dbSNP rsrs28934900, MIM: 261600</li><li>R->P at 261: in PKU, MIM: 261600</li><li>R->Q at 261: in PKU; mild; haplotypes 1,2,4,22, 24,28; dbSNP:rs5030849, MIM: 261600</li><li>F->L at 263: in PKU, MIM: 261600</li><li>H->L at 264: in PKU, MIM: 261600</li><li>C->G at 265: in PKU, MIM: 261600</li><li>I->L at 269: in non-PKU HPA, MIM: 261600</li><li>R->K at 270: in PKU, MIM: 261600</li><li>R->S at 270: in PKU; haplotype 1, MIM: 261600</li><li>H->Y at 271: in PKU, MIM: 261600</li><li>S->F at 273: in PKU; haplotype 7, MIM: 261600</li><li>K->E at 274, MIM: 261600</li><li>M->I at 276: in PKU, MIM: 261600</li><li>M->V at 276: in PKU; haplotype 4, MIM: 261600</li><li>Y->C at 277: in PKU, MIM: 261600</li><li>Y->D at 277: in PKU; haplotype 2: in dbSNP rsrs28934276, MIM: 261600</li><li>T->A at 278: in PKU, MIM: 261600</li><li>T->N at 278: in PKU, MIM: 261600</li><li>E->K at 280: in PKU; haplotypes 1,2,4,16,38; partial residual activity, MIM: 261600</li><li>P->L at 281: in PKU; haplotypes 1,4: in dbSNP rsrs5030851, MIM: 261600</li><li>D->N at 282: in PKU; haplotype 1, MIM: 261600</li><li>I->F at 283: in PKU; haplotype 21, MIM: 261600</li><li>I->N at 283: in PKU; severe, MIM: 261600</li><li>R->C at 297: in PKU; haplotype 4, MIM: 261600</li><li>R->H at 297: in PKU, MIM: 261600</li><li>F->C at 299: in PKU; haplotype 8, MIM: 261600</li><li>A->S at 300: in PKU; haplotype 1: in dbSNP rsrs5030853, MIM: 261600</li><li>A->V at 300: in PKU, MIM: 261600</li><li>S->P at 303: in PKU; haplotype 5, MIM: 261600</li><li>Q->R at 304: in PKU, MIM: 261600</li><li>I->V at 306: in non-PKU HPA; haplotype 4, MIM: 261600</li><li>A->D at 309: in PKU; haplotype 7, MIM: 261600</li><li>A->V at 309: in PKU, MIM: 261600</li><li>S->F at 310: in PKU; haplotype 7, MIM: 261600</li><li>L->P at 311: in PKU; haplotypes 1,7,10, MIM: 261600</li><li>P->H at 314: in PKU, MIM: 261600</li><li>I->T at 318: in PKU; partial loss of activity, MIM: 261600</li><li>A->G at 322: in PKU; haplotype 12, MIM: 261600</li><li>A->T at 322: in PKU; haplotype 1, MIM: 261600</li><li>Y->C at 325: in PKU, MIM: 261600</li><li>E->D at 330: in PKU, MIM: 261600</li><li>F->L at 331: in PKU; haplotype 1, MIM: 261600</li><li>L->F at 333: in PKU, MIM: 261600</li><li>C->S at 334: in PKU, MIM: 261600</li><li>G->V at 337: in PKU, MIM: 261600</li><li>D->Y at 338: in PKU; haplotype 4, MIM: 261600</li><li>K->R at 341: in PKU, MIM: 261600</li><li>K->T at 341: in PKU, MIM: 261600</li><li>A->T at 342: in PKU; haplotype 5, MIM: 261600</li><li>Y->C at 343: in PKU, MIM: 261600</li><li>G->R at 344: in PKU, MIM: 261600</li><li>G->V at 344: in PKU, MIM: 261600</li><li>A->S at 345: in PKU, MIM: 261600</li><li>A->T at 345: in PKU; haplotype 7, MIM: 261600</li><li>L->F at 347: in PKU, MIM: 261600</li><li>L->V at 348: in PKU; mild haplotype 9, MIM: 261600</li><li>S->L at 349: in PKU; severe, MIM: 261600</li><li>S->P at 349: in PKU; haplotypes 1,4, MIM: 261600</li><li>S->T at 350: in PKU; haplotype 2, MIM: 261600</li><li>C->G at 357: in PKU, MIM: 261600</li><li>P->T at 362: in PKU, MIM: 261600</li><li>Missing  at 364-368: in PKU, MIM: 261600</li><li>Missing  at 364: in PKU; haplotype 5, MIM: 261600</li><li>P->H at 366: in PKU, MIM: 261600</li><li>T->S at 372: in PKU, MIM: 261600</li><li>Y->C at 377: in PKU; haplotype 4, MIM: 261600</li><li>T->M at 380: in non-PKU HPA; haplotype 4, MIM: 261600</li><li>Y->C at 386: in PKU; common mutation, MIM: 261600</li><li>Y->H at 387: in PKU; haplotype 1, MIM: 261600</li><li>V->L at 388: in PKU, MIM: 261600</li><li>V->M at 388: in PKU; haplotypes 1,4, MIM: 261600</li><li>E->G at 390: in non-PKU HPA; haplotype 4: in dbSNP rsrs5030856, MIM: 261600</li><li>D->A at 394: in PKU, MIM: 261600</li><li>D->H at 394: in PKU, MIM: 261600</li><li>A->G at 395: in PKU, MIM: 261600</li><li>A->P at 395: in PKU; haplotype 1, MIM: 261600</li><li>Missing  at 399-400: in PKU; haplotype 7, MIM: 261600</li><li>A->V at 403: in non-PKU HPA and PKU; haplotype 43: in dbSNP rsrs5030857, MIM: 261600</li><li>P->S at 407: in PKU, MIM: 261600</li><li>R->Q at 408: in PKU; haplotypes 4,12: in dbSNP rsrs5030859, MIM: 261600</li><li>R->W at 408: in PKU; haplotypes 1,2,4,5,13,34, 41,44; most common mutation: in dbSNP rsrs5030858, MIM: 261600</li><li>F->S at 410: in PKU; mild, MIM: 261600</li><li>R->P at 413: in non-PKU HPA and PKU; haplotype 4: in dbSNP rsrs28934899, MIM: 261600</li><li>R->S at 413: in PKU; haplotype 1, MIM: 261600</li><li>Y->C at 414: in PKU; haplotype 4: in dbSNP rsrs5030860, MIM: 261600</li><li>D->N at 415: in non-PKU HPA; haplotype 1, MIM: 261600</li><li>T->P at 418: in PKU; haplotype 4, MIM: 261600</li><li>L->P at 430: in PKU, MIM: 261600</li><li>A->D at 447: in PKU, MIM: 261600</li>			binding	GO:0005488			<li>O82030</li><li>Q9FEW2</li><li>Q9Y251</li><li>Q90YK5</li>	<li>Phenylketonuria (PKU) [MIM:261600]</li><li>Hyperphenylalaninemia (HPA) [MIM:261600]</li><li>Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]</li>	<li>rs5030857</li><li>rs5030856</li><li>rs5030859</li><li>rs5030858</li><li>rs5030849</li><li>rs5030848</li><li>rs5030847</li><li>rs5030845</li><li>rs28934276</li><li>rs28934899</li><li>rs28934900</li><li>rs5030841</li><li>rs5030860</li><li>rs5030842</li><li>rs5030843</li><li>rs5030844</li><li>rs5030853</li><li>rs5030851</li>	2
P00450	1356		<li>I->T at 63: retained in the ER due to impaired N-glycosylation; may present a vulnerability factor for iron induced oxidative stress in Parkinson disease</li><li>R->C at 367: in dbSNP:rs34624984</li><li>P->L at 477: in dbSNP:rs35331711</li><li>D->E at 544: reduced ferroxidase activity; may present a vulnerability factor for iron induced oxidative stress in Parkinson disease; dbSNP:rs701753</li><li>T->I at 551</li><li>R->H at 793</li><li>T->R at 841: in dbSNP rsrs56033670</li>					ER	GO:0005783	<li>Q61147</li><li>P13635</li><li>P00450</li><li>Q9XT27</li>		<li>rs701753</li><li>rs35331711</li><li>rs34624984</li><li>rs56033670</li>	2
P00451	2157		<li>S->R at 19: in HEMA, MIM: 306700</li><li>R->T at 22: in HEMA; severe, MIM: 306700</li><li>Y->C at 24: in HEMA, MIM: 306700</li><li>Y->C at 25: in HEMA; mild, MIM: 306700</li><li>L->P at 26: in HEMA; severe, MIM: 306700</li><li>L->R at 26: in HEMA; severe, MIM: 306700</li><li>E->V at 30: in HEMA; mild, MIM: 306700</li><li>W->G at 33: in HEMA; moderate, MIM: 306700</li><li>Y->C at 35: in HEMA; mild/severe, MIM: 306700</li><li>Y->H at 35: in HEMA; severe, MIM: 306700</li><li>G->C at 41: in HEMA; severe/moderate, MIM: 306700</li><li>R->C at 48: in HEMA; severe, MIM: 306700</li><li>R->K at 48: in HEMA, MIM: 306700</li><li>K->E at 67: in HEMA; severe, MIM: 306700</li><li>K->N at 67: in HEMA, MIM: 306700</li><li>L->P at 69: in HEMA; moderate-severe, MIM: 306700</li><li>E->K at 72: in HEMA; moderate, MIM: 306700</li><li>D->E at 75: in HEMA; moderate, MIM: 306700</li><li>D->V at 75: in dbSNP:rs1800288, MIM: 306700</li><li>D->Y at 75: in HEMA; moderate-severe, MIM: 306700</li><li>Missing  at 84-85: in HEMA; severe, MIM: 306700</li><li>Missing  at 85: in HEMA; moderate, MIM: 306700</li><li>G->D at 89: in HEMA; severe, MIM: 306700</li><li>G->V at 89: in HEMA; mild, MIM: 306700</li><li>G->A at 92: in HEMA, MIM: 306700</li><li>G->V at 92: in HEMA; mild: in dbSNP rsrs28935204, MIM: 306700</li><li>A->P at 97: in HEMA, MIM: 306700</li><li>E->K at 98: in HEMA; severe, MIM: 306700</li><li>V->D at 99: in HEMA; severe: in dbSNP rsrs28935205, MIM: 306700</li><li>D->G at 101: in HEMA; severe, MIM: 306700</li><li>D->H at 101: in HEMA; severe sporadic, MIM: 306700</li><li>D->V at 101: in HEMA, MIM: 306700</li><li>V->D at 104: in HEMA; mild: in dbSNP rsrs28935206, MIM: 306700</li><li>K->T at 108: in HEMA; mild: in dbSNP rsrs28935207, MIM: 306700</li><li>M->V at 110: in HEMA; moderate: in dbSNP rsrs28936083, MIM: 306700</li><li>A->T at 111: in HEMA; severe, MIM: 306700</li><li>A->V at 111: in HEMA; moderate, MIM: 306700</li><li>H->R at 113: in HEMA; mild, MIM: 306700</li><li>H->Y at 113: in HEMA, MIM: 306700</li><li>L->F at 117: in HEMA; mild, MIM: 306700</li><li>L->R at 117: in HEMA; severe: in dbSNP rsrs28935208, MIM: 306700</li><li>G->S at 121: in HEMA, MIM: 306700</li><li>E->V at 129: in HEMA; severe, MIM: 306700</li><li>G->R at 130: in HEMA; severe, MIM: 306700</li><li>E->D at 132: in HEMA; severe: in dbSNP rsrs28935209, MIM: 306700</li><li>Y->C at 133: in HEMA; mild: in dbSNP rsrs28935210, MIM: 306700</li><li>D->G at 135: in HEMA; severe: in dbSNP rsrs28935211, MIM: 306700</li><li>D->Y at 135: in HEMA; severe sporadic, MIM: 306700</li><li>T->A at 137: in HEMA; severe, MIM: 306700</li><li>T->I at 137: in HEMA; moderate, MIM: 306700</li><li>S->R at 138: in HEMA; mild, MIM: 306700</li><li>E->K at 141: in HEMA; severe familial, MIM: 306700</li><li>D->H at 145: in HEMA; moderate, MIM: 306700</li><li>V->D at 147: in HEMA; severe, MIM: 306700</li><li>Y->H at 155: in HEMA; moderate, MIM: 306700</li><li>V->A at 159: in HEMA; moderate, MIM: 306700</li><li>N->K at 163: in HEMA; moderate, MIM: 306700</li><li>G->D at 164: in HEMA; moderate, MIM: 306700</li><li>G->V at 164: in HEMA; mild: in dbSNP rsrs28935212, MIM: 306700</li><li>P->S at 165: in HEMA; severe: in dbSNP rsrs28935213, MIM: 306700</li><li>C->W at 172: in HEMA, MIM: 306700</li><li>S->P at 176: in HEMA, MIM: 306700</li><li>S->P at 179: in HEMA; moderate, MIM: 306700</li><li>V->E at 181: in HEMA; mild, MIM: 306700</li><li>V->M at 181: in HEMA; mild/moderate, MIM: 306700</li><li>K->T at 185: in HEMA; mild, MIM: 306700</li><li>D->G at 186: in HEMA; mild, MIM: 306700</li><li>D->Y at 186: in HEMA; severe, MIM: 306700</li><li>S->L at 189: in HEMA; moderate, MIM: 306700</li><li>G->R at 193: in HEMA; severe familial, MIM: 306700</li><li>C->G at 198: in HEMA; severe, MIM: 306700</li><li>S->N at 202: in HEMA; mild, MIM: 306700</li><li>S->R at 202: in HEMA; mild, MIM: 306700</li><li>F->V at 214: in HEMA, MIM: 306700</li><li>L->H at 217: in HEMA; moderate, MIM: 306700</li><li>A->D at 219: in HEMA, MIM: 306700</li><li>A->T at 219: in HEMA, MIM: 306700</li><li>V->G at 220: in HEMA; mild, MIM: 306700</li><li>D->V at 222: in HEMA; moderate, MIM: 306700</li><li>E->K at 223: in HEMA; severe, MIM: 306700</li><li>G->W at 224: in HEMA; moderate, MIM: 306700</li><li>T->I at 252: in HEMA; moderate, MIM: 306700</li><li>V->F at 253: in HEMA; severe, MIM: 306700</li><li>N->I at 254: in HEMA; severe, MIM: 306700</li><li>G->V at 255: in HEMA; severe, MIM: 306700</li><li>P->L at 262: in HEMA; moderate, MIM: 306700</li><li>G->S at 263: in HEMA, MIM: 306700</li><li>G->E at 266: in HEMA; severe, MIM: 306700</li><li>C->Y at 267: in HEMA; moderate, MIM: 306700</li><li>W->C at 274: in HEMA: in dbSNP rsrs34371500, MIM: 306700</li><li>H->L at 275: in HEMA; mild, MIM: 306700</li><li>G->R at 278: in HEMA; severe, MIM: 306700</li><li>E->K at 284: in HEMA; moderate, MIM: 306700</li><li>V->G at 285: in HEMA; mild, MIM: 306700</li><li>E->G at 291: in HEMA; mild, MIM: 306700</li><li>E->K at 291: in HEMA; mild, MIM: 306700</li><li>T->I at 294: in HEMA; moderate, MIM: 306700</li><li>F->L at 295: in HEMA; moderate, MIM: 306700</li><li>V->A at 297: in HEMA; mild, MIM: 306700</li><li>N->I at 299: in HEMA; mild: in dbSNP rsrs28935215, MIM: 306700</li><li>R->C at 301: in HEMA; severe/mild, MIM: 306700</li><li>R->H at 301: in HEMA; severe: in dbSNP rsrs28935216, MIM: 306700</li><li>R->L at 301: in HEMA; severe: in dbSNP rsrs28935216, MIM: 306700</li><li>Missing  at 302: in HEMA, MIM: 306700</li><li>A->E at 303: in HEMA; mild, MIM: 306700</li><li>A->P at 303: in HEMA; mild, MIM: 306700</li><li>I->S at 307: in HEMA; moderate, MIM: 306700</li><li>S->L at 308: in HEMA; moderate: in dbSNP rsrs28937268, MIM: 306700</li><li>F->S at 312: in HEMA; mild/moderate, MIM: 306700</li><li>T->A at 314: in HEMA; mild: in dbSNP rsrs28937269, MIM: 306700</li><li>T->I at 314: in HEMA; moderate, MIM: 306700</li><li>A->V at 315: in HEMA, MIM: 306700</li><li>Missing  at 320: in HEMA; severe, MIM: 306700</li><li>G->E at 323: in HEMA; severe, MIM: 306700</li><li>L->P at 326: in HEMA: in dbSNP rsrs28937270, MIM: 306700</li><li>L->P at 327: in HEMA; severe: in dbSNP rsrs28937270, MIM: 306700</li><li>L->V at 327: in HEMA; mild, MIM: 306700</li><li>C->F at 329: in HEMA, MIM: 306700</li><li>I->V at 331: in HEMA; mild, MIM: 306700</li><li>M->T at 339: in HEMA; moderate, MIM: 306700</li><li>E->K at 340: in HEMA, MIM: 306700</li><li>V->A at 345: in HEMA, MIM: 306700</li><li>V->L at 345: in HEMA; severe, MIM: 306700</li><li>C->R at 348: in HEMA; severe, MIM: 306700</li><li>C->S at 348: in HEMA; moderate, MIM: 306700</li><li>C->Y at 348: in HEMA; mild/severe, MIM: 306700</li><li>Y->C at 365: in HEMA; mild, MIM: 306700</li><li>R->C at 391: in HEMA; Okayama; moderate/severe; abolishes the normal cleavage by thrombin, MIM: 306700</li><li>R->H at 391: in HEMA; Kumamoto; mild/moderate; abolishes the normal cleavage by thrombin: in dbSNP rsrs28935499, MIM: 306700</li><li>R->P at 391: in HEMA; severe; abolishes the normal cleavage by thrombin, MIM: 306700</li><li>S->L at 392: in HEMA; mild; abolishes normal cleavage by thrombin: in dbSNP rsrs28933668, MIM: 306700</li><li>S->P at 392: in HEMA; mild; dbSNP:rs28933669, MIM: 306700</li><li>W->G at 401: in HEMA, MIM: 306700</li><li>I->F at 405: in HEMA, MIM: 306700</li><li>I->S at 405: in HEMA; severe; dbSNP:rs28933670, MIM: 306700</li><li>E->G at 409: in HEMA; severe/moderate; dbSNP:rs28933671, MIM: 306700</li><li>W->G at 412: in HEMA, MIM: 306700</li><li>W->R at 412: in HEMA; severe, MIM: 306700</li><li>K->I at 427: in HEMA; mild, MIM: 306700</li><li>L->F at 431: in HEMA; moderate: in dbSNP rsrs28933672, MIM: 306700</li><li>L->S at 431: in HEMA; moderate, MIM: 306700</li><li>R->P at 437: in HEMA; severe, MIM: 306700</li><li>R->W at 437: in HEMA; mild, MIM: 306700</li><li>I->F at 438: in HEMA; not severe, MIM: 306700</li><li>G->D at 439: in HEMA; severe, MIM: 306700</li><li>G->S at 439: in HEMA; moderate, MIM: 306700</li><li>G->V at 439: in HEMA; severe, MIM: 306700</li><li>Y->C at 442: in HEMA, MIM: 306700</li><li>K->R at 444: in HEMA; severe: in dbSNP rsrs28937272, MIM: 306700</li><li>Y->D at 450: in HEMA; severe, MIM: 306700</li><li>Y->N at 450: in HEMA; mild/moderate; dbSNP:rs28937273, MIM: 306700</li><li>T->I at 454: in HEMA; mild, MIM: 306700</li><li>F->C at 455: in HEMA; mild-moderate/severe, MIM: 306700</li><li>G->E at 466: in HEMA; severe sporadic, MIM: 306700</li><li>P->L at 470: in HEMA; mild, MIM: 306700</li><li>P->R at 470: in HEMA; mild, MIM: 306700</li><li>P->T at 470: in HEMA; mild sporadic, MIM: 306700</li><li>G->E at 474: in HEMA, MIM: 306700</li><li>G->R at 474: in HEMA; severe, MIM: 306700</li><li>E->K at 475: in HEMA; moderate, MIM: 306700</li><li>G->V at 477: in HEMA; moderate, MIM: 306700</li><li>D->N at 478: in HEMA, MIM: 306700</li><li>T->R at 479: in HEMA, MIM: 306700</li><li>F->C at 484: in HEMA, MIM: 306700</li><li>A->G at 488: in HEMA; moderate, MIM: 306700</li><li>R->G at 490: in HEMA, MIM: 306700</li><li>Y->C at 492: in HEMA; moderate: in dbSNP rsrs28937275, MIM: 306700</li><li>Y->H at 492: in HEMA; mild: in dbSNP rsrs28937274, MIM: 306700</li><li>I->T at 494: in HEMA; mild: in dbSNP rsrs28936968, MIM: 306700</li><li>G->R at 498: in HEMA; severe/moderate: in dbSNP rsrs28936969, MIM: 306700</li><li>R->H at 503: in HEMA: in dbSNP rsrs35383156, MIM: 306700</li><li>G->S at 513: in HEMA; moderate, MIM: 306700</li><li>I->Y at 522: in HEMA; requires 2 nucleotide substitutions, MIM: 306700</li><li>K->E at 529: in HEMA; moderate, MIM: 306700</li><li>W->G at 532: in HEMA, MIM: 306700</li><li>P->T at 540: in HEMA, MIM: 306700</li><li>T->S at 541: in HEMA; mild, MIM: 306700</li><li>D->N at 544: in HEMA; moderate: in dbSNP rsrs28937276, MIM: 306700</li><li>R->W at 546: in HEMA; mild: in dbSNP rsrs28937277, MIM: 306700</li><li>R->C at 550: in HEMA; mild/moderate: in dbSNP rsrs28937278, MIM: 306700</li><li>R->G at 550: in HEMA; mild: in dbSNP rsrs28937278, MIM: 306700</li><li>R->H at 550: in HEMA; mild/moderate: in dbSNP rsrs28937279, MIM: 306700</li><li>S->P at 553: in HEMA; severe, MIM: 306700</li><li>S->C at 554: in HEMA; moderate, MIM: 306700</li><li>S->G at 554: in HEMA; mild: in dbSNP rsrs28937280, MIM: 306700</li><li>V->D at 556: in HEMA; moderate, MIM: 306700</li><li>R->T at 560: in HEMA; mild, MIM: 306700</li><li>D->G at 561: in HEMA; severe: in dbSNP rsrs28937281, MIM: 306700</li><li>D->H at 561: in HEMA, MIM: 306700</li><li>D->Y at 561: in HEMA; severe, MIM: 306700</li><li>I->T at 567: in HEMA; mild, MIM: 306700</li><li>S->F at 577: in HEMA; mild: in dbSNP rsrs28937282, MIM: 306700</li><li>V->A at 578: in HEMA; mild, MIM: 306700</li><li>D->A at 579: in HEMA; mild, MIM: 306700</li><li>D->H at 579: in HEMA; mild, MIM: 306700</li><li>N->S at 583: in HEMA; mild, MIM: 306700</li><li>Q->H at 584: in HEMA; mild, MIM: 306700</li><li>Q->K at 584: in HEMA; moderate, MIM: 306700</li><li>Q->R at 584: in HEMA, MIM: 306700</li><li>I->R at 585: in HEMA; moderate-severe, MIM: 306700</li><li>I->T at 585: in HEMA; severe/moderate, MIM: 306700</li><li>M->V at 586: in HEMA; mild, MIM: 306700</li><li>D->G at 588: in HEMA, MIM: 306700</li><li>D->Y at 588: in HEMA, MIM: 306700</li><li>L->Q at 594: in HEMA; mild, MIM: 306700</li><li>S->P at 596: in HEMA; severe, MIM: 306700</li><li>N->D at 601: in HEMA, MIM: 306700</li><li>N->K at 601: in HEMA, MIM: 306700</li><li>R->G at 602: in HEMA; mild familial, MIM: 306700</li><li>S->I at 603: in HEMA, MIM: 306700</li><li>S->R at 603: in HEMA; severe, MIM: 306700</li><li>W->C at 604: in HEMA; severe, MIM: 306700</li><li>Y->H at 605: in HEMA, MIM: 306700</li><li>Y->S at 605: in HEMA; severe, MIM: 306700</li><li>N->I at 609: in HEMA; moderate, MIM: 306700</li><li>R->C at 612: in HEMA; mild/moderate; secretion impaired, MIM: 306700</li><li>N->K at 631: in HEMA; severe, MIM: 306700</li><li>N->S at 631: in HEMA, MIM: 306700</li><li>M->I at 633: in HEMA; mild, MIM: 306700</li><li>S->N at 635: in HEMA; mild, MIM: 306700</li><li>N->D at 637: in HEMA; severe sporadic/moderate, MIM: 306700</li><li>N->S at 637: in HEMA; mild; secretion impaired, MIM: 306700</li><li>Y->C at 639: in HEMA; moderate, MIM: 306700</li><li>L->V at 644: in HEMA; mild, MIM: 306700</li><li>L->F at 650: in HEMA; mild, MIM: 306700</li><li>V->A at 653: in HEMA; mild, MIM: 306700</li><li>V->M at 653: in HEMA; severe, MIM: 306700</li><li>L->P at 659: in HEMA, MIM: 306700</li><li>A->V at 663: in HEMA; mild, MIM: 306700</li><li>Q->P at 664: in HEMA; moderate-severe, MIM: 306700</li><li>Missing  at 671: in HEMA; severe, MIM: 306700</li><li>F->L at 677: in HEMA; moderate, MIM: 306700</li><li>M->I at 681: in HEMA; mild, MIM: 306700</li><li>V->F at 682: in HEMA, MIM: 306700</li><li>Y->C at 683: in HEMA; severe, MIM: 306700</li><li>Y->N at 683: in HEMA; mild, MIM: 306700</li><li>T->R at 686: in HEMA, MIM: 306700</li><li>F->L at 698: in HEMA, MIM: 306700</li><li>M->T at 699: in HEMA; mild, MIM: 306700</li><li>M->V at 699: in HEMA; severe, MIM: 306700</li><li>M->I at 701: in HEMA; mild, MIM: 306700</li><li>G->V at 705: in HEMA; moderate, MIM: 306700</li><li>G->W at 710: in HEMA, MIM: 306700</li><li>N->I at 713: in HEMA; mild, MIM: 306700</li><li>R->L at 717: in HEMA; mild, MIM: 306700</li><li>R->W at 717: in HEMA; mild, MIM: 306700</li><li>G->D at 720: in HEMA; severe/moderate, MIM: 306700</li><li>G->S at 720: in HEMA, MIM: 306700</li><li>M->I at 721: in HEMA; severe, MIM: 306700</li><li>M->L at 721: in HEMA; mild, MIM: 306700</li><li>A->T at 723: in HEMA; moderate, MIM: 306700</li><li>L->Q at 725: in HEMA; severe, MIM: 306700</li><li>V->F at 727: in HEMA; severe, MIM: 306700</li><li>E->K at 739: in HEMA; mild; dbSNP:rs28937285, MIM: 306700</li><li>Y->C at 742: in HEMA; mild, MIM: 306700</li><li>R->G at 795: in dbSNP:rs2228152, MIM: 306700</li><li>P->R at 947: in HEMA, MIM: 306700</li><li>V->L at 1012: in HEMA, MIM: 306700</li><li>E->K at 1057: in HEMA; moderate; dbSNP:rs28933673, MIM: 306700</li><li>H->Y at 1066: in HEMA, MIM: 306700</li><li>D->E at 1260: in dbSNP:rs1800291, MIM: 306700</li><li>K->Q at 1289: in dbSNP:rs1800292, MIM: 306700</li><li>Q->K at 1336: in HEMA, MIM: 306700</li><li>N->K at 1460: in HEMA, MIM: 306700</li><li>L->P at 1481: in dbSNP:rs1800294, MIM: 306700</li><li>A->S at 1610: in HEMA, MIM: 306700</li><li>I->T at 1698: in HEMA; mild, MIM: 306700</li><li>Y->C at 1699: in HEMA; severe, MIM: 306700</li><li>Y->F at 1699: in HEMA; moderate; dbSNP:rs28935203, MIM: 306700</li><li>E->K at 1701: in HEMA; mild, MIM: 306700</li><li>Q->H at 1705: in HEMA; mild sporadic, MIM: 306700</li><li>R->C at 1708: in HEMA; East Hartford; severe/moderate/mild; abolishes thrombin cleavage at the light chain, MIM: 306700</li><li>R->H at 1708: in HEMA; mild; abolishes thrombin cleavage at the light chain; dbSNP:rs28937286, MIM: 306700</li><li>T->S at 1714: in HEMA; moderate, MIM: 306700</li><li>R->G at 1715: in HEMA; mild, MIM: 306700</li><li>E->K at 1723: in HEMA; severe, MIM: 306700</li><li>D->V at 1727: in HEMA; mild, MIM: 306700</li><li>Y->C at 1728: in HEMA; moderate, MIM: 306700</li><li>R->G at 1740: in HEMA; mild, MIM: 306700</li><li>K->Q at 1751: in HEMA, MIM: 306700</li><li>R->H at 1768: in HEMA, MIM: 306700</li><li>G->R at 1769: in HEMA; mild, MIM: 306700</li><li>L->P at 1771: in HEMA, MIM: 306700</li><li>L->F at 1775: in HEMA; mild: in dbSNP rsrs28937288, MIM: 306700</li><li>L->V at 1775: in HEMA; moderate: in dbSNP rsrs28937287, MIM: 306700</li><li>L->P at 1777: in HEMA; moderate, MIM: 306700</li><li>G->E at 1779: in HEMA; severe/moderate: in dbSNP rsrs28937289, MIM: 306700</li><li>G->R at 1779: in HEMA; severe, MIM: 306700</li><li>P->L at 1780: in HEMA; moderate, MIM: 306700</li><li>I->R at 1782: in HEMA; severe sporadic, MIM: 306700</li><li>D->H at 1788: in HEMA; mild, MIM: 306700</li><li>M->T at 1791: in HEMA; severe, MIM: 306700</li><li>A->P at 1798: in HEMA; severe, MIM: 306700</li><li>S->H at 1799: in HEMA; requires 2 nucleotide substitutions, MIM: 306700</li><li>R->C at 1800: in HEMA; moderate: in dbSNP rsrs28937291, MIM: 306700</li><li>R->G at 1800: in HEMA; mild: in dbSNP rsrs28937291, MIM: 306700</li><li>R->H at 1800: in HEMA; moderate/severe: in dbSNP rsrs28937290, MIM: 306700</li><li>P->A at 1801: in HEMA; mild, MIM: 306700</li><li>Y->C at 1802: in HEMA; moderate, MIM: 306700</li><li>S->Y at 1803: in HEMA; severe: in dbSNP rsrs28937292, MIM: 306700</li><li>F->S at 1804: in HEMA; severe, MIM: 306700</li><li>L->F at 1808: in HEMA; mild: in dbSNP rsrs28937293, MIM: 306700</li><li>M->I at 1842: in HEMA; moderate; dbSNP:rs28933674, MIM: 306700</li><li>P->S at 1844: in HEMA; mild; dbSNP:rs28933675, MIM: 306700</li><li>T->P at 1845: in HEMA; mild; dbSNP:rs28933676, MIM: 306700</li><li>E->G at 1848: in HEMA; mild, MIM: 306700</li><li>A->T at 1853: in HEMA; moderate/severe, MIM: 306700</li><li>A->V at 1853: in HEMA; mild; dbSNP:rs28933677, MIM: 306700</li><li>S->C at 1858: in HEMA; moderate, MIM: 306700</li><li>K->E at 1864: in HEMA, MIM: 306700</li><li>D->N at 1865: in HEMA; severe: in dbSNP rsrs28933678, MIM: 306700</li><li>D->Y at 1865: in HEMA; severe: in dbSNP rsrs28933678, MIM: 306700</li><li>H->P at 1867: in HEMA; mild, MIM: 306700</li><li>H->R at 1867: in HEMA; moderate; dbSNP:rs28933679, MIM: 306700</li><li>G->D at 1869: in HEMA; severe, MIM: 306700</li><li>G->V at 1869: in HEMA; severe, MIM: 306700</li><li>G->E at 1872: in HEMA; severe sporadic, MIM: 306700</li><li>P->R at 1873: in HEMA; severe; dbSNP:rs28933680, MIM: 306700</li><li>L->P at 1875: in HEMA, MIM: 306700</li><li>V->L at 1876: in HEMA; mild, MIM: 306700</li><li>C->R at 1877: in HEMA, MIM: 306700</li><li>L->P at 1882: in HEMA, MIM: 306700</li><li>R->I at 1888: in HEMA; severe, MIM: 306700</li><li>E->G at 1894: in HEMA; moderate, MIM: 306700</li><li>I->F at 1901: in HEMA; mild, MIM: 306700</li><li>E->D at 1904: in HEMA, MIM: 306700</li><li>E->K at 1904: in HEMA; severe; dbSNP:rs28933681, MIM: 306700</li><li>S->C at 1907: in HEMA; moderate, MIM: 306700</li><li>S->R at 1907: in HEMA; severe, MIM: 306700</li><li>W->L at 1908: in HEMA; mild, MIM: 306700</li><li>Y->C at 1909: in HEMA; moderate, MIM: 306700</li><li>A->T at 1939: in HEMA; severe, MIM: 306700</li><li>A->V at 1939: in HEMA; second mutation; could be a polymorphism, MIM: 306700</li><li>N->D at 1941: in HEMA; severe/moderate, MIM: 306700</li><li>N->S at 1941: in HEMA; severe/moderate; dbSNP:rs28933682, MIM: 306700</li><li>G->A at 1942: in HEMA; moderate, MIM: 306700</li><li>M->V at 1945: in HEMA; moderate, MIM: 306700</li><li>L->F at 1951: in HEMA; mild, MIM: 306700</li><li>R->L at 1960: in HEMA; moderate: in dbSNP rsrs28937294, MIM: 306700</li><li>R->Q at 1960: in HEMA; mild/moderate; dbSNP:rs28937294, MIM: 306700</li><li>L->P at 1963: in HEMA; severe, MIM: 306700</li><li>S->I at 1965: in HEMA, MIM: 306700</li><li>M->I at 1966: in HEMA; mild, MIM: 306700</li><li>M->V at 1966: in HEMA; mild, MIM: 306700</li><li>G->D at 1967: in HEMA; moderate; dbSNP:rs28937295, MIM: 306700</li><li>S->R at 1968: in HEMA; mild, MIM: 306700</li><li>N->T at 1971: in HEMA, MIM: 306700</li><li>H->L at 1973: in HEMA; mild, MIM: 306700</li><li>G->V at 1979: in HEMA; moderate: in dbSNP rsrs28937296, MIM: 306700</li><li>H->P at 1980: in HEMA, MIM: 306700</li><li>H->Y at 1980: in HEMA; mild: in dbSNP rsrs28937297, MIM: 306700</li><li>F->I at 1982: in HEMA; mild, MIM: 306700</li><li>R->Q at 1985: in HEMA; mild, MIM: 306700</li><li>L->P at 1994: in HEMA; moderate, MIM: 306700</li><li>Y->C at 1998: in HEMA; mild, MIM: 306700</li><li>G->A at 2000: in HEMA; moderate-severe, MIM: 306700</li><li>T->R at 2004: in HEMA; sporadic, MIM: 306700</li><li>M->I at 2007: in HEMA; mild, MIM: 306700</li><li>W->C at 2015: in HEMA; moderate, MIM: 306700</li><li>R->P at 2016: in HEMA; severe familial, MIM: 306700</li><li>R->W at 2016: in HEMA; severe/moderate/mild: in dbSNP rsrs28937298, MIM: 306700</li><li>E->G at 2018: in HEMA; moderate, MIM: 306700</li><li>G->D at 2022: in HEMA; severe, MIM: 306700</li><li>G->R at 2028: in HEMA, MIM: 306700</li><li>S->N at 2030: in HEMA; mild, MIM: 306700</li><li>V->A at 2035: in HEMA, MIM: 306700</li><li>Y->C at 2036: in HEMA; moderate, MIM: 306700</li><li>N->S at 2038: in HEMA; mild/moderate, MIM: 306700</li><li>C->Y at 2040: in HEMA, MIM: 306700</li><li>G->E at 2045: in HEMA; mild, MIM: 306700</li><li>G->V at 2045: in HEMA; severe sporadic, MIM: 306700</li><li>I->S at 2051: in HEMA; severe, MIM: 306700</li><li>I->N at 2056: in HEMA; severe, MIM: 306700</li><li>A->P at 2058: in HEMA; moderate, MIM: 306700</li><li>W->R at 2065: in HEMA; moderate: in dbSNP rsrs28937299, MIM: 306700</li><li>P->L at 2067: in HEMA; severe sporadic, MIM: 306700</li><li>A->V at 2070: in HEMA; mild, MIM: 306700</li><li>S->N at 2082: in HEMA; severe, MIM: 306700</li><li>S->F at 2088: in HEMA; severe: in dbSNP rsrs28937300, MIM: 306700</li><li>D->G at 2093: in HEMA; mild: in dbSNP rsrs28937301, MIM: 306700</li><li>D->Y at 2093: in HEMA; severe familial, MIM: 306700</li><li>T->N at 2105: in HEMA; moderate, MIM: 306700</li><li>Q->E at 2106: in HEMA; mild, MIM: 306700</li><li>Q->R at 2106: in HEMA; mild, MIM: 306700</li><li>G->S at 2107: in HEMA; severe, MIM: 306700</li><li>R->C at 2109: in HEMA; mild, MIM: 306700</li><li>I->F at 2117: in HEMA, MIM: 306700</li><li>I->S at 2117: in HEMA; mild-moderate; affinity for VWF reduced 8-fold, MIM: 306700</li><li>Q->R at 2119: in HEMA; moderate, MIM: 306700</li><li>F->C at 2120: in HEMA, MIM: 306700</li><li>F->L at 2120: in HEMA; mild, MIM: 306700</li><li>Y->C at 2124: in HEMA; mild, MIM: 306700</li><li>R->P at 2135: in HEMA; severe, MIM: 306700</li><li>S->Y at 2138: in HEMA; moderate; affinity for VWF reduced 80-fold, MIM: 306700</li><li>T->N at 2141: in HEMA; severe, MIM: 306700</li><li>F->C at 2145: in HEMA; mild, MIM: 306700</li><li>N->S at 2148: in HEMA; moderate, MIM: 306700</li><li>N->D at 2157: in HEMA; mild, MIM: 306700</li><li>P->L at 2162: in HEMA; severe, MIM: 306700</li><li>R->C at 2169: in HEMA; mild, MIM: 306700</li><li>R->H at 2169: in HEMA; severe/mild; affinity for VWF reducced 3-fold, MIM: 306700</li><li>P->Q at 2172: in HEMA; moderate, MIM: 306700</li><li>P->R at 2172: in HEMA; severe, MIM: 306700</li><li>T->A at 2173: in HEMA; mild, MIM: 306700</li><li>T->I at 2173: in HEMA; mild, MIM: 306700</li><li>H->D at 2174: in HEMA, MIM: 306700</li><li>R->C at 2178: in HEMA; mild/moderate: in dbSNP rsrs28936970, MIM: 306700</li><li>R->H at 2178: in HEMA; mild: in dbSNP rsrs28937302, MIM: 306700</li><li>R->L at 2178: in HEMA; mild: in dbSNP rsrs28937302, MIM: 306700</li><li>R->C at 2182: in HEMA; severe/moderate: in dbSNP rsrs28937304, MIM: 306700</li><li>R->H at 2182: in HEMA; severe/moderate: in dbSNP rsrs28937303, MIM: 306700</li><li>R->P at 2182: in HEMA; moderate/severe, MIM: 306700</li><li>M->R at 2183: in HEMA; moderate, MIM: 306700</li><li>M->V at 2183: in HEMA; mild, MIM: 306700</li><li>L->S at 2185: in HEMA; severe, MIM: 306700</li><li>L->W at 2185: in HEMA, MIM: 306700</li><li>S->I at 2192: in HEMA; mild, MIM: 306700</li><li>C->G at 2193: in HEMA, MIM: 306700</li><li>P->R at 2196: in HEMA, MIM: 306700</li><li>G->V at 2198: in HEMA; severe sporadic, MIM: 306700</li><li>E->D at 2200: in HEMA, MIM: 306700</li><li>I->T at 2204: in HEMA; mild, MIM: 306700</li><li>I->N at 2209: in HEMA; moderate, MIM: 306700</li><li>A->P at 2211: in HEMA; moderate: in dbSNP rsrs28937305, MIM: 306700</li><li>A->P at 2220: in HEMA; mild, MIM: 306700</li><li>Missing  at 2223: in HEMA; severe/moderate, MIM: 306700</li><li>P->L at 2224: in HEMA, MIM: 306700</li><li>Missing  at 2224: in HEMA; moderate, MIM: 306700</li><li>R->G at 2228: in HEMA; severe: in dbSNP rsrs28937306, MIM: 306700</li><li>R->L at 2228: in HEMA; moderate: in dbSNP rsrs28935201, MIM: 306700</li><li>R->P at 2228: in HEMA; moderate-severe, MIM: 306700</li><li>R->Q at 2228: in HEMA; severe/moderate: in dbSNP rsrs28935201, MIM: 306700</li><li>L->F at 2229: in HEMA, MIM: 306700</li><li>V->M at 2242, MIM: 306700</li><li>W->C at 2248: in HEMA; moderate: in dbSNP rsrs28937307, MIM: 306700</li><li>W->S at 2248: in HEMA; moderate, MIM: 306700</li><li>V->A at 2251: in HEMA; mild, MIM: 306700</li><li>V->E at 2251: in HEMA, MIM: 306700</li><li>M->V at 2257: in HEMA; moderate; could be a polymorphism; dbSNP:rs1800297, MIM: 306700</li><li>V->VQ at 2262: in HEMA; moderate, MIM: 306700</li><li>T->A at 2264: in HEMA, MIM: 306700</li><li>Q->R at 2265: in HEMA; moderate: in dbSNP rsrs28937308, MIM: 306700</li><li>F->C at 2279: in HEMA; severe sporadic, MIM: 306700</li><li>F->I at 2279: in HEMA, MIM: 306700</li><li>I->T at 2281: in HEMA; severe, MIM: 306700</li><li>W->L at 2290: in HEMA, MIM: 306700</li><li>G->V at 2304: in HEMA, MIM: 306700</li><li>D->A at 2307: in HEMA; moderate/mild, MIM: 306700</li><li>P->L at 2319: in HEMA; mild/severe, MIM: 306700</li><li>P->S at 2319: in HEMA; mild, MIM: 306700</li><li>R->C at 2323: in HEMA; severe/moderate; may cause reduced phospholipid binding, MIM: 306700</li><li>R->G at 2323: in HEMA; moderate, MIM: 306700</li><li>R->H at 2323: in HEMA; mild; may cause reduced phospholipid binding, MIM: 306700</li><li>R->L at 2323: in HEMA; mild, MIM: 306700</li><li>R->G at 2326: in HEMA, MIM: 306700</li><li>R->L at 2326: in HEMA; severe/moderate; may cause reduced phospholipid binding, MIM: 306700</li><li>R->P at 2326: in HEMA; severe sporadic, MIM: 306700</li><li>R->Q at 2326: in HEMA; moderate/mild; may cause reduced phospholipid binding, MIM: 306700</li><li>Q->P at 2330: in HEMA; severe, MIM: 306700</li><li>W->R at 2332: in HEMA; severe, MIM: 306700</li><li>R->T at 2339: in HEMA; moderate, MIM: 306700</li><li>G->C at 2344: in HEMA; moderate, MIM: 306700</li><li>G->S at 2344: in HEMA, MIM: 306700</li><li>C->S at 2345: in HEMA, MIM: 306700</li><li>C->Y at 2345: in HEMA, MIM: 306700</li>	secretion	GO:0046903	phospholipid binding	GO:0005543			<li>P80012</li><li>Q28833</li><li>P84122</li><li>P04275</li><li>P42804</li><li>Q8CIZ8</li><li>Q28295</li>	Hemophilia A (HEMA) [MIM:306700]	<li>rs28935207</li><li>rs28935206</li><li>rs28935209</li><li>rs28935208</li><li>rs28935203</li><li>rs28935205</li><li>rs28935204</li><li>rs28933671</li><li>rs28933672</li><li>rs28933670</li><li>rs28936969</li><li>rs28936968</li><li>rs28933669</li><li>rs28933668</li><li>rs1800297</li><li>rs28936970</li><li>rs1800294</li><li>rs28935210</li><li>rs28935211</li><li>rs28935212</li><li>rs1800292</li><li>rs1800291</li><li>rs28935216</li><li>rs28935215</li><li>rs28935213</li><li>rs28933680</li><li>rs28933681</li><li>rs28933682</li><li>rs28937294</li><li>rs28933678</li><li>rs28933677</li><li>rs28937293</li><li>rs28937292</li><li>rs28933679</li><li>rs28937291</li><li>rs28933674</li><li>rs28937290</li><li>rs28937300</li><li>rs1800288</li><li>rs28933673</li><li>rs28937301</li><li>rs28933676</li><li>rs35383156</li><li>rs28937302</li><li>rs28933675</li><li>rs28937299</li><li>rs28937298</li><li>rs28937297</li><li>rs28937296</li><li>rs34371500</li><li>rs28937295</li><li>rs28935499</li><li>rs28937307</li><li>rs28937308</li><li>rs28937303</li><li>rs28937281</li><li>rs28937304</li><li>rs28937280</li><li>rs28937305</li><li>rs28937306</li><li>rs28937282</li><li>rs28937285</li><li>rs28937287</li><li>rs28937289</li><li>rs28937288</li><li>rs28936083</li><li>rs28937268</li><li>rs28937269</li><li>rs2228152</li><li>rs28935201</li><li>rs28937272</li><li>rs28937270</li><li>rs28937276</li><li>rs28937275</li><li>rs28937274</li><li>rs28937273</li><li>rs28937279</li><li>rs28937278</li><li>rs28937277</li>	2
P00480	5009		<li>R->Q at 26: in OTCD, MIM: 311250</li><li>G->C at 39: in OTCD; late onset, MIM: 311250</li><li>R->C at 40: in OTCD; late onset, MIM: 311250</li><li>R->H at 40: in OTCD; late onset, MIM: 311250</li><li>L->F at 43, MIM: 311250</li><li>T->I at 44: in OTCD, MIM: 311250</li><li>L->P at 45: in OTCD, MIM: 311250</li><li>L->V at 45: in OTCD, MIM: 311250</li><li>K->R at 46: in dbSNP:rs1800321, MIM: 311250</li><li>N->I at 47: in OTCD; neonatal, MIM: 311250</li><li>G->R at 50: in OTCD; late onset, MIM: 311250</li><li>Y->D at 55: in OTCD; late onset, MIM: 311250</li><li>M->T at 56: in OTCD; late onset, MIM: 311250</li><li>S->L at 60: in OTCD, MIM: 311250</li><li>L->P at 63: in OTCD; late onset, MIM: 311250</li><li>G->E at 79: in OTCD, MIM: 311250</li><li>Missing  at 82: in OTCD, MIM: 311250</li><li>G->D at 83: in OTCD, MIM: 311250</li><li>G->R at 83: in OTCD; neonatal, MIM: 311250</li><li>E->K at 87: in OTCD, MIM: 311250</li><li>K->N at 88: in OTCD; late onset, MIM: 311250</li><li>S->R at 90: in OTCD, MIM: 311250</li><li>R->Q at 92: in OTCD, MIM: 311250</li><li>T->A at 93: in OTCD; late onset, MIM: 311250</li><li>R->T at 94: in OTCD, MIM: 311250</li><li>G->D at 100: in OTCD; late onset, MIM: 311250</li><li>F->L at 101, MIM: 311250</li><li>A->E at 102: in OTCD, MIM: 311250</li><li>L->P at 111: in dbSNP:rs1800324, MIM: 311250</li><li>H->L at 117: in OTCD, MIM: 311250</li><li>H->R at 117: in OTCD; late onset, MIM: 311250</li><li>T->M at 125: in OTCD; neonatal, MIM: 311250</li><li>D->G at 126: in OTCD; 0.9% of wild-type activity; early onset, MIM: 311250</li><li>R->H at 129: in OTCD; 2.1% of wild-type activity; early onset, MIM: 311250</li><li>L->S at 139: in OTCD, MIM: 311250</li><li>A->P at 140: in OTCD; late onset, MIM: 311250</li><li>R->P at 141: in OTCD, MIM: 311250</li><li>R->Q at 141: in OTCD; activity is 100-fold lower; most common point mutation, MIM: 311250</li><li>L->F at 148: in OTCD, MIM: 311250</li><li>I->T at 159: in OTCD, MIM: 311250</li><li>I->S at 160: in OTCD, MIM: 311250</li><li>N->S at 161: in OTCD, MIM: 311250</li><li>G->R at 162: in OTCD, MIM: 311250</li><li>H->Q at 168: in OTCD; late onset, MIM: 311250</li><li>H->R at 168: in OTCD; late onset, MIM: 311250</li><li>I->F at 172: in OTCD, MIM: 311250</li><li>I->M at 172: in OTCD; no activity; early onset, MIM: 311250</li><li>A->P at 174: in OTCD, MIM: 311250</li><li>D->V at 175: in OTCD, MIM: 311250</li><li>Y->C at 176: in OTCD; late onset, MIM: 311250</li><li>Missing  at 178-179: in OTCD; neonatal, MIM: 311250</li><li>T->M at 178: in OTCD; neonatal, MIM: 311250</li><li>Q->H at 180: in OTCD, MIM: 311250</li><li>E->G at 181: in OTCD; neonatal, MIM: 311250</li><li>H->L at 182: in OTCD, MIM: 311250</li><li>Y->C at 183: in OTCD, MIM: 311250</li><li>Y->D at 183: in OTCD; late onset, MIM: 311250</li><li>G->R at 188: in OTCD; neonatal, MIM: 311250</li><li>G->V at 188: in OTCD, MIM: 311250</li><li>L->F at 191: in OTCD, MIM: 311250</li><li>S->R at 192: in OTCD; neonatal, MIM: 311250</li><li>G->R at 195: in OTCD; no activity, MIM: 311250</li><li>D->V at 196: in OTCD; neonatal; 3.7% activity, MIM: 311250</li><li>D->Y at 196: in OTCD; neonatal, MIM: 311250</li><li>G->E at 197: in OTCD, MIM: 311250</li><li>G->R at 197: in OTCD, MIM: 311250</li><li>N->K at 198: in OTCD, MIM: 311250</li><li>L->P at 201: in OTCD; neonatal, MIM: 311250</li><li>H->Y at 202: in OTCD, MIM: 311250</li><li>S->C at 203: in OTCD, MIM: 311250</li><li>M->I at 206: in OTCD, MIM: 311250</li><li>M->R at 206: in OTCD; neonatal, MIM: 311250</li><li>S->R at 207: in OTCD; neonatal, MIM: 311250</li><li>A->T at 208: in OTCD; late onset, MIM: 311250</li><li>A->V at 209: in OTCD; neonatal, MIM: 311250</li><li>M->K at 213: in OTCD; late onset, MIM: 311250</li><li>H->Y at 214: in OTCD; neonatal, MIM: 311250</li><li>Q->E at 216: in OTCD, MIM: 311250</li><li>P->A at 220: in OTCD; late onset, MIM: 311250</li><li>P->L at 225: in OTCD, MIM: 311250</li><li>P->R at 225: in OTCD; neonatal, MIM: 311250</li><li>P->T at 225: in OTCD; late onset, MIM: 311250</li><li>T->I at 242: in OTCD; late onset, MIM: 311250</li><li>L->Q at 244: in OTCD; late onset, MIM: 311250</li><li>T->K at 247: in OTCD; neonatal/late onset, MIM: 311250</li><li>H->P at 255: in OTCD, MIM: 311250</li><li>T->K at 262: in OTCD; mild, MIM: 311250</li><li>D->G at 263: in OTCD, MIM: 311250</li><li>D->N at 263: in OTCD, MIM: 311250</li><li>T->A at 264: in OTCD; late onset 8.9% activity, MIM: 311250</li><li>T->I at 264: in OTCD; late onset, MIM: 311250</li><li>W->L at 265: in OTCD; mild, MIM: 311250</li><li>S->R at 267: in OTCD, MIM: 311250</li><li>M->T at 268: in OTCD; late onset, MIM: 311250</li><li>G->E at 269: in OTCD; neonatal, MIM: 311250</li><li>Q->R at 270: in about 5% of population; dbSNP:rs1800328, MIM: 311250</li><li>Missing  at 272: in OTCD; late onset, MIM: 311250</li><li>R->Q at 277: in OTCD; late onset, MIM: 311250</li><li>R->W at 277: in OTCD; late onset, MIM: 311250</li><li>L->F at 301: in OTCD, MIM: 311250</li><li>H->L at 302: in OTCD; female; late onset, MIM: 311250</li><li>H->Q at 302: in OTCD; late onset, MIM: 311250</li><li>H->Y at 302: in OTCD; neonatal, MIM: 311250</li><li>C->R at 303: in OTCD; neonatal, MIM: 311250</li><li>C->Y at 303: in OTCD, MIM: 311250</li><li>L->F at 304: in OTCD, MIM: 311250</li><li>P->H at 305: in OTCD, MIM: 311250</li><li>Missing  at 309: in OTCD; late onset, MIM: 311250</li><li>R->L at 320: in OTCD, MIM: 311250</li><li>E->K at 326: in OTCD, MIM: 311250</li><li>R->G at 330: in OTCD, MIM: 311250</li><li>T->A at 333, MIM: 311250</li><li>A->S at 336: in OTCD; late onset, MIM: 311250</li><li>V->L at 337: in OTCD; late onset, MIM: 311250</li><li>V->L at 339: in OTCD; neonatal, MIM: 311250</li><li>S->P at 340: in OTCD; late onset, MIM: 311250</li><li>L->P at 341: in OTCD, MIM: 311250</li><li>T->K at 343: in OTCD; late onset, MIM: 311250</li><li>Y->C at 345: in OTCD; neonatal, MIM: 311250</li><li>Y->D at 345: in OTCD, MIM: 311250</li><li>F->C at 354: in OTCD; late onset, MIM: 311250</li>								Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	<li>rs1800328</li><li>rs1800324</li><li>rs1800321</li>	2
P00488	2162		<li>V->L at 35: higher specific activity; dbSNP:rs5985</li><li>V->I at 40: in dbSNP rsrs3024472</li><li>Y->F at 205: in dbSNP rsrs3024477</li><li>T->I at 551: in dbSNP:rs5984</li><li>P->L at 565: in allele F13A*1A, allele F13A*2A and allele F13*: in dbSNP rsrs5982</li><li>L->Q at 589: in dbSNP:rs5983</li><li>V->I at 651: in allele F13A*2A and allele F13A*2B; dbSNP:rs5987</li><li>Q->E at 652: in allele F13A*1A and allele F13A*1B; dbSNP:rs5988</li><li>R->H at 682: in F13A deficiency, MIM: 134570</li>							<li>P12260</li><li>Q00320</li><li>P00488</li>	F13A deficiency [MIM:134570]	<li>rs5982</li><li>rs3024477</li><li>rs5983</li><li>rs5984</li><li>rs5985</li><li>rs5987</li><li>rs5988</li><li>rs3024472</li>	2
P00491	4860		<li>G->S at 51: in dbSNP:rs1049564</li><li>E->K at 89: in NP deficiency, MIM: 164050</li><li>D->G at 128: in NP deficiency, MIM: 164050</li><li>A->P at 174: in NP deficiency, MIM: 164050</li><li>Y->C at 192: in NP deficiency, MIM: 164050</li><li>R->P at 234: in NP deficiency, MIM: 164050</li>								Nucleoside phosphorylase deficiency (NP deficiency) [MIM:164050]	rs1049564	2
P00492	3251		<li>G->D at 7: in gout; Gravesend, MIM: 300323</li><li>V->G at 8: in LNS; HB, MIM: 300322</li><li>G->D at 16: in LNS; FG, MIM: 300322</li><li>G->S at 16: in gout; Urangan, MIM: 300323</li><li>D->V at 20: in gout; Mashad, MIM: 300323</li><li>C->W at 23: in gout JS, MIM: 300323</li><li>Missing  at 28: in LNS, MIM: 300323</li><li>L->P at 41: in LNS; Detroit, MIM: 300322</li><li>I->F at 42: in LNS; Isar, MIM: 300322</li><li>I->T at 42: in LNS; Heapey, MIM: 300322</li><li>MD->RN at 43-44: in LNS; Salamanca, MIM: 300322</li><li>R->K at 45: in LNS; RJK 2163, MIM: 300322</li><li>R->H at 48: in gout; AD and DD, MIM: 300323</li><li>A->P at 50: in LNS; LW, MIM: 300322</li><li>A->V at 50: in LNS; 1265, MIM: 300322</li><li>R->G at 51: in gout; Toronto, MIM: 300323</li><li>R->P at 51: in LNS; Banbury, MIM: 300322</li><li>D->G at 52: in Edinburgh, MIM: 300322</li><li>V->A at 53: in gout; MG, MIM: 300323</li><li>V->M at 53: in gout; TE, MIM: 300323</li><li>M->L at 54: in LNS; Japan-1, MIM: 300322</li><li>M->T at 57: in LNS; Montreal, MIM: 300322</li><li>G->R at 58: in gout; Toowong, MIM: 300323</li><li>H->R at 61: enzyme activity 37% of normal; asymptomatic, MIM: 300323</li><li>G->E at 70: in LNS; New Haven/1510, MIM: 300322</li><li>G->R at 71: in LNS; Yale, MIM: 300322</li><li>F->L at 74: in LNS; Flint/RJK 892/DW/Perth/1522, MIM: 300322</li><li>L->V at 78: in gout; Swan, MIM: 300323</li><li>D->V at 80: in gout; Arlington, MIM: 300323</li><li>S->R at 104: in gout; Munich, MIM: 300323</li><li>S->L at 110: in gout; London, MIM: 300323</li><li>V->D at 130: in LNS; Midland/RJK 896, MIM: 300322</li><li>L->S at 131: in LNS; RJK 1784, MIM: 300322</li><li>I->M at 132: in gout; Ann-Arbor, MIM: 300323</li><li>I->T at 132: in LNS; Runcorn, MIM: 300322</li><li>D->G at 135: in gout; Yeronga, MIM: 300323</li><li>M->K at 143: in LNS; RJK 1210, MIM: 300322</li><li>M->MA at 143: in LNS; RW, MIM: 300322</li><li>A->S at 161: in gout; Milwaukee/RJK 949, MIM: 300323</li><li>S->R at 162: in LNS; Farnham, MIM: 300322</li><li>T->I at 168: in gout; Brisbane, MIM: 300323</li><li>P->L at 176: in LNS; Marlow, MIM: 300322</li><li>D->V at 177: in LNS; Roanne, MIM: 300322</li><li>D->Y at 177: in LNS; RJK 2185, MIM: 300322</li><li>VG->GR at 179-180: in gout; Japan-2, MIM: 300322</li><li>Missing  at 179: in LNS; Michigan, MIM: 300322</li><li>I->T at 183: in gout; JF, MIM: 300323</li><li>V->A at 188: in Japan, MIM: 300323</li><li>D->E at 194: in gout; Moose-Jaw; results in cooperativity and decreased substrate affinities, MIM: 300323</li><li>D->N at 194: in LNS; Kinston/RJK 2188, MIM: 300322</li><li>Y->C at 195: in gout; Dirranbandi, MIM: 300323</li><li>F->V at 199: in LNS; New Briton/RJK 950, MIM: 300322</li><li>D->G at 201: in gout; Ashville, MIM: 300323</li><li>D->N at 201: in gout; RB, MIM: 300323</li><li>D->Y at 201: in LNS; GM, MIM: 300322</li><li>H->D at 204: in LNS; RJK 1874, MIM: 300322</li><li>H->R at 204: in LNS; 779, MIM: 300322</li><li>C->Y at 206: in LNS; Reading/RJK 1727, MIM: 300322</li>								<li>Gout [MIM:300323]</li><li>Lesch-Nyhan syndrome (LNS) [MIM:300322]</li>		2
P00505	2806		<li>G->S at 188: in dbSNP:rs11076256</li><li>G->V at 346: in dbSNP:rs30842</li><li>V->A at 428: in dbSNP:rs17849335</li>									<li>rs17849335</li><li>rs11076256</li><li>rs30842</li>	2
P00519	25	<ul><li>T->A at 735: Abolishes phosphorylation. Loss of binding YWHAS and YWHAZ. Localizes to the nucleus. No effect on kinase activity</li></ul>	<li>R->G at 47: in a lung large cell carcinoma sample; somatic mutation</li><li>L->P at 140: in dbSNP:rs1064152</li><li>R->K at 166: in a melanoma sample; somatic mutation</li><li>K->R at 247: in dbSNP:rs34549764</li><li>G->V at 706: in dbSNP rsrs34634745</li><li>P->L at 810: in dbSNP rsrs2229071</li><li>T->P at 852</li><li>P->S at 900: in dbSNP rsrs35266696</li><li>S->P at 968: in dbSNP:rs1064165</li><li>S->L at 972: in dbSNP:rs2229067</li>	phosphorylation	GO:0016310	<li>binding</li><li>kinase activity</li>	<li>GO:0005488</li><li>GO:0016301</li>	nucleus	GO:0005634	<li>P63103</li><li>P29361</li><li>Q5ZKC9</li><li>Q5R651</li><li>P63104</li>		<li>rs1064152</li><li>rs34634745</li><li>rs2229071</li><li>rs35266696</li><li>rs2229067</li><li>rs34549764</li><li>rs1064165</li>	3
P00540	4342		<li>R->L at 96: in dbSNP rsrs34532635</li><li>A->S at 105: in dbSNP:rs35392772</li><li>A->T at 123: in a lung adenocarcinoma sample; somatic mutation</li><li>S->P at 300: in dbSNP rsrs56300224</li>									<li>rs34532635</li><li>rs35392772</li><li>rs56300224</li>	2
P00558	5230		<li>L->P at 88: in congenital nonspherocytic anemia; variant Matsue</li><li>G->V at 158: in chronic hemolytic anemia; variant Shizuoka, MIM: 300653</li><li>D->V at 164: in chronic hemolytic anemia and mental retardation; variant Amiens, MIM: 300653</li><li>Missing  at 191: in chronic hemolytic anemia; variant Alabama, MIM: 300653</li><li>R->P at 206: in chronic hemolytic anemia; variant Uppsala, MIM: 300653</li><li>E->A at 252: in chronic hemolytic anemia; variant Antwerp, MIM: 300653</li><li>V->M at 266: in chronic nonspherocytic hemolytic anemia; variant Tokyo, MIM: 300653</li><li>D->N at 268: in Munchen; 21% of activity, MIM: 300653</li><li>D->V at 285: in chronic hemolytic anemia; variant Herlev; 50% of activity, MIM: 300653</li><li>D->N at 315: in rhabdomyolysis; variant Creteil, MIM: 300653</li><li>C->R at 316: in chronic hemolytic anemia; variant Michigan, MIM: 300653</li><li>T->N at 352, MIM: 300653</li>								Chronic hemolytic anemia [MIM:300653]		2
P00568	203		<li>G->R at 40: in hemolytic anemia</li><li>G->R at 64: in hemolytic anemia</li><li>E->Q at 123: in dbSNP:rs8192462</li><li>R->W at 128: in hemolytic anemia: in dbSNP rsrs28930974, MIM: 103000</li><li>Missing  at 140: in hemolytic anemia, MIM: 103000</li><li>Y->C at 164: in hemolytic anemia, MIM: 103000</li>								Hemolytic anemia [MIM:103000]	<li>rs8192462</li><li>rs28930974</li>	2
P00709	3906		<li>I->V at 46: in dbSNP:rs2232565</li>									rs2232565	2
P00734	2147		<li>E->G at 72: in dysprothrombinemia; Shanghai</li><li>T->M at 165: in dbSNP:rs5896</li><li>E->K at 200: in dysprothrombinemia; prothrombin type 3</li><li>R->C at 314: in dysprothrombinemia; Barcelona/Madrid</li><li>R->H at 314: in dysprothrombinemia; Padua-1</li><li>M->T at 380: in dysprothrombinemia; Himi-1</li><li>P->T at 386: in dbSNP:rs5897</li><li>R->C at 425: in dysprothrombinemia; Quick-1</li><li>R->H at 431: in dysprothrombinemia; Himi-2</li><li>R->W at 461: in dysprothrombinemia; Tokushima</li><li>E->A at 509: in dysprothrombinemia; Salakta/Frankfurt</li><li>G->V at 601: in dysprothrombinemia; Quick-2</li>									<li>rs5897</li><li>rs5896</li>	2
P00736	715		<li>Y->H at 131</li><li>S->L at 152: common polymorphism; dbSNP:rs1801046</li><li>H->Y at 163</li><li>E->K at 184: in dbSNP rsrs1126605</li><li>T->R at 186: in dbSNP:rs4519167</li><li>G->R at 261: in dbSNP rsrs3813728</li>									<li>rs1801046</li><li>rs1126605</li><li>rs3813728</li><li>rs4519167</li>	2
P00738	3240		<li>Missing  at 29-87: in allele HP*1F and allele HP*1S</li><li>N->D at 193: in allele HP*1F</li><li>E->K at 194: in allele HP*1F</li><li>D->H at 397: in dbSNP:rs12646</li>									rs12646	2
P00739			<li>D->H at 339: in dbSNP:rs12646</li>									rs12646	2
P00740	2158		<li>I->F at 7</li><li>I->N at 17: in HEMB; severe; UK 22, MIM: 306900</li><li>C->R at 28: in HEMB; moderate; HB130, MIM: 306900</li><li>C->Y at 28: in HEMB, MIM: 306900</li><li>V->I at 30: in HEMB, MIM: 306900</li><li>A->T at 37: in warfarin sensitivity; reduced affinity of the glutamate carboxylase for the factor IX precursor, MIM: 306900</li><li>R->L at 43: in HEMB; severe; Bendorf, Beuten, Gleiwitz, etc., MIM: 306900</li><li>R->Q at 43: in HEMB; severe; San Dimas, Oxford-3, Strasbourg-2, etc., MIM: 306900</li><li>R->W at 43: in HEMB; severe; Boxtel, Heiden, Lienen, etc., MIM: 306900</li><li>K->N at 45: in HEMB; severe; Seattle E, MIM: 306900</li><li>R->S at 46: in HEMB; severe; Cambridge, MIM: 306900</li><li>R->T at 46: in HEMB; severe, MIM: 306900</li><li>N->I at 48: in HEMB; severe; Calgary-16, MIM: 306900</li><li>S->P at 49: in HEMB, MIM: 306900</li><li>L->S at 52: in HEMB; severe; Gla mutant, MIM: 306900</li><li>E->A at 53: in HEMB; severe; Oxford-B2; Gla mutant, MIM: 306900</li><li>E->G at 54: in HEMB; severe; HB151; Gla mutant, MIM: 306900</li><li>F->C at 55: in HEMB, MIM: 306900</li><li>G->A at 58: in HEMB; severe; Hong Kong-1, MIM: 306900</li><li>G->R at 58: in HEMB; severe; Los Angeles-4, MIM: 306900</li><li>Missing  at 62-63: in HEMB; severe, MIM: 306900</li><li>E->V at 66: in HEMB; moderate, MIM: 306900</li><li>E->K at 67: in HEMB; severe; Nagoya-4; Gla mutant, MIM: 306900</li><li>F->S at 71: in HEMB; severe, MIM: 306900</li><li>E->K at 73: in HEMB; severe; Seattle-3; Gla mutant, MIM: 306900</li><li>E->V at 73: in HEMB; severe; Chongqing; Gla mutant, MIM: 306900</li><li>R->Q at 75: in HEMB; mild, MIM: 306900</li><li>E->D at 79: in HEMB, MIM: 306900</li><li>T->R at 84: in HEMB, MIM: 306900</li><li>Y->C at 91: in HEMB; moderate, MIM: 306900</li><li>D->G at 93: in HEMB; moderate; Alabama, MIM: 306900</li><li>Q->P at 96: in HEMB; severe; New London, MIM: 306900</li><li>C->S at 97: in HEMB, MIM: 306900</li><li>P->R at 101: in HEMB, MIM: 306900</li><li>C->R at 102: in HEMB; severe; Basel, MIM: 306900</li><li>G->D at 106: in HEMB, MIM: 306900</li><li>G->S at 106: in HEMB; mild; Durham, MIM: 306900</li><li>C->S at 108: in HEMB, MIM: 306900</li><li>D->N at 110: in HEMB; severe; Oxford-D1, MIM: 306900</li><li>I->S at 112: in HEMB, MIM: 306900</li><li>N->K at 113: in HEMB; mild, MIM: 306900</li><li>Y->C at 115: in HEMB; severe, MIM: 306900</li><li>C->F at 119: in HEMB; severe, MIM: 306900</li><li>C->R at 119: in HEMB; Iran, MIM: 306900</li><li>E->K at 124: in HEMB, MIM: 306900</li><li>G->E at 125: in HEMB, MIM: 306900</li><li>G->R at 125: in HEMB, MIM: 306900</li><li>G->V at 125: in HEMB, MIM: 306900</li><li>Missing  at 129-130: in HEMB, MIM: 306900</li><li>C->Y at 134: in HEMB, MIM: 306900</li><li>I->T at 136: in HEMB; mild, MIM: 306900</li><li>G->D at 139: in HEMB; severe, MIM: 306900</li><li>G->S at 139: in HEMB, MIM: 306900</li><li>C->F at 155: in HEMB; severe, MIM: 306900</li><li>G->E at 160: in HEMB; mild, MIM: 306900</li><li>Q->H at 167: in HEMB; mild, MIM: 306900</li><li>S->C at 169: in HEMB, MIM: 306900</li><li>C->F at 170: in HEMB, MIM: 306900</li><li>C->R at 178: in HEMB, MIM: 306900</li><li>C->W at 178: in HEMB; severe, MIM: 306900</li><li>R->C at 191: in HEMB; moderate; Albuquerque, Cardiff-1, etc., MIM: 306900</li><li>R->H at 191: in HEMB; moderate; Chapel-Hill, Chicago-2, etc., MIM: 306900</li><li>T->A at 194: in dbSNP:rs6048, MIM: 306900</li><li>R->G at 226: in HEMB; severe; Madrid, MIM: 306900</li><li>R->Q at 226: in HEMB; severe; Hilo and Novara, MIM: 306900</li><li>R->W at 226: in HEMB; severe; Nagoya-1, Dernbach, Deventer, Idaho, etc., MIM: 306900</li><li>V->D at 227: in HEMB; mild, MIM: 306900</li><li>V->F at 227: in HEMB; Milano, MIM: 306900</li><li>V->F at 228: in HEMB; severe; Kashihara, MIM: 306900</li><li>V->L at 228: in HEMB; mild; Cardiff-2, MIM: 306900</li><li>Q->H at 241: in HEMB, MIM: 306900</li><li>Q->K at 241: in HEMB, MIM: 306900</li><li>C->S at 252: in HEMB; severe; this is the mutation in the index case of the disease, Stephen Christmas, MIM: 306900</li><li>C->Y at 252: in HEMB, MIM: 306900</li><li>G->E at 253: in HEMB; severe, MIM: 306900</li><li>G->R at 253: in HEMB; severe; Luanda, MIM: 306900</li><li>A->T at 265: in HEMB; mild, MIM: 306900</li><li>C->W at 268: in HEMB; moderate, MIM: 306900</li><li>A->T at 279: in HEMB; mild, MIM: 306900</li><li>N->D at 283: in HEMB; severe, MIM: 306900</li><li>Missing  at 286: in HEMB; severe, MIM: 306900</li><li>E->V at 291: in HEMB; Monschau, MIM: 306900</li><li>R->G at 294: in HEMB; severe, MIM: 306900</li><li>R->Q at 294: in HEMB; mild to moderate; Dreihacken, Penafiel and Seattle-4, MIM: 306900</li><li>H->R at 302: in HEMB, MIM: 306900</li><li>N->S at 306: in HEMB; mild, MIM: 306900</li><li>I->F at 316: in HEMB, MIM: 306900</li><li>L->R at 318: in HEMB, MIM: 306900</li><li>L->Q at 321: in HEMB; severe, MIM: 306900</li><li>P->H at 333: in HEMB; severe, MIM: 306900</li><li>P->T at 333: in HEMB, MIM: 306900</li><li>T->K at 342: in HEMB; mild, MIM: 306900</li><li>T->M at 342: in HEMB; moderate, MIM: 306900</li><li>I->L at 344: in HEMB, MIM: 306900</li><li>G->D at 351: in HEMB, MIM: 306900</li><li>W->C at 356: in HEMB; severe, MIM: 306900</li><li>G->E at 357: in HEMB; severe; Amagasaki, MIM: 306900</li><li>G->R at 357: in HEMB, MIM: 306900</li><li>K->E at 362: in HEMB; moderate, MIM: 306900</li><li>G->W at 363: in HEMB, MIM: 306900</li><li>A->D at 366: in HEMB, MIM: 306900</li><li>R->G at 379: in HEMB; moderate, MIM: 306900</li><li>R->Q at 379: in HEMB; severe; Iceland-1, London and Sesimbra, MIM: 306900</li><li>C->Y at 382: in HEMB, MIM: 306900</li><li>L->F at 383: in HEMB, MIM: 306900</li><li>L->I at 383: in HEMB, MIM: 306900</li><li>K->E at 387: in HEMB; mild, MIM: 306900</li><li>I->F at 390: in HEMB; severe, MIM: 306900</li><li>M->K at 394: in HEMB, MIM: 306900</li><li>F->I at 395: in HEMB, MIM: 306900</li><li>F->L at 395: in HEMB, MIM: 306900</li><li>C->F at 396: in HEMB, MIM: 306900</li><li>C->S at 396: in HEMB; severe, MIM: 306900</li><li>A->P at 397: in HEMB; mild; Hong Kong-11, MIM: 306900</li><li>R->T at 404: in HEMB, MIM: 306900</li><li>C->R at 407: in HEMB, MIM: 306900</li><li>C->S at 407: in HEMB; severe, MIM: 306900</li><li>D->H at 410: in HEMB; Mechtal, MIM: 306900</li><li>S->G at 411: in HEMB; Varel, MIM: 306900</li><li>S->I at 411: in HEMB; Schmallenberg, MIM: 306900</li><li>G->E at 412: in HEMB, MIM: 306900</li><li>G->R at 413: in HEMB; moderate to severe, MIM: 306900</li><li>P->T at 414: in HEMB; Bergamo, MIM: 306900</li><li>V->E at 419: in HEMB; moderately severe, MIM: 306900</li><li>F->V at 424: in HEMB, MIM: 306900</li><li>T->P at 426: in HEMB; severe; Barcelos, MIM: 306900</li><li>S->T at 430: in HEMB, MIM: 306900</li><li>W->G at 431: in HEMB, MIM: 306900</li><li>W->R at 431: in HEMB; moderate, MIM: 306900</li><li>G->S at 432: in HEMB; severe, MIM: 306900</li><li>G->V at 432: in HEMB; severe, MIM: 306900</li><li>E->A at 433: in HEMB, MIM: 306900</li><li>E->K at 433: in HEMB, MIM: 306900</li><li>C->Y at 435: in HEMB, MIM: 306900</li><li>A->V at 436: in HEMB; moderately severe; Niigata, MIM: 306900</li><li>G->E at 442: in HEMB, MIM: 306900</li><li>G->R at 442: in HEMB; severe; Angers, MIM: 306900</li><li>I->T at 443: in HEMB; moderately severe; Long Beach, Los Angeles and Vancouver, MIM: 306900</li><li>T->TIYT at 445: in HEMB; severe; Lousada, MIM: 306900</li><li>R->Q at 449: in HEMB; mild, MIM: 306900</li><li>R->W at 449: in HEMB; mild, MIM: 306900</li><li>Y->C at 450: in HEMB; severe, MIM: 306900</li><li>W->R at 453: in HEMB, MIM: 306900</li><li>I->T at 454: in HEMB; Italy, MIM: 306900</li><li>T->P at 461: in dbSNP:rs4149751, MIM: 306900</li>							<li>P51569</li><li>P22094</li><li>P22832</li><li>Q9CE02</li>	Recessive X-linked hemophilia B (HEMB) [MIM:306900]	<li>rs6048</li><li>rs4149751</li>	2
P00742	2159		<li>L->I at 7: in dbSNP:rs5963</li><li>Q->H at 30: in dbSNP:rs5961</li><li>A->T at 152: in dbSNP:rs3211772</li><li>G->R at 192: in dbSNP:rs3211783</li>									<li>rs3211783</li><li>rs3211772</li><li>rs5961</li><li>rs5963</li>	2
P00746	1675		<li>V->G at 213: in complement factor D deficiency, MIM: 134350</li><li>C->R at 214: in complement factor D deficiency, MIM: 134350</li><li>I->M at 248: in dbSNP:rs2230216, MIM: 134350</li>								Complement factor D deficiency [MIM:134350]	rs2230216	2
P00747	5340		<li>K->E at 38: in ligneous conjonctivitis</li><li>I->R at 46: in dbSNP:rs1049573</li><li>E->K at 57: in dbSNP:rs4252070</li><li>H->Q at 133: in dbSNP:rs4252186</li><li>R->K at 134: in dbSNP:rs2817</li><li>L->P at 147: in ligneous conjonctivitis</li><li>R->H at 235: in ligneous conjunctivitis, MIM: 217090</li><li>R->H at 261: in dbSNP:rs4252187, MIM: 217090</li><li>V->F at 374: in thrombophilia; Nagoya-1, MIM: 188050</li><li>R->W at 408: in dbSNP:rs4252119, MIM: 188050</li><li>K->I at 453: in dbSNP:rs1804181, MIM: 188050</li><li>D->N at 472: in dbSNP:rs4252125, MIM: 188050</li><li>A->V at 494: in dbSNP:rs4252128, MIM: 188050</li><li>R->W at 523: in dbSNP:rs4252129, MIM: 188050</li><li>R->H at 532: in ligneous conjonctivitis, MIM: 188050</li><li>S->P at 591: in thrombophilia, MIM: 188050</li><li>A->T at 620: in thrombophilia; inactive; Nagoya-2/Tochigi/Kagoshima, MIM: 188050</li><li>V->D at 676: in dbSNP:rs17857492, MIM: 188050</li><li>G->R at 751: in Kanagawa-1; 50% activity, MIM: 188050</li>								<li>Ligneous conjunctivitis [MIM:217090]</li><li>Thrombophilia [MIM:188050]</li>	<li>rs1804181</li><li>rs4252186</li><li>rs4252070</li><li>rs1049573</li><li>rs4252187</li><li>rs4252125</li><li>rs4252128</li><li>rs4252119</li><li>rs2817</li><li>rs4252129</li><li>rs17857492</li>	2
P00748			<li>Y->C at 53: in FA12D; Tenri; inactive, MIM: 234000</li><li>R->P at 142: in FA12D; CRM-negative phenotype; low levels of accumulation in the cell; not secreted, MIM: 234000</li><li>P->A at 207: in dbSNP:rs17876030, MIM: 234000</li><li>T->K at 328: in HAE3, MIM: 610618</li><li>T->R at 328: in HAE3, MIM: 610618</li><li>A->G at 340: in dbSNP:rs2230938, MIM: 610618</li><li>P->Q at 342: in dbSNP:rs2230939, MIM: 610618</li><li>R->P at 372: in FA12D; Locarno; inactive, MIM: 234000</li><li>A->T at 411: in FA12D; Shizuoka; CRM-negative phenotype; transcribed and synthesized at wild-type levels; not secreted, MIM: 234000</li><li>L->M at 414: in FA12D; CRM-negative phenotype, MIM: 234000</li><li>R->Q at 417: in FA12D; CRM-negative phenotype, MIM: 234000</li><li>Q->K at 440: in FA12D; CRM-negative phenotype; accumulation in the cell; low secretion, MIM: 234000</li><li>D->N at 461: in FA12D; CRM-positive phenotype, MIM: 234000</li><li>W->C at 505: in FA12D; CRM-negative phenotype; transcribed and synthesized at wild-type levels; not secreted, MIM: 234000</li><li>G->D at 545: in dbSNP:rs17876034, MIM: 234000</li><li>G->R at 589: in FA12D; CRM-positive phenotype, MIM: 234000</li><li>C->S at 590: in FA12D; Washington D.C.; inactive, MIM: 234000</li><li>Y->H at 605: in dbSNP:rs17876035, MIM: 234000</li>	secretion	GO:0046903						<li>Hereditary angioedema type 3 (HAE3) [MIM:610618]</li><li>Factor XII deficiency (FA12D) [MIM:234000]</li>	<li>rs17876034</li><li>rs17876030</li><li>rs17876035</li><li>rs2230939</li><li>rs2230938</li>	2
P00750	5327		<li>A->D at 34: in dbSNP:rs8178733</li><li>R->S at 136: in dbSNP rsrs8178747</li><li>A->T at 146: in dbSNP:rs8178748</li><li>R->W at 164: in dbSNP:rs2020921</li>									<li>rs8178748</li><li>rs2020921</li><li>rs8178747</li><li>rs8178733</li>	2
P00751	629		<li>L->H at 9: in dbSNP:rs4151667</li><li>W->Q at 28: in allele FA; requires 2 nucleotide substitutions</li><li>W->R at 28: in allele S</li><li>R->Q at 32: in allele S; dbSNP:rs641153</li><li>R->W at 32: in dbSNP:rs12614</li><li>G->S at 252: in dbSNP:rs4151651</li><li>K->E at 565: in dbSNP:rs4151659</li><li>D->E at 651: in dbSNP:rs4151660</li><li>A->S at 736: in allele FA</li>									<li>rs4151660</li><li>rs4151651</li><li>rs4151659</li><li>rs641153</li><li>rs4151667</li><li>rs12614</li>	2
P00790	5222		<li>L->F at 28: in isozyme 5</li><li>E->K at 58: in isozyme 3A, isozyme 4 and isozyme 5</li><li>V->L at 92: in isozyme 4 and isozyme 5</li><li>Q->K at 222</li><li>A->T at 265: in dbSNP rsrs470947</li><li>L->V at 353: in dbSNP:rs17595</li><li>D->E at 376</li>							P08682		<li>rs17595</li><li>rs470947</li>	2
P00797	5972		<li>R->W at 33: in dbSNP:rs11571098</li><li>D->N at 104: in RTD, MIM: 267430</li><li>Q->K at 160: in dbSNP:rs11571083, MIM: 267430</li><li>G->R at 217: in dbSNP:rs11571117, MIM: 267430</li><li>R->K at 230: in RTD, MIM: 267430</li>								Renal tubular dysgenesis (RTD) [MIM:267430]	<li>rs11571117</li><li>rs11571083</li><li>rs11571098</li>	2
P00813	100		<li>D->N at 8: in allele ADA*2; in about 10% of the population; 20% to 30% decrease in activity; affects duration and intensity of deep sleep</li><li>H->D at 15: in ADASCID; loss of activity, MIM: 102700</li><li>G->R at 20: in ADASCID; loss of activity, MIM: 102700</li><li>G->C at 74: in ADASCID; delayed-onset, MIM: 102700</li><li>R->W at 76: in ADASCID, MIM: 102700</li><li>K->R at 80: in dbSNP rsrs11555566, MIM: 102700</li><li>A->D at 83: in ADASCID; loss of activity, MIM: 102700</li><li>R->L at 101: in ADASCID, MIM: 102700</li><li>R->Q at 101: in ADASCID; loss of activity: in dbSNP rsrs28930970, MIM: 102700</li><li>R->W at 101: in ADASCID: in dbSNP rsrs28930969, MIM: 102700</li><li>L->P at 107: in ADASCID, MIM: 102700</li><li>V->M at 129: in ADASCID; delayed-onset, MIM: 102700</li><li>G->E at 140: in ADASCID, MIM: 102700</li><li>R->Q at 142: in ADASCID; 20% of activity; ADA deficiency of late onset, MIM: 102700</li><li>R->Q at 149: in ADASCID, MIM: 102700</li><li>R->W at 149: in ADASCID, MIM: 102700</li><li>L->M at 152: in ADASCID; 1,5% of activity, partial ADA deficiency: in dbSNP rsrs28930972, MIM: 102700</li><li>R->C at 156: in ADASCID: in dbSNP rsrs28930971, MIM: 102700</li><li>R->H at 156: in ADASCID, MIM: 102700</li><li>V->M at 177: in ADASCID; loss of activity, MIM: 102700</li><li>A->D at 179: in ADASCID; loss of activity, MIM: 102700</li><li>Q->P at 199: in ADASCID; delayed-onset, MIM: 102700</li><li>R->C at 211: in ADASCID; late onset, MIM: 102700</li><li>R->H at 211: in ADASCID, MIM: 102700</li><li>A->T at 215: in ADASCID, MIM: 102700</li><li>G->R at 216: in ADASCID; severe, MIM: 102700</li><li>T->I at 233: in ADASCID; 20% of activity, partial ADA deficiency: in dbSNP rsrs28930973, MIM: 102700</li><li>P->L at 274: in ADASCID, MIM: 102700</li><li>S->L at 291: in ADASCID, MIM: 102700</li><li>P->Q at 297: in ADASCID, MIM: 102700</li><li>L->R at 304: in ADASCID; loss of activity, MIM: 102700</li><li>A->V at 329: in ADASCID, MIM: 102700</li><li>Missing  at 337: in ADASCID, MIM: 102700</li>	sleep	GO:0030431					<li>Q5ZKP6</li><li>P56658</li><li>P00813</li>	Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	<li>rs28930969</li><li>rs28930973</li><li>rs28930971</li><li>rs28930972</li><li>rs11555566</li><li>rs28930970</li>	2
P00846			<li>A->T at 7</li><li>A->T at 11</li><li>I->V at 14</li><li>G->S at 16</li><li>T->S at 33</li><li>L->P at 37</li><li>T->I at 53</li><li>T->A at 59</li><li>M->T at 60</li><li>H->Y at 61</li><li>A->T at 80</li><li>H->Y at 90</li><li>T->A at 112</li><li>F->L at 117</li><li>I->V at 121</li><li>T->A at 133</li><li>A->T at 155</li><li>L->P at 156: in LS, MIM: 256000</li><li>L->R at 156: in NARP and LS, MIM: 551500</li><li>A->T at 177, MIM: 551500</li><li>T->A at 178, MIM: 551500</li><li>S->L at 182, MIM: 551500</li><li>I->T at 192: in LHON; possible rate primary mutation, MIM: 535000</li><li>I->V at 192, MIM: 535000</li><li>F->L at 193, MIM: 535000</li><li>I->T at 204, MIM: 535000</li><li>V->I at 213, MIM: 535000</li><li>L->P at 217: in LS and infantile bilateral striatal necrosis, MIM: 256000</li><li>S->G at 219, MIM: 256000</li>								<li>Neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP) [MIM:551500]</li><li>Leigh syndrome (LS) [MIM:256000]</li><li>Infantile bilateral striatal necrosis [MIM:500003]</li><li>Leber hereditary optic neuropathy (LHON) [MIM:535000]</li>		2
P00915	759		<li>H->R at 68: in Michigan-1</li><li>A->V at 143: in dbSNP:rs7821248</li><li>G->R at 254: in Guam</li>									rs7821248	2
P00918	760		<li>K->E at 18: in Jogjakarta</li><li>Q->P at 92: in OPTB3; in Czechoslovakia, MIM: 259730</li><li>H->Y at 94: in OPTB3; partial loss of activity, MIM: 259730</li><li>H->Y at 107: in OPTB3; frequent mutation, MIM: 259730</li><li>G->R at 144: in OPTB3; complete loss of activity, MIM: 259730</li><li>P->H at 236: in Melbourne, MIM: 259730</li><li>N->D at 252: in dbSNP:rs2228063, MIM: 259730</li>								Autosomal recessive osteopetrosis type 3 (OPTB3) [MIM:259730]	rs2228063	2
P00966	445		<li>G->S at 14: in CTLN1, MIM: 215700</li><li>S->L at 18: in CTLN1, MIM: 215700</li><li>C->R at 19: in CTLN1, MIM: 215700</li><li>S->I at 65: in dbSNP:rs2229556, MIM: 215700</li><li>V->A at 69: in CTLN1, MIM: 215700</li><li>R->C at 86: in CTLN1, MIM: 215700</li><li>R->H at 86: in CTLN1, MIM: 215700</li><li>R->S at 95: in CTLN1, MIM: 215700</li><li>P->S at 96: in CTLN1, MIM: 215700</li><li>R->L at 108: in CTLN1; dbSNP:rs35269064, MIM: 215700</li><li>G->D at 117: in CTLN1, MIM: 215700</li><li>G->S at 117: in CTLN1, MIM: 215700</li><li>A->T at 118: in CTLN1, MIM: 215700</li><li>T->I at 119: in CTLN1, MIM: 215700</li><li>R->C at 157: in CTLN1, MIM: 215700</li><li>R->H at 157: in CTLN1, MIM: 215700</li><li>W->R at 179: in CTLN1; mild, MIM: 215700</li><li>S->N at 180: in CTLN1, MIM: 215700</li><li>E->K at 191: in CTLN1, MIM: 215700</li><li>A->V at 192: in CTLN1, MIM: 215700</li><li>R->H at 265: in CTLN1, MIM: 215700</li><li>V->M at 269: in CTLN1, MIM: 215700</li><li>E->Q at 270: in CTLN1, MIM: 215700</li><li>R->C at 272: in CTLN1, MIM: 215700</li><li>R->Q at 279: in CTLN1, MIM: 215700</li><li>G->R at 280: in CTLN1, MIM: 215700</li><li>E->K at 283: in CTLN1, MIM: 215700</li><li>R->W at 304: in CTLN1, MIM: 215700</li><li>K->Q at 310: in CTLN1, MIM: 215700</li><li>K->R at 310: in CTLN1, MIM: 215700</li><li>G->S at 324: in CTLN1, MIM: 215700</li><li>G->V at 362: in CTLN1; mild, MIM: 215700</li><li>R->G at 363: in CTLN1, MIM: 215700</li><li>R->L at 363: in CTLN1, MIM: 215700</li><li>R->Q at 363: in CTLN1, MIM: 215700</li><li>R->W at 363: in CTLN1, MIM: 215700</li><li>T->I at 389: in CTLN1, MIM: 215700</li><li>G->R at 390: in CTLN1, MIM: 215700</li>								Citrullinemia type 1 (CTLN1) [MIM:215700]	<li>rs35269064</li><li>rs2229556</li>	2
P00995	6690		<li>L->F at 12: in HPC; dbSNP:rs35877720, MIM: 167800</li><li>L->P at 14: in HPC, MIM: 167800</li><li>N->S at 34: in HPC and TCP; may confer susceptibility to fibrocalculous pancreatic diabetes; dbSNP:rs17107315, MIM: 608189</li><li>P->S at 55, MIM: 608189</li><li>R->H at 67: in dbSNP:rs35523678, MIM: 608189</li>								<li>Tropical calcific pancreatitis (TCP) [MIM:608189]</li><li>Hereditary pancreatitis (HPC) [MIM:167800]</li>	<li>rs35523678</li><li>rs35877720</li><li>rs17107315</li>	2
P01011	12		<li>A->T at 9: in dbSNP:rs4934</li><li>L->P at 78: in COPD; Bochum-1; dbSNP:rs1800463, MIM: 107280</li><li>A->G at 167, MIM: 107280</li><li>P->A at 252: in COPD; Bonn-1; dbSNP:rs17473, MIM: 107280</li><li>K->R at 267: in dbSNP:rs17853314, MIM: 107280</li><li>M->V at 401: associated with occlusive-cerebrovascular disease; Isehara-1, MIM: 107280</li><li>D->G at 407: in dbSNP:rs10956, MIM: 107280</li>							<li>P53619</li><li>Q5RA77</li><li>P48444</li><li>Q5ZL57</li>	Chronic obstructive pulmonary disease (COPD) [MIM:107280]	<li>rs1800463</li><li>rs4934</li><li>rs17853314</li><li>rs10956</li><li>rs17473</li>	2
P01019	183		<li>L->F at 43: in pre-eclampsia; alters the reactions with renin and angiotensin-converting enzyme; dbSNP:rs41271499</li><li>E->K at 98: in dbSNP:rs11568032</li><li>G->C at 114: in dbSNP:rs2229389</li><li>T->M at 137: in dbSNP:rs34829218</li><li>T->M at 207: associated with hypertension; dbSNP:rs4762</li><li>T->I at 242: in hypertension</li><li>L->R at 244: in hypertension; dbSNP:rs5041</li><li>M->I at 268: in dbSNP:rs11568053</li><li>M->T at 268: associated with essential hypertension and pre-eclampsia; dbSNP:rs699</li><li>Y->C at 281: in hypertension; alters the structure, glycosylation and secretion of angiotensinogen: in dbSNP rsrs56073403</li><li>P->S at 335: in dbSNP:rs17856352</li><li>R->Q at 375: in RTD, MIM: 267430</li><li>L->M at 392: in dbSNP:rs1805090, MIM: 267430</li>	secretion	GO:0046903					<li>P67885</li><li>P67886</li><li>P01016</li><li>P01017</li><li>Q10751</li>	Renal tubular dysgenesis (RTD) [MIM:267430]	<li>rs1805090</li><li>rs5041</li><li>rs17856352</li><li>rs56073403</li><li>rs11568053</li><li>rs699</li><li>rs41271499</li><li>rs4762</li><li>rs11568032</li><li>rs2229389</li><li>rs34829218</li>	2
P01023	2		<li>D->N at 639: in dbSNP:rs226405</li><li>R->H at 704: in dbSNP:rs1800434</li><li>L->Q at 815: in dbSNP:rs3180392</li><li>C->Y at 972: probably interferes with the activity; dbSNP:rs1800433</li><li>V->I at 1000: in dbSNP:rs669</li>									<li>rs3180392</li><li>rs669</li><li>rs226405</li><li>rs1800434</li><li>rs1800433</li>	2
P01031	727		<li>V->I at 145: in dbSNP:rs17216529</li><li>L->M at 354: in dbSNP:rs34552775</li><li>T->I at 389</li><li>R->G at 449: in dbSNP:rs2230213</li><li>F->S at 518</li><li>V->I at 802: in dbSNP:rs17611</li><li>R->Q at 928: in dbSNP:rs41309892</li><li>G->V at 933: in dbSNP rsrs41309902</li><li>D->Y at 966: in dbSNP:rs2230212</li><li>I->T at 1033: in dbSNP:rs41311881</li><li>D->N at 1037: in dbSNP rsrs41311883</li><li>Q->K at 1043: in dbSNP:rs41311887</li><li>M->L at 1053: in dbSNP:rs17609</li><li>S->N at 1310: in dbSNP:rs17610</li><li>V->A at 1365: in dbSNP:rs16910245</li><li>E->D at 1437: in dbSNP:rs17612</li>									<li>rs41311887</li><li>rs34552775</li><li>rs17612</li><li>rs17609</li><li>rs2230212</li><li>rs2230213</li><li>rs41309892</li><li>rs41309902</li><li>rs16910245</li><li>rs17216529</li><li>rs41311883</li><li>rs17610</li><li>rs17611</li><li>rs41311881</li>	2
P01036	1472		<li>D->N at 36: in dbSNP:rs3210291</li><li>T->N at 77: in a breast cancer sample; somatic mutation</li>									rs3210291	2
P01037	1469		<li>H->Y at 4: in dbSNP:rs6076122</li><li>P->L at 31: in dbSNP:rs2070856</li><li>N->D at 129: in dbSNP:rs3188319</li><li>R->M at 131: in dbSNP:rs3188320</li><li>K->N at 135: in dbSNP:rs3188322</li>									<li>rs3188319</li><li>rs6076122</li><li>rs2070856</li><li>rs3188322</li><li>rs3188320</li>	2
P01040	1475		<li>Missing  at 1: in some forms</li><li>T->M at 96: in dbSNP:rs34173813</li>									rs34173813	2
P01042	3827		<li>G->S at 163: in dbSNP:rs5030015</li><li>M->T at 178: in dbSNP:rs1656922</li><li>I->M at 197: in dbSNP:rs2304456</li><li>L->P at 212: in dbSNP:rs5030024</li><li>Missing  at 378-380: in T-kinin peptide</li><li>D->E at 430: in dbSNP:rs5030084</li><li>I->T at 581: in dbSNP:rs710446</li><li>G->A at 642: in dbSNP:rs5030087</li>									<li>rs5030015</li><li>rs5030087</li><li>rs710446</li><li>rs2304456</li><li>rs5030084</li><li>rs5030024</li><li>rs1656922</li>	2
P01106	4609		<li>N->S at 11: in dbSNP:rs4645959</li><li>G->C at 160: in dbSNP:rs4645960</li><li>V->I at 170: in dbSNP:rs4645961</li><li>A->V at 322: in dbSNP:rs4645968</li>									<li>rs4645968</li><li>rs4645961</li><li>rs4645960</li><li>rs4645959</li>	2
P01127	5155		<li>I->V at 88: in dbSNP:rs17565</li>									rs17565	2
P01130	3949		<li>G->R at 2: in dbSNP:rs5931</li><li>C->W at 27: in San Francisco</li><li>C->S at 46: in FH; Japanese patient, MIM: 143890</li><li>Missing  at 47-48: in Cape Town-1; retards receptor transport from the endoplasmic reticulum to the cell surface, MIM: 143890</li><li>A->S at 50: in FH; German patient, MIM: 143890</li><li>C->Y at 52: in Paris-4, MIM: 143890</li><li>S->P at 56: in FH, MIM: 143890</li><li>R->C at 78: in FH, MIM: 143890</li><li>W->G at 87: in French Canadian-4, MIM: 143890</li><li>C->Y at 89: in FH, MIM: 143890</li><li>D->G at 90: in London-4, MIM: 143890</li><li>D->N at 90: in FH, MIM: 143890</li><li>D->Y at 90: in Durban-1, MIM: 143890</li><li>Q->E at 92: in FH; Spanish patient, MIM: 143890</li><li>C->G at 95: in FH; Spanish patient, MIM: 143890</li><li>E->K at 101: in Lancashire; 6% of American English, MIM: 143890</li><li>C->R at 109: in Munster-1, MIM: 143890</li><li>C->R at 116: in FH; Spanish patient, MIM: 143890</li><li>E->K at 140: in Philippines/Durban-2/Japan, MIM: 143890</li><li>C->G at 155: in Germany, MIM: 143890</li><li>C->Y at 160: in FH, MIM: 143890</li><li>D->H at 168: in Sephardic/Safed; 10% of the Sephardic Jews, MIM: 143890</li><li>D->N at 168: in FH, MIM: 143890</li><li>D->Y at 168: in FH; Norwegian patient, MIM: 143890</li><li>D->H at 172: may contribute to familial hypercholesterolemia, MIM: 143890</li><li>C->R at 173: in Greece-1, MIM: 143890</li><li>C->W at 173: in FH; French Canadian patient, MIM: 143890</li><li>D->N at 175: in Afrikaner-3; 5-10% of Afrikaners, MIM: 143890</li><li>D->Y at 175: in FH, MIM: 143890</li><li>S->L at 177: in Puerto Rico, MIM: 143890</li><li>C->Y at 184: in FH; Glasco, MIM: 143890</li><li>C->F at 197: in Shreveport, MIM: 143890</li><li>C->R at 197: in FH; British patient, MIM: 143890</li><li>C->Y at 197: in El Salvador-1, MIM: 143890</li><li>Missing  at 218: in Piscataway/Lithuania, MIM: 143890</li><li>D->G at 221: in Padova, MIM: 143890</li><li>D->N at 221: in FH; German patient, MIM: 143890</li><li>D->Y at 221: in FH; Cologne patient, MIM: 143890</li><li>D->G at 224: in Italy-2, MIM: 143890</li><li>D->N at 224: in Portugal, MIM: 143890</li><li>D->V at 224: in FH; Cologne patient, MIM: 143890</li><li>S->P at 226: in Miami-1, MIM: 143890</li><li>D->E at 227: in Afrikaner-1/Maine; 65-70% of Afrikaner Americans, MIM: 143890</li><li>E->CK at 228: in Chieti-3, MIM: 143890</li><li>E->K at 228: in French Canadian-3/Mexico; 2% of French Canadians, MIM: 143890</li><li>E->Q at 228: in Tulsa-2, MIM: 143890</li><li>C->G at 231: in FH; Norwegian patient, MIM: 143890</li><li>E->K at 240: in Charlotte, MIM: 143890</li><li>C->F at 248: in Bretagne-1, MIM: 143890</li><li>C->Y at 248: in FH; British patient, MIM: 143890</li><li>R->W at 253: may contribute to familial hypercholesterolemia, MIM: 143890</li><li>D->G at 256: in Nevers, MIM: 143890</li><li>C->F at 261: in FH; rare mutation; strongly reduced receptor activity, MIM: 143890</li><li>D->E at 266: in Cincinnati-1, MIM: 143890</li><li>C->Y at 270: in Miami-2, MIM: 143890</li><li>C->Y at 276: in FH; Syrian patient, MIM: 143890</li><li>E->K at 277: in FH; patients from Sweden and La Havana, MIM: 143890</li><li>S->R at 286: in Greece-2, MIM: 143890</li><li>E->K at 288: in FH; German patient, MIM: 143890</li><li>D->A at 301: in FH; Greek patient, MIM: 143890</li><li>C->W at 302: in FH; Iraki patient, MIM: 143890</li><li>C->Y at 302: in FH; Spanish patient, MIM: 143890</li><li>D->E at 304: in Baltimore-1, MIM: 143890</li><li>D->N at 304: in Denver-2, MIM: 143890</li><li>S->L at 306: in Amsterdam: in dbSNP rsrs11547917, MIM: 143890</li><li>C->Y at 313: in FH, MIM: 143890</li><li>C->F at 318: in Trieste, MIM: 143890</li><li>C->Y at 318: in Mexico-1; leads to a defect in the intracellular transport of the receptor, MIM: 143890</li><li>H->Y at 327: in FH, MIM: 143890</li><li>C->Y at 329: in FH; Chinese patient, MIM: 143890</li><li>G->S at 335: in Paris-6, MIM: 143890</li><li>C->S at 338: in FH; Japanese patients, MIM: 143890</li><li>D->E at 342: in New York-1, MIM: 143890</li><li>D->N at 342: in FH, MIM: 143890</li><li>G->S at 343: in Picardie, MIM: 143890</li><li>R->P at 350: in FH; British patient, MIM: 143890</li><li>C->Y at 352: in Mexico-2, MIM: 143890</li><li>D->G at 354: in Munster-2, MIM: 143890</li><li>D->V at 354: in Oklahoma, MIM: 143890</li><li>D->Y at 356: in FH, MIM: 143890</li><li>E->K at 357: in Paris-7, MIM: 143890</li><li>C->R at 364: in Mexico-3, MIM: 143890</li><li>Q->R at 366: in FH, MIM: 143890</li><li>C->R at 368: in FH; French Canadian patient, MIM: 143890</li><li>C->R at 379: in Naples-1, MIM: 143890</li><li>C->Y at 379: in FH, MIM: 143890</li><li>A->T at 391: in dbSNP:rs11669576, MIM: 143890</li><li>A->D at 399: in FH, MIM: 143890</li><li>L->H at 401: in Pori, MIM: 143890</li><li>L->V at 401: in FH, MIM: 143890</li><li>F->L at 403: in FH; Japanese patient, MIM: 143890</li><li>R->Q at 406: may contribute to familial hypercholesterolemia, MIM: 143890</li><li>E->K at 408: in Algeria-1; may contribute to familial hypercholesterolemia, MIM: 143890</li><li>L->R at 414: in FH; Chinese patient, MIM: 143890</li><li>R->Q at 416: in FH; German patient, MIM: 143890</li><li>R->W at 416: in FH, MIM: 143890</li><li>I->T at 423: in FH; Swedish patient, MIM: 143890</li><li>V->M at 429: in Afrikaner-2; 20-30% of Afrikaners and 2% of FH Dutch: in dbSNP rsrs28942078, MIM: 143890</li><li>A->T at 431: in Algeria-2: in dbSNP rsrs28942079, MIM: 143890</li><li>L->V at 432: in FH; German patient, MIM: 143890</li><li>D->H at 433: in Osaka-3, MIM: 143890</li><li>T->K at 434: in Algeria-3, MIM: 143890</li><li>I->M at 441: in Rouen, MIM: 143890</li><li>I->N at 441: in Russia-1, MIM: 143890</li><li>W->C at 443: in North Platt, MIM: 143890</li><li>V->I at 468: in dbSNP:rs5932, MIM: 143890</li><li>G->R at 478: in New York-2, MIM: 143890</li><li>D->H at 482: in FH, MIM: 143890</li><li>W->R at 483: in FH, MIM: 143890</li><li>H->R at 485: in Milan, MIM: 143890</li><li>Missing  at 487: in FH; Norwegian patient, MIM: 143890</li><li>V->M at 523: in Kuwait: in dbSNP rsrs28942080, MIM: 143890</li><li>P->S at 526: in Cincinnati-3, MIM: 143890</li><li>G->D at 546: in Saint Omer: in dbSNP rsrs28942081, MIM: 143890</li><li>G->D at 549: in Genoa: in dbSNP rsrs28941776, MIM: 143890</li><li>N->H at 564: in FH; French, German and Danish patients: in dbSNP rsrs28942086, MIM: 143890</li><li>N->S at 564: in Sicily, MIM: 143890</li><li>G->V at 565: in Naples-2: in dbSNP rsrs28942082, MIM: 143890</li><li>L->V at 568: in FH; Japanese patient, MIM: 143890</li><li>D->N at 579: in Cincinnati-4; less than 2% receptor activity, MIM: 143890</li><li>G->E at 592: in Sicily, MIM: 143890</li><li>L->S at 599: in London-5, MIM: 143890</li><li>P->S at 608: in FH, MIM: 143890</li><li>R->C at 633: in FH, MIM: 143890</li><li>P->L at 649: in FH, MIM: 143890</li><li>C->Y at 667: in French Canadian-2; 5% of French Canadians: in dbSNP rsrs28942083, MIM: 143890</li><li>C->R at 677: in New York-3, MIM: 143890</li><li>L->P at 682: in Issoire, MIM: 143890</li><li>P->L at 685: in Gujerat/Zambia/Belgian/Dutch/Sweden/Japan: in dbSNP rsrs28942084, MIM: 143890</li><li>P->L at 699: may contribute to familial hypercholesterolemia, MIM: 143890</li><li>D->E at 700: in FH; Spanish patient, MIM: 143890</li><li>E->K at 714: in FH; Japanese patient, MIM: 143890</li><li>T->I at 726: in Paris-9: in dbSNP rsrs45508991, MIM: 143890</li><li>I->F at 792: in Russia-2, MIM: 143890</li><li>V->M at 797: in FH; La Havana patient, MIM: 143890</li><li>Missing  at 799-801: in FH; Danish patient, MIM: 143890</li><li>R->Q at 814: polymorphism that may contribute to FH; dbSNP:rs5928, MIM: 143890</li><li>Missing  at 820-822: in FH, MIM: 143890</li><li>V->I at 827: in New York-5, MIM: 143890</li><li>Y->C at 828: in J.D.Bari/Syria: in dbSNP rsrs28942085, MIM: 143890</li><li>G->D at 844: in Turku, MIM: 143890</li>	<li>transport</li><li>intracellular transport</li>	<li>GO:0006810</li><li>GO:0046907</li>	receptor activity	GO:0004872	<li>endoplasmic reticulum</li><li>cell surface</li>	<li>GO:0005783</li><li>GO:0009928,GO:0009986</li>		Familial hypercholesterolemia (FH) [MIM:143890]	<li>rs5932</li><li>rs45508991</li><li>rs5931</li><li>rs5928</li><li>rs11669576</li><li>rs28942078</li><li>rs28942079</li><li>rs28942085</li><li>rs28942084</li><li>rs11547917</li><li>rs28942086</li><li>rs28942081</li><li>rs28942080</li><li>rs28942083</li><li>rs28942082</li><li>rs28941776</li>	2
P01133	1950		<li>S->R at 16: in dbSNP:rs11568849</li><li>H->Y at 151: in dbSNP:rs9991664</li><li>D->H at 257: in dbSNP:rs11568911</li><li>L->H at 292: in dbSNP:rs35191533</li><li>R->K at 431: in dbSNP:rs11568943</li><li>S->R at 638: in dbSNP:rs11568992</li><li>I->M at 708: in dbSNP rsrs2237051</li><li>G->R at 723: in dbSNP:rs6413481</li><li>D->V at 784: in dbSNP:rs11569017</li><li>M->T at 842: in dbSNP:rs11569046</li><li>V->E at 920: in dbSNP rsrs4698803</li><li>D->E at 981: in dbSNP:rs11569086</li><li>L->F at 1043: in dbSNP:rs11569098</li><li>P->L at 1070: in HOMG4; affects basolateral sorting of pro-EGF preventing the hormone to stimulate EGFR; lack of TRPM6 activation, MIM: 611718</li><li>A->G at 1084: in dbSNP:rs11569111, MIM: 611718</li>							<li>Q9BEA0</li><li>P26224</li><li>Q9BX84</li><li>P55245</li><li>P01132</li><li>P13387</li><li>P01133</li><li>Q95ND4</li><li>P00533</li><li>Q00968</li><li>P07522</li>	Hypomagnesemia type 4 (HOMG4) [MIM:611718]	<li>rs11568849</li><li>rs11569046</li><li>rs11568943</li><li>rs6413481</li><li>rs11569086</li><li>rs11569111</li><li>rs11568992</li><li>rs11568911</li><li>rs11569098</li><li>rs2237051</li><li>rs9991664</li><li>rs4698803</li><li>rs35191533</li><li>rs11569017</li>	2
P01135	7039		<li>V->M at 109: in dbSNP:rs11466259</li>									rs11466259	2
P01137	7040		<li>L->P at 10: associated with higher bone mineral density and lower frequency of vertebral fractures in Japanese post-menopausal women; dbSNP:rs1800470</li><li>R->P at 25: in dbSNP:rs1800471</li><li>Y->H at 81: in CED; leads to TGF-beta-1 intracellular accumulation, MIM: 131300</li><li>R->C at 218: in CED; higher levels of active TGF-beta-1 in the culture medium; enhances osteoclast formation in vitro, MIM: 131300</li><li>R->H at 218: in CED, MIM: 131300</li><li>H->D at 222: in CED; sporadic case; higher levels of active TGF-beta-1 in the culture medium, MIM: 131300</li><li>C->R at 225: in CED; higher levels of active TGF-beta-1 in the culture medium, MIM: 131300</li><li>T->I at 263: in dbSNP:rs1800472, MIM: 131300</li>					intracellular	GO:0005622	<li>P54831</li><li>P07200</li><li>Q9PTQ2</li><li>O93449</li><li>Q38HS2</li><li>P09533</li><li>P17246</li><li>P04202</li><li>P18341</li><li>O19011</li><li>P50414</li><li>P09531</li><li>Q9Z1Y6</li><li>P01137</li><li>P16176</li>	Camurati-Engelmann disease (CED) [MIM:131300]	<li>rs1800471</li><li>rs1800472</li><li>rs1800470</li>	2
P01138	4803		<li>A->V at 35: in dbSNP:rs6330</li><li>V->M at 72: in dbSNP:rs11466110</li><li>R->Q at 80: in dbSNP:rs11466111</li><li>R->W at 221: in HSAN5; dbSNP:rs11466112, MIM: 608654</li>								Hereditary sensory and autonomic neuropathy type 5 (HSAN5) [MIM:608654]	<li>rs11466110</li><li>rs11466112</li><li>rs11466111</li><li>rs6330</li>	2
P01148	2796		<li>W->S at 16: in dbSNP:rs6185</li>									rs6185	2
P01160	4878		<li>V->M at 32: in dbSNP:rs5063</li><li>Missing  at 152-153: in allele 2</li>									rs5063	2
P01185	551		<li>S->F at 17: in ADNDI, MIM: 125700</li><li>A->T at 19: in ADNDI; probably causes insufficient processing of precursor, MIM: 125700</li><li>A->V at 19: in ADNDI, MIM: 125700</li><li>Y->H at 21: in ADNDI, MIM: 125700</li><li>P->L at 26: in ARNDI; weakly active, MIM: 125700</li><li>G->R at 45: in ADNDI, MIM: 125700</li><li>G->V at 48: in ADNDI, MIM: 125700</li><li>R->C at 51: in ADNDI, MIM: 125700</li><li>C->R at 52: in ADNDI, MIM: 125700</li><li>G->R at 54: in ADNDI, MIM: 125700</li><li>G->V at 54: in ADNDI, MIM: 125700</li><li>P->L at 55: in ADNDI, MIM: 125700</li><li>C->F at 58: in ADNDI, MIM: 125700</li><li>C->R at 59: in ADNDI, MIM: 125700</li><li>C->Y at 59: in ADNDI, MIM: 125700</li><li>V->A at 67: in ADNDI: in dbSNP rsrs28934878, MIM: 125700</li><li>E->G at 78: in ADNDI, MIM: 125700</li><li>Missing  at 78: in ADNDI, MIM: 125700</li><li>L->P at 81: in ADNDI: in dbSNP rsrs5195, MIM: 125700</li><li>P->L at 82: in dbSNP:rs5195, MIM: 125700</li><li>S->F at 87: in ADNDI, MIM: 125700</li><li>G->R at 88: in ADNDI, MIM: 125700</li><li>G->S at 88: in ADNDI, MIM: 125700</li><li>C->S at 92: in ADNDI, MIM: 125700</li><li>C->Y at 92: in ADNDI, MIM: 125700</li><li>G->W at 93: in ADNDI, MIM: 125700</li><li>G->C at 96: in ADNDI, MIM: 125700</li><li>G->D at 96: in ADNDI, MIM: 125700</li><li>G->V at 96: in ADNDI, MIM: 125700</li><li>R->C at 97: in ADNDI, MIM: 125700</li><li>R->P at 97: in ADNDI, MIM: 125700</li><li>C->G at 98: in ADNDI, MIM: 125700</li><li>C->S at 98: in ADNDI, MIM: 125700</li><li>A->P at 99: in ADNDI, MIM: 125700</li><li>C->F at 104: in ADNDI, MIM: 125700</li><li>C->G at 104: in ADNDI, MIM: 125700</li><li>C->R at 105: in ADNDI, MIM: 125700</li><li>C->Y at 105: in ADNDI, MIM: 125700</li><li>C->G at 116: in ADNDI; strong accumulation in the endoplasmic reticulum and an altered morphology of this organelle, MIM: 125700</li><li>C->R at 116: in ADNDI, MIM: 125700</li><li>C->W at 116: in ADNDI, MIM: 125700</li><li>G->V at 119: in dbSNP:rs1051744, MIM: 125700</li>					endoplasmic reticulum	GO:0005783		<li>Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]</li><li>Autosomal recessive neurohypophyseal diabetes insipidus (ARNDI) [MIM:125700]</li>	<li>rs28934878</li><li>rs1051744</li><li>rs5195</li>	2
P01189	5443		<li>S->T at 7</li><li>S->L at 9</li><li>P->L at 62: in dbSNP:rs28932471</li><li>Missing at 97-99</li><li>D->N at 106</li><li>P->A at 132: in dbSNP:rs8192606</li><li>E->G at 214</li><li>R->G at 236: may confer susceptibility to obesity; reduces the ability to activate melanocortin receptor 4; dbSNP:rs28932472</li><li>R->Q at 236</li>							<li>Q0Z8I9</li><li>P70596</li><li>O97504</li><li>Q9GLJ8</li><li>P32245</li><li>Q8HXX3</li><li>P56450</li>		<li>rs28932471</li><li>rs28932472</li><li>rs8192606</li>	2
P01210	5179		<li>T->N at 83: in dbSNP:rs11998459</li><li>G->D at 247: in dbSNP:rs1800567</li>									<li>rs11998459</li><li>rs1800567</li>	2
P01225	2488		<li>S->I at 20: in dbSNP:rs6170</li><li>C->G at 69: in IFSHD; dbSNP:rs5030776, MIM: 229070</li>								Isolated follicle-stimulating hormone deficiency (IFSHD) [MIM:229070]	<li>rs5030776</li><li>rs6170</li>	2
P01229	3972		<li>M->I at 15: in dbSNP:rs34247911</li><li>A->T at 18: more effective in stimulating IP3 but not cAMP production; dbSNP:rs5030775</li><li>W->R at 28: in dbSNP:rs1800447</li><li>I->T at 35: in dbSNP:rs34349826</li><li>Q->R at 74: in hypogonadism; lack of receptor-binding; dbSNP:rs5030773, MIM: 152780</li><li>G->S at 122: may be implicated in female infertility; dbSNP:rs5030774, MIM: 152780</li>			receptor-binding	GO:0005102				Hypogonadism [MIM:152780]	<li>rs1800447</li><li>rs34247911</li><li>rs34349826</li><li>rs5030773</li><li>rs5030774</li>	2
P01233	1082		<li>F->L at 4: in dbSNP:rs6516</li><li>T->A at 18</li><li>K->R at 22: in dbSNP:rs6518</li><li>P->M at 24: requires 2 nucleotide substitutions</li><li>R->W at 28</li><li>R->H at 30</li><li>T->I at 35: in dbSNP:rs6515</li><li>N->D at 97: in dbSNP:rs6519</li><li>D->A at 137: in gene 6; dbSNP:rs7452</li><li>S->C at 147</li>									<li>rs6515</li><li>rs6516</li><li>rs6518</li><li>rs6519</li>	2
P01241	2688		<li>T->A at 3: in IGHD IB; could be a neutral polymorphism; dbSNP:rs2001345, MIM: 262400</li><li>L->P at 16: in IGHD IB; suppresses secretion, MIM: 262400</li><li>D->N at 37: in IGHD IB, MIM: 262400</li><li>R->C at 42: in IGHD IB; reduced secretion, MIM: 262400</li><li>T->I at 53: in IGHD IB; reduced ability to activate the JAK/STAT pathway, MIM: 262400</li><li>K->R at 67: in IGHD IB; reduced ability to activate the JAK/STAT pathway, MIM: 262400</li><li>N->D at 73: in IGHD IB; reduced ability to activate the JAK/STAT pathway, MIM: 262400</li><li>C->S at 79: in short stature; idiopathic autosomal; affects binding affinity of GH for GHR and the potency of GH to activate the JAK2/STAT5 signaling pathway, MIM: 604271</li><li>S->F at 97: in IGHD IB; reduced ability to activate the JAK/STAT pathway, MIM: 262400</li><li>E->K at 100: in IGHD IB, MIM: 262400</li><li>R->C at 103: in Kowarski syndrome; loss of activity, MIM: 262650</li><li>S->C at 105: in dbSNP:rs6174, MIM: 262650</li><li>Q->L at 117: in IGHD IB; reduced secretion, MIM: 262400</li><li>S->C at 134: in IGHD IB, MIM: 262400</li><li>S->R at 134: in IGHD IB; reduced ability to activate the JAK/STAT pathway, MIM: 262400</li><li>V->I at 136: in dbSNP:rs5388, MIM: 262400</li><li>D->G at 138: in Kowarski syndrome; loss of activity, MIM: 262650</li><li>T->A at 201: in IGHD IB; reduced ability to activate the JAK/STAT pathway, MIM: 262400</li><li>I->M at 205: in short stature; idiopathic autosomal, MIM: 604271</li><li>R->H at 209: in IGHD II, MIM: 173100</li>	secretion	GO:0046903	<li>JAK</li><li>binding</li>	<li>GO:0004718</li><li>GO:0005488</li>			<li>P35610</li><li>Q7QDU4</li><li>Q90375</li><li>P19941</li><li>P10912</li><li>P42231</li><li>P08457</li><li>O46600</li><li>Q95JF2</li><li>P42229</li><li>Q9TU69</li><li>P79108</li><li>O60674</li><li>Q9JI97</li><li>P79194</li><li>Q95ML5</li><li>Q9XSZ1</li><li>P01880</li><li>Q02092</li><li>P19756</li><li>Q28575</li>	<li>Short stature [MIM:604271]</li><li>Isolated growth hormone deficiency type II (IGHD II) [MIM:173100]</li><li>Kowarski syndrome [MIM:262650]</li><li>Isolated growth hormone deficiency type IB (IGHD IB) [MIM:262400]</li>	<li>rs6174</li><li>rs5388</li><li>rs2001345</li>	2
P01242	2689		<li>R->W at 90: in dbSNP:rs5389</li>									rs5389	2
P01243	1442		<li>P->A at 3: in CSH2; dbSNP:rs1130686</li><li>IS->L at 104-105: in CSH2</li>							<li>P01243</li><li>P19159</li><li>P14059</li>			2
P01258	796		<li>G->R at 2: in dbSNP rsrs34587547</li><li>D->N at 57: in dbSNP:rs5239</li><li>E->K at 67: in dbSNP rsrs34164367</li><li>S->R at 76: in dbSNP:rs5241</li><li>S->T at 123: in dbSNP rsrs34414857</li><li>Q->P at 138: in dbSNP:rs13306224</li>									<li>rs34587547</li><li>rs5241</li><li>rs34164367</li><li>rs13306224</li><li>rs34414857</li><li>rs5239</li>	2
P01266	7038		<li>Q->H at 135: in dbSNP:rs2069546</li><li>Q->E at 515: in dbSNP:rs180222</li><li>S->D at 604: requires 2 nucleotide substitutions</li><li>G->D at 653: in dbSNP:rs2069548</li><li>S->A at 734: polymorphism associated with AITD3; dbSNP:rs180223</li><li>P->L at 777: in dbSNP:rs3739274</li><li>G->R at 815: in dbSNP:rs16904774</li><li>Q->E at 830: in dbSNP:rs2076737</li><li>Q->H at 870: in goiter; simple; dbSNP:rs2229843, MIM: 188450</li><li>Missing at 985, MIM: 188450</li><li>R->P at 988: in dbSNP:rs16893332, MIM: 188450</li><li>M->V at 1028: polymorphism associated with AITD3; dbSNP:rs853326, MIM: 188450</li><li>H->Y at 1043, MIM: 188450</li><li>I->T at 1059, MIM: 188450</li><li>L->M at 1063: in dbSNP:rs11992497, MIM: 188450</li><li>S->L at 1222: in dbSNP:rs12549018, MIM: 188450</li><li>C->R at 1264: in goiter; autosomal recessive; dbSNP:rs2076738, MIM: 188450</li><li>D->G at 1312: in dbSNP:rs2069556, MIM: 188450</li><li>W->R at 1437: in dbSNP:rs2069558, MIM: 188450</li><li>P->H at 1463, MIM: 188450</li><li>T->K at 1740: in dbSNP:rs16904791, MIM: 188450</li><li>D->N at 1838: in dbSNP:rs2069561, MIM: 188450</li><li>A->T at 1936: in dbSNP:rs2069562, MIM: 188450</li><li>R->W at 1979: polymorphism associated with AITD3, MIM: 188450</li><li>C->S at 1996: in goiter; autosomal recessive: in dbSNP rsrs2076739, MIM: 188450</li><li>R->W at 1999: in dbSNP:rs2076740, MIM: 188450</li><li>D->E at 2091, MIM: 188450</li><li>P->L at 2149, MIM: 188450</li><li>Q->R at 2170: in dbSNP:rs2069565, MIM: 188450</li><li>R->H at 2242: in dbSNP:rs2069566, MIM: 188450</li><li>R->H at 2455: in dbSNP:rs2272707, MIM: 188450</li><li>L->P at 2469: in dbSNP:rs2069568, MIM: 188450</li><li>W->R at 2501: in dbSNP:rs2069569, MIM: 188450</li><li>F->L at 2526: in dbSNP:rs12114109, MIM: 188450</li><li>R->Q at 2530: in dbSNP:rs1133076, MIM: 188450</li><li>N->S at 2616: in dbSNP:rs10091530, MIM: 188450</li>								Goiter [MIM:188450]	<li>rs2076739</li><li>rs2076738</li><li>rs2076737</li><li>rs180223</li><li>rs2069562</li><li>rs180222</li><li>rs2069561</li><li>rs2069548</li><li>rs12549018</li><li>rs2069546</li><li>rs16893332</li><li>rs3739274</li><li>rs16904791</li><li>rs2069568</li><li>rs1133076</li><li>rs2069569</li><li>rs16904774</li><li>rs2069565</li><li>rs2069566</li><li>rs2272707</li><li>rs2076740</li><li>rs2229843</li><li>rs853326</li><li>rs10091530</li><li>rs11992497</li><li>rs2069558</li><li>rs12114109</li><li>rs2069556</li>	2
P01270	5741		<li>C->R at 18: in FIH; dominant; leads to inefficient processing of the precursor, MIM: 146200</li><li>S->P at 23: in FIH; recessive, might lead to inefficient processing of the precursor, MIM: 146200</li>								Familial isolated hypoparathyroidism (FIH) [MIM:146200]		2
P01275	2641		<li>A->V at 115: in dbSNP:rs5650</li>									rs5650	2
P01286	2691		<li>Y->C at 32: in dbSNP:rs17787698</li><li>L->F at 75: in dbSNP:rs4988492</li>									<li>rs4988492</li><li>rs17787698</li>	2
P01298	5539		<li>E->G at 78: in dbSNP:rs7215698</li>									rs7215698	2
P01303	4852		<li>L->P at 7: in dbSNP:rs16139</li><li>L->M at 22: in dbSNP:rs5571</li>									<li>rs16139</li><li>rs5571</li>	2
P01308	3630		<li>H->D at 34: in familial hyperproinsulinemia; Providence, MIM: 176730</li><li>F->S at 48: associated with diabetes mellitus type-II; Los-Angeles, MIM: 176730</li><li>F->L at 49: in Chicago, MIM: 176730</li><li>R->H at 89: in familial hyperproinsulinemia; impairs posttranslational cleavage: in dbSNP rsrs28933985, MIM: 176730</li><li>R->L at 89: in familial hyperproinsulinemia; Kyoto, MIM: 176730</li><li>V->L at 92: in Wakayama, MIM: 176730</li>								Familial hyperproinsulinemia [MIM:176730]	rs28933985	2
P01343	3479		<li>A->T at 115: in dbSNP:rs17884626</li>									rs17884626	2
P01344	3481		<li>K->N at 120: in dbSNP:rs14367</li><li>P->Q at 173: in dbSNP:rs1050342</li><li>K->N at 180: in dbSNP:rs12993</li>									<li>rs1050342</li><li>rs12993</li><li>rs14367</li>	2
P01374	4049		<li>C->R at 13: in dbSNP:rs2229094</li><li>H->P at 51: in dbSNP:rs2229092</li><li>T->N at 60: in allele TNFB*2; dbSNP:rs1041981</li><li>T->P at 125: in allele 8.1</li>							<li>Q9XT48</li><li>Q5TM20</li><li>P61125</li><li>P01374</li><li>P26445</li><li>Q5WR07</li><li>P10154</li><li>Q06600</li><li>Q9JM09</li>		<li>rs2229092</li><li>rs2229094</li><li>rs1041981</li>	2
P01562	3439		<li>V->A at 10: in dbSNP:rs1758567</li><li>A->V at 137: in alpha-1B; dbSNP:rs2230050</li><li>A->G at 163: in dbSNP:rs33965070</li>									<li>rs33965070</li><li>rs1758567</li>	2
P01563			<li>K->R at 46: in alpha-2B and alpha-2C</li><li>H->R at 57: in alpha-2C</li><li>S->L at 177: in a breast cancer sample; somatic mutation</li>										2
P01566	3446		<li>G->A at 42: in dbSNP:rs2230853</li>									rs2230853	2
P01568	3452		<li>L->M at 119: in dbSNP:rs1053885</li><li>K->E at 179: in dbSNP:rs3750478</li>									<li>rs3750478</li><li>rs1053885</li>	2
P01571	3451		<li>I->R at 184: in dbSNP:rs9298814</li>									rs9298814	2
P01574	3456		<li>C->Y at 162: in clone PF526, loss of ability to form the essential disulfide bond, loss of antiviral activity</li><li>W->C at 164: in a breast cancer sample; somatic mutation</li>										2
P01579	3458		<li>K->Q at 29</li><li>R->Q at 160</li>										2
P01583	3552		<li>R->Q at 85: in dbSNP:rs3783531</li><li>A->S at 114: in dbSNP:rs17561</li><li>N->D at 125: in dbSNP:rs17562</li><li>D->N at 138: in dbSNP:rs3783581</li><li>D->H at 176: in dbSNP:rs1801715</li>									<li>rs3783531</li><li>rs3783581</li><li>rs17562</li><li>rs1801715</li><li>rs17561</li>	2
P01588	2056		<li>SL->NF at 131-132: in an hepatocellular carcinoma</li><li>P->Q at 149: in an hepatocellular carcinoma</li>										2
P01589	3559		<li>I->T at 272: in dbSNP:rs12722712</li>									rs12722712	2
P01774			<li>N->D at 54: probably due to deamidation during isolation</li>										2
P01833	5284		<li>G->S at 365: in dbSNP:rs2275531</li><li>T->I at 555: in dbSNP:rs7542760</li><li>A->V at 580: in dbSNP:rs291102</li>									<li>rs291102</li><li>rs7542760</li><li>rs2275531</li>	2
P01834			<li>V->L at 83: in INV</li>							<li>Q6JAN1</li><li>Q9Y283</li><li>Q6BJW6</li><li>P27610</li><li>P24133</li>			2
P01842			<li>A->N at 5: in MCG+ marker</li><li>S->T at 7: in MCG+ marker</li><li>S->G at 45: in Kern+ marker</li><li>T->K at 56: in MCG+ marker</li><li>R->K at 82: in OZ+ marker</li>										2
P01854			<li>W->C at 43: in allele IGHE*01</li><li>W->L at 359: possible polymorphism</li>							P01854			2
P01857			<li>K->R at 97: in G1M</li><li>D->E at 239: in G1M</li><li>L->M at 241: in G1M</li>										2
P01859			<li>S->A at 60: in myeloma proteins TIL and ZIE</li>							<li>Q9EPQ1</li><li>Q15399</li>			2
P01860			<li>V->B at 214: in ZUC</li><li>P->L at 221: in OMM</li><li>Y->F at 226: in ZUC</li><li>T->A at 269: in OMM</li><li>S->N at 314: in OMM</li><li>Missing  at 314: in ZUC</li><li>F->Y at 366: in OMM</li>										2
P01871			<li>G->S at 191</li><li>V->G at 215: in dbSNP:rs12365</li>									rs12365	2
P01876			<li>E->D at 176: in dbSNP:rs1407</li>									rs1407	2
P01877			<li>P->S at 93: in A2M</li><li>P->R at 102: in A2M</li><li>F->Y at 279: in A2M</li><li>D->E at 296: in A2M</li><li>V->I at 326: in A2M</li><li>V->A at 335: in A2M</li>							<li>Q7SIH1</li><li>Q5R4N8</li><li>P01023</li>			2
P01889	3106		<li>M->T at 4: in dbSNP:rs1050458</li><li>V->L at 9: in dbSNP:rs1050462</li><li>L->V at 17: in dbSNP:rs1131165</li><li>S->A at 35: in dbSNP:rs1131170</li><li>V->M at 36: in dbSNP:rs1050486</li><li>A->T at 65: in dbSNP:rs1050529</li><li>N->D at 87: in dbSNP:rs1050570</li><li>AQA->TNT at 93-95: in allele B*0703</li><li>T->A at 97: in dbSNP:rs1050393</li><li>S->N at 101: in dbSNP:rs1050388</li><li>TL->II at 118-119: in allele B*0718</li><li>S->R at 121: in allele B*0718</li><li>H->Y at 137: in dbSNP:rs1050379</li><li>D->N at 138: in allele B*0705 and allele B*0706: in dbSNP rsrs709055</li><li>R->S at 155: in dbSNP:rs1050654</li><li>R->D at 180: in allele B*0704; requires 2 nucleotide substitutions</li><li>E->L at 187: in allele B*0724; requires 2 nucleotide substitutions</li><li>Y->H at 195: in dbSNP:rs1050696</li><li>V->I at 306: in allele B*0705; dbSNP:rs1131500</li><li>A->T at 329: in dbSNP:rs1051488</li>									<li>rs1051488</li><li>rs1050570</li><li>rs1050696</li><li>rs1131170</li><li>rs1050529</li><li>rs1131500</li><li>rs1050388</li><li>rs1050458</li><li>rs1131165</li><li>rs1050486</li><li>rs1050379</li><li>rs1050393</li><li>rs709055</li><li>rs1050462</li><li>rs1050654</li>	2
P01891			<li>V->M at 36: in allele A*6802</li><li>RN->EE at 86-87: in allele A*6810</li><li>Q->H at 94: in allele A*6803, allele A*6804 and allele A*6805</li><li>T->I at 97: in allele A*6804</li><li>D->H at 98: in allele A*6805</li><li>M->R at 121: in allele A*6802</li><li>S->P at 129: in allele A*6802</li><li>R->E at 138: in allele A*6806; requires 2 nucleotide substitutions</li><li>R->H at 138: in allele A*6802</li><li>D->H at 140: in allele A*6806 and allele A*6807</li><li>D->V at 140: in allele A*6817</li><li>D->Y at 140: in allele A*6802</li><li>H->L at 175: in allele A*6816</li><li>W->L at 180: in allele A*6808</li><li>W->Q at 180: in allele A*6809; requires 2 nucleotide substitutions</li>										2
P01892			<li>F->Y at 33: in allele A*0205, allele A*0206, allele A*0208, allele A*0210 and allele A*0221</li><li>D->N at 54: in allele A*0221</li><li>A->G at 65: in allele A*0231</li><li>Q->R at 67: in allele A*0202, allele A*0205 and allele A*0208</li><li>K->N at 90: in allele A*0208 and allele A*0220</li><li>H->Q at 94: in allele A*0234 and allele A*0235</li><li>T->I at 97: in allele A*0211</li><li>H->D at 98: in allele A*0211 and allele A*0235</li><li>V->L at 119: in allele A*0202, allele A*0205, allele A*0208 and allele A*0217</li><li>R->M at 121: in allele A*0204 and allele A*0217</li><li>Y->C at 123: in allele A*0207 and allele A*0218</li><li>Y->F at 123: in allele A*0210 and allele A*0217</li><li>W->G at 131: in allele A*0210</li><li>M->K at 162: in allele A*0218</li><li>A->T at 173: in allele A*0203</li><li>V->E at 176: in allele A*0203 and allele A*0213</li><li>L->Q at 180: in allele A*0212, allele A*0213 and allele A*0237</li><li>L->W at 180: in allele A*0202, allele A*0203, allele A*0205 and allele A*0208</li><li>T->E at 187: in allele A*0216; requires 2 nucleotide substitutions</li><li>E->D at 190: in allele A*0236 and allele A*0237</li><li>W->G at 191: in allele A*0236 and allele A*0237</li><li>A->E at 260: in allele A*0209</li>										2
P01903	3122		<li>V->L at 16: in dbSNP:rs16822586</li><li>V->L at 242: in allele DRA*0102; dbSNP:rs7192</li>							P40879		<li>rs16822586</li><li>rs7192</li>	2
P01906	3118		<li>V->A at 227: in dbSNP:rs9276436</li><li>G->D at 247: in dbSNP:rs2071800</li>									<li>rs2071800</li><li>rs9276436</li>	2
P01907	3117		<li>L->M at 8: in dbSNP:rs1047989</li><li>A->T at 11: in dbSNP:rs1047992</li><li>V->M at 17: in dbSNP:rs12722039</li><li>M->T at 18: in dbSNP:rs12722040</li><li>D->G at 25: in dbSNP:rs12722042</li><li>C->Y at 34: in dbSNP:rs1129740</li><li>F->S at 41: in dbSNP:rs1071630</li><li>Y->F at 48: in dbSNP:rs12722051</li><li>T->S at 49: in dbSNP:rs3188011</li><li>Q->E at 57: in dbSNP:rs10093</li><li>R->K at 64: in dbSNP:rs36219699</li><li>R->Q at 70: in dbSNP:rs3207983</li><li>Y->S at 103: in dbSNP:rs1129808</li><li>T->I at 130: in dbSNP:rs707952</li><li>Q->H at 152: in dbSNP:rs707950</li><li>A->T at 210: in dbSNP:rs9272785</li><li>A->T at 222: in dbSNP:rs35087390</li><li>M->V at 230: in dbSNP:rs9260</li><li>F->L at 238: in dbSNP:rs1048430</li><li>Q->R at 241: in dbSNP:rs9272793</li>									<li>rs1047992</li><li>rs12722051</li><li>rs1071630</li><li>rs12722040</li><li>rs36219699</li><li>rs1129808</li><li>rs1048430</li><li>rs12722042</li><li>rs9260</li><li>rs3188011</li><li>rs707950</li><li>rs1129740</li><li>rs12722039</li><li>rs3207983</li><li>rs1047989</li><li>rs10093</li><li>rs35087390</li><li>rs9272793</li><li>rs9272785</li><li>rs707952</li>	2
P01909	3117		<li>M->L at 8: in dbSNP:rs1047989</li><li>A->T at 11: in dbSNP:rs1047992</li><li>V->M at 17: in dbSNP:rs12722039</li><li>M->T at 18: in dbSNP:rs12722040</li><li>D->G at 25: in dbSNP:rs12722042</li><li>S->F at 41: in dbSNP:rs1071630</li><li>Y->F at 48: in dbSNP:rs12722051</li><li>T->S at 49: in dbSNP:rs3188011</li><li>Q->E at 57: in dbSNP:rs10093</li><li>R->K at 64: in dbSNP:rs36219699</li><li>C->Y at 70: in dbSNP:rs3207983</li><li>V->D at 73: in dbSNP:rs9272698</li><li>V->L at 73: in dbSNP:rs12722061</li><li>R->S at 78: in dbSNP:rs36219345</li><li>T->R at 86: in dbSNP:rs1048073</li><li>I->M at 88: in dbSNP:rs1048080</li><li>L->V at 91: in dbSNP:rs1048085</li><li>S->Y at 102: in dbSNP:rs1129808</li><li>I->T at 129: in dbSNP:rs707952</li><li>H->Q at 151: in dbSNP:rs707950</li><li>A->T at 209: in dbSNP:rs9272785</li><li>A->T at 221: in dbSNP:rs35087390</li><li>V->M at 229: in dbSNP:rs9260</li><li>F->L at 237: in dbSNP:rs1048430</li><li>R->Q at 240: in dbSNP:rs9272793</li>									<li>rs12722061</li><li>rs1071630</li><li>rs12722040</li><li>rs36219699</li><li>rs1129808</li><li>rs1048430</li><li>rs12722042</li><li>rs12722039</li><li>rs3207983</li><li>rs10093</li><li>rs1047989</li><li>rs35087390</li><li>rs9272785</li><li>rs36219345</li><li>rs1047992</li><li>rs12722051</li><li>rs1048080</li><li>rs1048085</li><li>rs3188011</li><li>rs9260</li><li>rs707950</li><li>rs1048073</li><li>rs9272698</li><li>rs9272793</li><li>rs707952</li>	2
P01911	3123		<li>K->R at 5: in dbSNP:rs9270305</li><li>F->Y at 55: in dbSNP:rs16822516</li><li>Y->H at 59: in allele DRB1*1503: in dbSNP rsrs11554462</li><li>I->F at 96: in allele DRB1*1504: in dbSNP rsrs17886918</li><li>T->N at 106: in dbSNP:rs9269941</li><li>V->G at 115: in allele DRB1*1502: in dbSNP rsrs17885482</li><li>G->S at 164: in dbSNP:rs1059633</li><li>A->T at 169: in dbSNP:rs2308768</li><li>V->M at 236: in dbSNP:rs2230816</li><li>T->R at 262: in dbSNP:rs9269744</li>							Q8IUH3		<li>rs1059633</li><li>rs9269941</li><li>rs17885482</li><li>rs17886918</li><li>rs16822516</li><li>rs9269744</li><li>rs9270305</li><li>rs11554462</li><li>rs2230816</li><li>rs2308768</li>	2
P01912	3126		<li>Y->F at 55: in dbSNP:rs16822516</li><li>N->T at 106: in dbSNP:rs9269941</li><li>G->S at 164: in dbSNP:rs1059633</li><li>T->A at 169: in dbSNP:rs2308768</li>									<li>rs1059633</li><li>rs9269941</li><li>rs16822516</li><li>rs2308768</li>	2
P01913			<li>H->S at 59: in allele DRB3*0210; requires 2 nucleotide substitutions</li><li>H->Y at 59: in allele DRB3*0205</li><li>Y->N at 66: in allele DRB3*0206</li><li>R->T at 80: in allele DRB3*0209 and allele DRB3*0210</li><li>D->S at 86: in allele DRB3*0208; requires 2 nucleotide substitutions</li><li>D->V at 86: in allele DRB3*0207 and allele DRB3*0209</li><li>Y->S at 89: in allele DRB3*0209</li><li>L->I at 96: in allele DRB3*0211</li><li>G->V at 115: in allele DRB3*0201</li><li>F->V at 193: in allele DRB3*0210 and allele DRB3*0211</li>										2
P01918			<li>D->G at 167: in allele DQB1*0202</li>										2
P02042	3045		<li>V->A at 2: in Niigata: in dbSNP rsrs34991152</li><li>H->L at 3: in Catania</li><li>H->R at 3: in Sphakia: in dbSNP rsrs35433207</li><li>T->I at 5: in dbSNP rsrs35406175</li><li>T->S at 5: in haplotype T11; Kenya</li><li>A->D at 11: in MUMC/Corleone</li><li>V->G at 12: in Pylos: in dbSNP rsrs34090605</li><li>N->K at 13: in NYU: in dbSNP rsrs34313675</li><li>G->R at 17: in Delta': in dbSNP rsrs34012192</li><li>V->E at 21: in Roosevelt: in dbSNP rsrs34093840</li><li>A->E at 23: in Flatbush: in dbSNP rsrs35395083</li><li>G->D at 25: in Victoria: in dbSNP rsrs34460332</li><li>G->D at 26: in Yokoshima: in dbSNP rsrs34389944</li><li>E->D at 27: in Puglia: in dbSNP rsrs34289459</li><li>A->S at 28: in Yialousa: in dbSNP rsrs35152987</li><li>P->H at 37: in Metaponto: in dbSNP rsrs34383555</li><li>E->G at 44: in Agrinio: in dbSNP rsrs36084266</li><li>E->K at 44: in Melbourne: in dbSNP rsrs35166721</li><li>D->V at 48: in Parkville: in dbSNP rsrs34977235</li><li>P->R at 52: in Adria: in dbSNP rsrs34489183</li><li>N->K at 58: in Campania: in dbSNP rsrs35666685</li><li>G->R at 70: in Indonesia: in dbSNP rsrs35913713</li><li>A->G at 71: in Ventimiglia: in dbSNP rsrs63750423</li><li>L->V at 76: in Grovetown: in dbSNP rsrs34430836</li><li>F->S at 86: in Etolia: in dbSNP rsrs35633566</li><li>Q->K at 88: in Montechiaro: in dbSNP rsrs63750674</li><li>L->V at 89: in Lucania: in dbSNP rsrs34933313</li><li>E->V at 91: in Honai: in dbSNP rsrs34420481</li><li>C->G at 94: in Sant' Antioco</li><li>V->M at 99: in Wrens; unstable: in dbSNP rsrs28933076</li><li>D->N at 100: in Canada; O: in dbSNP rsrs35329985</li><li>R->S at 105: in Capri: in dbSNP rsrs34390965</li><li>R->C at 117: in Corfu/Troodos: in dbSNP rsrs33971270</li><li>R->H at 117: in Coburg: in dbSNP rsrs34536353</li><li>N->D at 118: in LiangCheng: in dbSNP rsrs36049174</li><li>E->V at 122: in Manzanares; unstable: in dbSNP rsrs35790721</li><li>Q->E at 126: in Zagreb: in dbSNP rsrs36078803</li><li>V->A at 134: in Ninive: in dbSNP rsrs34802738</li><li>G->D at 137: in Babinga: in dbSNP rsrs35849348</li><li>A->V at 141: in Bagheria: in dbSNP rsrs63750461</li><li>L->P at 142: in Pelendri: in dbSNP rsrs33956485</li><li>A->D at 143: in Fitzroy: in dbSNP rsrs35848600</li><li>H->R at 147: in Monreale: in dbSNP rsrs34149886</li>									<li>rs35633566</li><li>rs34313675</li><li>rs34430836</li><li>rs33971270</li><li>rs35913713</li><li>rs34012192</li><li>rs34991152</li><li>rs63750423</li><li>rs34149886</li><li>rs36049174</li><li>rs35406175</li><li>rs34933313</li><li>rs35790721</li><li>rs34090605</li><li>rs36084266</li><li>rs34977235</li><li>rs63750674</li><li>rs63750461</li><li>rs34460332</li><li>rs34536353</li><li>rs34383555</li><li>rs34802738</li><li>rs35152987</li><li>rs33956485</li><li>rs34389944</li><li>rs34289459</li><li>rs35329985</li><li>rs35166721</li><li>rs34390965</li><li>rs35433207</li><li>rs35395083</li><li>rs35666685</li><li>rs34093840</li><li>rs28933076</li><li>rs36078803</li><li>rs35848600</li><li>rs34420481</li><li>rs34489183</li><li>rs35849348</li>	2
P02144	4151		<li>E->K at 55</li><li>K->N at 134</li><li>R->Q at 140</li><li>R->W at 140</li>										2
P02452	1277		<li>G->C at 197: mild phenotype; dbSNP:rs8179178</li><li>P->A at 205</li><li>G->C at 221: in OI; mild form</li><li>G->C at 224: in OI-I; mild phenotype, MIM: 166200</li><li>G->R at 263: in OI-I; mild form, MIM: 166200</li><li>G->V at 263: in OI; mild form, MIM: 166200</li><li>G->C at 272: in OI-I, MIM: 166200</li><li>G->D at 275: in OI-II, MIM: 166210</li><li>R->C at 312: in EDS1, MIM: 130000</li><li>G->R at 332: in OI-III; mild to moderate form, MIM: 259420</li><li>G->R at 350: in OI-III, MIM: 259420</li><li>G->C at 353: in OI-IV, MIM: 166220</li><li>G->C at 356: in OI-IV; mild form, MIM: 166220</li><li>G->C at 383: in OI-IV, MIM: 166220</li><li>G->C at 389: in OI; moderate form, MIM: 166220</li><li>G->R at 389: in OI-II, MIM: 166210</li><li>G->A at 398: in OI-IV, MIM: 166220</li><li>G->D at 398: in OI-II, MIM: 166210</li><li>G->C at 401: in OI-IV, MIM: 166220</li><li>G->C at 404: in OI; moderate form, MIM: 166220</li><li>G->C at 422: in OI-II, MIM: 166210</li><li>G->S at 425: in OI-II; lethal form, MIM: 166210</li><li>G->V at 434: in OI-II, MIM: 166210</li><li>G->R at 476: in OI-II: in dbSNP rsrs57377812, MIM: 166210</li><li>G->C at 527: in OI-IV, MIM: 166220</li><li>G->S at 530: in OI-II/III/IV; mild to lethal form, MIM: 166220</li><li>G->D at 533: in OI-II, MIM: 166210</li><li>G->C at 560: in OI-IV, MIM: 166220</li><li>G->R at 560: in OI-II, MIM: 166210</li><li>G->S at 560: in OI-IV, MIM: 166220</li><li>R->H at 564: in dbSNP:rs1800211, MIM: 166220</li><li>G->R at 569: in OI-II, MIM: 166210</li><li>G->C at 593: in OI-III/IV, MIM: 166210</li><li>G->S at 593: in OI-II/III; moderate to lethal form, MIM: 166210</li><li>G->S at 638: in OI-III/IV, MIM: 166210</li><li>G->S at 656: in OI-II, MIM: 166210</li><li>G->C at 701: in OI-IV, MIM: 166220</li><li>G->C at 704: in OI-III, MIM: 259420</li><li>G->D at 719: in OI-II, MIM: 166210</li><li>G->S at 719: in OI-III, MIM: 259420</li><li>G->R at 728: in OI-II, MIM: 166210</li><li>G->D at 737: in OI-II, MIM: 166210</li><li>G->S at 743: in OI-II, MIM: 166210</li><li>G->V at 743: in OI-II, MIM: 166210</li><li>G->V at 764: in OI-II, MIM: 166210</li><li>G->S at 767: in OI-III; severe, MIM: 259420</li><li>G->S at 776: in OI-II, MIM: 166210</li><li>G->S at 809: in OI-II, MIM: 166210</li><li>G->V at 815: in OI-II, MIM: 166210</li><li>G->S at 821: in OI-III, MIM: 259420</li><li>P->A at 823: in dbSNP:rs1800214, MIM: 259420</li><li>G->S at 839: in OI-II; mild to moderate form, MIM: 166210</li><li>G->R at 842: in OI-II, MIM: 166210</li><li>G->R at 845: in OI-II, MIM: 166210</li><li>G->D at 851: in OI-II, MIM: 166210</li><li>G->S at 866: in OI-III, MIM: 259420</li><li>G->C at 869: in OI-II, MIM: 166210</li><li>G->S at 884: in OI-II/III; extremely severe form, MIM: 166210</li><li>G->C at 896: in OI-II, MIM: 166210</li><li>G->C at 926: in OI-II, MIM: 166210</li><li>G->V at 980: in OI-II, MIM: 166210</li><li>G->S at 1010: in OI-IV, MIM: 166220</li><li>R->C at 1014: in Caffey disease, MIM: 114000</li><li>G->A at 1019: in dbSNP:rs1135348, MIM: 114000</li><li>G->S at 1022: in OI-III; severe form, MIM: 259420</li><li>G->V at 1022: in OI-II, MIM: 166210</li><li>G->R at 1025: in OI-II, MIM: 166210</li><li>G->S at 1040: in OI-II/III; moderate to lethal form, MIM: 166210</li><li>G->S at 1043: in OI-II, MIM: 166210</li><li>Missing  at 1046-1048: in OI-II, MIM: 166210</li><li>G->S at 1049: in OI-III, MIM: 259420</li><li>G->S at 1058: in OI-IV; mild form, MIM: 166220</li><li>G->D at 1061: in OI-II, MIM: 166210</li><li>G->S at 1061: in OI-IV, MIM: 166220</li><li>A->T at 1075: in dbSNP:rs1800215, MIM: 166220</li><li>G->S at 1076: in OI-III; severe form, MIM: 259420</li><li>G->S at 1079: in OI-I/II; mild to moderate form, MIM: 259420</li><li>G->C at 1082: in OI-II, MIM: 166210</li><li>G->A at 1088: in OI-II, MIM: 166210</li><li>G->S at 1091: in OI-II, MIM: 166210</li><li>G->S at 1100: in OI-II; mild to moderate form, MIM: 166210</li><li>G->A at 1106: in OI-II, MIM: 166210</li><li>G->C at 1124: in OI-II, MIM: 166210</li><li>R->Q at 1141: in dbSNP:rs41316713, MIM: 166210</li><li>G->S at 1142: in OI-II, MIM: 166210</li><li>G->S at 1151: in OI-III, MIM: 259420</li><li>G->V at 1151: in OI-II, MIM: 166210</li><li>G->R at 1154: in OI-II, MIM: 166210</li><li>G->C at 1166: in OI-II, MIM: 166210</li><li>G->D at 1172: in OI-II, MIM: 166210</li><li>V->I at 1177: in dbSNP:rs41316719, MIM: 166210</li><li>G->S at 1181: in OI-II, MIM: 166210</li><li>G->V at 1184: in OI-II, MIM: 166210</li><li>G->S at 1187: in OI-II/III; extremely severe form, MIM: 166210</li><li>G->V at 1187: in OI-II, MIM: 166210</li><li>G->C at 1195: in OI-II; mild form, MIM: 166210</li><li>S->T at 1251: in dbSNP:rs3205325, MIM: 166210</li><li>D->H at 1277: in OI-II; impaired pro-alpha chain association, MIM: 166210</li><li>W->C at 1312: in OI-II, MIM: 166210</li><li>Missing  at 1337-1338: in OI-II; impaired pro-alpha chain association, MIM: 166210</li><li>L->R at 1388: in OI-II; impaired pro-alpha chain association, MIM: 166210</li><li>Q->K at 1391: in dbSNP:rs2586486, MIM: 166210</li><li>K->N at 1430: in dbSNP:rs1059454, MIM: 166210</li><li>T->P at 1431: in dbSNP:rs1059454, MIM: 166210</li><li>T->S at 1434: in dbSNP:rs1800220, MIM: 166210</li><li>P->R at 1438: in dbSNP:rs17857117, MIM: 166210</li><li>P->H at 1460: in dbSNP:rs17853657, MIM: 166210</li><li>L->P at 1464: in OI-III, MIM: 259420</li>								<li>Osteogenesis imperfecta type I (OI-I) [MIM:166200]</li><li>Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]</li><li>Osteogenesis imperfecta type II (OI-II) [MIM:166210]</li><li>Caffey disease [MIM:114000]</li><li>Osteogenesis imperfecta type IV (OI-IV) [MIM:166220]</li><li>Osteogenesis imperfecta type III (OI-III) [MIM:259420]</li>	<li>rs1800215</li><li>rs41316713</li><li>rs1800220</li><li>rs1800214</li><li>rs41316719</li><li>rs57377812</li><li>rs1800211</li><li>rs1059454</li><li>rs17857117</li><li>rs8179178</li><li>rs1135348</li><li>rs2586486</li><li>rs17853657</li><li>rs3205325</li>	2
P02458	1280		<li>T->S at 9: in dbSNP:rs3803183</li><li>E->D at 142: in dbSNP:rs34392760</li><li>P->L at 158: in dbSNP:rs1050861</li><li>G->D at 267: in WS-II</li><li>R->C at 275: in spondyloepiphyseal dysplasia; with precocious osteoarthritis</li><li>Missing  at 302-308: in STL1</li><li>G->D at 303: in KS; abnormal allele expressed in the cartilage, MIM: 156550</li><li>G->R at 318: in DRRD, MIM: 609508</li><li>G->R at 354: in spondylometaphyseal dysplasia; congenital type, MIM: 609508</li><li>G->R at 375: in SEDC, MIM: 183900</li><li>G->S at 447: in SEDC, MIM: 183900</li><li>G->D at 453: in ACG2, MIM: 200610</li><li>G->V at 453: in ACG2, MIM: 200610</li><li>G->V at 492: in SEMD, MIM: 184250</li><li>G->S at 504: in SEMD, MIM: 184250</li><li>G->D at 510: in ACG2, MIM: 200610</li><li>G->S at 513: in ACG2, MIM: 200610</li><li>G->D at 516: in ACGA2, MIM: 200610</li><li>R->C at 565: in STL1, MIM: 108300</li><li>T->I at 638: in dbSNP:rs41263847, MIM: 108300</li><li>L->F at 667: in DRRD, MIM: 609508</li><li>G->S at 717: in ANFH, MIM: 608805</li><li>G->V at 717: in ACG2, MIM: 200610</li><li>R->C at 719: in osteoarthritis with mild chondrodysplasia; also in mild spondyloepiphyseal dysplasia and precocious osteoarthritis, MIM: 604864</li><li>G->A at 771: in ACG2, MIM: 200610</li><li>G->D at 771: in ACG2, MIM: 200610</li><li>G->S at 774: in SEDC and hypochondrogenesis; lethal, MIM: 183900</li><li>G->R at 780: in ACG2, MIM: 200610</li><li>G->R at 795: in ACG2, MIM: 200610</li><li>G->A at 804: in hypochondrogenesis, MIM: 200610</li><li>G->S at 855: in SEDC, MIM: 183900</li><li>G->R at 891: in ACG2 and SEDC, MIM: 183900</li><li>G->E at 894: in ACG2, MIM: 200610</li><li>G->V at 897: in SEMD, MIM: 184250</li><li>R->C at 904: in EDMMD, MIM: 132450</li><li>G->C at 909: in SEMD, MIM: 184250</li><li>G->D at 948: in ACG2, MIM: 200610</li><li>G->S at 969: in ACG2, MIM: 200610</li><li>G->S at 981: in ACG2, MIM: 200610</li><li>R->C at 989: in SEDC, MIM: 183900</li><li>R->G at 992: in SEMD, MIM: 184250</li><li>G->S at 1005: in hypochondrogenesis, MIM: 184250</li><li>Missing  at 1017-1022: in hypochondrogenesis, MIM: 184250</li><li>G->V at 1017: in ACG2, MIM: 200610</li><li>A->T at 1051: in dbSNP:rs41272041, MIM: 200610</li><li>G->E at 1053: in hypochondrogenesis; lethal, MIM: 200610</li><li>G->V at 1065: in ACG2, MIM: 200610</li><li>G->C at 1110: in ACG2, MIM: 200610</li><li>G->C at 1113: in hypochondrogenesis, MIM: 200610</li><li>G->R at 1119: in ACG2, MIM: 200610</li><li>G->S at 1143: in ACG2, MIM: 200610</li><li>Missing  at 1164-1199: in SEDC, MIM: 200610</li><li>G->S at 1170: in ANFH and in LCPD, MIM: 608805</li><li>G->R at 1173: in SEDC, MIM: 183900</li><li>G->S at 1176: in SEDC, MIM: 183900</li><li>I->IGPSGKDGANGI at 1184: in SEDC, MIM: 183900</li><li>G->R at 1188: in ACG2, MIM: 200610</li><li>G->S at 1197: in SEDC, MIM: 183900</li><li>Missing  at 1207-1212: in KS, MIM: 183900</li><li>G->D at 1305: in vitreoretinopathy; with phalangeal epiphyseal dysplasia, MIM: 183900</li><li>V->I at 1331: in dbSNP:rs12721427, MIM: 183900</li><li>T->N at 1390: in PLSD-T; phenotype previously considered as achondrogenesis-hypochondrogenesis type 2, MIM: 151210</li><li>Y->C at 1391: in PLSD-T, MIM: 151210</li><li>G->S at 1405: in dbSNP:rs2070739, MIM: 151210</li><li>T->M at 1439: in SEDC, MIM: 183900</li><li>T->P at 1448: in PLSD-T, MIM: 151210</li><li>D->H at 1469: in PLSD-T, MIM: 151210</li><li>Missing  at 1484: in PLSD-T, MIM: 151210</li><li>C->G at 1485: in PLSD-T, MIM: 151210</li>							P39932	<li>Osteoarthritis with mild chondrodysplasia [MIM:604864]</li><li>Stickler syndrome type 1 (STL1) [MIM:108300]</li><li>Strudwick type spondyloepimetaphyseal dysplasia (SEMD) [MIM:184250]</li><li>Rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508]</li><li>Kniest syndrome (KS) [MIM:156550]</li><li>Primary avascular necrosis of femoral head (ANFH) [MIM:608805]</li><li>Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]</li><li>Multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD) [MIM:132450]</li><li>Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]</li><li>Achondrogenesis hypochondrogenesis type 2 (ACG2) [MIM:200610]</li>	<li>rs34392760</li><li>rs1050861</li><li>rs41263847</li><li>rs2070739</li><li>rs41272041</li><li>rs12721427</li><li>rs3803183</li>	2
P02461	1281		<li>L->F at 169: in AAA, MIM: 100070</li><li>G->C at 183: in EDS4, MIM: 130050</li><li>G->D at 183: in EDS4, MIM: 130050</li><li>G->S at 183: in EDS4, MIM: 130050</li><li>G->V at 192: in EDS4, MIM: 130050</li><li>G->R at 201: in EDS4, MIM: 130050</li><li>G->D at 204: in EDS4, MIM: 130050</li><li>G->S at 204: in EDS4, MIM: 130050</li><li>G->D at 210: in EDS4, MIM: 130050</li><li>G->C at 219: in EDS4, MIM: 130050</li><li>G->V at 225: in EDS4, MIM: 130050</li><li>G->E at 228: in EDS4, MIM: 130050</li><li>G->R at 240: in EDS4, MIM: 130050</li><li>G->V at 243: in EDS4, MIM: 130050</li><li>G->D at 249: in EDS4, MIM: 130050</li><li>G->V at 249: in EDS4, MIM: 130050</li><li>G->D at 252: in EDS4, MIM: 130050</li><li>G->R at 252: in EDS4, MIM: 130050</li><li>G->V at 252: in EDS4, MIM: 130050</li><li>G->V at 255: in EDS4, MIM: 130050</li><li>G->R at 264: in EDS4, MIM: 130050</li><li>G->V at 267: in EDS4, MIM: 130050</li><li>G->R at 297: in EDS4, MIM: 130050</li><li>G->R at 303: in fibromuscular dysplasia and aortic aneurysm, MIM: 130050</li><li>G->V at 321: in EDS4, MIM: 130050</li><li>G->D at 327: in EDS4, MIM: 130050</li><li>G->R at 345: in EDS4, MIM: 130050</li><li>G->R at 417: in EDS4, MIM: 130050</li><li>G->S at 420: in a colorectal cancer sample; somatic mutation, MIM: 130050</li><li>G->R at 444: in EDS4, MIM: 130050</li><li>G->E at 489: in EDS4, MIM: 130050</li><li>G->R at 501: in EDS4, MIM: 130050</li><li>G->V at 519: in EDS4, MIM: 130050</li><li>G->R at 540: in EDS4, MIM: 130050</li><li>G->E at 549: in EDS4, MIM: 130050</li><li>G->E at 552: in EDS4, MIM: 130050</li><li>G->E at 567: in EDS4, MIM: 130050</li><li>G->S at 582: in EDS4, MIM: 130050</li><li>G->D at 588: in EDS4, MIM: 130050</li><li>P->T at 602: in dbSNP rsrs35795890, MIM: 130050</li><li>P->L at 635, MIM: 130050</li><li>G->R at 636: in EDS4, MIM: 130050</li><li>G->E at 657: in EDS4, MIM: 130050</li><li>G->D at 660: in EDS4, MIM: 130050</li><li>G->D at 666: in EDS4, MIM: 130050</li><li>P->T at 668: in dbSNP:rs1801183, MIM: 130050</li><li>A->T at 698: in dbSNP:rs1800255, MIM: 130050</li><li>G->R at 699: in EDS4, MIM: 130050</li><li>G->R at 726: in EDS4, MIM: 130050</li><li>G->S at 738: in EDS4, MIM: 130050</li><li>G->V at 738: in EDS4, MIM: 130050</li><li>G->V at 744: in EDS4, MIM: 130050</li><li>G->E at 756: in EDS4, MIM: 130050</li><li>G->C at 762: in EDS4, MIM: 130050</li><li>G->R at 786: in AAA, MIM: 100070</li><li>G->S at 804: in EDS3, MIM: 130020</li><li>G->R at 828: in EDS4, MIM: 130050</li><li>G->W at 828: in EDS4, MIM: 130050</li><li>Missing  at 830-838: in EDS4, MIM: 130050</li><li>G->C at 852: in EDS4, MIM: 130050</li><li>G->V at 879: in EDS4, MIM: 130050</li><li>G->D at 882: in EDS4, MIM: 130050</li><li>G->D at 900: in EDS4, MIM: 130050</li><li>G->E at 903: in EDS4, MIM: 130050</li><li>G->D at 909: in EDS4, MIM: 130050</li><li>G->V at 909: in EDS4, MIM: 130050</li><li>G->E at 918: in EDS4, MIM: 130050</li><li>G->C at 924: in EDS4, MIM: 130050</li><li>G->R at 936: in EDS4, MIM: 130050</li><li>G->S at 936: in EDS4, MIM: 130050</li><li>G->D at 939: in EDS4, MIM: 130050</li><li>G->E at 942: in EDS4, MIM: 130050</li><li>G->S at 957: in EDS4; severe variant, MIM: 130050</li><li>G->V at 960: in EDS4; severe variant, MIM: 130050</li><li>G->V at 966: in EDS4, MIM: 130050</li><li>G->A at 972: in EDS4, MIM: 130050</li><li>G->T at 984: in EDS4; requires 2 nucleotide substitutions, MIM: 130050</li><li>G->E at 996: in EDS4, MIM: 130050</li><li>G->R at 999: in EDS4, MIM: 130050</li><li>G->E at 1011: in EDS4, MIM: 130050</li><li>G->E at 1014: in EDS4, MIM: 130050</li><li>G->V at 1032: in EDS4, MIM: 130050</li><li>G->C at 1035: in EDS4, MIM: 130050</li><li>G->D at 1044: in EDS4, MIM: 130050</li><li>G->D at 1050: in EDS4; mild variant, MIM: 130050</li><li>G->V at 1050: in EDS4, MIM: 130050</li><li>G->V at 1071: in EDS4, MIM: 130050</li><li>G->V at 1077: in EDS4, MIM: 130050</li><li>G->D at 1089: in EDS4, MIM: 130050</li><li>G->D at 1098: in EDS4, MIM: 130050</li><li>G->V at 1098: in EDS4, MIM: 130050</li><li>G->E at 1101: in EDS4, MIM: 130050</li><li>G->A at 1104: in EDS4, MIM: 130050</li><li>G->V at 1161: in EDS4, MIM: 130050</li><li>G->E at 1164: in EDS4, MIM: 130050</li><li>G->R at 1164: in EDS4, MIM: 130050</li><li>G->S at 1164: in spondyloepiphyseal dysplasia, MIM: 130050</li><li>G->V at 1167: in EDS4, MIM: 130050</li><li>G->D at 1170: in EDS4, MIM: 130050</li><li>G->V at 1170: in EDS4, MIM: 130050</li><li>G->E at 1173: in EDS4, MIM: 130050</li><li>G->R at 1173: in EDS4; Gottron type acrogeria, MIM: 130050</li><li>G->V at 1176: in EDS4; severe, MIM: 130050</li><li>G->R at 1179: in EDS4, MIM: 130050</li><li>G->E at 1182: in EDS4, MIM: 130050</li><li>G->D at 1185: in EDS4; severe variant, MIM: 130050</li><li>G->V at 1185: in EDS4, MIM: 130050</li><li>G->E at 1188: in EDS4; severe variant, MIM: 130050</li><li>G->R at 1188: in EDS4, MIM: 130050</li><li>I->V at 1205: in dbSNP:rs2271683, MIM: 130050</li><li>H->Q at 1353: in dbSNP:rs1516446, MIM: 130050</li><li>R->C at 1434: in a colorectal cancer sample; somatic mutation, MIM: 130050</li>								<li>Ehlers-Danlos syndrome type 3 (EDS3) [MIM:130020]</li><li>Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]</li><li>Aortic aneurysm abdominal (AAA) [MIM:100070]</li>	<li>rs2271683</li><li>rs35795890</li><li>rs1516446</li><li>rs1800255</li><li>rs1801183</li>	2
P02462	1282		<li>V->L at 7: in dbSNP:rs9515185</li><li>P->L at 304: in dbSNP:rs34843786</li><li>G->V at 498: in HANAC, MIM: 611773</li><li>G->R at 519: in HANAC, MIM: 611773</li><li>G->E at 528: in HANAC, MIM: 611773</li><li>T->P at 555: in dbSNP:rs536174, MIM: 611773</li><li>G->E at 562: in brain small vessel disease with hemorrhage, MIM: 607595</li><li>G->S at 749: in porencephaly type 1, MIM: 175780</li><li>G->D at 1130: in porencephaly type 1, MIM: 175780</li><li>G->R at 1236: in porencephaly type 1, MIM: 175780</li><li>Q->H at 1334: in dbSNP:rs3742207, MIM: 175780</li><li>G->R at 1423: in porencephaly type 1, MIM: 175780</li>								<li>Brain small vessel disease with hemorrhage [MIM:607595]</li><li>Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) [MIM:611773]</li><li>Porencephaly type 1 [MIM:175780]</li>	<li>rs34843786</li><li>rs9515185</li><li>rs3742207</li><li>rs536174</li>	2
P02489	1409		<li>R->L at 21: in congenital cataract; associated with macular hypoplasia and a generally hypopigmented fundus</li><li>R->C at 49: in nuclear cataract; autosomal dominant</li><li>D->H at 105: in a breast cancer sample; somatic mutation</li><li>R->C at 116: in zonular central nuclear cataract; reduced chaperone-like activity and increased membrane-binding capacity, MIM: 123580</li><li>R->H at 116: in congenital cataract; autosomal dominant; reverse phase-high-performance liquid chromatography suggests an increase hydrophobicity of the mutant protein; loss of chaperone activity of the mutant is seen in DL-dithiothreitol-induced insulin aggregation assay; fast protein liquid chromatography purification shows that the mutant protein has increased binding affinity to lysozyme, MIM: 123580</li>			binding	GO:0005488	membrane	GO:0016020	<li>O64362</li><li>P0C236</li><li>P39046</li><li>P07453</li><li>P21270</li><li>P42633</li><li>P62693</li><li>Q37896</li><li>P51771</li><li>P68243</li><li>P68992</li><li>P62692</li><li>P07540</li><li>P81241</li><li>P81423</li><li>P23472</li><li>P15057</li><li>P23473</li><li>O80288</li><li>P03706</li><li>P33486</li><li>P19386</li><li>P19385</li><li>P68245</li><li>Q9T1X2</li><li>O80292</li><li>P69046</li><li>Q7SID7</li><li>P37715</li><li>P01316</li><li>P13656</li><li>P01314</li><li>P01319</li><li>P29335</li><li>P12703</li><li>P18109</li><li>P12704</li><li>Q27650</li><li>Q9CIT4</li><li>P12708</li><li>P67974</li><li>P67973</li><li>P83673</li><li>P67971</li><li>P01330</li><li>P69048</li><li>P69047</li><li>P82175</li><li>P82174</li><li>P01324</li><li>P09963</li><li>P01320</li><li>Q37875</li><li>P10439</li><li>P68920</li><li>P11187</li><li>P01328</li><li>P68921</li><li>Q9TQY7</li><li>P01340</li><li>P67969</li><li>P68990</li><li>P67968</li><li>P68991</li><li>P27359</li><li>P01336</li><li>P81881</li><li>P68988</li><li>Q9ZXB7</li><li>Q48603</li><li>P13190</li><li>P01334</li><li>P68987</li><li>P01331</li><li>P09477</li><li>P09476</li><li>P68989</li><li>P00720</li>	Zonular central nuclear cataract [MIM:123580, 604219]		2
P02511	1410		<li>S->Y at 41: in dbSNP:rs2234703</li><li>P->L at 51: in dbSNP:rs2234704</li><li>R->G at 120: in alpha-B crystallinopathy; decreased interactions with wild-type CRYAA and CRYAB but increased interactions with wild-type CRYBB2 and CRYGC: in dbSNP rsrs28929489, MIM: 608810</li>							<li>O12984</li><li>O12988</li><li>O12987</li><li>P68288</li><li>P68289</li><li>Q60HG8</li><li>P02498</li><li>P02497</li><li>P02499</li><li>P62698</li><li>O12991</li><li>O12995</li><li>P02470</li><li>P68283</li><li>P68282</li><li>O93591</li><li>P68281</li><li>P68280</li><li>Q5ENZ0</li><li>P02474</li><li>P68287</li><li>P68286</li><li>P02472</li><li>P68285</li><li>P43320</li><li>P68284</li><li>O73919</li><li>P02509</li><li>P02508</li><li>P02507</li><li>P02506</li><li>P02505</li><li>P02504</li><li>P02503</li><li>P02502</li><li>P07315</li><li>P02501</li><li>P02500</li><li>Q5R9K0</li><li>P02482</li><li>P02483</li><li>P02484</li><li>P02485</li><li>Q9EPF3</li><li>P68406</li><li>P02480</li><li>P68405</li><li>P15990</li><li>P82531</li><li>Q5ENY9</li><li>P82530</li><li>Q91518</li><li>Q91312</li><li>P82533</li><li>Q91517</li><li>Q91311</li><li>P02510</li><li>P02511</li><li>P02512</li><li>P02479</li><li>P41316</li><li>P02476</li><li>P02475</li><li>P02478</li><li>P02477</li><li>P02493</li><li>P02494</li><li>P02492</li><li>P06904</li><li>Q7M2W6</li><li>Q05714</li><li>P02522</li><li>Q05713</li><li>Q05557</li><li>P05811</li><li>P02489</li><li>Q90497</li><li>P02488</li><li>P02487</li><li>P02486</li>	Alpha-B crystallinopathy [MIM:608810]	<li>rs28929489</li><li>rs2234704</li><li>rs2234703</li>	2
P02533	3861		<li>C->Y at 63: in dbSNP:rs6503640</li><li>A->T at 94: in dbSNP:rs3826550</li><li>K->N at 116: in WC-EBS: in dbSNP rsrs59271739, MIM: 131800</li><li>M->I at 119: in WC-EBS at heterozygosity; more severe phenotype is associated with homozygosity: in dbSNP rsrs57358989, MIM: 131800</li><li>M->T at 119: in DM-EBS: in dbSNP rsrs28928893, MIM: 131760</li><li>M->V at 119: in K-EBS and WC-EBS: in dbSNP rsrs61263401, MIM: 131800</li><li>Q->R at 120: in DM-EBS: in dbSNP rsrs60993843, MIM: 131760</li><li>L->F at 122: in DM-EBS and K-EBS: in dbSNP rsrs59110575, MIM: 131900</li><li>N->K at 123: in DM-EBS, MIM: 131760</li><li>N->S at 123: in DM-EBS: in dbSNP rsrs60171927, MIM: 131760</li><li>R->C at 125: in DM-EBS: in dbSNP rsrs60399023, MIM: 131760</li><li>R->G at 125: in DM-EBS, MIM: 131760</li><li>R->H at 125: in DM-EBS: in dbSNP rsrs58330629, MIM: 131760</li><li>R->S at 125: in DM-EBS, MIM: 131760</li><li>Missing  at 128: in DM-EBS, MIM: 131760</li><li>Y->D at 129: in DM-EBS, MIM: 131760</li><li>L->P at 130: in DM-EBS: in dbSNP rsrs57522245, MIM: 131760</li><li>V->A at 133: in dbSNP:rs642601, MIM: 131760</li><li>V->L at 133: in WC-EBS and K-EBS: in dbSNP rsrs61027685, MIM: 131800</li><li>R->P at 134: in K-EBS: in dbSNP rsrs61540016, MIM: 131900</li><li>L->P at 143: in K-EBS: in dbSNP rsrs61326242, MIM: 131900</li><li>E->A at 144: in AREBS, MIM: 601001</li><li>R->C at 148: in WC-EBS: in dbSNP rsrs58378809, MIM: 131800</li><li>R->P at 211: in WC-EBS: in dbSNP rsrs60589227, MIM: 131800</li><li>E->K at 215: in dbSNP:rs11551755, MIM: 131800</li><li>A->D at 247: in K-EBS, MIM: 131900</li><li>V->M at 270: in WC-EBS: in dbSNP rsrs58560979, MIM: 131800</li><li>M->R at 272: in K-EBS: in dbSNP rsrs61371557, MIM: 131900</li><li>M->T at 272: in K-EBS, MIM: 131900</li><li>D->G at 273: in WC-EBS: in dbSNP rsrs59375065, MIM: 131800</li><li>A->D at 274: in WC-EBS: in dbSNP rsrs58785777, MIM: 131800</li><li>Missing  at 375: in WC-EBS, MIM: 131800</li><li>I->N at 377: in WC-EBS: in dbSNP rsrs61536893, MIM: 131800</li><li>L->P at 384: in K-EBS: in dbSNP rsrs59629244, MIM: 131900</li><li>R->C at 388: in WC-EBS: in dbSNP rsrs59966597, MIM: 131800</li><li>R->H at 388: in WC-EBS: in dbSNP rsrs58645163, MIM: 131800</li><li>L->M at 408: in WC-EBS: in dbSNP rsrs57200223, MIM: 131800</li><li>Missing  at 411: in WC-EBS, MIM: 131800</li><li>A->T at 413: in K-EBS: in dbSNP rsrs59780231, MIM: 131900</li><li>Y->C at 415: in WC-EBS: in dbSNP rsrs59442925, MIM: 131800</li><li>Y->H at 415: in K-EBS: in dbSNP rsrs58380626, MIM: 131900</li><li>R->P at 416: in DM-EBS: in dbSNP rsrs60622724, MIM: 131760</li><li>R->P at 417: in DM-EBS: in dbSNP rsrs61085704, MIM: 131760</li><li>L->Q at 419: in DM-EBS: in dbSNP rsrs57364972, MIM: 131760</li><li>E->K at 422: in WC-EBS: in dbSNP rsrs58762773, MIM: 131800</li>								<li>Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]</li><li>Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]</li><li>Epidermolysis bullosa simplex autosomal recessive (AREBS) [MIM:601001]</li><li>Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]</li>	<li>rs59271739</li><li>rs57200223</li><li>rs60589227</li><li>rs61027685</li><li>rs58560979</li><li>rs58380626</li><li>rs642601</li><li>rs60622724</li><li>rs57358989</li><li>rs11551755</li><li>rs61263401</li><li>rs3826550</li><li>rs61536893</li><li>rs59780231</li><li>rs57364972</li><li>rs61371557</li><li>rs59375065</li><li>rs60993843</li><li>rs61326242</li><li>rs59966597</li><li>rs58330629</li><li>rs28928893</li><li>rs58645163</li><li>rs59629244</li><li>rs59442925</li><li>rs58762773</li><li>rs57522245</li><li>rs61540016</li><li>rs60171927</li><li>rs58378809</li><li>rs60399023</li><li>rs58785777</li><li>rs61085704</li><li>rs6503640</li><li>rs59110575</li>	2
P02538	3853		<li>N->S at 21: in dbSNP:rs17845411</li><li>G->D at 111: in dbSNP:rs681063</li><li>Missing  at 171: in PC1</li><li>F->V at 174: in PC1; dbSNP:rs28933087, MIM: 167200</li><li>L->R at 469: in PC1: in dbSNP rsrs57052654, MIM: 167200</li><li>E->K at 472: in PC1: in dbSNP rsrs60554162, MIM: 167200</li>							<li>P22413</li><li>P28840</li><li>P63239</li><li>Q9GLR1</li><li>P63240</li><li>P29120</li>	Pachyonychia congenita type 1 (PC1) [MIM:167200]	<li>rs681063</li><li>rs60554162</li><li>rs28933087</li><li>rs57052654</li><li>rs17845411</li>	2
P02549	6708		<li>I->S at 24: in EL2; Lograno, MIM: 182860</li><li>R->C at 28: in EL2: in dbSNP rsrs28934005, MIM: 182860</li><li>R->H at 28: in EL2; Corbeil: in dbSNP rsrs28934004, MIM: 182860</li><li>R->L at 28: in EL2: in dbSNP rsrs28934004, MIM: 182860</li><li>R->S at 28: in EL2: in dbSNP rsrs28934005, MIM: 182860</li><li>V->A at 31: in EL2; Marseille, MIM: 182860</li><li>R->W at 34: in EL2; Genova, MIM: 182860</li><li>R->W at 41: in EL2; Tunis, MIM: 182860</li><li>R->S at 45: in EL2; Clichy, MIM: 182860</li><li>R->T at 45: in EL2; Anastasia, MIM: 182860</li><li>G->V at 46: in EL2; Culoz, MIM: 182860</li><li>K->R at 48: in HPP, MIM: 266140</li><li>L->F at 49: in EL2; Lyon, MIM: 182860</li><li>S->F at 109: in dbSNP:rs3737521, MIM: 182860</li><li>G->D at 151: in EL2; Ponte de Sor, MIM: 182860</li><li>D->N at 152: in dbSNP:rs16840544, MIM: 182860</li><li>L->LL at 154: in EL2, MIM: 182860</li><li>L->P at 207: in EL2 and HPP; Saint-Louis, MIM: 266140</li><li>L->P at 260: in EL2; Nigerian, MIM: 182860</li><li>S->P at 261: in EL2, MIM: 182860</li><li>H->P at 469: in EL2; Barcelona, MIM: 182860</li><li>Missing  at 469: in EL2; Alexandria, MIM: 182860</li><li>Q->P at 471: in EL2, MIM: 182860</li><li>R->H at 701: in dbSNP:rs12090314, MIM: 182860</li><li>A->T at 766: in dbSNP:rs11265047, MIM: 182860</li><li>D->E at 791: in EL2; Jendouba; dbSNP:rs7418956, MIM: 182860</li><li>I->V at 809: in dbSNP:rs7547313, MIM: 182860</li><li>T->R at 853: in dbSNP:rs35121052, MIM: 182860</li><li>A->V at 957: in dbSNP:rs34706737, MIM: 182860</li><li>A->D at 970: in dbSNP:rs35948326, MIM: 182860</li><li>A->S at 1163: in dbSNP:rs2482965, MIM: 182860</li><li>R->I at 1330: in dbSNP:rs34214405, MIM: 182860</li><li>R->C at 1568: in dbSNP:rs863931, MIM: 182860</li><li>L->V at 1857: in dbSNP rsrs3737515, MIM: 182860</li><li>A->G at 2024: in Cagliari, MIM: 182860</li>							<li>Q9SYZ0</li><li>P29082</li>	<li>Elliptocytosis type 2 (EL2) [MIM:182860]</li><li>Hereditary pyropoikilocytosis (HPP) [MIM:266140]</li>	<li>rs863931</li><li>rs12090314</li><li>rs28934005</li><li>rs28934004</li><li>rs3737515</li><li>rs2482965</li><li>rs3737521</li><li>rs16840544</li><li>rs34214405</li><li>rs7418956</li><li>rs35121052</li><li>rs34706737</li><li>rs11265047</li><li>rs7547313</li><li>rs35948326</li>	2
P02647	335		<li>P->H at 27: in Munster-3C</li><li>P->R at 27</li><li>P->R at 28: in Munster-3B</li><li>R->L at 34: in Baltimore: in dbSNP rsrs28929476</li><li>G->R at 50: in AMYLIOWA: in dbSNP rsrs28931574, MIM: 107680</li><li>A->T at 61: in dbSNP rsrs12718465, MIM: 107680</li><li>L->R at 84: in AMYL8, MIM: 105200</li><li>T->I at 92, MIM: 105200</li><li>D->E at 113, MIM: 105200</li><li>A->D at 119: in Hita, MIM: 105200</li><li>D->H at 126: in dbSNP:rs5077, MIM: 105200</li><li>D->N at 127: in Munster-3A, MIM: 105200</li><li>K->M at 131: in dbSNP:rs4882, MIM: 105200</li><li>Missing  at 131: in Marburg/Munster-2, MIM: 105200</li><li>W->R at 132: in Tsushima, MIM: 105200</li><li>E->K at 134: in Fukuoka, MIM: 105200</li><li>E->K at 160: in Norway, MIM: 105200</li><li>E->G at 163, MIM: 105200</li><li>P->R at 167: in Giessen, MIM: 105200</li><li>L->R at 168: in Zaragoza, MIM: 105200</li><li>E->V at 171, MIM: 105200</li><li>V->E at 180: in Oita; 60% of normal apoA-I and normal HDL cholesterol levels. Rapidly cleared from plasma, MIM: 105200</li><li>R->P at 184: in dbSNP:rs5078, MIM: 105200</li><li>P->R at 189, MIM: 105200</li><li>R->C at 197: in Milano; associated with decreased HDL levels and moderate increases in triglycerides; no evidence of association with premature vascular disease: in dbSNP rsrs28931573, MIM: 105200</li><li>E->K at 222: in Munster-4, MIM: 105200</li>							<li>P09809</li><li>P27007</li><li>P68292</li><li>P18647</li><li>P18648</li><li>P68293</li><li>O42363</li><li>Q9Z2L4</li><li>P02648</li><li>P15497</li><li>O42175</li><li>P32918</li><li>O18759</li><li>P08250</li><li>Q91488</li><li>P02647</li><li>Q00623</li><li>P04639</li><li>O42296</li>	<li>Amyloid polyneuropathy-nephropathy Iowa type (AMYLIOWA) [MIM:107680]</li><li>Amyloidosis type 8 (AMYL8) [MIM:105200]</li>	<li>rs28931574</li><li>rs5078</li><li>rs28931573</li><li>rs5077</li><li>rs28929476</li><li>rs4882</li><li>rs12718465</li>	2
P02649	348		<li>E->K at 21: in isoform E5; associated with hyperlipoproteinemia and atherosclerosis</li><li>E->K at 31: in hyperlipoproteinemia type III; isoforms E4 Philadelphia and isoform E5-type; only isoform E4 Philadelphia is disease-linked, MIM: 107741</li><li>R->C at 43: in LPG; isoform E2 Kyoto, MIM: 611771</li><li>L->P at 46: in isoform E4 Freiburg; dbSNP:rs769452, MIM: 611771</li><li>T->A at 60: in isoform E3 Freiburg; dbSNP:rs28931576, MIM: 611771</li><li>Q->H at 64, MIM: 611771</li><li>Q->K at 99: in isoform E5 Frankfurt, MIM: 611771</li><li>P->R at 102: in isoform E5-type; no hyperlipidemia; dbSNP:rs28931578: in dbSNP rsrs11083750, MIM: 611771</li><li>A->T at 117: in isoform E3*; dbSNP:rs28931577, MIM: 611771</li><li>A->V at 124: in isoform E3 Basel, MIM: 611771</li><li>C->R at 130: in hyperlipoproteinemia type III; isoform E3**, isoform E4, isoform E4/3 and some isoforms E5-type; only isoform E3** is disease-linked; dbSNP:rs429358, MIM: 107741</li><li>G->D at 145: in isoform E1 Weisgraber, MIM: 107741</li><li>G->GEVQAMLG at 145: in hyperlipoproteinemia type III; isoform E3 Leiden, MIM: 107741</li><li>R->Q at 152: in isoform E2-type; no hyperlipidemia: in dbSNP rsrs28931578, MIM: 107741</li><li>R->C at 154: in hyperlipoproteinemia type III; isoform E2-type, MIM: 107741</li><li>R->S at 154: in hyperlipoproteinemia type III; isoform E2 Christchurch, MIM: 107741</li><li>R->C at 160: in hyperlipoproteinemia type III; isoform E3**, MIM: 107741</li><li>R->C at 163: in hyperlipoproteinemia type III; isoform E4 Philadelphia and isoform E2-type; only isoform E4 Philadelphia is disease-linked; dbSNP:rs769455, MIM: 107741</li><li>R->H at 163: in E3 Kochi, MIM: 107741</li><li>R->P at 163: in LPG; isoform E2 Sendai, MIM: 611771</li><li>K->E at 164: in hyperlipoproteinemia type III; isoform E1 Harrisburg, MIM: 107741</li><li>K->Q at 164: in hyperlipoproteinemia type III; isoform E2**, MIM: 107741</li><li>Missing  at 167: in sea-blue histiocyte disease, MIM: 107741</li><li>A->P at 170: in isoform E3*, MIM: 107741</li><li>R->C at 176: in hyperlipoproteinemia type III; isoforms E1 Weisgraber, isoform E2 and isoform E3**; dbSNP:rs7412, MIM: 107741</li><li>R->Q at 242: in isoform E2 Fukuoka, MIM: 107741</li><li>R->C at 246: in isoform E2 Dunedin, MIM: 107741</li><li>V->E at 254: in isoform E2 W.G., MIM: 107741</li><li>EE->KK at 262-263: in hyperlipoproteinemia type III; isoform E7 Suita, MIM: 107741</li><li>R->G at 269: in isoform E3 H.B. and isoform E4/3, MIM: 107741</li><li>L->E at 270: in isoform E1 H.E.; requires 2 nucleotide substitutions, MIM: 107741</li><li>R->H at 292: in isoform E4 P.D., MIM: 107741</li><li>S->R at 314: in isoform E4 H.G.; dbSNP:rs28931579, MIM: 107741</li>			<li>E1</li><li>E2</li>	<li>GO:0004839</li><li>GO:0004840</li>				<li>Lipoprotein glomerulopathy (LPG) [MIM:611771]</li><li>Hyperlipoproteinemia type III [MIM:107741]</li>	<li>rs11083750</li><li>rs28931578</li><li>rs28931579</li><li>rs28931576</li><li>rs28931577</li><li>rs429358</li><li>rs769455</li><li>rs769452</li><li>rs7412</li>	2
P02654	341		<li>I->M at 16: in dbSNP:rs5112</li><li>T->S at 71: polymorphism found only in persons of American Indian or Mexican ancestry; more susceptible to N-terminal truncation and shows greater distribution to the VLDL than the protein with T-71</li>									rs5112	2
P02655	344		<li>K->T at 41</li><li>W->R at 48: in hyperlipoproteinemia type IB; variant Wakayama, MIM: 207750</li><li>E->K at 60: in San Francisco; found in hyperlipidemic patients; dbSNP:rs5122, MIM: 207750</li><li>K->Q at 77: in Africa; dbSNP:rs5126, MIM: 207750</li>								Hyperlipoproteinemia type IB [MIM:207750]	<li>rs5126</li><li>rs5122</li>	2
P02656	345		<li>K->E at 78: in hyperalphalipoproteinemia, MIM: 143470</li><li>T->A at 94: in C-III-0; unglycosylated, MIM: 143470</li>								Hyperalphalipoproteinemia [MIM:143470]		2
P02671	2243		<li>I->V at 6: in dbSNP:rs2070025</li><li>D->N at 26: in Lille-1</li><li>G->V at 31: in Rouen-1</li><li>R->C at 35</li><li>R->H at 35</li><li>P->L at 37: in Kyoto-2</li><li>R->G at 38: in Aarhus-1</li><li>R->N at 38: in Munich-1; requires 2 nucleotide substitutions</li><li>R->S at 38: in Detroit-1</li><li>V->D at 39: in Canterbury</li><li>S->T at 66</li><li>R->S at 160: in Lima</li><li>T->A at 331: in dbSNP:rs6050</li><li>K->E at 446: in dbSNP:rs6052</li><li>S->N at 453: in Caracas-2</li><li>T->A at 456: in dbSNP:rs2070031</li><li>E->V at 545: in AMYL8, MIM: 105200</li><li>R->C at 573: in Dusart/Paris-5, MIM: 105200</li><li>R->L at 573: in AMYL8, MIM: 105200</li>								Amyloidois type 8 (AMYL8) [MIM:105200]	<li>rs6050</li><li>rs2070031</li><li>rs2070025</li><li>rs6052</li>	2
P02675	2244		<li>K->E at 2: in dbSNP:rs6053</li><li>Missing  at 39-102: in New York-1</li><li>R->C at 44: in Christchurch-2, Seattle-1 and Ijmuiden</li><li>G->R at 45: in Ise</li><li>R->C at 74: in Nijmegen</li><li>A->T at 98: in Naples and Milano-2; associated with defective thrombin binding and thrombophilia</li><li>P->S at 100: in dbSNP:rs2227434</li><li>N->H at 170: in dbSNP:rs2227409</li><li>R->C at 196: in congenital afibrinogenemia; variant Longmont, MIM: 202400</li><li>P->L at 265: in dbSNP:rs6054, MIM: 202400</li><li>A->T at 365: in Pontoise-2, MIM: 202400</li><li>L->R at 383: in congenital afibrinogenemia; abolishes fibrinogen secretion, MIM: 202400</li><li>G->D at 430: in congenital afibrinogenemia; abolishes fibrinogen secretion, MIM: 202400</li><li>R->K at 478: in Baltimore-2; dbSNP:rs4220, MIM: 202400</li>	secretion	GO:0046903	binding	GO:0005488			<li>P84122</li><li>P22775</li><li>P81070</li>	Congenital afibrinogenemia [MIM:202400]	<li>rs4220</li><li>rs6054</li><li>rs6053</li><li>rs2227409</li><li>rs2227434</li>	2
P02679	2266		<li>E->G at 77: in dbSNP:rs11551835</li><li>Y->H at 140: in dbSNP:rs2066870</li><li>G->R at 191: in Milano-12; dbSNP:rs6063</li><li>R->C at 301: in Tochigi/Osaka-2/Milano-5/Villajoyosa</li><li>R->H at 301: in Bergamo-2/Essen/Haifa/Osaka-3/Perugia/Saga/Barcelona-3/Barcelona-4</li><li>G->V at 318: in Baltimore-1; impaired polymerization</li><li>N->I at 334: in Baltimore-3; impaired polymerization</li><li>N->K at 334: in Kyoto-1; causes accelerated cleavage by plasmin</li><li>G->D at 335: in Hillsborough; prolonged thrombin clotting time</li><li>M->T at 336: in Asahi; impaired polymerization</li><li>Missing  at 345-346: in Vlissingen; defective calcium binding and impaired polymerization</li><li>Q->R at 355: in Nagoya-1; impaired polymerization</li><li>D->V at 356: in Milano-1; impaired polymerization</li><li>D->Y at 356: in Kyoto-3; impaired polymerization</li><li>N->K at 363: in Bern-1; impaired polymerization</li><li>G->VMCGEALPMLKD at 377: in Paris-1; impaired polymerization</li><li>S->C at 384: in Milano-7; impaired polymerization</li><li>R->G at 401: in Osaka-5</li><li>M->V at 410: in dbSNP:rs6061</li>	clotting	GO:0050817	binding	GO:0005488			P84122		<li>rs6061</li><li>rs6063</li><li>rs2066870</li><li>rs11551835</li>	2
P02708	1134		<li>V->L at 177: in FCCMS; mutant channel shows an approximately 30-fold decrease of ACh binding affinity for the second of 2 closed-state binding sites but only a 2-fold decrease in gating efficiency, MIM: 608930</li><li>G->S at 198: in SCCMS, MIM: 601462</li><li>V->M at 201: in SCCMS, MIM: 601462</li><li>R->L at 254: in lethal type multiple pterygium syndrome, MIM: 253290</li><li>N->K at 262: in SCCMS, MIM: 601462</li><li>F->V at 278: in FCCMS; markedly reduced protein expression, MIM: 608930</li><li>V->F at 294: in SCCMS; causes increased channel opening in absence of ACh; prolonged opening in presence of ACh; increased affinity for ACh and enhanced desensitization, MIM: 601462</li><li>T->I at 299: in SCCMS, MIM: 601462</li><li>F->L at 301: in FCCMS; fewer and shorter ion channel activations with decreased channel opening rate and increased channel closing rate, MIM: 608930</li><li>S->I at 314: in SCCMS, MIM: 601462</li><li>V->I at 330: in FCCMS; abnormally slow channel opening and closing resulting in abnormally brief current, MIM: 608930</li><li>D->V at 383: in dbSNP:rs6739001, MIM: 608930</li><li>C->W at 463: in SCCMS; increases the rate of channel opening and slows the rate of channel closing but has no effect on agonist binding, MIM: 601462</li>			binding	GO:0005488				<li>Lethal type multiple pterygium syndrome [MIM:253290]</li><li>Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]</li><li>Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]</li>	rs6739001	2
P02724	2993		<li>S->L at 20: determines blood group M: in dbSNP rsrs7682260</li><li>G->E at 24: determines blood group N: in dbSNP rsrs7687256</li>									<li>rs7682260</li><li>rs7687256</li>	2
P02730	6521		<li>D->A at 38: in dbSNP:rs5035</li><li>E->K at 40: in hemolytic anemia; Montefiore; dbSNP:rs45562031</li><li>D->E at 45: in dbSNP:rs34700496</li><li>K->E at 56: in Memphis; dbSNP:rs5036</li><li>E->K at 68: in dbSNP:rs13306787</li><li>L->M at 73</li><li>E->K at 90: in HS; Cape Town; dbSNP:rs28929480, MIM: 109270</li><li>R->S at 112: in dbSNP:rs5037, MIM: 109270</li><li>G->R at 130: in HS; Fukoka, MIM: 109270</li><li>P->S at 147: in HS; Mondego, MIM: 109270</li><li>A->D at 285: in HS; Boston, MIM: 109270</li><li>P->R at 327: in HS; Tuscaloosa; dbSNP:rs28931583, MIM: 109270</li><li>Missing  at 400-408: in EL4, MIM: 109270</li><li>R->W at 432: in ELO antigen, MIM: 109270</li><li>I->F at 442: in dbSNP:rs5018, MIM: 109270</li><li>G->E at 455: in HS; Benesov, MIM: 109270</li><li>E->K at 480: in FR, MIM: 109270</li><li>V->M at 488: in HS; Coimbra; also in dRTA autosomal recessive form; dbSNP:rs28931584, MIM: 109270</li><li>R->C at 490: in HS; Bicetre I, MIM: 109270</li><li>E->K at 508: in dbSNP:rs45568837, MIM: 109270</li><li>R->C at 518: in HS; Dresden, MIM: 109270</li><li>P->L at 548: in RB, MIM: 109270</li><li>K->N at 551: in TR, MIM: 109270</li><li>T->I at 552: in WARR antigen, MIM: 109270</li><li>Y->H at 555: in VG, MIM: 109270</li><li>V->M at 557: in WD, MIM: 109270</li><li>P->S at 561: in BOW antigen, MIM: 109270</li><li>G->A at 565: in WU antigen, MIM: 109270</li><li>P->A at 566: in KREP antigen, MIM: 109270</li><li>P->S at 566: in PN, MIM: 109270</li><li>N->K at 569: in BP, MIM: 109270</li><li>M->L at 586: in dbSNP:rs5019, MIM: 109270</li><li>R->C at 589: in dRTA; autosomal dominant form; reduced red cell sulfate transport and altered glycosylation of the red cell band 3 N-glycan chain, MIM: 611590</li><li>R->H at 589: in dRTA; autosomal dominant form, MIM: 611590</li><li>R->S at 589: in dRTA; autosomal dominant form, MIM: 611590</li><li>R->P at 602: in dRTA; autosomal recessive form; with hemolytic anemia, MIM: 611590</li><li>S->F at 613: in dRTA; autosomal dominant form; markedly increased red cell sulfate transport but almost normal red cell iodide transport, MIM: 611590</li><li>R->Q at 646: in SW, MIM: 611590</li><li>R->W at 646: in SW, MIM: 611590</li><li>R->C at 656: in HG, MIM: 611590</li><li>R->H at 656: in MO, MIM: 611590</li><li>E->K at 658: in WR, MIM: 611590</li><li>Missing  at 663: in HS; Osnabruck II, MIM: 611590</li><li>L->P at 687: in HS, MIM: 109270</li><li>I->V at 688: in dbSNP:rs5022, MIM: 109270</li><li>S->G at 690: in dbSNP:rs5023, MIM: 109270</li><li>G->D at 701: in dRTA; autosomal recessive form, MIM: 611590</li><li>D->Y at 705: in HS, MIM: 109270</li><li>L->P at 707: in HS; Most, MIM: 109270</li><li>G->R at 714: in HS; Okinawa, MIM: 109270</li><li>S->P at 731: in HS, MIM: 109270</li><li>H->R at 734: in HS, MIM: 109270</li><li>R->Q at 760: in HS; Prague II, MIM: 109270</li><li>R->W at 760: in HS; Hradec Kralove, MIM: 109270</li><li>G->D at 771: in HS; Chur, MIM: 109270</li><li>S->P at 773: in dRTA; autosomal recessive form; with normal red cell morphology, MIM: 611590</li><li>I->N at 783: in HS; Napoli II, MIM: 109270</li><li>R->C at 808: in HS; Jablonec, MIM: 109270</li><li>R->H at 808: in HS; Nara, MIM: 109270</li><li>R->H at 832: in dbSNP:rs5025, MIM: 109270</li><li>H->P at 834: in HS; Birmingham, MIM: 109270</li><li>T->A at 837: in HS; Tokyo, MIM: 109270</li><li>T->M at 837: in HS; Philadelphia, MIM: 109270</li><li>Missing  at 850: in dRTA; autosomal recessive form, MIM: 109270</li><li>P->L at 854: in Di: in dbSNP rsrs2285644, MIM: 109270</li><li>A->D at 858: in dRTA; autosomal dominant form, MIM: 611590</li><li>V->I at 862: in dbSNP:rs5026, MIM: 611590</li><li>P->L at 868: in HS; HT, MIM: 109270</li><li>R->W at 870: in HS; Prague III; dbSNP:rs28931585, MIM: 109270</li>	<li>sulfate transport</li><li>iodide transport</li>	<li>GO:0008272</li><li>GO:0015705</li>					Q570B4	<li>Hereditary spherocytosis (HS) [MIM:109270]</li><li>Autosomal dominant distal renal tubular acidosis (dRTA) [MIM:179800]</li><li>Autosomal recessive distal renal tubular acidosis (dRTA) [MIM:611590]</li>	<li>rs2285644</li><li>rs28931583</li><li>rs5025</li><li>rs28931584</li><li>rs45568837</li><li>rs28931585</li><li>rs5035</li><li>rs5022</li><li>rs5023</li><li>rs5036</li><li>rs13306787</li><li>rs28929480</li><li>rs34700496</li><li>rs45562031</li><li>rs5037</li><li>rs5018</li><li>rs5026</li><li>rs5019</li>	2
P02735	6288		<li>G->S at 15: in dbSNP:rs712021</li><li>V->A at 70: in 2-alpha, 2-beta, 1-beta and 1-gamma: in dbSNP rsrs1136743</li><li>A->V at 75: in 2-alpha, 2-beta and 1-beta: in dbSNP rsrs1136747</li><li>D->N at 78: in 2-alpha and 2-beta</li><li>FF->LT at 86-87: in 2-alpha and 2-beta</li><li>H->R at 89: in 2-beta: in dbSNP rsrs2229338</li><li>G->D at 90: in 1-beta</li><li>E->K at 102: in 2-alpha and 2-beta: in dbSNP rsrs1059567</li><li>K->R at 108: in 2-alpha and 2-beta: in dbSNP rsrs1059571</li>									<li>rs1059567</li><li>rs2229338</li><li>rs1136747</li><li>rs712021</li><li>rs1059571</li><li>rs1136743</li>	2
P02743	325		<li>G->S at 141: in a breast cancer sample; somatic mutation</li><li>E->G at 155</li><li>S->G at 158</li>										2
P02745	712		<li>E->K at 23: in dbSNP:rs17887074</li>									rs17887074	2
P02746	713		<li>G->D at 40: in C1q deficiency, MIM: 120570</li><li>A->T at 121: in a breast cancer sample; somatic mutation, MIM: 120570</li>								C1q deficiency [MIM:120570]		2
P02747	714		<li>G->R at 34: in C1q deficiency, MIM: 120575</li>								C1q deficiency [MIM:120575]		2
P02748	735		<li>R->W at 5: in dbSNP:rs700233</li><li>C->G at 119: in C9D, MIM: 120940</li><li>D->Y at 127: in dbSNP:rs696763, MIM: 120940</li><li>I->V at 203: in dbSNP:rs13361416, MIM: 120940</li><li>T->S at 279: in dbSNP:rs34625111, MIM: 120940</li>								Component C9 deficiency (C9D) [MIM:120940]	<li>rs696763</li><li>rs700233</li><li>rs34625111</li><li>rs13361416</li>	2
P02749	350		<li>V->A at 5: in dbSNP:rs3826358</li><li>S->N at 107: in allele APOH*1; dbSNP:rs1801692</li><li>R->H at 154: in dbSNP:rs8178847</li><li>V->L at 266: in 23% of the population; dbSNP:rs4581</li><li>C->G at 325: loss of phosphatidylserine-binding; dbSNP:rs1801689</li><li>W->S at 335: in allele APOH*3W; loss of phosphatidylserine-binding; dbSNP:rs1801690</li>			phosphatidylserine-binding	GO:0001786			<li>P02749</li><li>Q95LB0</li><li>P33703</li><li>P17690</li>		<li>rs1801692</li><li>rs1801690</li><li>rs1801689</li><li>rs3826358</li><li>rs4581</li><li>rs8178847</li>	2
P02750	116844		<li>G->S at 64: in dbSNP:rs7251081</li><li>P->S at 133: in dbSNP:rs966384</li>									<li>rs7251081</li><li>rs966384</li>	2
P02751	2335		<li>Q->L at 15: in dbSNP:rs1250259</li><li>D->N at 940: in a breast cancer sample; somatic mutation</li><li>Y->C at 973: in GFND2, MIM: 601894</li><li>R->P at 1120: in a breast cancer sample; somatic mutation, MIM: 601894</li><li>W->R at 1834: in GFND2; reduced binding to heparin, endothelial cells and podocytes; impaired capability to induce stress-fiber formation, MIM: 601894</li><li>L->R at 1883: in GFND2; reduced binding to heparin, endothelial cells and podocytes; impaired capability to induce stress-fiber formation, MIM: 601894</li><li>I->V at 1960: in dbSNP:rs1250209, MIM: 601894</li><li>D->N at 2380: in a colorectal cancer sample; somatic mutation, MIM: 601894</li>			binding	GO:0005488	stress-fiber	GO:0001725		Glomerulopathy with fibronectin deposits type 2 (GFND2) [MIM:601894]	<li>rs1250209</li><li>rs1250259</li>	2
P02753	5950		<li>I->N at 59: in RBP deficiency</li><li>G->D at 93: in RBP deficiency</li>							<li>P02752</li><li>P04916</li><li>P02753</li><li>P27485</li><li>Q28369</li><li>P61641</li><li>Q00724</li><li>Q01688</li><li>P18902</li><li>P06912</li>			2
P02763	5004		<li>Q->R at 38: in allele ORM1*S</li><li>V->M at 174: in allele ORM1*F2; dbSNP:rs2636890: in dbSNP rsrs1126801</li>							<li>P02763</li><li>P25227</li><li>Q96495</li><li>P53224</li>		rs1126801	2
P02765	197		<li>T->M at 248: in allele AHSG*2; dbSNP:rs4917</li><li>T->S at 256: in allele AHSG*2; dbSNP:rs4918</li><li>D->N at 276: in allele AHSG*5</li><li>R->C at 317: in allele AHSG*3: in dbSNP rsrs35457250</li>							<li>Q9N2D0</li><li>O70159</li><li>P97515</li><li>P12763</li><li>P02765</li><li>P80191</li><li>P29700</li><li>P29701</li>		<li>rs4918</li><li>rs4917</li><li>rs35457250</li>	2
P02766	7276		<li>G->S at 26: common polymorphism; dbSNP:rs1800458</li><li>C->R at 30: in AMYL1; amyloid polyneuropathy, MIM: 176300</li><li>L->P at 32: in AMYL1, MIM: 176300</li><li>M->I at 33, MIM: 176300</li><li>D->E at 38: in AMYL1; amyloid polyneuropathy, MIM: 176300</li><li>D->G at 38: in AMYL7, MIM: 105210</li><li>V->I at 40: in AMYL1; late-onset amyloid polyneuropathy with carpal tunnel syndrome, MIM: 176300</li><li>S->N at 43: in AMYL1, MIM: 176300</li><li>P->S at 44: in AMYL1; amyloid polyneuropathy; dbSNP:rs11541790, MIM: 176300</li><li>V->M at 48: in AMYL1; amyloid polyneuropathy, MIM: 176300</li><li>V->A at 50: in AMYL1; amyloid polyneuropathy, MIM: 176300</li><li>V->G at 50: in AMYL1, MIM: 176300</li><li>V->L at 50: in AMYL1; amyloid polyneuropathy, MIM: 176300</li><li>V->M at 50: in AMYL1; amyloid polyneuropathy; by far the most frequent mutation: in dbSNP rsrs28933979, MIM: 176300</li><li>F->C at 53: in a patient with amyloidosis, MIM: 176300</li><li>F->I at 53: in AMYL1; Jewish 'SKO' amyloid polyneuropathy, MIM: 176300</li><li>F->L at 53: in AMYL1; amyloid polyneuropathy, MIM: 176300</li><li>F->V at 53: in AMYL1; amyloid polyneuropathy, MIM: 176300</li><li>R->T at 54: in AMYL1, MIM: 176300</li><li>K->N at 55: in AMYL1; amyloid polyneuropathy, MIM: 176300</li><li>A->P at 56: in AMYL1; amyloid polyneuropathy, MIM: 176300</li><li>D->A at 58: in AMYL1, MIM: 176300</li><li>D->V at 58: in AMYL1, MIM: 176300</li><li>W->L at 61: in AMYL1, MIM: 176300</li><li>E->D at 62: in AMYL1, MIM: 176300</li><li>E->G at 62: in AMYL1; amyloid polyneuropathy: in dbSNP rsrs11541796, MIM: 176300</li><li>F->S at 64: in AMYL1, MIM: 176300</li><li>A->D at 65: in AMYL1; amyloid cardiomyopathy, MIM: 176300</li><li>A->S at 65: in AMYL1, MIM: 176300</li><li>A->T at 65: in AMYL1; amyloid cardiomyopathy, MIM: 176300</li><li>G->A at 67: in AMYL1; amyloid polyneuropathy, MIM: 176300</li><li>G->E at 67: in AMYL1, MIM: 176300</li><li>G->R at 67: in AMYL1; amyloid polyneuropathy, MIM: 176300</li><li>G->V at 67: in AMYL1; amyloid polyneuropathy with carpal tunnel syndrome, MIM: 176300</li><li>T->A at 69: in AMYL1; amyloid polyneuropathy, MIM: 176300</li><li>T->I at 69: in AMYL1, MIM: 176300</li><li>S->I at 70: in AMYL1; amyloid cardiomyopathy, MIM: 176300</li><li>S->R at 70: in AMYL1; amyloid polyneuropathy, MIM: 176300</li><li>S->P at 72: in AMYL1; amyloid polyneuropathy, MIM: 176300</li><li>G->E at 73: in AMYL1, MIM: 176300</li><li>E->G at 74: in AMYL1; amyloid polyneuropathy, MIM: 176300</li><li>E->K at 74: in AMYL1; early-onset amyloid polyneuropathy, MIM: 176300</li><li>L->P at 75: in AMYL1; amyloid polyneuropathy, MIM: 176300</li><li>L->Q at 75: in AMYL1, MIM: 176300</li><li>L->H at 78: in AMYL1; amyloid polyneuropathy and carpal tunnel syndrome, MIM: 176300</li><li>L->R at 78: in AMYL1; amyloid polyneuropathy and carpal tunnel syndrome, MIM: 176300</li><li>T->K at 79: in AMYL1; amyloid cardiomyopathy, MIM: 176300</li><li>T->A at 80: in AMYL1; amyloid polyneuropathy and cardiomyopathy, MIM: 176300</li><li>E->G at 81: in AMYL1, MIM: 176300</li><li>E->K at 81: in AMYL1; amyloid polyneuropathy, MIM: 176300</li><li>F->L at 84: in AMYL1; amyloid polyneuropathy, MIM: 176300</li><li>I->L at 88: in AMYL1; amyloid cardiomyopathy, MIM: 176300</li><li>Y->H at 89: in AMYL7; vitreous amyloid in some patients, MIM: 105210</li><li>K->N at 90: in AMYL1; amyloid polyneuropathy and carpal tunnel syndrome, MIM: 176300</li><li>V->A at 91: in AMYL1; amyloid polyneuropathy, MIM: 176300</li><li>I->V at 93: in AMYL1; amyloid polyneuropathy, MIM: 176300</li><li>D->H at 94, MIM: 176300</li><li>S->Y at 97: in AMYL1; amyloid polyneuropathy, MIM: 176300</li><li>Y->F at 98: in AMYL1, MIM: 176300</li><li>I->N at 104: in AMYL1; vitrous amyloid, MIM: 176300</li><li>I->S at 104: in AMYL1; carpal tunnel syndrome; almost no RBP binding, MIM: 176300</li><li>I->T at 104: in AMYL1, MIM: 176300</li><li>E->K at 109: in AMYL1; amyloid polyneuropathy, MIM: 176300</li><li>E->Q at 109: in AMYL1; amyloid polyneuropathy and cardiomyopathy, MIM: 176300</li><li>H->N at 110, MIM: 176300</li><li>A->S at 111: in AMYL1; amyloid polyneuropathy, MIM: 176300</li><li>V->A at 114: in a patient with amyloidosis, MIM: 176300</li><li>A->G at 117: in AMYL1; amyloid polyneuropathy, MIM: 176300</li><li>A->S at 117: in AMYL1, MIM: 176300</li><li>G->S at 121, MIM: 176300</li><li>P->R at 122, MIM: 176300</li><li>R->C at 124, MIM: 176300</li><li>R->H at 124, MIM: 176300</li><li>T->N at 126: in AMYL1, MIM: 176300</li><li>I->M at 127: in AMYL1, MIM: 176300</li><li>I->V at 127: in AMYL1; amyloid polyneuropathy, MIM: 176300</li><li>A->T at 129: increased affinity for thyroxine, MIM: 176300</li><li>L->M at 131: in AMYL1, MIM: 176300</li><li>Y->C at 134: in AMYL1; amyloid polyneuropathy, MIM: 176300</li><li>Y->H at 134: in AMYL1; amyloid polyneuropathy and carpal tunnel syndrome, MIM: 176300</li><li>Y->S at 136: in AMYL1; amyloid polyneuropathy, MIM: 176300</li><li>Y->V at 136: requires 2 nucleotide substitutions, MIM: 176300</li><li>T->M at 139: in Chicago variant: in dbSNP rsrs28933981, MIM: 176300</li><li>A->S at 140: in AMYL1, MIM: 176300</li><li>V->A at 142: in AMYL1, MIM: 176300</li><li>V->I at 142: in AMYL1: in dbSNP rsrs28933980, MIM: 176300</li><li>N->S at 144: in AMYL1, MIM: 176300</li>			binding	GO:0005488			<li>P02752</li><li>P04916</li><li>P02753</li><li>P27485</li><li>Q28369</li><li>P61641</li><li>Q00724</li><li>Q01688</li><li>P18902</li><li>P06912</li>	<li>Amyloidosis type 7 (AMYL7) [MIM:105210]</li><li>Amyloidosis type 1 (AMYL1) [MIM:176300]</li>	<li>rs1800458</li><li>rs28933979</li><li>rs28933980</li><li>rs28933981</li><li>rs11541790</li><li>rs11541796</li>	2
P02768	213		<li>R->C at 23: in Redhill/Malmo-I/Tradate; associated with T-344 in Redhill</li><li>R->H at 23: in Fukuoka-2/Lille/Taipei/Varese/Komagome-3</li><li>R->L at 24: in Jaffna</li><li>R->P at 24: in Takefu/Honolulu-1</li><li>R->Q at 24: in Christchurch/Honolulu-2</li><li>D->V at 25: in Bleinheim/Iowa city-2</li><li>H->Q at 27: in Nagasaki-3</li><li>H->Y at 27: in Larino</li><li>F->Y at 73</li><li>E->K at 84: in Torino</li><li>D->N at 87: in Malmo-95/Dalakarlia</li><li>L->P at 90: in FDH, MIM: 103600</li><li>E->K at 106: in Vibo Valentia, MIM: 103600</li><li>E->G at 121, MIM: 103600</li><li>R->G at 138: in Yanomama-2, MIM: 103600</li><li>E->K at 143: in Nagoya, MIM: 103600</li><li>V->E at 146: in Tregasio, MIM: 103600</li><li>H->R at 152: in Komagome-2, MIM: 103600</li><li>C->F at 201: in Hawkes bay, MIM: 103600</li><li>A->T at 215: in dbSNP:rs3210154, MIM: 103600</li><li>A->V at 215: in dbSNP:rs3204504, MIM: 103600</li><li>Q->L at 220: in dbSNP:rs3210163, MIM: 103600</li><li>R->H at 242: in FDH, MIM: 103600</li><li>R->P at 242: in FDH, MIM: 103600</li><li>K->Q at 249: in Tradate-2, MIM: 103600</li><li>K->E at 264: in Herborn, MIM: 103600</li><li>Q->R at 292: in Malmo-10, MIM: 103600</li><li>D->G at 293: in Nagasaki-1, MIM: 103600</li><li>K->N at 300: in Caserta, MIM: 103600</li><li>K->N at 337: in Canterbury/New Guinea/Tagliacozzo/Cuneo/Cooperstown, MIM: 103600</li><li>D->G at 338: in Bergamo, MIM: 103600</li><li>D->V at 338: in Brest, MIM: 103600</li><li>N->K at 342: in Malmo-47, MIM: 103600</li><li>A->T at 344: in Redhill; associated with C-23, MIM: 103600</li><li>E->K at 345: in Roma, MIM: 103600</li><li>E->K at 357: in Sondrio, MIM: 103600</li><li>E->K at 378: in Hiroshima-1, MIM: 103600</li><li>E->K at 382: in Coari I/Porto Alegre, MIM: 103600</li><li>K->N at 383: in Trieste, MIM: 103600</li><li>D->H at 389: in Parklands, MIM: 103600</li><li>D->V at 389: in Iowa city-1, MIM: 103600</li><li>K->E at 396: in Naskapi/Mersin/Komagome-1, MIM: 103600</li><li>D->N at 399: in Nagasaki-2, MIM: 103600</li><li>E->K at 400: in Tochigi, MIM: 103600</li><li>E->Q at 400: in Malmo-5, MIM: 103600</li><li>E->K at 406: in Hiroshima-2, MIM: 103600</li><li>E->K at 420, MIM: 103600</li><li>R->C at 434: in Liprizzi, MIM: 103600</li><li>K->E at 490: in dbSNP:rs1063469, MIM: 103600</li><li>E->K at 503: in Dublin, MIM: 103600</li><li>D->N at 518: in Casebrook, MIM: 103600</li><li>E->K at 525: in Manaus-1/Adana/Lambadi/Vancouver, MIM: 103600</li><li>E->K at 529: in Ortonovo, MIM: 103600</li><li>V->M at 557: in Maddaloni, MIM: 103600</li><li>K->E at 560: in Castel di Sangro, MIM: 103600</li><li>K->E at 565: in Maku, MIM: 103600</li><li>D->A at 574: in Malmo-61, MIM: 103600</li><li>D->G at 574: in Mexico, MIM: 103600</li><li>K->E at 584: in Church bay, MIM: 103600</li><li>D->N at 587: in Fukuoka-1/Paris-2, MIM: 103600</li><li>E->K at 589: in Osaka-1, MIM: 103600</li><li>E->K at 594: in Osaka-2/Phnom Phen/albumin B/Verona, MIM: 103600</li><li>GKKLVAASQAALGL- at 596-609: in Venezia, MIM: 103600</li><li>K->E at 597: in Gent/Milano Fast, MIM: 103600</li><li>K->N at 598: in Vanves, MIM: 103600</li><li>LVAASQAALGL->TC at 599-609: in Kenitra, MIM: 103600</li>							<li>P79896</li><li>P11766</li><li>Q570B4</li><li>Q03134</li><li>P32771</li><li>O19053</li><li>P19854</li><li>P25437</li><li>P12711</li><li>P80467</li><li>Q9S7E4</li><li>P93629</li><li>P73138</li><li>P81600</li><li>P81601</li><li>Q07103</li><li>P33677</li><li>P72324</li><li>Q07511</li><li>P80360</li><li>Q96533</li><li>Q06099</li><li>P44557</li><li>O74685</li><li>P46415</li><li>P33160</li><li>O74540</li><li>P47734</li><li>P80572</li><li>P39450</li><li>Q17335</li><li>P46154</li><li>Q9ZRI8</li><li>P81431</li><li>P28474</li><li>P78870</li><li>P93436</li>	Familial dysalbuminemic hyperthyroxinemia (FDH) [MIM:103600]	<li>rs3204504</li><li>rs3210154</li><li>rs1063469</li><li>rs3210163</li>	2
P02771	174		<li>K->Q at 187: in dbSNP:rs35765619</li><li>A->G at 570: in dbSNP:rs7790</li>									<li>rs35765619</li><li>rs7790</li>	2
P02774	2638		<li>D->E at 432: in allele GC*1S; dbSNP:rs7041</li><li>K->T at 436: in allele GC*1F and allele GC*1S; dbSNP:rs4588</li><li>R->C at 445: in allele GC*2A9</li><li>R->H at 445: in allele GC*1A1; dbSNP:rs9016</li>									<li>rs9016</li><li>rs7041</li><li>rs4588</li>	2
P02787	7018		<li>R->L at 42: in dbSNP:rs41298293</li><li>S->R at 55: in dbSNP:rs8177318</li><li>A->V at 76: in dbSNP:rs41298977</li><li>D->N at 77: in atransferrinemia, MIM: 209300</li><li>G->S at 142: in dbSNP:rs1799830, MIM: 209300</li><li>G->S at 277: in allele TF*C3; associated with a reduction in total iron binding capacity; risk factor for iron deficiency anemia in menstruating white women; dbSNP:rs1799899, MIM: 209300</li><li>D->G at 296: in allele TF*D1; dbSNP:rs8177238, MIM: 209300</li><li>H->R at 319: in allele TF*CHI: in dbSNP rsrs41295774, MIM: 209300</li><li>W->C at 377: in dbSNP:rs1804498, MIM: 209300</li><li>A->P at 477: in atransferrinemia, MIM: 209300</li><li>G->V at 562: in dbSNP:rs41296590, MIM: 209300</li><li>P->S at 589: in allele TF*C2; dbSNP:rs1049296, MIM: 209300</li><li>T->P at 645: in dbSNP:rs1130537, MIM: 209300</li><li>K->E at 646: in allele TF*BV, MIM: 209300</li><li>G->E at 671: in allele TF*B2, MIM: 209300</li>			iron binding	GO:0005506			<li>Q08704</li><li>P41089</li><li>Q9LKC3</li><li>Q43754</li><li>Q43056</li><li>P41088</li><li>O22651</li><li>P14298</li><li>P51117</li><li>O81980</li><li>O65333</li><li>Q42663</li>	Atransferrinemia [MIM:209300]	<li>rs1799830</li><li>rs1049296</li><li>rs1130537</li><li>rs41296590</li><li>rs1799899</li><li>rs1804498</li><li>rs41295774</li><li>rs41298977</li><li>rs8177318</li><li>rs8177238</li><li>rs41298293</li>	2
P02790	3263		<li>D->N at 52: in dbSNP:rs10839564</li><li>R->W at 83: in dbSNP:rs12117</li>									<li>rs10839564</li><li>rs12117</li>	2
P02792	2512		<li>A->T at 96: in neuroferritinopathy, MIM: 606159</li>								Neuroferritinopathy [MIM:606159]		2
P02795	4502		<li>A->V at 42: in dbSNP rsrs35109646</li>									rs35109646	2
P02810	5555		<li>D->N at 20: in allele PRH1-PIF, allele PRH1-PA and allele PRH1-DB: in dbSNP rsrs1130404</li><li>I->L at 42: in allele PRH1-PA and allele PRH1-DB; dbSNP:rs2923234</li><li>D->N at 66: in allele PRH2-1; dbSNP:rs1049112</li><li>Q->QGGQQQQGPPPP at 97: in allele PRH1-DB</li><li>R->C at 119: in allele PRH1-PA; interferes with proteolytic cleavage at Arg-122</li><li>Q->K at 163: in allele PRH2-3</li>							<li>Q6G7E9</li><li>P02810</li><li>Q8NVE3</li><li>P60086</li><li>Q4JIM5</li><li>P60087</li><li>Q6GER3</li><li>P60088</li>		<li>rs1130404</li><li>rs2923234</li>	2
P02812			<li>S->P at 274: may abrogate glycosylation at N-272; dbSNP:rs10845349</li>										2
P02818	632		<li>R->Q at 94: in dbSNP:rs34702397</li>									rs34702397	2
P03886	4535		<li>A->T at 4: in NIDDM</li><li>Y->H at 30: in LHON; secondary mutation; does not seem to directly cause the disease, MIM: 535000</li><li>M->T at 31: in MELAS, MIM: 540000</li><li>M->V at 31: in AD, MIM: 502500</li><li>A->T at 52: in LHON; primary mutation; medium severity; some vision recovery; 80% reduction in rotenone-sensitive and ubiquinone-dependent electron transfer activity, whereas the proximal NADH dehydrogenase activity of the complex is unaffected, MIM: 535000</li><li>T->A at 87, MIM: 535000</li><li>T->A at 168, MIM: 535000</li><li>S->P at 205, MIM: 535000</li><li>Y->C at 255, MIM: 535000</li><li>Y->C at 277, MIM: 535000</li><li>L->P at 285: in LHON; secondary mutation; does not seem to directly cause the disease, MIM: 535000</li><li>L->P at 288, MIM: 535000</li><li>Y->H at 304: in LHON; secondary mutation; does not seem to directly cause the disease, MIM: 535000</li>	<li>vision</li><li>electron transfer</li>	<li>GO:0007601</li><li>GO:0006118</li>					<li>P00393</li><li>P44856</li><li>P26829</li><li>P42974</li><li>Q60049</li>	<li>Mitochondrial susceptibility to Alzheimer disease (AD) [MIM:502500]</li><li>Leber hereditary optic neuropathy (LHON) [MIM:535000]</li><li>Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]</li>		2
P03891	4536		<li>P->L at 42</li><li>V->I at 43</li><li>I->T at 57</li><li>Q->R at 63</li><li>I->V at 69</li><li>N->S at 88</li><li>T->A at 119</li><li>S->P at 148</li><li>N->D at 150: in LHON; secondary mutation; does not seem to directly cause the disease, MIM: 535000</li><li>N->S at 150, MIM: 535000</li><li>I->T at 159, MIM: 535000</li><li>T->A at 185, MIM: 535000</li><li>L->M at 237, MIM: 535000</li><li>G->S at 259: in LHON; rare primary mutation, MIM: 535000</li><li>A->T at 265, MIM: 535000</li><li>A->V at 265, MIM: 535000</li><li>I->T at 278, MIM: 535000</li><li>F->L at 325, MIM: 535000</li><li>A->S at 331: in AD, MIM: 502500</li><li>A->T at 331, MIM: 502500</li><li>T->A at 333, MIM: 502500</li>								<li>Mitochondrial susceptibility to Alzheimer disease (AD) [MIM:502500]</li><li>Leber hereditary optic neuropathy (LHON) [MIM:535000]</li>		2
P03897			<li>N->D at 10</li><li>S->P at 45: in complex I deficiency</li><li>A->T at 47: in LS, MIM: 256000</li><li>M->V at 53, MIM: 256000</li><li>T->A at 114, MIM: 256000</li>							Q07842	Leigh syndrome (LS) [MIM:256000]		2
P03901	4539		<li>C->R at 32: in colorectal cancer</li><li>M->I at 36</li><li>N->S at 57</li><li>I->T at 61</li><li>V->A at 65: in LHON; possible rare primary mutation, MIM: 535000</li>								Leber hereditary optic neuropathy (LHON) [MIM:535000]		2
P03905	4538		<li>A->P at 79</li><li>T->A at 109: in MELAS, MIM: 540000</li><li>T->P at 109, MIM: 540000</li><li>I->T at 132, MIM: 540000</li><li>M->T at 294, MIM: 540000</li><li>V->I at 313: in LDYT; possible rare primary mutation, MIM: 500001</li><li>R->H at 340: in LHON; primary mutation; almost no vision recovery; most frequent mutation; seems to have no effect on electron transfer activity of the complex in inner mitochondrial membrane preparations, MIM: 535000</li>	<li>vision</li><li>electron transfer</li>	<li>GO:0007601</li><li>GO:0006118</li>			mitochondrial membrane	GO:0005740		<li>Leber hereditary optic neuropathy (LHON) [MIM:535000]</li><li>Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001]</li><li>Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]</li>		2
P03915			<li>P->S at 17</li><li>F->S at 95</li><li>S->P at 99</li><li>F->L at 124: in LS; due to mitochondrial complex I deficiency, MIM: 256000</li><li>E->G at 145: in MELAS, MIM: 540000</li><li>G->D at 146, MIM: 540000</li><li>A->V at 160, MIM: 540000</li><li>N->S at 165, MIM: 540000</li><li>A->V at 171: in LHON, MIM: 535000</li><li>T->P at 211, MIM: 535000</li><li>A->T at 236: in MELAS/MERRF/LS; due to mitochondrial complex I deficiency, MIM: 535000</li><li>M->L at 237: in MELAS/LHON/LS; due to mitochondrial complex I deficiency, MIM: 535000</li><li>S->C at 250: in MELAS/LS; due to mitochondrial complex I deficiency, MIM: 535000</li><li>I->V at 257, MIM: 535000</li><li>F->S at 304, MIM: 535000</li><li>M->V at 314, MIM: 535000</li><li>T->A at 331, MIM: 535000</li><li>D->N at 393: in MELAS, MIM: 540000</li><li>A->T at 458: in LHON; secondary mutation; does not seem to directly cause the disease, MIM: 535000</li><li>G->E at 465: in LHON; primary rare mutation, MIM: 535000</li><li>A->T at 475, MIM: 535000</li><li>D->G at 503, MIM: 535000</li>							Q07842	<li>Leigh syndrome (LS) [MIM:256000]</li><li>Leber hereditary optic neuropathy (LHON) [MIM:535000]</li><li>Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]</li>		2
P03923	4541		<li>I->M at 26: in LDYT; possible rare primary mutation, MIM: 500001</li><li>V->A at 31, MIM: 500001</li><li>I->V at 33, MIM: 500001</li><li>G->S at 36: in LHON; possible rare primary mutation, MIM: 535000</li><li>I->V at 58, MIM: 535000</li><li>Y->C at 59: in LHON; possible rare primary mutation, MIM: 535000</li><li>L->S at 60: in LHON; possible rare primary mutation, MIM: 535000</li><li>M->I at 64: in LHON; possible rare primary mutation, MIM: 535000</li><li>M->V at 64: in LHON; primary mutation; low severity; up to 50% of vision recovery, MIM: 535000</li><li>A->V at 72: in LDYT; primary mutation; most severe mutation with no vision recovery; rare mutation, MIM: 500001</li><li>A->V at 74: in MELAS, MIM: 540000</li><li>Y->C at 165, MIM: 540000</li>	vision	GO:0007601						<li>Leber hereditary optic neuropathy (LHON) [MIM:535000]</li><li>Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001]</li><li>Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]</li>		2
P03928	4509		<li>L->P at 17</li><li>F->S at 21</li><li>M->T at 28</li>										2
P03951	2160		<li>D->H at 34: in F11 deficiency, MIM: 612416</li><li>C->F at 46: in F11 deficiency, MIM: 612416</li><li>C->R at 56: in F11 deficiency; autosomal dominant; secretion of the mutant protein is impaired, MIM: 612416</li><li>P->L at 66: in dbSNP:rs5968, MIM: 612416</li><li>K->R at 101: in F11 deficiency, MIM: 612416</li><li>Y->C at 151: in F11 deficiency, MIM: 612416</li><li>Q->R at 244: in F11 deficiency; dbSNP:rs5969, MIM: 612416</li><li>W->C at 246: in F11 deficiency, MIM: 612416</li><li>C->Y at 255: in F11 deficiency; secretion of the mutant protein is impaired, MIM: 612416</li><li>G->E at 263: in F11 deficiency, MIM: 612416</li><li>S->N at 266: in F11 deficiency, MIM: 612416</li><li>K->I at 270: in F11 deficiency; although the mutant protein is synthesized the secretion is reduced, MIM: 612416</li><li>F->L at 301: in F11 deficiency; frequent mutation in Ashkenazi patients, MIM: 612416</li><li>I->F at 308: in dbSNP:rs5972, MIM: 612416</li><li>L->P at 320: in F11 deficiency, MIM: 612416</li><li>T->I at 322: in F11 deficiency, MIM: 612416</li><li>R->C at 326: in F11 deficiency: in dbSNP rsrs28934608, MIM: 612416</li><li>C->F at 339: in dbSNP:rs5967, MIM: 612416</li><li>E->K at 341: in F11 deficiency, MIM: 612416</li><li>W->R at 399: in dbSNP:rs1800439, MIM: 612416</li><li>T->N at 404: in F11 deficiency, MIM: 612416</li><li>G->V at 418: in F11 deficiency; autosomal dominant; mutant is not secreted by transfected fibroblasts; dominant-negative effect, MIM: 612416</li><li>A->V at 430: in F11 deficiency: in dbSNP rsrs28934901, MIM: 612416</li><li>F->V at 460: in F11 deficiency, MIM: 612416</li><li>T->I at 493: in F11 deficiency, MIM: 612416</li><li>Y->H at 511: in F11 deficiency; transfected cells contain reduced amount of mutant protein and display decreased secretion, MIM: 612416</li><li>P->L at 538: in F11 deficiency, MIM: 612416</li><li>E->K at 565: in F11 deficiency, MIM: 612416</li><li>W->S at 587: in F11 deficiency; autosomal dominant; mutant is not secreted by transfected fibroblasts; dominant-negative effect, MIM: 612416</li><li>S->R at 594: in F11 deficiency: in dbSNP rsrs28934609, MIM: 612416</li><li>I->S at 618: in F11 deficiency, MIM: 612416</li>	secretion	GO:0046903					<li>P29886</li><li>Q5NTB3</li><li>Q85281</li><li>P03951</li><li>P07618</li><li>Q91Y47</li>	F11 deficiency [MIM:612416]	<li>rs1800439</li><li>rs28934609</li><li>rs28934901</li><li>rs5969</li><li>rs28934608</li><li>rs5967</li><li>rs5972</li><li>rs5968</li>	2
P03952	3818		<li>G->R at 123: in PKK deficiency; reduces the binding activity of Apple domain 2 to HMW kininogen, MIM: 612423</li><li>N->S at 143: in PKK deficiency; reduces the binding activity of Apple domain 2 to HMW kininogen; dbSNP:rs3733402, MIM: 612423</li><li>A->T at 178: in dbSNP:rs4253257, MIM: 612423</li><li>H->Q at 202: in dbSNP:rs4253373, MIM: 612423</li><li>H->P at 208, MIM: 612423</li><li>A->E at 210: in dbSNP:rs2278542, MIM: 612423</li><li>S->C at 269: in dbSNP:rs4253376, MIM: 612423</li><li>F->V at 311: in dbSNP:rs4253377, MIM: 612423</li><li>T->A at 358: in dbSNP:rs4253379, MIM: 612423</li><li>S->A at 381: in dbSNP:rs4253301, MIM: 612423</li><li>Q->P at 442: in dbSNP:rs4253316, MIM: 612423</li><li>C->Y at 548: in PKK deficiency, MIM: 612423</li><li>R->Q at 560: in dbSNP:rs4253325, MIM: 612423</li>			binding	GO:0005488			<li>P83857</li><li>P83856</li>	Prekallikrein deficiency (PKK deficiency) [MIM:612423]	<li>rs4253379</li><li>rs4253257</li><li>rs2278542</li><li>rs3733402</li><li>rs4253373</li><li>rs4253376</li><li>rs4253325</li><li>rs4253316</li><li>rs4253377</li><li>rs4253301</li>	2
P03956	4312		<li>Q->P at 29: in dbSNP:rs554499</li><li>I->V at 191: in dbSNP:rs17879973</li><li>D->G at 252: in dbSNP:rs513964</li><li>R->S at 262: in dbSNP:rs12282811</li><li>R->Q at 405: in dbSNP:rs17879165</li><li>S->T at 406: in dbSNP:rs17884120</li>									<li>rs12282811</li><li>rs554499</li><li>rs17879165</li><li>rs513964</li><li>rs17884120</li><li>rs17879973</li>	2
P03971			<li>V->G at 12: in PMDS-1, MIM: 261550</li><li>I->S at 49: in dbSNP:rs10407022, MIM: 261550</li><li>L->P at 70: in PMDS-1, MIM: 261550</li><li>G->V at 101: in PMDS-1, MIM: 261550</li><li>R->W at 123: in PMDS-1, MIM: 261550</li><li>Y->C at 167: in PMDS-1, MIM: 261550</li><li>Q->E at 185, MIM: 261550</li><li>R->C at 194: in PMDS-1, MIM: 261550</li><li>Q->R at 325, MIM: 261550</li><li>V->A at 477: in PMDS-1, MIM: 261550</li><li>H->Q at 506: in PMDS-1, MIM: 261550</li><li>C->Y at 525: in PMDS-1, MIM: 261550</li>								Persistent Muellerian duct syndrome type 1 (PMDS-1) [MIM:261550]	rs10407022	2
P03989			<li>Y->H at 83: in allele B*2703</li><li>D->N at 101: in allele B*2702</li><li>D->S at 101: in allele B*2704, allele B*2706 and allele B*2708; requires 2 nucleotide substitutions</li><li>TL->IA at 104-105: in allele B*2702</li><li>T->N at 104: in allele B*2708</li><li>LR->RG at 106-107: in allele B*2708</li><li>N->S at 121: in allele B*2707</li><li>YH->HN at 137-138: in allele B*2707</li><li>H->D at 138: in allele B*2706</li><li>D->H at 140: in allele B*2709</li><li>D->Y at 140: in allele B*2706 and allele B*2707</li><li>S->R at 155: in allele B*2707</li><li>V->E at 176: in allele B*2704 and allele B*2706</li><li>A->G at 235: in allele B*2704 and allele B*2706</li>										2
P03992	3119		<li>A->S at 6: in dbSNP:rs1049056</li><li>D->G at 12: in dbSNP:rs1049057</li><li>V->A at 15: in dbSNP:rs3189152</li><li>A->S at 23: in dbSNP:rs3891176</li><li>M->I at 24: in dbSNP:rs1049059</li><li>F->Y at 41: in dbSNP:rs9274407</li><li>G->R at 102: in dbSNP:rs1130386</li><li>T->R at 109: in dbSNP:rs1130392</li><li>V->I at 148: in dbSNP:rs1049100</li><li>G->S at 157: in dbSNP:rs1049107</li><li>E->D at 194: in dbSNP:rs9273952</li><li>T->I at 217: in dbSNP:rs1130399</li>									<li>rs3189152</li><li>rs1130399</li><li>rs1049056</li><li>rs1049057</li><li>rs1049107</li><li>rs1049059</li><li>rs1049100</li><li>rs3891176</li><li>rs1130392</li><li>rs9273952</li><li>rs1130386</li><li>rs9274407</li>	2
P03999	611		<li>G->R at 79: in tritanopia, MIM: 190900</li><li>S->P at 214: in tritanopia, MIM: 190900</li><li>P->S at 264: in tritanopia, MIM: 190900</li>								Tritan color blindness (tritanopia) [MIM:190900]		2
P04000	5956		<li>T->I at 65: in dbSNP:rs1065419</li><li>I->V at 111: in dbSNP:rs1065421</li><li>S->Y at 116: in dbSNP:rs1065422</li><li>L->M at 153: in dbSNP:rs713</li><li>A->V at 174: in dbSNP:rs731613</li><li>S->A at 180: in 38% of the population; dbSNP:rs949431</li><li>C->R at 203: in CBP, MIM: 303900</li><li>I->T at 230: in dbSNP:rs1065425, MIM: 303900</li><li>I->V at 274: in dbSNP:rs2315122, MIM: 303900</li><li>A->P at 298: in dbSNP:rs1065440, MIM: 303900</li><li>P->L at 307: in CBP, MIM: 303900</li><li>Y->F at 309: in dbSNP:rs1065441, MIM: 303900</li>							<li>O42720</li><li>P0AEN0</li><li>P0AEM9</li><li>Q9NWQ8</li><li>Q92793</li><li>Q39962</li><li>P00303</li><li>Q61990</li>	Partial colorblindness protan series (CBP) [MIM:303900]	<li>rs2315122</li><li>rs1065441</li><li>rs1065440</li><li>rs1065422</li><li>rs1065421</li><li>rs713</li><li>rs1065425</li><li>rs1065419</li><li>rs731613</li>	2
P04001	2652		<li>C->R at 203: in CBD, MIM: 303800</li>								Partial colorblindness deutan series (CBD) [MIM:303800]		2
P04003	722		<li>A->V at 60: in dbSNP:rs17020956</li><li>I->T at 300: in dbSNP:rs4844573</li><li>Y->H at 357</li><li>W->L at 473: in dbSNP:rs1801341</li>									<li>rs4844573</li><li>rs17020956</li><li>rs1801341</li>	2
P04035	3156		<li>I->V at 638: in dbSNP:rs5908</li>									rs5908	2
P04049	5894		<li>R->S at 256: in NS5, MIM: 611553</li><li>S->L at 257: in NS5 and LEOPARD sndrome-2; shows in vitro greater kinase activity and enhanced ERK activation than wild-type, MIM: 611553</li><li>S->A at 259: in an ovarian serous carcinoma sample; somatic mutation, MIM: 611553</li><li>S->F at 259: in NS5, MIM: 611553</li><li>T->I at 260: in hypertrophic cardiomyopathy, MIM: 611553</li><li>T->R at 260: in NS5, MIM: 611553</li><li>P->A at 261: in NS5; shows in vitro greater kinase activity and enhanced MAPK1 activation than wild-type, MIM: 611553</li><li>P->L at 261: in NS5; shows greater kinase activity and enhanced MAPK1 activation than wild-type, MIM: 611553</li><li>P->S at 261: in NS5; shows in vitro greater kinase activity and enhanced MAPK1 activation than wild-type, MIM: 611553</li><li>V->A at 263: in NS5; shows in vitro greater kinase activity and enhanced MAPK1 activation than wild-type, MIM: 611553</li><li>P->L at 308: in dbSNP:rs5746220, MIM: 611553</li><li>Q->H at 335: in a lung adenocarcinoma sample; somatic mutation, MIM: 611553</li><li>D->G at 486: in NS5, MIM: 611553</li><li>D->N at 486: in NS5; has reduced or absent kinase activity, MIM: 611553</li><li>T->I at 491: in NS5; has reduced or absent kinase activity, MIM: 611553</li><li>T->R at 491: in NS5, MIM: 611553</li><li>S->T at 612: in NS5, MIM: 611553</li><li>L->V at 613: in NS5 and LEOPARD syndrome-2; shows in vitro greater kinase activity and enhanced MAPK1 activation than wild-type, MIM: 611553</li>			kinase activity	GO:0016301			<li>P27395</li><li>P27915</li><li>Q01299</li><li>P33478</li><li>P12823</li><li>P46196</li><li>P29837</li><li>P05769</li><li>P07564</li><li>P07720</li><li>P28482</li><li>P19110</li><li>P33515</li><li>P32886</li><li>P06935</li><li>P29323</li><li>P29990</li><li>Q04538</li><li>P29991</li><li>P09866</li><li>P14336</li><li>Q5Z9J0</li><li>P14335</li>	<li>LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]</li><li>Noonan syndrome type 5 (NS5) [MIM:611553]</li>	rs5746220	2
P04054	5319		<li>D->A at 16: in dbSNP:rs5632</li><li>N->K at 89: in dbSNP:rs5636</li><li>N->T at 89: in dbSNP:rs5635</li>									<li>rs5635</li><li>rs5636</li><li>rs5632</li>	2
P04066	2517		<li>R->W at 2: in dbSNP:rs2070955</li><li>P->R at 10: in dbSNP:rs2070956</li><li>G->D at 65: in FUCA1D; loss of activity, MIM: 230000</li><li>S->L at 68: in FUCA1D, MIM: 230000</li><li>P->L at 146: in dbSNP:rs2228424, MIM: 230000</li><li>V->I at 260: in dbSNP:rs665, MIM: 230000</li><li>C->S at 269: in dbSNP:rs1126512, MIM: 230000</li><li>Q->R at 286: in allele FUCA1*2; dbSNP:rs13551, MIM: 230000</li><li>L->R at 410: in FUCA1D; less than 1% of residual activity, MIM: 230000</li>							<li>Q60HF8</li><li>P48300</li><li>P04066</li>	Fucosidosis (FUCA1D) [MIM:230000]	<li>rs13551</li><li>rs2228424</li><li>rs2070955</li><li>rs1126512</li><li>rs665</li><li>rs2070956</li>	2
P04070	5624		<li>W->G at 14: in patients with PROC deficiency</li><li>R->C at 32: in ADPROCD, MIM: 176860</li><li>R->W at 38: in patients with PROC deficiency, MIM: 176860</li><li>R->C at 42: in patients with PROC deficiency, MIM: 176860</li><li>R->H at 42: in Malakoff; low anticoagulant activity, MIM: 176860</li><li>R->S at 42: in ADPROCD; type II; Osaka-10; alters proteolytic processing so that S-42 is the N-terminus of the mature protein, MIM: 176860</li><li>A->T at 43, MIM: 176860</li><li>E->D at 49: in patients with PROC deficiency, MIM: 176860</li><li>R->C at 51: in patients with PROC deficiency, MIM: 176860</li><li>R->G at 57: in Yonago; defective anticoagulant activity, MIM: 176860</li><li>R->Q at 57: in patients with PROC deficiency, MIM: 176860</li><li>R->W at 57: in ADPROCD, MIM: 176860</li><li>E->A at 62: in ADPROCD; Vermont-1, MIM: 176860</li><li>V->M at 76: in ADPROCD; Vermont-1, MIM: 176860</li><li>G->C at 89: in patients with PROC deficiency, MIM: 176860</li><li>H->N at 108: in patients with PROC deficiency; La Jolla-1, MIM: 176860</li><li>G->R at 109: in patients with PROC deficiency, MIM: 176860</li><li>Missing  at 114-118: in patients with PROC deficiency, MIM: 176860</li><li>G->R at 114: in ADPROCD, MIM: 176860</li><li>F->L at 118: in patients with PROC deficiency, MIM: 176860</li><li>Missing  at 119-124: in patients with PROC deficiency; St Louis-2, MIM: 176860</li><li>Missing  at 120-125: in patients with PROC deficiency; St Louis-3, MIM: 176860</li><li>NG->K at 144-145: in ARPROCD; neonatal purpura fulminans, MIM: 176860</li><li>G->R at 145: in ADPROCD, MIM: 176860</li><li>C->Y at 147: in patients with PROC deficiency, MIM: 176860</li><li>H->P at 149: in patients with PROC deficiency, MIM: 176860</li><li>S->R at 161: in patients with PROC deficiency, MIM: 176860</li><li>A->P at 178: in ARPROCD; Clamart, MIM: 612304</li><li>C->R at 183: in patients with PROC deficiency, MIM: 612304</li><li>R->W at 189: in patients with PROC deficiency; La Jolla-3, MIM: 612304</li><li>R->C at 194: in patients with PROC deficiency, MIM: 612304</li><li>P->L at 210: in ADPROCD, MIM: 176860</li><li>R->Q at 211: in patients with PROC deficiency: in dbSNP rsrs28933987, MIM: 176860</li><li>R->W at 211: in ADPROCD; London-1/Tochigi: in dbSNP rsrs28933986, MIM: 176860</li><li>R->P at 220: in patients with PROC deficiency, MIM: 176860</li><li>R->Q at 220: in ADPROCD; Vermont-3, MIM: 176860</li><li>R->W at 220: in ADPROCD, MIM: 176860</li><li>Q->H at 226: in patients with PROC deficiency, MIM: 176860</li><li>I->T at 243: in ADPROCD, MIM: 176860</li><li>H->Y at 244: in patients with PROC deficiency, MIM: 176860</li><li>H->Q at 253: in patients with PROC deficiency, MIM: 176860</li><li>L->F at 265: in patients with PROC deficiency, MIM: 176860</li><li>R->Q at 271: in Marseille; low anticoagulant activity, MIM: 176860</li><li>R->W at 271: in patients with PROC deficiency, MIM: 176860</li><li>R->C at 272: in ADPROCD, MIM: 176860</li><li>D->DLD at 281: in patients with PROC deficiency, MIM: 176860</li><li>P->L at 289: in ARPROCD, MIM: 612304</li><li>S->N at 294: in Paris; low anticoagulant activity, MIM: 612304</li><li>N->D at 298: in patients with PROC deficiency, MIM: 612304</li><li>A->T at 301: in patients with PROC deficiency, MIM: 612304</li><li>A->V at 301: in patients with PROC deficiency, MIM: 612304</li><li>A->T at 309: in patients with PROC deficiency, MIM: 612304</li><li>S->L at 312: in patients with PROC deficiency, MIM: 612304</li><li>S->P at 312: in a patient with PROC deficiency; sporadic case, MIM: 612304</li><li>P->L at 321: in ADPROCD, MIM: 176860</li><li>G->R at 324: in ADPROCD, MIM: 176860</li><li>R->C at 328: in ADPROCD, MIM: 176860</li><li>R->H at 328: in ARPROCD; Muenchen, MIM: 612304</li><li>G->S at 334: in ARPROCD, MIM: 612304</li><li>T->M at 340: in ADPROCD; Vermont-2, MIM: 176860</li><li>G->D at 343: in patients with PROC deficiency, MIM: 176860</li><li>Missing  at 363: in patients with PROC deficiency, MIM: 176860</li><li>V->A at 367: in ARPROCD; neonatal purpura fulminans, MIM: 612304</li><li>P->L at 369: in ADPROCD; Osaka-6, MIM: 176860</li><li>M->I at 385: in patients with PROC deficiency, MIM: 176860</li><li>A->T at 388: in patients with PROC deficiency, MIM: 176860</li><li>A->V at 388: in patients with PROC deficiency, MIM: 176860</li><li>G->R at 392: in ADPROCD; Osaka-9, MIM: 176860</li><li>R->W at 394: in patients with PROC deficiency, MIM: 176860</li><li>D->N at 401: in ADPROCD; La Jolla-2/Osaka-7 and -8, MIM: 176860</li><li>G->D at 418: in ARPROCD; Hong Kong-2, MIM: 612304</li><li>G->S at 423: in ADPROCD, MIM: 176860</li><li>C->Y at 426: in ADPROCD, MIM: 176860</li><li>G->S at 433: in patients with PROC deficiency; Purmerend, MIM: 176860</li><li>T->N at 436: in ADPROCD, MIM: 176860</li><li>Y->H at 441: in ADPROCD; Osaka-4, MIM: 176860</li><li>W->C at 444: in ADPROCD, MIM: 176860</li><li>I->M at 445: in patients with PROC deficiency, MIM: 176860</li>							<li>Q28315</li><li>Q28412</li><li>Q28661</li><li>Q04708</li><li>P04070</li><li>Q28278</li><li>Q9GLP2</li><li>Q28506</li><li>Q28380</li><li>P00745</li>	<li>Protein C deficiency autosomal recessive (ARPROCD) [MIM:612304]</li><li>Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]</li>	<li>rs28933987</li><li>rs28933986</li>	2
P04075	226		<li>E->Q at 82: in dbSNP:rs11553107</li><li>D->G at 129: in aldolase A deficiency; thermolabile, MIM: 611881</li><li>G->V at 142: in dbSNP:rs11553108, MIM: 611881</li><li>E->K at 207: in aldolase A deficiency; reduces thermal stability; 3-fold decrease in catalytic efficiency mostly due to reduced substrate affinity, MIM: 611881</li><li>C->Y at 339: in aldolase A deficiency, MIM: 611881</li><li>G->S at 347: in aldolase A deficiency; does not affect thermal stability; 4-fold decrease in catalytic efficiency due to reduced enzyme activity, MIM: 611881</li>								Aldolase A deficiency [MIM:611881]	<li>rs11553108</li><li>rs11553107</li>	2
P04080	1476		<li>G->R at 4: in EPM1, MIM: 254800</li>								Progressive myoclonic epilepsy type 1 (EPM1) [MIM:254800]		2
P04090	6019		<li>V->F at 12: in dbSNP:rs2020050</li><li>M->K at 28: in dbSNP:rs618066</li><li>P->Q at 68: in dbSNP:rs2273783</li>									<li>rs2020050</li><li>rs2273783</li><li>rs618066</li>	2
P04118	1208		<li>L->P at 8: in dbSNP:rs2766597</li><li>R->C at 109: in dbSNP rsrs41270082</li>									<li>rs2766597</li><li>rs41270082</li>	2
P04141	1437		<li>T->I at 115: in dbSNP:rs2069640</li><li>I->T at 117: in dbSNP:rs25882</li>									<li>rs25882</li><li>rs2069640</li>	2
P04156	5621		<li>Missing at 56-63</li><li>P->L at 102: in GSD and early-onset dementia, MIM: 137440</li><li>P->L at 105: in GSD, MIM: 137440</li><li>A->V at 117: linked to development of dementing Gerstmann-Straussler disease, MIM: 137440</li><li>M->V at 129: polymorphism; determines the disease phenotype in patients who have a PrP mutation at position 178. Patients with M-129 develop FFI, those with V-129 develop CJD; dbSNP:rs1799990, MIM: 137440</li><li>G->V at 131: in GSD, MIM: 137440</li><li>N->S at 171: in schizoaffective disorder; dbSNP:rs16990018, MIM: 137440</li><li>D->N at 178: in FFI and CJD, MIM: 600072</li><li>V->I at 180: in CJD, MIM: 123400</li><li>T->A at 183: in familial spongiform encephalopathy, MIM: 123400</li><li>H->R at 187: in GSD, MIM: 137440</li><li>T->K at 188: in early-onset dementia; dementia associated to prion diseases, MIM: 137440</li><li>T->R at 188, MIM: 137440</li><li>E->K at 196: in CJD, MIM: 123400</li><li>F->S at 198: in GSD; atypical form with neurofibrillary tangles, MIM: 137440</li><li>E->K at 200: in CJD: in dbSNP rsrs28933385, MIM: 123400</li><li>D->N at 202: in GSD, MIM: 137440</li><li>V->I at 203: in CJD; it could be an extremely rare polymorphism, MIM: 123400</li><li>R->H at 208: in CJD, MIM: 123400</li><li>V->I at 210: in CJD, MIM: 123400</li><li>E->Q at 211: in CJD, MIM: 123400</li><li>Q->P at 212: in GSD, MIM: 137440</li><li>Q->R at 217: in GSD; with neurofibrillary tangles, MIM: 137440</li><li>E->K at 219: in dbSNP:rs1800014, MIM: 137440</li><li>M->R at 232: in CJD, MIM: 123400</li><li>P->S at 238, MIM: 123400</li>	development	GO:0007275					<li>P67992</li><li>P67991</li><li>P67994</li><li>P67993</li><li>P40247</li><li>P67996</li><li>P40246</li><li>P67995</li><li>Q7JIY2</li><li>P40249</li><li>O46501</li><li>P40248</li><li>P67997</li><li>P40243</li><li>P23907</li><li>P40242</li><li>P40245</li><li>P40244</li><li>Q5UJI7</li><li>P51446</li><li>P47852</li><li>P61768</li><li>P61766</li><li>P61767</li><li>P40257</li><li>P40258</li><li>P61762</li><li>P61761</li><li>Q95211</li><li>P40255</li><li>P40256</li><li>P40251</li><li>P40252</li><li>Q60506</li><li>Q5UJH8</li><li>P52113</li><li>P52114</li><li>P67987</li><li>P67986</li><li>Q95270</li><li>Q95174</li><li>Q5UJH0</li><li>P13852</li><li>Q95176</li><li>P67989</li><li>P67988</li><li>Q7JIH3</li><li>Q5UAF1</li><li>Q7JK02</li><li>P67990</li><li>P04273</li><li>P04925</li><li>Q5UJG7</li><li>Q68G95</li><li>Q5UJG3</li><li>Q95M08</li><li>Q5UJG1</li><li>P79141</li><li>Q5XVM4</li><li>P10279</li><li>O18754</li><li>Q9Z0T3</li><li>Q60468</li><li>P51780</li><li>Q6EH52</li><li>P49927</li><li>P04156</li>	<li>Gerstmann-Straussler disease (GSD) [MIM:137440]</li><li>Fatal familial insomnia (FFI) [MIM:600072]</li><li>Creutzfeldt-Jakob disease (CJD) [MIM:123400]</li>	<li>rs1799990</li><li>rs16990018</li><li>rs28933385</li><li>rs1800014</li>	2
P04180	3931		<li>L->LLLPPAAPFWL at 17: in LCATD</li><li>N->I at 29: in LCATD, MIM: 245900</li><li>P->L at 34: in FED, MIM: 136120</li><li>P->Q at 34: in FED, MIM: 136120</li><li>T->M at 37: in LCATD, MIM: 245900</li><li>G->S at 54: in LCATD, MIM: 245900</li><li>G->R at 57: in LCATD, MIM: 245900</li><li>V->E at 70: in FED, MIM: 136120</li><li>G->R at 95: in a compound heterozygote carrying H-164; intermediate phenotype between LCATD and FED; reduction of activity, MIM: 136120</li><li>S->P at 115, MIM: 136120</li><li>A->T at 117: in LCATD; dbSNP:rs28940886, MIM: 245900</li><li>R->C at 123: in FED, MIM: 136120</li><li>T->I at 147: in FED, MIM: 136120</li><li>R->Q at 159: in FED, MIM: 136120</li><li>R->W at 159: in LCATD: in dbSNP rsrs28940887, MIM: 245900</li><li>R->C at 164: in LCATD, MIM: 245900</li><li>R->H at 164: in LCATD; also in a compound heterozygote carrying R-95 with intermediate phenotype between LCATD and FED; loss of activity, MIM: 245900</li><li>A->T at 165, MIM: 245900</li><li>R->W at 171: in LCATD, MIM: 245900</li><li>Y->N at 180: in LCATD, MIM: 245900</li><li>R->C at 182, MIM: 245900</li><li>S->N at 205: in LCATD, MIM: 245900</li><li>S->T at 232: in dbSNP:rs4986970, MIM: 245900</li><li>L->P at 233: in LCATD: in dbSNP rsrs28942087, MIM: 245900</li><li>K->N at 242: in LCATD, MIM: 245900</li><li>N->K at 252: in LCATD, MIM: 245900</li><li>R->H at 268: in LCATD, MIM: 245900</li><li>M->K at 276: in FED, MIM: 136120</li><li>T->A at 298: in FED and LCATD, MIM: 245900</li><li>T->I at 298: in LCATD, MIM: 245900</li><li>M->I at 317: in LCATD; partially defective enzyme, MIM: 245900</li><li>P->S at 331: in LCATD, MIM: 245900</li><li>V->M at 333: in LCATD, MIM: 245900</li><li>T->M at 345: in LCATD: in dbSNP rsrs28940888, MIM: 245900</li><li>T->M at 371: in FED, MIM: 136120</li><li>L->R at 396: in a patient with LCATD, MIM: 136120</li><li>F->V at 406: in LCATD, MIM: 245900</li>								<li>Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]</li><li>Fish-eye disease (FED) [MIM:136120]</li>	<li>rs28942087</li><li>rs4986970</li><li>rs28940888</li><li>rs28940886</li><li>rs28940887</li>	2
P04181	4942		<li>N->K at 54: in HOGA, MIM: 258870</li><li>Y->H at 55: in HOGA, MIM: 258870</li><li>N->K at 89: in HOGA, MIM: 258870</li><li>Q->E at 90: in HOGA; mistargeted, accumulates in cytoplasm, MIM: 258870</li><li>C->F at 93: in HOGA, MIM: 258870</li><li>R->L at 154: in HOGA; complete loss of activity, MIM: 258870</li><li>R->T at 180: in HOGA; complete loss of activity, MIM: 258870</li><li>Missing  at 184: in HOGA, MIM: 258870</li><li>A->V at 226: in HOGA, MIM: 258870</li><li>P->L at 241: in HOGA, MIM: 258870</li><li>Y->C at 245: in HOGA, MIM: 258870</li><li>R->P at 250: in HOGA, MIM: 258870</li><li>T->I at 267: in HOGA, MIM: 258870</li><li>A->P at 270: in HOGA, MIM: 258870</li><li>R->K at 271: in HOGA, MIM: 258870</li><li>H->Y at 319: in HOGA, MIM: 258870</li><li>V->M at 332: in HOGA, MIM: 258870</li><li>G->D at 353: in HOGA, MIM: 258870</li><li>G->A at 375: in HOGA, MIM: 258870</li><li>C->R at 394: in HOGA, MIM: 258870</li><li>L->P at 402: in HOGA, MIM: 258870</li><li>P->L at 417: in HOGA, MIM: 258870</li><li>L->F at 437: in dbSNP:rs1800456, MIM: 258870</li>					cytoplasm	GO:0005737		Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	rs1800456	2
P04196	3273		<li>S->L at 79: in dbSNP:rs4516605</li><li>D->G at 118: in dbSNP:rs3733008</li><li>I->T at 180: in dbSNP:rs10770</li><li>P->S at 204: in dbSNP:rs9898</li><li>H->R at 340: in dbSNP:rs2228243</li><li>G->R at 436: in dbSNP:rs2229331</li><li>R->C at 448: in dbSNP:rs1042445</li><li>N->I at 493: in dbSNP:rs1042464</li>									<li>rs2229331</li><li>rs4516605</li><li>rs1042445</li><li>rs10770</li><li>rs9898</li><li>rs1042464</li><li>rs2228243</li><li>rs3733008</li>	2
P04198	4613		<li>R->H at 393: in Feingold syndrome, MIM: 164280</li><li>R->S at 393: in Feingold syndrome, MIM: 164280</li><li>R->H at 394: in Feingold syndrome, MIM: 164280</li>								Feingold syndrome [MIM:164280]		2
P04217			<li>R->H at 52: in dbSNP:rs893184</li><li>H->R at 395: in dbSNP:rs2241788</li>									<li>rs2241788</li><li>rs893184</li>	2
P04222			<li>K->N at 90: in allele Cw*0308</li><li>S->N at 101: in allele Cw*0307</li><li>N->K at 104: in allele Cw*0307</li><li>G->R at 115: in allele Cw*0303 and allele Cw*0313</li><li>I->T at 118: in allele Cw*0305 and allele Cw*0313</li><li>I->L at 119: in allele Cw*0302, allele Cw*0305 and allele Cw*0313</li><li>R->S at 121: in allele Cw*0305</li><li>V->L at 127: in allele Cw*0309</li><li>D->V at 138: in allele Cw*0306</li><li>Y->S at 140: in allele Cw*0302</li>										2
P04226	731682		<li>S->F at 41: in dbSNP:rs1071630</li><li>F->Y at 48: in dbSNP:rs12722051</li><li>T->S at 49: in dbSNP:rs3188011</li><li>E->Q at 57: in dbSNP:rs10093</li><li>S->Y at 102: in dbSNP:rs1129808</li>									<li>rs12722051</li><li>rs1071630</li><li>rs1129808</li><li>rs10093</li><li>rs3188011</li>	2
P04229			<li>T->A at 13: in dbSNP:rs1059553</li><li>A->S at 29: in dbSNP:rs9270299</li><li>R->K at 33: in dbSNP:rs34716432</li><li>R->Q at 33: in dbSNP:rs34716432</li><li>Q->E at 39: in allele DRB1*0107</li><li>S->Y at 66: in dbSNP:rs16822820</li><li>G->R at 74: in allele DRB1*0105</li><li>Y->F at 76: in dbSNP:rs1060346</li><li>Y->S at 89: in dbSNP:rs36074728</li><li>L->I at 96: in allele DRB1*0103</li><li>Q->D at 99: in allele DRB1*0103; requires 2 nucleotide substitutions</li><li>Q->E at 99: in dbSNP:rs34202790</li><li>Q->H at 99: in dbSNP:rs17879599</li><li>R->A at 100: in allele DRB1*0106; requires 2 nucleotide substitutions</li><li>R->E at 100: in allele DRB1*0103; requires 2 nucleotide substitutions</li><li>A->G at 102: in dbSNP:rs17878857</li><li>A->E at 103: in dbSNP:rs16822805</li><li>T->N at 106: in allele DRB1*0104; dbSNP:rs16822752</li><li>Y->H at 107: in dbSNP:rs16822512</li><li>V->A at 114: in allele DRB1*0102; dbSNP:rs17424145</li><li>G->V at 115: in allele DRB1*0102, allele DRB1*0104 and allele DRB1*0106; dbSNP:rs34610432</li><li>G->D at 164: in dbSNP:rs1059633</li><li>A->T at 169: in dbSNP:rs2308768</li><li>V->M at 171: in dbSNP:rs701829</li><li>Q->H at 178: in dbSNP:rs701830</li><li>R->Q at 195: in dbSNP:rs3205588</li><li>T->I at 210: in dbSNP:rs17423930</li><li>V->M at 236: in dbSNP:rs2230816</li><li>Q->E at 253: in allele DRB1*0102</li>							Q8IUH3		<li>rs16822820</li><li>rs1060346</li><li>rs16822805</li><li>rs9270299</li><li>rs1059633</li><li>rs1059553</li><li>rs701830</li><li>rs34202790</li><li>rs36074728</li><li>rs2230816</li><li>rs17423930</li><li>rs34716432</li><li>rs2308768</li><li>rs701829</li><li>rs3205588</li><li>rs17879599</li><li>rs16822512</li><li>rs17878857</li>	2
P04234	915		<li>Q->R at 147: in dbSNP:rs45510201</li>									rs45510201	2
P04259	3854		<li>N->S at 21: in dbSNP:rs428894</li><li>S->N at 227: in dbSNP:rs652423</li><li>V->I at 365: in dbSNP:rs437014</li><li>E->K at 472: in PC2: in dbSNP rsrs60627726, MIM: 167210</li>							<li>P21661</li><li>Q03333</li><li>P28841</li><li>P16519</li><li>Q9GLR0</li><li>Q5REC2</li>	Pachyonychia congenita type 2 (PC2) [MIM:167210]	<li>rs60627726</li><li>rs652423</li><li>rs428894</li><li>rs437014</li>	2
P04264	3848		<li>K->I at 74: in NEPPK: in dbSNP rsrs57977969, MIM: 600962</li><li>V->D at 155: in BCIE, MIM: 113800</li><li>V->G at 155: in BCIE: in dbSNP rsrs57959072, MIM: 113800</li><li>L->P at 161: in BCIE: in dbSNP rsrs57695159, MIM: 113800</li><li>Missing  at 176-197: in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas, MIM: 113800</li><li>S->P at 186: in BCIE: in dbSNP rsrs60022878, MIM: 113800</li><li>N->K at 188: in BCIE: in dbSNP rsrs59429455, MIM: 113800</li><li>N->S at 188: in BCIE: in dbSNP rsrs58928370, MIM: 113800</li><li>N->T at 188: in BCIE; severe, MIM: 113800</li><li>S->P at 193: in BCIE: in dbSNP rsrs60937700, MIM: 113800</li><li>L->P at 214: in BCIE: in dbSNP rsrs61549035, MIM: 113800</li><li>I->V at 312, MIM: 113800</li><li>I->T at 330, MIM: 113800</li><li>D->V at 340: in BCIE: in dbSNP rsrs58062863, MIM: 113800</li><li>N->Y at 358: in dbSNP:rs1050872, MIM: 113800</li><li>A->S at 454: in dbSNP:rs17678945, MIM: 113800</li><li>Missing  at 459-466: in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas, MIM: 113800</li><li>I->F at 479: in AEI: in dbSNP rsrs61218439, MIM: 607602</li><li>I->T at 479: in AEI and BCIE: in dbSNP rsrs57837128, MIM: 607602</li><li>Y->C at 482: in BCIE: in dbSNP rsrs58420087, MIM: 113800</li><li>L->P at 486: in BCIE: in dbSNP rsrs56914602, MIM: 113800</li><li>E->Q at 490: in BCIE: in dbSNP rsrs60279707, MIM: 113800</li><li>G->C at 537, MIM: 113800</li><li>Missing  at 560-566: in allele 1B, MIM: 113800</li><li>R->K at 633: in dbSNP:rs14024, MIM: 113800</li>							P08478	<li>Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]</li><li>Ichthyosis annular epidermolytic (AEI) [MIM:607602]</li><li>Palmoplantar keratoderma non-epidermolytic (NEPPK) [MIM:600962]</li>	<li>rs1050872</li><li>rs61549035</li><li>rs61218439</li><li>rs60022878</li><li>rs60279707</li><li>rs57959072</li><li>rs60937700</li><li>rs17678945</li><li>rs56914602</li><li>rs59429455</li><li>rs57837128</li><li>rs58420087</li><li>rs58062863</li><li>rs57977969</li><li>rs57695159</li><li>rs14024</li><li>rs58928370</li>	2
P04275	7450		<li>R->W at 273: in VWD; type I/III; defect in secretion and formation of multimers, MIM: 193400</li><li>W->C at 377: in VWD; type III, MIM: 193400</li><li>H->R at 484: in dbSNP:rs1800378, MIM: 193400</li><li>N->S at 528: in VWD; type IIC, MIM: 193400</li><li>G->R at 550: in VWD; type IIC: in dbSNP rsrs61754011, MIM: 193400</li><li>C->Y at 788: in VWD; type II, MIM: 193400</li><li>T->A at 789: in dbSNP:rs1063856, MIM: 193400</li><li>T->M at 791: in Normandy-1, MIM: 193400</li><li>R->W at 816: in Normandy-2, MIM: 193400</li><li>R->Q at 852: in dbSNP:rs216321, MIM: 193400</li><li>R->Q at 854: in Normandy-3: in dbSNP rsrs41276738, MIM: 193400</li><li>N->D at 857, MIM: 193400</li><li>C->R at 1060: in VWD; type IIN, MIM: 193400</li><li>P->L at 1266: in VWD; type I, MIM: 193400</li><li>H->D at 1268: in VWD; type IIB, MIM: 193400</li><li>C->R at 1272: in VWD; type IIA, MIM: 193400</li><li>R->W at 1306: in VWD; type IIB, MIM: 193400</li><li>R->C at 1308: in VWD; type IIB, MIM: 193400</li><li>W->C at 1313: in VWD; type IIB, MIM: 193400</li><li>V->L at 1314: in VWD; type IIB, MIM: 193400</li><li>V->M at 1316: in VWD; type IIB, MIM: 193400</li><li>V->L at 1318: in VWD; type IIB, MIM: 193400</li><li>G->S at 1324: in VWD; type IIB, MIM: 193400</li><li>R->Q at 1341: in VWD; type IIB, MIM: 193400</li><li>R->C at 1374: in VWD, MIM: 193400</li><li>R->H at 1374: in VWD, MIM: 193400</li><li>A->T at 1381: in dbSNP:rs216311, MIM: 193400</li><li>R->H at 1399: in dbSNP:rs216312, MIM: 193400</li><li>L->V at 1460: in VWD; type IIB, MIM: 193400</li><li>A->V at 1461: in VWD; type IIB, MIM: 193400</li><li>H->D at 1472: in dbSNP:rs1800383, MIM: 193400</li><li>F->C at 1514: in VWD; type IIA, MIM: 193400</li><li>L->P at 1540: in VWD; type IIA, MIM: 193400</li><li>V->L at 1565: in dbSNP:rs1800385, MIM: 193400</li><li>Y->C at 1570: in a breast cancer sample; somatic mutation, MIM: 193400</li><li>Y->C at 1584: in dbSNP:rs1800386, MIM: 193400</li><li>R->G at 1597: in VWD; type IIA, MIM: 193400</li><li>R->Q at 1597: in VWD; type IIA, MIM: 193400</li><li>R->W at 1597: in VWD; type IIA, MIM: 193400</li><li>V->D at 1607: in VWD; type IIA, MIM: 193400</li><li>G->R at 1609: in VWD; type IIA, MIM: 193400</li><li>S->P at 1613: in VWD; type IIA, MIM: 193400</li><li>I->T at 1628: in VWD; type IIA, MIM: 193400</li><li>E->K at 1638: in VWD; type IIA, MIM: 193400</li><li>P->S at 1648: in VWD; type IIA, MIM: 193400</li><li>V->E at 1665: in VWD; type IIA, MIM: 193400</li><li>P->S at 2063: in VWD; type III, MIM: 193400</li><li>C->F at 2362: in VWD; type III, MIM: 193400</li><li>N->Y at 2546: in VWD; type III, MIM: 193400</li><li>C->Y at 2739: in VWD; type III, MIM: 193400</li><li>C->R at 2773: in VWD; type IID, MIM: 193400</li>	secretion	GO:0046903						Various forms of von Willebrand disease (VWD) [MIM:193400, 277480]	<li>rs1800378</li><li>rs1800386</li><li>rs1800385</li><li>rs216311</li><li>rs216312</li><li>rs216321</li><li>rs61754011</li><li>rs1800383</li><li>rs41276738</li><li>rs1063856</li>	2
P04278	6462		<li>R->H at 22: in dbSNP:rs9282845</li><li>R->H at 25: in dbSNP:rs6260</li><li>P->L at 185: in dbSNP:rs6258</li><li>D->N at 356: in dbSNP:rs6259</li>									<li>rs6259</li><li>rs6258</li><li>rs9282845</li><li>rs6260</li>	2
P04279	6406		<li>E->G at 58: in dbSNP:rs11559137</li><li>S->T at 79: less common genetic variant; dbSNP:rs2301366</li><li>H->R at 108: in dbSNP:rs2233884</li><li>R->L at 372: in dbSNP:rs2233887</li>									<li>rs2233887</li><li>rs11559137</li><li>rs2233884</li><li>rs2301366</li>	2
P04280	5542		<li>Missing  at 93-153: in allele M</li><li>Missing  at 106-319: in clone CP-5</li><li>Missing  at 106-299: in clone CP-4</li><li>Missing  at 134-255: in allele S</li>							P81350			2
P04350	10382		<li>I->M at 155: in dbSNP:rs1053262</li><li>A->V at 365: in dbSNP:rs1053267</li>									<li>rs1053262</li><li>rs1053267</li>	2
P04406	2597		<li>A->G at 22: in dbSNP rsrs45541435</li><li>K->N at 251: in dbSNP:rs1062429</li>									<li>rs1062429</li><li>rs45541435</li>	2
P04439	3105		<li>R->G at 89: in dbSNP:rs1059459</li><li>Q->H at 94: in dbSNP:rs1059463</li><li>D->N at 101: in dbSNP:rs1136688</li><li>I->M at 121: in dbSNP:rs1136695</li><li>S->P at 129: in dbSNP:rs1136700</li><li>G->W at 131: in dbSNP:rs1136702</li><li>F->L at 133: in dbSNP:rs1059488</li><li>N->K at 151: in dbSNP:rs1059509</li><li>I->T at 166: in dbSNP:rs1059516</li><li>R->H at 169: in dbSNP:rs1059520</li><li>E->V at 176: in allele A*0302: in dbSNP rsrs9256983</li><li>L->Q at 180: in allele A*0302</li><li>D->E at 185: in allele A*0305; dbSNP:rs1059542</li><li>G->A at 186: in allele A*03011: in dbSNP rsrs41545519</li><li>G->R at 199: in allele A*0304: in dbSNP rsrs41559916</li><li>R->H at 205: in dbSNP:rs17185861</li>									<li>rs1059520</li><li>rs1059542</li><li>rs1059488</li><li>rs1059459</li><li>rs1136688</li><li>rs1136695</li><li>rs9256983</li><li>rs1059463</li><li>rs1059509</li><li>rs17185861</li><li>rs1136700</li><li>rs1059516</li><li>rs41559916</li><li>rs1136702</li><li>rs41545519</li>	2
P04440	3115		<li>L->V at 37: in dbSNP:rs1126504</li><li>F->Y at 38: in dbSNP:rs1126509</li><li>G->V at 40: in dbSNP:rs1126513</li><li>E->Q at 62: in dbSNP:rs12722018</li><li>F->Y at 64: in dbSNP:rs1042117</li><li>A->V at 65: in dbSNP:rs1042121</li><li>A->D at 84: in dbSNP:rs707958</li><li>A->E at 85: in dbSNP:rs1042131</li><li>E->D at 86: in dbSNP:rs1042133</li><li>K->E at 98: in dbSNP:rs1042140</li><li>K->R at 98: in dbSNP:rs12722027</li><li>M->I at 105: in dbSNP:rs1042153</li><li>M->V at 105: in dbSNP:rs1042151</li><li>G->E at 114: in dbSNP:rs9277354</li><li>P->A at 115: in dbSNP:rs9277355</li><li>M->V at 116: in dbSNP:rs9277356</li><li>L->M at 207: in dbSNP:rs14362</li><li>R->Q at 223: in dbSNP:rs9276</li><li>V->M at 234: in dbSNP:rs11551421</li><li>I->T at 244: in dbSNP:rs3097675</li>									<li>rs11551421</li><li>rs9276</li><li>rs1042121</li><li>rs1042131</li><li>rs1042151</li><li>rs1042133</li><li>rs1042140</li><li>rs3097675</li><li>rs1042117</li><li>rs12722018</li><li>rs12722027</li><li>rs1126509</li><li>rs9277354</li><li>rs14362</li><li>rs9277355</li><li>rs9277356</li><li>rs707958</li><li>rs1126504</li><li>rs1126513</li><li>rs1042153</li>	2
P04626	2064		<li>W->C at 452: in dbSNP rsrs4252633</li><li>I->V at 654: in allele B3; dbSNP:rs1801201</li><li>I->V at 655: in allele B2 and allele B3; dbSNP:rs1136201</li><li>L->S at 768: in dbSNP rsrs56366519</li><li>G->S at 776: in a gastric adenocarcinoma sample; somatic mutation: in dbSNP rsrs28933369</li><li>N->S at 857: in dbSNP:rs28933370</li><li>P->A at 1170: in dbSNP rsrs1058808,rs61552325</li><li>A->D at 1216: in dbSNP rsrs55943169</li>									<li>rs1801201</li><li>rs28933369</li><li>rs1058808</li><li>rs4252633</li><li>rs61552325</li><li>rs1136201</li><li>rs55943169</li><li>rs28933370</li><li>rs56366519</li>	2
P04632	826		<li>M->V at 224: in dbSNP:rs17878750</li>									rs17878750	2
P04792	3315		<li>R->W at 127: in HMN2B: in dbSNP rsrs29001571, MIM: 608634</li><li>S->F at 135: in CMT2F and HMN2B, MIM: 608634</li><li>R->W at 136: in CMT2F, MIM: 606595</li><li>T->I at 151: in HMN2B: in dbSNP rsrs28937568, MIM: 608634</li><li>P->L at 182: in HMN2B: in dbSNP rsrs28937569, MIM: 608634</li>								<li>Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]</li><li>Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]</li>	<li>rs28937568</li><li>rs28937569</li><li>rs29001571</li>	2
P04798	1543		<li>G->D at 45: in dbSNP:rs4646422</li><li>M->V at 66: in dbSNP:rs35035798</li><li>I->T at 78: in dbSNP:rs17861094</li><li>R->W at 93: in dbSNP:rs2229150</li><li>T->R at 173: in dbSNP:rs28399427</li><li>R->W at 279: in dbSNP:rs34260157</li><li>I->T at 286: in dbSNP:rs4987133</li><li>M->I at 331: in allele CYP1A1*6: in dbSNP rsrs56313657</li><li>I->N at 448: in allele CYP1A1*8</li><li>T->N at 461: in allele CYP1A1*4; dbSNP:rs1799814</li><li>I->V at 462: in allele CYP1A1*2B and allele CYP1A1*2C; dbSNP:rs1048943</li><li>R->C at 464: in allele CYP1A1*9</li><li>R->S at 464: in allele CYP1A1*5: in dbSNP rsrs41279188</li><li>F->V at 470: in dbSNP:rs36121583</li><li>R->W at 477: in allele CYP1A1*10: in dbSNP rsrs56240201</li><li>V->M at 482: in dbSNP rsrs28399429</li><li>P->R at 492: in allele CYP1A1*11: in dbSNP rsrs28399430</li>							<li>P04798</li><li>P98181</li><li>Q92039</li><li>Q92095</li><li>Q9YH64</li><li>Q3LFU0</li><li>Q5KQT7</li><li>P56591</li><li>Q92110</li><li>P56590</li><li>O42457</li><li>O42430</li><li>Q00557</li><li>Q92116</li><li>Q92148</li><li>Q06367</li><li>Q92109</li><li>P33616</li><li>O42231</li><li>Q6JZS3</li><li>P79716</li><li>P05176</li><li>Q92100</li><li>P00185</li><li>Q9W683</li><li>Q6GUR1</li>		<li>rs56240201</li><li>rs1048943</li><li>rs4646422</li><li>rs36121583</li><li>rs28399427</li><li>rs4987133</li><li>rs28399429</li><li>rs2229150</li><li>rs34260157</li><li>rs41279188</li><li>rs1799814</li><li>rs28399430</li><li>rs17861094</li><li>rs56313657</li><li>rs35035798</li>	2
P04808	6013		<li>K->M at 28: in dbSNP:rs618066</li>									rs618066	2
P04839	1536		<li>W->C at 18: in XCGD, MIM: 306400</li><li>G->R at 20: in XCGD, MIM: 306400</li><li>Y->D at 41: in XCGD, MIM: 306400</li><li>Missing  at 54-55: in XCGD, MIM: 306400</li><li>R->M at 54: in XCGD, MIM: 306400</li><li>R->S at 54: in XCGD, MIM: 306400</li><li>A->D at 55: in XCGD, MIM: 306400</li><li>A->E at 57: in XCGD, MIM: 306400</li><li>C->R at 59: in XCGD, MIM: 306400</li><li>C->W at 59: in XCGD, MIM: 306400</li><li>H->R at 101: in XCGD, MIM: 306400</li><li>H->Y at 101: in XCGD, MIM: 306400</li><li>H->R at 119: in XCGD, MIM: 306400</li><li>A->T at 156: in XCGD, MIM: 306400</li><li>G->R at 179: in XCGD, MIM: 306400</li><li>S->F at 193: in XCGD, MIM: 306400</li><li>F->I at 205: in XCGD, MIM: 306400</li><li>H->Q at 209: in XCGD, MIM: 306400</li><li>H->R at 209: in XCGD, MIM: 306400</li><li>H->Y at 209: in XCGD, MIM: 306400</li><li>Missing  at 215: in XCGD, MIM: 306400</li><li>H->N at 222: in XCGD, MIM: 306400</li><li>H->R at 222: in XCGD, MIM: 306400</li><li>H->Y at 222: in XCGD, MIM: 306400</li><li>G->L at 223: in XCGD; requires 2 nucleotide substitutions, MIM: 306400</li><li>A->G at 224: in XCGD, MIM: 306400</li><li>E->V at 225: in XCGD, MIM: 306400</li><li>C->R at 244: in XCGD, MIM: 306400</li><li>C->S at 244: in XCGD, MIM: 306400</li><li>C->Y at 244: in XCGD, MIM: 306400</li><li>Missing  at 298-302: in XCGD, MIM: 306400</li><li>H->N at 303: in XCGD; completely inhibits NADPH oxidase activity; NADPH oxidase assembly is abolished: in dbSNP rsrs28935182, MIM: 306400</li><li>P->R at 304: in XCGD; reduces NADPH oxidase activity to 4% of wild-type; translocation to the membrane of the phagosome is only attenuated, MIM: 306400</li><li>T->P at 307: in XCGD, MIM: 306400</li><li>E->K at 309: in XCGD, MIM: 306400</li><li>Missing  at 315: in XCGD, MIM: 306400</li><li>G->E at 322: in XCGD, MIM: 306400</li><li>I->F at 325: in XCGD, MIM: 306400</li><li>S->P at 333: in XCGD, MIM: 306400</li><li>H->Y at 338: in XCGD, MIM: 306400</li><li>P->H at 339: in XCGD, MIM: 306400</li><li>L->Q at 342: in XCGD, MIM: 306400</li><li>S->F at 344: in XCGD, MIM: 306400</li><li>R->P at 356: in XCGD, MIM: 306400</li><li>G->R at 364, MIM: 306400</li><li>G->A at 389: in XCGD, MIM: 306400</li><li>G->E at 389: in XCGD, MIM: 306400</li><li>M->R at 405: in XCGD, MIM: 306400</li><li>G->E at 408: in XCGD, MIM: 306400</li><li>G->R at 408: in XCGD, MIM: 306400</li><li>P->H at 415: in XCGD, MIM: 306400</li><li>P->L at 415: in XCGD, MIM: 306400</li><li>L->P at 420: in XCGD, MIM: 306400</li><li>S->P at 422: in XCGD, MIM: 306400</li><li>W->R at 453: in XCGD, MIM: 306400</li><li>G->S at 472: in dbSNP:rs13306300, MIM: 306400</li><li>D->G at 500: in XCGD: in dbSNP rsrs28935181, MIM: 306400</li><li>L->R at 505: in XCGD, MIM: 306400</li><li>W->C at 516: in XCGD, MIM: 306400</li><li>W->R at 516: in XCGD, MIM: 306400</li><li>D->E at 517, MIM: 306400</li><li>V->D at 534: in XCGD, MIM: 306400</li><li>C->R at 537: in XCGD, MIM: 306400</li><li>L->P at 546: in XCGD, MIM: 306400</li>					<li>phagosome</li><li>membrane</li>	<li>GO:0045335</li><li>GO:0016020</li>		Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	<li>rs13306300</li><li>rs28935181</li><li>rs28935182</li>	2
P04844	6185		<li>L->F at 597: in dbSNP:rs34951322</li>									rs34951322	2
P04920	6522		<li>G->E at 26: in dbSNP:rs2303929</li><li>E->V at 202: in dbSNP rsrs2229551</li><li>S->T at 208: in dbSNP:rs2229552</li><li>R->W at 311: in dbSNP:rs35016052</li><li>L->F at 1204: in dbSNP rsrs34918764</li>									<li>rs34918764</li><li>rs35016052</li><li>rs2229552</li><li>rs2229551</li><li>rs2303929</li>	2
P04921	2995		<li>N->S at 8: in Webb </li><li>L->F at 14: in Duch </li><li>A->S at 23: in Ahonen </li><li>K->E at 124: in dbSNP:rs28370000</li>									rs28370000	2
P05000	3467		<li>R->S at 95: in dbSNP:rs2230055</li>									rs2230055	2
P05014	3441		<li>H->P at 49: in dbSNP:rs3203573</li><li>A->T at 74: in alpha-4B; dbSNP:rs1062571</li><li>E->V at 137: in alpha-4B; dbSNP:rs3750480</li>									<li>rs3203573</li><li>rs1062571</li>	2
P05019	3479		<li>A->D at 187: in dbSNP:rs6213</li>									rs6213	2
P05023	476		<li>S->I at 47: in dbSNP:rs12564026</li>									rs12564026	2
P05060	1114		<li>S->T at 93: in dbSNP:rs6085324</li><li>K->N at 117: in dbSNP:rs236150</li><li>D->N at 145: in dbSNP:rs6133278</li><li>R->Q at 178: in dbSNP:rs910122</li><li>N->H at 200: in dbSNP:rs881118</li><li>R->Q at 232: in dbSNP:rs6139873</li><li>A->T at 243: in dbSNP:rs236151</li><li>A->G at 353: in dbSNP:rs236152</li><li>P->L at 413: in dbSNP:rs742710</li><li>R->H at 417: in dbSNP:rs742711</li>									<li>rs236151</li><li>rs6133278</li><li>rs236150</li><li>rs236152</li><li>rs910122</li><li>rs742710</li><li>rs742711</li><li>rs6085324</li><li>rs6139873</li><li>rs881118</li>	2
P05062	229		<li>I->T at 74: in HFI; affects proper folding, MIM: 229600</li><li>Missing  at 120-121: in HFI, MIM: 229600</li><li>R->S at 134: in dbSNP:rs10123355, MIM: 229600</li><li>C->R at 135: in HFI; America; partial activity, MIM: 229600</li><li>W->R at 148: in one subject with fructose intolerance; rare variant; America, MIM: 229600</li><li>A->P at 150: in HFI; frequent mutation; dbSNP:rs1800546, MIM: 229600</li><li>A->D at 175: in HFI; frequent mutation, MIM: 229600</li><li>P->R at 185: in HFI, MIM: 229600</li><li>E->Q at 207: in dbSNP:rs3739721, MIM: 229600</li><li>V->F at 222: in HFI; affects proper folding, MIM: 229600</li><li>L->P at 229: in HFI; affects proper folding, MIM: 229600</li><li>L->P at 257: in HFI; Italy, MIM: 229600</li><li>I->N at 268: in dbSNP:rs10989495, MIM: 229600</li><li>R->Q at 304: in HFI; 100-fold decrease in catalytic efficiency for substrates FBP and F1P, MIM: 229600</li><li>R->W at 304: in HFI; Turkey; 4800-fold decrease in catalytic efficiency for FBP and inactive with F1P, MIM: 229600</li><li>N->K at 335: in HFI; frequent mutation, MIM: 229600</li><li>A->V at 338: in HFI; Turkey and South Europe, MIM: 229600</li>							<li>P09467</li><li>P14207</li><li>P15328</li><li>Q66FB5</li><li>P25851</li><li>Q96AE4</li><li>P0A0Y4</li><li>P09199</li><li>Q91WJ8</li><li>P0A0Y3</li><li>P09195</li><li>P00637</li><li>P00636</li><li>Q42796</li><li>Q07204</li><li>Q56928</li><li>P46275</li><li>P02702</li><li>Q7MYU0</li><li>P0A6X4</li><li>P0A1R0</li><li>P0A6X3</li><li>P0A1R1</li><li>Q8ZIW2</li><li>P0A6X6</li><li>P0A6X5</li><li>P17259</li>	Hereditary fructose intolerance (HFI) [MIM:229600]	<li>rs1800546</li><li>rs10989495</li><li>rs3739721</li><li>rs10123355</li>	2
P05089	383		<li>I->T at 11: in argininemia; 12% of wild-type activity: in dbSNP rsrs28941474, MIM: 207800</li><li>G->V at 138: in argininemia, MIM: 207800</li><li>G->R at 235: in argininemia, MIM: 207800</li><li>T->S at 290: could be a polymorphism, MIM: 207800</li>								Argininemia [MIM:207800]	rs28941474	2
P05090	347		<li>F->S at 15: in dbSNP:rs5952</li><li>S->L at 115: in dbSNP:rs5954</li><li>T->K at 178: in dbSNP:rs5955</li>									<li>rs5954</li><li>rs5955</li><li>rs5952</li>	2
P05091	217		<li>E->V at 337: in dbSNP:rs1062136</li><li>E->K at 496: in allele ALDH2*3</li><li>E->K at 504: in allele ALDH2*2; drastic reduction of enzyme activity; dbSNP:rs671</li>							<li>P46367</li><li>P12762</li><li>P81178</li><li>Q25417</li><li>P20000</li><li>Q9SU63</li><li>P32872</li><li>P05091</li>		<li>rs671</li><li>rs1062136</li>	2
P05093	1586		<li>C->W at 22: in dbSNP:rs762563</li><li>P->L at 35: in AH5; 38% 17alpha-hydroxylase activity and 33% 17,20-lyase activity, MIM: 202110</li><li>Missing  at 53: in AH5; 10% 17alpha-hydroxylase activity and 13% 17,20-lyase activity, MIM: 202110</li><li>Y->S at 64: in AH5, MIM: 202110</li><li>F->C at 93: in AH5, MIM: 202110</li><li>R->W at 96: in AH5; 25% of both 17alpha-hydroxylase and 17,20-lyase activities, MIM: 202110</li><li>S->P at 106: in AH5, MIM: 202110</li><li>I->II at 112: in AH5, MIM: 202110</li><li>F->V at 114: in AH5, MIM: 202110</li><li>D->V at 116: in AH5, MIM: 202110</li><li>N->D at 177: in AH5; 10% 17alpha-hydroxylase and 17,20-lyase activities, MIM: 202110</li><li>Y->D at 329: in AH5, MIM: 202110</li><li>Missing  at 330: in AH5; complete loss of both 17alpha-hydroxylase and 17,20-lyase activities, MIM: 202110</li><li>P->T at 342: in AH5, MIM: 202110</li><li>R->C at 347: in AH5, MIM: 202110</li><li>R->H at 347: in AH5; selectively ablates 17,20-lyase activity, while preserving most 17alpha-hydroxylase activity, MIM: 202110</li><li>R->Q at 358: in AH5; selectively ablates 17,20-lyase activity, while preserving most 17alpha-hydroxylase activity, MIM: 202110</li><li>R->C at 362: in AH5, MIM: 202110</li><li>H->L at 373: in AH5, MIM: 202110</li><li>W->R at 406: in AH5, MIM: 202110</li><li>F->C at 417: in AH5; ablates both 17,20-lyase activity and 17alpha-hydroxylase activity; loss of heme-binding and loss of phosphorylation, MIM: 202110</li><li>P->L at 428: in AH5, MIM: 202110</li><li>R->H at 440: in AH5, MIM: 202110</li><li>Missing  at 487-489: in AH5, MIM: 202110</li><li>R->C at 496: in AH5, MIM: 202110</li><li>R->H at 496: in AH5; 30% 17alpha-hydroxylase activity and 29% 17,20-lyase activity, MIM: 202110</li>	phosphorylation	GO:0016310	<li>lyase activity</li><li>heme-binding</li>	<li>GO:0016829</li><li>GO:0020037</li>				Adrenal hyperplasia type 5 (AH5) [MIM:202110]	rs762563	2
P05106	3690		<li>L->P at 59: in alloantigen HPA-1B; dbSNP:rs5918</li><li>L->R at 66: in dbSNP:rs36080296</li><li>R->W at 119: in GT, MIM: 273800</li><li>Y->C at 141: in GT, MIM: 273800</li><li>L->W at 143: in GT, MIM: 273800</li><li>D->N at 145: in GT, MIM: 273800</li><li>D->Y at 145: in GT; type B, MIM: 273800</li><li>M->V at 150: in GT; may confer constitutive activity to the alpha-IIb/, MIM: 273800</li><li>T->I at 166: associated with neonatal thrombocytopenia; alloantigen Duv, MIM: 273800</li><li>R->Q at 169: in alloantigen HPA-4B; dbSNP:rs5917, MIM: 273800</li><li>S->L at 188: in GT; type II, MIM: 273800</li><li>L->P at 222: in GT; variant form, MIM: 273800</li><li>R->Q at 240: in GT; type B, MIM: 273800</li><li>R->W at 240: in GT; variant Strasbourg-1, MIM: 273800</li><li>R->Q at 242: in GT, MIM: 273800</li><li>D->V at 243: in GT, MIM: 273800</li><li>L->P at 288: in GT, MIM: 273800</li><li>H->P at 306: in GT; dbSNP:rs13306476, MIM: 273800</li><li>M->L at 321: in GT, MIM: 273800</li><li>I->N at 330: in GT; not expressed on the surface and absent inside the transfected cells, MIM: 273800</li><li>C->Y at 400: in GT, MIM: 273800</li><li>P->A at 433: in alloantigen MO, MIM: 273800</li><li>V->I at 453: in dbSNP:rs5921, MIM: 273800</li><li>R->Q at 515: in alloantigen CA: in dbSNP rsrs13306487, MIM: 273800</li><li>C->Y at 532: in GT, MIM: 273800</li><li>C->R at 568: in GT; type I, MIM: 273800</li><li>C->F at 586: in GT, MIM: 273800</li><li>C->R at 586: in GT; gain-of-function mutation; constitutively binds ligand-induced binding sites antibodies and the fibrinogen-mimetic antibody PAC-1, MIM: 273800</li><li>G->S at 598: in GT, MIM: 273800</li><li>C->R at 601: in GT, MIM: 273800</li><li>G->S at 605: in GT; type II, MIM: 273800</li><li>R->C at 662: in alloantigen SR, MIM: 273800</li><li>S->P at 778: in GT; variant Strasbourg-1, MIM: 273800</li>			binding	GO:0005488			<li>P02854</li><li>O82030</li><li>Q9FEW2</li><li>P22775</li><li>P81070</li><li>Q9Y251</li><li>Q90YK5</li>	Glanzmann thrombasthenia (GT) [MIM:273800]	<li>rs13306487</li><li>rs36080296</li><li>rs13306476</li><li>rs5921</li><li>rs5917</li><li>rs5918</li>	2
P05107	3689		<li>D->N at 128: in LAD1, MIM: 116920</li><li>S->P at 138: in LAD1, MIM: 116920</li><li>L->P at 149: in LAD1, MIM: 116920</li><li>G->R at 169: in LAD1, MIM: 116920</li><li>P->L at 178: in LAD1, MIM: 116920</li><li>K->T at 196: in LAD1, MIM: 116920</li><li>G->R at 273: in LAD1, MIM: 116920</li><li>G->S at 284: in LAD1, MIM: 116920</li><li>N->S at 351: in LAD1, MIM: 116920</li><li>Q->H at 354: in dbSNP:rs235330, MIM: 116920</li><li>R->W at 586: in LAD1; dbSNP:rs5030672, MIM: 116920</li><li>R->C at 593: in LAD1, MIM: 116920</li>							O00515	Leukocyte adhesion deficiency type I (LAD1) [MIM:116920]	<li>rs235330</li><li>rs5030672</li>	2
P05108	1583		<li>A->V at 189: in CAI; no loss of activity</li><li>D->DGD at 271: in CLAH; complete loss of activity</li><li>E->K at 314: in dbSNP:rs6161</li><li>R->W at 353: in CAI; loss of activity</li>							<li>P00917</li><li>P48282</li><li>P00916</li><li>P35217</li><li>P00915</li><li>Q1LZA1</li><li>Q7M316</li><li>P07452</li><li>Q8HY33</li><li>Q7M317</li><li>P13634</li>		rs6161	2
P05112	3565		<li>C->R at 27: in dbSNP:rs4986964</li>									rs4986964	2
P05120	5055		<li>N->D at 120: in dbSNP:rs6098</li><li>R->H at 229: in dbSNP:rs6100</li><li>G->A at 374: in dbSNP:rs34066931</li><li>N->K at 404: in dbSNP:rs6103</li><li>S->C at 413: in dbSNP:rs6104</li>									<li>rs6104</li><li>rs6098</li><li>rs6103</li><li>rs34066931</li><li>rs6100</li>	2
P05121	5054		<li>A->T at 15: in dbSNP:rs6092</li><li>V->I at 17: in dbSNP:rs6090</li><li>H->P at 25: in dbSNP:rs2227647</li><li>R->H at 209: in dbSNP:rs2227669</li><li>T->N at 255: in dbSNP:rs2227685</li>									<li>rs2227647</li><li>rs6090</li><li>rs2227685</li><li>rs6092</li><li>rs2227669</li>	2
P05129	5582		<li>H->Y at 101: in SCA14, MIM: 605361</li><li>S->P at 119: in SCA14, MIM: 605361</li><li>G->D at 128: in SCA14, MIM: 605361</li><li>R->C at 141, MIM: 605361</li><li>H->Q at 415, MIM: 605361</li><li>A->D at 523, MIM: 605361</li><li>R->S at 659, MIM: 605361</li>								Spinocerebellar ataxia type 14 (SCA14) [MIM:605361]		2
P05141	292		<li>R->L at 111: in dbSNP:rs371749</li>									rs371749	2
P05154			<li>S->G at 44: in dbSNP:rs2069975</li><li>A->V at 55: in allele PCI*B; dbSNP:rs6118</li><li>N->S at 64: in dbSNP:rs6115</li><li>G->V at 94: in dbSNP:rs2069976</li><li>K->E at 105: in allele PCI*B; dbSNP:rs6119</li><li>L->P at 115: in dbSNP:rs2069999</li><li>P->A at 121: in dbSNP:rs6120</li><li>G->R at 217: in dbSNP:rs6114</li>							<li>P05154</li><li>Q9N2I2</li><li>P70458</li>		<li>rs2069976</li><li>rs2069975</li><li>rs6115</li><li>rs6120</li><li>rs2069999</li><li>rs6114</li>	2
P05155	710		<li>D->E at 39: in dbSNP:rs11229062</li><li>V->A at 56: in dbSNP:rs11546660</li><li>Missing  at 84-138: in HAE; type 2</li><li>C->Y at 130: in HAE; type 1, MIM: 106100</li><li>Missing  at 273: in HAE; type 2; TA; creates a new glycosylation site, MIM: 106100</li><li>T->S at 308: in dbSNP:rs1803212, MIM: 106100</li><li>G->R at 345: in HAE; type 1, MIM: 106100</li><li>T->P at 394: in HAE; type 1, MIM: 106100</li><li>D->V at 408: in HAE; type 1, MIM: 106100</li><li>G->R at 429: in HAE; type 2, MIM: 106100</li><li>V->E at 454: in HAE; type 2; WE, MIM: 106100</li><li>A->E at 456: in HAE; type 2; MA, MIM: 106100</li><li>A->T at 458: in HAE; type 2; MO, MIM: 106100</li><li>A->V at 458: in HAE; type 2, MIM: 106100</li><li>A->V at 465: in HAE; type 2, MIM: 106100</li><li>R->C at 466: in HAE; type 2; DA; dbSNP:rs28940870, MIM: 106100</li><li>R->H at 466: in HAE; type 2; AT, MIM: 106100</li><li>R->L at 466: in HAE; type 2, MIM: 106100</li><li>R->S at 466: in HAE; type 2: in dbSNP rsrs28940870, MIM: 106100</li><li>T->P at 467: in HAE; type 2, MIM: 106100</li><li>V->E at 473: in HAE; type 1, MIM: 106100</li><li>V->M at 473: in HAE; type 2, MIM: 106100</li><li>Q->E at 474, MIM: 106100</li><li>F->S at 477: in HAE; type 2, MIM: 106100</li><li>V->M at 480: in dbSNP:rs4926, MIM: 106100</li><li>L->P at 481: in HAE; type 2, MIM: 106100</li><li>L->R at 481: in HAE; type 2, MIM: 106100</li><li>P->R at 489: in HAE; type 2, MIM: 106100</li><li>G->E at 493: in HAE; type 1, MIM: 106100</li><li>P->R at 498: in HAE; type 1, MIM: 106100</li><li>P->S at 498: in HAE; type 2, MIM: 106100</li>								Hereditary angioedema (HAE) [MIM:106100]	<li>rs1803212</li><li>rs28940870</li><li>rs11546660</li><li>rs4926</li><li>rs11229062</li>	2
P05156	3426		<li>G->D at 243: in CFI deficiency, MIM: 217030</li><li>A->T at 300: in dbSNP:rs11098044, MIM: 217030</li><li>I->T at 340: predisposes to atypical HUS, MIM: 217030</li><li>H->L at 418: in CFI deficiency, MIM: 217030</li><li>D->V at 524: associated with atypical HUS, MIM: 217030</li>							<li>P05156</li><li>P41088</li>	<li>Component I deficiency (CFI deficiency) [MIM:217030]</li><li>Complement factor I deficiency (CFI deficiency) [MIM:610984]</li>	rs11098044	2
P05160	2165		<li>M->V at 49: in dbSNP:rs6002</li><li>R->H at 115: in dbSNP:rs6003</li><li>I->T at 342: in dbSNP:rs17514281</li><li>H->R at 350: in dbSNP:rs5999</li><li>E->V at 388: in dbSNP:rs5991</li><li>C->F at 450: in F13B deficiency</li><li>L->P at 529: in dbSNP:rs17549671</li><li>Y->S at 543: in dbSNP:rs6001</li><li>D->E at 569: in dbSNP:rs6000</li>							P05160		<li>rs6000</li><li>rs5999</li><li>rs5991</li><li>rs6003</li><li>rs6001</li><li>rs6002</li><li>rs17549671</li><li>rs17514281</li>	2
P05161	9636		<li>S->N at 83: in dbSNP:rs1921</li>									rs1921	2
P05162	3957		<li>V->I at 119: in dbSNP:rs2235339</li><li>E->Q at 132: in a breast cancer sample; somatic mutation</li>									rs2235339	2
P05164	4353		<li>V->F at 53: in dbSNP:rs7208693</li><li>Y->C at 173: in MPD; affects proteolytic processing and secretion, MIM: 254600</li><li>M->T at 251: in MPD: in dbSNP rsrs56378716, MIM: 254600</li><li>R->Q at 447: in a colorectal cancer sample; somatic mutation, MIM: 254600</li><li>R->W at 569: in MPD; suppress post-translational processing, MIM: 254600</li><li>R->C at 604: in dbSNP rsrs35670089, MIM: 254600</li><li>E->Q at 683: in dbSNP rsrs35702888, MIM: 254600</li><li>I->V at 717: in dbSNP:rs2759, MIM: 254600</li>	secretion	GO:0046903					<li>P32377</li><li>P53602</li>	Myeloperoxidase deficiency (MPD) [MIM:254600]	<li>rs56378716</li><li>rs7208693</li><li>rs35670089</li><li>rs35702888</li><li>rs2759</li>	2
P05165			<li>A->P at 50: in PA-1, MIM: 606054</li><li>R->W at 52: in PA-1, MIM: 606054</li><li>A->T at 113: in PA-1, MIM: 606054</li><li>I->T at 139: in PA-1, MIM: 606054</li><li>G->E at 172: in PA-1, MIM: 606054</li><li>M->K at 204: in PA-1, MIM: 606054</li><li>Q->R at 272: in PA-1, MIM: 606054</li><li>D->G at 343: in PA-1, MIM: 606054</li><li>M->K at 348: in PA-1; unstable protein, MIM: 606054</li><li>G->V at 354: in PA-1, MIM: 606054</li><li>C->R at 373: in PA-1, MIM: 606054</li><li>R->Q at 374: in PA-1, MIM: 606054</li><li>P->L at 398: in PA-1, MIM: 606054</li><li>I->V at 450, MIM: 606054</li><li>Missing  at 507: in PA-1, MIM: 606054</li><li>V->F at 526, MIM: 606054</li><li>W->L at 534: in PA-1, MIM: 606054</li><li>G->R at 606: in PA-1, MIM: 606054</li><li>G->R at 643: in PA-1, MIM: 606054</li><li>Missing  at 687: in PA-1, MIM: 606054</li>								Propionic acidemia type I (PA-1) [MIM:606054]		2
P05166	5096		<li>L->M at 17: in PA-2, MIM: 606054</li><li>R->P at 44: in PA-2, MIM: 606054</li><li>R->S at 67: in PA-2, MIM: 606054</li><li>S->R at 106: in PA-2, MIM: 606054</li><li>V->M at 107: in PA-2, MIM: 606054</li><li>G->D at 112: in PA-2, MIM: 606054</li><li>G->R at 131: in PA-2, MIM: 606054</li><li>K->KICK at 140: in PA-2, MIM: 606054</li><li>A->P at 153: in PA-2, MIM: 606054</li><li>R->Q at 165: in PA-2; does not affect either heteromeric or homomeric assembly, MIM: 606054</li><li>R->W at 165: in PA-2, MIM: 606054</li><li>E->K at 168: in PA-2; common mutation, MIM: 606054</li><li>G->R at 188: in PA-2, MIM: 606054</li><li>G->D at 198: in PA-2, MIM: 606054</li><li>V->D at 205: in PA-2, MIM: 606054</li><li>P->L at 228: in PA-2, MIM: 606054</li><li>G->V at 246: in PA-2, MIM: 606054</li><li>P->S at 287: in dbSNP:rs2228310, MIM: 606054</li><li>Missing  at 341: in PA-2, MIM: 606054</li><li>Missing  at 408: in PA-2, MIM: 606054</li><li>R->W at 410: in PA-2, MIM: 606054</li><li>T->I at 428: in PA-2; dbSNP:rs28934887, MIM: 606054</li><li>I->L at 430: in PA-2, MIM: 606054</li><li>Y->C at 435: in PA-2, MIM: 606054</li><li>Y->C at 439: in PA-2, MIM: 606054</li><li>M->T at 442: in PA-2, MIM: 606054</li><li>A->T at 468: in PA-2, MIM: 606054</li><li>A->V at 497: in PA-2; common mutation; does not affect either heteromeric or homomeric assembly, MIM: 606054</li><li>R->C at 512: in PA-2; affects heteromeric and homomeric assembly, MIM: 606054</li><li>L->P at 519: in PA-2; affects heteromeric and homomeric assembly, MIM: 606054</li><li>N->D at 536: in PA-2; affects heteromeric and homomeric assembly, MIM: 606054</li>								Propionic acidemia type II (PA-2) [MIM:606054]	<li>rs28934887</li><li>rs2228310</li>	2
P05177	1544		<li>S->C at 18: in dbSNP rsrs17861152</li><li>F->L at 21: in allele CYP1A2*2: in dbSNP rsrs56160784</li><li>P->R at 42: in allele CYP1A2*15</li><li>G->R at 73: in dbSNP rsrs45565238</li><li>T->M at 83: in allele CYP1A2*9</li><li>D->N at 104: in dbSNP rsrs34067076</li><li>L->F at 111: in dbSNP rsrs45442197</li><li>E->Q at 168: in allele CYP1A2*10</li><li>F->L at 186: in allele CYP1A2*11; drastic reduction in O-deethylation of phenacetin and 7-ethoxyresorufin; has a Vmax of approximately 5% of that of the wild-type and 5-fold lower Km value</li><li>F->V at 205: in dbSNP rsrs45540640</li><li>S->C at 212: in allele CYP1A2*12</li><li>R->W at 281: in dbSNP rsrs45468096</li><li>S->R at 298: in dbSNP rsrs17861157</li><li>G->S at 299: in allele CYP1A2*13: in dbSNP rsrs35796837</li><li>I->V at 314: in dbSNP rsrs28399418</li><li>D->N at 348: in allele CYP1A2*3; increases N-hydroxylation activity of heterocyclic amines; reduces phenacetin O-deethylation activity</li><li>R->Q at 377: in allele CYP1A2*16</li><li>I->F at 386: in allele CYP1A2*4; increases catalytic efficiency of N-hydroxylation towards some heterocyclic amines and reduces towards others; reduces catalytic efficiency of phenacetin O-deethylation due to a high decrease in the affinity for phenacetin</li><li>C->Y at 406: in allele CYP1A2*5; increases N-hydroxylation activity of heterocyclic amines; reduces catalytic efficiency of phenacetin O-deethylation: in dbSNP rsrs55889066</li><li>R->W at 431: in allele CYP1A2*6; not detected when expressed in heterologous system as it may be critical for maintenance of protein tertiary structure: in dbSNP rsrs28399424</li><li>T->I at 438: in allele CYP1A2*14: in dbSNP rsrs45486893</li><li>R->H at 456: in allele CYP1A2*8</li>							<li>Q5RBQ1</li><li>P00187</li><li>O77809</li><li>Q3LFT9</li><li>Q4H4C3</li><li>Q64391</li><li>P05177</li><li>Q5KQT6</li><li>O77810</li><li>P56592</li><li>Q92110</li><li>Q01741</li><li>P24453</li>		<li>rs45540640</li><li>rs45565238</li><li>rs45442197</li><li>rs35796837</li><li>rs28399418</li><li>rs56160784</li><li>rs34067076</li><li>rs45468096</li><li>rs28399424</li><li>rs55889066</li><li>rs45486893</li><li>rs17861152</li><li>rs17861157</li>	2
P05181	1571		<li>R->H at 76: in allele CYP2E1*2; reduced activity</li><li>V->I at 179: in allele CYP2E1*4; dbSNP:rs6413419</li><li>V->I at 389: in allele CYP2E1*3: in dbSNP rsrs55897648</li><li>H->L at 457: in dbSNP:rs28969387</li>							<li>P51581</li><li>P33266</li><li>O18963</li><li>Q6GUQ4</li><li>P05181</li><li>P79383</li><li>P08682</li>		<li>rs28969387</li><li>rs55897648</li><li>rs6413419</li>	2
P05186	249		<li>S->F at 17: in hypophosphatasia, MIM: 241500</li><li>Y->C at 28: in hypophosphatasia; infantile; 7% of activity, MIM: 241500</li><li>A->V at 33: in hypophosphatasia; 7.2% of wild-type activity, MIM: 241500</li><li>A->V at 40: in hypophosphatasia; 2% of activity, MIM: 241500</li><li>A->S at 51: in hypophosphatasia, MIM: 241500</li><li>A->V at 51: in hypophosphatasia, MIM: 241500</li><li>M->L at 62: in hypophosphatasia; moderate; 27% of activity, MIM: 241500</li><li>M->V at 62: in hypophosphatasia, MIM: 241500</li><li>G->R at 63: in hypophosphatasia, MIM: 241500</li><li>G->V at 63: in hypophosphatasia; loss of activity, MIM: 241500</li><li>T->M at 68: in hypophosphatasia; childhood-type; severe allele, MIM: 241500</li><li>R->C at 71: in hypophosphatasia, MIM: 241500</li><li>R->H at 71: in hypophosphatasia, MIM: 241500</li><li>R->P at 71: in hypophosphatasia, MIM: 241500</li><li>R->S at 71: in hypophosphatasia; childhood-type; severe allele, MIM: 241500</li><li>G->S at 75: in hypophosphatasia; severe; 3.5% of activity, MIM: 241500</li><li>Q->R at 76: in hypophosphatasia, MIM: 241500</li><li>P->L at 108: in hypophosphatasia; 0.4% of wild-type activity; severe allele: in dbSNP rsrs28933975, MIM: 241500</li><li>A->T at 111: in hypophosphatasia; odonto, MIM: 241500</li><li>A->G at 114: in hypophosphatasia, MIM: 241500</li><li>A->T at 116: in hypophosphatasia; loss of activity: in dbSNP rsrs28933974, MIM: 241500</li><li>G->R at 120: in hypophosphatasia, MIM: 241500</li><li>V->M at 128: in hypophosphatasia, MIM: 241500</li><li>G->R at 129: in hypophosphatasia, MIM: 241500</li><li>A->V at 132: in hypophosphatasia, MIM: 241500</li><li>T->H at 134: in hypophosphatasia; requires 2 nucleotide substitutions, MIM: 241500</li><li>T->N at 134: in hypophosphatasia; 9% of activity, MIM: 241500</li><li>R->H at 136: in hypophosphatasia; moderate; 33% of activity, MIM: 241500</li><li>T->I at 148: in hypophosphatasia, MIM: 241500</li><li>R->H at 152: in hypophosphatasia, MIM: 241500</li><li>G->S at 162: in hypophosphatasia, MIM: 241500</li><li>G->V at 162: in hypophosphatasia; severe; 1% of activity, MIM: 241500</li><li>N->D at 170: in hypophosphatasia, MIM: 241500</li><li>H->R at 171: in hypophosphatasia, MIM: 241500</li><li>H->Y at 171: in hypophosphatasia; severe; 2% of activity, MIM: 241500</li><li>A->T at 176: in hypophosphatasia, MIM: 241500</li><li>A->T at 177: in hypophosphatasia; adult type; moderate allele, MIM: 241500</li><li>A->T at 179: in hypophosphatasia, MIM: 241500</li><li>S->L at 181: in hypophosphatasia; 1% OF activity, MIM: 241500</li><li>R->W at 184: in hypophosphatasia; loss of activity, MIM: 241500</li><li>D->E at 189: in hypophosphatasia, MIM: 241500</li><li>E->G at 191: in hypophosphatasia; odonto, MIM: 241500</li><li>E->K at 191: in hypophosphatasia; moderate; frequent mutation in European countries, MIM: 241500</li><li>C->Y at 201: in hypophosphatasia, MIM: 241500</li><li>Q->P at 207: in hypophosphatasia, MIM: 241500</li><li>N->D at 211: in hypophosphatasia, MIM: 241500</li><li>I->F at 212: in hypophosphatasia, MIM: 241500</li><li>G->A at 220: in hypophosphatasia, MIM: 241500</li><li>G->V at 220: in hypophosphatasia; odonto, MIM: 241500</li><li>R->Q at 223: in hypophosphatasia, MIM: 241500</li><li>R->W at 223: in hypophosphatasia; 3% of activity; severe allele, MIM: 241500</li><li>K->E at 224: in hypophosphatasia; infantile; partial loss of activity, MIM: 241500</li><li>E->G at 235: in hypophosphatasia, MIM: 241500</li><li>R->S at 246: in hypophosphatasia; 4% of activity, MIM: 241500</li><li>G->V at 249: in hypophosphatasia; partial loss of activity, MIM: 241500</li><li>Y->H at 263: common polymorphism; dbSNP:rs3200254, MIM: 241500</li><li>R->H at 272: in hypophosphatasia; 6.8% of wild-type activity, MIM: 241500</li><li>R->L at 272: in hypophosphatasia, MIM: 241500</li><li>L->P at 275: in hypophosphatasia; childhood-type; severe allele, MIM: 241500</li><li>L->F at 289: in hypophosphatasia, MIM: 241500</li><li>E->K at 291: in hypophosphatasia; moderate; 8% of activity, MIM: 241500</li><li>P->T at 292: in hypophosphatasia; 4% of wild-type activity, MIM: 241500</li><li>Missing  at 293-294: in hypophosphatasia, MIM: 241500</li><li>D->A at 294: in hypophosphatasia, MIM: 241500</li><li>D->Y at 294: in hypophosphatasia, MIM: 241500</li><li>M->T at 295: in hypophosphatasia; 8.5% of wild-type activity, MIM: 241500</li><li>Y->D at 297: in hypophosphatasia; 1.3% of wild-type activity, MIM: 241500</li><li>E->K at 298: in hypophosphatasia, MIM: 241500</li><li>L->P at 299: in hypophosphatasia, MIM: 241500</li><li>D->V at 306: in hypophosphatasia, MIM: 241500</li><li>E->K at 311: in hypophosphatasia, MIM: 241500</li><li>G->R at 326: in hypophosphatasia; in a patient carrying also lys-291, MIM: 241500</li><li>F->G at 327: in hypophosphatasia; requires 2 nucleotide substitutions, MIM: 241500</li><li>F->L at 327: in hypophosphatasia; childhood, MIM: 241500</li><li>Missing  at 327: in hypophosphatasia, MIM: 241500</li><li>G->D at 334: in hypophosphatasia, MIM: 241500</li><li>G->R at 339: in hypophosphatasia, MIM: 241500</li><li>A->T at 348: in hypophosphatasia, MIM: 241500</li><li>E->D at 354: in hypophosphatasia, MIM: 241500</li><li>D->V at 378: in hypophosphatasia; loss of activity, MIM: 241500</li><li>H->R at 381: in hypophosphatasia, MIM: 241500</li><li>V->I at 382: in hypophosphatasia, MIM: 241500</li><li>R->C at 391: in hypophosphatasia; moderate; 10% of activity, MIM: 241500</li><li>R->H at 391: in hypophosphatasia; childhood-type; severe allele, MIM: 241500</li><li>A->S at 399: in hypophosphatasia, MIM: 241500</li><li>D->G at 406: in hypophosphatasia; 15% of activity, MIM: 241500</li><li>T->A at 411: in hypophosphatasia; absence of residual enzymatic activity, MIM: 241500</li><li>L->M at 414: in hypophosphatasia, MIM: 241500</li><li>N->S at 417: in hypophosphatasia, MIM: 241500</li><li>V->A at 423: in hypophosphatasia; 16% of activity, MIM: 241500</li><li>G->C at 426: in hypophosphatasia; infantile; partial loss of activity, MIM: 241500</li><li>G->D at 426: in hypophosphatasia, MIM: 241500</li><li>Y->H at 436: in hypophosphatasia, MIM: 241500</li><li>S->P at 445: in hypophosphatasia; severe; 2% of activity, MIM: 241500</li><li>R->C at 450: in hypophosphatasia; severe; 4% of activity, MIM: 241500</li><li>R->H at 450: in hypophosphatasia, MIM: 241500</li><li>E->K at 452: in hypophosphatasia, MIM: 241500</li><li>G->R at 456: in hypophosphatasia; loss of activity, MIM: 241500</li><li>V->M at 459: in hypophosphatasia; infantile, MIM: 241500</li><li>A->T at 468: in hypophosphatasia, MIM: 241500</li><li>G->S at 473: in hypophosphatasia, MIM: 241500</li><li>E->K at 476: in hypophosphatasia, MIM: 241500</li><li>N->I at 478: in hypophosphatasia; 9% of activity, MIM: 241500</li><li>C->S at 489: in hypophosphatasia; 9% of activity, MIM: 241500</li><li>I->F at 490: in hypophosphatasia; odonto; partial loss of activity, MIM: 241500</li><li>G->R at 491: in hypophosphatasia, MIM: 241500</li><li>V->A at 522: in dbSNP:rs34605986, MIM: 241500</li>							<li>P23630</li><li>P13345</li><li>P05821</li><li>Q9T1X2</li><li>P13344</li><li>P10099</li><li>P15176</li><li>P51728</li><li>Q03709</li>	<li>Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]</li><li>Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]</li><li>Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]</li>	<li>rs34605986</li><li>rs3200254</li><li>rs28933975</li><li>rs28933974</li>	2
P05187	250		<li>P->L at 25: in dbSNP:rs1130335</li><li>I->L at 89: in dbSNP:rs13026692</li><li>R->P at 231: in dbSNP:rs1048988</li><li>R->H at 263: in dbSNP:rs2853378</li><li>E->G at 451: in dbSNP:rs1048994</li>									<li>rs13026692</li><li>rs1130335</li><li>rs1048994</li><li>rs2853378</li><li>rs1048988</li>	2
P05204	3151		<li>E->K at 7: in variant H17</li>										2
P05230	2246		<li>G->E at 21: in dbSNP rsrs17223632</li>									rs17223632	2
P05305	1906		<li>V->I at 186: in dbSNP:rs6413478</li><li>K->N at 198: in dbSNP:rs5370</li>									<li>rs5370</li><li>rs6413478</li>	2
P05362	3383		<li>S->C at 34: in dbSNP:rs5491</li><li>K->M at 56: in Kilifi; dbSNP:rs5491</li><li>K->N at 155: in dbSNP:rs5492</li><li>G->R at 241: in dbSNP:rs1799969</li><li>V->M at 315: in dbSNP:rs5495</li><li>P->L at 352: in dbSNP:rs1801714</li><li>R->Q at 397: in dbSNP:rs5497</li><li>K->E at 469: in dbSNP:rs5498</li><li>R->W at 478: in dbSNP:rs5030400</li>									<li>rs5498</li><li>rs5497</li><li>rs5495</li><li>rs1799969</li><li>rs5492</li><li>rs5030400</li><li>rs5491</li><li>rs1801714</li>	2
P05412	3725		<li>T->M at 297: in dbSNP:rs9989</li>									rs9989	2
P05452	7123		<li>A->S at 55</li><li>V->M at 58</li><li>S->G at 106: in dbSNP:rs13963</li>									rs13963	2
P05455	6741		<li>P->S at 48: in dbSNP:rs17160793</li>									rs17160793	2
P05534			<li>A->G at 5: in allele A*2401</li><li>H->Q at 27: in allele A*2408</li><li>E->G at 86: in allele A*2408</li><li>G->R at 89: in allele A*2408 and allele A*2429</li><li>L->V at 119: in allele A*2414</li><li>M->R at 121: in allele A*2414</li><li>F->Y at 123: in allele A*2414</li><li>G->W at 131: in allele A*2414</li><li>Q->L at 180: in allele A*2413</li><li>Q->W at 180: in allele A*2406; requires 2 nucleotide substitutions</li><li>T->R at 187: in allele A*2410</li><li>DG->EW at 190-191: in allele A*2403 and allele A*2410</li><li>T->A at 206: in allele A*2401</li>										2
P05543	6906		<li>S->T at 43: in TBG deficiency; San Diego; partial TBG deficiency, MIM: 314200</li><li>I->N at 116: in TBG deficiency; Gary; severe TBG deficiency: in dbSNP rsrs28933689, MIM: 314200</li><li>A->P at 133: in TBG deficiency; Montreal/TBG-M; partial TBG deficiency: in dbSNP rsrs28933688, MIM: 314200</li><li>D->N at 191: in TBG-S/Slow; dbSNP:rs1050086, MIM: 314200</li><li>A->T at 211: in TBG-A/Aborigine; dbSNP:rs2234036, MIM: 314200</li><li>L->P at 247: in TBG deficiency; CD5; complete TBG deficiency: in dbSNP rsrs28937312, MIM: 314200</li><li>L->F at 303: common polymorphism; dbSNP:rs1804495, MIM: 314200</li><li>H->Y at 351: in TBG deficiency; Quebec; partial TBG deficiency, MIM: 314200</li><li>P->L at 383: in TBG deficiency; Kumamoto, MIM: 314200</li>							<li>P05543</li><li>P61640</li><li>P19238</li><li>P50450</li><li>P06127</li><li>Q9TT36</li><li>Q9TT35</li>	TBG deficiency [MIM:314200]	<li>rs28933689</li><li>rs28933688</li><li>rs1050086</li><li>rs1804495</li><li>rs28937312</li><li>rs2234036</li>	2
P05771	5579		<li>V->M at 144: in a colorectal adenocarcinoma sample; somatic mutation</li><li>V->M at 496: in a glioblastoma multiforme sample; somatic mutation</li><li>P->H at 588: in dbSNP rsrs35631544</li>									rs35631544	2
P05997	1290		<li>P->S at 460: in dbSNP:rs35830636</li><li>R->P at 956: in dbSNP:rs6434313</li><li>G->R at 963: in EDS2, MIM: 130010</li>								Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010]	<li>rs35830636</li><li>rs6434313</li>	2
P06028	2994		<li>T->S at 22: in M</li><li>T->M at 48: in S antigen and Mit antigen; dbSNP:rs7683365</li><li>R->H at 54: in Mit antigen</li><li>P->R at 58: in s</li><li>T->S at 84: in dbSNP:rs1132783</li>							Q9U4L6		<li>rs7683365</li><li>rs1132783</li>	2
P06126	909		<li>I->T at 30: in dbSNP:rs2269714</li><li>W->C at 68: in dbSNP:rs2269715</li>									<li>rs2269715</li><li>rs2269714</li>	2
P06127	921		<li>P->L at 224: in dbSNP:rs2241002</li><li>R->H at 461: in dbSNP:rs637186</li>									<li>rs637186</li><li>rs2241002</li>	2
P06133	7363		<li>F->L at 109</li><li>F->L at 396</li><li>D->E at 458: in dbSNP:rs13119049</li>									rs13119049	2
P06241	2534		<li>V->L at 243: in a lung squamous cell carcinoma sample; somatic mutation</li><li>G->R at 410: in a metastatic melanoma sample; somatic mutation</li><li>I->F at 445: in dbSNP:rs1801121</li><li>D->E at 506: in dbSNP rsrs28763975</li>									<li>rs28763975</li><li>rs1801121</li>	2
P06276	590		<li>Missing  at 32: in BChE deficiency</li><li>T->M at 52: in BChE deficiency: in dbSNP rsrs56309853, MIM: 177400</li><li>F->I at 56: in BChE deficiency, MIM: 177400</li><li>Y->C at 61: in BChE deficiency; enzymatically inactive in the plasma, MIM: 177400</li><li>P->S at 65: in BChE deficiency; seems to cause reduced expression of the protein, MIM: 177400</li><li>D->G at 98: in BChE deficiency; BChE atypical form; dibucaine-resistant; dbSNP:rs1799807, MIM: 177400</li><li>D->H at 98: in BChE deficiency, MIM: 177400</li><li>N->Y at 124: in BChE deficiency, MIM: 177400</li><li>P->S at 128: in BChE deficiency; dbSNP:rs3732880, MIM: 177400</li><li>G->D at 143: in BChE deficiency, MIM: 177400</li><li>L->F at 153: in BChE deficiency; seems to cause reduced expression of the protein, MIM: 177400</li><li>Y->C at 156: in BChE deficiency, MIM: 177400</li><li>V->M at 170: in BChE deficiency; allele H variant, MIM: 177400</li><li>D->E at 198: in BChE deficiency; seems to cause reduced expression of the protein, MIM: 177400</li><li>S->G at 226: in BChE deficiency; enzymatically inactive in the plasma, MIM: 177400</li><li>A->V at 227: in BChE deficiency, MIM: 177400</li><li>A->T at 229: in BChE deficiency; enzymatically inactive in the plasma, MIM: 177400</li><li>T->M at 271: in BChE deficiency; allele fluoride-1; dbSNP:rs28933389, MIM: 177400</li><li>T->P at 278: in BChE deficiency, MIM: 177400</li><li>E->D at 283: in dbSNP:rs16849700, MIM: 177400</li><li>K->R at 295: in BChE deficiency, MIM: 177400</li><li>L->P at 335: in BChE deficiency; expressed at very low level, MIM: 177400</li><li>A->D at 356: in BChE deficiency, MIM: 177400</li><li>L->I at 358: in BChE deficiency; BChE variant form; fluoride-resistant; Japanese type, MIM: 177400</li><li>G->R at 393: in BChE deficiency, MIM: 177400</li><li>R->C at 414: in BChE deficiency, MIM: 177400</li><li>G->V at 418: in BChE deficiency; allele fluoride-2; dbSNP:rs28933390, MIM: 177400</li><li>F->S at 446: in BChE deficiency, MIM: 177400</li><li>E->K at 488: in BChE deficiency, MIM: 177400</li><li>W->R at 499: in BChE deficiency; seems to cause reduced expression of the protein, MIM: 177400</li><li>F->L at 502: in BChE deficiency, MIM: 177400</li><li>E->V at 525: in BChE deficiency; allele J variant, MIM: 177400</li><li>R->C at 543: in BChE deficiency, MIM: 177400</li><li>Q->L at 546: in BChE deficiency; seems to cause reduced expression of the protein, MIM: 177400</li><li>A->T at 567: in BChE deficiency; allele K variant; with reduced enzyme activity; dbSNP:rs1803274, MIM: 177400</li>								Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	<li>rs56309853</li><li>rs28933390</li><li>rs16849700</li><li>rs28933389</li><li>rs1799807</li><li>rs1803274</li><li>rs3732880</li>	2
P06280	2717		<li>A->P at 20: in FD; atypical, MIM: 301500</li><li>A->V at 31: in FD, MIM: 301500</li><li>L->P at 32: in FD, MIM: 301500</li><li>N->S at 34: in FD: in dbSNP rsrs28935192, MIM: 301500</li><li>G->R at 35: in FD, MIM: 301500</li><li>P->L at 40: in FD, MIM: 301500</li><li>P->S at 40: in FD, MIM: 301500</li><li>M->V at 42: in FD, MIM: 301500</li><li>LH->RS at 45-46: in FD, MIM: 301500</li><li>H->R at 46: in FD, MIM: 301500</li><li>H->Y at 46: in FD, MIM: 301500</li><li>W->G at 47: in FD, MIM: 301500</li><li>R->L at 49: in FD, MIM: 301500</li><li>R->P at 49: in FD, MIM: 301500</li><li>R->S at 49: in FD, MIM: 301500</li><li>C->R at 52: in FD, MIM: 301500</li><li>C->S at 52: in FD, MIM: 301500</li><li>C->F at 56: in FD, MIM: 301500</li><li>C->G at 56: in FD: in dbSNP rsrs28935193, MIM: 301500</li><li>C->Y at 56: in FD, MIM: 301500</li><li>E->K at 59: in FD, MIM: 301500</li><li>S->T at 65: in FD; does not affect enzyme function, MIM: 301500</li><li>E->Q at 66: in FD: in dbSNP rsrs28935191, MIM: 301500</li><li>M->V at 72: in FD; atypical, MIM: 301500</li><li>G->D at 85: in FD, MIM: 301500</li><li>Y->C at 86: in FD, MIM: 301500</li><li>L->P at 89: in FD, MIM: 301500</li><li>L->R at 89: in FD, MIM: 301500</li><li>I->T at 91: in FD; mild, MIM: 301500</li><li>D->H at 92: in FD, MIM: 301500</li><li>D->Y at 92: in FD, MIM: 301500</li><li>D->G at 93: in FD, MIM: 301500</li><li>C->S at 94: in FD, MIM: 301500</li><li>C->Y at 94: in FD, MIM: 301500</li><li>W->S at 95: in FD, MIM: 301500</li><li>A->V at 97: in FD, MIM: 301500</li><li>R->K at 100: in FD, MIM: 301500</li><li>R->T at 100: in FD, MIM: 301500</li><li>Missing  at 112-117: in FD, MIM: 301500</li><li>R->C at 112: in FD, MIM: 301500</li><li>R->H at 112: in FD; mild, MIM: 301500</li><li>F->L at 113: in FD; mild, MIM: 301500</li><li>F->S at 113: in FD, MIM: 301500</li><li>LA->PT at 120-121: in FD, MIM: 301500</li><li>G->E at 128: in FD, MIM: 301500</li><li>L->P at 131: in FD, MIM: 301500</li><li>Y->S at 134: in FD, MIM: 301500</li><li>G->R at 138: in FD, MIM: 301500</li><li>C->R at 142: in FD, MIM: 301500</li><li>C->Y at 142: in FD, MIM: 301500</li><li>A->P at 143: in FD, MIM: 301500</li><li>A->T at 143: in FD, MIM: 301500</li><li>G->V at 144: in FD, MIM: 301500</li><li>P->S at 146: in FD; mild: in dbSNP rsrs28935194, MIM: 301500</li><li>S->N at 148: in FD, MIM: 301500</li><li>S->R at 148: in FD, MIM: 301500</li><li>A->T at 156: in FD: in dbSNP rsrs28935195, MIM: 301500</li><li>A->V at 156: in FD, MIM: 301500</li><li>W->C at 162: in FD, MIM: 301500</li><li>W->R at 162: in FD: in dbSNP rsrs28935196, MIM: 301500</li><li>G->V at 163: in FD, MIM: 301500</li><li>D->V at 165: in FD, MIM: 301500</li><li>L->V at 166: in FD, MIM: 301500</li><li>D->V at 170: in FD, MIM: 301500</li><li>C->R at 172: in FD, MIM: 301500</li><li>C->Y at 172: in FD, MIM: 301500</li><li>G->D at 183: in FD, MIM: 301500</li><li>M->V at 187: in FD, MIM: 301500</li><li>C->W at 202: in FD: in dbSNP rsrs28936082, MIM: 301500</li><li>C->Y at 202: in FD, MIM: 301500</li><li>Missing  at 205-207: in FD, MIM: 301500</li><li>P->T at 205: in FD, MIM: 301500</li><li>N->S at 215: in FD; mild: in dbSNP rsrs28935197, MIM: 301500</li><li>Y->D at 216: in FD, MIM: 301500</li><li>I->N at 219: in FD, MIM: 301500</li><li>C->G at 223: in FD, MIM: 301500</li><li>N->D at 224: in FD, MIM: 301500</li><li>N->S at 224: in FD, MIM: 301500</li><li>W->R at 226: in FD, MIM: 301500</li><li>R->Q at 227: in FD: in dbSNP rsrs28935198, MIM: 301500</li><li>A->T at 230: in FD, MIM: 301500</li><li>D->N at 231: in FD, MIM: 301500</li><li>S->C at 235: in FD, MIM: 301500</li><li>W->C at 236: in FD, MIM: 301500</li><li>W->L at 236: in FD, MIM: 301500</li><li>I->N at 242: in FD, MIM: 301500</li><li>D->H at 244: in FD, MIM: 301500</li><li>D->N at 244: in FD, MIM: 301500</li><li>S->SWTS at 247: in FD, MIM: 301500</li><li>G->R at 258: in FD, MIM: 301500</li><li>P->L at 259: in FD, MIM: 301500</li><li>P->R at 259: in FD, MIM: 301500</li><li>G->A at 260: in FD, MIM: 301500</li><li>G->D at 261: in FD, MIM: 301500</li><li>N->S at 263: in FD, MIM: 301500</li><li>D->V at 264: in FD; dbSNP:rs28935486, MIM: 301500</li><li>P->R at 265: in FD, MIM: 301500</li><li>D->H at 266: in FD, MIM: 301500</li><li>D->N at 266: in FD, MIM: 301500</li><li>D->V at 266: in FD; dbSNP:rs28935487, MIM: 301500</li><li>M->I at 267: in FD, MIM: 301500</li><li>V->A at 269: in FD; dbSNP:rs28935488, MIM: 301500</li><li>N->K at 272: in FD, MIM: 301500</li><li>N->S at 272: in FD; dbSNP:rs28935495, MIM: 301500</li><li>Q->E at 279: in FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells: in dbSNP rsrs28935485, MIM: 301500</li><li>Q->H at 279: in FD, MIM: 301500</li><li>Q->H at 280: in FD, MIM: 301500</li><li>M->T at 284: in FD, MIM: 301500</li><li>W->C at 287: in FD, MIM: 301500</li><li>W->G at 287: in FD, MIM: 301500</li><li>A->D at 288: in FD, MIM: 301500</li><li>I->F at 289: in FD, MIM: 301500</li><li>M->I at 296: in FD; atypical, MIM: 301500</li><li>M->V at 296: in FD; mild, MIM: 301500</li><li>S->F at 297: in FD; dbSNP:rs28935489, MIM: 301500</li><li>N->H at 298: in FD, MIM: 301500</li><li>N->K at 298: in FD, MIM: 301500</li><li>N->S at 298: in FD, MIM: 301500</li><li>R->Q at 301: in FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells, MIM: 301500</li><li>D->Y at 313: in FD; dbSNP:rs28935490, MIM: 301500</li><li>Missing  at 316-322: in FD, MIM: 301500</li><li>V->E at 316: in FD, MIM: 301500</li><li>N->K at 320: in FD, MIM: 301500</li><li>N->Y at 320: in FD, MIM: 301500</li><li>Q->E at 321: in FD, MIM: 301500</li><li>Q->K at 327: in FD; dbSNP:rs28935491, MIM: 301500</li><li>G->A at 328: in FD: in dbSNP rsrs28935492, MIM: 301500</li><li>G->R at 328: in FD, MIM: 301500</li><li>W->R at 340: in FD, MIM: 301500</li><li>E->K at 341: in FD, MIM: 301500</li><li>R->Q at 342: in FD; severe; dbSNP:rs28935493, MIM: 301500</li><li>R->W at 356: in FD; severe, MIM: 301500</li><li>E->K at 358: in FD, MIM: 301500</li><li>Missing  at 358: in FD, MIM: 301500</li><li>G->R at 361: in FD; severe; dbSNP:rs28935494, MIM: 301500</li><li>R->H at 363: in FD, MIM: 301500</li><li>G->D at 373: in FD, MIM: 301500</li><li>G->S at 373: in FD, MIM: 301500</li><li>A->D at 377: in FD, MIM: 301500</li><li>C->Y at 378: in FD, MIM: 301500</li><li>Missing  at 383: in FD; severe; with facial telangiectasias, MIM: 301500</li><li>F->Y at 396: in RNA edited version, MIM: 301500</li><li>Missing  at 404: in FD; mild, MIM: 301500</li><li>P->A at 409: in FD, MIM: 301500</li><li>P->T at 409: in FD, MIM: 301500</li><li>T->A at 410: in FD; mild, MIM: 301500</li>					ER	GO:0005783		Fabry disease (FD) [MIM:301500]	<li>rs28936082</li><li>rs28935489</li><li>rs28935485</li><li>rs28935488</li><li>rs28935487</li><li>rs28935486</li><li>rs28935491</li><li>rs28935196</li><li>rs28935492</li><li>rs28935197</li><li>rs28935493</li><li>rs28935194</li><li>rs28935494</li><li>rs28935195</li><li>rs28935495</li><li>rs28935198</li><li>rs28935192</li><li>rs28935193</li><li>rs28935490</li><li>rs28935191</li>	2
P06396	2934		<li>S->L at 22: in a breast cancer sample; somatic mutation</li><li>A->T at 129: in dbSNP:rs2230287</li><li>T->I at 201: in a breast cancer sample; somatic mutation</li><li>D->N at 214: in AMYL5, MIM: 105120</li><li>D->Y at 214: in AMYL5, MIM: 105120</li><li>S->N at 611: in a breast cancer sample; somatic mutation, MIM: 105120</li><li>R->L at 668: in dbSNP:rs9696578, MIM: 105120</li>								Amyloidosis type 5 (AMYL5) [MIM:105120]	<li>rs9696578</li><li>rs2230287</li>	2
P06400	5925		<li>E->Q at 72: in RB, MIM: 180200</li><li>N->H at 133: in dbSNP:rs3092900, MIM: 180200</li><li>E->D at 137: in RB; unilateral form: in dbSNP rsrs3092902, MIM: 180200</li><li>I->T at 185: in RB, MIM: 180200</li><li>G->E at 310: in RB; could be a polymorphism, MIM: 180200</li><li>R->G at 358: in RB, MIM: 180200</li><li>R->Q at 358: in RB, MIM: 180200</li><li>Q->K at 436: in dbSNP:rs4151534, MIM: 180200</li><li>K->Q at 447: in RB, MIM: 180200</li><li>M->R at 457: in RB, MIM: 180200</li><li>Missing  at 480: in RB; mild form, MIM: 180200</li><li>R->G at 500: in RB, MIM: 180200</li><li>A->G at 525: in dbSNP:rs4151539, MIM: 180200</li><li>K->R at 530: in RB, MIM: 180200</li><li>H->Y at 549: in RB, MIM: 180200</li><li>S->L at 567: in RB, MIM: 180200</li><li>L->F at 569: in dbSNP:rs3092895, MIM: 180200</li><li>K->E at 616: in RB, MIM: 180200</li><li>A->P at 635: in RB, MIM: 180200</li><li>V->E at 654: in RB, MIM: 180200</li><li>L->P at 657: in RB, MIM: 180200</li><li>R->W at 661: in RB; mild form, MIM: 180200</li><li>L->P at 662: in RB, MIM: 180200</li><li>H->P at 673: in RB, MIM: 180200</li><li>Q->P at 685: in RB, MIM: 180200</li><li>D->E at 697: in dbSNP:rs3092903, MIM: 180200</li><li>C->Y at 706: in RB, MIM: 180200</li><li>C->R at 712: in RB, MIM: 180200</li><li>E->G at 746: in dbSNP:rs3092905, MIM: 180200</li><li>N->K at 803: in RB, MIM: 180200</li>								Childhood cancer retinoblastoma (RB) [MIM:180200]	<li>rs3092905</li><li>rs3092903</li><li>rs3092902</li><li>rs4151539</li><li>rs3092895</li><li>rs3092900</li><li>rs4151534</li>	2
P06401	5241		<li>A->T at 50: in dbSNP rsrs11571143</li><li>A->V at 120: in dbSNP rsrs11571144</li><li>P->L at 186: in dbSNP rsrs11571145</li><li>M->R at 301: in dbSNP rsrs11571146</li><li>S->T at 344: in dbSNP:rs3740753</li><li>C->S at 347: in dbSNP:rs11571147</li><li>A->S at 444: in dbSNP:rs11571150</li><li>V->L at 529: in dbSNP rsrs11571151</li><li>Q->P at 536: in dbSNP rsrs11571152</li><li>R->I at 625: in dbSNP:rs2020874</li><li>L->V at 651: in dbSNP:rs11571222</li><li>V->L at 660: in dbSNP:rs1042838</li><li>S->L at 865: in dbSNP:rs2020880</li>									<li>rs3740753</li><li>rs11571222</li><li>rs11571151</li><li>rs1042838</li><li>rs11571150</li><li>rs11571143</li><li>rs11571144</li><li>rs2020880</li><li>rs11571145</li><li>rs11571146</li><li>rs11571147</li><li>rs11571152</li><li>rs2020874</li>	2
P06576	506		<li>E->Q at 274: in dbSNP:rs1042001</li>									rs1042001	2
P06681	717		<li>C->Y at 131: in C2D; type II</li><li>S->F at 209: in C2D; type II: in dbSNP rsrs28934590</li><li>E->D at 318: in dbSNP:rs9332739</li><li>G->R at 464: in C2D; type II</li><li>F->L at 533: in dbSNP:rs1042664</li><li>R->C at 734: in dbSNP:rs4151648</li>									<li>rs1042664</li><li>rs9332739</li><li>rs4151648</li><li>rs28934590</li>	2
P06702	6280		<li>H->R at 20</li>										2
P06703	6277		<li>H->R at 27: in dbSNP:rs11974</li><li>N->S at 69: in dbSNP:rs1802581</li><li>I->T at 83: in dbSNP:rs1802582</li><li>G->D at 90: in dbSNP:rs2228293</li>									<li>rs11974</li><li>rs1802581</li><li>rs1802582</li><li>rs2228293</li>	2
P06727			<li>V->M at 13: in allele APOA-IV*1D</li><li>E->K at 44: in Budapest-2</li><li>G->S at 74: in dbSNP:rs5102</li><li>Q->H at 77</li><li>N->S at 147: in allele APOA-IV*1B; dbSNP:rs5104</li><li>A->S at 161: in Seattle-3</li><li>S->L at 178: in Seattle-1; may contribute to the development of familial combined hyperlipidemia</li><li>E->K at 185: in allele APOA-IV*3</li><li>K->E at 187: in allele APOA-IV*0A</li><li>E->K at 250: in allele APOA-IV*3A</li><li>R->Q at 264: in Seattle-2; may contribute to the development of familial combined hyperlipidemia</li><li>R->K at 279: in dbSNP:rs1042372</li><li>R->C at 305: in Budapest-1</li><li>V->L at 307: in dbSNP:rs5108</li><li>T->S at 367: in allele APOA-IV*1A and allele Budapest-1; dbSNP:rs675</li><li>Q->H at 380: in allele APOA-IV*2; dbSNP:rs5110</li><li>Q->QEQQQ at 381: in allele APOA-IV*0 and allele APOA-IV*5</li>	development	GO:0007275							<li>rs1042372</li><li>rs5102</li><li>rs5108</li>	2
P06732	1158		<li>E->G at 83: in dbSNP:rs11559024</li><li>L->V at 127: in dbSNP:rs17875653</li><li>T->M at 166: in dbSNP:rs17357122</li><li>G->A at 243: in dbSNP:rs17875625</li>									<li>rs17357122</li><li>rs17875625</li><li>rs17875653</li><li>rs11559024</li>	2
P06734	2208		<li>R->W at 62: in dbSNP:rs2228137</li><li>R->Q at 284: in dbSNP:rs8102872</li>									<li>rs2228137</li><li>rs8102872</li>	2
P06737	5836		<li>V->I at 222: in dbSNP:rs946616</li><li>V->E at 231: in dbSNP:rs1042195</li><li>N->S at 339: in GSD6, MIM: 232700</li><li>N->K at 377: in GSD6, MIM: 232700</li><li>R->P at 425: in dbSNP:rs2228499, MIM: 232700</li><li>V->G at 698: in dbSNP:rs35831273, MIM: 232700</li><li>R->S at 715: in dbSNP:rs1042210, MIM: 232700</li><li>I->L at 806: in dbSNP:rs34313873, MIM: 232700</li>								Glycogen storage disease type 6 (GSD6) [MIM:232700]	<li>rs1042210</li><li>rs946616</li><li>rs1042195</li><li>rs2228499</li><li>rs34313873</li><li>rs35831273</li>	2
P06744	2821	<ul><li>S->A at 185: Retained full enzymatic activity</li><li>S->E at 185: Decreased enzymatic activity</li></ul>	<li>T->I at 5: in HA; GPI Matsumoto, MIM: 172400</li><li>H->P at 20: in HA; severe form with neurological deficits; GPI Homburg, MIM: 172400</li><li>R->G at 75: in HA; GPI Elyria, MIM: 172400</li><li>R->W at 83: in HA, MIM: 172400</li><li>V->M at 101: in HA; GPI Sarcina, MIM: 172400</li><li>G->S at 159: in HA, MIM: 172400</li><li>T->I at 195: in HA; GPI Bari and Mola, MIM: 172400</li><li>I->T at 208: in dbSNP:rs8191371, MIM: 172400</li><li>T->M at 224: in HA; GPI Iwate, MIM: 172400</li><li>R->H at 273: in HA, MIM: 172400</li><li>S->L at 278: in HA; dbSNP:rs34306618, MIM: 172400</li><li>A->P at 300: in HA, MIM: 172400</li><li>R->H at 308: in dbSNP:rs2230294, MIM: 172400</li><li>L->P at 339: in HA; severe form with neurological deficits; GPI Homburg, MIM: 172400</li><li>Q->R at 343: in HA; GPI Narita and Morcone, MIM: 172400</li><li>R->C at 347: in HA; GPI Mount Scopus, MIM: 172400</li><li>R->H at 347: in HA, MIM: 172400</li><li>T->R at 375: in HA; GPI Kinki, MIM: 172400</li><li>H->R at 389: in HA; severe form; GPI Calden, MIM: 172400</li><li>R->H at 472: in HA, MIM: 172400</li><li>L->F at 487: in HA, MIM: 172400</li><li>E->K at 495: in HA, MIM: 172400</li><li>L->V at 517: in HA; severe form; GPI Calden, MIM: 172400</li><li>I->T at 525: in HA, MIM: 172400</li><li>D->N at 539: in HA; GPI Fukuoka and Kinki, MIM: 172400</li>							<li>P78033</li><li>Q2YWS3</li><li>Q31AX5</li><li>Q5HQJ9</li><li>Q8FR39</li><li>Q8EZG6</li><li>Q3KLX6</li><li>Q39FF4</li><li>Q97FP8</li><li>Q3M6S3</li><li>Q8NS31</li><li>O51672</li><li>O82059</li><li>Q5M1N9</li><li>Q89A35</li><li>P50309</li><li>Q74K31</li><li>Q8SRY1</li><li>Q49WA1</li><li>Q3JCN1</li><li>Q5E847</li><li>Q48VF9</li><li>Q2FIB3</li><li>Q9HV67</li><li>Q31I19</li><li>Q928R6</li><li>P64193</li><li>Q5XE09</li><li>P64192</li><li>Q8R924</li><li>Q6NIE5</li><li>P64195</li><li>Q1BH79</li><li>O25781</li><li>P64194</li><li>Q2JH03</li><li>Q0VR14</li><li>Q8DCK7</li><li>P0A6T1</li><li>P0A6T2</li><li>Q13Z07</li><li>Q47IJ3</li><li>Q491V0</li><li>Q2JX86</li><li>Q9ZK49</li><li>Q8EVU1</li><li>Q7MUV9</li><li>Q5HHC2</li><li>Q3BUL3</li><li>Q28QX4</li><li>Q8NXF1</li><li>Q8ENY8</li><li>Q6F1L2</li><li>Q2YPF3</li><li>Q1GTU1</li><li>Q1LU73</li><li>P64196</li><li>Q62JL8</li><li>Q5YPP1</li><li>Q92SC4</li><li>Q2IE39</li><li>Q4QL07</li><li>Q7VRI4</li><li>Q65FL6</li><li>Q2P380</li><li>Q7WP01</li><li>Q9N1E2</li><li>Q39SU1</li><li>Q3AJU7</li><li>Q2G7C4</li><li>Q5PL07</li><li>Q835G1</li><li>P47357</li><li>Q72GY6</li><li>Q6GIC6</li><li>Q5WDX0</li><li>Q96YC2</li><li>Q4L4X8</li><li>Q8K8Q6</li><li>P0A0T1</li><li>Q4A9F3</li><li>P0A0T0</li><li>P13377</li><li>Q8EBH1</li><li>P52983</li><li>Q9CNL2</li><li>Q255I6</li><li>P52031</li><li>P52030</li><li>P57636</li><li>Q8L1Z9</li><li>Q1R3R3</li><li>Q9UXW3</li><li>Q3B3Q8</li><li>P42861</li><li>Q57F73</li><li>Q8G2N3</li><li>Q9K7L8</li><li>Q8K910</li><li>Q8DN74</li><li>Q1JIS1</li><li>O59618</li><li>Q57H06</li><li>P52029</li><li>Q2JHU0</li><li>Q3YUW0</li><li>Q8Z1U7</li><li>Q8UI94</li><li>Q2YBU4</li><li>Q2SWP6</li><li>Q7NJY9</li><li>Q1LM68</li><li>Q7S986</li><li>Q5WYE0</li><li>Q3AFH3</li><li>Q6G0T9</li><li>Q4JCA7</li><li>Q1CSA0</li><li>Q8DKY2</li><li>Q72YI4</li><li>Q2S8W1</li><li>Q9RMC1</li><li>Q9X670</li><li>Q9KUY4</li><li>Q3K2Y2</li><li>Q81K75</li><li>Q5UXU0</li><li>Q24VW9</li><li>P29333</li><li>Q6YQU0</li><li>P44312</li><li>Q9CD75</li><li>O84382</li><li>Q8A5W2</li><li>P54240</li><li>Q6GAW4</li><li>Q5FL04</li><li>Q83XM3</li><li>Q18FQ4</li><li>Q4K5Y1</li><li>Q711G1</li><li>Q7VUF4</li><li>Q65TC2</li><li>Q1MM06</li><li>Q59000</li><li>Q758L0</li><li>Q5L5E1</li><li>Q8P9S7</li><li>Q9RTL8</li><li>Q6KH90</li><li>P54238</li><li>Q4UTV8</li><li>P54239</li><li>Q9Z6N4</li><li>P54236</li><li>P54237</li><li>Q21M11</li><li>P54234</li><li>P54235</li><li>Q87EV7</li><li>Q9HIC2</li><li>P46479</li><li>Q2FZU0</li><li>Q6D022</li><li>Q11MA0</li><li>Q1J8N2</li><li>Q2VYV7</li><li>Q5QWW0</li><li>Q1WUR2</li><li>Q83D91</li><li>Q1CX51</li><li>Q9YE01</li><li>Q5L9E3</li><li>Q1JDQ8</li><li>P54241</li><li>P54242</li><li>Q1QEK1</li><li>P54243</li><li>P81181</li><li>P77877</li><li>Q9KX58</li><li>Q67QQ0</li><li>Q632G4</li><li>Q63V31</li><li>P78917</li><li>Q88UI4</li><li>Q822E7</li><li>Q3JRE2</li><li>P18240</li><li>Q328X7</li><li>Q609I7</li><li>Q3ASZ0</li><li>Q97WE5</li><li>Q8D1V8</li><li>Q2KYE9</li><li>Q9PMD4</li><li>Q4R591</li><li>P99078</li><li>Q1GAY0</li><li>Q8RHH5</li><li>Q5N0B4</li><li>O66954</li><li>Q3A201</li><li>Q3AXV8</li><li>Q6MTA3</li><li>Q3IMS0</li><li>Q6AQ48</li><li>Q5P0T4</li><li>Q8P2R3</li><li>Q6LXQ4</li><li>Q71X61</li><li>Q3ZBD7</li><li>Q7V1I1</li><li>P12709</li><li>Q7W197</li><li>Q2RQ51</li><li>P84140</li><li>Q5JE38</li><li>P49105</li><li>Q6A5X5</li><li>Q7VBZ6</li><li>Q742E4</li><li>Q9A1L1</li><li>Q9HGZ2</li><li>P08059</li><li>Q8KDQ7</li><li>Q87L81</li><li>Q5R4E3</li><li>Q0TA36</li><li>Q660E3</li><li>Q8G7I6</li><li>Q6MD44</li><li>Q98BV5</li><li>Q7V7M6</li><li>Q2KCY8</li><li>Q97NG0</li><li>Q5KVS7</li><li>P12341</li><li>Q8XYN9</li><li>Q888Q7</li><li>Q165T7</li><li>Q74DK5</li><li>Q9HNQ6</li><li>Q3IKH4</li><li>Q600A8</li><li>Q8CT80</li><li>Q7VNR9</li><li>Q2SS24</li><li>Q4JX51</li><li>Q848I4</li><li>Q6HC08</li><li>Q2LRD0</li><li>Q5SLL6</li><li>Q8ZAS2</li><li>Q4A7J2</li><li>Q1IYT4</li><li>Q21ZD5</li><li>Q5X6Y8</li><li>O83488</li><li>Q9ABK5</li><li>Q31TX1</li><li>Q3J2U4</li><li>Q64PM7</li><li>Q9RDY2</li><li>P80860</li><li>Q5H0A7</li><li>Q82SP4</li><li>Q664W9</li><li>P06745</li><li>P06744</li><li>Q59088</li><li>Q8ZWV0</li><li>Q6FRW1</li><li>P83194</li><li>Q8ZKI4</li><li>Q7U6T0</li><li>Q9PK16</li><li>Q891H2</li><li>Q8VVB7</li><li>P28718</li><li>Q4A5S9</li><li>Q8FB44</li><li>Q44407</li><li>P83780</li><li>Q1H1P4</li><li>Q4FVH5</li><li>Q98R79</li><li>Q2NR04</li><li>Q4ZY88</li><li>Q8YF86</li><li>Q2NJ38</li><li>Q5LRS9</li><li>Q978F3</li><li>Q5NFC4</li><li>Q48N88</li><li>Q2A2C5</li><li>Q46L16</li><li>Q7MH97</li><li>Q6LM51</li><li>Q5ZXH2</li><li>Q8XI54</li><li>Q8YY05</li><li>Q9FXM5</li><li>Q9FXM4</li><li>Q3K6Q4</li><li>P34795</li><li>Q1GJQ5</li><li>P34796</li><li>P34797</li><li>Q7MZB4</li><li>Q816G0</li><li>Q9X1A5</li><li>Q72MT7</li><li>Q31LL0</li><li>Q38WF1</li><li>Q9PGR6</li><li>Q8Y4R7</li><li>Q1ASN4</li><li>Q1JNM4</li><li>Q73K18</li>	Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	<li>rs34306618</li><li>rs2230294</li><li>rs8191371</li>	3
P06753	7170		<li>M->R at 8: in NEM1; decrease in the sensitivity of contraction to activating calcium, MIM: 609284</li>							P38757	Nemaline myopathy type 1 (NEM1) [MIM:609284]		2
P06756	3685		<li>I->V at 405: in dbSNP:rs3738918</li><li>V->I at 783: in dbSNP:rs2230616</li>									<li>rs3738918</li><li>rs2230616</li>	2
P06858	4023		<li>D->N at 36: in dbSNP:rs1801177</li><li>H->Q at 71: in dbSNP:rs11542065</li><li>R->S at 102: in LPL deficiency, MIM: 238600</li><li>W->G at 113: in chylomicronemia, MIM: 238600</li><li>W->R at 113: in chylomicronemia, MIM: 238600</li><li>H->R at 163: in chylomicronemia, MIM: 238600</li><li>G->E at 169: in chylomicronemia; loss of activity, MIM: 238600</li><li>G->S at 181: in chylomicronemia, MIM: 238600</li><li>D->G at 183: in chylomicronemia; loss of activity, MIM: 238600</li><li>D->N at 183: in chylomicronemia; loss of activity, MIM: 238600</li><li>P->R at 184: in chylomicronemia; Nijmegen; loss of activity, MIM: 238600</li><li>A->T at 185: in chylomicronemia; 3.2% of activity, MIM: 238600</li><li>S->C at 199: in LPL deficiency; mild hypertriglyceridemia; partial activity, MIM: 238600</li><li>A->T at 203: in chylomicronemia; Bethesda; loss of activity and abnormal heparin binding, MIM: 238600</li><li>D->E at 207: in chylomicronemia, MIM: 238600</li><li>H->Q at 210: in chylomicronemia; loss of activity, MIM: 238600</li><li>G->E at 215: in chylomicronemia; loss of activity, MIM: 238600</li><li>S->R at 220: in chylomicronemia, 2.o% of activity, MIM: 238600</li><li>I->T at 221: in chylomicronemia; loss of activity, MIM: 238600</li><li>G->E at 222: in LPL deficiency, MIM: 238600</li><li>D->E at 231: in chylomicronemia; loss of activity, MIM: 238600</li><li>I->S at 232: in chylomicronemia, MIM: 238600</li><li>P->L at 234: in LPL deficiency; loss of activity, MIM: 238600</li><li>C->S at 243: in chylomicronemia; loss of activity, MIM: 238600</li><li>R->H at 270: in chylomicronemia; loss of activity, MIM: 238600</li><li>S->T at 271: in chylomicronemia: in dbSNP rsrs28934893, MIM: 238600</li><li>D->N at 277: in chylomicronemia; 5% of full activity, MIM: 238600</li><li>S->C at 278: in chylomicronemia, MIM: 238600</li><li>S->G at 286: in chylomicronemia, MIM: 238600</li><li>S->R at 286: in chylomicronemia, MIM: 238600</li><li>A->T at 288: in dbSNP:rs1800011, MIM: 238600</li><li>N->S at 318: in LPL deficiency; loss of activity; frequent mutation; dbSNP:rs268, MIM: 238600</li><li>M->T at 328: in chylomicronemia, MIM: 238600</li><li>L->P at 330: in chylomicronemia, MIM: 238600</li><li>A->T at 361: in chylomicronemia, MIM: 238600</li><li>V->M at 370: in dbSNP:rs298, MIM: 238600</li><li>T->A at 379: in dbSNP:rs300, MIM: 238600</li><li>L->V at 392: in LPL deficiency; loss of activity, MIM: 238600</li><li>Missing  at 423-424: in chylomicronemia; affects the protein folding, MIM: 238600</li><li>A->T at 427: in dbSNP:rs5934, MIM: 238600</li><li>E->K at 437: in chylomicronemia, MIM: 238600</li><li>E->V at 437: in chylomicronemia, MIM: 238600</li>	protein folding	GO:0006457	heparin binding	GO:0008201			<li>P49923</li><li>P11602</li><li>P06858</li><li>P49060</li><li>P55031</li><li>P11151</li><li>Q06000</li><li>P11152</li><li>P11153</li><li>Q29524</li><li>O46647</li>	Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	<li>rs300</li><li>rs5934</li><li>rs298</li><li>rs268</li><li>rs11542065</li><li>rs1801177</li><li>rs28934893</li><li>rs1800011</li>	2
P06865	3073		<li>P->S at 25: in GM2G1; late infantile, MIM: 272800</li><li>L->R at 39: in GM2G1; infantile, MIM: 272800</li><li>L->F at 127: in GM2G1, MIM: 272800</li><li>L->R at 127: in GM2G1; infantile, MIM: 272800</li><li>R->G at 166: in GM2G1; late infantile, MIM: 272800</li><li>R->Q at 170: in GM2G1; infantile; inactive or unstable protein, MIM: 272800</li><li>R->W at 170: in GM2G1; infantile, MIM: 272800</li><li>R->C at 178: in GM2G1; infantile; inactive protein, MIM: 272800</li><li>R->H at 178: in GM2G1; infantile; inactive protein, MIM: 272800</li><li>R->L at 178: in GM2G1; infantile: in dbSNP rsrs28941770, MIM: 272800</li><li>Y->H at 180: in GM2G1: in dbSNP rsrs28941771, MIM: 272800</li><li>V->L at 192: in GM2G1; infantile, MIM: 272800</li><li>N->S at 196: in GM2G1, MIM: 272800</li><li>K->T at 197: in GM2G1, MIM: 272800</li><li>V->M at 200: in GM2G1; dbSNP:rs1800429, MIM: 272800</li><li>H->R at 204: in GM2G1; infantile, MIM: 272800</li><li>S->F at 210: in GM2G1; infantile, MIM: 272800</li><li>F->S at 211: in GM2G1; infantile, MIM: 272800</li><li>S->F at 226: in GM2G1, MIM: 272800</li><li>R->W at 247: in HEXA pseudodeficiency, MIM: 272800</li><li>R->W at 249: in HEXA pseudodeficiency, MIM: 272800</li><li>G->D at 250: in GM2G1; juvenile, MIM: 272800</li><li>G->S at 250: in GM2G1, MIM: 272800</li><li>R->H at 252: in GM2G1, MIM: 272800</li><li>R->L at 252: in GM2G1, MIM: 272800</li><li>D->H at 258: in GM2G1; infantile, MIM: 272800</li><li>G->D at 269: in GM2G1, MIM: 272800</li><li>G->S at 269: in GM2G1; late onset; inhibited subunit dissociation, MIM: 272800</li><li>S->P at 279: in GM2G1; late infantile, MIM: 272800</li><li>N->S at 295: in GM2G1, MIM: 272800</li><li>M->R at 301: in GM2G1; infantile, MIM: 272800</li><li>Missing  at 304: in GM2G1; infantile; Moroccan Jewish, MIM: 272800</li><li>D->V at 314: in GM2G1, MIM: 272800</li><li>Missing  at 320: in GM2G1; late infantile, MIM: 272800</li><li>I->F at 335: in GM2G1, MIM: 272800</li><li>Missing  at 347-352: in GM2G1, MIM: 272800</li><li>V->M at 391: in GM2G1; mild; associated with spinal muscular atrophy, MIM: 272800</li><li>N->D at 399: in dbSNP:rs1800430, MIM: 272800</li><li>W->C at 420: in GM2G1; infantile; inactive protein, MIM: 272800</li><li>V->I at 436: in dbSNP:rs1800431, MIM: 272800</li><li>G->S at 454: in GM2G1; infantile, MIM: 272800</li><li>G->R at 455: in GM2G1; late infantile, MIM: 272800</li><li>C->Y at 458: in GM2G1; infantile, MIM: 272800</li><li>W->C at 474: in GM2G1; subacute, MIM: 272800</li><li>E->K at 482: in GM2G1; infantile, MIM: 272800</li><li>L->Q at 484: in GM2G1; infantile, MIM: 272800</li><li>W->R at 485: in GM2G1; infantile, MIM: 272800</li><li>R->C at 499: in GM2G1; infantile, MIM: 272800</li><li>R->H at 499: in GM2G1; juvenile, MIM: 272800</li><li>R->C at 504: in GM2G1; infantile: in dbSNP rsrs28942071, MIM: 272800</li><li>R->H at 504: in GM2G1; juvenile; inhibited subunit dissociation, MIM: 272800</li>							<li>P06865</li><li>Q17020</li><li>Q5RC84</li><li>P49009</li>	GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	<li>rs28942071</li><li>rs1800429</li><li>rs28941770</li><li>rs1800431</li><li>rs1800430</li><li>rs28941771</li>	2
P06870	3816		<li>R->H at 77: in dbSNP:rs5515</li><li>Q->E at 145: in dbSNP:rs5516</li><li>E->K at 186: in dbSNP:rs5517</li><li>V->E at 193: in dbSNP:rs5518</li>									<li>rs5516</li><li>rs5517</li><li>rs5515</li><li>rs5518</li>	2
P06881	796		<li>D->N at 57: in dbSNP:rs5239</li>									rs5239	2
P07093	5270		<li>I->M at 51: in dbSNP:rs3795875</li><li>K->N at 204: in a breast cancer sample; somatic mutation</li><li>TG->R at 329-330</li>									rs3795875	2
P07098	8513		<li>T->A at 161: in dbSNP:rs814628</li><li>F->I at 224: in dbSNP:rs6586145</li><li>P->T at 348: in dbSNP:rs17333991</li>									<li>rs814628</li><li>rs6586145</li><li>rs17333991</li>	2
P07099	2052		<li>R->T at 43: in dbSNP rsrs3738046</li><li>E->Q at 44</li><li>R->C at 49: in allele EPHX1*2; dbSNP:rs2234697</li><li>Y->H at 113: in allele EPHX1*3; 55% of wild type enzyme activity; dbSNP:rs1051740</li><li>H->R at 139: in allele EPHX1*4; 62% of wild type enzyme activity; dbSNP:rs2234922</li><li>L->P at 260: in allele EPHX1*1G</li><li>T->A at 275: in dbSNP:rs35073925</li><li>V->L at 285: in dbSNP rsrs45449793</li><li>T->I at 396: either a rare polymorphism or a sequencing error</li><li>T->M at 408: in dbSNP rsrs45495897</li><li>L->Q at 452: in dbSNP rsrs45563137</li><li>R->Q at 454: in allele EPHX1*5; dbSNP:rs2234701</li>							<li>P07099</li><li>P79381</li><li>P04068</li>		<li>rs45563137</li><li>rs2234697</li><li>rs45449793</li><li>rs35073925</li><li>rs3738046</li><li>rs2234922</li><li>rs1051740</li><li>rs2234701</li><li>rs45495897</li>	2
P07101	7054		<li>V->M at 112: common polymorphism; dbSNP:rs6356</li><li>R->H at 233: in ARDRD</li><li>L->P at 236: in ARDRD; severe parkinsonian symptoms in early infancy; strongly reduced stability and catalytic activity; rare mutation</li><li>T->P at 276: in ARDRD; parkinsonian symptoms in infancy; dbSNP:rs28934581</li><li>T->M at 314: in ARDRD; parkinsonian symptoms in infancy</li><li>R->H at 337: in ARDRD; parkinsonian symptoms in infancy; dbSNP:rs28934580</li><li>Q->K at 412: in ARDRD; reduced affinity for L-tyrosine</li><li>T->M at 494: in ARDRD; parkinsonian symptoms in infancy; dbSNP:rs45471299</li><li>V->M at 499: in dbSNP:rs1800033</li>			catalytic activity	GO:0003824					<li>rs1800033</li><li>rs45471299</li><li>rs28934581</li><li>rs28934580</li><li>rs6356</li>	2
P07108	1622		<li>D->N at 39: in dbSNP:rs8192504</li><li>M->V at 71: in dbSNP:rs8192506</li><li>G->R at 86: in dbSNP:rs8192507</li>									<li>rs8192504</li><li>rs8192507</li><li>rs8192506</li>	2
P07148	2168		<li>A->T at 54: in dbSNP:rs1801273</li><li>T->A at 94: in dbSNP:rs2241883</li>									<li>rs2241883</li><li>rs1801273</li>	2
P07195	3945		<li>K->E at 7: in LDHB deficiency; slightly decreased activity</li><li>A->E at 35: in LDHB deficiency</li><li>G->E at 69: in LDHB deficiency</li><li>R->W at 107: in GUA1; LDHB deficiency; inactive</li><li>S->R at 129: in LDHB deficiency</li><li>F->V at 171: in LDHB deficiency</li><li>R->H at 172: in LDHB deficiency; unstable</li><li>R->P at 172: in LDHB deficiency</li><li>M->L at 175: in LDHB deficiency</li><li>M->V at 175: in dbSNP:rs7966339</li><li>Missing  at 223: in LDHB deficiency</li><li>D->V at 322: in LDHB deficiency</li><li>W->R at 325: in LDHB deficiency</li>							<li>Q9XT86</li><li>P20373</li><li>P42122</li><li>Q5E9B1</li><li>P00336</li><li>P00337</li><li>Q98SK9</li><li>Q9P4B5</li><li>Q1EG91</li><li>Q9YGL2</li><li>P07195</li><li>P38625</li><li>Q9YI05</li><li>P13490</li><li>P13743</li><li>Q4R5B6</li><li>Q9PW05</li><li>Q9PW04</li><li>Q12658</li><li>Q9W7L4</li><li>Q98SL1</li><li>Q9PT42</li><li>P79913</li>		rs7966339	2
P07196	4747		<li>E->K at 7: in a Charcot-Marie-Tooth disease patient: in dbSNP rsrs57848467</li><li>P->L at 8: in CMT1F, MIM: 607734</li><li>P->Q at 8: in CMT1F, MIM: 607734</li><li>P->R at 8: in CMT2E and CMT1F; severely reduced nerve conduction velocities in some patients, MIM: 607684</li><li>P->S at 22: in CMT2E: in dbSNP rsrs28928910, MIM: 607684</li><li>E->K at 90: in CMT1F: in dbSNP rsrs58332872, MIM: 607734</li><li>N->S at 98: in CMT1F: in dbSNP rsrs58982919, MIM: 607734</li><li>Q->P at 332: in CMT2E: in dbSNP rsrs59443585, MIM: 607684</li><li>L->P at 336: in CMT2E, MIM: 607684</li><li>E->K at 396: in CMT1F: in dbSNP rsrs57105105, MIM: 607734</li><li>D->N at 468: in dbSNP rsrs57153321, MIM: 607734</li><li>Missing  at 527: in CMT1F, MIM: 607734</li>								<li>Charcot-Marie-Tooth disease type 2E (CMT2E) [MIM:607684]</li><li>Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734]</li>	<li>rs57153321</li><li>rs58332872</li><li>rs28928910</li><li>rs59443585</li><li>rs57105105</li><li>rs58982919</li><li>rs57848467</li>	2
P07202	7173		<li>A->P at 53: in CHDH2A, MIM: 274500</li><li>D->N at 240: in CHDH2A; loss of activity, MIM: 274500</li><li>A->S at 257: in dbSNP:rs4927611, MIM: 274500</li><li>N->T at 307: in CHDH2A, MIM: 274500</li><li>A->T at 326: in CHDH2A, MIM: 274500</li><li>A->S at 373: in dbSNP:rs2280132, MIM: 274500</li><li>E->K at 378: in CHDH2A, MIM: 274500</li><li>S->T at 398: in dbSNP:rs2175977, MIM: 274500</li><li>V->M at 433: in CHDH2A, MIM: 274500</li><li>I->F at 447: in CHDH2A, MIM: 274500</li><li>Y->D at 453: in CHDH2A, MIM: 274500</li><li>L->P at 458: in CHDH2A, MIM: 274500</li><li>R->H at 491: in CHDH2A, MIM: 274500</li><li>G->S at 493: in CHDH2A, MIM: 274500</li><li>P->L at 499: in CHDH2A, MIM: 274500</li><li>W->C at 527: in CHDH2A, MIM: 274500</li><li>G->C at 533: in CHDH2A; partial defect; expression slightly lower in efficiency and more degenerative than wild-type enzyme, MIM: 274500</li><li>Missing  at 574-575: in CHDH2A; partial defect; expressed on the plasma membrane surface at less than half the rate of wild-type enzyme, MIM: 274500</li><li>G->S at 590: in CHDH2A, MIM: 274500</li><li>V->M at 618: in dbSNP:rs10189135, MIM: 274500</li><li>R->Q at 648: in CHDH2A, MIM: 274500</li><li>Q->E at 660: in CHDH2A, MIM: 274500</li><li>R->W at 665: in CHDH2A; fails to localize to the plasma membrane, MIM: 274500</li><li>R->W at 693: in CHDH2A, MIM: 274500</li><li>M->V at 706: in dbSNP:rs13431173, MIM: 274500</li><li>T->P at 725: in dbSNP:rs732609, MIM: 274500</li><li>G->R at 771: in CHDH2A; fails to localize to the plasma membrane, MIM: 274500</li><li>L->P at 793: in dbSNP:rs28991293, MIM: 274500</li><li>D->Y at 796: in CHDH2A, MIM: 274500</li><li>E->K at 799: in CHDH2A, MIM: 274500</li><li>C->R at 808: in CHDH2A, MIM: 274500</li><li>V->I at 839: in CHDH2A, MIM: 274500</li><li>R->W at 846: in dbSNP:rs28913014, MIM: 274500</li><li>V->A at 847: in dbSNP:rs1126799, MIM: 274500</li>					plasma membrane	GO:0005886		Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	<li>rs4927611</li><li>rs2175977</li><li>rs1126799</li><li>rs2280132</li><li>rs13431173</li><li>rs10189135</li><li>rs28913014</li><li>rs28991293</li><li>rs732609</li>	2
P07203	2876		<li>R->P at 5: in dbSNP rsrs8179169</li><li>A->AA at 11</li><li>A->AAA at 11</li><li>A->T at 192</li><li>P->L at 198: in 30% of the population; associated with an increased risk of cancer; dbSNP:rs1050450</li>									rs8179169	2
P07204	7056		<li>A->T at 43: in dbSNP:rs1800576</li><li>G->A at 79: in dbSNP:rs1800577</li><li>A->P at 162: in dbSNP:rs36110902</li><li>A->V at 473: in dbSNP:rs1042579</li><li>D->Y at 486: in THR-THBDD: in dbSNP rsrs41348347, MIM: 188040</li><li>P->S at 495: in dbSNP:rs1800578, MIM: 188040</li><li>P->L at 501: in dbSNP:rs1800579, MIM: 188040</li>								Thrombophilia due to thrombomodulin defect (THR-THBDD) [MIM:188040]	<li>rs1042579</li><li>rs36110902</li><li>rs1800578</li><li>rs1800579</li><li>rs1800576</li><li>rs1800577</li><li>rs41348347</li>	2
P07288	354		<li>E->K at 32: in dbSNP:rs2271092</li><li>L->I at 132: in dbSNP:rs2003783</li><li>I->T at 179: in dbSNP:rs17632542</li>									<li>rs17632542</li><li>rs2003783</li><li>rs2271092</li>	2
P07315	1420		<li>T->P at 5: in CCL; interactions between Pro-5 mutants themselves were unchanged versus wild-type CRYGC indicating that homogeneous interaction sites or domains differ from those used in heterogeneous interactions, MIM: 604307</li><li>F->L at 6: in dbSNP:rs2242072, MIM: 604307</li><li>R->H at 48, MIM: 604307</li><li>R->W at 169: in cataract; congenital lamellar, MIM: 604307</li>							P07315	Coppock-like cataract (CCL) [MIM:604307]	rs2242072	2
P07316			<li>S->I at 73</li><li>R->T at 90: in dbSNP:rs2241980</li><li>L->I at 111: in dbSNP:rs796287</li>									<li>rs2241980</li><li>rs796287</li>	2
P07332	2242		<li>R->C at 85: in dbSNP rsrs56041861</li><li>R->Q at 246: in dbSNP rsrs34573430</li><li>M->V at 323: in dbSNP rsrs56296062</li>									<li>rs34573430</li><li>rs56041861</li><li>rs56296062</li>	2
P07333	1436		<li>V->G at 32: in dbSNP rsrs56048668</li><li>V->M at 279: in dbSNP:rs3829986</li><li>H->R at 362: in dbSNP:rs10079250</li><li>G->S at 413: in dbSNP rsrs34951517</li><li>L->V at 536: in dbSNP rsrs55942044</li><li>P->H at 693: in a lung squamous cell carcinoma sample; somatic mutation</li><li>E->D at 920: in dbSNP:rs34030164</li><li>R->Q at 921: in dbSNP rsrs56059682</li><li>Y->C at 969: in dbSNP:rs1801271</li>									<li>rs10079250</li><li>rs34030164</li><li>rs34951517</li><li>rs1801271</li><li>rs56059682</li><li>rs55942044</li><li>rs3829986</li><li>rs56048668</li>	2
P07339	1509		<li>A->V at 58: associated with increased risk in AD; possibly influences secretion and intracellular maturation; dbSNP:rs17571</li><li>F->I at 229: in CLN10, MIM: 610127</li><li>W->C at 383: in CLN10, MIM: 610127</li>	secretion	GO:0046903			intracellular	GO:0005622		Neuronal ceroid lipofuscinosis 10 (CLN10) [MIM:610127]	rs17571	2
P07357	731		<li>Q->K at 93: in allele C8A*B; dbSNP:rs652785</li><li>T->I at 407: in dbSNP:rs706479</li><li>D->N at 458: in dbSNP:rs17114555</li><li>R->L at 485: in dbSNP:rs1620075</li><li>E->Q at 561: in dbSNP:rs1342440</li><li>P->L at 575: in dbSNP:rs17300936</li>							<li>P98136</li><li>P07357</li>		<li>rs1620075</li><li>rs652785</li><li>rs17114555</li><li>rs706479</li><li>rs1342440</li><li>rs17300936</li>	2
P07358			<li>E->K at 108: in dbSNP:rs12067507</li><li>R->G at 117: in allotype C8B A; 5% of the population; dbSNP:rs1013579</li><li>P->L at 261: in dbSNP:rs12085435</li>							<li>P98137</li><li>P07358</li><li>Q90X85</li><li>Q9PVW7</li>		<li>rs12085435</li><li>rs12067507</li>	2
P07360	733		<li>R->Q at 69: in dbSNP:rs17614</li><li>D->G at 118: in dbSNP:rs7850844</li><li>H->N at 124: in dbSNP:rs17613</li>									<li>rs7850844</li><li>rs17614</li><li>rs17613</li>	2
P07384	823		<li>T->A at 103: in dbSNP:rs17885718</li><li>R->P at 433: in dbSNP:rs10895991</li><li>G->R at 492: in dbSNP:rs17883283</li><li>V->I at 676: in dbSNP:rs17884773</li>									<li>rs17883283</li><li>rs17885718</li><li>rs17884773</li><li>rs10895991</li>	2
P07451	761		<li>V->I at 31: in dbSNP:rs20571</li>									rs20571	2
P07476	3713		<li>T->A at 113: in dbSNP:rs2229496</li><li>L->P at 166: in dbSNP:rs11205133</li><li>K->E at 174: in dbSNP:rs12035307</li><li>E->Q at 237: in dbSNP:rs7520711</li><li>Q->K at 312: in dbSNP:rs11205137</li><li>V->L at 480: in dbSNP:rs7545520</li>									<li>rs11205133</li><li>rs2229496</li><li>rs11205137</li><li>rs12035307</li><li>rs7520711</li><li>rs7545520</li>	2
P07478	5645		<li>A->V at 117: in dbSNP:rs11547028</li>									rs11547028	2
P07492	2922		<li>S->R at 4: in dbSNP:rs1062557</li>									rs1062557	2
P07498	1448		<li>Y->C at 75: in dbSNP:rs17850702</li><li>R->L at 110: in dbSNP:rs1048152</li><li>A->T at 145: in dbSNP:rs3775739</li>									<li>rs1048152</li><li>rs17850702</li><li>rs3775739</li>	2
P07510	1146		<li>V->G at 107: in Escobar syndrome and multiple pterygium syndrome; lethal type, MIM: 265000</li><li>A->T at 149: in dbSNP:rs2289080, MIM: 265000</li><li>R->C at 239: in Escobar syndrome and multiple pterygium syndrome; lethal type, MIM: 265000</li>								Escobar syndrome [MIM:265000]	rs2289080	2
P07585	1634		<li>T->M at 268: in dbSNP:rs3138268</li><li>E->Q at 273: in dbSNP:rs1803344</li>									<li>rs3138268</li><li>rs1803344</li>	2
P07686	3074		<li>S->L at 62: in GM2G2; dbSNP:rs820878, MIM: 268800</li><li>K->R at 121: in dbSNP:rs11556045, MIM: 268800</li><li>I->V at 207: probable polymorphism; dbSNP:rs10805890, MIM: 268800</li><li>S->R at 255: in GM2G2, MIM: 268800</li><li>C->Y at 309: in GM2G2; adult type; severe; almost complete absence of activity, MIM: 268800</li><li>P->L at 417: in GM2G2: in dbSNP rsrs28942073, MIM: 268800</li><li>Y->S at 456: in GM2G2, MIM: 268800</li><li>P->S at 504: in GM2G2, MIM: 268800</li><li>R->Q at 505: in GM2G2, MIM: 268800</li><li>C->Y at 534: in GM2G2; infantile type, MIM: 268800</li><li>A->T at 543: in GM2G2, MIM: 268800</li>								GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	<li>rs10805890</li><li>rs820878</li><li>rs28942073</li><li>rs11556045</li>	2
P07741	353		<li>D->V at 65: in APRT deficiency; Icelandic type, MIM: 102600</li><li>L->P at 110: in APRT deficiency; Newfoundland type, MIM: 102600</li><li>Q->R at 121: in dbSNP:rs8191494, MIM: 102600</li><li>M->T at 136: in APRT deficiency; Japanese type; allele APRT*J; most common mutation; dbSNP:rs28999113, MIM: 102600</li><li>V->F at 150: in APRT deficiency, MIM: 102600</li><li>C->R at 153: in APRT deficiency, MIM: 102600</li><li>Missing  at 173: in APRT deficiency, MIM: 102600</li>							<li>Q7VKQ4</li><li>Q64414</li><li>Q8RAL9</li><li>Q884U6</li><li>Q7UR74</li><li>O42842</li><li>P07741</li><li>Q6F1J0</li><li>Q7V0X5</li><li>Q7NGZ0</li><li>Q5PFK3</li><li>P43856</li><li>P08030</li><li>O33174</li><li>Q92N62</li><li>Q8DZA4</li><li>Q88F33</li><li>Q63XK0</li><li>Q5YTF5</li><li>O87330</li><li>Q5LZD4</li><li>P54363</li><li>Q6LTE9</li><li>Q8P8F9</li><li>Q50637</li><li>Q5GZA0</li><li>Q5WHQ1</li><li>Q65U83</li><li>Q8XD48</li><li>Q7WEY7</li><li>Q7W089</li><li>Q74IU0</li><li>P47518</li><li>Q88VH0</li><li>Q87MQ1</li><li>Q04633</li><li>Q9ZLQ9</li><li>Q5ALX8</li><li>Q4QJV7</li><li>Q6BZF9</li><li>Q8Y2B9</li><li>Q8YNI3</li><li>Q9JYB4</li><li>Q9CHT5</li><li>Q7VAL5</li><li>Q8KLQ0</li><li>Q9HRT1</li><li>P52561</li><li>P68781</li><li>P68780</li><li>Q8A2N8</li><li>Q93AJ8</li><li>Q8RDM9</li><li>P47202</li><li>Q65GQ8</li><li>Q8EPR5</li><li>Q8EFG1</li><li>Q8E4W5</li><li>Q6N1B4</li><li>Q8FPL0</li><li>Q83M42</li><li>P68778</li><li>P68779</li><li>Q81LI1</li><li>Q8G6B5</li><li>Q74CZ3</li><li>Q5HFC8</li><li>Q64427</li><li>Q5QWS1</li><li>Q7N0N9</li><li>Q9KT52</li><li>Q6GG69</li><li>Q6MPK7</li><li>Q834G6</li><li>Q7TTW1</li><li>Q5UX13</li><li>Q634D6</li><li>Q71ZE6</li><li>Q8DT95</li><li>Q7V7D8</li><li>P91455</li><li>Q9JT95</li><li>Q7VGF2</li><li>Q5FJP9</li><li>Q5XCH4</li><li>P73935</li><li>Q892A7</li><li>Q7VRB8</li><li>Q59049</li><li>Q7M8W8</li><li>Q73M27</li><li>Q9RFQ2</li><li>Q9PQ02</li><li>Q5M3Y6</li><li>P57841</li><li>O31060</li><li>Q65ZZ7</li><li>P12426</li><li>Q6MTD4</li><li>Q8TXQ0</li><li>Q8DGH9</li><li>Q6G8T4</li><li>P47957</li><li>Q6CA53</li><li>P47958</li><li>O25296</li><li>P47952</li><li>Q730C4</li><li>Q5FSN7</li><li>Q8UD91</li><li>P47956</li><li>P59959</li><li>Q9PP06</li><li>Q8ZRA2</li><li>Q60AN2</li><li>Q827T5</li><li>Q5NII9</li><li>Q7MIV1</li><li>Q601D6</li><li>Q8CS95</li><li>Q66DQ2</li><li>Q6HDB8</li><li>Q650H6</li><li>Q6NGY0</li><li>Q89SB5</li><li>Q8EXN2</li><li>Q8EUA8</li><li>P63548</li><li>Q9RQF8</li><li>P63545</li><li>P63544</li><li>P63547</li><li>P63546</li><li>O34443</li><li>Q817X3</li><li>P75388</li><li>P63543</li><li>P63542</li><li>Q97GU0</li><li>Q8Z8T4</li><li>Q6A8K3</li><li>O51718</li><li>Q8PJY6</li><li>Q7W3L2</li><li>Q5KWS2</li><li>P36972</li><li>Q6D800</li><li>Q9KDH2</li><li>Q82XS2</li><li>Q5N1I0</li><li>Q741P3</li><li>Q98HV0</li><li>Q98QN9</li><li>Q5LNY7</li><li>Q756E2</li><li>P69503</li><li>Q7NRK9</li><li>O84001</li><li>P69504</li><li>Q8XJ22</li><li>Q5HNR6</li><li>Q5HUN2</li><li>Q6CWV0</li><li>Q6KI92</li><li>Q9X1A4</li><li>Q8DB25</li><li>Q75FP0</li><li>Q5E463</li><li>Q8KFM9</li><li>Q56JW4</li><li>Q67LM3</li><li>O27375</li><li>P0A2X6</li><li>P0A2X5</li><li>Q8ZC94</li><li>Q7NBS4</li>	APRT deficiency [MIM:102600]	<li>rs8191494</li><li>rs28999113</li>	2
P07814	2058		<li>A->P at 296: in dbSNP:rs35999099</li><li>E->D at 308: in dbSNP:rs2230301</li><li>H->Q at 334: in dbSNP:rs1063236</li><li>P->H at 893: in dbSNP:rs5030751</li><li>I->V at 1043: in dbSNP:rs5030752</li><li>S->F at 1107: in dbSNP:rs12144752</li><li>T->N at 1399: in dbSNP:rs34559775</li>									<li>rs5030752</li><li>rs35999099</li><li>rs5030751</li><li>rs12144752</li><li>rs2230301</li><li>rs34559775</li><li>rs1063236</li>	2
P07858	1508		<li>L->V at 26: in dbSNP:rs12338</li><li>S->G at 53: in dbSNP:rs1803250</li><li>P->L at 91: in dbSNP:rs11548596</li><li>S->N at 235: in dbSNP:rs17573</li>									<li>rs1803250</li><li>rs12338</li><li>rs17573</li><li>rs11548596</li>	2
P07864	3948		<li>E->Q at 285: in dbSNP:rs2230150</li>									rs2230150	2
P07902	2592		<li>D->Y at 28: in galactosemia, MIM: 230400</li><li>I->N at 32: in galactosemia; mild, MIM: 230400</li><li>Q->P at 38: in galactosemia, MIM: 230400</li><li>V->L at 44: in galactosemia, MIM: 230400</li><li>V->M at 44: in galactosemia; reduced enzyme activity, MIM: 230400</li><li>S->L at 45: in galactosemia, MIM: 230400</li><li>R->L at 51: in galactosemia, MIM: 230400</li><li>R->Q at 51: in galactosemia, MIM: 230400</li><li>G->C at 55: in galactosemia, MIM: 230400</li><li>L->M at 62: in dbSNP:rs1800461, MIM: 230400</li><li>R->C at 67: in galactosemia, MIM: 230400</li><li>L->P at 74: in galactosemia; reduced enzyme activity, MIM: 230400</li><li>A->T at 81: in galactosemia, MIM: 230400</li><li>N->S at 97: in galactosemia, MIM: 230400</li><li>D->N at 98: in galactosemia, MIM: 230400</li><li>D->N at 113: in galactosemia, MIM: 230400</li><li>H->L at 114: in galactosemia, MIM: 230400</li><li>F->S at 117: in galactosemia, MIM: 230400</li><li>Q->H at 118: in galactosemia, MIM: 230400</li><li>R->G at 123: in galactosemia, MIM: 230400</li><li>R->Q at 123: in galactosemia, MIM: 230400</li><li>V->A at 125: in galactosemia, MIM: 230400</li><li>K->E at 127: in galactosemia, MIM: 230400</li><li>M->T at 129: in galactosemia, MIM: 230400</li><li>C->Y at 130: in galactosemia, MIM: 230400</li><li>H->Y at 132: in galactosemia, MIM: 230400</li><li>S->L at 135: in galactosemia; frequent mutation in African Americans; about 5% of normal activity, MIM: 230400</li><li>S->W at 135: in galactosemia, MIM: 230400</li><li>T->M at 138: in galactosemia; mild, MIM: 230400</li><li>L->P at 139: in galactosemia, MIM: 230400</li><li>M->K at 142: in galactosemia; 4% of normal activity, MIM: 230400</li><li>M->V at 142: in galactosemia, MIM: 230400</li><li>S->L at 143: in galactosemia, MIM: 230400</li><li>R->G at 148: in galactosemia, MIM: 230400</li><li>R->Q at 148: in galactosemia, MIM: 230400</li><li>R->W at 148: in galactosemia; unstable protein, MIM: 230400</li><li>V->L at 150: in galactosemia, MIM: 230400</li><li>V->A at 151: in galactosemia; approximatively 3% of normal activity, MIM: 230400</li><li>W->G at 154: in galactosemia, MIM: 230400</li><li>W->R at 167: in galactosemia, MIM: 230400</li><li>F->S at 171: in galactosemia; reduced enzyme activity, MIM: 230400</li><li>G->D at 179: in galactosemia, MIM: 230400</li><li>P->T at 183: in galactosemia, MIM: 230400</li><li>H->Q at 184: in galactosemia, MIM: 230400</li><li>Q->R at 188: in galactosemia; most common mutation; accounts for approximately 70% of galactosemia alleles tested; 10% of normal activity, MIM: 230400</li><li>S->N at 192: in galactosemia, MIM: 230400</li><li>F->L at 194: in galactosemia, MIM: 230400</li><li>L->P at 195: in galactosemia; no enzymatic activity, MIM: 230400</li><li>I->M at 198: in galactosemia, MIM: 230400</li><li>I->T at 198: in galactosemia, MIM: 230400</li><li>A->T at 199: in galactosemia, MIM: 230400</li><li>R->H at 201: in galactosemia, MIM: 230400</li><li>E->K at 203: in galactosemia, MIM: 230400</li><li>R->P at 204: in galactosemia, MIM: 230400</li><li>Y->C at 209: in galactosemia, MIM: 230400</li><li>Y->S at 209: in galactosemia, MIM: 230400</li><li>Q->H at 212: in galactosemia, MIM: 230400</li><li>L->P at 217: in galactosemia, MIM: 230400</li><li>L->P at 226: in galactosemia, MIM: 230400</li><li>K->N at 229: in galactosemia, MIM: 230400</li><li>R->H at 231: in galactosemia; 15% of normal activity, MIM: 230400</li><li>W->R at 249: in galactosemia, MIM: 230400</li><li>Y->C at 251: in galactosemia, MIM: 230400</li><li>Y->S at 251: in galactosemia, MIM: 230400</li><li>Q->H at 252: in galactosemia, MIM: 230400</li><li>R->C at 258: in galactosemia, MIM: 230400</li><li>R->W at 259: in galactosemia; mild, MIM: 230400</li><li>R->P at 262: in galactosemia, MIM: 230400</li><li>Missing  at 263: in galactosemia, MIM: 230400</li><li>R->G at 272: in galactosemia, MIM: 230400</li><li>L->V at 282: in galactosemia, MIM: 230400</li><li>K->N at 285: in galactosemia; severe; 25-40% of the European population, MIM: 230400</li><li>L->R at 289: in galactosemia, MIM: 230400</li><li>E->K at 291: in galactosemia, MIM: 230400</li><li>F->Y at 294: in galactosemia, MIM: 230400</li><li>E->K at 308: in galactosemia, MIM: 230400</li><li>N->D at 314: in Duarte; exists in two different types, D-1 with normal or increased activity and D-2 with an activity reduced to about 35-45% of normal; dbSNP:rs2070074, MIM: 230400</li><li>Q->H at 317: in galactosemia, MIM: 230400</li><li>Q->R at 317: in galactosemia, MIM: 230400</li><li>H->Q at 319: in galactosemia, MIM: 230400</li><li>A->T at 320: in galactosemia, MIM: 230400</li><li>Y->D at 323: in galactosemia, MIM: 230400</li><li>Y->H at 323: in galactosemia, MIM: 230400</li><li>P->S at 324: in galactosemia, MIM: 230400</li><li>P->L at 325: in galactosemia, MIM: 230400</li><li>R->H at 328: in galactosemia, MIM: 230400</li><li>S->F at 329: in galactosemia, MIM: 230400</li><li>A->V at 330: in galactosemia; mild, MIM: 230400</li><li>R->G at 333: in galactosemia, MIM: 230400</li><li>R->Q at 333: in galactosemia, MIM: 230400</li><li>R->W at 333: in galactosemia; no enzymatic activity, MIM: 230400</li><li>K->R at 334: in galactosemia, MIM: 230400</li><li>M->L at 336: in galactosemia, MIM: 230400</li><li>Q->K at 344: in galactosemia, MIM: 230400</li><li>T->A at 350: in galactosemia; mild, MIM: 230400</li>								Galactosemia [MIM:230400]	<li>rs2070074</li><li>rs1800461</li>	2
P07911	7369		<li>C->Y at 77: in HNFJ, MIM: 162000</li><li>VCPEG->AASC at 93-97: in MCKD2, MIM: 162000</li><li>G->C at 103: in MCKD2: in dbSNP rsrs28934584, MIM: 603860</li><li>C->R at 126: in HNFJ, MIM: 162000</li><li>N->S at 128: in HNFJ, MIM: 162000</li><li>C->W at 148: in MCKD2/HNFJ; causes a dilay in protein export to the plasma membrane due to a longer retention time in the ER, MIM: 162000</li><li>C->Y at 148: in HNFJ: in dbSNP rsrs28934582, MIM: 162000</li><li>C->S at 150: in MCKD2/HNFJ; causes a dilay in protein export to the plasma membrane due to a longer retention time in the ER, MIM: 162000</li><li>C->R at 217: in HNFJ: in dbSNP rsrs28934583, MIM: 162000</li><li>C->Y at 223: in HNFJ, MIM: 162000</li><li>T->K at 225: in MCKD2, MIM: 603860</li><li>C->W at 248: in MCKD2, MIM: 603860</li><li>C->Y at 255: in HNFJ, MIM: 162000</li><li>C->G at 300: in HNFJ, MIM: 162000</li><li>C->R at 315: in glomerulocystic kidney disease; with hyperuricemia and isosthenuria; causes a dilay in protein export to the plasma membrane due to a longer retention time in the ER, MIM: 162000</li><li>C->Y at 317: in MCKD2/HNFJ; causes a dilay in protein export to the plasma membrane due to a longer retention time in the ER, MIM: 162000</li>					<li>plasma membrane</li><li>ER</li>	<li>GO:0005886</li><li>GO:0005783</li>		<li>Familial juvenile hyperuricemic nephropathy (HNFJ) [MIM:162000]</li><li>Medullary cystic kidney disease 2 (MCKD2) [MIM:603860]</li>	<li>rs28934584</li><li>rs28934583</li><li>rs28934582</li>	2
P07919	7388		<li>E->Q at 51: in dbSNP:rs34813470</li>									rs34813470	2
P07942	3912		<li>V->A at 670: in dbSNP:rs20555</li><li>G->S at 860: in dbSNP:rs35710474</li><li>R->Q at 1022: in dbSNP:rs20556</li>									<li>rs20556</li><li>rs20555</li><li>rs35710474</li>	2
P07947	7525		<li>I->V at 198: in dbSNP:rs34580680</li><li>K->R at 282: in dbSNP rsrs35126906</li>									<li>rs35126906</li><li>rs34580680</li>	2
P07948	4067		<li>D->Y at 385: in a breast pleomorphic lobular carcinoma sample; somatic mutation</li>										2
P07949	5979		<li>P->L at 20: in HSCR; sporadic form, MIM: 142623</li><li>S->L at 32: in HSCR; familial form, MIM: 142623</li><li>L->P at 40: in HSCR, MIM: 142623</li><li>P->L at 64: in HSCR; familial form, MIM: 142623</li><li>R->H at 67: in CCHS, MIM: 209880</li><li>R->C at 77: in HSCR, MIM: 142623</li><li>G->S at 93: in HSCR; could be a rare polymorphism, MIM: 142623</li><li>R->H at 114: in CCHS, MIM: 209880</li><li>C->S at 142: in HSCR; sporadic form, MIM: 142623</li><li>V->G at 145: in a colorectal cancer sample; somatic mutation, MIM: 142623</li><li>C->Y at 157: in HSCR; could be a polymorphism, MIM: 142623</li><li>R->Q at 163: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 142623</li><li>F->S at 174: in HSCR; sporadic form, MIM: 142623</li><li>R->P at 180: in HSCR; sporadic form, MIM: 142623</li><li>C->Y at 197: in HSCR; sporadic form, MIM: 142623</li><li>P->T at 198: in renal adysplasia; prevents phosphorylation in response to GDNF, MIM: 191830</li><li>R->H at 231: in HSCR; familial form, MIM: 142623</li><li>E->K at 251: in HSCR; familial form, MIM: 142623</li><li>T->N at 278: in dbSNP:rs35118262, MIM: 142623</li><li>R->Q at 287: in HSCR; sporadic form, MIM: 142623</li><li>V->M at 292: in dbSNP:rs34682185, MIM: 142623</li><li>R->Q at 313: in HSCR; sporadic form, MIM: 142623</li><li>R->Q at 330: in HSCR, MIM: 142623</li><li>N->K at 359: in HSCR; could be a polymorphism, MIM: 142623</li><li>R->W at 360: in HSCR, MIM: 142623</li><li>V->A at 376: in renal adysplasia; constitutively phosphorylated; expressed only the immature intracellular form, MIM: 191830</li><li>F->L at 393: in HSCR; familial form, MIM: 142623</li><li>N->H at 394: in renal adysplasia; prevents phosphorylation in response to GDNF, MIM: 191830</li><li>N->K at 394: in HSCR, MIM: 142623</li><li>P->L at 399: in HSCR; sporadic form, MIM: 142623</li><li>A->E at 432: in CCHS, MIM: 209880</li><li>R->Q at 475: in HSCR; sporadic form, MIM: 142623</li><li>D->N at 489: in dbSNP:rs9282834, MIM: 142623</li><li>C->CEEC at 531: in MTC; familial form, MIM: 142623</li><li>G->E at 593: in a colorectal cancer sample; somatic mutation, MIM: 142623</li><li>R->Q at 600: probably a rare polymorphism, MIM: 142623</li><li>C->G at 609: in MEN2A, MIM: 171400</li><li>C->R at 609: in MEN2A, MIM: 171400</li><li>C->W at 609: in HSCR; familial form, MIM: 142623</li><li>C->Y at 609: in MTC, MEN2A and HSCR; familial and sporadic forms, MIM: 171400</li><li>C->G at 611: in MTC; familial form, MIM: 155240</li><li>C->R at 611: in MEN2A, MIM: 171400</li><li>C->S at 611: in MEN2A, MIM: 171400</li><li>C->W at 611: in MEN2A and MTC; familial form, MIM: 171400</li><li>C->Y at 611: in MEN2A, MIM: 171400</li><li>C->F at 618: in MEN2A and MTC; familial form, MIM: 171400</li><li>C->G at 618: in MEN2A, MIM: 171400</li><li>C->R at 618: in MEN2A, MTC and HSCR, MIM: 171400</li><li>C->S at 618: in MEN2A, HSCR and MTC; familial and sporadic forms, MIM: 171400</li><li>C->Y at 618: in MEN2A and MTC; familial form, MIM: 171400</li><li>C->F at 620: in MEN2A and MTC; familial form, MIM: 171400</li><li>C->G at 620: in MEN2A and MTC; familial and sporadic forms, MIM: 171400</li><li>C->R at 620: in MEN2A, MTC and HSCR; familial and sporadic forms, MIM: 171400</li><li>C->S at 620: in MEN2A and MTC; familial form, MIM: 171400</li><li>C->W at 620: in MEN2A and HSCR, MIM: 171400</li><li>C->Y at 620: in MEN2A, MIM: 171400</li><li>Q->K at 626: in HSCR; sporadic form, MIM: 142623</li><li>C->F at 630: in MEN2A and MTC; familial form, MIM: 171400</li><li>C->S at 630: in MTC; sporadic form, MIM: 155240</li><li>C->Y at 630: in MTC; familial and sporadic forms, MIM: 155240</li><li>D->G at 631: in thyroid carcinoma; somatic mutation, MIM: 155240</li><li>ELC->DVR at 632-634: in MEN2A, MIM: 155240</li><li>CR->WG at 634-635: in MEN2A, MIM: 155240</li><li>C->CHELC at 634: in MEN2A, MIM: 155240</li><li>C->F at 634: in MEN2A and pheochromocytoma, MIM: 171300</li><li>C->G at 634: in MEN2A and pheochromocytoma, MIM: 171300</li><li>C->R at 634: in MEN2A, pheochromocytoma and MTC; familial form; also found as somatic mutation in a sporadic thyroid carcinoma, MIM: 171300</li><li>C->S at 634: in MEN2A, pheochromocytoma and MTC; familial form, MIM: 171300</li><li>C->W at 634: in MEN2A, pheochromocytoma and MTC; familial form, MIM: 171300</li><li>C->Y at 634: in MEN2A, pheochromocytoma and MTC; familial form, MIM: 171300</li><li>T->TCRT at 636: in MEN2A, MIM: 171300</li><li>A->G at 639: in MTC; sporadic form, MIM: 155240</li><li>A->G at 640: in MEN2A, MIM: 171400</li><li>A->G at 641: in MTC; sporadic form, MIM: 155240</li><li>S->P at 690: in HSCR; sporadic form, MIM: 142623</li><li>G->S at 691: in dbSNP:rs1799939, MIM: 142623</li><li>R->T at 749: in dbSNP:rs34288963, MIM: 142623</li><li>E->Q at 762: in HSCR; sporadic form, MIM: 142623</li><li>S->P at 765: in HSCR, MIM: 142623</li><li>S->R at 767: in HSCR; sporadic form, MIM: 142623</li><li>E->D at 768: in MTC; familial and sporadic forms, MIM: 155240</li><li>V->I at 778: in renal adysplasia; constitutively phosphorylated, MIM: 191830</li><li>L->F at 790: in MEN2A and MTC; familial form, MIM: 171400</li><li>Y->F at 791: in HSCR, pheochromocytoma, MTC and MEN2A; familial form, MIM: 171300</li><li>V->L at 804: in MTC; familial form, MIM: 155240</li><li>V->M at 804: in MTC; familial form, MIM: 155240</li><li>R->Q at 813: in HSCR; sporadic form, MIM: 142623</li><li>Y->S at 826: in dbSNP:rs34617196, MIM: 142623</li><li>R->L at 844: in MTC; familial form; dbSNP:rs55947360, MIM: 155240</li><li>R->Q at 873: in HSCR; sporadic form, MIM: 142623</li><li>A->F at 883: in MEN2B; somatic mutation in sporadic medullary thyroid carcinoma; requires 2 nucleotide substitutions, MIM: 162300</li><li>S->A at 891: in MTC; familial form, MIM: 155240</li><li>F->L at 893: in HSCR; sporadic form, MIM: 142623</li><li>G->S at 894: in renal adysplasia; constitutively phosphorylated; expressed only the immature intracellular form, MIM: 191830</li><li>R->Q at 897: in HSCR; sporadic form, MIM: 142623</li><li>K->E at 907: in HSCR; sporadic form, MIM: 142623</li><li>M->T at 918: in renal adysplasia, MEN2B and MTC; sporadic form; somatic mutation, MIM: 191830</li><li>E->K at 921: in HSCR; sporadic form, MIM: 142623</li><li>S->F at 922: in MTC; sporadic form, MIM: 155240</li><li>S->Y at 922: rare polymorphism, MIM: 155240</li><li>T->M at 946: in MEN2B and MTC; familial form, MIM: 162300</li><li>R->G at 972: in HSCR; familial form, MIM: 142623</li><li>P->L at 973: in HSCR; familial form, MIM: 142623</li><li>M->T at 980: in HSCR; sporadic form, MIM: 142623</li><li>R->C at 982: in dbSNP:rs17158558, MIM: 142623</li><li>P->L at 1039: in CCHS; with colonic aganglionosis, MIM: 209880</li><li>P->Q at 1039, MIM: 209880</li><li>P->L at 1049: in renal adysplasia; prevents phosphorylation in response to GDNF, MIM: 191830</li><li>Missing  at 1059: in HSCR, MIM: 191830</li><li>L->P at 1061: in HSCR, MIM: 142623</li><li>M->T at 1064: in HSCR; familial form, MIM: 142623</li><li>P->S at 1067: in renal adysplasia; prevents phosphorylation in response to GDNF, MIM: 191830</li><li>F->Y at 1112: in a bladder transitional cell carcinoma sample; somatic mutation, MIM: 191830</li>	phosphorylation	GO:0016310			intracellular	GO:0005622	<li>P67983</li><li>P67982</li><li>P39905</li>	<li>Congenital central hypoventilation syndrome (CCHS) [MIM:209880]</li><li>Hirschsprung disease (HSCR) [MIM:142623]</li><li>Medullary thyroid carcinoma (MTC) [MIM:155240]</li><li>Multiple neoplasia type 2A (MEN2A) [MIM:171400]</li><li>Multiple neoplasia type 2B (MEN2B) [MIM:162300]</li><li>Pheochromocytoma [MIM:171300]</li><li>Renal adysplasia [MIM:191830]</li>	<li>rs34617196</li><li>rs1799939</li><li>rs34288963</li><li>rs35118262</li><li>rs17158558</li><li>rs55947360</li><li>rs34682185</li><li>rs9282834</li>	2
P07951	7169		<li>R->G at 91: in DA1, MIM: 108120</li><li>E->A at 117: in NEM4, MIM: 609285</li><li>Q->P at 147: in NEM4, MIM: 609285</li><li>E->K at 273: in dbSNP:rs3180843, MIM: 609285</li>							P28861	<li>Nemaline myopathy type 4 (NEM4) [MIM:609285]</li><li>Distal arthrogryposis type 1 (DA1) [MIM:108120]</li>	rs3180843	2
P07954	2271		<li>N->T at 107: in MCUL1, MIM: 150800</li><li>A->P at 117: in MCUL1, MIM: 150800</li><li>H->R at 180: in MCUL1, MIM: 150800</li><li>Q->R at 185: in MCUL1, MIM: 150800</li><li>K->R at 230: in FD and MCUL1, MIM: 150800</li><li>R->H at 233: in MCUL1: in dbSNP rsrs28933069, MIM: 150800</li><li>G->V at 282: in MCUL1, MIM: 150800</li><li>A->T at 308: in FD, MIM: 606812</li><li>F->C at 312: in FD, MIM: 606812</li><li>M->R at 328: in HLRCC, MIM: 605839</li><li>D->V at 425: in FD, MIM: 606812</li>								<li>Fumarase deficiency (FD) [MIM:606812]</li><li>Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]</li><li>Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:605839]</li>	rs28933069	2
P07988	6439		<li>T->I at 131: in dbSNP:rs1130866</li><li>L->F at 176: in dbSNP:rs3024801</li><li>A->I at 228: requires 2 nucleotide substitutions</li><li>A->R at 228: requires 2 nucleotide substitutions</li><li>R->C at 236: in SMDP1, MIM: 265120</li><li>R->H at 272: in dbSNP:rs3024809, MIM: 265120</li>								Pulmonary surfactant metabolism dysfunction type 1 (SMDP1) [MIM:265120]	<li>rs3024801</li><li>rs1130866</li><li>rs3024809</li>	2
P07992	2067		<li>F->L at 231: in COFS4, MIM: 610758</li><li>A->T at 266: in dbSNP:rs3212977, MIM: 610758</li>								Cerebro-oculo-facio-skeletal syndrome type 4 (COFS4) [MIM:610758]	rs3212977	2
P07996	7057		<li>S->A at 24: in dbSNP:rs41515347</li><li>T->A at 523: in dbSNP:rs2292305</li><li>N->S at 700: in dbSNP:rs2228262</li>									<li>rs2292305</li><li>rs2228262</li><li>rs41515347</li>	2
P08034	2705		<li>W->R at 3: in CMTX1, MIM: 302800</li><li>W->S at 3: in CMTX1, MIM: 302800</li><li>YT->S at 7-8: in CMTX1, MIM: 302800</li><li>Y->C at 7: in CMTX1, MIM: 302800</li><li>T->I at 8: in CMTX1, MIM: 302800</li><li>T->P at 8: in CMTX1, MIM: 302800</li><li>L->W at 9: in CMTX1, MIM: 302800</li><li>S->G at 11: in CMTX1, MIM: 302800</li><li>G->S at 12: in CMTX1, MIM: 302800</li><li>V->L at 13: in CMTX1, MIM: 302800</li><li>V->M at 13: in CMTX1, MIM: 302800</li><li>N->K at 14: in CMTX1, MIM: 302800</li><li>R->Q at 15: in CMTX1, MIM: 302800</li><li>R->W at 15: in CMTX1; moderate, MIM: 302800</li><li>H->P at 16: in CMTX1, MIM: 302800</li><li>IG->NS at 20-21: in CMTX1, MIM: 302800</li><li>I->S at 20: in CMTX1, MIM: 302800</li><li>G->D at 21: in CMTX1, MIM: 302800</li><li>R->G at 22: in CMTX1; non-functional channel, MIM: 302800</li><li>R->P at 22: in CMTX1, MIM: 302800</li><li>R->Q at 22: in CMTX1; can be associated with Ile-63, MIM: 302800</li><li>V->A at 23: in CMTX1, MIM: 302800</li><li>W->C at 24: in CMTX1, MIM: 302800</li><li>L->F at 25: in CMTX1, MIM: 302800</li><li>L->P at 25: in CMTX1, MIM: 302800</li><li>S->L at 26: in CMTX1, MIM: 302800</li><li>S->W at 26: in CMTX1; severe, MIM: 302800</li><li>I->IIF at 28: in CMTX1, MIM: 302800</li><li>I->N at 28: in CMTX1, MIM: 302800</li><li>I->T at 28: in CMTX1, MIM: 302800</li><li>F->L at 29: in CMTX1, MIM: 302800</li><li>I->N at 30: in CMTX1, MIM: 302800</li><li>I->T at 30: in CMTX1, MIM: 302800</li><li>M->I at 34: in CMTX1; localized in the Golgi apparatus but also forming rare small junction-like plaques, MIM: 302800</li><li>M->K at 34: in CMTX1; localized to the endoplasmic reticulum, MIM: 302800</li><li>M->T at 34: in CMTX1; functional channel; localized in the Golgi apparatus without reaching the cell membrane, MIM: 302800</li><li>M->V at 34: in CMTX1; localized in the Golgi apparatus but also forming rare small gap junction-like plaques, MIM: 302800</li><li>V->M at 35: in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques, MIM: 302800</li><li>V->M at 37: in CMTX1; localized in the Golgi apparatus but also forming rare small gap junction-like plaques, MIM: 302800</li><li>V->M at 38: in CMTX1; localized in the Golgi apparatus without reaching the cell membrane, MIM: 302800</li><li>A->P at 39: in CMTX1, MIM: 302800</li><li>A->V at 39: in CMTX1, MIM: 302800</li><li>A->T at 40: in CMTX1; localized in the Golgi apparatus without reaching the cell membrane, MIM: 302800</li><li>A->V at 40: in CMTX1; localized in the Golgi apparatus without reaching the cell membrane, MIM: 302800</li><li>E->K at 41: in CMTX1, MIM: 302800</li><li>V->M at 43: in CMTX1, MIM: 302800</li><li>W->L at 44: in CMTX1, MIM: 302800</li><li>S->P at 49: in CMTX1, MIM: 302800</li><li>S->Y at 49: in CMTX1, MIM: 302800</li><li>S->P at 50: in CMTX1, MIM: 302800</li><li>C->S at 53: in CMTX1; suggests a failure to incorporate the mutant protein in the cell membrane, MIM: 302800</li><li>T->A at 55: in CMTX1, MIM: 302800</li><li>T->I at 55: in CMTX1, MIM: 302800</li><li>T->R at 55: in CMTX1, MIM: 302800</li><li>L->F at 56: in CMTX1; functional channel, MIM: 302800</li><li>Q->H at 57: in CMTX1, MIM: 302800</li><li>P->R at 58: in CMT-1, MIM: 302800</li><li>G->C at 59: in CMTX1, MIM: 302800</li><li>G->R at 59: in CMTX1, MIM: 302800</li><li>C->F at 60: in CMTX1; moderate, MIM: 302800</li><li>V->I at 63: in CMTX1; can be associated with Gln-22, MIM: 302800</li><li>C->F at 64: in CMTX1; moderate, MIM: 302800</li><li>C->S at 64: in CMTX1, MIM: 302800</li><li>Y->C at 65: in CMTX1, MIM: 302800</li><li>Y->H at 65: in CMTX1, MIM: 302800</li><li>Missing  at 66: in CMTX1, MIM: 302800</li><li>F->L at 69: in CMTX1, MIM: 302800</li><li>P->A at 70: in CMTX1, MIM: 302800</li><li>R->P at 75: in CMTX1; localized in the Golgi apparatus without reaching the cell membrane, MIM: 302800</li><li>R->Q at 75: in CMTX1; localized in the Golgi apparatus without reaching the cell membrane, MIM: 302800</li><li>R->W at 75: in CMTX1; localized in the Golgi apparatus without reaching the cell membrane, MIM: 302800</li><li>W->S at 77: in CMTX1, MIM: 302800</li><li>Q->R at 80: in CMTX1, MIM: 302800</li><li>L->F at 81: in CMTX1, MIM: 302800</li><li>L->P at 83: in CMTX1, MIM: 302800</li><li>V->I at 84: in CMTX1, MIM: 302800</li><li>S->C at 85: in CMTX1; mutant have a higher open probability than hemichannels formed of GJB1 wild-type, MIM: 302800</li><li>S->F at 85: in CMTX1, MIM: 302800</li><li>T->A at 86: in CMTX1; moderate, MIM: 302800</li><li>T->N at 86: in CMTX1, MIM: 302800</li><li>T->S at 86: in CMTX1, MIM: 302800</li><li>P->A at 87: in CMTX1, MIM: 302800</li><li>P->L at 87: in CMTX1, MIM: 302800</li><li>P->S at 87: in CMTX1, MIM: 302800</li><li>L->P at 89: in CMTX1, MIM: 302800</li><li>L->H at 90: in CMTX1, MIM: 302800</li><li>L->V at 90: in CMTX1, MIM: 302800</li><li>V->M at 91: in CMTX1, MIM: 302800</li><li>M->V at 93: in CMTX1, MIM: 302800</li><li>H->D at 94: in CMTX1, MIM: 302800</li><li>H->Q at 94: in CMTX1; non-functional channel, MIM: 302800</li><li>H->Y at 94: in CMTX1, MIM: 302800</li><li>V->M at 95: in CMTX1; non-functional channel, MIM: 302800</li><li>H->Y at 100: in CMTX1; mild/moderate, MIM: 302800</li><li>E->G at 102: in CMTX1; mild phenotype; increased sensitivity to acidification-induced closure, MIM: 302800</li><li>Missing  at 102: in CMTX1, MIM: 302800</li><li>K->E at 103: in CMTX1, MIM: 302800</li><li>K->T at 104: in CMTX1, MIM: 302800</li><li>R->W at 107: in CMTX1, MIM: 302800</li><li>L->P at 108: in CMTX1, MIM: 302800</li><li>Missing  at 111-116: in CMTX1, MIM: 302800</li><li>V->E at 120: in CMTX1, MIM: 302800</li><li>Missing  at 120: in CMTX1, MIM: 302800</li><li>K->N at 124: in CMTX1, MIM: 302800</li><li>V->D at 125: in CMTX1, MIM: 302800</li><li>H->Y at 126: in CMTX1, MIM: 302800</li><li>I->M at 127: in CMTX1, MIM: 302800</li><li>I->S at 127: in CMTX1, MIM: 302800</li><li>S->P at 128: in CMTX1, MIM: 302800</li><li>T->I at 130: in CMTX1, MIM: 302800</li><li>L->P at 131: in CMTX1, MIM: 302800</li><li>W->C at 133: in CMTX1; moderate, MIM: 302800</li><li>W->R at 133: in CMTX1, MIM: 302800</li><li>Y->C at 135: in CMTX1, MIM: 302800</li><li>V->A at 136: in CMTX1; demyelinating form; associated with W-359 in the EGR2 gene in a DSS Korean girl, MIM: 302800</li><li>S->N at 138: in CMTX1, MIM: 302800</li><li>V->M at 139: in CMTX1, MIM: 302800</li><li>F->L at 141: in CMTX1, MIM: 302800</li><li>R->E at 142: in CMTX1; requires 2 nucleotide substitutions, MIM: 302800</li><li>R->Q at 142: in CMTX1, MIM: 302800</li><li>R->W at 142: in CMTX1; moderate, MIM: 302800</li><li>Missing  at 143: in CMTX1, MIM: 302800</li><li>E->K at 146: in CMTX1, MIM: 302800</li><li>A->D at 147: in CMTX1, MIM: 302800</li><li>F->I at 149: in CMTX1, MIM: 302800</li><li>F->V at 149: in CMTX1; pathogenicity uncertain, MIM: 302800</li><li>Y->S at 151: in CMTX1, MIM: 302800</li><li>F->S at 153: in CMTX1, MIM: 302800</li><li>L->F at 156: in CMTX1, MIM: 302800</li><li>L->R at 156: in CMTX1, MIM: 302800</li><li>Y->C at 157: in CMTX1, MIM: 302800</li><li>P->A at 158: in CMTX1, MIM: 302800</li><li>P->R at 158: in CMTX1, MIM: 302800</li><li>P->S at 158: in CMTX1, MIM: 302800</li><li>G->D at 159: in CMTX1, MIM: 302800</li><li>G->S at 159: in CMTX1, MIM: 302800</li><li>Y->H at 160: in CMTX1, MIM: 302800</li><li>A->P at 161: in CMTX1, MIM: 302800</li><li>R->Q at 164: in CMTX1, MIM: 302800</li><li>R->W at 164: in CMTX1; moderate, MIM: 302800</li><li>C->R at 168: in CMTX1; demyelinating form, MIM: 302800</li><li>C->Y at 168: in CMTX1, MIM: 302800</li><li>P->A at 172: in CMTX1; suggests a failure to incorporate the mutant protein in the cell membrane, MIM: 302800</li><li>P->L at 172: in CMTX1, MIM: 302800</li><li>P->R at 172: in CMTX1, MIM: 302800</li><li>P->S at 172: in CMTX1, MIM: 302800</li><li>C->R at 173: in CMTX1, MIM: 302800</li><li>N->D at 175: in CMT-1, MIM: 302800</li><li>V->A at 177: in CMTX1, MIM: 302800</li><li>V->E at 177: in CMTX1, MIM: 302800</li><li>D->Y at 178: in CMTX1, MIM: 302800</li><li>C->R at 179: in CMTX1, MIM: 302800</li><li>F->L at 180: in CMTX1, MIM: 302800</li><li>F->S at 180: in CMTX1, MIM: 302800</li><li>V->A at 181: in CMTX1; profoundly impaired in their ability to support the earliest stages of regeneration of myelinated fibers, MIM: 302800</li><li>V->M at 181: in CMTX1, MIM: 302800</li><li>S->T at 182: in CMTX1, MIM: 302800</li><li>R->C at 183: in CMTX1, MIM: 302800</li><li>R->H at 183: in CMTX1, MIM: 302800</li><li>R->S at 183: in CMTX1, MIM: 302800</li><li>P->L at 184: in CMTX1, MIM: 302800</li><li>P->R at 184: in CMTX1, MIM: 302800</li><li>Missing  at 185: in CMTX1, MIM: 302800</li><li>E->K at 186: in CMTX1; non-functional channel, MIM: 302800</li><li>K->E at 187: in CMTX1, MIM: 302800</li><li>V->G at 189: in CMTX1, MIM: 302800</li><li>V->I at 189: in CMTX1, MIM: 302800</li><li>Missing  at 191-193: in CMTX1, MIM: 302800</li><li>T->A at 191: in CMTX1, MIM: 302800</li><li>V->F at 192: in CMTX1, MIM: 302800</li><li>F->C at 193: in CMTX1, MIM: 302800</li><li>F->L at 193: in CMTX1, MIM: 302800</li><li>M->V at 194: in CMTX1, MIM: 302800</li><li>S->F at 198: in CMTX1, MIM: 302800</li><li>G->R at 199: in CMTX1, MIM: 302800</li><li>C->R at 201: in CMTX1; severe, MIM: 302800</li><li>C->Y at 201: in CMTX1, MIM: 302800</li><li>I->N at 203: in CMTX1, MIM: 302800</li><li>L->F at 204: in CMTX1, MIM: 302800</li><li>L->V at 204: in CMTX1, MIM: 302800</li><li>N->I at 205: in CMTX1; localized to the endoplasmic reticulum, MIM: 302800</li><li>N->S at 205: in CMTX1; mild, MIM: 302800</li><li>E->G at 208: in CMTX1, MIM: 302800</li><li>E->K at 208: in CMTX1; non-detectable levels of hemichannel activation and non-detectable levels of electrical coupling, MIM: 302800</li><li>Missing  at 209: in CMTX1, MIM: 302800</li><li>Y->H at 211: in CMTX1, MIM: 302800</li><li>II->L at 213-214: in CMTX1, MIM: 302800</li><li>I->V at 213: in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques, MIM: 302800</li><li>R->Q at 215: in CMTX1; non-detectable levels of hemichannel activation and non-detectable levels of electrical coupling, MIM: 302800</li><li>R->W at 215: in CMTX1; mild/moderate; non-functional channel, MIM: 302800</li><li>R->C at 219: in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques, MIM: 302800</li><li>R->H at 219: in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques, MIM: 302800</li><li>R->G at 220: in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques, MIM: 302800</li><li>R->C at 230: in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques, MIM: 302800</li><li>R->L at 230: in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques, MIM: 302800</li><li>F->C at 235: in CMTX1; the mutation causes abnormal hemichannel opening with excessive permeability of the plasma membrane and decreased cell survival, MIM: 302800</li><li>R->H at 238: in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques, MIM: 302800</li><li>L->I at 239: in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques, MIM: 302800</li><li>R->C at 264: in CMTX1, MIM: 302800</li><li>C->G at 280: in CMTX1; forms channels normally, MIM: 302800</li>	acidification	GO:0045851			<li>Golgi apparatus</li><li>cell membrane</li><li>endoplasmic reticulum</li><li>gap junction</li>	<li>GO:0005794</li><li>GO:0005886</li><li>GO:0005783</li><li>GO:0005921</li>	<li>Q60HF7</li><li>O18968</li><li>P08034</li><li>P11161</li><li>P26635</li><li>P26634</li><li>Q6WGK6</li><li>P26633</li>	Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]		2
P08047	6667		<li>T->A at 737: in dbSNP:rs3741665</li>									rs3741665	2
P08100	6010		<li>T->K at 4: in RP4, MIM: 180380</li><li>N->S at 15: in RP4, MIM: 180380</li><li>T->M at 17: in RP4, MIM: 180380</li><li>P->H at 23: in RP4; most common variant, MIM: 180380</li><li>P->L at 23: in RP4, MIM: 180380</li><li>Q->H at 28: in RP4, MIM: 180380</li><li>L->R at 40: in RP4, MIM: 180380</li><li>M->T at 44: in RP4, MIM: 180380</li><li>F->L at 45: in RP4, MIM: 180380</li><li>L->R at 46: in RP4, MIM: 180380</li><li>G->A at 51: effect not known, MIM: 180380</li><li>G->R at 51: in RP4, MIM: 180380</li><li>G->V at 51: in RP4, MIM: 180380</li><li>P->R at 53: in RP4: in dbSNP rsrs28933395, MIM: 180380</li><li>T->R at 58: in RP4: in dbSNP rsrs28933394, MIM: 180380</li><li>Missing  at 68-71: in RP4, MIM: 180380</li><li>V->D at 87: in RP4, MIM: 180380</li><li>G->D at 89: in RP4, MIM: 180380</li><li>G->D at 90: in CSNBAD1, MIM: 610445</li><li>T->I at 94: in CSNBAD1, MIM: 610445</li><li>V->I at 104, MIM: 610445</li><li>G->R at 106: in RP4: in dbSNP rsrs28933994, MIM: 180380</li><li>G->W at 106: in RP4, MIM: 180380</li><li>G->R at 109: in RP4, MIM: 180380</li><li>C->F at 110: in RP4, MIM: 180380</li><li>C->Y at 110: in RP4, MIM: 180380</li><li>G->D at 114: in RP4, MIM: 180380</li><li>L->R at 125: in RP4, MIM: 180380</li><li>S->F at 127: in RP4, MIM: 180380</li><li>L->P at 131: in RP4, MIM: 180380</li><li>R->G at 135: in RP4, MIM: 180380</li><li>R->L at 135: in RP4, MIM: 180380</li><li>R->W at 135: in RP4, MIM: 180380</li><li>C->S at 140: in RP4, MIM: 180380</li><li>E->K at 150: in ARRP, MIM: 268000</li><li>A->E at 164: in RP4, MIM: 180380</li><li>A->V at 164: in RP4, MIM: 180380</li><li>C->R at 167: in RP4, MIM: 180380</li><li>P->L at 171: in RP4, MIM: 180380</li><li>P->Q at 171: in RP4, MIM: 180380</li><li>P->S at 171: in RP4, MIM: 180380</li><li>Y->C at 178: in RP4, MIM: 180380</li><li>Y->N at 178: in RP4, MIM: 180380</li><li>E->K at 181: in RP4, MIM: 180380</li><li>G->S at 182: in RP4, MIM: 180380</li><li>S->P at 186: in RP4, MIM: 180380</li><li>G->E at 188: in RP4, MIM: 180380</li><li>G->R at 188: in RP4, MIM: 180380</li><li>D->G at 190: in RP4, MIM: 180380</li><li>D->N at 190: in RP4: in dbSNP rsrs28933992, MIM: 180380</li><li>D->Y at 190: in RP4: in dbSNP rsrs28933992, MIM: 180380</li><li>M->R at 207: in RP4: in dbSNP rsrs28933995, MIM: 180380</li><li>V->M at 209: effect not known, MIM: 180380</li><li>H->P at 211: in RP4: in dbSNP rsrs28933993, MIM: 180380</li><li>H->R at 211: in RP4, MIM: 180380</li><li>M->K at 216: in RP4, MIM: 180380</li><li>F->C at 220: in RP4, MIM: 180380</li><li>C->R at 222: in RP4, MIM: 180380</li><li>Missing  at 255: in RP4, MIM: 180380</li><li>Missing  at 264: in RP4, MIM: 180380</li><li>P->L at 267: in RP4, MIM: 180380</li><li>P->R at 267: in RP4, MIM: 180380</li><li>A->E at 292: in CSNBAD1, MIM: 610445</li><li>K->E at 296: in RP4: in dbSNP rsrs29001653, MIM: 180380</li><li>S->R at 297: in RP4, MIM: 180380</li><li>T->M at 342: in RP4, MIM: 180380</li><li>V->L at 345: in RP4, MIM: 180380</li><li>V->M at 345: in RP4, MIM: 180380</li><li>P->A at 347: in RP4, MIM: 180380</li><li>P->L at 347: in RP4; common variant: in dbSNP rsrs29001566, MIM: 180380</li><li>P->Q at 347: in RP4, MIM: 180380</li><li>P->R at 347: in RP4: in dbSNP rsrs29001566, MIM: 180380</li><li>P->S at 347: in RP4: in dbSNP rsrs29001637, MIM: 180380</li>							<li>P05749</li><li>P41042</li>	<li>Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]</li><li>Retinitis pigmentosa type 4 (RP4) [MIM:180380]</li><li>Congenital stationary night blindness autosomal dominant type 1 (CSNBAD1) [MIM:610445]</li>	<li>rs28933992</li><li>rs28933993</li><li>rs28933994</li><li>rs28933395</li><li>rs29001653</li><li>rs28933995</li><li>rs28933394</li><li>rs29001637</li><li>rs29001566</li>	2
P08107	3303		<li>I->V at 95</li><li>E->D at 110: in dbSNP:rs17856061 and dbSNP:rs562047</li><li>A->V at 467</li><li>N->S at 499: in dbSNP:rs17855850 and dbSNP:rs483638</li>									<li>rs17855850 and dbSNP:rs483638</li><li>rs17856061 and dbSNP:rs562047</li>	2
P08118	4477		<li>L->S at 17: in dbSNP:rs1804776</li><li>I->M at 25: in dbSNP:rs1804778</li><li>W->R at 52: in dbSNP:rs1804780</li><li>Q->R at 53: in dbSNP:rs1804468</li><li>D->A at 80: in dbSNP:rs1802774</li><li>I->T at 87: in dbSNP:rs1802771</li><li>E->G at 91: in dbSNP:rs1804469</li><li>D->G at 92: in dbSNP:rs1804461</li><li>V->L at 98: in dbSNP:rs1804464</li>									<li>rs1804461</li><li>rs1802771</li><li>rs1804780</li><li>rs1804464</li><li>rs1802774</li><li>rs1804468</li><li>rs1804776</li><li>rs1804469</li><li>rs1804778</li>	2
P08123	1278		<li>T->P at 59: in dbSNP:rs1800221</li><li>Missing  at 76-93: in EDS7B</li><li>Missing  at 181-198: in OI-IV</li><li>G->D at 211: in OI-I, MIM: 166200</li><li>I->N at 249: in dbSNP:rs1800228, MIM: 166200</li><li>V->I at 270: in dbSNP:rs368468, MIM: 166200</li><li>A->T at 276: in dbSNP:rs1800231, MIM: 166200</li><li>G->S at 328: in OI-III, MIM: 259420</li><li>G->D at 331: in OI-III, MIM: 259420</li><li>G->C at 334: in OI-II, MIM: 166210</li><li>G->C at 337: in OI-III, MIM: 259420</li><li>G->S at 337: in OI-I, MIM: 166200</li><li>Missing  at 345: in OI-III, MIM: 166200</li><li>G->C at 349: in OI-III, MIM: 259420</li><li>G->V at 409: in OI-II, MIM: 166210</li><li>G->E at 433: in OI-II, MIM: 166210</li><li>G->S at 460: in OI-III, MIM: 259420</li><li>A->V at 483: in dbSNP:rs414408, MIM: 259420</li><li>G->D at 511: in OI-II, MIM: 166210</li><li>G->R at 517: in OI-III, MIM: 259420</li><li>N->S at 528: in dbSNP:rs41317144, MIM: 259420</li><li>G->R at 547: in OI-II, MIM: 166210</li><li>A->P at 549: in dbSNP:rs42524, MIM: 166210</li><li>G->C at 562: in OI-II, MIM: 166210</li><li>A->T at 564: in dbSNP:rs41317153, MIM: 166210</li><li>G->R at 586: in OI-II, MIM: 166210</li><li>G->S at 592: in OI-II, MIM: 166210</li><li>G->V at 634: in OI-IV, MIM: 166220</li><li>G->D at 637: in OI-II, MIM: 166210</li><li>G->S at 640: in OI-II, MIM: 166210</li><li>G->D at 670: in OI-II, MIM: 166210</li><li>Missing  at 676-855: in OI-II, MIM: 166210</li><li>G->V at 676: in OI-III and OI-IV, MIM: 166220</li><li>P->H at 678: in dbSNP:rs409108, MIM: 166220</li><li>R->Q at 708: in Marfan syndrome, MIM: 166220</li><li>G->D at 715: in OI-II, MIM: 166210</li><li>G->C at 730: in OI-II, MIM: 166210</li><li>G->C at 736: in OI-I; mild, MIM: 166200</li><li>A->G at 743: in dbSNP:rs408535, MIM: 166200</li><li>G->S at 751: in OI-IV, MIM: 166220</li><li>G->R at 754: in OI-II, MIM: 166210</li><li>G->V at 766: in OI-IV, MIM: 166220</li><li>G->S at 778: in OI-II, MIM: 166210</li><li>G->R at 784: in OI-II, MIM: 166210</li><li>G->C at 787: in OI-II, MIM: 166210</li><li>G->D at 790: in OI-II, MIM: 166210</li><li>G->S at 796: in OI-II, MIM: 166210</li><li>R->H at 822: in dbSNP:rs1800240, MIM: 166210</li><li>G->S at 835: in OI-I, MIM: 166200</li><li>G->C at 877: in OI-II, MIM: 166210</li><li>G->D at 892: in OI-III and OI-IV, MIM: 166220</li><li>G->D at 895: in OI-II, MIM: 166210</li><li>G->S at 949: in OI-III; moderate, MIM: 259420</li><li>G->S at 955: in OI-II, MIM: 166210</li><li>G->V at 973: in OI-III, MIM: 259420</li><li>G->D at 997: in OI-II, MIM: 166210</li><li>G->S at 1012: in OI-IV; moderate, MIM: 166220</li><li>L->F at 1022: in dbSNP:rs392609, MIM: 166220</li><li>G->D at 1066: in OI-II, MIM: 166210</li><li>G->C at 1078: in OI-II, MIM: 166210</li><li>G->A at 1096: in OI-III, MIM: 259420</li><li>P->L at 1101, MIM: 259420</li><li>G->R at 1102: in OI-IV, MIM: 166220</li><li>T->P at 1148: in OI-III; dbSNP:rs1800250, MIM: 259420</li><li>D->E at 1189: in dbSNP:rs422361, MIM: 259420</li><li>S->P at 1198: in dbSNP:rs384487, MIM: 259420</li><li>Q->H at 1354: in dbSNP:rs418570, MIM: 259420</li>								<li>Osteogenesis imperfecta type I (OI-I) [MIM:166200]</li><li>Osteogenesis imperfecta type II (OI-II) [MIM:166210]</li><li>Osteogenesis imperfecta type IV (OI-IV) [MIM:166220]</li><li>Osteogenesis imperfecta type III (OI-III) [MIM:259420]</li>	<li>rs1800221</li><li>rs1800231</li><li>rs368468</li><li>rs384487</li><li>rs41317144</li><li>rs41317153</li><li>rs392609</li><li>rs1800240</li><li>rs1800250</li><li>rs414408</li><li>rs409108</li><li>rs42524</li><li>rs408535</li><li>rs1800228</li><li>rs418570</li><li>rs422361</li>	2
P08134	389		<li>D->H at 120: in dbSNP:rs11538959</li>									rs11538959	2
P08138	4804		<li>S->L at 205: in dbSNP:rs2072446</li>									rs2072446	2
P08151	2735		<li>P->A at 210: in a breast cancer sample; somatic mutation</li><li>T->I at 514: in a breast cancer sample; somatic mutation</li><li>E->Q at 817: in a breast cancer sample; somatic mutation</li><li>D->A at 884</li><li>G->D at 933: in dbSNP:rs2228224</li><li>G->V at 1012: in dbSNP:rs2229300</li><li>E->Q at 1100: in dbSNP:rs2228226</li>									<li>rs2228226</li><li>rs2228224</li><li>rs2229300</li>	2
P08174	1604		<li>R->L at 52: in Tc: in dbSNP rsrs28371588</li><li>R->P at 52: in Tc</li><li>L->R at 82: in WES</li><li>S->L at 199: in Dr: in dbSNP rsrs56283594</li><li>A->P at 227: in Cr: in dbSNP rsrs60822373</li><li>R->H at 240: in GUTI</li>									<li>rs60822373</li><li>rs56283594</li><li>rs28371588</li>	2
P08183	5243		<li>F->L at 17: in dbSNP rsrs28381804</li><li>N->D at 21: in dbSNP:rs1805053</li><li>F->L at 103: rare polymorphism</li><li>E->K at 108</li><li>G->V at 185: in a colchicine-selected multidrug-resistant cell line; confers increased resistance to colchicine: in dbSNP rsrs1128501</li><li>S->N at 400: in dbSNP rsrs2229109</li><li>E->K at 566: in dbSNP rsrs28381902</li><li>R->C at 593: in dbSNP rsrs28381914</li><li>I->V at 836: in dbSNP rsrs28381967</li><li>K->N at 887: in a colorectal cancer sample; somatic mutation</li><li>A->S at 893: in dbSNP:rs2032582</li><li>A->T at 893: in dbSNP:rs2032582</li><li>M->V at 986</li><li>A->T at 999</li><li>P->A at 1051: in dbSNP rsrs28401798</li><li>Q->P at 1107: in dbSNP rsrs55852620</li><li>S->T at 1141: in dbSNP rsrs2229107</li><li>V->I at 1251: in dbSNP rsrs28364274</li>									<li>rs28381804</li><li>rs28381967</li><li>rs55852620</li><li>rs28364274</li><li>rs28401798</li><li>rs2229109</li><li>rs2229107</li><li>rs2032582</li><li>rs28381902</li><li>rs1805053</li><li>rs1128501</li><li>rs28381914</li>	2
P08185	866		<li>L->H at 115: in CBG deficiency; Leuven; decreased cortisol-binding affinity; dbSNP:rs28929488, MIM: 611489</li><li>S->A at 246: in dbSNP:rs2228541, MIM: 611489</li><li>D->N at 389: in CBG deficiency; Lyon; decreased cortisol-binding affinity: in dbSNP rsrs28929488, MIM: 611489</li>			binding	GO:0005488			<li>Q60543</li><li>P23775</li><li>Q9H227</li><li>P08185</li><li>P50451</li><li>P49920</li><li>Q5RF65</li><li>Q06770</li><li>P31211</li><li>Q5R9E3</li>	Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	<li>rs2228541</li><li>rs28929488</li>	2
P08217	63036		<li>N->S at 257: in dbSNP:rs2303193</li>									rs2303193	2
P08218			<li>G->R at 79: in dbSNP:rs3820071</li><li>D->N at 114: in dbSNP:rs3766160</li><li>Q->R at 177: in dbSNP:rs6429745</li><li>G->S at 235: in dbSNP:rs3737703</li>									<li>rs3820071</li><li>rs3737703</li><li>rs6429745</li><li>rs3766160</li>	2
P08236	2990		<li>C->G at 38: in MPS7; very mild phenotype, MIM: 253220</li><li>S->F at 52: in MPS7; loss of activity, MIM: 253220</li><li>G->R at 136: in MPS7, MIM: 253220</li><li>P->S at 148: in MPS7, MIM: 253220</li><li>E->K at 150: in MPS7, MIM: 253220</li><li>D->N at 152: reduced activity levels without apparent pathogenic consequences, MIM: 253220</li><li>L->F at 176: in MPS7, MIM: 253220</li><li>R->W at 216: in MPS7, MIM: 253220</li><li>Y->C at 320: in MPS7, MIM: 253220</li><li>Y->S at 320: in MPS7, MIM: 253220</li><li>K->N at 350: in MPS7, MIM: 253220</li><li>H->Y at 351: in MPS7, MIM: 253220</li><li>A->V at 354: in MPS7, MIM: 253220</li><li>R->C at 374: in MPS7, MIM: 253220</li><li>R->C at 382: in MPS7, MIM: 253220</li><li>R->H at 382: in MPS7, MIM: 253220</li><li>P->S at 408: in MPS7, MIM: 253220</li><li>P->L at 415: in MPS7, MIM: 253220</li><li>R->P at 435: in MPS7, MIM: 253220</li><li>R->W at 477: in MPS7, MIM: 253220</li><li>Y->C at 495: in MPS7, MIM: 253220</li><li>Y->C at 508: in MPS7, MIM: 253220</li><li>G->D at 572: in MPS7, MIM: 253220</li><li>R->L at 577: in MPS7; loss of activity, MIM: 253220</li><li>K->N at 606: in MPS7, MIM: 253220</li><li>R->W at 611: in MPS7, MIM: 253220</li><li>A->V at 619: in MPS7, MIM: 253220</li><li>Y->H at 626: in MPS7; very mild phenotype, MIM: 253220</li><li>W->C at 627: in MPS7, MIM: 253220</li><li>L->P at 649: in dbSNP:rs9530, MIM: 253220</li>								Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	rs9530	2
P08237	5213		<li>R->L at 39: in GSD7; Ashkenazi, MIM: 232800</li><li>R->P at 39: in GSD7; Italian, MIM: 232800</li><li>R->Q at 100: in GSD7; Swiss; dbSNP:rs2228500, MIM: 232800</li><li>G->D at 209: in GSD7; French Canadian, MIM: 232800</li><li>D->A at 543: in GSD7; Italian, MIM: 232800</li><li>W->C at 686: in GSD7; Japanese, MIM: 232800</li><li>R->H at 696: in GSD7; Swiss; dbSNP:rs41291971, MIM: 232800</li>								Glycogen storage disease type 7 (GSD7) [MIM:232800]	<li>rs41291971</li><li>rs2228500</li>	2
P08238	3326		<li>K->E at 349: in dbSNP:rs11538975</li>									rs11538975	2
P08246	1991		<li>G->V at 32: in CH, MIM: 162800</li><li>C->Y at 55: in GFI1, MIM: 162800</li><li>A->T at 57: in GFI1, MIM: 162800</li><li>I->T at 60: in GFI1, MIM: 162800</li><li>C->R at 71: in GFI1: in dbSNP rsrs28931611, MIM: 162800</li><li>C->S at 71: in GFI1, MIM: 162800</li><li>G->E at 85: in GFI1, MIM: 162800</li><li>V->L at 98: in GFI1; located on the same allele as L-101; reduces proteolytic enzyme activity by slightly less than half; together with L-101 shows an additive effect with minimal remaining enzyme activity, MIM: 162800</li><li>V->L at 101: in GFI1; located on the same allele as L-98; reduces proteolytic enzyme activity by slightly less than half; together with L-98 shows an additive effect with minimal remaining enzyme activity, MIM: 162800</li><li>V->M at 101: in GFI1: in dbSNP rsrs28929494, MIM: 162800</li><li>L->PQL at 123: in GFI1, MIM: 162800</li><li>S->L at 126: in GFI1, MIM: 162800</li><li>P->L at 139: in GFI1: in dbSNP rsrs28929493, MIM: 162800</li><li>C->S at 151: in GFI1, MIM: 162800</li><li>V->F at 177: in CH, MIM: 162800</li><li>Missing  at 190-199: in GFI1, MIM: 162800</li><li>R->Q at 191: in CH; loss of interaction with NOTCH2NL and loss of NOTCH2NL and NOTCH2 proteolytic cleavage, MIM: 162800</li><li>P->R at 205: in GFI1, MIM: 162800</li><li>G->V at 210: in GFI1, MIM: 162800</li><li>G->R at 214: in GFI1, MIM: 162800</li><li>V->I at 219: in dbSNP:rs17216656, MIM: 162800</li><li>P->L at 257: in dbSNP:rs17216663, MIM: 162800</li><li>P->L at 262: in dbSNP:rs17216670, MIM: 162800</li>							<li>Q04721</li><li>Q99684</li><li>Q5DWN0</li>	Cyclic haematopoiesis (CH) [MIM:162800]	<li>rs17216670</li><li>rs28929493</li><li>rs28929494</li><li>rs17216656</li><li>rs17216663</li><li>rs28931611</li>	2
P08253	4313		<li>R->H at 101: in Torg-Winchester syndrome, MIM: 605156</li><li>D->Y at 210, MIM: 605156</li><li>A->T at 228: in a colorectal cancer sample; somatic mutation, MIM: 605156</li><li>Missing  at 400: in Torg-Winchester syndrome, MIM: 605156</li><li>E->K at 404: in Torg-Winchester syndrome, MIM: 277950</li><li>A->V at 447: in dbSNP:rs17859943, MIM: 277950</li><li>T->M at 498: in a colorectal cancer sample; somatic mutation, MIM: 277950</li><li>V->L at 621: in dbSNP:rs16955280, MIM: 277950</li><li>S->I at 644: in a colorectal cancer sample; somatic mutation, MIM: 277950</li>								<li>Winchester syndrome [MIM:277950]</li><li>Multicentric osteolysis nodulosis and arthropathy (MONA) [MIM:605156]</li>	<li>rs17859943</li><li>rs16955280</li>	2
P08254	4314		<li>K->E at 45: in dbSNP:rs679620</li>									rs679620	2
P08263	2938		<li>T->I at 19: in dbSNP:rs1051578</li><li>P->Q at 113: in dbSNP:rs1051745</li><li>K->Q at 117: in dbSNP:rs1051757</li>									<li>rs1051745</li><li>rs1051757</li><li>rs1051578</li>	2
P08294	6649		<li>A->T at 58: in dbSNP:rs2536512</li><li>A->T at 91: in dbSNP:rs17879876</li><li>R->G at 231: in dbSNP:rs1799895</li>									<li>rs2536512</li><li>rs1799895</li><li>rs17879876</li>	2
P08311	1511		<li>N->S at 125: in dbSNP rsrs45567233</li>									rs45567233	2
P08319	127		<li>V->I at 309: in dbSNP rsrs1126671</li><li>R->H at 318: in dbSNP rsrs29001219</li><li>I->V at 374: in dbSNP rsrs1126673</li>									<li>rs1126673</li><li>rs1126671</li><li>rs29001219</li>	2
P08397	3145		<li>M->I at 18: in AIP, MIM: 176000</li><li>R->C at 22: in AIP, MIM: 176000</li><li>G->S at 24: in AIP, MIM: 176000</li><li>R->C at 26: in AIP, MIM: 176000</li><li>R->H at 26: in AIP, MIM: 176000</li><li>S->N at 28: in AIP, MIM: 176000</li><li>A->P at 31: in AIP, MIM: 176000</li><li>A->T at 31: in AIP, MIM: 176000</li><li>Q->K at 34: in AIP, MIM: 176000</li><li>Q->P at 34: in AIP; less than 3% of activity, MIM: 176000</li><li>Q->R at 34: in AIP, MIM: 176000</li><li>T->M at 35: in AIP, MIM: 176000</li><li>L->S at 42: in AIP, MIM: 176000</li><li>A->S at 55: in AIP, MIM: 176000</li><li>D->N at 61: in AIP, MIM: 176000</li><li>D->Y at 61: in AIP, MIM: 176000</li><li>T->P at 78: in AIP, MIM: 176000</li><li>E->G at 80: in AIP, MIM: 176000</li><li>L->P at 81: in AIP, MIM: 176000</li><li>L->R at 85: in AIP, MIM: 176000</li><li>E->V at 86: in AIP, MIM: 176000</li><li>V->G at 90: in AIP, MIM: 176000</li><li>L->P at 92: in AIP, MIM: 176000</li><li>V->F at 93: in AIP; loss of activity, MIM: 176000</li><li>Missing  at 93: in AIP, MIM: 176000</li><li>S->F at 96: in AIP, MIM: 176000</li><li>K->R at 98: in AIP, MIM: 176000</li><li>D->G at 99: in AIP, MIM: 176000</li><li>D->H at 99: in AIP, MIM: 176000</li><li>D->N at 99: in AIP, MIM: 176000</li><li>G->R at 111: in AIP, MIM: 176000</li><li>I->T at 113: in AIP, MIM: 176000</li><li>R->Q at 116: in AIP, MIM: 176000</li><li>R->W at 116: in AIP; loss of activity, MIM: 176000</li><li>P->L at 119: in AIP, MIM: 176000</li><li>A->G at 122: in AIP, MIM: 176000</li><li>V->D at 124: in AIP, MIM: 176000</li><li>R->L at 149: in AIP, MIM: 176000</li><li>R->Q at 149: in AIP, MIM: 176000</li><li>Missing  at 152: in AIP, MIM: 176000</li><li>R->Q at 167: in AIP, MIM: 176000</li><li>R->W at 167: in AIP, MIM: 176000</li><li>R->Q at 173: in AIP; 0.6% of wild-type activity, MIM: 176000</li><li>R->W at 173: in AIP, MIM: 176000</li><li>L->R at 177: in AIP, MIM: 176000</li><li>D->N at 178: in AIP, MIM: 176000</li><li>R->C at 195: in AIP: in dbSNP rsrs34413634, MIM: 176000</li><li>R->W at 201: in AIP; residual activity, MIM: 176000</li><li>V->L at 202: in AIP, MIM: 176000</li><li>E->K at 209: in AIP, MIM: 176000</li><li>M->V at 212: in AIP; <2% residual activity, MIM: 176000</li><li>G->D at 216: in AIP, MIM: 176000</li><li>Q->H at 217: in AIP, MIM: 176000</li><li>Q->L at 217: in AIP, MIM: 176000</li><li>A->D at 219: in AIP, MIM: 176000</li><li>V->M at 222: in AIP, MIM: 176000</li><li>E->K at 223: in AIP, MIM: 176000</li><li>R->G at 225: in AIP, MIM: 176000</li><li>R->Q at 225: in AIP, MIM: 176000</li><li>G->S at 236: in AIP, MIM: 176000</li><li>L->R at 238: in AIP, MIM: 176000</li><li>L->P at 244: in AIP, MIM: 176000</li><li>L->R at 245: in AIP, MIM: 176000</li><li>C->F at 247: in AIP; residual activity, MIM: 176000</li><li>C->R at 247: in AIP, MIM: 176000</li><li>I->IETLLRCI at 248: in AIP, MIM: 176000</li><li>E->A at 250: in AIP, MIM: 176000</li><li>E->K at 250: in AIP, MIM: 176000</li><li>E->Q at 250: in AIP, MIM: 176000</li><li>E->V at 250: in AIP, MIM: 176000</li><li>A->T at 252: in AIP, MIM: 176000</li><li>A->V at 252: in AIP, MIM: 176000</li><li>L->P at 254: in AIP, MIM: 176000</li><li>H->N at 256: in AIP, MIM: 176000</li><li>H->Y at 256: in AIP, MIM: 176000</li><li>G->D at 260: in AIP, MIM: 176000</li><li>C->Y at 261: in AIP, MIM: 176000</li><li>V->M at 267: in AIP, MIM: 176000</li><li>T->I at 269: in AIP, MIM: 176000</li><li>A->D at 270: in AIP, MIM: 176000</li><li>A->G at 270: in AIP, MIM: 176000</li><li>G->R at 274: in AIP, MIM: 176000</li><li>L->P at 278: in AIP, MIM: 176000</li><li>G->R at 280: in AIP, MIM: 176000</li><li>Missing  at 281: in AIP, MIM: 176000</li><li>Missing  at 329-332: in AIP, MIM: 176000</li><li>G->D at 335: in AIP, MIM: 176000</li><li>G->S at 335: in AIP; less than 3% of activity, MIM: 176000</li><li>L->P at 343: in AIP, MIM: 176000</li>							<li>O00170</li><li>Q9NWT8</li><li>Q7YRC1</li><li>O08915</li><li>O97628</li>	Acute intermittent porphyria (AIP) [MIM:176000]	rs34413634	2
P08476	3624		<li>Q->P at 299: in dbSNP:rs41294833</li>									rs41294833	2
P08493	4256		<li>K->E at 53: in dbSNP:rs1801716</li><li>T->A at 102: in dbSNP:rs4236</li>									<li>rs4236</li><li>rs1801716</li>	2
P08519			<li>R->Q at 3498: in dbSNP:rs41259144</li><li>L->V at 3866: in dbSNP:rs7765803</li><li>L->V at 3880: in dbSNP:rs7765781</li><li>T->P at 3907: in dbSNP:rs41272110</li><li>R->Q at 3929: in dbSNP:rs41272112</li><li>M->T at 4106: in dbSNP:rs41264308</li><li>M->T at 4187: in dbSNP:rs1801693</li><li>W->R at 4193: loss of lysine-sepharose binding</li><li>G->A at 4330: in dbSNP:rs41265936</li><li>I->M at 4399: in dbSNP:rs3798220</li><li>R->C at 4524: in dbSNP:rs3124784</li>			binding	GO:0005488					<li>rs1801693</li><li>rs3124784</li><li>rs41259144</li><li>rs41264308</li><li>rs41272110</li><li>rs41265936</li><li>rs41272112</li><li>rs7765781</li><li>rs7765803</li><li>rs3798220</li>	2
P08559	5160		<li>R->P at 10: in PDHE1 deficiency; affects mitochondrial import of precursor protein, MIM: 312170</li><li>R->C at 72: in PDHE1 deficiency, MIM: 312170</li><li>H->D at 113: in PDHE1 deficiency, MIM: 312170</li><li>G->R at 162: in PDHE1 deficiency, MIM: 312170</li><li>V->M at 167: in PDHE1 deficiency, MIM: 312170</li><li>A->T at 199: in PDHE1 deficiency, MIM: 312170</li><li>F->L at 205: in LS; PDHE1 deficiency, MIM: 308930</li><li>M->V at 210: in PDHE1 deficiency, MIM: 312170</li><li>P->L at 217: in PDHE1 deficiency, MIM: 312170</li><li>T->A at 231: in PDHE1 deficiency, MIM: 312170</li><li>Y->N at 243: in PDHE1 deficiency, MIM: 312170</li><li>D->A at 258: in LS; PDHE1 deficiency, MIM: 308930</li><li>R->G at 263: in PDHE1 deficiency and LS: in dbSNP rsrs28936081, MIM: 308930</li><li>R->Q at 263: in PDHE1 deficiency, MIM: 312170</li><li>M->L at 282: in dbSNP:rs2229137, MIM: 312170</li><li>R->H at 288: in PDHE1 deficiency, MIM: 312170</li><li>H->L at 292: in PDHE1 deficiency, MIM: 312170</li><li>R->C at 302: in PDHE1 deficiency; loss of activity; common mutation, MIM: 312170</li><li>R->H at 302: in PDHE1 deficiency, MIM: 312170</li><li>E->EDSYRTRE at 305: in PDHE1 deficiency, MIM: 312170</li><li>I->IPPHSYRTREEI at 307: in PDHE1 deficiency, MIM: 312170</li><li>Missing  at 311: in PDHE1 deficiency, MIM: 312170</li><li>Missing  at 313: in PDHE1 deficiency, MIM: 312170</li><li>D->N at 315: in PDHE1 deficiency: in dbSNP rsrs28935187, MIM: 312170</li><li>E->D at 333: in dbSNP:rs2228067, MIM: 312170</li><li>R->H at 378: in LS; PDHE1 deficiency, MIM: 308930</li>								<li>Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]</li><li>X-linked Leigh syndrome (LS) [MIM:308930]</li>	<li>rs28935187</li><li>rs28936081</li><li>rs2228067</li><li>rs2229137</li>	2
P08567	5341		<li>R->W at 5: in dbSNP:rs17035364</li><li>W->R at 92</li><li>K->N at 97: in dbSNP:rs3816281</li><li>K->R at 340: in dbSNP:rs1063479</li>									<li>rs17035364</li><li>rs1063479</li><li>rs3816281</li>	2
P08571	929		<li>N->D at 204: in dbSNP:rs2228049</li><li>E->K at 341: in dbSNP:rs11556179</li>									<li>rs11556179</li><li>rs2228049</li>	2
P08572	1284		<li>R->K at 517: in dbSNP:rs7990383</li><li>G->A at 683: in dbSNP:rs3803230</li><li>P->S at 718: in dbSNP:rs9583500</li>									<li>rs9583500</li><li>rs3803230</li><li>rs7990383</li>	2
P08574	1537		<li>V->M at 76: in dbSNP:rs7820984</li><li>L->V at 89</li>									rs7820984	2
P08579	6629		<li>K->Q at 19: in a colorectal cancer sample; somatic mutation</li>										2
P08581	4233		<li>R->Q at 143: in dbSNP rsrs35469582</li><li>S->L at 156: in dbSNP rsrs56311081</li><li>E->D at 168: in dbSNP rsrs55985569</li><li>L->S at 238: in dbSNP:rs34349517</li><li>I->M at 316: in dbSNP:rs35225896</li><li>A->V at 320: in dbSNP:rs35776110</li><li>N->S at 375: in dbSNP:rs33917957</li><li>P->L at 773: in gastric cancer</li><li>R->C at 970: in dbSNP:rs34589476</li><li>P->S at 991: in gastric cancer; prolonged tyrosine phosphorylation in response to HGF/SF; transforming activity in athymic nude mice</li><li>T->I at 992: low transforming activity in athymic nude mice: in dbSNP rsrs56391007</li><li>V->I at 1092: in HPRC; constitutive autophosphorylation, MIM: 605074</li><li>H->L at 1094: in HPRC; constitutive autophosphorylation; causes malignant transformation in cell lines, MIM: 605074</li><li>H->R at 1094: in HPRC; causes malignant transformation in cell lines, MIM: 605074</li><li>H->Y at 1094: in HPRC; constitutive autophosphorylation; causes malignant transformation in cell lines, MIM: 605074</li><li>H->D at 1106: in HPRC; constitutive autophosphorylation; causes malignant transformation in cell lines, MIM: 605074</li><li>M->T at 1131: in HPRC; germline mutation: in dbSNP rsrs28933101, MIM: 605074</li><li>T->I at 1173: in HCC, MIM: 114550</li><li>V->L at 1188: in HPRC; germline mutation: in dbSNP rsrs28932775, MIM: 605074</li><li>L->V at 1195: in HPRC; somatic mutation: in dbSNP rsrs28932778, MIM: 605074</li><li>V->I at 1220: in HPRC; germline mutation: in dbSNP rsrs28932776, MIM: 605074</li><li>D->H at 1228: in HPRC; somatic mutation, MIM: 605074</li><li>D->N at 1228: in HPRC; germline mutation: in dbSNP rsrs28932777, MIM: 605074</li><li>Y->C at 1230: in HPRC; germline mutation, MIM: 605074</li><li>Y->D at 1230: in HPRC; constitutive autophosphorylation; causes malignant transformation in cell lines, MIM: 605074</li><li>Y->H at 1230: in HPRC; somatic mutation, MIM: 605074</li><li>K->R at 1244: in HCC, MIM: 114550</li><li>M->I at 1250: in HCC, MIM: 114550</li><li>M->T at 1250: in HPRC; somatic mutation, MIM: 605074</li>	<li>phosphorylation</li><li>autophosphorylation</li>	<li>GO:0016310</li><li>GO:0046777</li>					<li>P14210</li><li>Q8T115</li><li>Q9NFL6</li>	<li>Hepatocellular carcinoma (HCC) [MIM:114550]</li><li>Hereditary papillary renal carcinoma (HPRC) [MIM:605074]</li>	<li>rs56311081</li><li>rs33917957</li><li>rs34589476</li><li>rs35776110</li><li>rs28932778</li><li>rs28932777</li><li>rs28933101</li><li>rs28932776</li><li>rs28932775</li><li>rs34349517</li><li>rs56391007</li><li>rs35469582</li><li>rs35225896</li><li>rs55985569</li>	2
P08582	4241		<li>R->W at 294: in dbSNP:rs2276790</li>									rs2276790	2
P08590	4634		<li>E->G at 56: in CMH8, MIM: 608751</li><li>E->K at 143: in CMH8; autosomal recessive, MIM: 608751</li><li>M->V at 149: in MVC1, MIM: 608751</li><li>R->H at 154: in MVC1, MIM: 608751</li>								<li>Cardiomyopathy hypertrophic with mid-left ventricular chamber type 1 (MVC1) [MIM:608751]</li><li>Cardiomyopathy familial hypertrophic type 8 (CMH8) [MIM:608751]</li>		2
P08603	3075		<li>V->I at 62: in dbSNP:rs800292</li><li>R->G at 78: in HUS, MIM: 235400</li><li>R->L at 127: in CFH deficiency; with membranoproliferative glomerulonephritis, MIM: 609814</li><li>Missing  at 224: in CFH deficiency; with membranoproliferative glomerulonephritis; affects binding of factor H to C3b and shows defective complement regulation, MIM: 609814</li><li>Q->K at 400: in HUS, MIM: 235400</li><li>Y->H at 402: polymorphism associated with ARMD4; dbSNP:rs1061170, MIM: 235400</li><li>C->S at 431: in CFH deficiency; with membranoproliferative glomerulonephritis, MIM: 609814</li><li>T->R at 493: in dbSNP:rs1061171, MIM: 609814</li><li>C->R at 536: in CFH deficiency, MIM: 609814</li><li>I->T at 551: in dbSNP:rs35453854, MIM: 609814</li><li>R->G at 567: associated with basal laminar drusen, MIM: 609814</li><li>C->W at 630: in HUS; atypical, MIM: 235400</li><li>C->S at 673: in CFH deficiency; with membranoproliferative glomerulonephritis, MIM: 609814</li><li>C->Y at 673: in HUS, MIM: 235400</li><li>E->K at 850: in HUS; atypical, MIM: 235400</li><li>S->I at 890: in dbSNP:rs515299, MIM: 235400</li><li>H->R at 893: in HUS; also in a patient with severe renal failure, MIM: 235400</li><li>C->S at 915: in HUS, MIM: 235400</li><li>E->D at 936: polymorphism associated with HUS and basal laminar drusen; dbSNP:rs1065489, MIM: 235400</li><li>Q->H at 950: in HUS, MIM: 235400</li><li>Y->H at 951: in HUS, MIM: 235400</li><li>T->M at 956: in HUS; atypical, MIM: 235400</li><li>C->Y at 959: in CFH deficiency, MIM: 609814</li><li>W->C at 978: in HUS; atypical, MIM: 235400</li><li>V->I at 1007, MIM: 235400</li><li>V->L at 1007: in dbSNP:rs534399, MIM: 235400</li><li>T->I at 1017: in dbSNP:rs34362004, MIM: 235400</li><li>Y->F at 1021: in HUS; atypical, MIM: 235400</li><li>C->R at 1043: in HUS; atypical, MIM: 235400</li><li>N->Y at 1050: polymorphism associated with basal laminar drusen; dbSNP:rs35274867, MIM: 235400</li><li>I->T at 1059: in dbSNP:rs35343172, MIM: 235400</li><li>Q->E at 1076: in CFH deficiency, MIM: 609814</li><li>R->S at 1078: associated with basal laminar drusen, MIM: 609814</li><li>D->G at 1119: in CFH deficiency, MIM: 609814</li><li>V->G at 1134: in HUS; atypical, MIM: 235400</li><li>Y->D at 1142: in HUS; atypical, MIM: 235400</li><li>Q->E at 1143: in dbSNP:rs34247141, MIM: 235400</li><li>W->R at 1157: in HUS; atypical, MIM: 235400</li><li>C->W at 1163: in HUS, MIM: 235400</li><li>W->L at 1183: in HUS, MIM: 235400</li><li>W->R at 1183: in HUS; atypical, MIM: 235400</li><li>T->R at 1184: in CFH deficiency, MIM: 609814</li><li>L->R at 1189: in HUS; atypical; nondiarrhea-associated, MIM: 235400</li><li>S->L at 1191: in HUS; dbSNP:rs460897, MIM: 235400</li><li>G->D at 1194: in HUS, MIM: 235400</li><li>V->A at 1197: in HUS; atypical; dbSNP:rs460184, MIM: 235400</li><li>E->A at 1198: in HUS, MIM: 235400</li><li>F->S at 1199: in HUS, MIM: 235400</li><li>R->C at 1210: in CFH deficiency, MIM: 609814</li><li>R->G at 1215: in HUS, MIM: 235400</li><li>R->Q at 1215: in CFH deficiency, MIM: 609814</li><li>YPTCAKR->FQS at 1225-1231: in HUS, MIM: 609814</li><li>P->S at 1226: in HUS; atypical, MIM: 235400</li>			binding	GO:0005488			<li>P08603</li><li>Q28085</li>	<li>Complement factor H deficiency (CFH deficiency) [MIM:609814]</li><li>Hemolytic-uremic syndrome (HUS) [MIM:235400]</li>	<li>rs35274867</li><li>rs34362004</li><li>rs460184</li><li>rs34247141</li><li>rs35453854</li><li>rs800292</li><li>rs1061170</li><li>rs1061171</li><li>rs35343172</li><li>rs515299</li><li>rs460897</li><li>rs1065489</li><li>rs534399</li>	2
P08631	3055		<li>A->T at 44: in dbSNP rsrs56029200</li><li>M->L at 105: in dbSNP rsrs55722810</li><li>D->G at 399: in an ovarian mucinous carcinoma sample; somatic mutation</li><li>P->Q at 502: in dbSNP:rs17093828</li>									<li>rs56029200</li><li>rs55722810</li><li>rs17093828</li>	2
P08637	2214		<li>L->H at 66</li><li>L->R at 66</li><li>F->V at 157</li><li>F->V at 176: in dbSNP:rs396991</li>									rs396991	2
P08648	3678		<li>R->I at 585: in dbSNP:rs12318746</li>									rs12318746	2
P08684	1576		<li>L->P at 15: in allele CYP3A4*14; dbSNP:rs12721634</li><li>G->D at 56: in allele CYP3A4*7: in dbSNP rsrs56324128</li><li>K->E at 96: in dbSNP:rs3091339</li><li>I->V at 118: in allele CYP3A4*4: in dbSNP rsrs55951658</li><li>R->Q at 130: in allele CYP3A4*8</li><li>R->Q at 162: in allele CYP3A4*15; dbSNP:rs4986907</li><li>V->I at 170: in allele CYP3A4*9</li><li>D->H at 174: in allele CYP3A4*10</li><li>T->S at 185: in allele CYP3A4*16; dbSNP:rs12721627</li><li>F->S at 189: in allele CYP3A4*17; exhibits lower turnover numbers for testosterone and chlorpyrifos; dbSNP:rs4987161</li><li>P->R at 218: in allele CYP3A4*5: in dbSNP rsrs55901263</li><li>S->P at 222: in allele CYP3A4*2; exhibits a lower intrinsic clearance toward nifedipine: in dbSNP rsrs55785340</li><li>S->A at 252: in dbSNP:rs3208363</li><li>L->P at 293: in allele CYP3A4*18; exhibits higher turnover numbers for testosterone and chlorpyrifos; dbSNP:rs28371759</li><li>T->N at 349: in dbSNP:rs10250778</li><li>T->M at 363: in allele CYP3A4*11; unstable form</li><li>L->F at 373: in allele CYP3A4*12; has an altered testosterone hydroxylase activity; dbSNP:rs12721629</li><li>P->L at 416: in allele CYP3A4*13; lack of expression; dbSNP:rs4986909</li><li>I->T at 431: in dbSNP:rs1041988</li><li>M->T at 445: in allele CYP3A4*3; dbSNP:rs4986910</li><li>P->S at 467: in allele CYP3A4*19; dbSNP:rs4986913</li>							P08684		<li>rs28371759</li><li>rs55785340</li><li>rs56324128</li><li>rs1041988</li><li>rs4986909</li><li>rs4986907</li><li>rs3208363</li><li>rs10250778</li><li>rs4986910</li><li>rs4986913</li><li>rs3091339</li><li>rs4987161</li><li>rs55951658</li><li>rs12721634</li><li>rs12721627</li><li>rs12721629</li><li>rs55901263</li>	2
P08697	5345		<li>A->V at 2: in dbSNP:rs2070862</li><li>A->V at 27</li><li>R->W at 33: in dbSNP:rs2070863</li><li>A->G at 98: in dbSNP:rs36021516</li><li>Missing  at 176: in APLID; variant Okinawa; probably blocks intracellular transport of alpha-2-plasmin inhibitor</li><li>V->M at 411: in APLID, MIM: 262850</li><li>R->K at 434: in dbSNP:rs1057335, MIM: 262850</li>	intracellular transport	GO:0046907					<li>P28800</li><li>Q61247</li><li>P08697</li><li>P83168</li>	Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850]	<li>rs36021516</li><li>rs1057335</li><li>rs2070862</li><li>rs2070863</li>	2
P08700	3562		<li>R->C at 3: in dbSNP:rs35415145</li><li>R->H at 15: in dbSNP:rs2069787</li><li>P->S at 27: in dbSNP:rs40401</li><li>N->S at 60: in dbSNP:rs35482671</li>									<li>rs40401</li><li>rs35482671</li><li>rs2069787</li><li>rs35415145</li>	2
P08708	6218		<li>E->K at 36: in dbSNP:rs1043734</li>									rs1043734	2
P08709	2155		<li>L->P at 13: in Morioka; FVII deficiency</li><li>F->L at 64: in FVII deficiency</li><li>L->Q at 73: in FVII deficiency: in dbSNP rsrs45572939</li><li>E->Q at 79: in FVII deficiency</li><li>S->P at 120: in FVII deficiency</li><li>C->F at 121: in FVII deficiency</li><li>L->P at 125: in FVII deficiency</li><li>Y->C at 128: in FVII deficiency</li><li>R->K at 139: in FVII deficiency</li><li>R->Q at 139: in Charlotte; FVII deficiency</li><li>R->W at 139: in FVII deficiency</li><li>C->S at 151: in FVII deficiency</li><li>E->K at 154: in FVII deficiency</li><li>G->C at 157: in FVII deficiency</li><li>G->S at 157: in FVII deficiency</li><li>G->V at 157: in FVII deficiency</li><li>Q->R at 160: in FVII deficiency</li><li>P->T at 194: in Malta-I; FVII deficiency</li><li>C->R at 195: in FVII deficiency</li><li>K->E at 197: in FVII deficiency</li><li>R->Q at 212: in Charlotte; FVII deficiency</li><li>G->D at 216: in FVII deficiency</li><li>C->Y at 238: in FVII deficiency</li><li>T->N at 241: in FVII deficiency</li><li>C->Y at 254: in FVII deficiency</li><li>A->T at 266: in FVII deficiency</li><li>R->W at 283: in FVII deficiency</li><li>V->D at 295: in dbSNP:rs6045</li><li>D->H at 302: in FVII deficiency</li><li>D->N at 302: in FVII deficiency</li><li>A->T at 304: in FVII deficiency</li><li>A->V at 304: in Malta-II; FVII deficiency</li><li>R->C at 307: in FVII deficiency</li><li>R->H at 307: in Mie; FVII deficiency</li><li>V->M at 312: in FVII deficiency</li><li>E->K at 325: in FVII deficiency</li><li>T->M at 332: in FVII deficiency</li><li>V->F at 341: in FVII deficiency</li><li>A->T at 352: in dbSNP:rs3093267</li><li>A->V at 354: in FVII deficiency: in dbSNP rsrs36209567</li><li>M->I at 358: in FVII deficiency</li><li>M->V at 358: in FVII deficiency</li><li>P->R at 363: in FVII deficiency</li><li>R->Q at 364: in Harrow/Padua; FVII deficiency</li><li>T->S at 367</li><li>C->F at 370: in FVII deficiency</li><li>C->G at 389: in FVII deficiency</li><li>G->S at 391: in FVII deficiency</li><li>G->E at 402: in FVII deficiency</li><li>G->R at 402: in FVII deficiency</li><li>D->H at 403: in FVII deficiency</li><li>R->Q at 413: in allele Q; dbSNP:rs6046</li><li>T->M at 419: in FVII deficiency</li><li>G->E at 435: in FVII deficiency</li><li>E->K at 445: in dbSNP:rs3093248</li>									<li>rs6046</li><li>rs6045</li><li>rs3093267</li><li>rs3093248</li><li>rs36209567</li><li>rs45572939</li>	2
P08729	3855		<li>A->G at 364: in dbSNP rsrs2608009</li>									rs2608009	2
P08779	3868		<li>Missing  at 104-107: in UPVN; somatic mutation</li><li>M->T at 121: in PC1; dbSNP:rs28928894, MIM: 167200</li><li>Q->P at 122: in PC1: in dbSNP rsrs59349773, MIM: 167200</li><li>L->R at 124: in PC1: in dbSNP rsrs58293603, MIM: 167200</li><li>N->S at 125: in NEPPK: in dbSNP rsrs60723330, MIM: 600962</li><li>R->C at 127: in NEPPK: in dbSNP rsrs59856285, MIM: 600962</li><li>R->P at 127: in PC1: in dbSNP rsrs57424749, MIM: 167200</li><li>L->Q at 128: in PC1; dbSNP:rs28928895, MIM: 167200</li><li>Missing  at 130: in PC1, MIM: 167200</li><li>L->P at 132: in PC1: in dbSNP rsrs60944949, MIM: 167200</li><li>K->N at 354: in PC1; late onset: in dbSNP rsrs59328451, MIM: 167200</li>							<li>P22413</li><li>P28840</li><li>P63239</li><li>Q9GLR1</li><li>P63240</li><li>P29120</li>	<li>Palmoplantar keratoderma non-epidermolytic (NEPPK) [MIM:600962]</li><li>Pachyonychia congenita type 1 (PC1) [MIM:167200]</li>	<li>rs59349773</li><li>rs28928894</li><li>rs28928895</li><li>rs59856285</li><li>rs59328451</li><li>rs60723330</li><li>rs57424749</li><li>rs58293603</li><li>rs60944949</li>	2
P08833	3484		<li>H->D at 114: in dbSNP:rs41258845</li><li>V->I at 183: in dbSNP:rs1065782</li><li>I->M at 253: in dbSNP:rs4619</li>									<li>rs4619</li><li>rs41258845</li><li>rs1065782</li>	2
P08842	412		<li>S->L at 341: in IXL; loss of activity, MIM: 308100</li><li>W->R at 372: in IXL; loss of activity, MIM: 308100</li><li>W->S at 372: in IXL; loss of activity, MIM: 308100</li><li>G->R at 380: in IXL, MIM: 308100</li><li>H->R at 444: in IXL; loss of activity, MIM: 308100</li><li>C->Y at 446: in IXL; loss of activity, MIM: 308100</li><li>Q->P at 560: in IXL, MIM: 308100</li>								Ichthyosis X-linked (IXL) [MIM:308100]		2
P08861	23436		<li>W->R at 79: in dbSNP:rs7528405</li>									rs7528405	2
P08865	3921		<li>R->W at 117: in dbSNP:rs17856150</li>									rs17856150	2
P08908	3350		<li>P->L at 16: in dbSNP:rs1800041</li><li>G->S at 22: in dbSNP:rs1799920</li><li>I->V at 28: in dbSNP:rs1799921</li><li>P->L at 184: in dbSNP:rs1800043</li><li>R->L at 220: in dbSNP:rs1800044</li><li>G->D at 273: in dbSNP:rs1800042</li>									<li>rs1800044</li><li>rs1800043</li><li>rs1799920</li><li>rs1800042</li><li>rs1799921</li><li>rs1800041</li>	2
P08910	11057		<li>R->Q at 253: in dbSNP:rs17851730</li>									rs17851730	2
P08922	6098		<li>N->S at 13: in dbSNP rsrs45606237</li><li>G->V at 126: in dbSNP rsrs34245787</li><li>T->P at 145: in dbSNP:rs1998206</li><li>R->Q at 167: in dbSNP:rs2243380</li><li>P->S at 224: in dbSNP rsrs55959124</li><li>Y->C at 338: in dbSNP rsrs55707658</li><li>S->P at 370: in dbSNP rsrs56274823</li><li>Y->H at 419: in a gastric adenocarcinoma sample; somatic mutation</li><li>I->M at 537: in dbSNP:rs28639589</li><li>S->F at 653: in dbSNP:rs34203286</li><li>N->S at 790: in dbSNP:rs34582164</li><li>Q->H at 865: in a lung large cell carcinoma sample; somatic mutation</li><li>S->L at 1109: in dbSNP:rs2229079</li><li>Y->F at 1239: in dbSNP rsrs56192249</li><li>Y->S at 1353: in dbSNP rsrs35269727</li><li>C->R at 1370: in dbSNP rsrs36106063</li><li>F->S at 1439: in dbSNP:rs17079086</li><li>R->G at 1506: in dbSNP:rs35841892</li><li>D->H at 1776: in dbSNP:rs12664076</li><li>E->K at 1902: in dbSNP:rs9489124</li><li>H->N at 1999: in dbSNP rsrs45569132</li><li>K->R at 2003: in a colorectal adenocarcinoma sample; somatic mutation</li><li>R->H at 2039: in dbSNP:rs3752566</li><li>F->S at 2138: in a gastric adenocarcinoma sample; somatic mutation</li><li>D->N at 2203</li><li>D->E at 2213</li><li>D->N at 2213: in dbSNP:rs529038</li><li>K->Q at 2228: in dbSNP:rs529156</li><li>S->C at 2229: in dbSNP:rs619203</li><li>N->K at 2240: in dbSNP:rs210968</li><li>K->R at 2328: in dbSNP:rs35932630</li>									<li>rs34582164</li><li>rs17079086</li><li>rs12664076</li><li>rs56192249</li><li>rs45606237</li><li>rs35269727</li><li>rs55959124</li><li>rs56274823</li><li>rs9489124</li><li>rs36106063</li><li>rs210968</li><li>rs529038</li><li>rs28639589</li><li>rs3752566</li><li>rs529156</li><li>rs2243380</li><li>rs619203</li><li>rs1998206</li><li>rs55707658</li><li>rs35932630</li><li>rs34203286</li><li>rs45569132</li><li>rs2229079</li><li>rs34245787</li><li>rs35841892</li>	2
P09001	11222		<li>M->T at 261: in dbSNP:rs2291381</li>									rs2291381	2
P09093	10136		<li>G->A at 241: in dbSNP:rs3820285</li>									rs3820285	2
P09104	2026		<li>P->A at 264</li><li>T->A at 395</li>										2
P09110	30		<li>E->D at 172: in dbSNP:rs156265</li>									rs156265	2
P09131	8273		<li>V->I at 354: in dbSNP:rs35381503</li>									rs35381503	2
P09132	6728		<li>A->T at 4: in dbSNP:rs17855423</li>									rs17855423	2
P09172	1621		<li>G->S at 12: in dbSNP:rs5318</li><li>V->M at 101: in DBH deficiency, MIM: 223360</li><li>D->E at 114: in DBH deficiency, MIM: 223360</li><li>E->Q at 181: in dbSNP:rs5319, MIM: 223360</li><li>A->T at 211: in dbSNP:rs5320, MIM: 223360</li><li>K->N at 239: in dbSNP:rs5321, MIM: 223360</li><li>E->Q at 250: in dbSNP:rs5323, MIM: 223360</li><li>D->N at 290: in dbSNP:rs5324, MIM: 223360</li><li>L->P at 317: in dbSNP:rs5325, MIM: 223360</li><li>A->S at 318: in allele DBH-B; dbSNP:rs4531, MIM: 223360</li><li>D->N at 345: in DBH deficiency, MIM: 223360</li><li>R->C at 549: in dbSNP:rs6271, MIM: 223360</li>							<li>P15101</li><li>P09172</li>	DBH deficiency [MIM:223360]	<li>rs5320</li><li>rs5321</li><li>rs4531</li><li>rs6271</li><li>rs5319</li><li>rs5318</li><li>rs5325</li><li>rs5324</li><li>rs5323</li>	2
P09210	2939		<li>P->S at 110: in dbSNP:rs2234951</li><li>S->T at 112: in dbSNP:rs2180314</li><li>V->A at 149: in dbSNP:rs2266631</li><li>E->A at 210: in dbSNP:rs6577</li>									<li>rs2180314</li><li>rs6577</li><li>rs2266631</li><li>rs2234951</li>	2
P09211	2950		<li>I->V at 105: in allele GSTP1*B and allele GSTP1*C; dbSNP:rs1695</li><li>A->V at 114: in allele GSTP1*C; dbSNP:rs1138272</li><li>G->D at 169: in dbSNP:rs41462048</li>							<li>Q5R8R5</li><li>P28801</li><li>P09211</li><li>P80031</li><li>Q28514</li><li>Q9TTY8</li><li>Q60550</li><li>P47954</li><li>P46424</li>		<li>rs1695</li><li>rs1138272</li><li>rs41462048</li>	2
P09237	4316		<li>R->H at 77: in dbSNP:rs10502001</li><li>G->D at 137: in dbSNP:rs17884789</li><li>P->L at 241: in dbSNP:rs17886506</li>									<li>rs17884789</li><li>rs17886506</li><li>rs10502001</li>	2
P09238	4319		<li>L->V at 4: in dbSNP:rs17435959</li><li>R->K at 53: in dbSNP:rs486055</li><li>G->R at 65: in dbSNP:rs17293607</li><li>E->Q at 142: in a breast cancer sample; somatic mutation</li><li>F->L at 226: in dbSNP:rs17860971</li><li>G->E at 282: in dbSNP:rs17860973</li><li>L->F at 440: in dbSNP:rs17860996</li><li>H->L at 475: in dbSNP:rs17861009</li>									<li>rs17293607</li><li>rs486055</li><li>rs17435959</li><li>rs17861009</li><li>rs17860971</li><li>rs17860973</li><li>rs17860996</li>	2
P09326	962		<li>E->Q at 102: in dbSNP:rs2295615</li><li>L->S at 241: in dbSNP:rs16832307</li>									<li>rs2295615</li><li>rs16832307</li>	2
P09417	5860		<li>L->P at 14: in PK2; severe, MIM: 261630</li><li>G->R at 17: in PK2; severe, MIM: 261630</li><li>G->V at 17: in PK2; severe, MIM: 261630</li><li>G->D at 18: in PK2; severe, MIM: 261630</li><li>G->D at 23: in PK2; severe, MIM: 261630</li><li>W->R at 36: in PK2, MIM: 261630</li><li>S->T at 51, MIM: 261630</li><li>Q->R at 66: in PK2; severe, MIM: 261630</li><li>L->P at 74: in PK2, MIM: 261630</li><li>W->G at 108: in PK2, MIM: 261630</li><li>T->TT at 123: in PK2, MIM: 261630</li><li>P->L at 145: in PK2, MIM: 261630</li><li>G->R at 149: in PK2, MIM: 261630</li><li>Y->C at 150: in PK2; mild, MIM: 261630</li><li>G->S at 151: in PK2; mild, MIM: 261630</li><li>H->Y at 158: in PK2; severe, MIM: 261630</li><li>G->S at 170: in PK2, MIM: 261630</li><li>F->C at 212: in PK2; mild, MIM: 261630</li><li>G->GITG at 218: in PK2; mild, MIM: 261630</li>							<li>P41676</li><li>Q02595</li><li>Q9HC23</li><li>P14618</li><li>Q9QXU7</li><li>P34099</li><li>Q8R413</li>	Phenylketonuria II (PK2) [MIM:261630]		2
P09429	3146		<li>G->R at 11: in gastric-carcinoma cell line</li><li>A->E at 149: in gastric-carcinoma cell line</li><li>E->Q at 156</li><li>D->G at 190: in gastric-carcinoma cell line</li>										2
P09466	5047		<li>L->V at 28: in dbSNP:rs34284195</li><li>Q->K at 126: in dbSNP:rs3748210</li>									<li>rs34284195</li><li>rs3748210</li>	2
P09493	7168		<li>E->K at 40: in CMD1Y, MIM: 611878</li><li>E->K at 54: in CMD1Y, MIM: 611878</li><li>A->V at 63: in CMH3, MIM: 115196</li><li>D->N at 175: in CMH3: in dbSNP rsrs28934270, MIM: 115196</li><li>E->G at 180: in CMH3: in dbSNP rsrs28934269, MIM: 115196</li><li>E->V at 180: in CMH3, MIM: 115196</li>								<li>Cardiomyopathy familial hypertrophic type 3 (CMH3) [MIM:115196]</li><li>Cardiomyopathy dilated type 1Y (CMD1Y) [MIM:611878]</li>	<li>rs28934269</li><li>rs28934270</li>	2
P09543	1267		<li>Q->R at 207: in dbSNP:rs34353668</li>									rs34353668	2
P09544	7472		<li>L->R at 5</li><li>C->F at 294: in dbSNP:rs1051751</li><li>R->W at 299</li>									rs1051751	2
P09564	924		<li>T->A at 113: in dbSNP:rs34579511</li>									rs34579511	2
P09601	3162		<li>D->H at 7: in dbSNP:rs2071747</li><li>P->L at 106: in dbSNP:rs9282702</li>									<li>rs2071747</li><li>rs9282702</li>	2
P09619	5159		<li>I->F at 29: in dbSNP:rs17110944</li><li>S->F at 180: in dbSNP:rs17853027</li><li>E->K at 282: in dbSNP:rs34586048</li><li>P->S at 345: in dbSNP:rs2229558</li><li>E->K at 485: in dbSNP rsrs41287110</li><li>Y->H at 589: in a gastric adenocarcinoma sample; somatic mutation</li><li>N->Y at 718: in dbSNP rsrs35322465</li><li>T->I at 882: in a breast infiltrating ductal carcinoma sample; somatic mutation</li>									<li>rs41287110</li><li>rs2229558</li><li>rs17110944</li><li>rs35322465</li><li>rs34586048</li><li>rs17853027</li>	2
P09622			<li>K->E at 72: in DLD deficiency</li><li>T->K at 104: in dbSNP:rs1130477</li><li>G->C at 229: in DLD deficiency; carrier rate among Askenazi Jewish 1:94</li><li>L->V at 331: in dbSNP:rs17624</li><li>P->L at 488: in DLD deficiency</li><li>R->G at 495: in DLD deficiency; loss of enzyme activity</li>							<li>Q60HG3</li><li>Q86WU2</li><li>Q7TNG8</li><li>Q5R4B1</li><li>P49819</li><li>P32891</li><li>P09622</li><li>Q8CIZ7</li><li>Q12627</li><li>P09623</li>		<li>rs1130477</li><li>rs17624</li>	2
P09661	6627		<li>R->H at 234: in dbSNP:rs1050843</li>									rs1050843	2
P09668			<li>G->R at 126: in a colorectal cancer sample; somatic mutation</li>										2
P09681	2695		<li>S->G at 103: in dbSNP:rs2291725</li><li>N->S at 146: in dbSNP:rs35703924</li>									<li>rs2291725</li><li>rs35703924</li>	2
P09758	4070		<li>E->D at 147: in dbSNP:rs1062964</li><li>D->A at 173: in dbSNP:rs35075952</li><li>D->E at 216: in dbSNP:rs14008</li>									<li>rs35075952</li><li>rs14008</li><li>rs1062964</li>	2
P09769	2268		<li>T->I at 110</li><li>S->R at 130: in dbSNP rsrs35334091</li>									rs35334091	2
P09848	3938		<li>V->I at 219: in dbSNP:rs3754689</li><li>Q->H at 268: in congenital lactase deficiency, MIM: 223000</li><li>V->I at 362: in dbSNP:rs4954449, MIM: 223000</li><li>G->S at 1363: in congenital lactase deficiency, MIM: 223000</li><li>N->S at 1639: in dbSNP:rs2322659, MIM: 223000</li>							<li>P48981</li><li>P16278</li><li>P48982</li><li>P48980</li><li>P19668</li><li>P30812</li><li>O52629</li><li>P29853</li><li>O19015</li><li>P81669</li><li>P50388</li><li>Q02603</li><li>Q02604</li><li>O07684</li><li>O07685</li><li>Q59750</li><li>P22498</li><li>P23780</li><li>Q48727</li><li>Q00662</li><li>P70753</li><li>Q02401</li><li>Q60HF6</li><li>Q1G9Z4</li><li>O33815</li><li>P45582</li><li>O52847</li><li>Q59140</li><li>P26257</li><li>P24131</li><li>P81650</li><li>Q47077</li><li>P09848</li><li>Q9K9C6</li><li>P06864</li><li>P14288</li><li>Q48846</li><li>P49676</li><li>P06219</li><li>P09849</li><li>Q48847</li><li>P0C1Y0</li><li>Q9TRY9</li><li>P23989</li><li>P00723</li><li>P77989</li><li>Q56307</li><li>Q7WTB4</li><li>P00722</li><li>Q7WTB3</li>	Congenital lactase deficiency [MIM:223000]	<li>rs4954449</li><li>rs3754689</li><li>rs2322659</li>	2
P09871	716		<li>R->H at 119: in dbSNP:rs12146727</li><li>V->L at 327: in dbSNP:rs2239170</li><li>R->H at 383: in dbSNP:rs20573</li>									<li>rs20573</li><li>rs2239170</li><li>rs12146727</li>	2
P09884	5422		<li>Y->H at 740: in dbSNP:rs2230927</li>									rs2230927	2
P09913	3433		<li>E->A at 79: in dbSNP:rs17468739</li><li>K->R at 121: in dbSNP:rs2070845</li><li>D->E at 352: in dbSNP:rs1727</li>									<li>rs1727</li><li>rs2070845</li><li>rs17468739</li>	2
P09914	3434		<li>P->H at 131: in dbSNP:rs11553019</li>									rs11553019	2
P09919	1440		<li>L->M at 157: in dbSNP:rs2227329</li><li>A->T at 174: in dbSNP:rs2227330</li>									<li>rs2227330</li><li>rs2227329</li>	2
P09923	248		<li>R->H at 144: in dbSNP:rs7559279</li><li>H->L at 298: in dbSNP:rs1047223</li>									<li>rs7559279</li><li>rs1047223</li>	2
P09958	5045		<li>A->V at 43: in dbSNP:rs16944971</li><li>W->R at 547: in cell line LoVo; does not undergo autocatalytic activation and is not transported to the Golgi apparatus</li>					Golgi apparatus	GO:0005794			rs16944971	2
P0C024	283927		<li>R->H at 100: in dbSNP:rs308925</li><li>E->G at 181: in dbSNP:rs16946429</li>									<li>rs308925</li><li>rs16946429</li>	2
P0C0L4	720		<li>S->Y at 347: in dbSNP:rs392610</li><li>R->W at 477: in allotype C4A6</li><li>P->L at 726: in allotype C4A3; dbSNP:rs2229408</li><li>D->N at 727</li><li>A->T at 907: in dbSNP:rs429329</li><li>D->G at 1073: in allotype C4A1; dbSNP:rs2258218</li><li>N->S at 1176: in allotype C4A1; dbSNP:rs2746414: in dbSNP rsrs17874654</li><li>S->T at 1201: in allotype C4A6, allotype C4A3 and allotype C4A1</li><li>V->A at 1207: in allotype C4A1; dbSNP:rs2229403: in dbSNP rsrs28357075</li><li>L->R at 1210: in allotype C4A1; dbSNP:rs2229409: in dbSNP rsrs28357076</li><li>S->A at 1286: in allotype C4A6, allotype C4A1, allotype C4A3; dbSNP:rs9501603</li>									<li>rs28357075</li><li>rs28357076</li><li>rs429329</li><li>rs392610</li><li>rs17874654</li>	2
P0C0L5			<li>S->Y at 347: in dbSNP:rs392610</li><li>A->T at 907: in dbSNP:rs429329</li><li>D->G at 1073: in allotype C4B1 and allotype C4B3; dbSNP:rs2258218</li><li>N->S at 1176: in allotype C4B1, allotype C4B3 and allotype C4B5; dbSNP:rs2746414</li><li>S->T at 1201: in allotype C4B</li><li>V->A at 1207: in allotype C4B1, allotype C4B2 and allotype C4B3; dbSNP:rs2229403</li><li>L->R at 1210: in allotype C4B1, allotype C4B2 and allotype C4B3; dbSNP:rs2229409</li><li>S->A at 1286: in dbSNP:rs9501603</li>							P0C0L5		<li>rs9501603</li><li>rs429329</li><li>rs392610</li>	2
P0C0P6	594857		<li>S->L at 14: in dbSNP:rs990310</li><li>V->L at 75: in dbSNP:rs4751440</li>									<li>rs4751440</li><li>rs990310</li>	2
P0C1H6	286436		<li>R->H at 22: in dbSNP:rs578953</li>									rs578953	2
P0C1S8			<li>K->T at 8</li><li>N->K at 332: in a gastric adenocarcinoma sample; somatic mutation</li><li>R->H at 398: in an ovarian mucinous carcinoma sample; somatic mutation</li><li>D->E at 470</li><li>Y->D at 526</li>										2
P0C221	729665		<li>G->R at 164: in dbSNP:rs17834244</li><li>G->E at 507: in dbSNP:rs4261431</li><li>S->N at 689: in dbSNP:rs12887189</li><li>S->R at 689: in dbSNP:rs4394993</li>									<li>rs4261431</li><li>rs17834244</li><li>rs4394993</li><li>rs12887189</li>	2
P0C263			<li>E->K at 20</li><li>A->E at 41</li><li>G->D at 102</li>										2
P0C2Y1	343505		<li>E->D at 170: in dbSNP:rs6678923</li>									rs6678923	2
P0C5J1	653333		<li>D->Y at 43: in dbSNP:rs2684093</li><li>R->S at 285: in dbSNP:rs7817085</li>									<li>rs7817085</li><li>rs2684093</li>	2
P0C6C1			<li>P->R at 369: in dbSNP:rs410400</li><li>P->H at 427: in dbSNP:rs449340</li><li>L->I at 442: in dbSNP:rs422777</li>									<li>rs422777</li><li>rs410400</li><li>rs449340</li>	2
P0C6P0	606		<li>V->A at 33: in dbSNP:rs6422240</li><li>T->I at 54: in dbSNP:rs6422239</li><li>C->R at 81: in dbSNP:rs7497658</li>									<li>rs6422240</li><li>rs7497658</li><li>rs6422239</li>	2
P0C7H9	392197		<li>A->G at 161: in dbSNP:rs17815120</li><li>P->L at 494: in dbSNP:rs9694759</li>									<li>rs9694759</li><li>rs17815120</li>	2
P0C7I6			<li>C->S at 393: in dbSNP:rs6887</li>									rs6887	2
P0C7L1	646424		<li>K->N at 78: in dbSNP:rs11718350</li>									rs11718350	2
P0C7P3	342618		<li>Q->R at 93: in dbSNP:rs10512472</li><li>K->E at 385: in dbSNP:rs321612</li><li>G->S at 870: in dbSNP:rs1350011</li><li>S->I at 880: in dbSNP:rs1350010</li><li>L->F at 905: in dbSNP:rs9907259</li><li>Y->F at 912: in dbSNP:rs8073060</li>									<li>rs9907259</li><li>rs321612</li><li>rs10512472</li><li>rs8073060</li><li>rs1350010</li><li>rs1350011</li>	2
P0C7Q2	387715		<li>R->H at 3: in dbSNP:rs10490923</li><li>A->S at 69: in dbSNP:rs10490924</li>									<li>rs10490924</li><li>rs10490923</li>	2
P0C7Q3	339521		<li>Q->R at 48: in dbSNP:rs12028402</li><li>T->N at 236: in dbSNP:rs10919847</li>									<li>rs10919847</li><li>rs12028402</li>	2
P0C7Q6	643664		<li>A->T at 51: in dbSNP:rs3760422</li><li>P->L at 251: in dbSNP:rs4491591</li>									<li>rs3760422</li><li>rs4491591</li>	2
P0C7T5	342371		<li>S->P at 313: in dbSNP:rs7194407</li>									rs7194407	2
P0C7T7	145438		<li>G->R at 115: in dbSNP:rs11845396</li>									rs11845396	2
P0C7U3	653082		<li>R->Q at 42: in dbSNP:rs1809933</li><li>R->G at 200: in dbSNP:rs634901</li>									<li>rs634901</li><li>rs1809933</li>	2
P0C7V3	343629		<li>Q->R at 92: in dbSNP:rs8118985</li><li>M->T at 231: in dbSNP:rs236725</li><li>M->T at 263: in dbSNP:rs236724</li><li>R->Q at 269: in dbSNP:rs2558122</li><li>R->Q at 285: in dbSNP:rs6070731</li><li>R->Q at 301: in dbSNP:rs236723</li>									<li>rs2558122</li><li>rs236725</li><li>rs236723</li><li>rs236724</li><li>rs6070731</li><li>rs8118985</li>	2
P0C7V8			<li>T->A at 316: in dbSNP:rs5926895</li>									rs5926895	2
P0C7X2	146542		<li>S->I at 131: in dbSNP:rs33997546</li>									rs33997546	2
P0C7X4			<li>R->H at 17: in dbSNP:rs7058438</li><li>A->P at 106: in dbSNP:rs7055365</li>									<li>rs7055365</li><li>rs7058438</li>	2
P0C7X5	646915		<li>V->A at 8: in dbSNP:rs2459647</li><li>A->S at 28: in dbSNP:rs7340197</li><li>F->L at 44: in dbSNP:rs7355766</li><li>K->T at 60: in dbSNP:rs4953961</li><li>G->E at 163: in dbSNP:rs7349198</li><li>R->C at 189: in dbSNP:rs7349364</li><li>V->I at 276: in dbSNP:rs7349215</li><li>D->E at 375: in dbSNP:rs7340499</li><li>F->C at 498: in dbSNP:rs2598809</li><li>R->H at 561: in dbSNP:rs7340213</li><li>K->E at 564: in dbSNP:rs2598806</li>									<li>rs4953961</li><li>rs7349364</li><li>rs7355766</li><li>rs7340213</li><li>rs7349198</li><li>rs2598809</li><li>rs7340197</li><li>rs7349215</li><li>rs2598806</li><li>rs2459647</li><li>rs7340499</li>	2
P0C860			<li>N->D at 47: in dbSNP:rs1131804</li><li>L->I at 99: in dbSNP:rs16849902</li><li>S->N at 145: in dbSNP:rs1051597</li><li>A->D at 147: in dbSNP:rs213544</li><li>P->S at 257: in dbSNP:rs13384181</li><li>K->E at 316: in dbSNP:rs28900724</li>									<li>rs1051597</li><li>rs13384181</li><li>rs1131804</li><li>rs28900724</li><li>rs16849902</li><li>rs213544</li>	2
P0C862	338872		<li>M->V at 219: in dbSNP:rs3751357</li><li>V->M at 301: in dbSNP:rs4589405</li>									<li>rs4589405</li><li>rs3751357</li>	2
P0C867	100130201		<li>S->L at 98: in dbSNP:rs590557</li>									rs590557	2
P0C870	100137047		<li>A->G at 28: in dbSNP:rs7174710</li>									rs7174710	2
P10070	2736		<li>D->H at 449: in dbSNP:rs13427953</li><li>R->G at 479: in HPE9, MIM: 610829</li><li>S->I at 579: in dbSNP:rs12618388, MIM: 610829</li><li>P->S at 625: in dbSNP:rs3099537, MIM: 610829</li><li>P->S at 932: in HPE9, MIM: 610829</li><li>A->S at 1156: in dbSNP:rs3738880, MIM: 610829</li><li>D->N at 1306: in dbSNP:rs12711538, MIM: 610829</li><li>M->I at 1444: in HPE9, MIM: 610829</li><li>P->L at 1554: in HPE9, MIM: 610829</li>								Holoprosencephaly type 9 (HPE9) [MIM:610829]	<li>rs12711538</li><li>rs3099537</li><li>rs13427953</li><li>rs12618388</li><li>rs3738880</li>	2
P10071	2737		<li>P->L at 169: in a colorectal cancer sample; somatic mutation</li><li>A->T at 183: in dbSNP:rs846266</li><li>D->E at 440</li><li>C->G at 515: in GCPS, MIM: 175700</li><li>C->Y at 520: in GCPS, MIM: 175700</li><li>R->W at 625: in GCPS, MIM: 175700</li><li>P->S at 707: in GCPS, MIM: 175700</li><li>G->R at 727: in PAPA1/PAPB, MIM: 174200</li><li>I->M at 808: in GCPS, MIM: 175700</li><li>A->P at 934: in ACS; dbSNP:rs28933372, MIM: 200990</li><li>L->P at 998: in dbSNP:rs929387, MIM: 200990</li><li>S->P at 1304: in a colorectal cancer sample; somatic mutation, MIM: 200990</li><li>G->E at 1336: in dbSNP:rs35280470, MIM: 200990</li><li>R->C at 1537: in dbSNP:rs35364414, MIM: 200990</li>							<li>Q9NR19</li><li>Q9VP61</li><li>Q9QXG4</li><li>Q8NCC3</li><li>O18417</li><li>P05623</li><li>P67807</li><li>P67806</li><li>Q8VEB4</li><li>Q27549</li><li>Q9C086</li>	<li>Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]</li><li>Type A1/B postaxial polydactyly (PAPA1/PAPB) [MIM:174200, 603596]</li><li>Acrocallosal syndrome (ACS) [MIM:200990]</li>	<li>rs35364414</li><li>rs35280470</li><li>rs28933372</li><li>rs929387</li><li>rs846266</li>	2
P10072	284459		<li>R->H at 448: in dbSNP:rs2921563</li><li>S->I at 513: in dbSNP:rs3745765</li><li>T->I at 628: in dbSNP:rs3745764</li>									<li>rs3745764</li><li>rs2921563</li><li>rs3745765</li>	2
P10074	3104		<li>S->A at 675: in dbSNP:rs2229330</li>									rs2229330	2
P10075	2738		<li>A->T at 180: in dbSNP:rs1056148</li>									rs1056148	2
P10082	5697		<li>G->R at 37: in dbSNP:rs229969</li><li>T->R at 72: in dbSNP:rs1058046</li><li>D->H at 95: in dbSNP:rs465407</li>									<li>rs1058046</li><li>rs229969</li><li>rs465407</li>	2
P10124	5552		<li>Q->R at 31: in dbSNP:rs2805910</li>									rs2805910	2
P10144	3002		<li>Q->R at 55: in dbSNP:rs8192917</li><li>P->A at 94: in dbSNP:rs11539752</li><li>Y->H at 247: in dbSNP:rs2236338</li>									<li>rs11539752</li><li>rs8192917</li><li>rs2236338</li>	2
P10153	6036		<li>H->N at 156: probably inactive</li>										2
P10163	5545		<li>Missing  at 113-154: in allele M and allele S</li><li>Missing  at 164-184: in allele S</li><li>R->G at 185: in dbSNP:rs11054244</li><li>P->R at 186: in dbSNP:rs11054243</li><li>P->H at 200: in dbSNP:rs12308244</li><li>P->A at 272: in dbSNP:rs1052808</li>									<li>rs11054243</li><li>rs1052808</li><li>rs11054244</li><li>rs12308244</li>	2
P10242	4602		<li>T->I at 336: in dbSNP:rs2229999</li><li>T->N at 422: in dbSNP:rs2230000</li>									<li>rs2230000</li><li>rs2229999</li>	2
P10244	4605		<li>N->S at 341: in dbSNP:rs6017146</li><li>S->G at 427: in dbSNP:rs2070235</li><li>V->M at 595: in dbSNP:rs7660</li><li>I->M at 624: in dbSNP:rs11556379</li>									<li>rs11556379</li><li>rs7660</li><li>rs2070235</li><li>rs6017146</li>	2
P10314			<li>RN->GK at 89-90: in allele A*3205</li><li>S->N at 101: in allele A*3203</li><li>M->I at 121: in allele A*3204</li><li>P->S at 129: in allele A*3204</li><li>L->F at 133: in allele A*3204</li><li>Q->R at 138: in allele A*3204</li><li>Q->K at 168: in allele A*3204</li><li>R->H at 175: in allele A*3202, allele A*3204 and allele A*3206</li><li>V->E at 176: in allele A*3204</li><li>L->Q at 180: in allele A*3202</li><li>E->D at 185: in allele A*3204</li>										2
P10319			<li>G->E at 86: in allele B*5804</li><li>II->TL at 118-119: in allele B*5802</li><li>R->W at 121: in allele B*5802</li><li>W->L at 171: in allele B*5805</li><li>V->A at 176: in allele B*5805</li><li>L->T at 187: in allele B*5805; requires 2 nucleotide substitutions</li>										2
P10321	3107		<li>E->K at 43: in dbSNP:rs1050438</li><li>A->E at 73: in dbSNP:rs1050409</li><li>V->M at 76: in dbSNP:rs1065382</li><li>K->N at 90: in allele Cw*0701; dbSNP:rs28626310</li><li>A->T at 97: in dbSNP:rs41543814</li><li>S->N at 101: in allele Cw*0709; dbSNP:rs2308557</li><li>N->K at 104: in allele Cw*0709; dbSNP:rs17408553</li><li>L->F at 119: in allele Cw*0704 and allele Cw*0711: in dbSNP rsrs1071649</li><li>S->Y at 123: in allele Cw*0701: in dbSNP rsrs1131115</li><li>Y->H at 137: in dbSNP:rs2308574</li><li>S->F at 140: in allele Cw*0704 and allele Cw*0711: in dbSNP rsrs713032</li><li>L->W at 171: in allele Cw*0703; dbSNP:rs1050366</li><li>L->D at 180: in allele Cw*0704 and allele Cw*0711; requires 2 nucleotide substitutions</li><li>A->V at 182: in dbSNP:rs1059539</li><li>T->L at 187: in allele Cw*0703; requires 2 nucleotide substitutions</li><li>E->K at 201: in allele Cw*0704 and allele Cw0711; dbSNP:rs1131103</li><li>V->M at 272: in dbSNP:rs1050276</li><li>V->I at 328: in dbSNP:rs1050118</li><li>A->V at 330: in dbSNP:rs1050105</li><li>M->K at 331: in allele Cw*0706: in dbSNP rsrs41542414</li><li>M->V at 331: in dbSNP:rs1130935</li><li>A->V at 348: in allele Cw*0706: in dbSNP rsrs41559915</li><li>T->A at 363: in allele Cw*0711: in dbSNP rsrs1130838</li>									<li>rs28626310</li><li>rs1130935</li><li>rs1065382</li><li>rs713032</li><li>rs2308557</li><li>rs41543814</li><li>rs2308574</li><li>rs1050438</li><li>rs17408553</li><li>rs1050105</li><li>rs1130838</li><li>rs1050366</li><li>rs1050409</li><li>rs1050118</li><li>rs41559915</li><li>rs41542414</li><li>rs1059539</li><li>rs1131103</li><li>rs1050276</li><li>rs1131115</li><li>rs1071649</li>	2
P10323	49		<li>L->V at 120: in dbSNP:rs1064734</li><li>F->L at 166: in dbSNP:rs1064735</li>									<li>rs1064735</li><li>rs1064734</li>	2
P10398	369		<li>M->T at 98: in dbSNP rsrs56197559</li><li>G->C at 331: in a colorectal adenocarcinoma sample; somatic mutation</li><li>E->D at 578: in dbSNP rsrs55852926</li>									<li>rs56197559</li><li>rs55852926</li>	2
P10412	3008		<li>A->V at 128: in a colorectal cancer sample; somatic mutation</li><li>K->R at 152: in dbSNP:rs2298090</li>									rs2298090	2
P10451	6696		<li>S->N at 224: in dbSNP:rs7435825</li><li>R->H at 301: in dbSNP:rs4660</li>									<li>rs4660</li><li>rs7435825</li>	2
P10515	1737		<li>A->V at 43: in dbSNP:rs2303436</li><li>S->F at 98: in dbSNP:rs537057</li><li>L->F at 99: in dbSNP:rs537060</li><li>Q->R at 209: in dbSNP:rs11553595</li><li>D->V at 313: in dbSNP:rs11553592</li><li>V->A at 318: in dbSNP:rs627441</li><li>D->N at 451: in dbSNP:rs10891314</li>									<li>rs2303436</li><li>rs10891314</li><li>rs537060</li><li>rs627441</li><li>rs11553595</li><li>rs11553592</li><li>rs537057</li>	2
P10523	6295		<li>I->V at 76: in dbSNP:rs7565275</li><li>R->C at 84</li><li>T->M at 125</li><li>P->L at 364</li><li>V->I at 378</li><li>R->C at 384</li><li>V->A at 403: in dbSNP:rs1046976</li><li>V->I at 403: in dbSNP:rs1046974</li>									<li>rs7565275</li><li>rs1046976</li><li>rs1046974</li>	2
P10600	7043		<li>T->M at 60: in dbSNP:rs4252315</li>									rs4252315	2
P10632	1558		<li>R->K at 139: in allele CYP2C8*3; dbSNP:rs11572080</li><li>E->D at 154: in MP-12</li><li>N->K at 193: in MP-20</li><li>I->V at 244: in dbSNP:rs11572102</li><li>K->R at 249: in MP-12</li><li>I->M at 264: in allele CYP2C8*4; dbSNP:rs1058930</li><li>I->F at 269: in allele CYP2C8*2; only found in African-Americans; dbSNP:rs11572103</li><li>L->S at 390</li><li>K->R at 399: in allele CYP2C8*3; dbSNP:rs10509681</li><li>H->L at 411: in MP-20</li>							P10632		<li>rs1058930</li><li>rs11572103</li><li>rs11572102</li><li>rs11572080</li><li>rs10509681</li>	2
P10635			<li>V->M at 11: in allele CYP2D6*35; dbSNP:rs769258</li><li>R->H at 26: in allele CYP2D6*21 and allele CYP2D6*46; dbSNP:rs28371696</li><li>R->C at 28: in allele CYP2D6*22</li><li>P->S at 34: in allele CYP2D6*10 and allele CYP2D6*14; poor debrisquone metabolism; dbSNP:rs1065852</li><li>G->R at 42: in allele CYP2D6*12; impaired metabolism of sparteine; dbSNP:rs5030862</li><li>A->V at 85: in allele CYP2D6*23</li><li>L->M at 91: in dbSNP:rs28371703</li><li>H->R at 94: in dbSNP:rs28371704</li><li>T->I at 107: in allele CYP2D6*17; poor debrisquone metabolism; dbSNP:rs28371706</li><li>F->I at 120: in dbSNP:rs1135822</li><li>E->K at 155: in allele CYP2D6*45A, allele CYP2D6*45B and allele CYP2D6*46; dbSNP:rs28371710</li><li>G->R at 169: in allele CYP2D6*14; poor debrisquone metabolism</li><li>G->E at 212: in allele CYP2D6*6B and allele CYP2D6*6C; dbSNP:rs5030866</li><li>L->P at 231: in dbSNP:rs17002853</li><li>A->S at 237: in allele CYP2D6*33; dbSNP:rs28371717</li><li>Missing  at 281: in allele CYP2D6*9</li><li>R->C at 296: in allele CYP2D6*2, allele CYP2D6*12, allele CYP2D6*14, allele CYP2D6*17, allele CYP2D6*45A, allele CYP2D6*45B and allele CYP2D6*46; dbSNP:rs16947</li><li>I->L at 297: in allele CYP2D6*24</li><li>A->G at 300: in dbSNP:rs1058170</li><li>S->L at 311: in dbSNP:rs1800754</li><li>H->P at 324: in allele CYP2D6*7; loss of activity; dbSNP:rs5030867</li><li>R->G at 343: in allele CYP2D6*25</li><li>R->H at 365: in dbSNP:rs1058172</li><li>I->T at 369: in allele CYP2D6*26</li><li>E->K at 410: in allele CYP2D6*27</li><li>E->K at 418</li><li>P->A at 469</li><li>H->Y at 478: in dbSNP:rs28371735</li><li>S->T at 486: in allele CYP2D6*2, allele CYP2D6*10, allele CYP2D6*12, allele CYP2D6*14, allele CYP2D6*17, allele CYP2D6*45A, allele CYP2D6*45B and allele CYP2D6*46; impaired metabolism of sparteine; dbSNP:rs1135840</li>							<li>P10635</li><li>Q2XNC8</li><li>Q2XNC9</li>		<li>rs1800754</li><li>rs1058170</li><li>rs1135822</li><li>rs28371735</li><li>rs28371704</li><li>rs28371703</li><li>rs1058172</li><li>rs17002853</li>	2
P10643	730		<li>C->R at 128: in dbSNP:rs2271708</li><li>R->Q at 220: in C7D, MIM: 217070</li><li>G->R at 379: in C7D, MIM: 217070</li><li>S->T at 389: in dbSNP:rs1063499, MIM: 217070</li><li>K->Q at 420: in dbSNP:rs3792646, MIM: 217070</li><li>R->S at 521: in C7D, MIM: 217070</li><li>T->P at 587: in dbSNP:rs13157656, MIM: 217070</li><li>E->Q at 682: in C7D, MIM: 217070</li><li>R->H at 687: in C7D, MIM: 217070</li>								Component C7 deficiency (C7D) [MIM:217070]	<li>rs13157656</li><li>rs2271708</li><li>rs1063499</li><li>rs3792646</li>	2
P10644	5573		<li>S->N at 9: in CNC1; exhibits increased PKA activity which is attributed to decreased binding to cAMP and/or the catalytic subunit, MIM: 160980</li><li>R->C at 74: in CNC1; exhibits increased PKA activity which is attributed to decreased binding to cAMP and/or the catalytic subunit, MIM: 160980</li><li>R->S at 146: in CNC1; exhibits increased PKA activity which is attributed to decreased binding to cAMP and/or the catalytic subunit, MIM: 160980</li><li>D->Y at 183: in CNC1; exhibits increased PKA activity which is attributed to decreased binding to cAMP and/or the catalytic subunit, MIM: 160980</li><li>A->D at 213: in CNC1; exhibits increased PKA activity which is attributed to decreased binding to cAMP and/or the catalytic subunit, MIM: 160980</li><li>G->W at 289: in CNC1; exhibits increased PKA activity which is attributed to decreased binding to cAMP and/or the catalytic subunit, MIM: 160980</li>			<li>binding</li><li>PKA</li>	<li>GO:0005488</li><li>GO:0004691</li>				Carney complex type 1 (CNC1) [MIM:160980]		2
P10645	1113		<li>R->Q at 61: in dbSNP:rs3742712</li><li>E->K at 176: in dbSNP:rs9658654</li><li>E->D at 264: in dbSNP:rs9658655</li><li>R->W at 271: in dbSNP:rs9658662</li><li>A->G at 274: in dbSNP:rs9658663</li><li>G->S at 315: in dbSNP:rs9658664</li><li>L->P at 332: in dbSNP:rs9658665</li><li>D->N at 369: in dbSNP:rs2228575</li><li>G->S at 382: reduces activity 4.7 fold; dbSNP:rs9658667</li><li>P->L at 388: increases activity 2.3 fold; dbSNP:rs9658668</li><li>R->W at 399: in dbSNP:rs729940</li>									<li>rs3742712</li><li>rs9658654</li><li>rs9658655</li><li>rs2228575</li><li>rs9658662</li><li>rs9658664</li><li>rs9658663</li><li>rs9658665</li><li>rs729940</li><li>rs9658668</li><li>rs9658667</li>	2
P10696	251		<li>Q->E at 34: in dbSNP:rs1048983</li><li>L->M at 273: in dbSNP:rs17416141</li><li>L->R at 316: in dbSNP:rs1048992</li><li>G->E at 527: in dbSNP:rs1048999</li>									<li>rs1048992</li><li>rs1048983</li><li>rs1048999</li><li>rs17416141</li>	2
P10745	5949		<li>R->H at 530: in a colorectal cancer sample; somatic mutation</li><li>V->M at 884: in dbSNP:rs11204213</li>									rs11204213	2
P10746	7390		<li>V->F at 3: in CEP; no residual activity, MIM: 263700</li><li>L->F at 4: in CEP, MIM: 263700</li><li>Y->C at 19: in CEP, MIM: 263700</li><li>S->P at 47: in CEP; less than 3% wild-type activity; severe cutaneous lesions, MIM: 263700</li><li>P->L at 53: in CEP; no detectable activity; severe phenotype, MIM: 263700</li><li>T->A at 62: in CEP; no detectable activity: in dbSNP rsrs28941775, MIM: 263700</li><li>A->V at 66: in CEP; residual activity; mild phenotype: in dbSNP rsrs28941774, MIM: 263700</li><li>A->T at 69: in CEP; less than 2% wild-type activity; moderately-severe phenotype, MIM: 263700</li><li>C->R at 73: in CEP; frequent mutation in Western countries; no detectable activity; severe phenotype, MIM: 263700</li><li>V->F at 82: in CEP; high residual activity; mild phenotype, MIM: 263700</li><li>V->A at 99: in CEP, MIM: 263700</li><li>A->V at 104: in CEP; residual activity, MIM: 263700</li><li>K->R at 124: in dbSNP:rs17153561, MIM: 263700</li><li>I->T at 129: in CEP; no residual activity, MIM: 263700</li><li>V->G at 171: in dbSNP:rs17173752, MIM: 263700</li><li>G->R at 188: in CEP; less than 5% wild-type activity, MIM: 263700</li><li>G->W at 188: in CEP; less than 2% wild-type activity; mild phenotype, MIM: 263700</li><li>EL->HIQSQAQSQAQ at 210-211: in CEP, MIM: 263700</li><li>S->P at 212: in CEP; no residual activity, MIM: 263700</li><li>I->S at 219: in CEP; less than 2% wild-type activity; moderately-severe phenotype, MIM: 263700</li><li>G->S at 225: in CEP, MIM: 263700</li><li>T->M at 228: in CEP; no detectable activity, MIM: 263700</li>								Congenital erythropoietic porphyria (CEP) [MIM:263700]	<li>rs17173752</li><li>rs17153561</li><li>rs28941774</li><li>rs28941775</li>	2
P10767	2251		<li>V->A at 36: in dbSNP:rs11613495</li><li>A->V at 63: in dbSNP:rs17183529</li><li>D->V at 174: in dbSNP:rs7961645</li><li>R->W at 191: in dbSNP:rs17183778</li>									<li>rs11613495</li><li>rs7961645</li><li>rs17183778</li><li>rs17183529</li>	2
P10768	2098		<li>G->E at 190: in allele ESD*2; dbSNP:rs9778</li><li>G->D at 257: in dbSNP:rs15303</li>							<li>Q9GJT2</li><li>P10768</li>		<li>rs15303</li><li>rs9778</li>	2
P10809	3329		<li>D->G at 29: in HLD4; transfection with the mutant protein impairs cell growth that worsens with increasing temperature, MIM: 612233</li><li>V->I at 98: in SPG13, MIM: 605280</li>								<li>Hypomyelinating leukodystrophy type 4 (HLD4) [MIM:612233]</li><li>Spastic paraplegia autosomal dominant type 13 (SPG13) [MIM:605280]</li>		2
P10826	5915		<li>V->I at 90: in a colorectal cancer sample; somatic mutation</li>										2
P10828	7068		<li>D->G at 216: in dbSNP:rs9865746</li><li>A->T at 234: in GTHR, MIM: 188570</li><li>R->W at 243: in GTHR, MIM: 188570</li><li>R->H at 316: in PRTH, MIM: 145650</li><li>A->T at 317: in GTHR, MIM: 188570</li><li>R->C at 320: in GTHR, MIM: 188570</li><li>R->H at 320: in GTHR, MIM: 188570</li><li>G->R at 332: in GTHR: in dbSNP rsrs28999969, MIM: 188570</li><li>T->I at 337: in dbSNP:rs1054624, MIM: 188570</li><li>Missing  at 337: in GTHR, MIM: 188570</li><li>R->W at 338: in GTHR, MIM: 188570</li><li>Q->H at 340: in GTHR, MIM: 188570</li><li>K->I at 342: in GTHR, MIM: 188570</li><li>G->R at 345: in GTHR, MIM: 188570</li><li>G->S at 345: in GTHR, MIM: 188570</li><li>G->V at 345: in GTHR: in dbSNP rsrs28999970, MIM: 188570</li><li>G->E at 347: in GTHR: in dbSNP rsrs28999971, MIM: 188570</li><li>V->E at 348: in GTHR, MIM: 188570</li><li>T->I at 426: in GTHR, MIM: 188570</li><li>R->H at 438: in GTHR, MIM: 188570</li><li>M->V at 442: in GTHR, MIM: 188570</li><li>K->E at 443: in GTHR, MIM: 188570</li><li>C->R at 446: in GTHR, MIM: 188570</li><li>P->H at 453: in GTHR, MIM: 188570</li><li>P->S at 453: in GTHR, MIM: 188570</li><li>P->T at 453: in GTHR; dbSNP:rs28933408, MIM: 188570</li>								<li>Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]</li><li>Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]</li>	<li>rs28999969</li><li>rs28933408</li><li>rs1054624</li><li>rs9865746</li><li>rs28999970</li><li>rs28999971</li>	2
P10909	1191		<li>N->H at 317: in dbSNP:rs9331936</li><li>D->N at 328: in dbSNP:rs9331938</li><li>S->L at 396: in dbSNP:rs13494</li>									<li>rs9331936</li><li>rs13494</li><li>rs9331938</li>	2
P10915	1404		<li>N->S at 281: in dbSNP:rs6864342</li><li>R->H at 333: in a colorectal cancer sample; somatic mutation</li>									rs6864342	2
P10916	4633		<li>A->T at 13: in MVC2, MIM: 608758</li><li>F->L at 18: in CMH10: in dbSNP rsrs28932774, MIM: 608758</li><li>E->K at 22: in CMH10 and MVC2, MIM: 608758</li><li>G->R at 57: in dbSNP:rs2428140, MIM: 608758</li><li>R->Q at 58: in CMH10, MIM: 608758</li><li>P->A at 95: in MVC2, MIM: 608758</li><li>D->V at 166: in CMH10, MIM: 608758</li>								<li>Cardiomyopathy hypertrophic with mid-left ventricular chamber type 2 (MVC2) [MIM:608758]</li><li>Cardiomyopathy familial hypertrophic type 10 (CMH10) [MIM:608758]</li>	<li>rs28932774</li><li>rs2428140</li>	2
P10997	3375		<li>S->G at 53: in dbSNP:rs1800203</li>									rs1800203	2
P11021	3309		<li>N->H at 543: in dbSNP rsrs35356639</li>									rs35356639	2
P11047	3915		<li>I->V at 458: in dbSNP:rs20563</li><li>E->K at 731: in dbSNP:rs2230157</li><li>L->P at 888: in dbSNP:rs20558</li><li>R->H at 1116: in a colorectal cancer sample; somatic mutation</li><li>R->Q at 1121: in dbSNP:rs20559</li>									<li>rs20563</li><li>rs20559</li><li>rs20558</li><li>rs2230157</li>	2
P11055	4621		<li>T->I at 178: in DA2A and DA2B, MIM: 601680</li><li>S->F at 261: in DA2B, MIM: 601680</li><li>S->C at 292: in DA2B, MIM: 601680</li><li>E->K at 375: in DA2B, MIM: 601680</li><li>E->G at 498: in DA2A, MIM: 193700</li><li>D->Y at 517: in DA2B, MIM: 601680</li><li>Y->S at 583: in DA2A, MIM: 193700</li><li>R->C at 672: in DA2A, MIM: 193700</li><li>R->H at 672: in DA2A, MIM: 193700</li><li>G->V at 769: in DA2B, MIM: 601680</li><li>V->D at 825: in DA2A, MIM: 193700</li><li>K->E at 838: in DA2B, MIM: 601680</li><li>Missing  at 841: in DA2B, MIM: 601680</li><li>R->C at 1137: in dbSNP:rs12941197, MIM: 601680</li><li>T->A at 1192: in dbSNP:rs2285477, MIM: 601680</li><li>D->A at 1622: in DA2B, MIM: 601680</li><li>A->V at 1637: in DA2B: in dbSNP rsrs34165480, MIM: 601680</li>								<li>Distal arthrogryposis type 2B (DA2B) [MIM:601680]</li><li>Distal arthrogryposis type 2A (DA2A) [MIM:193700]</li>	<li>rs34165480</li><li>rs12941197</li><li>rs2285477</li>	2
P11117	53		<li>R->Q at 29: in dbSNP:rs2167079</li><li>S->F at 320: in dbSNP:rs34425282</li><li>V->I at 402: in dbSNP:rs4647764</li>									<li>rs2167079</li><li>rs34425282</li><li>rs4647764</li>	2
P11137	4133		<li>A->G at 82: in dbSNP:rs2271251</li><li>E->G at 179: in dbSNP:rs6749066</li><li>E->D at 277: in a colorectal cancer sample; somatic mutation</li><li>R->K at 423: in dbSNP:rs741006</li><li>P->L at 705: in a colorectal cancer sample; somatic mutation</li><li>H->L at 976: in dbSNP:rs13425372</li><li>G->R at 991: in dbSNP:rs35927101</li><li>M->V at 1099: in dbSNP:rs17745550</li>									<li>rs13425372</li><li>rs35927101</li><li>rs2271251</li><li>rs17745550</li><li>rs6749066</li><li>rs741006</li>	2
P11142	3312		<li>D->Y at 32: in dbSNP:rs11551602</li><li>F->L at 459: in dbSNP:rs11551598</li>									<li>rs11551598</li><li>rs11551602</li>	2
P11150			<li>V->M at 95: in dbSNP:rs6078</li><li>V->VHYTVAV at 134: in HL deficiency</li><li>N->S at 215: in dbSNP:rs6083</li><li>S->F at 289: in HL deficiency, MIM: 151670</li><li>V->I at 342, MIM: 151670</li><li>L->F at 356: in dbSNP:rs3829462, MIM: 151670</li><li>T->M at 405: in HL deficiency, MIM: 151670</li><li>D->A at 409, MIM: 151670</li><li>S->N at 440: in dbSNP:rs6079, MIM: 151670</li>								Hepatic lipase deficiency (HL deficiency) [MIM:151670]	<li>rs6083</li><li>rs6078</li><li>rs6079</li><li>rs3829462</li>	2
P11166	6513		<li>N->I at 34: in GLUT1 deficiency</li><li>N->S at 34: in GLUT1 deficiency; 55% of wild-type glucose uptake activity</li><li>S->F at 66: in GLUT1 deficiency</li><li>G->D at 91: in GLUT1 deficiency; significantly decreases the transport of 3-O-methyl-D-glucose</li><li>R->C at 126: in GLUT1 deficiency</li><li>R->H at 126: in GLUT1 deficiency; significantly decreases the transport of 3-O-methyl-D-glucose and dehydroascorbic acid; 57% of wild-type glucose uptake activity</li><li>R->L at 126: in GLUT1 deficiency; compound heterozygote with V-256</li><li>G->S at 130: in GLUT1 deficiency; 75% of wild-type glucose uptake activity</li><li>E->K at 146: in GLUT1 deficiency</li><li>R->C at 153: in GLUT1 deficiency; 44% of wild-type glucose uptake activity</li><li>Missing  at 169: in GLUT1 deficiency; 48% of wild-type glucose uptake activity</li><li>K->E at 256: in GLUT1 deficiency; compound heterozygote with L-126</li><li>A->T at 275: in DYT18; the mutation decreases glucose transport but does not affect cation permeability, MIM: 612126</li><li>Missing  at 282-285: in DYT18; accompanied by hemolytic anemia and altered erythrocyte ion concentrations; the mutation decreases glucose transport and causes a cation leak that alteres intracellular concentrations of sodium potassium and calcium, MIM: 612126</li><li>T->M at 295: in GLUT1 deficiency; 75% of wild-type glucose uptake activity, MIM: 612126</li><li>T->I at 310: in GLUT1 deficiency, MIM: 612126</li><li>G->S at 314: in DYT18; the mutation decreases glucose transport but does not affect cation permeability, MIM: 612126</li><li>R->W at 333: in GLUT1 deficiency; 43% of wild-type glucose uptake activity, MIM: 612126</li>	<li>glucose transport</li><li>transport</li>	<li>GO:0015758</li><li>GO:0006810</li>			intracellular	GO:0005622	<li>P79365</li><li>P13355</li><li>P11166</li><li>P20303</li><li>P46896</li><li>P27674</li>	Dystonia type 18 (DYT18) [MIM:612126]		2
P11168	6514		<li>P->L at 68: in dbSNP:rs7637863</li><li>V->I at 101: in dbSNP:rs1800572</li><li>T->I at 110: in dbSNP:rs5400</li><li>V->I at 197: in NIDDM; abolishes transport activity of the transporter expressed in Xenopus oocytes</li><li>L->P at 389: in FBS, MIM: 227810</li><li>I->T at 404: in dbSNP:rs2229608, MIM: 227810</li><li>P->L at 417: in FBS, MIM: 227810</li><li>V->E at 423: in FBS: in dbSNP rsrs28928874, MIM: 227810</li><li>L->V at 478: in dbSNP:rs5397, MIM: 227810</li>	transport	GO:0006810					<li>P62706</li><li>Q9NRD0</li><li>Q9HAH7</li>	Fanconi-Bickel syndrome (FBS) [MIM:227810]	<li>rs28928874</li><li>rs2229608</li><li>rs5400</li><li>rs5397</li><li>rs1800572</li><li>rs7637863</li>	2
P11169	6515		<li>V->L at 85: in dbSNP:rs17728193</li>									rs17728193	2
P11177	5162		<li>L->V at 31</li><li>Y->C at 132: in PDHE1 deficiency; dbSNP:rs28935769, MIM: 312170</li><li>P->S at 344: in PDHE1 deficiency; dbSNP:rs28933391, MIM: 312170</li>								Pyruvate dehydrogenase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	<li>rs28933391</li><li>rs28935769</li>	2
P11182	1629		<li>I->M at 98: in MSUD2, MIM: 248600</li><li>F->C at 276: in MSUD2, MIM: 248600</li><li>G->S at 384: in MSUD2; dbSNP:rs12021720, MIM: 248600</li>								Maple syrup urine disease type 2 (MSUD2) [MIM:248600]	rs12021720	2
P11215	3684		<li>R->H at 77: influences susceptibility to SLE; dbSNP:rs1143679</li><li>M->T at 441: in dbSNP:rs11861251</li><li>A->V at 858: in dbSNP:rs1143683</li><li>P->S at 1146: in dbSNP:rs1143678</li>									<li>rs1143679</li><li>rs11861251</li><li>rs1143678</li><li>rs1143683</li>	2
P11216	5834		<li>A->S at 303: in dbSNP:rs2228976</li><li>D->N at 502: in dbSNP:rs2227891</li>									<li>rs2228976</li><li>rs2227891</li>	2
P11217	5837		<li>L->P at 116: in GSD5, MIM: 232600</li><li>R->W at 194: in GSD5, MIM: 232600</li><li>G->S at 205: in GSD5, MIM: 232600</li><li>L->P at 292: in GSD5; rare mutation, MIM: 232600</li><li>E->K at 349: in GSD5, MIM: 232600</li><li>L->P at 397: in GSD5, MIM: 232600</li><li>T->N at 488: in GSD5, MIM: 232600</li><li>K->T at 543: in GSD5, MIM: 232600</li><li>R->W at 602: in GSD5, MIM: 232600</li><li>E->K at 655: in GSD5, MIM: 232600</li><li>A->D at 660: in GSD5, MIM: 232600</li><li>Q->E at 666: in GSD5, MIM: 232600</li><li>N->Y at 685: in GSD5, MIM: 232600</li><li>G->R at 686: in GSD5, MIM: 232600</li><li>A->P at 687: in GSD5, MIM: 232600</li><li>A->V at 704: in GSD5, MIM: 232600</li><li>Missing  at 709: in GSD5; common in Japanese patients, MIM: 232600</li><li>W->R at 798: in GSD5, MIM: 232600</li>								Glycogen storage disease type 5 (GSD5) [MIM:232600]		2
P11226	4153		<li>T->A at 24: in Chinese</li><li>R->C at 52: in 0.05% of European and African populations; dbSNP:rs5030737</li><li>G->D at 54: in Caucasian and Chinese populations; dbSNP:rs1800450</li><li>G->E at 57: in West African population; dbSNP:rs1800451</li><li>N->Y at 214: in dbSNP:rs12260094</li>									<li>rs1800451</li><li>rs12260094</li><li>rs1800450</li><li>rs5030737</li>	2
P11230	1140		<li>E->G at 32: in dbSNP:rs17856697</li><li>L->M at 285: in SCCMS, MIM: 601462</li><li>V->M at 289: in SCCMS, MIM: 601462</li><li>Missing  at 449-451: in ACHRDCMS; impairs AChR assembly by disrupting a specific interaction between beta and delta subunits, MIM: 601462</li>								Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]	rs17856697	2
P11245	10		<li>L->I at 24: in dbSNP:rs45477599</li><li>R->Q at 64: in allele NAT2*14A, allele NAT2*14B, allele NAT2*14C, allele NAT2*14D, allele NAT2*14E, allele NAT2*14F and allele NAT2*14G; a slow acetylator; dbSNP:rs1801279</li><li>R->W at 64: in allele NAT2*19; dbSNP:rs1805158</li><li>I->T at 114: in allele NAT2*5A, allele NAT2*5B, allele NAT2*5C, allele NAT2*5D, allele NAT2*5E, allele NAT2*5F, allele NAT2*14B and allele NAT2*14E; a slow acetylator; dbSNP:rs1801280</li><li>D->N at 122: in dbSNP:rs4986996</li><li>L->V at 135: in dbSNP:rs12720065</li><li>L->F at 137: in dbSNP:rs4986997</li><li>Q->P at 145: in allele NAT2*17</li><li>T->M at 193</li><li>R->Q at 197: in allele NAT2*5E, allele NAT2*6A, allele NAT2*6B, allele NAT2*6C, allele NAT2*6D and allele NAT2*14D; a slow acetylator; dbSNP:rs1799930</li><li>Y->H at 208: in dbSNP:rs56387565</li><li>P->L at 228: in dbSNP:rs45518335</li><li>K->R at 268: in allele NAT2*5B, allele NAT2*5C, allele NAT2*5F, allele NAT2*6C, allele NAT2*12A, allele NAT2*14B, allele NAT2*14C, allele NAT2*14E, allele NAT2*14F and allele NAT2*14G; dbSNP:rs1208</li><li>K->T at 282: in allele NAT2*18; dbSNP:rs56054745</li><li>G->E at 286: in allele NAT2*7A and allele NAT2*7B; a slow acetylator; dbSNP:rs1799931</li>							<li>P11246</li><li>P11245</li><li>P37293</li><li>Q7YRG5</li><li>P50293</li><li>Q6N069</li>		<li>rs1801279</li><li>rs4986997</li><li>rs56054745</li><li>rs4986996</li><li>rs45477599</li><li>rs1801280</li><li>rs1799931</li><li>rs12720065</li><li>rs45518335</li><li>rs1799930</li><li>rs56387565</li><li>rs1805158</li><li>rs1208</li>	2
P11277	6710		<li>W->R at 202: in HS; Kissimmee</li><li>S->N at 439: in dbSNP:rs229587</li><li>S->I at 613: in dbSNP:rs3742601</li><li>N->D at 1151: in dbSNP:rs77806</li><li>H->R at 1374: in dbSNP:rs10132778</li><li>R->Q at 1403: in dbSNP:rs17180350</li><li>G->R at 1408: in dbSNP:rs17245552</li><li>A->G at 2018: in EL3; Cagliary, MIM: 182870</li><li>S->P at 2019: in EL3; Providence, MIM: 182870</li><li>A->V at 2023: in EL3; Paris, MIM: 182870</li><li>W->R at 2024: in EL3; Linguere, MIM: 182870</li><li>L->R at 2025: in EL3; Buffalo, MIM: 182870</li><li>A->P at 2053: in EL3; Kayes, MIM: 182870</li>								Elliptocytosis type 3 (EL3) [MIM:182870]	<li>rs10132778</li><li>rs17245552</li><li>rs77806</li><li>rs3742601</li><li>rs229587</li><li>rs17180350</li>	2
P11279	3916		<li>I->T at 309: in dbSNP:rs9577230</li>									rs9577230	2
P11309	5292		<li>Y->H at 144: in a colorectal adenocarcinoma sample; somatic mutation</li><li>E->Q at 215</li><li>E->K at 226</li><li>E->D at 233</li>										2
P11413	2539		<li>V->L at 12: in Sinnai</li><li>H->R at 32: in CSNA; Gahoe; class III; frequent in Chinese</li><li>Missing  at 35: in CNSHA; Sunderland; class I</li><li>A->G at 44: in Orissa; class III; frequent in Indian tribal populations</li><li>I->T at 48: in Aures; class II</li><li>D->N at 58: in Metaponto; class III</li><li>V->M at 68: in A: in dbSNP rsrs1050828</li><li>Y->H at 70: in Namoru; 4% activity</li><li>L->P at 75: in Swansea; class I</li><li>R->C at 81: in Konan/Ube; class III</li><li>R->H at 81: in Lagosanto; class III</li><li>S->C at 106: in Vancouver; class I</li><li>N->D at 126: in A: in dbSNP rsrs1050829</li><li>L->P at 128: in Vanua Lava; 4% activity</li><li>G->V at 131: in Chinese-4</li><li>E->K at 156: in Ilesha; class III</li><li>G->D at 163: in Plymouth; class I</li><li>G->S at 163: in Mahidol; class III</li><li>N->D at 165: in Chinese-3; class II</li><li>R->H at 166: in Naone; 1% activity</li><li>D->G at 176: in Shinshu; class I</li><li>D->V at 181: in Santa Maria; class I: in dbSNP rsrs5030872</li><li>R->W at 182: in Vancouver; class I</li><li>S->F at 188: in Sassari/Cagliari; class II; frequent in the Mediterranean: in dbSNP rsrs5030868</li><li>R->C at 198: in Coimbra; class II</li><li>R->P at 198: in CNSHA; Santiago; class I, MIM: 305900</li><li>M->V at 212: in Sibari; class III, MIM: 305900</li><li>V->L at 213: in Minnesota; class I, MIM: 305900</li><li>F->L at 216: in Harilaou; class I, MIM: 305900</li><li>R->L at 227: in A- type 2; class III, MIM: 305900</li><li>R->Q at 227: in Mexico City; class III, MIM: 305900</li><li>Missing  at 242-243: in Stonybrook; class I, MIM: 305900</li><li>R->G at 257: in Wayne; class I, MIM: 305900</li><li>E->K at 274: in Corum; class I, MIM: 305900</li><li>S->F at 278: in Wexham; class I, MIM: 305900</li><li>T->S at 279: in Chinese-1; class II, MIM: 305900</li><li>D->H at 282: in Seattle; class III, MIM: 305900</li><li>R->H at 285: in Montalbano; class III, MIM: 305900</li><li>V->M at 291: in Viangchan/Jammu; class II, MIM: 305900</li><li>E->K at 317: in Kalyan/Kerala; class III, MIM: 305900</li><li>Y->H at 322: in Rehovot, MIM: 305900</li><li>L->P at 323: in A- type 3; class III, MIM: 305900</li><li>A->T at 335: in Chatham; class III: in dbSNP rsrs5030869, MIM: 305900</li><li>L->F at 342: in Chinese-5, MIM: 305900</li><li>P->S at 353: in Ierapetra; class II, MIM: 305900</li><li>N->K at 363: in Loma Linda; class I, MIM: 305900</li><li>C->R at 385: in Tomah; class I, MIM: 305900</li><li>K->E at 386: in Iowa; class I, MIM: 305900</li><li>R->C at 387: in CNSHA; Guadajalara and Mount Sinai; class I, MIM: 305900</li><li>R->H at 387: in Beverly Hills; class I, MIM: 305900</li><li>R->H at 393: in Nashville/Anaheim; class I, MIM: 305900</li><li>V->L at 394: in CNSHA; Alhambra; class I, MIM: 305900</li><li>P->L at 396: in Bari; class I, MIM: 305900</li><li>E->K at 398: in Puerto Limon; class I, MIM: 305900</li><li>G->C at 410: in Riverside; class I, MIM: 305900</li><li>G->D at 410: in CNSHA; Japan; class I, MIM: 305900</li><li>E->K at 416: in Tokyo; class I, MIM: 305900</li><li>R->P at 439: in CNSHA; Pawnee; class I, MIM: 305900</li><li>L->F at 440: in Telti/Kobe; class I, MIM: 305900</li><li>G->R at 447: in Santiago de Cuba; class I, MIM: 305900</li><li>Q->H at 449: in Cassano; class II, MIM: 305900</li><li>R->C at 454: in Chinese-II/Maewo/Union; class II, <1% activity, MIM: 305900</li><li>R->H at 454: in Andalus; class I, MIM: 305900</li><li>R->L at 459: in Canton; class II; frequent in China, MIM: 305900</li><li>R->P at 459: in Cosenza; class II, MIM: 305900</li><li>R->H at 463: in Kaiping; class II, MIM: 305900</li><li>G->V at 488: in Campinas; class I, MIM: 305900</li>								Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900]	<li>rs5030869</li><li>rs5030868</li><li>rs5030872</li><li>rs1050829</li><li>rs1050828</li>	2
P11465	5670		<li>V->L at 20: in dbSNP:rs3887660</li><li>T->A at 176: in dbSNP:rs16976431</li><li>Q->L at 179: in dbSNP:rs1058086</li><li>T->R at 335: in dbSNP:rs1064937</li>									<li>rs1064937</li><li>rs3887660</li><li>rs16976431</li><li>rs1058086</li>	2
P11487	2248		<li>S->P at 156: in congenital deafness with inner ear agenesis microtia and microdontia</li>										2
P11488	2779		<li>G->D at 38: in CSNBAD3; in the Nougaret family descendants, MIM: 610444</li>								Congenital stationary night blindness autosomal dominant type 3 (CSNBAD3) [MIM:610444]		2
P11509	1548		<li>G->R at 5: in allele CYP2A6*13: in dbSNP rsrs28399434</li><li>S->N at 29: in allele CYP2A6*14: in dbSNP rsrs28399435</li><li>V->L at 110: in allele CYP2A6*24</li><li>F->L at 118: in allele CYP2A6*25 and allele CYP2A6*26: in dbSNP rsrs28399440</li><li>R->L at 128: in allele CYP2A6*26</li><li>R->Q at 128: in allele CYP2A6*6; loss of activity; dbSNP:rs4986891</li><li>S->A at 131: in allele CYP2A6*26: in dbSNP rsrs59552350</li><li>L->H at 160: in allele CYP2A6*2; unable to catalyze 7-hydroxylation of coumarin; causes switching from coumarin 7-hydroxylation to 3-hydroxylation; dbSNP:rs1801272</li><li>K->E at 194: in allele CYP2A6*15</li><li>R->C at 203: in allele CYP2A6*23; greatly reduced activity toward nicotine C-oxidation as well as reduced coumarin 7-hydroxylation</li><li>R->S at 203: in allele CYP2A6*16: in dbSNP rsrs56256500</li><li>S->P at 224</li><li>T->S at 294: in dbSNP:rs4997557</li><li>V->M at 365: in allele CYP2A6*17: in dbSNP rsrs28399454</li><li>Y->F at 392: in dbSNP:rs1809810</li><li>N->D at 418: in allele CYP2A6*28: in dbSNP rsrs28399463</li><li>E->D at 419: in allele CYP2A6*28; dbSNP:rs8192730</li><li>N->Y at 438: in allele CYP2A6*24</li><li>I->T at 471: in allele CYP2A6*7; dbSNP:rs5031016</li><li>K->R at 476: in dbSNP:rs6413474</li><li>G->V at 479: in allele CYP2A6*5; loss of activity; dbSNP:rs5031017</li><li>R->L at 485: in allele CYP2A6*8: in dbSNP rsrs28399468</li>							P11509		<li>rs4997557</li><li>rs4986891</li><li>rs59552350</li><li>rs1801272</li><li>rs28399463</li><li>rs5031017</li><li>rs56256500</li><li>rs28399435</li><li>rs5031016</li><li>rs28399434</li><li>rs1809810</li><li>rs6413474</li><li>rs28399454</li><li>rs28399440</li><li>rs28399468</li><li>rs8192730</li>	2
P11511	1588		<li>W->R at 39: in dbSNP:rs2236722</li><li>T->M at 201: in dbSNP:rs28757184</li><li>R->C at 264: in dbSNP:rs700519</li><li>R->Q at 365: in AROD; 0.4% of wild-type activity, MIM: 107910</li><li>R->C at 375: in AROD, MIM: 107910</li><li>R->L at 375, MIM: 107910</li><li>R->C at 435: in AROD; 1.1% of wild-type activity, MIM: 107910</li><li>C->Y at 437: in AROD; complete loss of activity, MIM: 107910</li>								Aromatase deficiency (AROD) [MIM:107910]	<li>rs700519</li><li>rs28757184</li><li>rs2236722</li>	2
P11532	1756		<li>K->N at 18: in CMD3B, MIM: 302045</li><li>Missing  at 32-62: in BMD, MIM: 302045</li><li>L->R at 54: in DMD, MIM: 310200</li><li>Q->P at 133: in dbSNP:rs1800256, MIM: 310200</li><li>D->V at 165: in one patient with Becker muscular dystrophy, MIM: 310200</li><li>A->D at 168: in BMD, MIM: 300376</li><li>A->P at 171: in BMD, MIM: 300376</li><li>Y->N at 231: in BMD, MIM: 300376</li><li>T->A at 279: in CMD3B, MIM: 302045</li><li>L->F at 334: in a colorectal cancer sample; somatic mutation, MIM: 302045</li><li>Q->H at 365: in dbSNP:rs1800266, MIM: 302045</li><li>Missing  at 495-534: in BMD, MIM: 302045</li><li>L->I at 623: in dbSNP:rs1800259, MIM: 302045</li><li>D->G at 645: in DMD, MIM: 310200</li><li>K->E at 773: in DMD, MIM: 310200</li><li>A->G at 784: in dbSNP:rs1800260, MIM: 310200</li><li>G->D at 882: in dbSNP:rs228406, MIM: 310200</li><li>V->F at 1197: in dbSNP:rs1800262, MIM: 310200</li><li>E->Q at 1219: in a breast cancer sample; somatic mutation, MIM: 310200</li><li>T->I at 1245: in dbSNP:rs1800269, MIM: 310200</li><li>A->P at 1278: in dbSNP:rs1800270, MIM: 310200</li><li>K->N at 1377: in dbSNP:rs1800263, MIM: 310200</li><li>Q->L at 1469: in dbSNP:rs1057872, MIM: 310200</li><li>R->H at 1470: in a breast cancer sample; somatic mutation, MIM: 310200</li><li>N->K at 1672: in CMD3B: in dbSNP rsrs16990264, MIM: 302045</li><li>R->H at 1745: in dbSNP:rs1801187, MIM: 302045</li><li>R->S at 1844: in dbSNP:rs1801186, MIM: 302045</li><li>R->W at 2155: in dbSNP:rs1800273, MIM: 302045</li><li>A->V at 2164: in a colorectal cancer sample; somatic mutation, MIM: 302045</li><li>R->W at 2191, MIM: 302045</li><li>N->T at 2299, MIM: 302045</li><li>Missing  at 2305-2366: in DMD, MIM: 302045</li><li>K->Q at 2366: in dbSNP:rs1800275, MIM: 302045</li><li>E->V at 2910: in dbSNP rsrs41305353, MIM: 302045</li><li>N->D at 2912: in dbSNP:rs1800278, MIM: 302045</li><li>H->R at 2921: in BMD; dbSNP:rs1800279, MIM: 300376</li><li>Q->R at 2937: in dbSNP:rs1800280, MIM: 300376</li><li>F->L at 3228: in CMD3B, MIM: 302045</li><li>C->F at 3313: in one patient with Duchenne muscular dystrophy, MIM: 302045</li><li>D->H at 3335: in DMD, MIM: 310200</li><li>C->Y at 3340: in DMD, MIM: 310200</li><li>A->V at 3421: in BMD, MIM: 300376</li>							<li>P11533</li><li>O97592</li><li>P11532</li><li>Q5GN48</li>	<li>Cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:302045]</li><li>Duchenne muscular dystrophy (DMD) [MIM:310200]</li><li>Becker muscular dystrophy (BMD) [MIM:300376]</li>	<li>rs16990264</li><li>rs1057872</li><li>rs1801187</li><li>rs1801186</li><li>rs228406</li><li>rs1800270</li><li>rs1800262</li><li>rs1800263</li><li>rs1800273</li><li>rs1800260</li><li>rs1800275</li><li>rs1800266</li><li>rs1800259</li><li>rs1800278</li><li>rs1800279</li><li>rs41305353</li><li>rs1800280</li><li>rs1800256</li><li>rs1800269</li>	2
P11678	8288		<li>V->I at 35: in dbSNP:rs34553736</li><li>I->M at 40: in dbSNP:rs11079339</li><li>Q->H at 122: in dbSNP:rs11652709</li><li>A->E at 249: in dbSNP rsrs35896669</li><li>K->R at 276: in dbSNP rsrs35074452</li><li>R->H at 286: in EPD, MIM: 261500</li><li>P->L at 292: in dbSNP:rs33971258, MIM: 261500</li><li>R->P at 326: in dbSNP rsrs35832094, MIM: 261500</li><li>P->L at 358: in dbSNP:rs35135976, MIM: 261500</li><li>R->H at 364: in dbSNP rsrs35232062, MIM: 261500</li><li>K->T at 441: in dbSNP:rs35750729, MIM: 261500</li><li>V->M at 458: in dbSNP:rs34817773, MIM: 261500</li><li>H->Q at 496: in dbSNP:rs33955150, MIM: 261500</li><li>N->Y at 572: in dbSNP:rs2302311, MIM: 261500</li>							<li>Q91130</li><li>Q90399</li><li>P38528</li><li>P17561</li><li>P32187</li><li>P32188</li>	Eosinophil peroxidase deficiency (EPD) [MIM:261500]	<li>rs11079339</li><li>rs35232062</li><li>rs35135976</li><li>rs2302311</li><li>rs34817773</li><li>rs35074452</li><li>rs35896669</li><li>rs35750729</li><li>rs33955150</li><li>rs34553736</li><li>rs35832094</li><li>rs11652709</li><li>rs33971258</li>	2
P11684	7356		<li>R->G at 56: in dbSNP:rs1802634</li><li>T->A at 68: in dbSNP:rs1802632</li>									<li>rs1802634</li><li>rs1802632</li>	2
P11686	6440		<li>E->K at 66: in SMDP2; targeted abnormally to early endosomes and likely to result in a toxic gain of function, MIM: 610913</li><li>I->T at 73: in SMDP2; abnormal trafficking and accumulation of aberrantly processed proSPC within alveoli, MIM: 610913</li><li>A->D at 116: in SMDP2, MIM: 610913</li><li>N->T at 138: influences susceptibility to RDS in premature infants; dbSNP:rs4715, MIM: 610913</li><li>R->Q at 167: in SMDP2; dbSNP:rs34957318, MIM: 610913</li><li>N->S at 186: influences susceptibility to RDS in premature infants; dbSNP:rs1124, MIM: 610913</li><li>L->Q at 188: in SMDP2, MIM: 610913</li>					endosomes	GO:0005768	<li>P52204</li><li>P17810</li><li>P23942</li><li>P35906</li><li>O42281</li>	Pulmonary surfactant metabolism dysfunction type 2 (SMDP2) [MIM:610913]	<li>rs1124</li><li>rs34957318</li><li>rs4715</li>	2
P11712	1559		<li>L->I at 19: in allele CYP2C9*7</li><li>R->C at 144: in allele CYP2C9*2; dbSNP:rs1799853</li><li>R->H at 150: in allele CYP2C9*8; dbSNP:rs7900194</li><li>H->R at 251: in allele CYP2C9*9; dbSNP:rs2256871</li><li>E->G at 272: in allele CYP2C9*10; dbSNP:rs9332130</li><li>R->W at 335: in allele CYP2C9*11: in dbSNP rsrs28371685</li><li>Y->C at 358: in dbSNP:rs1057909</li><li>I->L at 359: in allele CYP2C9*3; responsible for the tolbutamide poor metabolizer phenotype; dbSNP:rs1057910</li><li>I->T at 359: in allele CYP2C9*4: in dbSNP rsrs56165452</li><li>D->E at 360: in allele CYP2C9*5; increases the K: in dbSNP rsrs28371686</li><li>L->P at 413: in dbSNP rsrs28371687</li><li>G->D at 417</li><li>P->S at 489: in allele CYP2C9*12; dbSNP:rs9332239</li>							P11712		<li>rs9332130</li><li>rs7900194</li><li>rs9332239</li><li>rs2256871</li><li>rs1799853</li><li>rs1057910</li><li>rs1057909</li><li>rs56165452</li><li>rs28371685</li><li>rs28371686</li><li>rs28371687</li>	2
P11717	3482		<li>R->H at 91: in dbSNP:rs8191704</li><li>P->L at 203: in dbSNP:rs8191746</li><li>G->D at 231: in dbSNP:rs8191753</li><li>L->V at 252: in dbSNP:rs8191754</li><li>D->G at 273: in dbSNP:rs8191758</li><li>K->Q at 512: in dbSNP:rs8191776</li><li>R->Q at 529: in dbSNP:rs6413489</li><li>G->S at 604: in dbSNP:rs8191797</li><li>A->T at 724: in dbSNP:rs6413491</li><li>L->V at 817: in dbSNP:rs8191808</li><li>G->S at 856: in dbSNP:rs8191819</li><li>T->M at 1107: in dbSNP:rs8191842</li><li>V->I at 1124: in dbSNP:rs8191843</li><li>T->S at 1184: in dbSNP:rs8191844</li><li>E->A at 1254: in dbSNP:rs2230043</li><li>G->E at 1315: in dbSNP:rs8191859</li><li>R->H at 1335: in dbSNP:rs8191860</li><li>T->S at 1395: in dbSNP:rs2230048</li><li>G->R at 1619: in dbSNP:rs629849</li><li>Q->R at 1696: in dbSNP:rs11552587</li><li>R->H at 1832: in dbSNP:rs8191904</li><li>G->D at 1860: in dbSNP:rs8191905</li><li>I->M at 1908: in dbSNP:rs8191908</li><li>N->S at 2020: in dbSNP:rs1805075</li><li>A->V at 2459: in dbSNP:rs8191955</li>									<li>rs8191819</li><li>rs2230043</li><li>rs6413491</li><li>rs2230048</li><li>rs8191908</li><li>rs8191905</li><li>rs8191860</li><li>rs8191904</li><li>rs629849</li><li>rs8191746</li><li>rs11552587</li><li>rs8191842</li><li>rs8191843</li><li>rs8191704</li><li>rs8191844</li><li>rs8191808</li><li>rs8191776</li><li>rs8191758</li><li>rs8191955</li><li>rs8191797</li><li>rs1805075</li><li>rs8191754</li><li>rs8191859</li><li>rs6413489</li><li>rs8191753</li>	2
P11802	1019		<li>R->C at 24: in CMM3; somatic and familial; generates a dominant oncogene resistant to inhibition by p16: in dbSNP rsrs11547328, MIM: 609048</li><li>R->H at 24: in CMM3, MIM: 609048</li><li>N->S at 41: in CMM3; sporadic, MIM: 609048</li><li>R->Q at 82: in dbSNP:rs3211612, MIM: 609048</li><li>R->H at 122: in dbSNP rsrs34386532, MIM: 609048</li>							<li>Q89273</li><li>Q96518</li><li>Q91QT2</li><li>P26379</li><li>P27411</li><li>P27410</li><li>P27920</li><li>Q96725</li><li>P28042</li><li>Q05002</li><li>Q9R0Z3</li><li>Q69014</li><li>P0C044</li><li>Q86117</li><li>P52637</li><li>Q86119</li><li>P0C045</li>	Cutaneous malignant melanoma 3 (CMM3) [MIM:609048, 155600]	<li>rs34386532</li><li>rs3211612</li><li>rs11547328</li>	2
P11844	1418		<li>P->L at 148</li>										2
P12018	7441		<li>D->N at 76: in dbSNP:rs1320</li><li>S->L at 122: in dbSNP:rs11089979</li><li>E->K at 132: in dbSNP:rs5995720</li>									<li>rs5995720</li><li>rs11089979</li><li>rs1320</li>	2
P12034	2250		<li>M->V at 54: in dbSNP:rs33950145</li>									rs33950145	2
P12035	3850		<li>R->P at 503: in MCD: in dbSNP rsrs60410063, MIM: 122100</li><li>E->K at 509: in MCD: in dbSNP rsrs57872071, MIM: 122100</li>							<li>Q99J39</li><li>O95822</li><li>Q920F5</li><li>P12617</li>	Meesmann corneal dystrophy (MCD) [MIM:122100]	<li>rs57872071</li><li>rs60410063</li>	2
P12036	4744		<li>P->S at 575: in dbSNP:rs6006164</li><li>Missing  at 796: in ALS</li><li>E->A at 811: in dbSNP:rs165602</li>							<li>P37251</li><li>P37252</li><li>P65162</li><li>Q57625</li><li>P65161</li><li>Q57725</li><li>P70389</li><li>Q7U5G1</li><li>P0A622</li><li>P0A623</li><li>P42463</li><li>Q55141</li><li>O19929</li><li>O85293</li><li>O85294</li><li>Q04524</li><li>O02833</li><li>O67703</li><li>P66947</li><li>P66946</li><li>O78451</li><li>Q9RQ65</li><li>Q5KPJ5</li><li>P17597</li><li>P57321</li><li>O27492</li><li>O33112</li><li>Q09129</li><li>O33113</li><li>O08353</li><li>Q59498</li><li>Q59499</li><li>Q04789</li><li>O78518</li><li>Q9TLY1</li><li>P69683</li><li>P69684</li><li>P35858</li><li>P35859</li><li>P36620</li><li>P57320</li><li>P27868</li><li>P07342</li><li>Q89AP7</li><li>P27696</li><li>Q89AP8</li><li>Q02140</li><li>Q9MS98</li><li>P45260</li><li>O28555</li><li>P45261</li><li>P25605</li><li>Q6SSJ3</li><li>P51230</li><li>Q02137</li>		<li>rs165602</li><li>rs6006164</li>	2
P12107	1301		<li>W->G at 8: in dbSNP:rs12025888</li><li>D->E at 46: in dbSNP:rs11164663</li><li>G->S at 559: in dbSNP:rs12143815</li><li>G->V at 625: in STL2, MIM: 604841</li><li>G->R at 676: in STL2; overlapping phenotype with Marshall syndrome, MIM: 604841</li><li>Missing  at 921-926: in STL2; overlapping phenotype with Marshall syndrome, MIM: 604841</li><li>Missing  at 1313-1315: in STL2; overlapping phenotype with Marshall syndrome, MIM: 604841</li><li>P->L at 1323: in dbSNP:rs3753841, MIM: 604841</li><li>A->V at 1326: in a breast cancer sample; somatic mutation, MIM: 604841</li><li>Q->K at 1328: in a breast cancer sample; somatic mutation, MIM: 604841</li><li>Q->L at 1328: in a breast cancer sample; somatic mutation, MIM: 604841</li><li>G->V at 1516: in STL2; overlapping phenotype with Marshall syndrome, MIM: 604841</li><li>S->P at 1535: in dbSNP:rs1676486, MIM: 604841</li><li>L->F at 1805: in dbSNP:rs1975916, MIM: 604841</li>								Stickler syndrome type 2 (STL2) [MIM:604841]	<li>rs12143815</li><li>rs1676486</li><li>rs11164663</li><li>rs12025888</li><li>rs3753841</li><li>rs1975916</li>	2
P12109	1291		<li>K->R at 121: in BM, MIM: 158810</li><li>G->V at 305: in BM, MIM: 158810</li><li>G->D at 341: in BM, MIM: 158810</li><li>R->Q at 439: in dbSNP:rs35059000, MIM: 158810</li><li>R->H at 850: in dbSNP:rs1053312, MIM: 158810</li>								Bethlem myopathy (BM) [MIM:158810]	<li>rs1053312</li><li>rs35059000</li>	2
P12110	1292		<li>D->N at 227: in dbSNP:rs35881321</li><li>G->S at 271: in BM, MIM: 158810</li><li>S->N at 399: in dbSNP:rs2839110, MIM: 158810</li><li>D->N at 621: in BM, MIM: 158810</li><li>R->H at 680: in dbSNP:rs1042917, MIM: 158810</li><li>G->R at 935: in dbSNP:rs35548026, MIM: 158810</li><li>I->L at 1015: in dbSNP:rs11910483, MIM: 158810</li>								Bethlem myopathy (BM) [MIM:158810]	<li>rs35881321</li><li>rs1042917</li><li>rs11910483</li><li>rs35548026</li><li>rs2839110</li>	2
P12111	1293		<li>T->M at 538: in dbSNP:rs34741387</li><li>R->H at 659: in dbSNP:rs36092870</li><li>V->E at 886: in dbSNP:rs9630964</li><li>K->Q at 1088: in dbSNP:rs11896521</li><li>G->E at 1679: in BM, MIM: 158810</li><li>P->L at 2218: in dbSNP:rs36117715, MIM: 158810</li><li>N->T at 2805: in dbSNP:rs35848091, MIM: 158810</li><li>D->H at 2831: in dbSNP:rs36104025, MIM: 158810</li><li>T->M at 2927: in dbSNP:rs6728818, MIM: 158810</li><li>M->V at 2988: in dbSNP:rs11690358, MIM: 158810</li><li>P->A at 3012: in dbSNP:rs2270669, MIM: 158810</li><li>T->I at 3069: in dbSNP:rs1131296, MIM: 158810</li>								Bethlem myopathy (BM) [MIM:158810]	<li>rs9630964</li><li>rs34741387</li><li>rs6728818</li><li>rs36092870</li><li>rs2270669</li><li>rs36117715</li><li>rs11896521</li><li>rs35848091</li><li>rs11690358</li><li>rs1131296</li><li>rs36104025</li>	2
P12235	291		<li>A->D at 90: in PEOA2, MIM: 609283</li><li>L->P at 98: in PEOA2, MIM: 609283</li><li>D->G at 104: in PEOA2: in dbSNP rsrs28999114, MIM: 609283</li><li>A->P at 114: in PEOA2, MIM: 609283</li><li>A->D at 123: in hypertrophic cardiomyopathy; sporadic patient with mild myopathy, exercise intolerance and lactic acidosis but no ophthalmoplegia, MIM: 609283</li><li>V->M at 289: in PEOA2; also found in a sporadic case affected by PEO, MIM: 609283</li>								Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2) [MIM:609283]	rs28999114	2
P12259	2153		<li>G->S at 15: in dbSNP:rs9332485</li><li>D->H at 107: in dbSNP:rs6019</li><li>R->G at 334: in Hong Kong; does not predispose to clinical thrombosis</li><li>R->T at 334: in THR-APCR; Cambridge, MIM: 188055</li><li>I->T at 387: in THR-APCR; Liverpool; mutant protein is expressed with an additional carbohydrate chain, MIM: 188055</li><li>M->T at 413: in dbSNP:rs6033, MIM: 188055</li><li>R->K at 513: in dbSNP:rs6020, MIM: 188055</li><li>R->Q at 534: in Leiden; associated with THR-APCR; associated with susceptibility to Budd-Chiari syndrome; associated with susceptibility to ischemic stroke; dbSNP:rs6025, MIM: 188055</li><li>C->R at 613: in THR-APCR; Nijkerk, MIM: 188055</li><li>S->A at 775: in a colorectal cancer sample; somatic mutation, MIM: 188055</li><li>S->R at 781: in dbSNP:rs13306350, MIM: 188055</li><li>P->S at 809: in dbSNP:rs6031, MIM: 188055</li><li>N->T at 817: in dbSNP:rs6018, MIM: 188055</li><li>K->R at 858: in dbSNP:rs4524, MIM: 188055</li><li>H->R at 865: in dbSNP:rs4525, MIM: 188055</li><li>T->S at 915: in dbSNP:rs9332695, MIM: 188055</li><li>K->E at 925: in dbSNP:rs6032, MIM: 188055</li><li>N->S at 969: in dbSNP:rs9332604, MIM: 188055</li><li>R->L at 980: in dbSNP:rs9332605, MIM: 188055</li><li>H->Q at 1146: in dbSNP:rs6005, MIM: 188055</li><li>L->I at 1285: in dbSNP:rs1046712, MIM: 188055</li><li>H->R at 1327: in dbSNP:rs1800595, MIM: 188055</li><li>L->F at 1397: in dbSNP:rs13306334, MIM: 188055</li><li>P->S at 1404: in dbSNP:rs9332608, MIM: 188055</li><li>E->A at 1530: in dbSNP:rs6007, MIM: 188055</li><li>T->S at 1685: in dbSNP:rs6011, MIM: 188055</li><li>Y->C at 1730: in FA5D; Seoul 2, MIM: 227400</li><li>L->V at 1749: in dbSNP:rs6034, MIM: 227400</li><li>V->M at 1764: in dbSNP:rs6030, MIM: 227400</li><li>M->I at 1820: in dbSNP:rs6026, MIM: 227400</li><li>R->C at 2102: in FA5D; impairs both factor V secretion and activity, MIM: 227400</li><li>R->H at 2102: in THR-APCR, MIM: 188055</li><li>M->T at 2148: in dbSNP:rs9332701, MIM: 188055</li><li>K->R at 2185: in dbSNP:rs6679078, MIM: 188055</li><li>D->G at 2222: in dbSNP:rs6027, MIM: 188055</li>	secretion	GO:0046903						<li>Thrombophilia due to activated protein C resistance (THR-APCR) [MIM:188055]</li><li>Factor V deficiency (FA5D) [MIM:227400]</li>	<li>rs6007</li><li>rs6005</li><li>rs6027</li><li>rs9332695</li><li>rs6011</li><li>rs6034</li><li>rs6033</li><li>rs6032</li><li>rs6031</li><li>rs6030</li><li>rs9332701</li><li>rs9332604</li><li>rs9332605</li><li>rs9332608</li><li>rs1046712</li><li>rs6018</li><li>rs6019</li><li>rs1800595</li><li>rs9332485</li><li>rs4524</li><li>rs4525</li><li>rs6020</li><li>rs6026</li><li>rs6025</li><li>rs6679078</li><li>rs13306334</li><li>rs13306350</li>	2
P12270	7175		<li>S->N at 960: in dbSNP:rs3753565</li><li>V->G at 1428: in dbSNP:rs35550453</li><li>T->A at 1707: in dbSNP:rs35766045</li>									<li>rs3753565</li><li>rs35550453</li><li>rs35766045</li>	2
P12271	6017		<li>R->Q at 151: in ARRP; loss of ability to bind 11-cis-retinaldehyde: in dbSNP rsrs28933989, MIM: 268000</li><li>M->K at 226: in FA, MIM: 136880</li><li>R->W at 234: in Bothnia retinal dystrophy; dbSNP:rs28933990, MIM: 607475</li>							Q62225	<li>Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]</li><li>Fundus albipunctatus (FA) [MIM:136880]</li><li>Bothnia retinal dystrophy [MIM:607475]</li>	<li>rs28933990</li><li>rs28933989</li>	2
P12272	5744		<li>S->T at 169: in a breast cancer sample; somatic mutation</li>										2
P12318	2212		<li>Q->R at 63: in dbSNP:rs9427398</li><li>M->V at 140: in dbSNP:rs4986941</li><li>H->R at 167: may be associated with susceptibility to lupus nephritis; does not efficiently recognize IgG2; dbSNP:rs1801274</li><li>I->V at 218: in dbSNP:rs17851834</li>									<li>rs17851834</li><li>rs9427398</li><li>rs4986941</li>	2
P12319	2205		<li>K->R at 84: in dbSNP:rs2298804</li><li>S->N at 101: in dbSNP:rs2298805</li>									<li>rs2298805</li><li>rs2298804</li>	2
P12429	306		<li>S->N at 19: in dbSNP:rs5951</li><li>I->N at 219: in dbSNP:rs5948</li><li>P->L at 251: in dbSNP:rs5949</li><li>F->S at 291: in dbSNP:rs5941</li>									<li>rs5941</li><li>rs5949</li><li>rs5948</li><li>rs5951</li>	2
P12524	4610		<li>S->T at 362: in dbSNP:rs3134614</li>									rs3134614	2
P12544	3001		<li>T->M at 121: in dbSNP:rs3104233</li>									rs3104233	2
P12643	650		<li>S->A at 37: in dbSNP:rs2273073</li><li>P->S at 77: in dbSNP:rs36105541</li><li>A->T at 106: in dbSNP:rs2273074</li><li>L->S at 161: in dbSNP:rs34183594</li><li>R->S at 190: in dbSNP:rs235768</li><li>D->G at 387: in dbSNP:rs11545591</li>									<li>rs2273074</li><li>rs11545591</li><li>rs34183594</li><li>rs2273073</li><li>rs36105541</li><li>rs235768</li>	2
P12644	652		<li>S->C at 91: in renal hypodysplasia patients</li><li>E->G at 93: in MCOPS6, MIM: 607932</li><li>T->S at 116: in a renal hypodysplasia patient, MIM: 607932</li><li>N->K at 150: in a renal hypodysplasia patient, MIM: 607932</li><li>V->A at 152: in dbSNP:rs17563, MIM: 607932</li><li>T->A at 225, MIM: 607932</li><li>R->W at 226, MIM: 607932</li><li>S->T at 367, MIM: 607932</li>								Microphthalmia syndromic type 6 (MCOPS6) [MIM:607932]	rs17563	2
P12645	651		<li>Q->K at 176: in dbSNP:rs34213771</li><li>Q->L at 176: in dbSNP:rs34847147</li><li>R->Q at 192: in dbSNP:rs3733549</li><li>L->F at 205: in dbSNP:rs6831040</li><li>T->M at 222: in dbSNP:rs34505126</li>									<li>rs34213771</li><li>rs3733549</li><li>rs34505126</li><li>rs6831040</li><li>rs34847147</li>	2
P12694	593		<li>P->H at 39: in dbSNP:rs34589432</li><li>T->M at 151: in dbSNP:rs34442879</li><li>R->W at 159: in MSUD1A, MIM: 248600</li><li>Q->K at 190: in MSUD1A, MIM: 248600</li><li>A->T at 253: in MSUD1A, MIM: 248600</li><li>G->R at 290: in MSUD1A, MIM: 248600</li><li>I->T at 326: in MSUD1A, MIM: 248600</li><li>F->C at 409: in MSUD1A, MIM: 248600</li><li>Y->C at 413: in MSUD1A, MIM: 248600</li><li>Y->N at 438: in MSUD1A; impedes assembly of the E1 component, MIM: 248600</li>			E1	GO:0004839				Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	<li>rs34442879</li><li>rs34589432</li>	2
P12724	6037		<li>R->C at 72</li><li>T->R at 124: in dbSNP:rs2073342</li><li>G->R at 130: in dbSNP:rs12147890</li>									<li>rs2073342</li><li>rs12147890</li>	2
P12757	6498		<li>V->A at 38: in dbSNP:rs3772173</li>									rs3772173	2
P12814	87		<li>N->T at 707: in dbSNP:rs7157661</li><li>T->S at 868: in dbSNP:rs11557769</li>									<li>rs11557769</li><li>rs7157661</li>	2
P12829	4635		<li>N->Y at 186: in dbSNP:rs16941677</li>									rs16941677	2
P12838	1669		<li>A->P at 8: in dbSNP:rs28661751</li><li>R->Q at 74: in a colorectal cancer sample; somatic mutation</li>									rs28661751	2
P12872	4295		<li>V->A at 15: in dbSNP:rs2281820</li>									rs2281820	2
P12882	4619		<li>G->S at 640</li><li>S->L at 1306: in a breast cancer sample; somatic mutation</li><li>R->C at 1341: in dbSNP:rs3744564</li><li>A->T at 1445: in a breast cancer sample; somatic mutation</li><li>Q->H at 1539: in dbSNP:rs3764850</li><li>V->M at 1598: in a breast cancer sample; somatic mutation</li><li>R->C at 1716: in dbSNP:rs1077841</li>									<li>rs3744564</li><li>rs1077841</li><li>rs3764850</li>	2
P12883	4625		<li>D->A at 3: in dbSNP:rs3729993</li><li>A->V at 26: in CMH1, MIM: 192600</li><li>V->M at 39: in CMH1, MIM: 192600</li><li>V->I at 59: in CMH1, MIM: 192600</li><li>D->E at 107: in dbSNP:rs2754166, MIM: 192600</li><li>Y->H at 115: in CMH1, MIM: 192600</li><li>T->I at 124: in CMH1, MIM: 192600</li><li>R->G at 143: in CMH1, MIM: 192600</li><li>R->Q at 143: in CMH1, MIM: 192600</li><li>R->W at 143: in CMH1, MIM: 192600</li><li>K->N at 146: in CMH1, MIM: 192600</li><li>S->I at 148: in CMH1, MIM: 192600</li><li>Y->C at 162: in CMH1, MIM: 192600</li><li>V->L at 186: in CMH1, MIM: 192600</li><li>N->K at 187: in CMH1, MIM: 192600</li><li>T->N at 188: in CMH1, MIM: 192600</li><li>R->T at 190: in CMH1, MIM: 192600</li><li>A->T at 196: in CMH1, MIM: 192600</li><li>I->T at 201: in CMD1S, MIM: 160760</li><li>R->H at 204: in CMH1, MIM: 192600</li><li>K->Q at 207: in CMH1, MIM: 192600</li><li>P->L at 211: in CMH1, MIM: 192600</li><li>Q->K at 222: in CMH1, MIM: 192600</li><li>A->T at 223: in CMD1S, MIM: 160760</li><li>L->V at 227: in CMH1, MIM: 192600</li><li>N->S at 232: in CMH1, MIM: 192600</li><li>F->L at 244: in CMH1, MIM: 192600</li><li>R->Q at 249: in CMH1; dbSNP:rs3218713, MIM: 192600</li><li>G->E at 256: in CMH1, MIM: 192600</li><li>I->M at 263: in CMH1, MIM: 192600</li><li>I->T at 263: in CMH1, MIM: 192600</li><li>F->C at 312: in CMH1, MIM: 192600</li><li>V->M at 320: in CMH1, MIM: 192600</li><li>E->G at 328: in CMH1, MIM: 192600</li><li>M->T at 349: in CMH1, MIM: 192600</li><li>K->E at 351: in CMH1, MIM: 192600</li><li>A->T at 355: in CMH1, MIM: 192600</li><li>K->N at 383: in CMH1, MIM: 192600</li><li>A->V at 385: in CMH1, MIM: 192600</li><li>L->V at 390: in CMH1, MIM: 192600</li><li>R->L at 403: in CMH1, MIM: 192600</li><li>R->Q at 403: in CMH1, MIM: 192600</li><li>R->W at 403: in CMH1; dbSNP:rs3218714, MIM: 192600</li><li>V->L at 404: in CMH1, MIM: 192600</li><li>V->M at 404: in CMH1, MIM: 192600</li><li>V->M at 406: in CMH1, MIM: 192600</li><li>G->V at 407: in CMH1, MIM: 192600</li><li>V->I at 411: in CMH1, MIM: 192600</li><li>T->N at 412: in CMD1S, MIM: 160760</li><li>G->R at 425: in CMH1, MIM: 192600</li><li>A->V at 428: in CMH1, MIM: 192600</li><li>A->E at 430: in CMH1, MIM: 192600</li><li>M->T at 435: in CMH1, MIM: 192600</li><li>V->M at 440: in CMH1, MIM: 192600</li><li>T->M at 441: in MPD1, MIM: 160500</li><li>I->T at 443: in CMH1, MIM: 192600</li><li>K->E at 450: in CMH1, MIM: 192600</li><li>K->T at 450: in CMH1, MIM: 192600</li><li>R->C at 453: in CMH1, MIM: 192600</li><li>R->H at 453: in CMH1, MIM: 192600</li><li>E->Q at 466: in dbSNP:rs4981473, MIM: 192600</li><li>N->S at 479: in CMH1, MIM: 192600</li><li>E->K at 483: in CMH1, MIM: 192600</li><li>E->K at 499: in CMH1; dbSNP:rs3218715, MIM: 192600</li><li>E->A at 500: in CMH1, MIM: 192600</li><li>Y->C at 501: in CMH1, MIM: 192600</li><li>I->F at 511: in CMH1, MIM: 192600</li><li>I->T at 511: in CMH1, MIM: 192600</li><li>F->C at 513: in CMH1, MIM: 192600</li><li>M->R at 515: in CMH1, MIM: 192600</li><li>M->V at 515: in CMH1; infrequent, MIM: 192600</li><li>L->M at 517: in CMH1, MIM: 192600</li><li>S->P at 532: in CMD1S, MIM: 160760</li><li>A->V at 550: in CMD1S, MIM: 160760</li><li>G->R at 571: in CMH1, MIM: 192600</li><li>H->R at 576: in CMH1, MIM: 192600</li><li>G->R at 584: in CMH1, MIM: 192600</li><li>G->S at 584: in CMH1, MIM: 192600</li><li>D->V at 587: in CMH1, MIM: 192600</li><li>Q->R at 595: in CMH1, MIM: 192600</li><li>L->V at 601: in CMH1, MIM: 192600</li><li>N->S at 602: in CMH1, MIM: 192600</li><li>V->M at 606: in CMH1; in cis with V-728 gives a more severe phenotype, MIM: 192600</li><li>K->N at 615: in CMH1, MIM: 192600</li><li>K->Q at 615: in CMH1, MIM: 192600</li><li>S->L at 642: in CMD1S, MIM: 160760</li><li>M->I at 659: in CMH1, MIM: 192600</li><li>R->C at 663: in CMH1, MIM: 192600</li><li>R->H at 663: in CMH1, MIM: 192600</li><li>R->S at 663: in CMH1, MIM: 192600</li><li>R->C at 671: in CMH1, MIM: 192600</li><li>R->C at 694: in CMH1, MIM: 192600</li><li>R->H at 694: in CMH1, MIM: 192600</li><li>N->S at 696: in CMH1, MIM: 192600</li><li>V->A at 698: in CMH1, MIM: 192600</li><li>R->L at 712: in CMH1, MIM: 192600</li><li>G->R at 716: in CMH1, MIM: 192600</li><li>R->Q at 719: in CMH1, MIM: 192600</li><li>R->W at 719: in CMH1, MIM: 192600</li><li>R->C at 723: in CMH1, MIM: 192600</li><li>R->G at 723: in CMH1; malignant phenotype, MIM: 192600</li><li>A->V at 728: in CMH1; in cis with M-606 gives a more severe phenotype, MIM: 192600</li><li>P->L at 731: in CMH1, MIM: 192600</li><li>G->E at 733: in CMH1, MIM: 192600</li><li>Q->E at 734: in CMH1, MIM: 192600</li><li>Q->P at 734: in CMH1, MIM: 192600</li><li>I->M at 736: in CMH1, MIM: 192600</li><li>I->T at 736: in CMH1, MIM: 192600</li><li>G->R at 741: in CMH1, MIM: 192600</li><li>G->W at 741: in CMH1, MIM: 192600</li><li>A->E at 742: in CMH1, MIM: 192600</li><li>E->D at 743: in CMH1, MIM: 192600</li><li>V->G at 763: in CMH1, MIM: 192600</li><li>V->M at 763: in CMH1, MIM: 192600</li><li>F->L at 764: in CMD1S, MIM: 160760</li><li>G->R at 768: in CMH1, MIM: 192600</li><li>E->V at 774: in CMH1, MIM: 192600</li><li>D->E at 778: in CMH1, MIM: 192600</li><li>D->G at 778: in CMH1, MIM: 192600</li><li>D->V at 778: in CMH1, MIM: 192600</li><li>S->N at 782: in CMH1, MIM: 192600</li><li>R->C at 787: in CMH1, MIM: 192600</li><li>R->H at 787: in CMH1, MIM: 192600</li><li>L->F at 796: in CMH1, MIM: 192600</li><li>A->T at 797: in CMH1; dbSNP:rs3218716, MIM: 192600</li><li>M->L at 822: in CMH1, MIM: 192600</li><li>M->T at 822: in CMH1, MIM: 192600</li><li>G->E at 823: in CMH1, MIM: 192600</li><li>V->I at 824: in CMH1, MIM: 192600</li><li>E->Q at 846: in CMH1, MIM: 192600</li><li>Missing  at 847: in CMH1, MIM: 192600</li><li>M->T at 852: in CMH1, MIM: 192600</li><li>R->C at 858: in CMH1; infrequent, MIM: 192600</li><li>R->H at 858: in CMH1, MIM: 192600</li><li>R->C at 869: in CMH1, MIM: 192600</li><li>R->G at 869: in CMH1, MIM: 192600</li><li>R->H at 869: in CMH1: in dbSNP rsrs36211715, MIM: 192600</li><li>R->C at 870: in CMH1; dbSNP:rs36211715, MIM: 192600</li><li>R->H at 870: in CMH1: in dbSNP rsrs36211715, MIM: 192600</li><li>M->K at 877: in CMH1, MIM: 192600</li><li>Q->E at 882: in CMH1, MIM: 192600</li><li>Missing  at 883: in CMH1, MIM: 192600</li><li>E->G at 894: in CMH1, MIM: 192600</li><li>A->G at 901: in CMH1, MIM: 192600</li><li>C->F at 905: in CMH1, MIM: 192600</li><li>D->G at 906: in CMH1, MIM: 192600</li><li>L->V at 908: in CMH1, MIM: 192600</li><li>E->K at 921: in CMH1, MIM: 192600</li><li>E->K at 924: in CMH1, MIM: 192600</li><li>E->Q at 924: in CMH1, MIM: 192600</li><li>E->K at 927: in CMH1, MIM: 192600</li><li>Missing  at 927: in CMH1, MIM: 192600</li><li>D->N at 928: in CMH1, MIM: 192600</li><li>E->K at 930: in CMH1, MIM: 192600</li><li>Missing  at 930: in CMH1, MIM: 192600</li><li>E->K at 931: in CMH1, MIM: 192600</li><li>E->K at 935: in CMH1, MIM: 192600</li><li>E->K at 949: in CMH1, MIM: 192600</li><li>D->H at 953: in CMH1, MIM: 192600</li><li>T->N at 1019: in CMD1S, MIM: 160760</li><li>G->D at 1057: in CMH1, MIM: 192600</li><li>G->S at 1057: in CMH1, MIM: 192600</li><li>A->S at 1124: in dbSNP:rs1041961 and dbSNP:rs17420746, MIM: 192600</li><li>L->R at 1135: in CMH1, MIM: 192600</li><li>R->S at 1193: in CMD1S, MIM: 160760</li><li>E->Q at 1218: in CMH1, MIM: 192600</li><li>N->K at 1327: in CMH1, MIM: 192600</li><li>E->K at 1356: in CMH1, MIM: 192600</li><li>T->M at 1377: in CMH1, MIM: 192600</li><li>A->T at 1379: in CMH1, MIM: 192600</li><li>R->W at 1382: in CMH1, MIM: 192600</li><li>L->M at 1414: in CMH1, MIM: 192600</li><li>R->W at 1420: in CMH1, MIM: 192600</li><li>E->K at 1426: in CMD1S, MIM: 160760</li><li>A->T at 1454: in CMH1, MIM: 192600</li><li>K->N at 1459: in CMH1, MIM: 192600</li><li>R->C at 1475, MIM: 192600</li><li>S->C at 1491: in dbSNP:rs3729823, MIM: 192600</li><li>R->P at 1500: in MPD1, MIM: 160500</li><li>T->S at 1513: in CMH1, MIM: 192600</li><li>S->C at 1519, MIM: 192600</li><li>E->K at 1555: in CMH1, MIM: 192600</li><li>Missing  at 1617: in MPD1, MIM: 192600</li><li>R->C at 1634: in CMD1S, MIM: 160760</li><li>A->P at 1663: in MPD1, MIM: 160500</li><li>V->M at 1692: probable polymorphism; has been originally reported as a hypertrophic cardiomyopathy mutation, MIM: 160500</li><li>L->P at 1706: in MPD1, MIM: 160500</li><li>R->W at 1712: in CMH1, MIM: 192600</li><li>Missing  at 1729: in MPD1, MIM: 192600</li><li>E->K at 1753: in CMH1, MIM: 192600</li><li>E->K at 1768: in CMH1, MIM: 192600</li><li>S->G at 1776: in CMH1, MIM: 192600</li><li>A->T at 1777: in CMH1, MIM: 192600</li><li>R->W at 1845: in myosin storage myopathy and SPMM; dbSNP:rs28933098, MIM: 181430</li><li>T->M at 1854: in CMH1, MIM: 192600</li><li>E->K at 1883: in CMH1, MIM: 192600</li><li>H->L at 1901: in myosin storage myopathy, MIM: 608358</li><li>K->N at 1919, MIM: 608358</li><li>T->M at 1929: in CMH1, MIM: 192600</li>					myosin	GO:0016459	<li>Q62225</li><li>P55210</li><li>Q02242</li>	<li>Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]</li><li>Myosin storage myopathy [MIM:608358]</li><li>Laing early-onset distal myopathy (MPD1) [MIM:160500]</li><li>Scapuloperoneal myopathy MYH7-related (SPMM) [MIM:181430]</li><li>Cardiomyopathy dilated type 1S (CMD1S) [MIM:160760]</li>	<li>rs28933098</li><li>rs3218713</li><li>rs3729993</li><li>rs1041961 and dbSNP:rs17420746</li><li>rs3218714</li><li>rs2754166</li><li>rs3218715</li><li>rs3729823</li><li>rs3218716</li><li>rs36211715</li><li>rs4981473</li>	2
P12931	6714		<li>L->F at 176: in dbSNP:rs6018260</li><li>A->T at 237: in dbSNP rsrs34881773</li>									<li>rs34881773</li><li>rs6018260</li>	2
P12955	5184		<li>R->Q at 184: in PD, MIM: 170100</li><li>D->N at 276: in PD, MIM: 170100</li><li>G->D at 278: in PD, MIM: 170100</li><li>R->H at 388: in dbSNP:rs2230062, MIM: 170100</li><li>L->F at 435: in dbSNP:rs17570, MIM: 170100</li><li>G->R at 448: in PD, MIM: 170100</li><li>Missing  at 452: in PD, MIM: 170100</li>								Prolidase deficiency (PD) [MIM:170100]	<li>rs2230062</li><li>rs17570</li>	2
P13073	1327		<li>Y->F at 38</li>										2
P13164	8519		<li>P->A at 13: in dbSNP:rs9667990</li>									rs9667990	2
P13224	2812		<li>Y->C at 113: in BSS, MIM: 231200</li><li>A->P at 133: in BSS, MIM: 231200</li>								Bernard-Soulier syndrome (BSS) [MIM:231200]		2
P13236	6351		<li>M->V at 12: in dbSNP:rs9635771</li><li>P->L at 20: in dbSNP:rs1130750</li>									<li>rs9635771</li><li>rs1130750</li>	2
P13385	6997		<li>V->A at 22: in dbSNP:rs11130097</li><li>Y->D at 43: in dbSNP:rs2293025</li><li>R->G at 111: in dbSNP:rs34501971</li>									<li>rs34501971</li><li>rs2293025</li><li>rs11130097</li>	2
P13473	3920		<li>P->H at 256: in dbSNP:rs1043878</li><li>W->R at 321: in DAND, MIM: 300257</li>								Danon disease (DAND) [MIM:300257]	rs1043878	2
P13489	6050		<li>P->L at 170: in dbSNP:rs17585</li>									rs17585	2
P13497	649		<li>D->H at 45: in a breast cancer sample; somatic mutation</li><li>V->I at 719: in dbSNP:rs11996036</li>									rs11996036	2
P13501	6352		<li>S->F at 24</li>										2
P13521	7857		<li>Y->H at 61: in dbSNP:rs16864976</li><li>A->V at 196: in dbSNP:rs1438157</li><li>D->G at 294: in dbSNP:rs17852053</li><li>R->G at 421: in dbSNP:rs17856669</li><li>D->G at 535: in dbSNP:rs17852054</li><li>P->L at 564: in dbSNP:rs36043001</li>									<li>rs1438157</li><li>rs36043001</li><li>rs17852054</li><li>rs17856669</li><li>rs16864976</li><li>rs17852053</li>	2
P13533	4624		<li>Q->E at 88: in dbSNP:rs442275</li><li>L->M at 783: in dbSNP:rs11847151</li><li>R->Q at 795: in CMH; late onset, MIM: 192600</li><li>I->N at 820: in ASD3, MIM: 160710</li><li>V->A at 1101: in dbSNP:rs365990, MIM: 160710</li><li>T->S at 1737: in dbSNP:rs1059854, MIM: 160710</li>								<li>Cardiomyopathy familial hypertrophic (CMH) [MIM:192600]</li><li>Atrial septal defect type 3 (ASD3) [MIM:160710]</li>	<li>rs1059854</li><li>rs11847151</li><li>rs365990</li><li>rs442275</li>	2
P13535	4626		<li>I->T at 326: in dbSNP:rs34124921</li><li>A->V at 636: in dbSNP:rs34693726</li><li>R->Q at 674: in Carney complex variant and trismus-pseudocamptodactyly syndrome: in dbSNP rsrs28932773, MIM: 158300</li><li>E->G at 924: in dbSNP:rs4372733, MIM: 158300</li><li>M->T at 1229: in dbSNP:rs35962914, MIM: 158300</li><li>E->G at 1261: in dbSNP:rs1063926, MIM: 158300</li><li>W->R at 1692: in dbSNP:rs8069834, MIM: 158300</li>								<li>Trismus-pseudocamptodactyly syndrome [MIM:158300]</li><li>Carney complex variant [MIM:608837]</li>	<li>rs1063926</li><li>rs34693726</li><li>rs8069834</li><li>rs28932773</li><li>rs4372733</li><li>rs35962914</li><li>rs34124921</li>	2
P13569	1080		<li>S->F at 13: in CF, MIM: 219700</li><li>R->C at 31: in dbSNP:rs1800073, MIM: 219700</li><li>R->L at 31: in CF, MIM: 219700</li><li>S->F at 42: in CF, MIM: 219700</li><li>D->G at 44: in CF, MIM: 219700</li><li>D->V at 44: in dbSNP:rs1800074, MIM: 219700</li><li>S->Y at 50: in CBAVD, MIM: 277180</li><li>W->G at 57: in CF, MIM: 219700</li><li>P->L at 67: in CF, MIM: 219700</li><li>R->W at 74: in CF, MIM: 219700</li><li>R->Q at 75: in dbSNP:rs1800076, MIM: 219700</li><li>G->E at 85: in CF, MIM: 219700</li><li>F->L at 87: in CF, MIM: 219700</li><li>G->R at 91: in CF, MIM: 219700</li><li>E->K at 92: in CF, MIM: 219700</li><li>Q->R at 98: in CF, MIM: 219700</li><li>I->S at 105: in CF, MIM: 219700</li><li>Y->C at 109: in CF, MIM: 219700</li><li>D->H at 110: in CF, MIM: 219700</li><li>P->L at 111: in CBAVD, MIM: 277180</li><li>R->C at 117: in CF, MIM: 219700</li><li>R->H at 117: in CF and CBAVD, MIM: 219700</li><li>R->L at 117: in CF, MIM: 219700</li><li>R->P at 117: in CF, MIM: 219700</li><li>A->T at 120: in CF, MIM: 219700</li><li>L->P at 138: in dbSNP:rs1800078, MIM: 219700</li><li>H->R at 139: in CF, MIM: 219700</li><li>A->D at 141: in CF, MIM: 219700</li><li>I->T at 148: in CF; dbSNP:rs35516286, MIM: 219700</li><li>G->R at 149: in CBAVD, MIM: 277180</li><li>R->H at 170: in dbSNP:rs1800079, MIM: 277180</li><li>G->R at 178: in CF, MIM: 219700</li><li>S->G at 182: in dbSNP:rs1800080, MIM: 219700</li><li>Missing  at 192: in CF, MIM: 219700</li><li>E->K at 193: in CBAVD and CF, MIM: 219700</li><li>H->Q at 199: in CF, MIM: 219700</li><li>H->Y at 199: in CF, MIM: 219700</li><li>P->S at 205: in CF, MIM: 219700</li><li>L->W at 206: in CF, MIM: 219700</li><li>C->R at 225: in CF, MIM: 219700</li><li>M->K at 244: in CBAVD, MIM: 277180</li><li>R->G at 258: in CBAVD, MIM: 277180</li><li>N->Y at 287: in CF, MIM: 219700</li><li>R->Q at 297: in CF, MIM: 219700</li><li>Y->C at 301: in CF, MIM: 219700</li><li>S->N at 307: in CF, MIM: 219700</li><li>F->L at 311: in CF, MIM: 219700</li><li>Missing  at 311: in CF, MIM: 219700</li><li>G->E at 314: in CF, MIM: 219700</li><li>G->R at 314: in CF, MIM: 219700</li><li>V->M at 322: in dbSNP:rs1800085, MIM: 219700</li><li>R->W at 334: in CF; mild, MIM: 219700</li><li>I->K at 336: in CF, MIM: 219700</li><li>T->I at 338: in CF; mild; isolated hypotonic dehydration, MIM: 219700</li><li>L->P at 346: in CF; dominant mutation but mild phenotype, MIM: 219700</li><li>R->H at 347: in CF, MIM: 219700</li><li>R->L at 347: in CF, MIM: 219700</li><li>R->P at 347: in CF; MILD, MIM: 219700</li><li>T->S at 351: in dbSNP:rs1800086, MIM: 219700</li><li>R->Q at 352: in CF, MIM: 219700</li><li>Q->H at 353: in dbSNP:rs1800087, MIM: 219700</li><li>QT->KK at 359-360: in CF, MIM: 219700</li><li>Q->K at 359: in CF, MIM: 219700</li><li>K->KNK at 370: in CF, MIM: 219700</li><li>A->E at 455: in CF, MIM: 219700</li><li>V->F at 456: in CF, MIM: 219700</li><li>G->V at 458: in CF, MIM: 219700</li><li>L->F at 467: in dbSNP:rs1800089, MIM: 219700</li><li>V->M at 470: in dbSNP:rs213950, MIM: 219700</li><li>G->C at 480: in CF, MIM: 219700</li><li>S->F at 492: in CF, MIM: 219700</li><li>E->Q at 504: in CF, MIM: 219700</li><li>I->M at 506: in dbSNP:rs1800092, MIM: 219700</li><li>I->V at 506: in dbSNP rsrs1801178, MIM: 219700</li><li>I->V at 507: in dbSNP:rs1800091, MIM: 219700</li><li>Missing  at 507: in CF, MIM: 219700</li><li>F->C at 508: in dbSNP:rs1800093, MIM: 219700</li><li>Missing  at 508: in CF and CBAVD; most common mutation; 72% of the population; CFTR fails to be properly delivered to plasma membrane, MIM: 219700</li><li>D->G at 513: in CBAVD, MIM: 277180</li><li>V->F at 520: in CF, MIM: 219700</li><li>K->E at 532: in dbSNP:rs35032490, MIM: 219700</li><li>G->V at 544: in CBAVD, MIM: 277180</li><li>S->I at 549: in CF, MIM: 219700</li><li>S->N at 549: in CF, MIM: 219700</li><li>S->R at 549: in CF, MIM: 219700</li><li>G->D at 551: in CF, MIM: 219700</li><li>G->S at 551: in CF, MIM: 219700</li><li>R->Q at 553: in CF, MIM: 219700</li><li>L->S at 558: in CF, MIM: 219700</li><li>A->T at 559: in CF, MIM: 219700</li><li>R->K at 560: in CF, MIM: 219700</li><li>R->S at 560: in CF, MIM: 219700</li><li>R->T at 560: in CF, MIM: 219700</li><li>V->I at 562: in dbSNP:rs1800097, MIM: 219700</li><li>V->L at 562: in CF, MIM: 219700</li><li>Y->N at 563: in CF, MIM: 219700</li><li>Y->C at 569: in CF, MIM: 219700</li><li>Y->D at 569: in CF, MIM: 219700</li><li>Y->H at 569: in CF, MIM: 219700</li><li>L->S at 571: in CF, MIM: 219700</li><li>D->N at 572: in CF, MIM: 219700</li><li>P->H at 574: in CF, MIM: 219700</li><li>G->A at 576: in dbSNP:rs1800098, MIM: 219700</li><li>D->G at 579: in CF, MIM: 219700</li><li>I->F at 601: in CF, MIM: 219700</li><li>S->F at 605: in dbSNP:rs766874, MIM: 219700</li><li>L->S at 610: in CF, MIM: 219700</li><li>A->T at 613: in CF, MIM: 219700</li><li>D->G at 614: in CF, MIM: 219700</li><li>I->T at 618: in CF, MIM: 219700</li><li>L->S at 619: in CF, MIM: 219700</li><li>H->P at 620: in CF, MIM: 219700</li><li>H->Q at 620: in CF, MIM: 219700</li><li>G->D at 622: in oligospermia, MIM: 219700</li><li>G->R at 628: in CF, MIM: 219700</li><li>L->P at 633: in CF, MIM: 219700</li><li>D->V at 648: in CF, MIM: 219700</li><li>D->N at 651: in CF, MIM: 219700</li><li>S->G at 654: in dbSNP:rs1800099, MIM: 219700</li><li>T->S at 665: in CF, MIM: 219700</li><li>R->C at 668: in dbSNP:rs1800100, MIM: 219700</li><li>F->L at 693: in dbSNP:rs1800101, MIM: 219700</li><li>V->M at 754: in CF, MIM: 219700</li><li>R->M at 766: in CBAVD, MIM: 277180</li><li>R->G at 792: in CBAVD, MIM: 277180</li><li>A->G at 800: in CBAVD, MIM: 277180</li><li>I->M at 807: in CBAVD; dbSNP:rs1800103, MIM: 277180</li><li>E->K at 822: in CF, MIM: 219700</li><li>E->K at 826: in thoracic sarcoidosis, MIM: 219700</li><li>C->Y at 866: in CF, MIM: 219700</li><li>Y->H at 903: in dbSNP:rs1800106, MIM: 219700</li><li>S->I at 909: in dbSNP:rs1800107, MIM: 219700</li><li>S->L at 912, MIM: 219700</li><li>Y->C at 913: in CF, MIM: 219700</li><li>Y->C at 917: in CF, MIM: 219700</li><li>H->Y at 949: in CF, MIM: 219700</li><li>M->I at 952: in CF, MIM: 219700</li><li>L->S at 967: in dbSNP:rs1800110, MIM: 219700</li><li>L->F at 997: in CF; dbSNP:rs1800111, MIM: 219700</li><li>I->R at 1005: in CF, MIM: 219700</li><li>A->E at 1006: in CF, MIM: 219700</li><li>P->L at 1013: in CF, MIM: 219700</li><li>M->I at 1028: in CF, MIM: 219700</li><li>F->V at 1052: in CF, MIM: 219700</li><li>G->R at 1061: in CF, MIM: 219700</li><li>L->P at 1065: in CF, MIM: 219700</li><li>L->R at 1065: in CF, MIM: 219700</li><li>R->C at 1066: in CF, MIM: 219700</li><li>R->H at 1066: in CF, MIM: 219700</li><li>R->L at 1066: in CF, MIM: 219700</li><li>A->T at 1067: in CF, MIM: 219700</li><li>A->V at 1067: in dbSNP:rs1800114, MIM: 219700</li><li>R->P at 1070: in CF, MIM: 219700</li><li>R->Q at 1070: in CF, MIM: 219700</li><li>R->W at 1070: in CBAVD, MIM: 277180</li><li>Q->P at 1071: in CF, MIM: 219700</li><li>P->L at 1072: in CF, MIM: 219700</li><li>L->P at 1077: in CF, MIM: 219700</li><li>H->R at 1085: in CF, MIM: 219700</li><li>W->R at 1098: in CF, MIM: 219700</li><li>M->K at 1101: in CF: in dbSNP rsrs36210737, MIM: 219700</li><li>M->R at 1101: in CF, MIM: 219700</li><li>M->V at 1137: in CF, MIM: 219700</li><li>Missing  at 1140: in CF, MIM: 219700</li><li>D->H at 1152: in CF, MIM: 219700</li><li>R->L at 1162: in dbSNP:rs1800120, MIM: 219700</li><li>T->I at 1220: in dbSNP:rs1800123, MIM: 219700</li><li>I->V at 1234: in CF, MIM: 219700</li><li>S->R at 1235: in CF: in dbSNP rsrs34911792, MIM: 219700</li><li>G->E at 1244: in CF, MIM: 219700</li><li>G->E at 1249: in CF, MIM: 219700</li><li>S->N at 1251: in CF, MIM: 219700</li><li>S->P at 1255: in CF, MIM: 219700</li><li>D->N at 1270: in CF; dbSNP:rs11971167, MIM: 219700</li><li>W->R at 1282: in CF, MIM: 219700</li><li>R->M at 1283: in CF, MIM: 219700</li><li>F->S at 1286: in CF, MIM: 219700</li><li>Q->H at 1291: in CF, MIM: 219700</li><li>Q->R at 1291: in CF, MIM: 219700</li><li>N->H at 1303: in CF, MIM: 219700</li><li>N->K at 1303: in CF, MIM: 219700</li><li>G->D at 1349: in CF, MIM: 219700</li><li>A->V at 1364: in CBAVD, MIM: 277180</li><li>V->E at 1397: in CF, MIM: 219700</li><li>R->W at 1453: in dbSNP:rs4148725, MIM: 219700</li>					plasma membrane	GO:0005886	<li>Q7JII7</li><li>Q07E42</li><li>Q2QL83</li><li>Q2IBE4</li><li>Q7JII8</li><li>Q5U820</li><li>Q2QLE5</li><li>Q07DW5</li><li>Q108U0</li><li>Q2IBA1</li><li>Q2QLC5</li><li>Q2QLA3</li><li>P13569</li><li>Q09YJ4</li><li>Q07DY5</li><li>Q9TUQ2</li><li>P35071</li><li>Q00554</li><li>Q00553</li><li>Q00552</li><li>P26363</li><li>P26362</li><li>P26361</li><li>Q09YH0</li><li>Q00555</li><li>Q2IBB3</li><li>Q2QLF9</li><li>P34158</li><li>Q07DV2</li><li>Q09YK5</li><li>Q2QLH0</li><li>Q2QLB4</li><li>Q2QL74</li><li>Q6PQZ2</li><li>Q9TSP5</li><li>Q5D1Z7</li><li>Q07DZ6</li><li>Q07DX5</li><li>Q2IBF6</li><li>Q07E16</li>	<li>Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]</li><li>Cystic fibrosis (CF) [MIM:219700]</li>	<li>rs1800078</li><li>rs1800079</li><li>rs1800111</li><li>rs1800110</li><li>rs1800074</li><li>rs1800073</li><li>rs1800076</li><li>rs1800114</li><li>rs35032490</li><li>rs1800080</li><li>rs213950</li><li>rs1800085</li><li>rs1800086</li><li>rs1800087</li><li>rs36210737</li><li>rs1800089</li><li>rs34911792</li><li>rs766874</li><li>rs1801178</li><li>rs1800100</li><li>rs1800101</li><li>rs1800103</li><li>rs11971167</li><li>rs1800106</li><li>rs1800107</li><li>rs1800093</li><li>rs1800091</li><li>rs1800092</li><li>rs1800123</li><li>rs1800097</li><li>rs1800098</li><li>rs35516286</li><li>rs1800120</li><li>rs4148725</li><li>rs1800099</li>	2
P13584	1580		<li>R->W at 173: in allele CYP4B1*3 and allele CYP4B1*6; dbSNP:rs4646487</li><li>R->W at 264: in dbSNP:rs45446505</li><li>S->G at 322: in allele CYP4B1*4: in dbSNP rsrs45467195</li><li>Y->S at 329: in dbSNP:rs12094024</li><li>M->I at 331: in allele CYP4B1*2, allele CYP4B1*7 and allele CYP4B1*5; dbSNP:rs2297810</li><li>R->C at 340: in allele CYP4B1*2 and allele CYP4B1*7; dbSNP:rs4646491</li><li>V->I at 345: in allele CYP4B1*6</li><li>F->C at 354: in dbSNP:rs17102592</li><li>R->C at 375: in allele CYP4B1*2; dbSNP:rs2297809</li><li>R->Q at 482: in dbSNP:rs45622937</li>							<li>P15128</li><li>P13584</li>		<li>rs17102592</li><li>rs2297810</li><li>rs4646487</li><li>rs45467195</li><li>rs2297809</li><li>rs4646491</li><li>rs12094024</li><li>rs45622937</li><li>rs45446505</li>	2
P13591	4684		<li>D->N at 260: in dbSNP:rs17115160</li><li>E->D at 679: in dbSNP:rs17115280</li><li>T->M at 834: in dbSNP:rs17174409</li>									<li>rs17174409</li><li>rs17115280</li><li>rs17115160</li>	2
P13598	3384		<li>A->T at 37: in dbSNP:rs5503</li><li>R->H at 199: in dbSNP:rs5504</li><li>R->Q at 256: in dbSNP:rs3764867</li>									<li>rs3764867</li><li>rs5504</li><li>rs5503</li>	2
P13611	1462		<li>S->L at 300: in dbSNP:rs2652098</li><li>G->D at 428: in dbSNP:rs2287926</li><li>K->R at 1516: in dbSNP:rs309559</li><li>R->H at 1826: in dbSNP:rs188703</li><li>F->Y at 2301: in dbSNP:rs160278</li><li>V->L at 2315: in dbSNP:rs3734094</li><li>D->Y at 2937: in dbSNP:rs160277</li><li>N->K at 3011: in dbSNP:rs16900532</li>									<li>rs3734094</li><li>rs188703</li><li>rs16900532</li><li>rs309559</li><li>rs2287926</li><li>rs2652098</li><li>rs160277</li><li>rs160278</li>	2
P13631	5916		<li>S->L at 427: in dbSNP:rs2229774</li><li>G->S at 430: in a breast cancer sample; somatic mutation</li>									rs2229774	2
P13637	478		<li>I->T at 274: in DYT12, MIM: 128235</li><li>E->K at 277: in DYT12, MIM: 128235</li><li>T->M at 613: in DYT12, MIM: 128235</li><li>I->S at 758: in DYT12, MIM: 128235</li><li>F->L at 780: in DYT12, MIM: 128235</li><li>D->Y at 801: in DYT12, MIM: 128235</li>								Dystonia-12 (DYT12) [MIM:128235]		2
P13645	3858		<li>G->S at 126</li><li>M->R at 150: in BCIE: in dbSNP rsrs58901407, MIM: 113800</li><li>M->T at 150: in epidermal nevus epidermolytic hyperkeratotic type, MIM: 600648</li><li>N->H at 154: in BCIE: in dbSNP rsrs57784225, MIM: 113800</li><li>R->C at 156: in BCIE, MIM: 113800</li><li>R->H at 156: in BCIE: in dbSNP rsrs58075662, MIM: 113800</li><li>R->P at 156: in BCIE, MIM: 113800</li><li>R->S at 156: in BCIE, MIM: 113800</li><li>Y->D at 160: in BCIE; severe phenotype: in dbSNP rsrs58414354, MIM: 113800</li><li>Y->N at 160: in BCIE; severe phenotype, MIM: 113800</li><li>Y->S at 160: in BCIE; severe phenotype: in dbSNP rsrs58735429, MIM: 113800</li><li>L->S at 161: in BCIE: in dbSNP rsrs60118264, MIM: 113800</li><li>R->E at 422: in AEI; requires 2 nucleotide substitutions, MIM: 607602</li><li>K->E at 439: in BCIE; mild phenotype: in dbSNP rsrs61434181, MIM: 113800</li><li>L->Q at 442: in BCIE: in dbSNP rsrs58026994, MIM: 113800</li><li>I->T at 446: in AEI, MIM: 607602</li>							P08478	<li>Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]</li><li>Epidermal nevus epidermolytic hyperkeratotic type [MIM:600648]</li><li>Ichthyosis annular epidermolytic (AEI) [MIM:607602]</li>	<li>rs58735429</li><li>rs58075662</li><li>rs58414354</li><li>rs60118264</li><li>rs58901407</li><li>rs57784225</li><li>rs58026994</li><li>rs61434181</li>	2
P13646	3860		<li>M->T at 108: in WSN: in dbSNP rsrs60364670, MIM: 193900</li><li>L->P at 111: in WSN: in dbSNP rsrs59897026, MIM: 193900</li><li>N->S at 112: in WSN: in dbSNP rsrs59970018, MIM: 193900</li><li>L->P at 115: in WSN: in dbSNP rsrs60906702, MIM: 193900</li><li>L->P at 119: in WSN: in dbSNP rsrs60440396, MIM: 193900</li><li>A->G at 146: in dbSNP:rs760134, MIM: 193900</li>								White sponge nevus of cannon (WSN) [MIM:193900]	<li>rs59970018</li><li>rs760134</li><li>rs60364670</li><li>rs60440396</li><li>rs59897026</li><li>rs60906702</li>	2
P13647	3852		<li>P->L at 25: in MP-EBS: in dbSNP rsrs57499817, MIM: 131960</li><li>S->R at 79: in dbSNP:rs1065115, MIM: 131960</li><li>G->E at 138: in dbSNP:rs11170164, MIM: 131960</li><li>V->D at 143: in K-EBS: in dbSNP rsrs59851104, MIM: 131900</li><li>P->L at 152: in WC-EBS: in dbSNP rsrs60617604, MIM: 131800</li><li>D->V at 158: in WC-EBS: in dbSNP rsrs61222761, MIM: 131800</li><li>I->S at 161: in WC-EBS: in dbSNP rsrs58058996, MIM: 131800</li><li>E->K at 167: in WC-EBS: in dbSNP rsrs57378129, MIM: 131800</li><li>E->K at 168: in DM-EBS: in dbSNP rsrs58619430, MIM: 131760</li><li>R->P at 169: in DM-EBS: in dbSNP rsrs60720877, MIM: 131760</li><li>E->K at 170: in K-EBS: in dbSNP rsrs59115483, MIM: 131900</li><li>K->N at 173: in K-EBS: in dbSNP rsrs58163069, MIM: 131900</li><li>L->F at 175: in DM-EBS: in dbSNP rsrs57890479, MIM: 131760</li><li>N->S at 176: in DM-EBS: in dbSNP rsrs59092197, MIM: 131760</li><li>N->S at 177: in WC-EBS: in dbSNP rsrs61495052, MIM: 131800</li><li>F->S at 179: in DM-EBS: in dbSNP rsrs57781042, MIM: 131760</li><li>S->P at 181: in DM-EBS; with laryngeal involvment: in dbSNP rsrs60715293, MIM: 131760</li><li>V->L at 186: in K-EBS: in dbSNP rsrs61305583, MIM: 131900</li><li>V->M at 186: in K-EBS, MIM: 131900</li><li>E->K at 190: in WC-EBS; requires 2 nucleotide substitutions: in dbSNP rsrs58976397, MIM: 131800</li><li>Q->P at 191: in K-EBS: in dbSNP rsrs57751134, MIM: 131900</li><li>N->K at 193: in DM-EBS and WC-EBS: in dbSNP rsrs60586163, MIM: 131800</li><li>D->E at 197: in dbSNP:rs641615, MIM: 131800</li><li>K->T at 199: in WC-EBS: in dbSNP rsrs58766676, MIM: 131800</li><li>S->N at 232: in dbSNP:rs3194286, MIM: 131800</li><li>L->P at 311: in WC-EBS, MIM: 131800</li><li>V->A at 323: in K-EBS: in dbSNP rsrs59840738, MIM: 131900</li><li>V->D at 324: in WC-EBS: in dbSNP rsrs59335325, MIM: 131800</li><li>L->P at 325: in K-EBS: in dbSNP rsrs58107458, MIM: 131900</li><li>M->K at 327: in WC-EBS, MIM: 131800</li><li>M->T at 327: in WC-EBS: in dbSNP rsrs58072617, MIM: 131800</li><li>D->E at 328: in WC-EBS: in dbSNP rsrs59464425, MIM: 131800</li><li>D->G at 328: in WC-EBS, MIM: 131800</li><li>D->H at 328: in WC-EBS: in dbSNP rsrs56790237, MIM: 131800</li><li>D->V at 328: in WC-EBS: in dbSNP rsrs57142010, MIM: 131800</li><li>N->K at 329: in WC-EBS: in dbSNP rsrs59730172, MIM: 131800</li><li>R->C at 331: in WC-EBS: in dbSNP rsrs61297109, MIM: 131800</li><li>R->H at 331: in WC-EBS: in dbSNP rsrs56729325, MIM: 131800</li><li>R->S at 352: in WC-EBS: in dbSNP rsrs59112594, MIM: 131800</li><li>S->T at 387: in dbSNP:rs2669875, MIM: 131800</li><li>K->E at 404: in WC-EBS: in dbSNP rsrs60809982, MIM: 131800</li><li>E->K at 418: in K-EBS, MIM: 131900</li><li>A->D at 438: in WC-EBS: in dbSNP rsrs57845028, MIM: 131800</li><li>L->P at 463: in K-EBS: in dbSNP rsrs57599352, MIM: 131900</li><li>I->T at 467: in DM-EBS: in dbSNP rsrs60271599, MIM: 131760</li><li>T->P at 469: in DM-EBS: in dbSNP rsrs60596287, MIM: 131760</li><li>E->G at 475: in DM-EBS: in dbSNP rsrs61348633, MIM: 131760</li><li>E->K at 475: in DM-EBS: in dbSNP rsrs57155193, MIM: 131760</li><li>E->K at 477: in DM-EBS: in dbSNP rsrs59190510, MIM: 131760</li><li>G->D at 517: in K-EBS: in dbSNP rsrs58608695, MIM: 131900</li><li>S->G at 528: in dbSNP:rs11549950, MIM: 131900</li><li>G->S at 543: in dbSNP:rs11549949, MIM: 131900</li>								<li>Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]</li><li>Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]</li><li>Epidermolysis bullosa simplex with mottled pigmentation (MP-EBS) [MIM:131960]</li><li>Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]</li>	<li>rs59112594</li><li>rs61297109</li><li>rs57751134</li><li>rs60596287</li><li>rs57499817</li><li>rs58107458</li><li>rs58619430</li><li>rs57378129</li><li>rs11549950</li><li>rs60271599</li><li>rs58766676</li><li>rs11549949</li><li>rs59464425</li><li>rs59840738</li><li>rs57142010</li><li>rs58058996</li><li>rs56790237</li><li>rs3194286</li><li>rs58976397</li><li>rs60715293</li><li>rs61495052</li><li>rs57890479</li><li>rs60617604</li><li>rs57155193</li><li>rs59730172</li><li>rs58072617</li><li>rs60809982</li><li>rs57845028</li><li>rs59092197</li><li>rs58163069</li><li>rs61348633</li><li>rs641615</li><li>rs61305583</li><li>rs1065115</li><li>rs59190510</li><li>rs58608695</li><li>rs59851104</li><li>rs57781042</li><li>rs60720877</li><li>rs60586163</li><li>rs57599352</li><li>rs56729325</li><li>rs11170164</li><li>rs59115483</li><li>rs2669875</li><li>rs59335325</li><li>rs61222761</li>	2
P13667	9601		<li>T->M at 173: in dbSNP:rs2290971</li>									rs2290971	2
P13671	729		<li>A->E at 119: in allotype C6 A; dbSNP:rs1801033</li><li>K->E at 397: in dbSNP:rs6896011</li><li>S->F at 470: in dbSNP:rs10462014</li>									<li>rs6896011</li><li>rs1801033</li><li>rs10462014</li>	2
P13686	54		<li>V->M at 148: in dbSNP:rs2305799</li><li>V->M at 200: in dbSNP:rs2229531</li><li>V->I at 221: in dbSNP:rs2229532</li>									<li>rs2305799</li><li>rs2229532</li><li>rs2229531</li>	2
P13688	634		<li>Q->K at 35: in dbSNP:rs8111171</li><li>A->V at 83: in dbSNP:rs8110904</li><li>Q->H at 123: in dbSNP:rs8111468</li><li>Q->R at 376: in dbSNP:rs41355544</li>									<li>rs8111468</li><li>rs41355544</li><li>rs8111171</li><li>rs8110904</li>	2
P13693	7178		<li>V->F at 146: in dbSNP:rs3087989</li>									rs3087989	2
P13716	210		<li>F->L at 12: in an asymptomatic patient with ALAD deficiency; significant reduction of activity</li><li>K->N at 59: in allele ALAD*2; 10% of population; dbSNP:rs1800435</li><li>G->R at 133: in AHP, MIM: 125270</li><li>V->M at 153: in AHP; reduction of activity, MIM: 125270</li><li>R->W at 240: in AHP, MIM: 125270</li><li>A->T at 274: in AHP, MIM: 125270</li><li>V->M at 275: in AHP, MIM: 125270</li>							<li>Q8CNZ0</li><li>P43210</li><li>Q43058</li><li>P54919</li><li>Q59334</li><li>O84638</li><li>Q9PLU4</li><li>P0C1R9</li><li>P30950</li><li>Q02250</li><li>P0ACB2</li><li>P0ACB3</li><li>Q9ZMR8</li><li>Q6GG37</li><li>Q2FXR3</li><li>Q59295</li><li>Q5R971</li><li>Q42836</li><li>P43087</li><li>Q5HFA4</li><li>O26839</li><li>P56074</li><li>Q9Z7G1</li><li>P45622</li><li>Q6G8Q7</li><li>P45623</li><li>P24493</li><li>O33357</li><li>P30124</li><li>P13716</li><li>P42504</li><li>Q60178</li><li>Q9K8G2</li><li>Q5HNN5</li><li>P64333</li><li>P64335</li><li>P64334</li><li>O67876</li><li>P77923</li><li>Q59643</li><li>Q60HH9</li><li>Q8KCJ0</li><li>O28305</li><li>P77969</li><li>P46723</li><li>Q42682</li>	Acute hepatic porphyria (AHP) [MIM:125270]		2
P13726	2152		<li>T->A at 36: in dbSNP:rs3917604</li><li>I->V at 145: in dbSNP:rs3917627</li><li>R->W at 163: in dbSNP:rs5901</li><li>G->E at 281: in dbSNP:rs3789683</li>									<li>rs3917604</li><li>rs5901</li><li>rs3789683</li><li>rs3917627</li>	2
P13727	5553		<li>R->C at 179: in a colorectal cancer sample; somatic mutation</li>										2
P13746			<li>E->K at 43: in allele A*1102</li><li>F->L at 133: in allele A*1107</li><li>K->E at 168: in allele A*1105</li><li>H->R at 175: in allele A*1103</li><li>A->E at 176: in allele A*1103</li><li>R->T at 187: in allele A*1104</li><li>T->S at 345: in allele A*1105</li>										2
P13747			<li>G->R at 104: in allele E*0102</li><li>R->G at 128: in allele E*0103 and allele E*0104; dbSNP:rs1264457</li><li>R->G at 178: in allele E*0104</li>										2
P13760			<li>D->S at 86: in allele DRB1*0411; requires 2 nucleotide substitutions</li><li>L->I at 96: in allele DRB1*0402</li><li>Q->D at 99: in allele DRB1*0402; requires 2 nucleotide substitutions</li><li>K->E at 100: in allele DRB1*0402</li><li>K->R at 100: in allele DRB1*0403, allele DRB1*0404 and allele DRB1*0411</li><li>A->E at 103: in allele DRB1*0403 and allele DRB1*0411</li><li>G->V at 115: in allele DRB1*0402, allele DRB1*0403, allele DRB1*0404 and allele DRB1*0411</li>							Q8IUH3			2
P13761			<li>R->S at 58: in allele DRB1*0703</li><li>T->N at 106: in allele DRB1*0704</li><li>V->Y at 107: in allele DRB1*0704; requires 2 nucleotide substitutions</li>							Q8IUH3			2
P13765	3112		<li>R->Q at 18: in allele DOB*0102; dbSNP:rs2071554</li><li>V->I at 210: in dbSNP:rs11575907</li><li>L->F at 234: in allele DOB*0104; dbSNP:rs2070121</li><li>V->I at 244: in allele DOB*0103; dbSNP:rs2621330</li>									<li>rs2621330</li><li>rs2070121</li><li>rs2071554</li><li>rs11575907</li>	2
P13796	3936		<li>D->E at 24</li><li>E->K at 533: in dbSNP:rs4941543</li><li>P->A at 544: in dbSNP:rs17067725</li>									<li>rs17067725</li><li>rs4941543</li>	2
P13797	5358		<li>D->A at 488: in a breast cancer sample; somatic mutation</li>										2
P13798	327		<li>T->M at 541: in dbSNP:rs3816877</li>									rs3816877	2
P13804	2108		<li>G->R at 116: in GA2A, MIM: 231680</li><li>V->G at 157: in GA2A, MIM: 231680</li><li>T->I at 171: in dbSNP:rs1801591, MIM: 231680</li><li>T->M at 266: in GA2A, MIM: 231680</li>								Glutaric aciduria type 2A (GA2A) [MIM:231680]	rs1801591	2
P13807	2997		<li>I->M at 108: in dbSNP:rs5455</li><li>K->E at 130: in dbSNP:rs5456</li><li>N->S at 283: in dbSNP:rs5461</li><li>E->G at 359: in dbSNP:rs5465</li><li>M->V at 416: in dbSNP:rs5447</li><li>G->S at 464: in NIDDM</li><li>E->Q at 619: in dbSNP:rs5450</li><li>P->A at 691: in dbSNP:rs5453</li>									<li>rs5456</li><li>rs5455</li><li>rs5447</li><li>rs5453</li><li>rs5461</li><li>rs5450</li><li>rs5465</li>	2
P13928	244		<li>S->A at 6</li><li>G->A at 177: in dbSNP:rs3013886</li>									rs3013886	2
P13929	2027		<li>N->S at 71: in dbSNP:rs238238</li><li>V->A at 85: in dbSNP:rs238239</li><li>G->D at 156: in muscle-specific beta-enolase deficiency; when associated with E-374</li><li>G->E at 374: in muscle-specific beta-enolase deficiency; when associated with D-156</li>							<li>P15429</li><li>P13929</li><li>P07322</li><li>P25704</li><li>P21550</li>		<li>rs238239</li><li>rs238238</li>	2
P13942	1302		<li>P->S at 236: in dbSNP:rs35116188</li><li>E->K at 276: in dbSNP:rs9277934</li><li>D->G at 593</li><li>P->T at 621: in DFNB53, MIM: 609706</li><li>G->R at 661: in OSMED, MIM: 215150</li><li>G->E at 808: in DFNA13, MIM: 601868</li><li>E->K at 824: in dbSNP:rs1799909, MIM: 601868</li><li>P->L at 879, MIM: 601868</li><li>P->L at 894: in dbSNP:rs2855430, MIM: 601868</li><li>Missing  at 940-948: in STL3, MIM: 601868</li><li>R->C at 1034: in DFNA13, MIM: 601868</li><li>P->T at 1316: in dbSNP:rs2229784, MIM: 601868</li><li>G->E at 1441: in WZS, MIM: 277610</li><li>R->Q at 1600: in dbSNP:rs1799912, MIM: 277610</li><li>E->D at 1628: in dbSNP:rs2229790, MIM: 277610</li><li>P->L at 1722: in dbSNP:rs2229792, MIM: 277610</li>								<li>Non-syndromic sensorineural deafness autosomal recessive type 53 (DFNB53) [MIM:609706]</li><li>Weissenbacher-Zweymueller syndrome (WZS) [MIM:277610]</li><li>Autosomal recessive otospondylomegaepiphyseal dysplasia (OSMED) [MIM:215150]</li><li>Non-syndromic sensorineural deafness autosomal dominant type 13 (DFNA13) [MIM:601868]</li>	<li>rs2855430</li><li>rs2229790</li><li>rs1799909</li><li>rs9277934</li><li>rs2229792</li><li>rs1799912</li><li>rs2229784</li><li>rs35116188</li>	2
P13945	155		<li>W->R at 64: in dbSNP:rs4994</li><li>E->K at 249: in dbSNP:rs28364012</li><li>T->M at 265: in dbSNP:rs4995</li><li>R->C at 353: in dbSNP:rs36031925</li>									<li>rs4995</li><li>rs28364012</li><li>rs4994</li><li>rs36031925</li>	2
P13994	81576		<li>S->C at 22: in dbSNP:rs12974461</li><li>C->S at 336: in dbSNP:rs35761244</li>									<li>rs35761244</li><li>rs12974461</li>	2
P14060	3283		<li>T->I at 54: in dbSNP:rs3088283</li><li>R->I at 71: in dbSNP:rs4986952</li><li>I->V at 79: in dbSNP:rs6201</li><li>G->S at 90: in dbSNP:rs6684974</li><li>F->L at 286: in dbSNP:rs6205</li><li>T->N at 367: in dbSNP:rs1047303</li>									<li>rs3088283</li><li>rs6684974</li><li>rs1047303</li><li>rs6201</li><li>rs4986952</li><li>rs6205</li>	2
P14136	2670		<li>P->L at 47: in Alexander disease; could be a polymorphism: in dbSNP rsrs57474185, MIM: 203450</li><li>L->F at 76: in Alexander disease: in dbSNP rsrs57120761, MIM: 203450</li><li>N->Y at 77: in Alexander disease: in dbSNP rsrs58732244, MIM: 203450</li><li>D->E at 78: in Alexander disease; adult form, MIM: 203450</li><li>R->C at 79: in Alexander disease: in dbSNP rsrs59793293, MIM: 203450</li><li>R->H at 79: in Alexander disease: in dbSNP rsrs59285727, MIM: 203450</li><li>R->C at 88: in Alexander disease: in dbSNP rsrs61622935, MIM: 203450</li><li>R->S at 88: in Alexander disease, MIM: 203450</li><li>E->Q at 223: in Alexander disease; adult form: in dbSNP rsrs56679084, MIM: 203450</li><li>R->C at 239: in Alexander disease: in dbSNP rsrs58064122, MIM: 203450</li><li>R->H at 239: in Alexander disease: in dbSNP rsrs59565950, MIM: 203450</li><li>A->V at 244: in Alexander disease: in dbSNP rsrs61497286, MIM: 203450</li><li>R->P at 258: in Alexander disease: in dbSNP rsrs61726468, MIM: 203450</li><li>D->N at 295: in dbSNP:rs1126642, MIM: 203450</li><li>E->D at 362: in Alexander disease: in dbSNP rsrs28932768, MIM: 203450</li><li>R->W at 416: in Alexander disease, MIM: 203450</li>								Alexander disease [MIM:203450]	<li>rs59793293</li><li>rs56679084</li><li>rs28932768</li><li>rs57120761</li><li>rs59285727</li><li>rs58064122</li><li>rs61726468</li><li>rs57474185</li><li>rs1126642</li><li>rs59565950</li><li>rs61622935</li><li>rs58732244</li><li>rs61497286</li>	2
P14138	1908		<li>A->T at 17: in HSCR1; dbSNP:rs11570255, MIM: 142623</li><li>Y->C at 127: in WS4, MIM: 277580</li><li>C->F at 159: in WS4, MIM: 277580</li><li>A->T at 224: in HSCR1; dbSNP:rs11570351, MIM: 142623</li>								<li>Hirschsprung disease type 1 (HSCR1) [MIM:142623]</li><li>Waardenburg syndrome type IV (WS4) [MIM:277580]</li>	<li>rs11570351</li><li>rs11570255</li>	2
P14151	6402		<li>F->L at 193: in dbSNP:rs1131498</li><li>E->Q at 201: in dbSNP:rs2229568</li><li>P->S at 213: in dbSNP:rs2229569</li><li>N->D at 369: in dbSNP:rs4987382</li>									<li>rs2229569</li><li>rs4987382</li><li>rs1131498</li><li>rs2229568</li>	2
P14207	2350		<li>H->N at 236: in a breast cancer sample; somatic mutation</li>										2
P14209	4267		<li>M->V at 166: in dbSNP:rs11556080</li><li>N->I at 173: in dbSNP:rs4717</li>									<li>rs4717</li><li>rs11556080</li>	2
P14222	5551		<li>V->M at 50: in FHL2, MIM: 603553</li><li>A->V at 91: in dbSNP:rs35947132, MIM: 603553</li><li>R->H at 123, MIM: 603553</li><li>V->M at 135: in dbSNP:rs12263572, MIM: 603553</li><li>V->G at 183: in FHL2, MIM: 603553</li><li>I->N at 224: in FHL2, MIM: 603553</li><li>R->W at 225: in FHL2; dbSNP:rs28933973, MIM: 603553</li><li>N->S at 252: in FHL2; dbSNP:rs28933375, MIM: 603553</li><li>C->Y at 279: in FHL2, MIM: 603553</li><li>Missing  at 285: in FHL2, MIM: 603553</li><li>P->L at 345: in FHL2; dbSNP:rs28933374, MIM: 603553</li><li>G->E at 429: in FHL2, MIM: 603553</li>							Q14192	Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553]	<li>rs35947132</li><li>rs12263572</li><li>rs28933374</li><li>rs28933973</li><li>rs28933375</li>	2
P14314	5589		<li>S->N at 74: in dbSNP:rs10406672</li><li>A->T at 291: in dbSNP:rs11557488</li><li>A->G at 338: in dbSNP:rs35847588</li>									<li>rs10406672</li><li>rs35847588</li><li>rs11557488</li>	2
P14324	2224		<li>I->V at 391: in dbSNP:rs17456</li>									rs17456	2
P14406	1347		<li>E->D at 40</li>										2
P14410	6476		<li>V->F at 15: in dbSNP:rs9290264</li><li>Q->R at 117: in CSID; missorting of the enzyme to the basolateral membrane, MIM: 222900</li><li>A->T at 231: in dbSNP:rs9283633, MIM: 222900</li><li>L->P at 341: in CSID; causes loss of anchored SI from the membrane, MIM: 222900</li><li>V->G at 577: in CSID, MIM: 222900</li><li>S->P at 594: in CSID, MIM: 222900</li><li>L->P at 620: in CSID; SI accumulates predominantly in the ER, MIM: 222900</li><li>T->P at 694: in CSID, MIM: 222900</li><li>G->D at 1073: in CSID, MIM: 222900</li><li>Q->P at 1098: in CSID; exhibits intracellular accumulation of mannose-rich SI in the Golgi, MIM: 222900</li><li>C->Y at 1229: in CSID, MIM: 222900</li><li>R->G at 1367: in CSID, MIM: 222900</li><li>I->M at 1523: in dbSNP:rs4855271, MIM: 222900</li><li>F->C at 1745: in CSID, MIM: 222900</li><li>T->S at 1802: in dbSNP:rs9917722, MIM: 222900</li>					<li>intracellular</li><li>membrane</li><li>ER</li>	<li>GO:0005622</li><li>GO:0016020</li><li>GO:0005783</li>		Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	<li>rs9290264</li><li>rs9283633</li><li>rs9917722</li><li>rs4855271</li>	2
P14415	482		<li>T->A at 199: in dbSNP:rs2227866</li>									rs2227866	2
P14416	1813		<li>V->I at 154: in DYT11; the contribution to this phenotype is unclear, MIM: 159900</li><li>P->S at 310: in dbSNP:rs1800496, MIM: 159900</li><li>S->C at 311: associated with schizophrenia; dbSNP:rs1801028, MIM: 159900</li>								Myoclonus dystonia (MD) [MIM:159900]	<li>rs1801028</li><li>rs1800496</li>	2
P14543	4811		<li>I->V at 246: in dbSNP:rs10733133</li><li>Q->R at 669: in dbSNP:rs3738534</li><li>F->S at 1036: in a colorectal cancer sample; somatic mutation</li>									<li>rs3738534</li><li>rs10733133</li>	2
P14555	5320		<li>H->Y at 19: in dbSNP:rs11573162</li>									rs11573162	2
P14598	653361		<li>R->Q at 42: in CGD1, MIM: 233700</li><li>R->H at 90: in dbSNP:rs13447, MIM: 233700</li><li>S->G at 99: in dbSNP rsrs17856077, MIM: 233700</li><li>T->S at 160, MIM: 233700</li><li>D->N at 166: in dbSNP:rs4868, MIM: 233700</li><li>K->E at 258, MIM: 233700</li><li>G->S at 262, MIM: 233700</li><li>A->V at 308: in dbSNP:rs13739, MIM: 233700</li>								Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 1 (CGD1) [MIM:233700]	<li>rs13447</li><li>rs13739</li><li>rs17856077</li><li>rs4868</li>	2
P14616	3645		<li>A->E at 127: in dbSNP rsrs55757706</li><li>A->V at 161: in dbSNP rsrs55971900</li><li>R->H at 244: in dbSNP rsrs55951840</li><li>C->R at 246: in dbSNP rsrs56377825</li><li>E->Q at 278: in a lung adenocarcinoma sample; somatic mutation</li><li>R->C at 554: in dbSNP rsrs56068937</li><li>P->L at 928: in dbSNP rsrs56252149</li><li>G->E at 1065: in a glioblastoma multiforme sample; somatic mutation</li>									<li>rs55757706</li><li>rs56377825</li><li>rs55951840</li><li>rs56252149</li><li>rs56068937</li><li>rs55971900</li>	2
P14618	5315		<li>G->V at 204: in dbSNP:rs17853396</li>									rs17853396	2
P14619	5592		<li>I->V at 264: in dbSNP rsrs56082459</li><li>N->S at 282: in dbSNP:rs34997494</li>									<li>rs34997494</li><li>rs56082459</li>	2
P14651	3213		<li>P->T at 82: in dbSNP:rs2229304</li>									rs2229304	2
P14653	3211		<li>A->AHSA at 27: in allele HOXB1*B</li>							<li>Q90346</li><li>P31259</li><li>P14653</li>			2
P14678	6628		<li>S->P at 79: in dbSNP:rs11545672</li>									rs11545672	2
P14679	7299		<li>H->Q at 19: in OCA-IA, MIM: 203100</li><li>P->S at 21: in OCA-IA, MIM: 203100</li><li>C->Y at 36: in OCA-IA, MIM: 203100</li><li>D->G at 42: in OCA-IA; dbSNP:rs28940878, MIM: 203100</li><li>S->G at 44: in OCA-IA, MIM: 203100</li><li>S->R at 44: in OCA-IA, MIM: 203100</li><li>G->D at 47: in OCA-IA, MIM: 203100</li><li>G->V at 47: in OCA-IA, MIM: 203100</li><li>R->I at 52: in OCA-I, MIM: 203100</li><li>C->Y at 55: in OCA-IA; dbSNP:rs28940879, MIM: 203100</li><li>Q->H at 68: in OCA-IA, MIM: 203100</li><li>R->Q at 77: in OCA-IA, MIM: 203100</li><li>R->RR at 77: in OCA-IA, MIM: 203100</li><li>R->W at 77: in OCA-IA and OCA-IB, MIM: 606952</li><li>S->L at 79: in OCA-IA, MIM: 203100</li><li>W->R at 80: in OCA-IA, MIM: 203100</li><li>P->L at 81: in OCA-IA; dbSNP:rs28940876, MIM: 203100</li><li>C->R at 89: in OCA-IA; dbSNP:rs28940877, MIM: 203100</li><li>G->R at 97: in OCA-IA, MIM: 203100</li><li>G->R at 109: in OCA-IA, MIM: 203100</li><li>F->C at 134: in dbSNP:rs33955261, MIM: 203100</li><li>K->N at 142: in dbSNP:rs11545463, MIM: 203100</li><li>P->S at 152: in OCA-IB, MIM: 606952</li><li>T->S at 155: in OCA-IA, MIM: 203100</li><li>F->I at 176: in OCA-IA, MIM: 203100</li><li>V->F at 177: in OCA-IA, MIM: 203100</li><li>M->L at 179: in OCA-IA, MIM: 203100</li><li>H->N at 180: in OCA-IA, MIM: 203100</li><li>S->Y at 192: associated with SHEP3; light/dark skin; dbSNP:rs1042602: in dbSNP rsrs61569485,rs1042602, MIM: 203100</li><li>D->N at 199: in OCA-IA, MIM: 203100</li><li>A->S at 201: in OCA-IA, MIM: 203100</li><li>P->T at 205: in OCA-IA, MIM: 203100</li><li>A->T at 206: in OCA-IA; dbSNP:rs28940880, MIM: 203100</li><li>L->M at 216: in OCA-IA, MIM: 203100</li><li>R->G at 217: in OCA-IA, MIM: 203100</li><li>R->Q at 217: in OCA-IA, MIM: 203100</li><li>R->S at 217: in OCA-IA, MIM: 203100</li><li>R->W at 217: in OCA-IA, MIM: 203100</li><li>Missing  at 217: in OCA-IA, MIM: 203100</li><li>Missing  at 227: in OCA-IA, MIM: 203100</li><li>W->L at 236: in OCA-IA, MIM: 203100</li><li>W->S at 236: in OCA-IA, MIM: 203100</li><li>R->W at 239: in OCA-IA, MIM: 203100</li><li>D->V at 240: in OCA-IA, MIM: 203100</li><li>K->T at 243: in OCA-IA, MIM: 203100</li><li>G->R at 253: in OCA-IA, MIM: 203100</li><li>H->Y at 256: in OCA-IA, MIM: 203100</li><li>W->C at 272: in OCA-IA, MIM: 203100</li><li>V->F at 275: in OCA-IB, MIM: 606952</li><li>L->S at 288: in OCA-IA, MIM: 203100</li><li>C->G at 289: in OCA-IA, MIM: 203100</li><li>C->R at 289: in OCA-IA, MIM: 203100</li><li>E->G at 294: in OCA-IA, MIM: 203100</li><li>E->K at 294: in OCA-IA/IB, MIM: 203100</li><li>R->H at 299: in OCA-IA, MIM: 203100</li><li>R->S at 299: in OCA-IB, MIM: 606952</li><li>R->T at 308: in dbSNP:rs1042608, MIM: 606952</li><li>L->V at 312: in OCA-I, MIM: 606952</li><li>P->R at 313: in OCA-I, MIM: 606952</li><li>V->E at 318: in OCA-IA, MIM: 203100</li><li>T->A at 325: in OCA-IB, MIM: 606952</li><li>E->Q at 328: in OCA-IA, MIM: 203100</li><li>S->P at 329: in OCA-IA, MIM: 203100</li><li>M->T at 332: in OCA-IA, MIM: 203100</li><li>S->G at 339: in OCA-IA, MIM: 203100</li><li>F->L at 340: in OCA-I, MIM: 203100</li><li>E->G at 345: in OCA-IA, MIM: 203100</li><li>G->E at 346: in OCA-IA, MIM: 203100</li><li>A->E at 355: in OCA-IA, MIM: 203100</li><li>A->P at 355: in OCA-IA and OCA-IB, MIM: 606952</li><li>S->R at 361: in OCA-IA, MIM: 203100</li><li>H->Y at 367: in OCA, MIM: 203100</li><li>M->T at 370: in OCA-IA, MIM: 203100</li><li>N->T at 371: in OCA-IA, MIM: 203100</li><li>N->Y at 371: in OCA-IA, MIM: 203100</li><li>T->K at 373: in OCA-IA, MIM: 203100</li><li>Q->K at 378: in OCA-IA, MIM: 203100</li><li>S->P at 380: in OCA-IB, MIM: 606952</li><li>N->K at 382: in OCA-IA, MIM: 203100</li><li>D->N at 383: in OCA-IA, MIM: 203100</li><li>H->D at 390: in OCA-IB, MIM: 606952</li><li>V->F at 393: in OCA-IA, MIM: 203100</li><li>S->N at 395: in OCA-IA, MIM: 203100</li><li>S->R at 395: in OCA-IA, MIM: 203100</li><li>E->A at 398: in OCA-IA, MIM: 203100</li><li>E->V at 398: in OCA-IA, MIM: 203100</li><li>W->L at 400: in OCA-IA, MIM: 203100</li><li>R->G at 402: in OCA-IB, MIM: 606952</li><li>R->L at 402: in OCA-IA, MIM: 203100</li><li>R->Q at 402: in dbSNP:rs1126809, MIM: 203100</li><li>R->S at 403: in OCA-IA and OCA-IB, MIM: 606952</li><li>H->N at 404: in OCA-IA, MIM: 203100</li><li>H->P at 404: in OCA-I, MIM: 203100</li><li>R->L at 405: in OCA-IA, MIM: 203100</li><li>P->L at 406: in OCA-IA and OCA-IB, MIM: 606952</li><li>Q->H at 408: in OCA-IA, MIM: 203100</li><li>E->D at 409: in OCA-IA, MIM: 203100</li><li>A->S at 416: in OCA-IA, MIM: 203100</li><li>P->H at 417: in OCA-IA, MIM: 203100</li><li>G->R at 419: in OCA-IA, MIM: 203100</li><li>R->Q at 422: in OCA-ITS and OCA-IA, MIM: 203100</li><li>S->F at 424: in OCA-IA, MIM: 203100</li><li>M->K at 426: in OCA-IA, MIM: 203100</li><li>V->G at 427: in OCA-IA, MIM: 203100</li><li>P->L at 431: in OCA-IA, MIM: 203100</li><li>R->I at 434: in OCA-IA, MIM: 203100</li><li>N->D at 435: in OCA-IA, MIM: 203100</li><li>F->V at 439: in OCA-IA, MIM: 203100</li><li>D->G at 444: in OCA-IA, MIM: 203100</li><li>G->S at 446: in OCA-IA, MIM: 203100</li><li>D->N at 448: in OCA-IA and OCA-IB, MIM: 606952</li>								<li>Oculocutaneous albinism type IA (OCA-IA) [MIM:203100]</li><li>Oculocutaneous albinism type I temperature-sensitive (OCA-ITS) [MIM:606952]</li><li>Oculocutaneous albinism type IB (OCA-IB) [MIM:606952]</li>	<li>rs33955261</li><li>rs1126809</li><li>rs28940880</li><li>rs1042608</li><li>rs11545463</li><li>rs61569485</li><li>rs28940879</li><li>rs28940876</li><li>rs1042602</li><li>rs28940877</li><li>rs28940878</li>	2
P14735	3416		<li>E->K at 612: in dbSNP:rs2229708</li>									rs2229708	2
P14770	2815		<li>L->P at 7: in BSS, MIM: 231200</li><li>C->R at 24: in BSS: in dbSNP rsrs28933378, MIM: 231200</li><li>D->G at 37: in BSS, MIM: 231200</li><li>L->P at 56: in BSS: in dbSNP rsrs28933377, MIM: 231200</li><li>N->S at 61: in BSS; dbSNP:rs5030764, MIM: 231200</li><li>F->S at 71: in BSS, MIM: 231200</li><li>C->Y at 113: in BSS, MIM: 231200</li><li>A->T at 156: in BSS: in dbSNP rsrs3796130, MIM: 231200</li>								Bernard-Soulier syndrome (BSS) [MIM:231200]	<li>rs28933377</li><li>rs28933378</li><li>rs3796130</li><li>rs5030764</li>	2
P14778	3554		<li>A->G at 124: in dbSNP:rs2228139</li><li>T->M at 344: in dbSNP:rs28362304</li>									<li>rs28362304</li><li>rs2228139</li>	2
P14780	4318	<ul><li>E->Q at 402: Loss of activity</li></ul>	<li>A->V at 20: in dbSNP:rs1805088</li><li>N->S at 38: in dbSNP:rs41427445</li><li>E->K at 82: in dbSNP:rs1805089</li><li>N->K at 127: in dbSNP:rs3918252</li><li>R->H at 239: in dbSNP:rs28763886</li><li>Q->R at 279: common polymorphism; may be associated with susceptibility to LDH; dbSNP:rs17576</li><li>F->V at 571: in dbSNP:rs35691798</li><li>P->R at 574: in dbSNP:rs2250889</li><li>R->Q at 668: in dbSNP:rs17577</li>							<li>Q95028</li><li>Q27888</li><li>Q27797</li><li>P93052</li><li>P33571</li><li>P29038</li><li>Q99289</li>		<li>rs41427445</li><li>rs2250889</li><li>rs28763886</li><li>rs1805088</li><li>rs35691798</li><li>rs17576</li><li>rs17577</li><li>rs3918252</li><li>rs1805089</li>	3
P14854	1340		<li>R->H at 20: in two siblings with severe infantile encephalomyopathy</li>										2
P14859	5451		<li>S->F at 88: in a breast cancer sample; somatic mutation</li>										2
P14867	2554		<li>A->D at 322: in EJM, MIM: 606904</li>								Juvenile myoclonic epilepsy (EJM) [MIM:606904]		2
P14868	1615		<li>L->F at 426: in dbSNP:rs1803165</li>									rs1803165	2
P14902	3620		<li>A->T at 4: in dbSNP:rs35059413</li>									rs35059413	2
P14923	3728		<li>S->SS at 39: in ARVD12; affects the structure and distribution of mechanical and electrical cell junctions</li><li>M->L at 697: in dbSNP:rs1126821</li>					cell junctions	GO:0030054			rs1126821	2
P14927	7381		<li>L->P at 30: in dbSNP:rs35895613</li>									rs35895613	2
P15056	673		<li>A->P at 246: in CFC syndrome, MIM: 115150</li><li>Q->R at 257: in CFC syndrome, MIM: 115150</li><li>P->S at 301: in dbSNP rsrs34776339, MIM: 115150</li><li>R->I at 462: in colorectal cancer, MIM: 114500</li><li>I->S at 463: in colorectal cancer, MIM: 114500</li><li>G->E at 464: in colorectal cancer, MIM: 114500</li><li>G->V at 464: in a colorectal cancer cell line; elevated kinase activity; efficiently induces cell transformation, MIM: 114500</li><li>G->A at 466: in melanoma, MIM: 114500</li><li>G->E at 466: in melanoma, MIM: 114500</li><li>G->V at 466: in lung cancer, MIM: 211980</li><li>S->A at 467: in CFC syndrome, MIM: 115150</li><li>F->S at 468: in CFC syndrome, MIM: 115150</li><li>G->A at 469: in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation, MIM: 605027</li><li>G->E at 469: in CFC syndrome and colon cancer, MIM: 115150</li><li>G->R at 469: in NHL, MIM: 605027</li><li>G->V at 469: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 605027</li><li>L->F at 485: in CFC syndrome, MIM: 115150</li><li>K->E at 499: in CFC syndrome, MIM: 115150</li><li>E->G at 501: in CFC syndrome, MIM: 115150</li><li>E->K at 501: in CFC syndrome, MIM: 115150</li><li>N->D at 581: in CFC syndrome, MIM: 115150</li><li>N->S at 581: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 115150</li><li>E->K at 586: in ovarian cancer, MIM: 115150</li><li>D->G at 594: in NHL, MIM: 605027</li><li>F->L at 595: in colon cancer, MIM: 605027</li><li>G->R at 596: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 605027</li><li>G->V at 596: in CFC syndrome, MIM: 115150</li><li>L->R at 597: in lung cancer and ovarian cancer; ovarian serous carcinoma sample; somatic mutation, MIM: 211980</li><li>L->V at 597: in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation, MIM: 211980</li><li>V->D at 600: in a melanoma cell line; requires 2 nucleotide substitutions, MIM: 211980</li><li>V->E at 600: in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma; somatic mutation; most common mutation; elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis, MIM: 211980</li><li>K->E at 601: in colorectal cancer, MIM: 114500</li>	apoptosis	GO:0006915	kinase activity	GO:0016301			Q9NZ71	<li>Non-Hodgkin lymphoma (NHL) [MIM:605027]</li><li>Lung cancer [MIM:211980]</li><li>Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]</li><li>Colorectal cancer (CRC) [MIM:114500]</li>	rs34776339	2
P15085	1357		<li>A->T at 208: in dbSNP:rs34474469</li><li>H->R at 276: in dbSNP:rs17849959</li>									<li>rs17849959</li><li>rs34474469</li>	2
P15086	1360		<li>D->N at 208: in dbSNP:rs1059502</li>									rs1059502	2
P15088	1359		<li>A->S at 81: in dbSNP:rs2270523</li><li>M->T at 171: in dbSNP:rs12489516</li>									<li>rs12489516</li><li>rs2270523</li>	2
P15090	2167		<li>E->D at 23: in a breast cancer sample; somatic mutation</li>										2
P15104	2752		<li>R->C at 324: in CSGD; reduced glutamine synthetase activity, MIM: 610015</li><li>R->C at 341: in CSGD; suggests reduced glutamine synthetase activity, MIM: 610015</li>							<li>P0A1P6</li><li>Q9CDL9</li><li>P0A1P7</li><li>Q96UV5</li><li>P94126</li><li>P15105</li><li>Q75BT9</li><li>P15106</li><li>P0A040</li><li>P15103</li><li>P15104</li><li>P12424</li><li>P43518</li><li>P36205</li><li>P12425</li><li>P16580</li><li>P11600</li><li>Q9ZLW5</li><li>Q9UY99</li><li>O29313</li><li>Q9KNJ2</li><li>O27612</li><li>Q8X169</li><li>P19064</li><li>O08467</li><li>Q8HZM5</li><li>O66514</li><li>Q6GHC6</li><li>P19904</li><li>Q96UG9</li><li>Q86ZF9</li><li>O00088</li><li>Q05650</li><li>Q4R7U3</li><li>O04867</li><li>Q9C2U9</li><li>Q09179</li><li>P46410</li><li>Q9HH09</li><li>P25821</li><li>Q9QY94</li><li>O58097</li><li>P10656</li><li>P77961</li><li>Q04831</li><li>Q9HU65</li><li>P94845</li><li>P13499</li><li>P15124</li><li>P0A039</li><li>Q874T6</li><li>Q96V52</li><li>Q06378</li><li>P21154</li><li>Q60182</li><li>Q6B4U7</li><li>Q6FMT6</li><li>P07804</li><li>P51121</li><li>P22248</li><li>P51120</li><li>Q86ZU6</li><li>Q6G9Q4</li><li>Q5HGC3</li><li>P10583</li><li>Q8CSR8</li><li>Q9UUN6</li><li>Q12613</li><li>Q9CLP2</li><li>Q9HNI2</li><li>P33035</li><li>P43794</li><li>Q05907</li><li>P99095</li><li>P23712</li><li>Q6C3E0</li><li>P0A9C7</li><li>P0A9C8</li><li>P00964</li><li>P28605</li><li>P45627</li><li>P0A9C5</li><li>P15623</li><li>P0A9C6</li><li>P43386</li><li>P09606</li><li>P23794</li><li>Q8J1R3</li><li>P04773</li><li>P60890</li><li>P32288</li><li>Q5HPN2</li><li>O59648</li><li>P28786</li><li>P20479</li>	Congenital systemic glutamine deficiency (CSGD) [MIM:610015]		2
P15157			<li>R->P at 15: in alpha-II</li><li>K->Q at 221: in alpha-II; dbSNP:rs1137382</li>							<li>P01939</li><li>Q08862</li>			2
P15169	1369		<li>G->D at 178: in carboxypeptidase N deficiency, MIM: 212070</li>								Carboxypeptidase N deficiency [MIM:212070]		2
P15172	4654		<li>E->K at 262: in a breast cancer sample; somatic mutation</li><li>A->V at 309: in a breast cancer sample; somatic mutation</li>										2
P15248	3578		<li>T->M at 117: in dbSNP:rs2069885</li>									rs2069885	2
P15259	5224		<li>E->A at 89: in myopathy, MIM: 261670</li><li>R->W at 90: in myopathy, MIM: 261670</li><li>G->D at 97: in myopathy, MIM: 261670</li>								Myopathy [MIM:261670]		2
P15260	3459		<li>V->I at 61: in dbSNP:rs17175322</li><li>C->Y at 77: in MSMD; fails to bind IFN-gamma, MIM: 209950</li><li>I->T at 87: in MSMD; impaired response to IFN-gamma, MIM: 209950</li><li>Missing  at 99-102: in MSMD; fails to bind IFN-gamma, MIM: 209950</li><li>H->P at 335: in dbSNP:rs17175350, MIM: 209950</li><li>L->P at 467: in dbSNP:rs1887415, MIM: 209950</li>							<li>O35735</li><li>P63309</li><li>Q25BC0</li><li>P07353</li><li>Q9TTB0</li><li>O57608</li><li>O77763</li><li>P46402</li><li>O57603</li><li>Q2PE75</li><li>Q866Y6</li><li>P79154</li><li>P28341</li><li>Q9TV67</li><li>P01579</li><li>Q865Y4</li><li>Q4ZH68</li><li>P17803</li><li>P30123</li><li>P42160</li><li>P42161</li><li>P42162</li><li>Q865W6</li><li>P63310</li><li>Q8MKF5</li><li>P63311</li><li>O35497</li><li>Q9QXX2</li><li>Q62574</li><li>O57571</li><li>Q7TSP4</li><li>Q9YGB9</li><li>Q647G2</li><li>Q865X1</li><li>P49708</li><li>P17773</li><li>O73915</li><li>Q1WM28</li><li>P01581</li><li>Q8SPW9</li><li>P01580</li><li>Q5CCK0</li><li>Q5I6S9</li><li>P28333</li>	Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]	<li>rs17175322</li><li>rs1887415</li><li>rs17175350</li>	2
P15309	55		<li>S->N at 15: in dbSNP:rs17850347</li><li>F->V at 124: in dbSNP:rs17856254</li><li>W->R at 226: in dbSNP:rs17856253</li><li>Y->H at 330: in dbSNP:rs17851392</li><li>V->A at 360: in dbSNP:rs17850198</li>									<li>rs17851392</li><li>rs17856254</li><li>rs17856253</li><li>rs17850198</li><li>rs17850347</li>	2
P15311	7430		<li>R->C at 180: in dbSNP:rs3103004</li><li>A->P at 494: in dbSNP:rs2230143</li><li>L->V at 532</li>									<li>rs3103004</li><li>rs2230143</li>	2
P15328	2348		<li>W->C at 160: in dbSNP:rs1801932</li>									rs1801932	2
P15336	1386		<li>D->H at 352: in a breast cancer sample; somatic mutation</li>										2
P15391	930		<li>L->V at 174: in dbSNP:rs2904880</li><li>R->H at 514: in dbSNP:rs34763945</li>									<li>rs34763945</li><li>rs2904880</li>	2
P15421	2996		<li>R->P at 78: in dbSNP:rs17018900</li>									rs17018900	2
P15502	2006		<li>S->G at 422: in dbSNP:rs2071307</li>									rs2071307	2
P15514	374		<li>D->V at 80</li><li>Y->C at 81</li>										2
P15538	1584		<li>C->Y at 10: in dbSNP:rs6405</li><li>P->S at 42: in AH4; non-classic, MIM: 202010</li><li>R->Q at 43: in dbSNP:rs4534, MIM: 202010</li><li>D->H at 63: in dbSNP:rs5282, MIM: 202010</li><li>N->H at 133: in AH4; non-classic, MIM: 202010</li><li>M->I at 160: in dbSNP:rs5287, MIM: 202010</li><li>K->R at 173: in dbSNP:rs4539, MIM: 202010</li><li>T->I at 248: in dbSNP:rs34620645, MIM: 202010</li><li>F->L at 257: in dbSNP:rs5288, MIM: 202010</li><li>S->N at 281: in dbSNP:rs5291, MIM: 202010</li><li>L->V at 293: in dbSNP:rs5292, MIM: 202010</li><li>T->M at 318: in AH4, MIM: 202010</li><li>T->M at 319: in AH4; non-classic, MIM: 202010</li><li>A->T at 348: in dbSNP:rs6407, MIM: 202010</li><li>R->Q at 374: in AH4, MIM: 202010</li><li>A->V at 386: in dbSNP:rs4541, MIM: 202010</li><li>R->H at 404: in dbSNP:rs4998896, MIM: 202010</li><li>Y->H at 439: in dbSNP:rs5294, MIM: 202010</li><li>R->H at 448: in AH4: in dbSNP rsrs28934586, MIM: 202010</li><li>F->C at 494, MIM: 202010</li>								Adrenal hyperplasia type 4 (AH4) [MIM:202010]	<li>rs4539</li><li>rs4998896</li><li>rs4534</li><li>rs6405</li><li>rs5294</li><li>rs5282</li><li>rs34620645</li><li>rs6407</li><li>rs28934586</li><li>rs5288</li><li>rs4541</li><li>rs5287</li><li>rs5291</li><li>rs5292</li>	2
P15559	1728		<li>R->W at 139: in dbSNP:rs1131341</li><li>P->S at 187: lack of activity; dbSNP:rs1800566</li><li>Q->H at 269: in dbSNP:rs34447156</li>									<li>rs34447156</li><li>rs1131341</li><li>rs1800566</li>	2
P15621			<li>G->A at 92: in dbSNP:rs11882046</li><li>T->A at 212: in dbSNP:rs11879168</li>									<li>rs11882046</li><li>rs11879168</li>	2
P15735	5261		<li>V->E at 106: in GSD9C, MIM: 172471</li><li>E->K at 157: in GSD9C, MIM: 172471</li><li>G->E at 189: in GSD9C, MIM: 172471</li><li>D->N at 215: in GSD9C, MIM: 172471</li><li>E->G at 247: in dbSNP:rs34006569, MIM: 172471</li><li>A->T at 317, MIM: 172471</li>								Glycogen storage disease type 9C (GSD9C) [MIM:172471]	rs34006569	2
P15812			<li>Q->R at 96</li><li>R->W at 154</li><li>L->P at 184</li>										2
P15814	3543		<li>P->L at 120: in dbSNP:rs1064425</li><li>P->L at 142: in autosomal recessive non-Bruton type agammaglobulinemia; dbSNP:rs1064422, MIM: 601495</li>								Autosomal recessive non-Bruton type agammaglobulinemia [MIM:601495]	<li>rs1064425</li><li>rs1064422</li>	2
P15848	411		<li>S->F at 65: in MPS6; intermediate form, MIM: 253200</li><li>Missing  at 86: in MPS6; severe form; low protein levels and activity, MIM: 253200</li><li>T->M at 92: in MPS6; mild form, MIM: 253200</li><li>R->Q at 95: in MPS6; mild/severe form, MIM: 253200</li><li>P->H at 116: in MPS6; severe form, MIM: 253200</li><li>C->R at 117: in MPS6; severe form, MIM: 253200</li><li>G->V at 137: in MPS6; intermediate form, MIM: 253200</li><li>M->I at 142: in MPS6, MIM: 253200</li><li>G->R at 144: in MPS6; severe form; severe reduction of activity, MIM: 253200</li><li>W->L at 146: in MPS6, MIM: 253200</li><li>W->R at 146: in MPS6, MIM: 253200</li><li>W->S at 146: in MPS6, MIM: 253200</li><li>R->W at 152: in MPS6; intermediate form, MIM: 253200</li><li>R->Q at 160: in MPS6; intermediate form, MIM: 253200</li><li>C->R at 192: in MPS6; mild form; severe reduction of activity, MIM: 253200</li><li>Y->C at 210: in MPS6; mild/intermediate, MIM: 253200</li><li>L->P at 236: in MPS6; mild form, MIM: 253200</li><li>Q->R at 239: in MPS6, MIM: 253200</li><li>G->R at 302: in MPS6; severe form, MIM: 253200</li><li>W->C at 312: in MPS6; severe form; low protein levels and activity, MIM: 253200</li><li>R->Q at 315: in MPS6; intermediate form, MIM: 253200</li><li>L->P at 321: in MPS6; intermediate form; severe reduction of activity, MIM: 253200</li><li>V->M at 358: in dbSNP:rs1065757, MIM: 253200</li><li>V->M at 376: in dbSNP:rs17220759, MIM: 253200</li><li>S->N at 384: in MPS6; dbSNP:rs25414, MIM: 253200</li><li>H->P at 393: in MPS6; mild/severe form, MIM: 253200</li><li>F->L at 399: in MPS6, MIM: 253200</li><li>C->Y at 405: in MPS6; mild form, MIM: 253200</li><li>R->G at 484: in MPS6, MIM: 253200</li><li>L->P at 498: in MPS6; mild/severe form, MIM: 253200</li><li>C->Y at 521: in MPS6; severe form; severe reduction of activity, MIM: 253200</li><li>P->R at 531: in MPS6; mild form, MIM: 253200</li>								Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	<li>rs25414</li><li>rs17220759</li><li>rs1065757</li>	2
P15863			<li>Q->H at 45: in a patient with neural tube defects, but not clearly linked to the disease</li><li>T->R at 345: in dbSNP:rs17861058</li><li>P->L at 359: in dbSNP:rs17861059</li><li>P->L at 410: in dbSNP:rs17861061</li>									<li>rs17861058</li><li>rs17861061</li><li>rs17861059</li>	2
P15882	1123		<li>L->F at 20: in DURS2; behaves as a dominant gain-of-function allele that increases CHN1 activity in vitro; appears to enhance membrane translocation and CHN1 activity by destabilizing the closed conformation of CHN1 protein in response to phorbol 12-myristate 13-acetate , MIM: 604356</li><li>I->M at 126: in DURS2; behaves as a dominant gain-of -function allele that increases CHN1 activity in vitro, MIM: 604356</li><li>Y->H at 143: in DURS2; behaves as a dominant gain-of-function allele that increases CHN1 activity in vitro; appears to enhance membrane translocation and CHN1 activity by destabilizing the closed conformation of CHN1 protein in response to phorbol 12-myristate 13-acetate , MIM: 604356</li><li>A->V at 223: in DURS2; behaves as a dominant gain-of-function allele that increases CHN1 activity in vitro; appears to enhance membrane translocation and CHN1 activity by destabilizing the closed conformation of CHN1 protein in response to phorbol 12-myristate 13-acetate , MIM: 604356</li><li>G->S at 228: in DURS2; behaves as a dominant gain-of-function allele that increases CHN1 activity in vitro, MIM: 604356</li><li>P->Q at 252: in DURS2; behaves as a dominant gain-of-function allele that increases CHN1 activity in vitro; appears to enhance membrane translocation and CHN1 activity by destabilizing the closed conformation of CHN1 protein in response to phorbol 12-myristate 13-acetate , MIM: 604356</li><li>E->K at 313: in DURS2; behaves as a dominant gain-of-function allele that increases CHN1 activity in vitro, MIM: 604356</li>					membrane	GO:0016020	<li>P15882</li><li>Q17QN0</li>	Duane retraction syndrome type 2 (DURS2) [MIM:604356]		2
P15884	6925		<li>M->I at 450: in dbSNP:rs11660217</li><li>R->Q at 576: in PTHS, MIM: 610954</li><li>R->W at 576: in PTHS, MIM: 610954</li>								Pitt-Hopkins syndrome (PTHS) [MIM:610954]	rs11660217	2
P15918	5896		<li>A->V at 156: in dbSNP:rs1801203</li><li>S->L at 169: in dbSNP:rs4151027</li><li>R->G at 244</li><li>R->H at 247: in dbSNP:rs4151029</li><li>R->H at 249: in dbSNP:rs3740955</li><li>D->E at 302: in dbSNP:rs4151030</li><li>R->W at 314: in CHIDG; reduced recombination activity, MIM: 233650</li><li>C->Y at 328: in OS, MIM: 603554</li><li>R->C at 396: in OS, MIM: 603554</li><li>R->H at 396: in OS, MIM: 603554</li><li>R->L at 396: in OS, MIM: 603554</li><li>S->P at 401: in OS, MIM: 603554</li><li>R->Q at 410: in OS/T, MIM: 603554</li><li>D->G at 429: in OS, MIM: 603554</li><li>V->M at 433: in OS/T, MIM: 603554</li><li>M->V at 435: in OS, MIM: 603554</li><li>A->V at 444: in OS/T, MIM: 603554</li><li>R->K at 449: in dbSNP:rs4151031, MIM: 603554</li><li>R->H at 474: in OS/T, MIM: 603554</li><li>R->W at 507: in OS/T, MIM: 233650</li><li>W->C at 522: in OS/T, MIM: 233650</li><li>P->S at 525: in dbSNP:rs4151032, MIM: 233650</li><li>R->S at 559: in OS, MIM: 603554</li><li>R->C at 561: in OS, MIM: 603554</li><li>R->H at 561: in OS, MIM: 603554</li><li>R->C at 624: in OS, MIM: 603554</li><li>R->H at 624: in T, MIM: 601457</li><li>E->G at 669: in OS, MIM: 603554</li><li>E->K at 722: in T: in dbSNP rsrs28933392, MIM: 601457</li><li>R->H at 737: in OS and CHIDG; reduced recombination activity when associated with Trp-507, MIM: 603554</li><li>H->L at 753: in OS/T, MIM: 603554</li><li>R->Q at 778: in CHIDG; reduced recombination activity, MIM: 233650</li><li>K->R at 820: in dbSNP:rs2227973, MIM: 233650</li><li>R->W at 841: in alpha/beta T-cell lymphopenia; with gamma/delta T-cell expansion severe cytomegalovirus infection and autoimmunity, MIM: 233650</li><li>N->I at 855: in immunodeficiency; severe combined, MIM: 233650</li><li>E->K at 880: in dbSNP:rs4151033, MIM: 233650</li><li>L->R at 885: in OS, MIM: 603554</li><li>D->N at 887: in dbSNP:rs4151034, MIM: 603554</li><li>Y->C at 912: in OS, MIM: 603554</li><li>R->Q at 975: in OS, MIM: 603554</li><li>R->W at 975: in CHIDG; reduced recombination activity, MIM: 233650</li><li>Q->P at 981: in alpha/beta T-cell lymphopenia; with gamma/delta T-cell expansion severe cytomegalovirus infection and autoimmunity, MIM: 233650</li>							<li>Q920J4</li><li>P19334</li><li>P07700</li><li>P55965</li>	<li>Severe combined immunodeficiency, B-cell-negative (T(-)B(-)NK(+)SCID) [MIM:601457]</li><li>Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]</li><li>Omenn syndrome (OS) [MIM:603554]</li>	<li>rs28933392</li><li>rs2227973</li><li>rs4151030</li><li>rs4151031</li><li>rs3740955</li><li>rs4151032</li><li>rs4151033</li><li>rs4151034</li><li>rs1801203</li><li>rs4151027</li><li>rs4151029</li>	2
P15924	1832		<li>N->K at 287: in SFWHS, MIM: 607655</li><li>S->R at 299: in ARVD8, MIM: 607450</li><li>I->F at 305: in dbSNP:rs17604693, MIM: 607450</li><li>R->K at 1255: in ARVD8, MIM: 607450</li><li>Y->C at 1512: in dbSNP:rs2076299, MIM: 607450</li><li>R->Q at 1738: in dbSNP:rs6929069, MIM: 607450</li><li>R->I at 1775: in ARVD8: in dbSNP rsrs34738426, MIM: 607450</li><li>R->C at 2366: in SFWHS; dbSNP:rs28931610, MIM: 607655</li><li>G->R at 2375: in a case of recessive arrhythmogenic right ventricular cardiomyopathy with skin abnormalities and woolly hair, MIM: 607655</li>								<li>Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655]</li><li>Familial arrhythmogenic right ventricular dysplasia 8 (ARVD8) [MIM:607450]</li>	<li>rs34738426</li><li>rs2076299</li><li>rs17604693</li><li>rs28931610</li><li>rs6929069</li>	2
P16066	4881		<li>A->V at 182: in dbSNP rsrs56019647</li><li>F->C at 270: in a breast pleomorphic lobular carcinoma sample; somatic mutation</li><li>V->M at 755: in dbSNP rsrs55837780</li><li>R->Q at 939: in dbSNP:rs35240348</li><li>E->K at 967: in dbSNP:rs35479618</li>									<li>rs35479618</li><li>rs55837780</li><li>rs35240348</li><li>rs56019647</li>	2
P16070	960		<li>R->P at 46: in In</li><li>T->M at 393: in dbSNP:rs11607491</li><li>R->K at 417: in dbSNP:rs9666607</li><li>T->I at 479: in dbSNP:rs1467558</li><li>D->H at 494: in dbSNP:rs12273397</li>									<li>rs1467558</li><li>rs12273397</li><li>rs11607491</li><li>rs9666607</li>	2
P16109			<li>G->R at 179: in dbSNP:rs3917718</li><li>V->M at 209: in dbSNP:rs6125</li><li>C->F at 230: in dbSNP:rs3917869</li><li>T->I at 274: in dbSNP:rs3917724</li><li>P->L at 301: in dbSNP:rs6124</li><li>S->N at 331: in dbSNP:rs6131</li><li>M->V at 365: in dbSNP:rs6134</li><li>S->L at 385: in dbSNP:rs3917742</li><li>S->F at 500: in dbSNP:rs6130</li><li>E->K at 542: in dbSNP:rs3917769</li><li>D->N at 603: in dbSNP:rs6127</li><li>S->A at 619: in dbSNP:rs2228672</li><li>G->V at 631: in dbSNP:rs3917812</li><li>L->V at 640: associated with susceptibility to ischemic stroke; dbSNP:rs6133</li><li>T->N at 661: in dbSNP:rs3917814</li><li>N->S at 673: in dbSNP:rs3917815</li><li>T->P at 756: reduced frequency in patients with myocardial infarction; dbSNP:rs6136</li>									<li>rs3917718</li><li>rs3917769</li><li>rs3917742</li><li>rs6131</li><li>rs6130</li><li>rs3917815</li><li>rs6124</li><li>rs3917814</li><li>rs6125</li><li>rs6134</li><li>rs3917812</li><li>rs6127</li><li>rs3917869</li><li>rs3917724</li><li>rs2228672</li>	2
P16144	3691		<li>C->R at 38: in EB-PA; mild form, MIM: 226730</li><li>C->Y at 61: in EB-PA; lethal form, MIM: 226730</li><li>R->H at 98, MIM: 226730</li><li>D->Y at 131: in EB-PA; lethal form, MIM: 226730</li><li>L->P at 156: in EB-PA; mild form, MIM: 226730</li><li>C->G at 245: in EB-PA; lethal form, MIM: 226730</li><li>R->C at 252: in EB-PA; mild form, MIM: 226730</li><li>G->D at 273: in EB-PA; lethal form, MIM: 226730</li><li>R->C at 283: in EB-PA, MIM: 226730</li><li>V->D at 325: in EB-PA, MIM: 226730</li><li>L->P at 336: in EB-PA; mild form, MIM: 226730</li><li>Q->H at 478: in dbSNP:rs8079267, MIM: 226730</li><li>C->R at 562: in EB-PA; mild form, MIM: 226730</li><li>R->L at 844, MIM: 226730</li><li>G->D at 931: in GABEB, MIM: 226650</li><li>H->Q at 1216, MIM: 226650</li><li>R->H at 1225: in EB-PA; mild form, MIM: 226730</li><li>R->W at 1281: in EB-PA; mild form, MIM: 226730</li><li>P->L at 1779: in dbSNP:rs871443, MIM: 226730</li>								<li>Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]</li><li>Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]</li>	<li>rs8079267</li><li>rs871443</li>	2
P16150	6693		<li>T->I at 22: in dbSNP:rs2229653</li><li>T->A at 93: in dbSNP:rs2229654</li>									<li>rs2229654</li><li>rs2229653</li>	2
P16152	873		<li>P->S at 131: in dbSNP rsrs41557318</li>									rs41557318	2
P16188			<li>H->Q at 21: in allele A*3002, allele A*3004 and allele A*3008</li><li>S->Y at 33: in allele A*3008</li><li>T->A at 55: in allele A*3006</li><li>R->G at 80: in allele A*3003</li><li>Q->E at 86: in allele A*3007</li><li>RN->GK at 89-90: in allele A*3007</li><li>Q->H at 94: in allele A*3002, allele A*3003, allele A*3004, allele A*3006 and allele A*3007</li><li>VD->EN at 100-101: in allele A*3002, allele A*3003, allele A*3004, allele A*3006 and allele A*3007</li><li>RW->HV at 175-176: in allele A*3004 and allele A*3006</li><li>W->R at 176: in allele A*3002, allele A*3003 and allele A*3007</li><li>L->W at 180: in allele A*3004 and allele A*3006</li>										2
P16189			<li>N->K at 90: in allele A*3102</li><li>A->D at 114: in allele A*3103</li><li>M->I at 121: in allele A*3103 and allele A*3104</li><li>Q->R at 138: in allele A*3103, allele A*3104 and allele A*3106</li><li>EW->DG at 190-191: in allele A*3105</li>										2
P16190			<li>R->S at 41: in allele A*3302</li><li>H->Y at 195: in allele A*3302 and allele A*3303</li><li>AV->PI at 217-218: in allele A*3302</li><li>M->V at 358: in allele A*3302</li>										2
P16219	35		<li>R->W at 46: in SCAD deficiency, MIM: 201470</li><li>G->S at 90: in SCAD deficiency; no detectable activity, MIM: 201470</li><li>G->C at 92: in SCAD deficiency, MIM: 201470</li><li>Missing  at 104: in SCAD deficiency; no detectable activity, MIM: 201470</li><li>R->C at 107: in SCAD deficiency, MIM: 201470</li><li>R->W at 171: 69% of wild-type activity; confers susceptibility to ethylmalonicaciduria; dbSNP:rs1800556, MIM: 201470</li><li>W->R at 177: in SCAD deficiency: in dbSNP rsrs57443665, MIM: 201470</li><li>A->V at 192: in SCAD deficiency; no detectable activity: in dbSNP rsrs28940874, MIM: 201470</li><li>G->S at 209: 86% of wild-type activity; confers susceptibility to ethylmalonicaciduria; dbSNP:rs1799958, MIM: 201470</li><li>R->W at 325: in SCAD deficiency; no detectable activity, MIM: 201470</li><li>S->L at 353: in SCAD deficiency; no detectable activity: in dbSNP rsrs28941773, MIM: 201470</li><li>R->W at 380: in SCAD deficiency; no detectable activity: in dbSNP rsrs28940875, MIM: 201470</li><li>R->C at 383: in SCAD deficiency: in dbSNP rsrs28940872, MIM: 201470</li><li>R->H at 383: in dbSNP:rs35233375, MIM: 201470</li>							<li>Q06319</li><li>P16219</li><li>P52042</li><li>P15651</li><li>P79273</li><li>Q07417</li>	Short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency) [MIM:201470]	<li>rs28940872</li><li>rs1799958</li><li>rs57443665</li><li>rs28940874</li><li>rs35233375</li><li>rs1800556</li><li>rs28940875</li><li>rs28941773</li>	2
P16234	5156		<li>G->D at 79: in dbSNP:rs36035373</li><li>G->D at 426: in dbSNP rsrs55865821</li><li>S->P at 478: in dbSNP:rs35597368</li><li>R->C at 764: in dbSNP rsrs34392012</li><li>G->R at 829: in a glioblastoma multiforme sample; somatic mutation</li><li>E->K at 996: in a metastatic melanoma sample; somatic mutation</li><li>D->N at 1071: in a lung neuroendocrine carcinoma sample; somatic mutation</li>									<li>rs55865821</li><li>rs34392012</li><li>rs36035373</li><li>rs35597368</li>	2
P16278	2720		<li>P->L at 10: in dbSNP:rs7637099</li><li>R->C at 49: in GM1G1, MIM: 230500</li><li>I->T at 51: in GM1G3, MIM: 230650</li><li>R->C at 59: in GM1G1; protein enzymatically inactive; severe mutation, MIM: 230500</li><li>R->H at 59: in GM1G1; with cardiac involvement in some patients; protein enzymatically inactive; severe mutation, MIM: 230500</li><li>R->W at 68: in GM1G2; no enzyme activity, MIM: 230600</li><li>T->M at 82: in GM1G3; mild phenotype, MIM: 230650</li><li>Y->H at 83: in MPS4B; 2-5% of activity, MIM: 253010</li><li>R->W at 109: in dbSNP:rs35289681, MIM: 253010</li><li>R->S at 121: in GM1G1, MIM: 230500</li><li>G->R at 123: in GM1G1: in dbSNP rsrs28934274, MIM: 230500</li><li>G->V at 134: in GM1G1, MIM: 230500</li><li>Missing  at 147: in GM1G1, MIM: 230500</li><li>R->S at 148: in GM1G1, MIM: 230500</li><li>D->Y at 151: in GM1G1; complete lack of protein; no enzymatic activity, MIM: 230500</li><li>L->R at 155: in GM1G3, MIM: 230650</li><li>L->S at 162: in GM1G1, MIM: 230500</li><li>R->C at 201: in GM1G2; residual enzyme activity; activity severely reduced in transfection with the F-436 polymorphism, MIM: 230600</li><li>R->H at 201: in GM1G2; also in GM1G1 and a patient with a slowly progressive GM1-gangliosidosis form, MIM: 230600</li><li>R->C at 208: in GM1G1, MIM: 230500</li><li>D->Y at 214: in GM1G3, MIM: 230650</li><li>V->A at 216: in GM1G1, MIM: 230500</li><li>T->M at 239: in GM1G1; protein enzymatically inactive; severe mutation; causes a rapid degradation of the protein precursor, MIM: 230500</li><li>V->M at 240: in GM1G1, MIM: 230500</li><li>P->S at 263: in GM1G3, MIM: 230650</li><li>N->S at 266: in GM1G3, MIM: 230650</li><li>Y->D at 270: in GM1G3; originally classified as Morquio syndrome, MIM: 230650</li><li>G->D at 272: in GM1G1, MIM: 230500</li><li>W->L at 273: in MPS4B; 8% of activity, MIM: 253010</li><li>H->Y at 281: in GM1G1 and GM1G3, MIM: 230650</li><li>Y->C at 316: in GM1G1, MIM: 230500</li><li>D->N at 332: in GM1G1, MIM: 230500</li><li>Missing  at 377-381: in GM1G1, MIM: 230500</li><li>Q->P at 408: in MPS4B, MIM: 253010</li><li>S->L at 434: in GM1-gangliosidosis; unclassified clinical type, MIM: 253010</li><li>L->F at 436: seems to have a modulating action in the expression of the severity of other mutations: in dbSNP rsrs34421970, MIM: 253010</li><li>G->E at 438: in MPS4B; mild form; 5.7% of activity, MIM: 253010</li><li>R->Q at 457: in GM1G3: in dbSNP rsrs28934886, MIM: 230650</li><li>R->C at 482: in MPS4B; loss of activity, MIM: 253010</li><li>R->H at 482: in MPS4B and GM1G1; loss of activity, MIM: 253010</li><li>N->K at 484: in MPS4B; mild form; 1.9% of activity, MIM: 253010</li><li>D->N at 491: in GM1G1, MIM: 230500</li><li>D->Y at 491: in GM1G1, MIM: 230500</li><li>G->C at 494: in GM1G1, MIM: 230500</li><li>T->A at 500: in MPS4B; mild form; 2.1% of activity, MIM: 253010</li><li>W->C at 509: in MPS4B; also in a patient with a slowly progressive form of GM1-gangisidosis; loss of activity, MIM: 253010</li><li>R->C at 521: in a GM1-gangliosidosis patient; mild phenotype; reduction of activity; could be a polymorphism; dbSNP:rs4302331, MIM: 253010</li><li>S->G at 532, MIM: 253010</li><li>P->L at 549: in GM1G1, MIM: 230500</li><li>G->E at 554: in GM1-gangliosidosis; unclassified clinical type, MIM: 230500</li><li>K->R at 578: in GM1G1, MIM: 230500</li><li>G->D at 579: in GM1G1 and GM1G2; protein enzymatically inactive; severe mutation, MIM: 230600</li><li>R->C at 590: in GM1G1, MIM: 230500</li><li>R->H at 590: in GM1G2, MIM: 230600</li><li>Y->C at 591: in GM1G1; with cardiac involvement in some patients; protein enzymatically inactive; severe mutation; causes a rapid degradation of the protein precursor, MIM: 230500</li><li>Y->N at 591: in GM1G1; with cardiac involvement in some patients; protein enzymatically inactive; severe mutation; causes a rapid degradation of the protein precursor, MIM: 230500</li><li>R->W at 595: reduction of activity, MIM: 230500</li><li>E->G at 632: in GM1G2, MIM: 230600</li>							P48648	<li>GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]</li><li>GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]</li><li>Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]</li><li>GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]</li>	<li>rs28934886</li><li>rs4302331</li><li>rs28934274</li><li>rs35289681</li><li>rs7637099</li><li>rs34421970</li>	2
P16284	5175		<li>L->V at 125: in dbSNP:rs668</li>									rs668	2
P16333	4690		<li>A->V at 180: in dbSNP:rs13320485</li>									rs13320485	2
P16383	6936		<li>P->A at 32: in dbSNP:rs7559767</li><li>N->S at 249: in dbSNP:rs7560262</li><li>Q->E at 316: in dbSNP:rs6742946</li><li>T->A at 594: in dbSNP:rs6722682</li><li>E->D at 724: in dbSNP:rs17690300</li>									<li>rs6722682</li><li>rs6742946</li><li>rs17690300</li><li>rs7560262</li><li>rs7559767</li>	2
P16401	3009		<li>G->D at 86: in a colorectal cancer sample; somatic mutation</li><li>K->R at 144: in dbSNP:rs11970638</li><li>A->T at 211: in dbSNP:rs34144478</li>									<li>rs34144478</li><li>rs11970638</li>	2
P16402	3007		<li>E->K at 75: in dbSNP:rs2050949</li>									rs2050949	2
P16403	3006		<li>A->V at 18: in dbSNP:rs2230653</li><li>S->A at 113: in dbSNP:rs34810376</li><li>G->A at 124: in dbSNP:rs12111009</li>									<li>rs12111009</li><li>rs2230653</li><li>rs34810376</li>	2
P16410	1493		<li>T->A at 17: increased risk for Graves disease, insulin-dependent diabetes mellitus, thyroid-associated orbitopathy, systemic lupus erythematosus and susceptibility to HBV infection; dbSNP:rs231775</li>							<li>P67974</li><li>P67973</li><li>P67971</li><li>P69048</li><li>P01330</li><li>P0C236</li><li>P69047</li><li>P07453</li><li>P42633</li><li>P01324</li><li>P68243</li><li>P01320</li><li>P68992</li><li>P81423</li><li>P01328</li><li>Q9TQY7</li><li>P29243</li><li>P01340</li><li>P68990</li><li>P67969</li><li>P68991</li><li>P67968</li><li>P68245</li><li>P81881</li><li>P69046</li><li>P01336</li><li>P68988</li><li>P68987</li><li>P01334</li><li>P01316</li><li>P13190</li><li>P01331</li><li>P01314</li><li>P01319</li><li>P09477</li><li>P09476</li><li>P12703</li><li>P29335</li><li>P12704</li><li>P18109</li><li>P68989</li><li>P12708</li>		rs231775	2
P16415	55552		<li>R->H at 566: in dbSNP:rs3745663</li>									rs3745663	2
P16422	4072		<li>M->T at 115: in dbSNP:rs1126497</li>									rs1126497	2
P16435	5447		<li>Y->D at 178: in AHV; complete loss of activity, MIM: 201750</li><li>P->L at 225, MIM: 201750</li><li>D->N at 252, MIM: 201750</li><li>A->P at 284: in AHV; significant reduction of activity, MIM: 201750</li><li>R->H at 454: in AHV; significant reduction of activity, MIM: 201750</li><li>V->E at 489: in AHV; significant reduction of activity, MIM: 201750</li><li>A->V at 500: in dbSNP:rs1057868, MIM: 201750</li><li>R->Q at 551, MIM: 201750</li><li>C->Y at 566: in IDS and AHV; significant reduction of activity, MIM: 201750</li><li>Y->C at 575: in AHV; with abnormal genitalia, MIM: 201750</li><li>V->F at 605: in IDS; significant reduction of activity, MIM: 201750</li><li>LKQDREHLW->R at 609-617: in AHV, MIM: 201750</li>							P22304	<li>Isolated disordered steroidogenesis (IDS) [MIM:201750]</li><li>Adrenal hyperplasia variant type (AHV) [MIM:201750]</li>	rs1057868	2
P16452	2038		<li>A->T at 112: in HS; Nippon/Fukuoka, MIM: 177070</li><li>R->Q at 280: in HS; Tozeur, MIM: 177070</li>								Hereditary spherocytosis (HS) [MIM:177070]		2
P16471	5618		<li>I->V at 100: in dbSNP:rs2228482</li>									rs2228482	2
P16473			<li>D->H at 36: in a patient with Graves disease</li><li>C->S at 41: in CHNG1, MIM: 275200</li><li>P->T at 52: does not contribute to the genetic susceptibility to Graves disease; dbSNP:rs2234919, MIM: 275200</li><li>R->Q at 109: in CHNG1, MIM: 275200</li><li>P->A at 162: in CHNG1, MIM: 275200</li><li>I->N at 167: in CHNG1, MIM: 275200</li><li>K->R at 183: in FGH; enhances receptor response to chorionic gonadotropin, MIM: 603373</li><li>F->I at 197: in papillary cancer, MIM: 603373</li><li>D->E at 219: in papillary cancer, MIM: 603373</li><li>L->P at 252: in CHNG1; displays a low expression at the cell surface and a reduced response to bovine TSH in terms of cAMP production, MIM: 275200</li><li>S->I at 281: in hyperthyroidism; congenital; due to a toxic adenoma, MIM: 603372</li><li>S->N at 281: in non-autoimmune hyperthyroidism and TTNs; associated with hyperfunctioning thyroid adenomas and nonadenomatous nodules; gain of function, MIM: 609152</li><li>S->T at 281: in hyperthyroidism; associated with hyperfunctioning thyroid adenomas, MIM: 603372</li><li>R->C at 310: in CHNG1, MIM: 275200</li><li>C->W at 390: in CHNG1; persistent hypothyroidism and defective thyroid development; habolishes high affinity hormone binding, MIM: 275200</li><li>D->N at 410: in CHNG1; lack of adenylate cyclase activation, MIM: 275200</li><li>S->I at 425: in TTNs; 8 to 9 times higher levels of basal cAMP than wild-type TSHR and similar response to maximal TSH stimulation, MIM: 275200</li><li>G->S at 431: in non-autoimmune hyperthyroidism; autosomal dominant; gain of function; constitutive activation of the G, MIM: 609152</li><li>R->H at 450: in CHNG1, MIM: 275200</li><li>M->T at 453: in non-autoimmune hyperthyroidism and TTNs; sporadic congenital; associated with hyperfunctioning thyroid adenomas, MIM: 609152</li><li>M->V at 463: in hyperthyroidism; autosomal dominant non-autoimmune; gain of function, MIM: 603372</li><li>L->P at 467: in CHNG1, MIM: 275200</li><li>T->I at 477: in CHNG1; severe hypothyroidism, MIM: 275200</li><li>I->F at 486: in hyperthyroidism and TTNs; associated with hyperfunctioning thyroid adenomas; also in hyperfunctioning follicular carcinoma, MIM: 603372</li><li>I->M at 486: in hyperthyroidism; associated with hyperfunctioning thyroid adenomas, MIM: 603372</li><li>G->S at 498: in CHNG1, MIM: 275200</li><li>S->N at 505: in hyperthyroidism and TTNs; sporadic congenital, MIM: 603372</li><li>S->R at 505: in hyperthyroidism; autosomal dominant non-autoimmune; gain of function, MIM: 603372</li><li>V->A at 509: in non-autoimmune hyperthyroidism; autosomal dominant; gain of function, MIM: 609152</li><li>L->Q at 512: in TTNs; 5 times higher levels of basal cAMP than wild-type TSHR and slightly less response to maximal TSH stimulation, MIM: 609152</li><li>L->R at 512: in hyperthyroidism and TTNs; associated with autonomously functioning thyroid nodules; 3.3-fold increase in basal cAMP level, MIM: 603372</li><li>F->L at 525: in CHNG1; impairs adenylate cyclase activation, MIM: 275200</li><li>R->H at 528, MIM: 275200</li><li>A->T at 553: in CHNG1; severe hypothyroidism, MIM: 275200</li><li>I->T at 568: in hyperthyroidism and TTNs; sporadic congenital; also in hyperfunctioning thyroid adenomas, MIM: 603372</li><li>A->N at 593: in toxic thyroid adenoma; requires 2 nucleotide substitutions; somatic mutation; N-593 and N-593/E-727 constitutively activate the cAMP cascade; double mutant's specific constitutive activity is 2.3-fold lower than the N-593 mutant, MIM: 603372</li><li>V->F at 597: in non-autoimmune hyperthyroidism; 11-fold increase in specific constitutive activity associated with reduction in receptor protein expression, MIM: 609152</li><li>V->L at 597: in hyperthyroidism; congenital with severe thyrotoxicosis, MIM: 603372</li><li>C->R at 600: in CHNG1, MIM: 275200</li><li>I->M at 606, MIM: 275200</li><li>D->G at 619: in hyperthyroidism and TTNs; associated with hyperfunctioning thyroid adenomas, MIM: 603372</li><li>A->I at 623: in hyperthyroidism; associated with hyperfunctioning thyroid adenomas; gain of function; requires 2 nucleotide substitutions, MIM: 603372</li><li>A->V at 623: in hyperthyroidism and TTNs; associated with hyperfunctioning thyroid adenomas; gain of function, MIM: 603372</li><li>L->F at 629: in non-autoimmune hyperthyroidism; autosomal dominant; also in hyperfunctioning thyroid adenomas and nonadenomatous nodules, MIM: 609152</li><li>I->L at 630: in hyperthyroidism; associated with hyperfunctioning thyroid adenomas, MIM: 603372</li><li>F->C at 631: in hyperthyroidism; associated with hyperfunctioning thyroid adenomas, MIM: 603372</li><li>F->L at 631: in non-autoimmune hyperthyroidism and TTNs; congenital; also in hyperfunctioning thyroid adenomas; gain of function, MIM: 609152</li><li>T->A at 632: in hyperthyroidism and TTNs; associated with nonadenomatous hyperfunctioning nodules; gain of function, MIM: 603372</li><li>T->I at 632: in non-autoimmune hyperthyroidism and TTNs; autosomal dominant; also in a sporadic congenital case and in hyperfunctioning thyroid adenomas and nonadenomatous nodules; gain of function, MIM: 609152</li><li>D->A at 633: in hyperthyroidism; associated with hyperfunctioning thyroid adenomas, MIM: 603372</li><li>D->E at 633: in hyperthyroidism and TTNs; associated with hyperfunctioning thyroid adenomas and nonadenomatous nodules, MIM: 603372</li><li>D->H at 633: in hyperthyroidism and TTNs; associated with hyperfunctioning thyroid adenomas; also in hyperfunctioning insular carcinoma; with severe thyrotoxicosis; gain of function, MIM: 603372</li><li>D->Y at 633: in hyperthyroidism and TTNs; associated with hyperfunctioning thyroid adenomas, MIM: 603372</li><li>P->A at 639: in TTNs, MIM: 603372</li><li>P->S at 639: in non-autoimmune hyperthyroidism; autosomal dominant; gain of function, MIM: 609152</li><li>A->V at 647: in hyperthyroidism; associated with nonadenomatous hyperfunctioning nodules, MIM: 603372</li><li>N->Y at 650: in hyperthyroidism; autosomal dominant non-autoimmune; gain of function, MIM: 603372</li><li>V->F at 656: in TTNs, MIM: 603372</li><li>Missing  at 658-661: in hyperthyroidism; associated with hyperfunctioning thyroid adenomas, MIM: 603372</li><li>N->S at 670: in hyperthyroidism; autosomal dominant non-autoimmune; gain of function, MIM: 603372</li><li>C->Y at 672: in non-autoimmune hyperthyroidism; autosomal dominant; gain of function, MIM: 609152</li><li>L->V at 677: in thyroid carcinoma; with thyrotoxicosis; gain of function, MIM: 609152</li><li>A->G at 703, MIM: 609152</li><li>N->D at 715: in papillary cancer, MIM: 609152</li><li>Q->E at 720, MIM: 609152</li><li>K->M at 723: in papillary cancer, MIM: 609152</li><li>D->E at 727: may be a predisposing factor in toxic multinodular goiter pathogenesis; activation of the cAMP cascade does not differ from the wild-type; dbSNP:rs1991517, MIM: 609152</li>	<li>pathogenesis</li><li>development</li>	<li>GO:0009405</li><li>GO:0007275</li>	hormone binding	GO:0042562	cell surface	GO:0009928,GO:0009986	<li>P00936</li><li>P23466</li><li>P30528</li><li>P11030</li><li>P40363</li><li>Q59685</li><li>P56495</li><li>Q9WXC3</li><li>Q8WZ42</li><li>P0A1A7</li><li>Q05766</li><li>P0A1A8</li><li>P14763</li><li>Q8SPP9</li><li>P40134</li><li>Q9GJT2</li><li>P40135</li><li>P40130</li><li>P14605</li><li>Q59119</li><li>P10768</li><li>Q9R0P3</li><li>P43524</li><li>Q9BGN4</li><li>P08678</li><li>P27580</li><li>P40127</li><li>Q27987</li><li>Q8XAP1</li><li>Q8FBP0</li><li>P0A4Y1</li><li>P0A4Y0</li><li>Q01513</li><li>P59739</li><li>P16473</li><li>P49606</li><li>Q01631</li>	<li>Hyperthyroidism [MIM:603372]</li><li>Familial gestational hyperthyroidism (FGH) [MIM:603373]</li><li>Non-autoimmune hyperthyroidism [MIM:609152]</li><li>Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]</li>		2
P16499	5145		<li>R->H at 102: in ARRP, MIM: 268000</li><li>R->S at 102: in ARRP, MIM: 268000</li><li>A->T at 145: in dbSNP:rs35431421, MIM: 268000</li><li>N->S at 216: in dbSNP:rs10057110, MIM: 268000</li><li>V->A at 277, MIM: 268000</li><li>P->L at 293, MIM: 268000</li><li>S->R at 344: in ARRP, MIM: 268000</li><li>V->M at 391, MIM: 268000</li><li>Q->H at 492: in dbSNP:rs17711594, MIM: 268000</li><li>Q->K at 569: in ARRP, MIM: 268000</li><li>S->P at 573: in ARRP, MIM: 268000</li><li>K->Q at 827, MIM: 268000</li><li>G->V at 850, MIM: 268000</li>								Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]	<li>rs35431421</li><li>rs10057110</li><li>rs17711594</li>	2
P16519	5126		<li>D->N at 424: in a colorectal cancer sample; somatic mutation</li>										2
P16520	2784		<li>V->M at 40: in dbSNP:rs45569331</li><li>D->N at 76: in dbSNP:rs2234756</li><li>V->M at 81: in dbSNP:rs45616032</li><li>G->S at 272: in dbSNP:rs5442</li><li>L->F at 280: in dbSNP:rs28395776</li><li>G->E at 324: in dbSNP:rs28395775</li><li>W->L at 339: in dbSNP:rs5444</li>									<li>rs28395775</li><li>rs45569331</li><li>rs2234756</li><li>rs5444</li><li>rs28395776</li><li>rs5442</li><li>rs45616032</li>	2
P16562	7180		<li>N->S at 131: in dbSNP:rs34457011</li>									rs34457011	2
P16581	6401		<li>A->S at 21: in dbSNP:rs3917407</li><li>M->I at 31: in dbSNP:rs3917408</li><li>C->W at 130: in dbSNP:rs5360</li><li>S->R at 149: polymorphism associated with coronary artery disease; dbSNP:rs5361</li><li>Q->P at 257: in dbSNP:rs3917422</li><li>E->K at 295: in dbSNP:rs5364</li><li>E->Q at 421: in dbSNP:rs5366</li><li>H->Y at 468: in dbSNP:rs5368</li><li>P->S at 550: in dbSNP:rs3917429</li><li>L->F at 575: in dbSNP:rs5355</li>									<li>rs3917429</li><li>rs5355</li><li>rs5368</li><li>rs5364</li><li>rs3917422</li><li>rs5366</li><li>rs5360</li><li>rs3917407</li><li>rs3917408</li><li>rs5361</li>	2
P16591	2241		<li>V->F at 128: in dbSNP:rs35150210</li><li>E->Q at 404: in an ovarian Endometrioid carcinoma sample; somatic mutation</li><li>M->V at 412: in dbSNP:rs33940843</li><li>L->V at 439: in dbSNP:rs34499946</li><li>A->P at 443: in dbSNP rsrs34259824</li><li>W->C at 460: in a lung small cell carcinoma sample; somatic mutation</li><li>I->T at 507: in dbSNP:rs34204308</li><li>E->Q at 813: in dbSNP rsrs56097357</li>									<li>rs33940843</li><li>rs34259824</li><li>rs56097357</li><li>rs34499946</li><li>rs35150210</li><li>rs34204308</li>	2
P16615	488		<li>G->E at 23: in DD: in dbSNP rsrs28929478, MIM: 124200</li><li>N->T at 39: in DD, MIM: 124200</li><li>K->KMFLTGK at 47: in DD, MIM: 124200</li><li>L->S at 65: in DD; severe form, MIM: 124200</li><li>R->Q at 131: in DD, MIM: 124200</li><li>P->L at 160: in DD, MIM: 124200</li><li>S->P at 186: in DD, MIM: 124200</li><li>G->D at 211: in DD; severe form, MIM: 124200</li><li>V->M at 223: in DD, MIM: 124200</li><li>C->F at 268: in DD; haemorrhagic lesions, MIM: 124200</li><li>G->V at 310: in DD, MIM: 124200</li><li>C->R at 318: in DD; severe form, MIM: 124200</li><li>I->T at 348: in DD, MIM: 124200</li><li>T->K at 357: in DD, MIM: 124200</li><li>E->G at 412: in DD, MIM: 124200</li><li>S->F at 495: in DD, MIM: 124200</li><li>C->R at 560: in DD; neuropsychiatric phenotype, MIM: 124200</li><li>P->L at 602: in AKV; loss of activity, MIM: 101900</li><li>F->S at 675: in DD; multiple neuropsychiatric features, MIM: 124200</li><li>K->E at 683: in DD; depression, MIM: 124200</li><li>D->N at 702: in DD; moderate form, MIM: 124200</li><li>A->D at 745: in DD; moderate form, MIM: 124200</li><li>G->R at 749: in DD, MIM: 124200</li><li>Missing  at 754: in DD, MIM: 124200</li><li>S->L at 765: in DD, MIM: 124200</li><li>N->S at 767: in DD; haemorrhagic lesions and neuropsychiatric phenotype, MIM: 124200</li><li>G->R at 769: in DD, MIM: 124200</li><li>A->T at 803: in DD; mild/moderate form, MIM: 124200</li><li>A->P at 838: in DD; severe form; petit mal epilepsy, MIM: 124200</li><li>V->F at 843: in DD; depression, MIM: 124200</li><li>C->G at 875: in DD; retinitis pigmentosa, MIM: 124200</li><li>S->Y at 920: in DD; mild/moderate/severe form; one patient with epilepsy, MIM: 124200</li><li>H->R at 943: in DD; learning difficulties, MIM: 124200</li><li>P->R at 975: in DD, MIM: 124200</li>	learning	GO:0007612						<li>Darier disease (DD) [MIM:124200]</li><li>Acrokeratosis verruciformis (AKV) [MIM:101900]</li>	rs28929478	2
P16662	7364		<li>H->Y at 268: in allele UGT2B7*2; dbSNP:rs7439366</li>							P16662		rs7439366	2
P16671	948		<li>P->S at 90: in platelet glycoprotein IV deficiency; type I; degradation in the cytoplasm due to defects in maturation; dbSNP:rs3765187, MIM: 608404</li><li>E->K at 123: in individuals from a malaria endemic area in West Africa, MIM: 608404</li><li>S->L at 127, MIM: 608404</li><li>V->F at 154: in dbSNP:rs5957, MIM: 608404</li><li>T->A at 174: in individuals from a malaria endemic area in West Africa, MIM: 608404</li><li>G->GN at 232: in individuals from a malaria endemic area in West Africa, MIM: 608404</li><li>F->L at 254: in platelet glycoprotein IV deficiency; type I, MIM: 608404</li><li>I->T at 271: in individuals from a malaria endemic area in West Africa, MIM: 608404</li><li>I->L at 413: in platelet glycoprotein IV deficiency; type I, MIM: 608404</li>					cytoplasm	GO:0005737	<li>Q07969</li><li>P16671</li><li>P26201</li><li>Q08857</li><li>P70110</li>	Platelet glycoprotein IV deficiency [MIM:608404]	<li>rs3765187</li><li>rs5957</li>	2
P16860	4879		<li>R->L at 25: in dbSNP:rs5227</li><li>R->H at 47: in dbSNP:rs5229</li><li>M->L at 93: in dbSNP:rs5230</li>									<li>rs5227</li><li>rs5229</li><li>rs5230</li>	2
P16870	1363		<li>W->R at 235: in dbSNP:rs34516004</li><li>R->Q at 297: in a colorectal cancer sample; somatic mutation</li>									rs34516004	2
P16871	3575		<li>T->I at 66: in T: in dbSNP rsrs1494558, MIM: 608971</li><li>E->D at 113: in dbSNP:rs11567735, MIM: 608971</li><li>P->S at 132: in T, MIM: 608971</li><li>I->V at 138: in T: in dbSNP rsrs1494555, MIM: 608971</li><li>T->I at 244: associated with MS; dbSNP:rs6897932, MIM: 608971</li><li>I->V at 356: in dbSNP:rs3194051, MIM: 608971</li><li>T->M at 414: in dbSNP:rs2229232, MIM: 608971</li>								Autosomal recessive severe combined immunodeficiency T-cell-negative/B-cell-positive/NK cell-positive (T(-)/B(+)/NK(+) SCID) [MIM:608971]	<li>rs11567735</li><li>rs6897932</li><li>rs1494558</li><li>rs3194051</li><li>rs1494555</li><li>rs2229232</li>	2
P16885	5336		<li>H->R at 244: in dbSNP:rs11548656</li><li>R->W at 268: in dbSNP:rs17537869</li><li>T->A at 541: in dbSNP:rs11548657</li><li>D->Y at 883: in dbSNP:rs17856213</li>									<li>rs17537869</li><li>rs11548657</li><li>rs17856213</li><li>rs11548656</li>	2
P16989	8531		<li>T->A at 75: in dbSNP:rs1126501</li>									rs1126501	2
P17020	7564		<li>E->K at 105: in dbSNP:rs3735784</li><li>R->H at 227: in dbSNP:rs3735786</li>									<li>rs3735784</li><li>rs3735786</li>	2
P17022	7566		<li>Q->R at 210: in dbSNP:rs17857095</li><li>M->I at 240: in dbSNP:rs17853545</li>									<li>rs17853545</li><li>rs17857095</li>	2
P17026	7570		<li>S->G at 65: in dbSNP:rs3740093</li><li>H->L at 129: in a breast cancer sample; somatic mutation</li>									rs3740093	2
P17027	7571		<li>S->G at 28: in dbSNP:rs2070832</li>									rs2070832	2
P17028	7572		<li>N->S at 220: in dbSNP:rs2032729</li><li>G->W at 331: in dbSNP:rs3568</li>									<li>rs3568</li><li>rs2032729</li>	2
P17029	7586		<li>V->A at 26: in dbSNP:rs17851996</li>									rs17851996	2
P17030	219749		<li>E->K at 21: in a breast cancer sample; somatic mutation</li><li>D->G at 81: in a breast cancer sample; somatic mutation</li><li>N->K at 453: in dbSNP:rs1208606</li>									rs1208606	2
P17032	7587		<li>D->N at 105: in dbSNP:rs2021319</li>									rs2021319	2
P17035			<li>R->G at 179: in dbSNP:rs13382164</li><li>K->Q at 465: in dbSNP:rs10417163</li><li>T->M at 524: in dbSNP:rs8107444</li>									<li>rs13382164</li><li>rs10417163</li><li>rs8107444</li>	2
P17036	7551		<li>I->T at 102: in dbSNP:rs11550034</li>									rs11550034	2
P17038	7594		<li>R->C at 244: in a colorectal cancer sample; somatic mutation</li><li>S->P at 718: in dbSNP:rs1063327</li>									rs1063327	2
P17039			<li>R->Q at 42: in dbSNP:rs1811</li><li>A->T at 109: in dbSNP:rs8100497</li><li>R->K at 298: in dbSNP:rs1345658</li><li>Y->C at 319: in dbSNP:rs765746</li>									<li>rs1345658</li><li>rs1811</li><li>rs765746</li><li>rs8100497</li>	2
P17050	4668		<li>S->C at 160: in Schindler disease; type III, MIM: 609241</li><li>E->K at 325: in Schindler disease; type I and type III, MIM: 609241</li><li>R->Q at 329: in Kanzaki disease, MIM: 609242</li><li>R->W at 329: in Kanzaki disease; loss of activity, MIM: 609242</li>								<li>Kanzaki disease [MIM:609242]</li><li>Schindler disease [MIM:609241]</li>		2
P17066	3310		<li>A->T at 150: in dbSNP:rs10919224</li><li>N->S at 153: in dbSNP:rs10919225</li><li>D->N at 154: in dbSNP:rs10919226</li><li>N->K at 170: in dbSNP:rs41297704</li><li>R->P at 173: in dbSNP:rs41297708</li><li>P->A at 178: in dbSNP:rs41297710</li><li>E->K at 194: in dbSNP:rs41297714</li><li>L->F at 198: in dbSNP:rs1079109</li><li>R->H at 260: in dbSNP:rs41299256</li><li>S->I at 464: in dbSNP:rs388218</li><li>R->H at 471: in dbSNP:rs41299256</li><li>K->E at 528: in dbSNP:rs570189</li><li>D->E at 562: in dbSNP:rs753856</li><li>M->V at 572: in dbSNP:rs452004</li><li>R->Q at 577: in dbSNP:rs368844</li><li>T->A at 626: in dbSNP:rs41299260</li>									<li>rs10919226</li><li>rs10919225</li><li>rs10919224</li><li>rs753856</li><li>rs41297710</li><li>rs570189</li><li>rs41297708</li><li>rs41297714</li><li>rs41297704</li><li>rs1079109</li><li>rs388218</li><li>rs368844</li><li>rs452004</li><li>rs41299256</li><li>rs41299260</li>	2
P17097	7553		<li>G->R at 188: in dbSNP:rs1735169</li><li>S->L at 347: in dbSNP:rs2228180</li><li>L->F at 596: in dbSNP:rs1735170</li>									<li>rs2228180</li><li>rs1735169</li><li>rs1735170</li>	2
P17181	3454		<li>V->L at 168: in dbSNP:rs2257167</li><li>V->I at 307: in dbSNP:rs17875833</li><li>T->M at 359: in dbSNP:rs17875834</li>									<li>rs17875833</li><li>rs17875834</li><li>rs2257167</li>	2
P17252	5578		<li>P->S at 98: in a colorectal adenocarcinoma sample; somatic mutation</li><li>D->N at 467: in a glioblastoma multiforme sample; somatic mutation</li><li>M->V at 489: in dbSNP rsrs34406842</li><li>I->V at 568: in dbSNP:rs6504459</li>									<li>rs6504459</li><li>rs34406842</li>	2
P17275	3726		<li>L->V at 230: in dbSNP:rs17880705</li>									rs17880705	2
P17301	3673	<ul><li>F->A at 1159: No significant reduction of RAB21-binding by co-immunoprecipitation assay; when associated with A-1160 and A-1162</li><li>K->A at 1160: No effect on RAB21-binding. Significant reduction of RAB21-binding; when associated with A-1161. Shows defective cytokinesis on collagen, but not on fibronectin; when associated with A-1161</li><li>R->A at 1161: Significant reduction of RAB21-binding; when associated with A-1160. Shows defective cytokinesis on collagen, but not on fibronectin; when associated with A-1160</li><li>K->A at 1162: No significant reduction of RAB21-binding by co-immunoprecipitation assay; when associated with A-1159 and A-1160</li><li>K->P at 1162: Markedly weakens RAB21-binding. Shows defective cytokinesis on collagen, but not on fibronectin</li><li>E->A at 1164: Significant reduction of RAB21-binding; when associated with A-1160; A-1161 and A-1165</li><li>K->A at 1165: Significant reduction of RAB21-binding; when associated with A-1160; A-1161 and A-1164</li></ul>	<li>K->E at 534: in alloantigen HPA-5B; dbSNP:rs1801106</li><li>N->K at 691: in dbSNP:rs3212557</li><li>N->S at 927: in dbSNP:rs2287870</li><li>K->Q at 1127: in dbSNP:rs3212645</li>	cytokinesis	GO:0000910	binding	GO:0005488	collagen	GO:0005581	<li>Q91289</li><li>Q28377</li><li>P11722</li><li>Q9UL25</li><li>Q9FEW2</li><li>Q28275</li><li>Q28749</li><li>Q9Y251</li><li>Q91400</li><li>Q90YK5</li><li>P12253</li><li>O82030</li><li>P55745</li><li>P07589</li><li>Q8WQ53</li>		<li>rs3212645</li><li>rs2287870</li><li>rs1801106</li><li>rs3212557</li>	3
P17302	2697		<li>Y->S at 17: in ODDD, MIM: 164200</li><li>S->P at 18: in ODDD, MIM: 164200</li><li>G->R at 21: in ODDD; involvement of only the fourth and fifth fingers; SDTY3, MIM: 164200</li><li>G->E at 22: in ODDD; involvement of only the fourth and fifth fingers; SDTY3, MIM: 164200</li><li>K->T at 23: in ODDD, MIM: 164200</li><li>S->P at 27: in ODDD, MIM: 164200</li><li>I->M at 31: in ODDD, MIM: 164200</li><li>A->V at 40: in ODDD, MIM: 164200</li><li>Q->K at 49: in ODDD, MIM: 164200</li><li>F->FF at 52: in ODDD, MIM: 164200</li><li>S->Y at 69: in ODDD, MIM: 164200</li><li>R->S at 76: in ODDD, MIM: 164200</li><li>L->V at 90: in ODDD, MIM: 164200</li><li>Y->C at 98: in ODDD, MIM: 164200</li><li>K->N at 102: in ODDD, MIM: 164200</li><li>L->P at 113: in ODDD, MIM: 164200</li><li>D->E at 124: in dbSNP:rs2228966, MIM: 164200</li><li>I->T at 130: in ODDD, MIM: 164200</li><li>K->E at 134: in ODDD, MIM: 164200</li><li>K->N at 134: in ODDD, MIM: 164200</li><li>G->R at 138: in ODDD, MIM: 164200</li><li>G->S at 143: in SDTY3; dbSNP:rs28931600, MIM: 186100</li><li>R->Q at 148: in dbSNP:rs2228960, MIM: 186100</li><li>A->T at 168: in dbSNP:rs2228961, MIM: 186100</li><li>Y->H at 185: in dbSNP:rs2228962, MIM: 186100</li><li>R->C at 202: in dbSNP:rs2228964, MIM: 186100</li><li>R->H at 202: in ODDD, MIM: 164200</li><li>T->M at 204: in dbSNP:rs2228965, MIM: 164200</li><li>V->L at 216: in ODDD, MIM: 164200</li><li>R->W at 239: in dbSNP:rs2227887, MIM: 164200</li><li>A->V at 253: in dbSNP:rs17653265, MIM: 164200</li><li>P->L at 283: in dbSNP:rs2228974, MIM: 164200</li><li>T->N at 290: in dbSNP:rs2227881, MIM: 164200</li><li>R->Q at 362: in HLHS; in one individual with atrioventricular septal defect; associated with Gln-376; abolishes phosphorylation by PKA and PKC; dbSNP:rs2227885, MIM: 241550</li><li>R->Q at 376: in HLHS; in one individual with atrioventricular septal defect; associated with Gln-362; abolishes phosphorylation by PKA and PKC, MIM: 241550</li>	phosphorylation	GO:0016310	PKA	GO:0004691			<li>P13678</li><li>P13677</li><li>P05130</li><li>P34722</li>	<li>Hypoplastic left heart syndrome (HLHS) [MIM:241550]</li><li>Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]</li><li>Syndactyly type III (SDTY3) [MIM:186100]</li>	<li>rs2228966</li><li>rs2228964</li><li>rs2227881</li><li>rs2228965</li><li>rs2227887</li><li>rs28931600</li><li>rs17653265</li><li>rs2228962</li><li>rs2228974</li><li>rs2228961</li><li>rs2228960</li>	2
P17405	6609		<li>V->A at 36: in dbSNP:rs1050228</li><li>C->R at 157: seems to be less active</li><li>G->R at 242: in NPB, MIM: 607616</li><li>E->Q at 246: in NPA; 30% residual activity, MIM: 257200</li><li>S->R at 248: in NPA, MIM: 257200</li><li>L->P at 302: in NPA; in 23% of NPA Ashkenazi Jewish patients, MIM: 257200</li><li>V->E at 316: in dbSNP:rs12575136, MIM: 257200</li><li>H->Y at 319: in NPA, MIM: 257200</li><li>T->I at 322: in dbSNP:rs1050233, MIM: 257200</li><li>P->S at 371: in NPB, MIM: 607616</li><li>M->I at 382: in NPA, MIM: 257200</li><li>N->S at 383: in NPB, MIM: 607616</li><li>N->T at 389: in NPA, MIM: 257200</li><li>W->G at 391: in NPB; low sphingomyelin degradation rates, MIM: 607616</li><li>H->Y at 421: in NPB, MIM: 607616</li><li>S->R at 436: in NPB, MIM: 607616</li><li>Y->C at 446: in NPA, MIM: 257200</li><li>F->S at 463: in NPA, MIM: 257200</li><li>P->L at 475: in NPA, MIM: 257200</li><li>R->L at 496: in NPA; in 32% of NPA Ashkenazi Jewish patients, MIM: 257200</li><li>G->R at 506: in dbSNP:rs1050239, MIM: 257200</li><li>Y->H at 537: in NPA, MIM: 257200</li><li>G->S at 577: in NPA, MIM: 257200</li><li>Missing  at 608: in NPB; prevalent among NPB patients from the North African Maghreb region, MIM: 257200</li>							<li>Q8NG41</li><li>P10776</li><li>Q8MJV4</li>	<li>Niemann-Pick disease type B (NPB) [MIM:607616]</li><li>Niemann-Pick disease type A (NPA) [MIM:257200]</li>	<li>rs12575136</li><li>rs1050233</li><li>rs1050228</li><li>rs1050239</li>	2
P17516	1109		<li>G->E at 135: in dbSNP:rs11253043</li><li>S->C at 145: in dbSNP:rs3829125</li><li>C->Y at 170: in dbSNP:rs17851824</li><li>R->Q at 250: in dbSNP:rs4880718</li><li>L->V at 311: in dbSNP:rs17134592</li>									<li>rs17851824</li><li>rs11253043</li><li>rs17134592</li><li>rs4880718</li><li>rs3829125</li>	2
P17538			<li>T->A at 250: in dbSNP:rs4737</li>									rs4737	2
P17568	4713		<li>R->G at 106: in dbSNP:rs3752220</li>									rs3752220	2
P17612	5566		<li>L->V at 41: in dbSNP rsrs56029020</li><li>R->Q at 46: in dbSNP rsrs56085217</li><li>S->C at 264: in dbSNP:rs35635531</li>									<li>rs56029020</li><li>rs56085217</li><li>rs35635531</li>	2
P17643	7306		<li>R->H at 326: in dbSNP:rs16929374</li><li>R->Q at 356: in OCA-III, MIM: 203290</li>								Oculocutaneous albinism type III (OCA-III) [MIM:203290]	rs16929374	2
P17655	824		<li>E->D at 22: in dbSNP:rs25655</li><li>S->G at 68: in dbSNP:rs2230083</li><li>K->R at 476: in dbSNP:rs9804140</li><li>E->Q at 521: in dbSNP rsrs28370127</li><li>K->Q at 568: in dbSNP:rs17599</li><li>K->Q at 677: in dbSNP rsrs2230082</li>									<li>rs2230083</li><li>rs2230082</li><li>rs17599</li><li>rs25655</li><li>rs9804140</li><li>rs28370127</li>	2
P17661	1674		<li>S->I at 2: in CSM; entirely similar expression patterns as the wild-type: in dbSNP rsrs58999456, MIM: 601419</li><li>S->F at 46: in CSM; entirely similar expression patterns as the wild-type: in dbSNP rsrs60794845, MIM: 601419</li><li>S->Y at 46: in CSM; entirely similar expression patterns as the wild-type, MIM: 601419</li><li>Missing  at 173-179: in CSM; severe form, MIM: 601419</li><li>A->V at 213: in CSM, MIM: 601419</li><li>E->D at 245: in CSM, MIM: 601419</li><li>A->P at 337: in CSM; mild adult-onset; unable to form a filamentous network: in dbSNP rsrs59962885, MIM: 601419</li><li>N->D at 342: in CSM; unable to form a filamentous network, MIM: 601419</li><li>L->P at 345: in CSM; distal onset; incapable of forming filamentous networks: in dbSNP rsrs57639980, MIM: 601419</li><li>R->P at 350: in Kaeser syndrome and CSM; incapable of de novo formation of a desmin intermediate filaments network; exerts a dominant negative effect on the ordered lateral arrangement of desmin subunits: in dbSNP rsrs57965306, MIM: 181400</li><li>R->P at 355: in CSM: in dbSNP rsrs61368398, MIM: 601419</li><li>A->P at 357: in CSM; unable to polymerize and form an intracellular filamentous network: in dbSNP rsrs58898021, MIM: 601419</li><li>Missing  at 359-361: in CSM, MIM: 601419</li><li>A->P at 360: in CSM; heterozygous with Ile-391 gives a severe childhood-onset; unable to form a filamentous network, MIM: 601419</li><li>Missing  at 366: in CSM, MIM: 601419</li><li>L->P at 370: in CSM; unable to polymerize and form an intracellular filamentous network: in dbSNP rsrs59308628, MIM: 601419</li><li>L->P at 385: in CSM: in dbSNP rsrs57955682, MIM: 601419</li><li>Q->P at 389: in CSM: in dbSNP rsrs28930075, MIM: 601419</li><li>N->I at 393: in CSM; heterozygous with Pro-358 gives a severe childhood-onset; unable to form a filamentous network, MIM: 601419</li><li>R->W at 406: in CSM; unable to form a filamentous network: in dbSNP rsrs61726465, MIM: 601419</li><li>T->I at 442: in CSM; reveals a severe disturbance of filament-formation competence and filament-filament interactions, indicating an inherent incompaibility of mutant and wild-type protein to form mixed filaments, MIM: 601419</li><li>K->M at 449: in CSM, MIM: 601419</li><li>K->T at 449: in CSM; entirely similar expression patterns as the wild-type, MIM: 601419</li><li>I->M at 451: in CMD1I; reveals a severe disturbance of filament-formation competence and filament-filament interactions, indicating an inherent incompaibility of mutant and wild-type protein to form mixed filaments, MIM: 604765</li><li>R->W at 454: in CSM; reveals a severe disturbance of filament-formation competence and filament-filament interactions, indicating an inherent incompaibility of mutant and wild-type protein to form mixed filaments, MIM: 601419</li><li>S->I at 460: in CSM; reveals a severe disturbance of filament-formation competence and filament-filament interactions, indicating an inherent incompaibility of mutant and wild-type protein to form mixed filaments, MIM: 601419</li>					<li>intracellular</li><li>intermediate filaments</li>	<li>GO:0005622</li><li>GO:0005882</li>	<li>P31001</li><li>P23239</li><li>P02541</li><li>P83762</li><li>P02542</li><li>O62654</li><li>P02540</li><li>P48675</li><li>P17661</li><li>Q5XFN2</li>	<li>Desmin-related cardio-skeletal myopathy (CSM) [MIM:601419]</li><li>Cardiomyopathy dilated type 1I (CMD1I) [MIM:604765]</li><li>Neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome) [MIM:181400]</li>	<li>rs57955682</li><li>rs58898021</li><li>rs61726465</li><li>rs58999456</li><li>rs59308628</li><li>rs61368398</li><li>rs28930075</li><li>rs59962885</li><li>rs57965306</li><li>rs57639980</li><li>rs60794845</li>	2
P17676	1051		<li>G->S at 195: in dbSNP:rs4253440</li>									rs4253440	2
P17677	2596		<li>V->I at 59: in dbSNP:rs6291</li><li>K->E at 162: in dbSNP:rs11557762</li>									<li>rs6291</li><li>rs11557762</li>	2
P17735	6898		<li>N->D at 70: in dbSNP:rs16973344</li><li>G->V at 362: in TYRO2: in dbSNP rsrs28934277, MIM: 276600</li>								Tyrosinemia type 2 (TYRO2) [MIM:276600]	<li>rs16973344</li><li>rs28934277</li>	2
P17787	1141		<li>V->L at 287: in ENFL3, MIM: 605375</li><li>V->M at 287: in ENFL3; approximately 10-fold increase in acetylcholine sensitivity, MIM: 605375</li><li>Q->H at 397: in dbSNP rsrs55685423, MIM: 605375</li>								Nocturnal frontal lobe epilepsy type 3 (ENFL3) [MIM:605375]	rs55685423	2
P17812	1503		<li>S->I at 571: in dbSNP:rs17856308</li>									rs17856308	2
P17813	2022		<li>T->M at 5: in dbSNP rsrs35400405</li><li>L->P at 8: in HHT1, MIM: 187300</li><li>V->F at 49: in HHT1, MIM: 187300</li><li>G->V at 52: in HHT1, MIM: 187300</li><li>C->R at 53: in HHT1, MIM: 187300</li><li>L->R at 107: in HHT1, MIM: 187300</li><li>W->C at 149: in HHT1, MIM: 187300</li><li>A->D at 160: in HHT1, MIM: 187300</li><li>Missing  at 192-198: in HHT1, MIM: 187300</li><li>Missing  at 207: in HHT1, MIM: 187300</li><li>L->P at 221: in HHT1, MIM: 187300</li><li>Missing  at 232-233: in HHT1, MIM: 187300</li><li>I->T at 263: in HHT1, MIM: 187300</li><li>Missing  at 263: in HHT1, MIM: 187300</li><li>L->P at 306: in HHT1, MIM: 187300</li><li>D->H at 366: in dbSNP:rs1800956, MIM: 187300</li><li>C->S at 412: in HHT1, MIM: 187300</li><li>G->V at 413: in HHT1, MIM: 187300</li><li>V->M at 504: in HHT1, MIM: 187300</li><li>S->L at 615: in HHT1, MIM: 187300</li>							<li>P61833</li><li>P61831</li><li>P61830</li><li>Q757N1</li><li>Q8SS77</li><li>P69150</li>	Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300, 108010]	<li>rs35400405</li><li>rs1800956</li>	2
P17844	1655		<li>S->A at 480: in dbSNP:rs1140409</li>									rs1140409	2
P17858	5211		<li>G->A at 81</li><li>R->W at 151</li><li>D->V at 237: in dbSNP:rs1057037</li>									rs1057037	2
P17861	7494		<li>D->V at 12: in a breast cancer sample; somatic mutation</li><li>R->K at 232: in a breast cancer sample; somatic mutation</li>										2
P17900	2760		<li>A->T at 19: in dbSNP:rs1048719</li><li>I->V at 59: in dbSNP:rs153477</li><li>M->V at 69: in dbSNP:rs153478</li><li>Missing  at 88: in GM2GAB</li><li>C->R at 138: in GM2GAB, MIM: 272750</li><li>R->P at 169: in GM2GAB, MIM: 272750</li>								GM2-gangliosidosis type AB (GM2GAB) [MIM:272750]	<li>rs153478</li><li>rs153477</li><li>rs1048719</li>	2
P17927	1378		<li>H->R at 1208: in dbSNP:rs2274567</li><li>T->I at 1408</li><li>T->M at 1408: in dbSNP:rs3737002</li><li>K->E at 1590: in MCC: in dbSNP rsrs17047660</li><li>R->G at 1601: in Sl: in dbSNP rsrs17047661</li><li>S->T at 1610: in Sl: in dbSNP rsrs4844609</li><li>I->V at 1615: in dbSNP:rs6691117</li><li>P->R at 1827: in dbSNP:rs3811381</li><li>H->D at 1850</li>									<li>rs3811381</li><li>rs17047661</li><li>rs17047660</li><li>rs2274567</li><li>rs6691117</li><li>rs3737002</li><li>rs4844609</li>	2
P17931	3958		<li>P->H at 64: in dbSNP:rs4644</li><li>T->P at 98: in dbSNP:rs4652</li><li>R->K at 183: in dbSNP:rs10148371</li>									<li>rs4652</li><li>rs4644</li><li>rs10148371</li>	2
P17936	3486		<li>T->M at 7: in a colorectal cancer sample; somatic mutation</li><li>A->G at 32: in dbSNP:rs2854746</li><li>A->T at 56: in dbSNP rsrs34257987</li><li>H->P at 158: in dbSNP:rs9282734</li><li>G->S at 234: in dbSNP rsrs35712717</li><li>R->C at 252: in a colorectal cancer sample; somatic mutation</li>									<li>rs2854746</li><li>rs9282734</li><li>rs34257987</li><li>rs35712717</li>	2
P17987	6950		<li>V->L at 7: in a breast cancer sample; somatic mutation</li>										2
P18054	239		<li>E->K at 259: in dbSNP:rs4987104</li><li>Q->R at 261: in dbSNP:rs1126667</li><li>A->T at 298</li><li>N->S at 322: in dbSNP:rs434473</li><li>R->H at 430: in dbSNP:rs11571342</li>									<li>rs4987104</li><li>rs434473</li><li>rs11571342</li><li>rs1126667</li>	2
P18065	3485		<li>A->D at 140</li>										2
P18084	3693		<li>L->V at 428: in dbSNP:rs2291090</li><li>R->Q at 431: in dbSNP:rs2291089</li><li>N->S at 477: in dbSNP:rs2291087</li>									<li>rs2291090</li><li>rs2291087</li><li>rs2291089</li>	2
P18085	378		<li>V->A at 68: in dbSNP:rs11550597</li>									rs11550597	2
P18089	151		<li>G->A at 211: in dbSNP:rs9333568</li><li>Missing  at 301-303: common polymorphism; frequency in Caucasians 0.31 and in African-Americans 0.12; impaired phosphorylation and desensitization by GRKs</li><li>V->I at 376: in dbSNP:rs29000569</li><li>V->G at 379</li><li>V->I at 379: in dbSNP:rs29000569</li>	phosphorylation	GO:0016310							<li>rs29000569</li><li>rs9333568</li>	2
P18146	1958		<li>T->I at 28: in dbSNP:rs13181973</li><li>N->K at 144: in dbSNP:rs28365166</li><li>S->R at 145: in dbSNP:rs28365164</li><li>E->D at 219: in dbSNP:rs28365165</li>									<li>rs28365164</li><li>rs28365165</li><li>rs28365166</li><li>rs13181973</li>	2
P18206	7414		<li>V->L at 234: in dbSNP:rs17853882</li><li>L->M at 277: in CMD1W, MIM: 611407</li><li>A->V at 934: in dbSNP:rs16931179, MIM: 611407</li><li>P->A at 943, MIM: 611407</li><li>Missing  at 954: in CMD1W, MIM: 611407</li><li>R->W at 975: in CMD1W; significantly alters metavinculin-mediated cross-linking of actin filaments, MIM: 611407</li>							<li>Q92192</li><li>Q92193</li><li>P53499</li><li>P26183</li><li>P53498</li><li>O13419</li><li>Q9P4D1</li><li>P48465</li><li>P53455</li><li>Q39596</li><li>Q39758</li><li>P26182</li><li>P80709</li><li>Q9UVX4</li><li>O17320</li><li>P53689</li><li>P78711</li><li>P30161</li><li>P17128</li><li>P45521</li><li>P20904</li><li>P45520</li><li>P81085</li><li>Q6TCF2</li><li>Q99023</li><li>Q75D00</li><li>P51775</li><li>P10365</li><li>P60011</li><li>P60010</li><li>Q8SWN8</li><li>O16808</li><li>P02577</li><li>P10989</li><li>P68555</li><li>Q64727</li><li>Q05214</li><li>Q8X119</li><li>O65316</li><li>O65315</li><li>O65314</li><li>P53491</li><li>P91754</li><li>P13363</li><li>P18206</li><li>P11426</li><li>O81221</li><li>Q11212</li><li>P50138</li><li>P53477</li><li>P53476</li><li>P60009</li><li>P53502</li><li>Q2U7A3</li><li>P53500</li><li>Q9UVZ8</li><li>P12003</li><li>P14235</li><li>O00937</li><li>Q9UVF3</li><li>Q24733</li><li>P90689</li><li>Q04615</li><li>P24902</li><li>O74258</li><li>P26234</li>	Cardiomyopathy dilated type 1W (CMD1W) [MIM:611407]	<li>rs17853882</li><li>rs16931179</li>	2
P18283	2877		<li>A->L at 37: requires 2 nucleotide substitutions</li><li>P->L at 126: in dbSNP:rs17881652</li><li>R->C at 146: in dbSNP:rs17880492</li><li>I->M at 176</li>									<li>rs17881652</li><li>rs17880492</li>	2
P18428	3929		<li>P->L at 9: in dbSNP:rs2232580</li><li>R->Q at 111: in dbSNP:rs2232583</li><li>L->I at 125: in dbSNP:rs2232585</li><li>E->K at 147: in dbSNP:rs36015492</li><li>V->M at 166: in dbSNP:rs5744204</li><li>M->I at 242: in dbSNP:rs2232601</li><li>D->G at 283: in dbSNP:rs2232607</li><li>H->R at 294: in dbSNP:rs2232608</li><li>P->L at 333: in dbSNP:rs2232613</li><li>L->F at 339: in dbSNP:rs5744212</li><li>I->T at 364: in dbSNP:rs2232615</li><li>F->L at 436: in dbSNP:rs2232618</li><li>A->T at 445: in dbSNP:rs2232619</li>									<li>rs2232580</li><li>rs36015492</li><li>rs5744204</li><li>rs2232613</li><li>rs2232615</li><li>rs2232618</li><li>rs2232608</li><li>rs2232607</li><li>rs2232619</li><li>rs2232601</li><li>rs5744212</li><li>rs2232583</li><li>rs2232585</li>	2
P18462			<li>Y->F at 33: in allele A*2503</li><li>H->Q at 94: in allele A*2502</li>										2
P18463			<li>T->N at 104: in allele B*3705</li><li>LR->RG at 106-107: in allele B*3705</li><li>Y->H at 195: in allele B*3704</li>										2
P18464			<li>TWQT->IIQR at 118-121: in allele B*5104</li><li>S->R at 155: in allele B*5124</li><li>E->V at 176: in allele B*5108</li><li>L->D at 180: in allele B*5108; requires 2 nucleotide substitutions</li><li>W->G at 191: in allele B*5103</li><li>H->Y at 195: in allele B*5102</li>										2
P18465			<li>V->R at 121: in allele B*5705; requires 2 nucleotide substitutions</li><li>V->L at 127: in allele B*5705</li><li>H->Y at 137: in allele B*5705</li><li>D->N at 138: in allele B*5702, allele B*5703 and allele B*5705</li><li>S->Y at 140: in allele B*5702, allele B*5703 and allele B*5705</li><li>L->R at 180: in allele B*5702 and allele B*5705</li>										2
P18505	2560		<li>H->Q at 421: found in 1.1% of population and in some schizophrenic patients; dbSNP:rs41311286</li><li>I->N at 429: in dbSNP:rs17852014</li>									<li>rs41311286</li><li>rs17852014</li>	2
P18507	2566		<li>R->Q at 82: in ECA2 and FEB8; abolishes in vitro sensitivity to diazepam: in dbSNP rsrs28933070, MIM: 611277</li><li>R->G at 177: in FEB8, MIM: 611277</li><li>K->M at 328: in GEFS+3, MIM: 604233</li>							O23087	<li>Generalized epilepsy with febrile seizures plus type 3 (GEFS+3) [MIM:604233]</li><li>Childhood absence epilepsy type 2 (ECA2) [MIM:607681]</li><li>Familial febrile convulsions type 8 (FEB8) [MIM:611277]</li>	rs28933070	2
P18509	116		<li>D->G at 54: in dbSNP:rs2856966</li>									rs2856966	2
P18510	3557		<li>A->T at 124: in dbSNP:rs45507693</li>									rs45507693	2
P18545	5148		<li>P->H at 27</li>										2
P18564	3694		<li>P->T at 437: in dbSNP:rs2305820</li>									rs2305820	2
P18577	6006		<li>W->C at 16: associated with altered expression of E antigen</li><li>A->T at 36: in C</li><li>Q->R at 41: in C</li><li>L->I at 60</li><li>N->S at 68: in dbSNP:rs1053344</li><li>P->S at 103: in C/Rh2 antigen; dbSNP:rs676785</li><li>A->V at 127: in dbSNP:rs1053346</li><li>G->D at 128: in dbSNP:rs1053347</li><li>R->T at 154: in RhEKH</li><li>T->S at 182: in dbSNP:rs1053350</li><li>N->K at 198: in dbSNP:rs1053354</li><li>P->A at 226: in E/Rh5 antigen; dbSNP:rs609320</li><li>Q->E at 233: in RhEFM</li><li>M->V at 238: in RhEFM</li><li>L->V at 245: in VS antigen; dbSNP:rs1053361</li><li>H->P at 323: in dbSNP:rs1053366</li><li>I->S at 325: in dbSNP:rs1053367</li><li>H->D at 329: in dbSNP:rs1053370</li><li>H->R at 329: in dbSNP:rs1053371</li><li>S->Y at 330: in dbSNP:rs1053372</li><li>I->N at 331: in dbSNP:rs1053373</li>							<li>P08099</li><li>P28679</li><li>P91657</li>		<li>rs1053347</li><li>rs1053366</li><li>rs1053373</li><li>rs1053354</li><li>rs1053367</li><li>rs1053372</li><li>rs609320</li><li>rs1053361</li><li>rs1053350</li><li>rs1053344</li><li>rs676785</li><li>rs1053346</li><li>rs1053370</li><li>rs1053371</li>	2
P18825	152		<li>Missing at 322-325</li>										2
P18827	6382		<li>T->M at 76: in dbSNP:rs2230922</li><li>L->Q at 136: in dbSNP:rs10205485</li>									<li>rs2230922</li><li>rs10205485</li>	2
P18846	466		<li>P->A at 191: in dbSNP:rs2230674</li>									rs2230674	2
P18847	467		<li>T->M at 38: in dbSNP:rs11571541</li>									rs11571541	2
P18848	468		<li>Q->P at 22: in dbSNP:rs4894</li><li>P->A at 258: in dbSNP:rs1803323</li><li>E->D at 322: in dbSNP:rs1803324</li>									<li>rs1803324</li><li>rs1803323</li><li>rs4894</li>	2
P18858	3978		<li>A->V at 24: in dbSNP:rs3730855</li><li>P->L at 52: in dbSNP:rs4987181</li><li>R->W at 62: in dbSNP:rs3730863</li><li>D->G at 72: in dbSNP:rs4987070</li><li>K->E at 152: in a colorectal cancer sample; somatic mutation</li><li>G->E at 249: in dbSNP:rs3730911</li><li>N->S at 267: in dbSNP:rs3730933</li><li>V->M at 349: in dbSNP:rs3730947</li><li>V->I at 369: in dbSNP:rs3730966</li><li>R->H at 409: in dbSNP:rs4987068</li><li>M->V at 480: in dbSNP:rs3730980</li><li>E->K at 566: in LIG1 deficiency</li><li>S->L at 612: in a colorectal cancer sample; somatic mutation</li><li>T->I at 614: in dbSNP:rs3731003</li><li>R->L at 677: in dbSNP:rs3731008</li><li>R->W at 771: in LIG1 deficiency</li>							<li>P18858</li><li>Q96JA1</li><li>P43075</li>		<li>rs3730947</li><li>rs3730855</li><li>rs3730911</li><li>rs3730980</li><li>rs4987068</li><li>rs3730863</li><li>rs4987181</li><li>rs3731008</li><li>rs3730966</li><li>rs3731003</li><li>rs4987070</li><li>rs3730933</li>	2
P18887			<li>R->L at 7: in dbSNP:rs2307186</li><li>V->M at 10: in dbSNP:rs2307171</li><li>V->A at 72: in dbSNP:rs25496</li><li>R->H at 107: in dbSNP:rs2228487</li><li>E->K at 157: in dbSNP:rs2307180</li><li>P->L at 161: in dbSNP:rs2307191</li><li>R->W at 194: in dbSNP:rs1799782</li><li>R->H at 280: in dbSNP:rs25489</li><li>K->N at 298: in dbSNP:rs2307188</li><li>T->A at 304: in dbSNP:rs25490</li><li>P->S at 309: in dbSNP:rs25491</li><li>R->W at 350: in a colorectal cancer sample; somatic mutation</li><li>R->Q at 399: in dbSNP:rs25487</li><li>S->Y at 485: in dbSNP:rs2307184</li><li>P->L at 514: in dbSNP:rs25474</li><li>R->Q at 559: in dbSNP:rs2307167</li><li>R->W at 560: in dbSNP:rs2307166</li><li>Y->S at 576: in dbSNP:rs2307177</li>									<li>rs25489</li><li>rs2307188</li><li>rs25490</li><li>rs2307171</li><li>rs25474</li><li>rs25487</li><li>rs25496</li><li>rs1799782</li><li>rs2307180</li><li>rs2228487</li><li>rs2307191</li><li>rs2307166</li><li>rs2307167</li><li>rs25491</li><li>rs2307184</li><li>rs2307177</li><li>rs2307186</li>	2
P19012	3866		<li>T->A at 147: in dbSNP:rs1050784</li><li>K->R at 416: in dbSNP:rs2305556</li><li>G->A at 421: in dbSNP:rs897420</li>									<li>rs897420</li><li>rs1050784</li><li>rs2305556</li>	2
P19013	3851		<li>A->V at 72: in allele K4A1</li><li>Missing  at 83-96: in allele K4B</li><li>E->EQ at 153: in WSN</li><li>E->K at 449: in WSN, MIM: 193900</li>								White sponge nevus of cannon (WSN) [MIM:193900]		2
P19022	1000		<li>A->T at 21: in dbSNP:rs17495042</li><li>A->T at 118: in dbSNP:rs17445840</li><li>S->T at 196: in dbSNP:rs1041970</li><li>I->L at 212: in dbSNP:rs1041972</li><li>T->A at 454: in dbSNP:rs17857112</li><li>N->S at 845: in dbSNP:rs2289664</li>									<li>rs2289664</li><li>rs17857112</li><li>rs17495042</li><li>rs1041972</li><li>rs17445840</li><li>rs1041970</li>	2
P19075	7103		<li>G->A at 73: in dbSNP:rs3763978</li><li>S->A at 213: in dbSNP:rs1051334</li>									<li>rs3763978</li><li>rs1051334</li>	2
P19087	2780		<li>L->I at 107: in dbSNP:rs3738766</li><li>V->M at 124: in dbSNP:rs41280330</li><li>G->D at 183: in dbSNP:rs1799940</li>									<li>rs41280330</li><li>rs1799940</li><li>rs3738766</li>	2
P19099	1585		<li>A->T at 29: in dbSNP:rs6438</li><li>R->Q at 30: in dbSNP:rs6441</li><li>N->NRL at 140: in CMO-1 deficiency; the enzyme is inactive</li><li>K->R at 173: in dbSNP:rs4539</li><li>R->W at 181: in CMO-2 deficiency; reduces 18-hydroxylase and abolishes 18-oxidase activities; leaves 11 beta-hydroxylase activity intact: in dbSNP rsrs28931609, MIM: 610600</li><li>T->I at 185: in CMO-2 deficiency, MIM: 610600</li><li>E->D at 198: in CMO-2 deficiency, MIM: 610600</li><li>N->T at 222: in dbSNP:rs5308, MIM: 610600</li><li>I->T at 248: in dbSNP:rs4547, MIM: 610600</li><li>N->S at 281: in dbSNP:rs4537, MIM: 610600</li><li>I->T at 339: in dbSNP:rs4544, MIM: 610600</li><li>E->V at 383: in dbSNP:rs5312, MIM: 610600</li><li>V->A at 386: in CMO-2 deficiency; small but consistent reduction in the production of 18-hydroxycorticosterone; dbSNP:rs4541, MIM: 610600</li><li>V->E at 403: in dbSNP:rs5315, MIM: 610600</li><li>G->S at 435: in dbSNP:rs4545, MIM: 610600</li><li>L->P at 461: in CMO-1 deficiency; abolishes the 18-hydroxylase activity required for conversion of 11-deoxycorticosterone to aldosterone, MIM: 203400</li><li>F->V at 487: in dbSNP:rs5317, MIM: 203400</li><li>T->A at 498: in CMO-2 deficiency, MIM: 610600</li>							<li>O04121</li><li>Q9LKN0</li><li>O22553</li><li>Q93XE1</li>	<li>Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600]</li><li>Corticosterone methyloxidase type 1 deficiency (CMO-1 deficiency) [MIM:203400]</li>	<li>rs4539</li><li>rs4547</li><li>rs4545</li><li>rs4544</li><li>rs28931609</li><li>rs5308</li><li>rs6438</li><li>rs5317</li><li>rs5312</li><li>rs5315</li><li>rs4537</li><li>rs6441</li>	2
P19113	3067		<li>T->M at 31: in dbSNP:rs17740607</li><li>E->V at 49: in a colorectal cancer sample; somatic mutation</li><li>E->K at 285: in a colorectal cancer sample; somatic mutation</li><li>F->L at 553: in dbSNP:rs16963486</li><li>E->D at 644: in dbSNP:rs2073440</li>									<li>rs2073440</li><li>rs17740607</li><li>rs16963486</li>	2
P19174	5335		<li>T->N at 209: in dbSNP:rs2229348</li><li>S->G at 279: in dbSNP:rs2228246</li><li>S->T at 739: in dbSNP rsrs34203315</li><li>I->T at 813: in dbSNP:rs753381</li>									<li>rs2229348</li><li>rs34203315</li><li>rs2228246</li><li>rs753381</li>	2
P19224	54578		<li>S->A at 7: in allele UGT1A6*2, allele UGT1A6*3 and allele UGT1A6*4; dbSNP:rs6759892</li><li>S->Y at 70: in dbSNP:rs1042708</li><li>T->A at 181: in allele UGT1A6*2; dbSNP:rs2070959</li><li>R->S at 184: in allele UGT1A6*2 and allele UGT1A6*4; dbSNP:rs1105879</li><li>A->P at 510: in dbSNP:rs1042709</li>							<li>Q28611</li><li>P19224</li><li>P08430</li><li>Q64435</li>		<li>rs2070959</li><li>rs1042708</li><li>rs1042709</li><li>rs6759892</li><li>rs1105879</li>	2
P19237	7135		<li>R->W at 67: in dbSNP:rs2296695</li>									rs2296695	2
P19256	965		<li>S->G at 15: in dbSNP:rs17426456</li>									rs17426456	2
P19320	7412		<li>M->I at 18: in dbSNP:rs34228330</li><li>S->F at 318: in dbSNP:rs3783611</li><li>T->A at 384: in dbSNP:rs3783612</li><li>G->A at 413: in dbSNP:rs3783613</li><li>V->I at 421: in dbSNP:rs34100871</li><li>H->R at 488: in dbSNP:rs34199378</li><li>I->L at 716: in dbSNP:rs3783615</li>									<li>rs3783613</li><li>rs3783615</li><li>rs34199378</li><li>rs34100871</li><li>rs34228330</li><li>rs3783612</li><li>rs3783611</li>	2
P19338	4691		<li>P->L at 68: in dbSNP:rs11542691</li><li>P->L at 122: in dbSNP:rs11542687</li><li>A->V at 174: in dbSNP:rs11542689</li>									<li>rs11542691</li><li>rs11542689</li><li>rs11542687</li>	2
P19367	3098		<li>L->S at 529: in hexokinase deficiency, MIM: 235700</li><li>T->S at 680: in hexokinase deficiency; HK Utrecht, MIM: 235700</li><li>L->M at 776: in dbSNP:rs1054203, MIM: 235700</li>							<li>Q969A8</li><li>Q26609</li><li>P80581</li><li>P50506</li><li>P33284</li><li>Q02155</li>	Hexokinase deficiency [MIM:235700]	rs1054203	2
P19388	5434		<li>S->F at 44: in dbSNP:rs12459404</li>									rs12459404	2
P19404	4729		<li>V->A at 29: in dbSNP:rs906807</li>									rs906807	2
P19429	7137		<li>A->V at 2: in CMD2A, MIM: 611880</li><li>R->C at 79: in dbSNP:rs3729712, MIM: 611880</li><li>P->S at 82: in CMH7, MIM: 191044</li><li>R->Q at 141: in CMH7, MIM: 191044</li><li>L->Q at 144: in RCM1, MIM: 115210</li><li>R->G at 145: in CMH7, MIM: 191044</li><li>R->W at 145: in RCM1: in dbSNP rsrs28934871, MIM: 115210</li><li>A->V at 157: in CMH7, MIM: 191044</li><li>R->P at 162: in CMH7, MIM: 191044</li><li>R->Q at 162: in CMH7, MIM: 191044</li><li>S->F at 166: in CMH7, MIM: 191044</li><li>A->T at 171: in RCM1, MIM: 115210</li><li>Missing  at 177: in CMH7, MIM: 115210</li><li>K->E at 178: in RCM1: in dbSNP rsrs28934870, MIM: 115210</li><li>R->Q at 186: in CMH7, MIM: 191044</li><li>D->H at 190: in CMH7 and RCM1, MIM: 115210</li><li>R->H at 192: in RCM1, MIM: 115210</li><li>D->N at 196: in CMH7, MIM: 191044</li><li>R->H at 204: in CMH7, MIM: 191044</li><li>K->Q at 206: in CMH7, MIM: 191044</li>								<li>Cardiomyopathy familial restrictive type 1 (RCM1) [MIM:115210]</li><li>Cardiomyopathy familial hypertrophic type 7 (CMH7) [MIM:191044]</li><li>Cardiomyopathy dilated type 2A (CMD2A) [MIM:611880]</li>	<li>rs28934871</li><li>rs28934870</li><li>rs3729712</li>	2
P19438	7132		<li>H->Q at 51: in FHF, MIM: 142680</li><li>C->R at 59: in FHF, MIM: 142680</li><li>C->S at 59: in FHF, MIM: 142680</li><li>C->G at 62: in FHF, MIM: 142680</li><li>C->Y at 62: in FHF, MIM: 142680</li><li>P->L at 75: in FHF; may be a polymorphism; dbSNP:rs4149637, MIM: 142680</li><li>T->M at 79: in FHF, MIM: 142680</li><li>C->F at 81: in FHF, MIM: 142680</li><li>C->S at 99: in FHF, MIM: 142680</li><li>S->G at 115: in FHF, MIM: 142680</li><li>C->R at 117: in FHF, MIM: 142680</li><li>C->Y at 117: in FHF, MIM: 142680</li><li>R->P at 121: in FHF, MIM: 142680</li><li>R->Q at 121: in FHF; may be a polymorphism; dbSNP:rs4149584, MIM: 142680</li><li>P->T at 305: in dbSNP:rs1804532, MIM: 142680</li>								Familial hibernian fever (FHF) [MIM:142680]	<li>rs1804532</li><li>rs4149584</li><li>rs4149637</li>	2
P19474	6737		<li>P->A at 52: in dbSNP:rs1042302</li><li>G->R at 96: in dbSNP:rs2975162</li><li>E->K at 231: in dbSNP:rs2554934</li>									<li>rs2554934</li><li>rs2975162</li><li>rs1042302</li>	2
P19526	2523		<li>A->V at 12: in dbSNP:rs2071699</li><li>D->Y at 148: in para-Bombay allele H4: in dbSNP rsrs56346833</li><li>Y->C at 154: in Bombay H-</li><li>Y->H at 154: in para-Bombay allele H5: in dbSNP rsrs55678037</li><li>L->H at 164: in para-Bombay</li><li>W->C at 171: in Bombay H-</li><li>Y->H at 241: in para-Bombay allele H3: in dbSNP rsrs55907428</li><li>L->R at 242: in Bombay H-: in dbSNP rsrs28934588</li><li>V->E at 259: in Bombay H-</li><li>A->V at 315: in Bombay H-</li><li>E->K at 348: in para-Bombay allele H5: in dbSNP rsrs56131151</li><li>W->C at 349: in Bombay H-</li>									<li>rs55907428</li><li>rs28934588</li><li>rs56346833</li><li>rs56131151</li><li>rs2071699</li><li>rs55678037</li>	2
P19532	7030		<li>S->C at 96: in dbSNP:rs5953258</li><li>T->A at 313: in dbSNP:rs3027470</li>									<li>rs5953258</li><li>rs3027470</li>	2
P19544	7490		<li>A->T at 131: in hypospadias</li><li>P->S at 181: in WT1; dbSNP:rs2234584, MIM: 194070</li><li>S->N at 223: in WT1, MIM: 194070</li><li>G->A at 253: in WT1, MIM: 194070</li><li>S->G at 273: in mesothelioma, MIM: 194070</li><li>R->Q at 312: in IDMS, MIM: 256370</li><li>C->Y at 330: in DDS, MIM: 194080</li><li>M->R at 342: in DDS, MIM: 194080</li><li>C->G at 355: in WT1, MIM: 194070</li><li>C->Y at 355: in DDS, MIM: 194080</li><li>C->G at 360: in DDS, MIM: 194080</li><li>C->Y at 360: in DDS, MIM: 194080</li><li>F->L at 364: in nephrotic syndrome, MIM: 194080</li><li>R->C at 366: in WT1, DDS and Meacham syndrome, MIM: 194070</li><li>R->H at 366: in DDS and WT1, MIM: 194070</li><li>R->L at 366: in DDS, MIM: 194080</li><li>Q->P at 369: in DDS, MIM: 194080</li><li>H->Q at 373: in DDS and WT1, MIM: 194070</li><li>H->Y at 373: in DDS, MIM: 194080</li><li>H->R at 377: in DDS, MIM: 194080</li><li>H->Y at 377: in IDMS, MIM: 256370</li><li>G->C at 379: in nephrotic syndrome, MIM: 256370</li><li>F->L at 383: in IDMS, MIM: 256370</li><li>C->R at 385: in DDS, MIM: 194080</li><li>C->F at 388: in DDS, MIM: 194080</li><li>C->R at 388: in nephrotic syndrome, MIM: 194080</li><li>C->Y at 388: in DDS, MIM: 194080</li><li>F->L at 392: in FS, MIM: 136680</li><li>R->L at 394: in WT1, MIM: 194070</li><li>R->P at 394: in DDS, MIM: 194080</li><li>R->Q at 394: in DDS, MIM: 194080</li><li>R->W at 394: in DDS, WT1 and Meacham syndrome, MIM: 194070</li><li>D->G at 396: in DDS, MIM: 194080</li><li>D->N at 396: in DDS and IDMS, MIM: 256370</li><li>D->Y at 396: in DDS, MIM: 194080</li><li>H->P at 397: in nephrotic syndrome, MIM: 194080</li><li>L->P at 398: in DDS, MIM: 194080</li><li>H->Y at 401: in DDS, MIM: 194080</li><li>H->R at 405: in DDS, MIM: 194080</li>							<li>O62651</li><li>P19544</li><li>P49953</li><li>P50902</li>	<li>Frasier syndrome (FS) [MIM:136680]</li><li>Isolated diffuse mesangial sclerosis (IDMS) [MIM:256370]</li><li>Wilms tumor 1 (WT1) [MIM:194070]</li><li>Denys-Drash syndrome (DDS) [MIM:194080]</li><li>Meacham syndrome [MIM:608978]</li>		2
P19622	2020		<li>L->F at 121: in dbSNP:rs3735653</li>									rs3735653	2
P19623	6723		<li>L->V at 149: in dbSNP:rs1049932</li>									rs1049932	2
P19652	5005		<li>R->Q at 38: in dbSNP:rs17650</li><li>V->A at 99: in dbSNP:rs2636889</li><li>G->R at 141: in dbSNP:rs12685968</li><li>C->R at 167: in dbSNP:rs1126777</li><li>M->V at 174: in dbSNP:rs2636890</li>									<li>rs1126777</li><li>rs12685968</li><li>rs17650</li><li>rs2636890</li><li>rs2636889</li>	2
P19784	1459		<li>E->A at 188: in dbSNP rsrs55911801</li>									rs55911801	2
P19793	6256		<li>P->L at 261: in dbSNP:rs2234960</li><li>A->S at 327: in dbSNP:rs1805345</li><li>S->I at 336: in dbSNP:rs1805345</li><li>A->V at 398: in dbSNP:rs11542209</li>									<li>rs1805345</li><li>rs2234960</li><li>rs11542209</li>	2
P19801	26		<li>T->M at 16: in dbSNP rsrs10156191</li><li>S->F at 332: in dbSNP rsrs1049742</li><li>M->I at 479: in dbSNP rsrs45558339</li><li>D->H at 645: in dbSNP:rs1049793</li><li>N->H at 659: in dbSNP rsrs35070995</li>									<li>rs35070995</li><li>rs10156191</li><li>rs1049793</li><li>rs1049742</li><li>rs45558339</li>	2
P19827	3697		<li>S->T at 263: in dbSNP:rs1042777</li><li>E->V at 585: in allele ITIH1*2; dbSNP:rs678</li><li>Q->R at 595: in allele ITIH1*2 and allele ITIH1*3; dbSNP:rs1042779</li><li>G->C at 695: in dbSNP:rs1042904</li><li>D->E at 844: in dbSNP:rs1042849</li>							<li>P97278</li><li>Q29052</li><li>P19827</li>		<li>rs1042849</li><li>rs1042777</li><li>rs1042904</li><li>rs1042779</li><li>rs678</li>	2
P19878	4688		<li>Missing  at 19-21: in CGD2</li><li>R->Q at 77: in CGD2, MIM: 233710</li><li>G->E at 78: in CGD2, MIM: 233710</li><li>A->V at 128: in CGD2, MIM: 233710</li><li>DK->EV at 160-161: in CGD2, MIM: 233710</li><li>K->R at 181: in dbSNP:rs2274064, MIM: 233710</li><li>T->M at 279: in dbSNP:rs13306581, MIM: 233710</li><li>V->A at 297: in dbSNP:rs35937854, MIM: 233710</li><li>R->K at 328, MIM: 233710</li><li>H->Q at 389: in dbSNP:rs17849502, MIM: 233710</li><li>R->W at 395: in AR-CGD; dbSNP:rs13306575, MIM: 233710</li><li>N->I at 419: in dbSNP:rs35012521, MIM: 233710</li>								Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710]	<li>rs35937854</li><li>rs2274064</li><li>rs13306581</li><li>rs35012521</li><li>rs13306575</li><li>rs17849502</li>	2
P19883	10468		<li>E->Q at 152: in dbSNP:rs11745088</li>									rs11745088	2
P19957	5266		<li>T->M at 17: in dbSNP:rs17333103</li><li>T->P at 34: in dbSNP:rs2664581</li>									<li>rs17333103</li><li>rs2664581</li>	2
P19971	1890		<li>R->Q at 44: in MNGIE: in dbSNP rsrs28931613, MIM: 603041</li><li>G->R at 145: in MNGIE, MIM: 603041</li><li>G->S at 153: in MNGIE, MIM: 603041</li><li>K->R at 222: in MNGIE, MIM: 603041</li><li>E->A at 289: in MNGIE, MIM: 603041</li><li>Missing  at 397-398: in MNGIE, MIM: 603041</li><li>S->L at 471: in dbSNP:rs11479, MIM: 603041</li>								Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) [MIM:603041]	<li>rs28931613</li><li>rs11479</li>	2
P20020	490		<li>M->R at 267: rare polymorphism</li>										2
P20023	1380		<li>S->N at 639: in dbSNP:rs17615</li><li>I->V at 993: in dbSNP:rs17258982</li><li>A->E at 1003: in dbSNP:rs6540433</li>									<li>rs17615</li><li>rs17258982</li><li>rs6540433</li>	2
P20036	3113		<li>A->T at 42: in dbSNP:rs1126533</li><li>A->V at 42: in dbSNP:rs1126534</li><li>M->L at 62: in dbSNP:rs2308911</li><li>Q->R at 81: in dbSNP:rs1042178</li><li>L->S at 97: in dbSNP:rs2308917</li><li>T->A at 114: in dbSNP:rs1126542</li><li>K->R at 142: in dbSNP:rs1042190</li><li>F->V at 191: in dbSNP:rs1042308</li>									<li>rs1126534</li><li>rs1042308</li><li>rs1126533</li><li>rs2308917</li><li>rs1042190</li><li>rs1126542</li><li>rs1042178</li><li>rs2308911</li>	2
P20039			<li>R->E at 100: in allele DRB1*1103; requires 2 nucleotide substitutions</li><li>G->V at 115: in allele DRB1*1103 and allele DRB1*1104</li>							Q8IUH3			2
P20042	8894		<li>E->D at 177: in dbSNP:rs17856024</li>									rs17856024	2
P20061	6947		<li>R->H at 35: in dbSNP:rs34528912</li><li>D->Y at 301: in dbSNP:rs34324219</li>									<li>rs34324219</li><li>rs34528912</li>	2
P20062	6948		<li>I->V at 23: in dbSNP:rs9606756</li><li>F->L at 89: in dbSNP:rs35915865</li><li>M->T at 198</li><li>R->W at 215: in dbSNP:rs35838082</li><li>I->L at 219</li><li>R->Q at 227: in dbSNP:rs17849434</li><li>R->P at 259: in dbSNP:rs1801198</li><li>S->F at 348: in dbSNP:rs9621049</li><li>L->S at 376: in dbSNP:rs1131603</li><li>R->Q at 399: in dbSNP:rs4820889</li>									<li>rs17849434</li><li>rs4820889</li><li>rs35915865</li><li>rs9606756</li><li>rs35838082</li><li>rs1801198</li><li>rs1131603</li><li>rs9621049</li>	2
P20073	310		<li>R->Q at 441: in dbSNP:rs3750575</li>									rs3750575	2
P20151	3817		<li>V->L at 18: in dbSNP:rs6072</li><li>R->W at 250: in dbSNP:rs198977</li>									<li>rs6072</li><li>rs198977</li>	2
P20226	6908		<li>Missing at 92-95</li>										2
P20231	7177		<li>HGP->RDR at 51-53: in beta-III</li>										2
P20248	890		<li>V->I at 163: in dbSNP:rs769242</li>									rs769242	2
P20273	933		<li>A->T at 34</li><li>Q->E at 152: observed with a marginally higher frequency in patients with systemic lupus erythematosus</li><li>E->K at 203</li><li>G->R at 551: in dbSNP:rs35715143</li><li>Y->H at 639: in dbSNP:rs1058407</li><li>S->G at 664: in dbSNP:rs17719289</li><li>R->C at 669</li><li>G->D at 745: in dbSNP:rs10406069</li>									<li>rs1058407</li><li>rs35715143</li><li>rs17719289</li><li>rs10406069</li>	2
P20333	7133		<li>V->M at 187: in dbSNP:rs2228494</li><li>M->R at 196: frequent polymorphism; seems to be associated with hyperandrogenism, polycystic ovary syndrome : in dbSNP rsrs1061622</li><li>E->K at 232: in dbSNP:rs5746026</li><li>A->T at 236: in dbSNP:rs5746027</li><li>L->P at 264: in dbSNP:rs2229700</li><li>T->P at 269: in dbSNP:rs17879042</li><li>Q->R at 295: in dbSNP:rs5746032</li><li>P->R at 301: in dbSNP:rs17883432</li>									<li>rs5746032</li><li>rs1061622</li><li>rs5746027</li><li>rs5746026</li><li>rs17883432</li><li>rs2229700</li><li>rs2228494</li><li>rs17879042</li>	2
P20396	7200		<li>L->V at 8: in dbSNP:rs5658</li>									rs5658	2
P20585	4437		<li>Missing at 57-65</li><li>A->AAAA at 62</li><li>I->V at 79: in dbSNP:rs1650697</li><li>F->L at 709: in dbSNP:rs1805354</li><li>Y->F at 789: in dbSNP:rs10067975</li><li>R->Q at 949: in dbSNP:rs184967</li><li>A->T at 1045: in dbSNP:rs26279</li><li>T->A at 1054: in dbSNP:rs1805131</li>									<li>rs1805354</li><li>rs1650697</li><li>rs26279</li><li>rs10067975</li><li>rs184967</li><li>rs1805131</li>	2
P20591	4599		<li>A->V at 381: in dbSNP:rs34717738</li><li>Q->H at 611: in dbSNP:rs2230454</li>									<li>rs2230454</li><li>rs34717738</li>	2
P20594	4882		<li>P->T at 32: in AMDM; dbSNP:rs28931581, MIM: 602875</li><li>W->G at 115: in AMDM; markedly deficient activity; dbSNP:rs28931582, MIM: 602875</li><li>D->E at 176: in AMDM; dbSNP:rs28929479, MIM: 602875</li><li>M->I at 232: in dbSNP rsrs55747238, MIM: 602875</li><li>T->M at 297: in AMDM; markedly deficient activity, MIM: 602875</li><li>Y->C at 338: in AMDM, MIM: 602875</li><li>A->T at 409: in AMDM, MIM: 602875</li><li>G->E at 413: in AMDM; markedly deficient activity, MIM: 602875</li><li>Y->C at 708: in AMDM, MIM: 602875</li><li>Q->E at 771: in dbSNP:rs5816, MIM: 602875</li><li>R->W at 776: in AMDM, MIM: 602875</li><li>V->I at 882: in dbSNP rsrs55700371, MIM: 602875</li><li>R->C at 957: in AMDM, MIM: 602875</li><li>G->A at 959: in AMDM, MIM: 602875</li>								Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	<li>rs28929479</li><li>rs5816</li><li>rs55747238</li><li>rs55700371</li><li>rs28931582</li><li>rs28931581</li>	2
P20618	5689		<li>P->A at 11: in dbSNP:rs12717</li><li>I->N at 208: in dbSNP:rs10541</li>									<li>rs10541</li><li>rs12717</li>	2
P20648	495		<li>V->A at 265: in dbSNP:rs2733743</li>									rs2733743	2
P20700	4001		<li>A->V at 501: in dbSNP:rs36105360</li>									rs36105360	2
P20701	3683		<li>R->H at 144: in dbSNP:rs34166708</li><li>R->W at 214: in dbSNP:rs1064524</li><li>Q->K at 746: in dbSNP:rs34838942</li><li>R->T at 791: in dbSNP:rs2230433</li>									<li>rs2230433</li><li>rs1064524</li><li>rs34838942</li><li>rs34166708</li>	2
P20702	3687		<li>W->R at 48: in dbSNP:rs2230424</li><li>F->L at 201: in dbSNP:rs1574566</li><li>A->T at 251: in dbSNP:rs2230428</li><li>P->R at 517: in dbSNP:rs2230429</li><li>E->K at 547: in dbSNP:rs17853815</li><li>F->L at 971: in dbSNP:rs2230427</li>									<li>rs1574566</li><li>rs2230424</li><li>rs2230427</li><li>rs2230429</li><li>rs17853815</li><li>rs2230428</li>	2
P20711	1644		<li>V->M at 17: in dbSNP:rs6264</li><li>P->H at 47: in AADCD, MIM: 608643</li><li>E->D at 61: in dbSNP:rs11575292, MIM: 608643</li><li>A->V at 91: in AADCD, MIM: 608643</li><li>G->S at 102: in AADCD, MIM: 608643</li><li>S->R at 147: in AADCD, MIM: 608643</li><li>P->L at 210: in dbSNP:rs6262, MIM: 608643</li><li>M->V at 217: in dbSNP:rs6263, MIM: 608643</li><li>M->I at 239: in dbSNP:rs11575377, MIM: 608643</li><li>M->L at 239: in dbSNP:rs11575376, MIM: 608643</li><li>S->F at 250: in AADCD, MIM: 608643</li><li>A->T at 275: in AADCD, MIM: 608643</li><li>F->L at 309: in AADCD, MIM: 608643</li><li>R->Q at 347: in AADCD, MIM: 608643</li><li>L->I at 408: in AADCD, MIM: 608643</li><li>R->Q at 462: in dbSNP:rs11575542, MIM: 608643</li>								Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	<li>rs11575377</li><li>rs11575542</li><li>rs11575376</li><li>rs6262</li><li>rs6263</li><li>rs6264</li><li>rs11575292</li>	2
P20718	2999		<li>R->Q at 84: in dbSNP:rs20545</li>									rs20545	2
P20742			<li>L->V at 379: in dbSNP:rs12230214</li><li>V->M at 691: in dbSNP:rs3213832</li><li>V->A at 813: in dbSNP:rs2277413</li><li>R->H at 1128: in a colorectal cancer sample; somatic mutation</li><li>I->N at 1443: in dbSNP:rs10842971</li>									<li>rs12230214</li><li>rs10842971</li><li>rs2277413</li><li>rs3213832</li>	2
P20783	4908		<li>G->E at 76: in dbSNP:rs1805149</li>									rs1805149	2
P20794	4117		<li>I->V at 189: in dbSNP rsrs56215624</li><li>R->P at 272: in a breast infiltrating ductal carcinoma sample; somatic mutation</li><li>D->E at 329: in dbSNP:rs17579447</li><li>N->S at 384: in dbSNP rsrs55773478</li><li>P->S at 520: in dbSNP:rs567083</li><li>F->L at 550: in dbSNP rsrs56217305</li>									<li>rs56215624</li><li>rs17579447</li><li>rs56217305</li><li>rs55773478</li><li>rs567083</li>	2
P20800	1907		<li>F->L at 131: in dbSNP:rs5798</li><li>P->L at 168: in dbSNP:rs11572371</li>									<li>rs11572371</li><li>rs5798</li>	2
P20807	825		<li>V->I at 4: in LGMD2A, MIM: 253600</li><li>G->E at 21: in dbSNP:rs28364364, MIM: 253600</li><li>P->L at 26: in LGMD2A, MIM: 253600</li><li>D->N at 77: in LGMD2A, MIM: 253600</li><li>S->F at 86: in LGMD2A; severe, MIM: 253600</li><li>Missing  at 93-100: in LGMD2A, MIM: 253600</li><li>E->K at 107: in dbSNP:rs1801505, MIM: 253600</li><li>R->G at 118: in LGMD2A, MIM: 253600</li><li>C->R at 137: in LGMD2A, MIM: 253600</li><li>A->G at 160: in dbSNP:rs17592, MIM: 253600</li><li>I->L at 162: in LGMD2A, MIM: 253600</li><li>L->Q at 182: in LGMD2A, MIM: 253600</li><li>P->L at 183: in LGMD2A, MIM: 253600</li><li>T->M at 184: in LGMD2A; dbSNP:rs35889956, MIM: 253600</li><li>L->P at 189: in LGMD2A, MIM: 253600</li><li>Missing  at 200-204: in LGMD2A, MIM: 253600</li><li>G->S at 214: in LGMD2A, MIM: 253600</li><li>Missing  at 215-221: in LGMD2A, MIM: 253600</li><li>S->P at 215: in LGMD2A, MIM: 253600</li><li>E->K at 217: in LGMD2A, MIM: 253600</li><li>G->R at 222: in LGMD2A, MIM: 253600</li><li>E->K at 226: in LGMD2A, MIM: 253600</li><li>T->I at 232: in LGMD2A, MIM: 253600</li><li>G->E at 234: in LGMD2A, MIM: 253600</li><li>A->T at 236: in dbSNP:rs1801449, MIM: 253600</li><li>Missing  at 254: in LGMD2A, MIM: 253600</li><li>P->L at 319: in LGMD2A, MIM: 253600</li><li>H->Q at 334: in LGMD2A, MIM: 253600</li><li>Y->N at 336: in LGMD2A, MIM: 253600</li><li>V->G at 354: in LGMD2A, MIM: 253600</li><li>W->C at 360: in LGMD2A, MIM: 253600</li><li>R->C at 437: in LGMD2A, MIM: 253600</li><li>R->W at 440: in LGMD2A, MIM: 253600</li><li>G->D at 441: in LGMD2A, MIM: 253600</li><li>G->R at 445: in LGMD2A, MIM: 253600</li><li>R->C at 448: in LGMD2A, MIM: 253600</li><li>R->G at 448: in LGMD2A, MIM: 253600</li><li>R->H at 448: in LGMD2A, MIM: 253600</li><li>S->G at 479: in LGMD2A, MIM: 253600</li><li>Q->E at 486: in LGMD2A, MIM: 253600</li><li>R->Q at 489: in LGMD2A, MIM: 253600</li><li>R->W at 489: in LGMD2A, MIM: 253600</li><li>R->Q at 490: in LGMD2A, MIM: 253600</li><li>R->W at 490: in LGMD2A, MIM: 253600</li><li>R->W at 493: in LGMD2A, MIM: 253600</li><li>G->R at 496: in LGMD2A, MIM: 253600</li><li>I->T at 502: in LGMD2A, MIM: 253600</li><li>R->Q at 541: in LGMD2A, MIM: 253600</li><li>G->W at 567: in LGMD2A, MIM: 253600</li><li>R->Q at 572: in LGMD2A, MIM: 253600</li><li>R->W at 572: in LGMD2A, MIM: 253600</li><li>S->L at 606: in LGMD2A, MIM: 253600</li><li>E->A at 622: in dbSNP:rs11557723, MIM: 253600</li><li>Q->P at 638: in LGMD2A, MIM: 253600</li><li>R->P at 698: in LGMD2A, MIM: 253600</li><li>A->V at 702: in LGMD2A, MIM: 253600</li><li>D->G at 705: in LGMD2A, MIM: 253600</li><li>D->H at 705: in LGMD2A, MIM: 253600</li><li>F->S at 731: in LGMD2A, MIM: 253600</li><li>S->G at 744: in LGMD2A, MIM: 253600</li><li>R->Q at 748: in LGMD2A, MIM: 253600</li><li>R->Q at 769: in LGMD2A, MIM: 253600</li><li>H->D at 774: in LGMD2A; could be a rare polymorphism, MIM: 253600</li><li>A->E at 798: in LGMD2A; could be a rare polymorphism, MIM: 253600</li>								Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	<li>rs35889956</li><li>rs28364364</li><li>rs1801449</li><li>rs17592</li><li>rs1801505</li><li>rs11557723</li>	2
P20809	3589		<li>V->M at 108: in dbSNP:rs4252576</li><li>R->H at 112: in dbSNP:rs4252548</li>									<li>rs4252576</li><li>rs4252548</li>	2
P20810	831		<li>E->K at 380: in dbSNP:rs1643702</li><li>C->S at 408: in dbSNP:rs754615</li><li>A->V at 537: in dbSNP:rs4948</li><li>E->G at 592</li>									<li>rs754615</li><li>rs1643702</li><li>rs4948</li>	2
P20813	1555		<li>Q->L at 21: in allele CYP2B6*10; dbSNP:rs34883432</li><li>R->C at 22: in allele CYP2B6*2 and allele CYP2B6*10; dbSNP:rs8192709</li><li>T->S at 26: in dbSNP rsrs33973337</li><li>D->G at 28: in dbSNP rsrs33980385</li><li>R->P at 29: in dbSNP:rs34284776</li><li>R->S at 29: in dbSNP rsrs33926104</li><li>M->V at 46: in allele CYP2B6*11; dbSNP:rs35303484</li><li>G->E at 99: in allele CYP2B6*12: in dbSNP rsrs36060847</li><li>K->E at 139: in allele CYP2B6*8 and allele CYP2B6*13: in dbSNP rsrs12721655</li><li>R->Q at 140: in allele CYP2B6*14: in dbSNP rsrs35773040</li><li>P->A at 167: in dbSNP:rs3826711</li><li>Q->H at 172: in allele CYP2B6*6, allele CYP2B6*7, allele CYP2B6*9 and allele CYP2B6*13; dbSNP:rs3745274</li><li>S->R at 259: in allele CYP2B6*3: in dbSNP rsrs45482602</li><li>K->R at 262: in allele CYP2B6*4, allele CYP2B6*6, allele CYP2B6*7 and allele CYP2B6*13; slight decrease in activity; dbSNP:rs2279343</li><li>N->K at 289: in dbSNP rsrs34277950</li><li>T->S at 306: in dbSNP rsrs34698757</li><li>I->T at 328: in dbSNP:rs28399499</li><li>I->N at 391: in allele CYP2B6*15; dbSNP:rs35979566</li><li>R->C at 487: in allele CYP2B6*5 and allele CYP2B6*7; dbSNP:rs3211371</li>							P20813		<li>rs36060847</li><li>rs3826711</li><li>rs34284776</li><li>rs34277950</li><li>rs34883432</li><li>rs35979566</li><li>rs33973337</li><li>rs35303484</li><li>rs3211371</li><li>rs33980385</li><li>rs34698757</li><li>rs8192709</li><li>rs3745274</li><li>rs12721655</li><li>rs28399499</li><li>rs45482602</li><li>rs35773040</li><li>rs2279343</li><li>rs33926104</li>	2
P20815	1577		<li>R->C at 28: in allele CYP3A5*8; dbSNP:rs55817950</li><li>H->Y at 30: in dbSNP:rs28383468</li><li>Q->R at 200: in allele CYP3A5*4; dbSNP:rs56411402</li><li>D->E at 277: in dbSNP:rs28383477</li><li>A->T at 337: in allele CYP3A5*9; dbSNP:rs28383479</li><li>I->V at 371: in dbSNP:rs28365092</li><li>T->N at 398: in allele CYP3A5*2; dbSNP:rs28365083</li><li>F->S at 446: in dbSNP:rs41279854</li><li>I->T at 488: in dbSNP:rs28365085</li>							P20815		<li>rs28383479</li><li>rs28383477</li><li>rs28383468</li><li>rs28365083</li><li>rs55817950</li><li>rs28365085</li><li>rs28365092</li><li>rs41279854</li><li>rs56411402</li>	2
P20823	6927		<li>L->H at 12: in MODY3, MIM: 600496</li><li>G->R at 20: in MODY3, MIM: 600496</li><li>I->L at 27: in dbSNP:rs1169288, MIM: 600496</li><li>G->D at 31: in MODY3, MIM: 600496</li><li>E->K at 48: in IDDM, MIM: 222100</li><li>A->V at 98: in dbSNP:rs1800574, MIM: 222100</li><li>L->R at 107: in MODY3, MIM: 600496</li><li>K->E at 117: in MODY3, MIM: 600496</li><li>Y->C at 122: in MODY3, MIM: 600496</li><li>N->Y at 127: in a hepatocellular carcinoma sample; somatic mutation, MIM: 600496</li><li>I->N at 128: in MODY3, MIM: 600496</li><li>P->T at 129: in MODY3, MIM: 600496</li><li>R->Q at 131: in MODY3, MIM: 600496</li><li>R->W at 131: in MODY3, MIM: 600496</li><li>V->M at 133: in MODY3, MIM: 600496</li><li>S->F at 142: in MODY3, MIM: 600496</li><li>H->Y at 143: in MODY3, MIM: 600496</li><li>K->N at 158: in MODY3, MIM: 600496</li><li>R->Q at 159: in MODY3, MIM: 600496</li><li>R->W at 159: in MODY3, MIM: 600496</li><li>A->T at 161: in MODY3, MIM: 600496</li><li>W->C at 165: in a hepatocellular carcinoma sample; somatic mutation, MIM: 600496</li><li>G->D at 191: in late-onset NIDDM, MIM: 600496</li><li>R->W at 200: in MODY3, MIM: 600496</li><li>R->C at 203: in MODY3, MIM: 600496</li><li>R->H at 203: in MODY3, MIM: 600496</li><li>K->Q at 205: in MODY3, MIM: 600496</li><li>W->C at 206: in a hepatic adenoma sample; somatic mutation, MIM: 600496</li><li>W->L at 206: in a hepatic adenoma sample; somatic mutation, MIM: 600496</li><li>R->Q at 229: in MODY3, MIM: 600496</li><li>N->S at 237: in a hepatic multiple adenoma sample; somatic mutation, MIM: 600496</li><li>C->G at 241: in MODY3 and IDDM, MIM: 600496</li><li>R->G at 244: in a hepatic adenoma sample; somatic mutation, MIM: 600496</li><li>Q->P at 250: in a hepatocellular carcinoma sample; somatic mutation, MIM: 600496</li><li>L->M at 254: in late-onset NIDDM; low penetrance; could be a rare polymorphism, MIM: 600496</li><li>V->D at 259: in MODY3, MIM: 600496</li><li>T->M at 260: in MODY3, MIM: 600496</li><li>R->C at 263: in MODY3, MIM: 600496</li><li>F->C at 268: in a hepatic adenoma sample; somatic mutation, MIM: 600496</li><li>R->W at 271: in MODY3, MIM: 600496</li><li>R->C at 272: in NIDDM, MIM: 600496</li><li>R->H at 272: in IDDM and MODY3, MIM: 600496</li><li>K->E at 273: in a hepatic adenoma sample; somatic mutation, MIM: 600496</li><li>G->S at 319: strong association with NIDDM susceptibility; unique to the Canadian Oji-Cree population, MIM: 600496</li><li>G->R at 415: in IDDM; loss of function, MIM: 222100</li><li>S->C at 432: in MODY3, MIM: 600496</li><li>P->L at 447: in MODY3, MIM: 600496</li><li>S->N at 487: in dbSNP:rs2464196, MIM: 600496</li><li>H->R at 514, MIM: 600496</li><li>P->L at 519: in MODY3, MIM: 600496</li><li>T->R at 537: in MODY3; incomplete penetrance, MIM: 600496</li><li>G->S at 574: in a black African with an atypical form of diabetes; also in an individual with hepatic adenoma and familial early-onset diabetes; dbSNP:rs1169305, MIM: 600496</li><li>R->G at 583: in IDDM, MIM: 222100</li><li>R->Q at 583: in late-onset NIDDM; also in an individual with hepatic hyperplasia and familial early-onset diabetes, MIM: 222100</li><li>S->I at 594: in MODY3, MIM: 600496</li><li>I->M at 618: in MODY3, MIM: 600496</li><li>E->K at 619: in MODY3, MIM: 600496</li><li>T->I at 620: in MODY3; incomplete penetrance, MIM: 600496</li>								<li>Insulin-dependent diabetes mellitus (IDDM) [MIM:222100]</li><li>Maturity onset diabetes of the young type 3 (MODY3) [MIM:600496]</li>	<li>rs2464196</li><li>rs1169288</li><li>rs1169305</li><li>rs1800574</li>	2
P20827	1942		<li>D->V at 159: in dbSNP:rs4745</li>									rs4745	2
P20839	3614		<li>R->P at 224: in RP10, MIM: 180105</li><li>D->N at 226: in RP10, MIM: 180105</li><li>V->I at 268: in RP10, MIM: 180105</li>							<li>Q39290</li><li>Q9SYA6</li>	Retinitis pigmentosa type 10 (RP10) [MIM:180105]		2
P20849	1297		<li>S->P at 339: in dbSNP rsrs592121</li><li>Q->R at 621: in dbSNP rsrs1135056</li><li>K->R at 870: in dbSNP:rs1056921</li><li>L->V at 882: in dbSNP:rs1056923</li>									<li>rs1056921</li><li>rs1135056</li><li>rs592121</li><li>rs1056923</li>	2
P20851	725		<li>K->Q at 102: in dbSNP rsrs56258224</li><li>P->S at 198: in dbSNP:rs1803226</li>									<li>rs1803226</li><li>rs56258224</li>	2
P20853	1549		<li>F->I at 61: in dbSNP:rs10425176</li><li>C->R at 64: in dbSNP:rs10425169</li><li>H->R at 274: in dbSNP:rs4079366</li><li>A->G at 301: in dbSNP:rs2545754</li><li>R->C at 311: in dbSNP:rs3869579</li><li>M->T at 368: in dbSNP:rs2261144</li>									<li>rs10425169</li><li>rs2545754</li><li>rs2261144</li><li>rs4079366</li><li>rs10425176</li><li>rs3869579</li>	2
P20908	1289		<li>G->S at 530: in EDS1, MIM: 130000</li><li>G->D at 1489: in EDS1, MIM: 130000</li><li>C->S at 1639: in EDS1, MIM: 130000</li>								Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]		2
P20929			<li>T->A at 146: in dbSNP:rs4077109</li><li>E->Q at 191: in dbSNP:rs35686968</li><li>K->N at 1027: in dbSNP:rs6735208</li><li>Y->H at 1301: in dbSNP:rs6711382</li><li>E->D at 1469: in dbSNP:rs34800215</li><li>V->I at 1479: in dbSNP:rs34577613</li><li>V->M at 1491: in dbSNP:rs7426114</li><li>Y->H at 1969: in dbSNP:rs34532796</li><li>K->N at 2613: in dbSNP:rs13013209</li><li>R->Q at 2773: in dbSNP:rs35974308</li><li>S->P at 2912: in dbSNP:rs6713162</li><li>V->G at 2952: in dbSNP:rs13024542</li><li>W->C at 3360: in dbSNP:rs10172023</li><li>S->T at 3887: in dbSNP:rs35227368</li><li>P->L at 4271: in dbSNP:rs4327235</li><li>N->S at 4337: in dbSNP:rs16830236</li><li>R->T at 4401: in dbSNP:rs2288210</li><li>D->V at 5030: in dbSNP:rs2288200</li><li>R->P at 5463: in dbSNP:rs16830171</li><li>G->E at 5934: in dbSNP:rs3732309</li>									<li>rs35227368</li><li>rs6711382</li><li>rs6713162</li><li>rs16830171</li><li>rs10172023</li><li>rs34532796</li><li>rs34577613</li><li>rs3732309</li><li>rs13024542</li><li>rs16830236</li><li>rs35686968</li><li>rs6735208</li><li>rs7426114</li><li>rs2288200</li><li>rs2288210</li><li>rs4327235</li><li>rs34800215</li><li>rs13013209</li><li>rs4077109</li><li>rs35974308</li>	2
P20930	2312		<li>S->L at 1184: in dbSNP:rs3120649</li><li>R->G at 1376: in dbSNP:rs11581433</li><li>R->C at 1437: in dbSNP:rs12750571</li><li>A->V at 1805: in dbSNP:rs12405241</li><li>H->Q at 1961: in dbSNP:rs3126079</li><li>I->T at 2022: in dbSNP:rs3120655</li><li>H->Q at 2507: in dbSNP:rs3126074</li><li>R->Q at 2540: in dbSNP:rs12407748</li><li>D->Y at 2781: in dbSNP:rs2065958</li><li>S->F at 3371: in dbSNP:rs3120647</li><li>S->P at 3396: in dbSNP:rs11584340</li><li>H->Y at 3415: in dbSNP:rs7512553</li><li>S->Y at 3427: in dbSNP:rs11204978</li><li>G->A at 3436: in dbSNP:rs2065955</li><li>H->Q at 3437: in dbSNP:rs12073613</li><li>R->C at 3490: in dbSNP:rs2184953</li><li>Q->R at 3512: in dbSNP:rs12407748</li><li>D->N at 3584: in dbSNP:rs3814300</li><li>S->F at 3695: in dbSNP:rs3120647</li><li>T->A at 3696: in dbSNP:rs2011331</li><li>S->P at 3720: in dbSNP:rs11584340</li><li>H->Y at 3739: in dbSNP:rs7512553</li><li>S->Y at 3751: in dbSNP:rs11204978</li><li>G->A at 3760: in dbSNP:rs2065955</li><li>H->Q at 3761: in dbSNP:rs12073613</li><li>R->C at 3814: in dbSNP:rs2184953</li><li>G->W at 3827: in dbSNP:rs12728908</li><li>D->N at 3908: in dbSNP:rs3814300</li><li>S->P at 3935: in dbSNP:rs3126065</li><li>S->L at 3970: in dbSNP:rs3814299</li>									<li>rs12073613</li><li>rs2065955</li><li>rs3814300</li><li>rs11204978</li><li>rs11581433</li><li>rs2065958</li><li>rs2011331</li><li>rs3814299</li><li>rs11584340</li><li>rs2184953</li><li>rs12407748</li><li>rs3126065</li><li>rs12750571</li><li>rs3126074</li><li>rs3126079</li><li>rs3120647</li><li>rs3120649</li><li>rs3120655</li><li>rs7512553</li><li>rs12405241</li><li>rs12728908</li>	2
P20933	175		<li>V->L at 12: in AGU; could be a polymorphism, MIM: 208400</li><li>G->D at 60: in AGU; German, MIM: 208400</li><li>S->P at 72: in AGU; Arab. Specifically prevents the proteolytic activation cleavage of AGA in the endoplasmic reticulum, MIM: 208400</li><li>G->E at 100: in AGU; Canadian, MIM: 208400</li><li>A->V at 101: in AGU; Italian, MIM: 208400</li><li>F->S at 135: in AGU; Canadian, MIM: 208400</li><li>S->T at 149: in dbSNP:rs2228119, MIM: 208400</li><li>R->Q at 161: in AGU; Finnish, MIM: 208400</li><li>C->S at 163: in AGU; Finnish. Most frequent mutation; >98% of Finnish AGU alleles, MIM: 208400</li><li>G->E at 252: in AGU; Finnish, MIM: 208400</li><li>G->R at 252: in AGU; Italian, MIM: 208400</li><li>T->I at 257: in AGU; Finnish, MIM: 208400</li><li>G->R at 302: in AGU; Turkish, MIM: 208400</li><li>C->R at 306: in AGU; American white, MIM: 208400</li>					endoplasmic reticulum	GO:0005783	<li>Q4R6C4</li><li>Q64191</li><li>P30918</li><li>Q21697</li><li>P20933</li><li>O02467</li><li>Q47898</li><li>P30919</li><li>P83451</li>	Aspartylglucosaminuria (AGU) [MIM:208400]	rs2228119	2
P20936	5921		<li>R->L at 398: in basal cell carcinomas</li><li>K->E at 400: in basal cell carcinomas</li><li>I->V at 401: in basal cell carcinomas</li><li>C->Y at 540: in CMAVM, MIM: 608354</li>								Capillary malformation-arteriovenous malformation (CMAVM) [MIM:608354]		2
P21108	221823		<li>E->D at 279: in dbSNP:rs3800962</li>									rs3800962	2
P21127	984		<li>R->C at 57: in dbSNP rsrs17424353</li><li>R->W at 201</li><li>S->L at 414</li><li>V->A at 452</li><li>I->V at 463</li><li>G->S at 506</li><li>L->Q at 601</li><li>K->N at 641</li><li>A->V at 670</li>									rs17424353	2
P21128	8909		<li>E->Q at 31: in dbSNP:rs6504</li><li>E->V at 31: in dbSNP:rs6505</li>									<li>rs6504</li><li>rs6505</li>	2
P21217	2525		<li>G->S at 5: in dbSNP:rs28362458</li><li>L->R at 20: in Le: in dbSNP rsrs28362459</li><li>W->R at 68: in Le: in dbSNP rsrs812936</li><li>Q->K at 102: in Le: in dbSNP rsrs59796499</li><li>T->M at 105: in Le: in dbSNP rsrs778986</li><li>S->A at 124: in Le</li><li>R->C at 160: in dbSNP:rs28362462</li><li>D->N at 162: in Le: in dbSNP rsrs28362463</li><li>G->S at 170: in Le: in dbSNP rsrs28362464</li><li>G->R at 223: in Le</li><li>V->M at 270: in Le</li><li>T->M at 325: in dbSNP:rs28381969</li><li>R->Q at 327: in dbSNP:rs28381970</li><li>D->A at 336: in Le</li><li>I->K at 356: in Le: in dbSNP rsrs3894326</li>									<li>rs28381969</li><li>rs3894326</li><li>rs778986</li><li>rs28362459</li><li>rs812936</li><li>rs28381970</li><li>rs28362458</li><li>rs28362464</li><li>rs59796499</li><li>rs28362462</li><li>rs28362463</li>	2
P21266	2947		<li>V->I at 224: in dbSNP:rs7483</li>									rs7483	2
P21291	1465		<li>K->I at 108: in dbSNP:rs3738283</li>									rs3738283	2
P21333	2316		<li>A->G at 39: in PVNH4, MIM: 300537</li><li>E->V at 82: in PVNH1; dbSNP:rs28935169, MIM: 300049</li><li>M->V at 102: in PVNH1, MIM: 300049</li><li>A->V at 128: in PVNH4, MIM: 300537</li><li>S->F at 149: in PVNH1, MIM: 300049</li><li>Q->P at 170: in OPD2, MIM: 304120</li><li>L->F at 172: in OPD1, MIM: 311300</li><li>R->G at 196: in OPD2, MIM: 304120</li><li>R->W at 196: in OPD1, MIM: 311300</li><li>A->S at 200: in OPD2, MIM: 304120</li><li>D->Y at 203: in OPD1, MIM: 311300</li><li>P->L at 207: in OPD1; dbSNP:rs28935469, MIM: 311300</li><li>E->K at 254: in OPD2; dbSNP:rs28935470, MIM: 304120</li><li>A->P at 273: in OPD2, MIM: 304120</li><li>V->A at 320: in dbSNP:rs1064816, MIM: 304120</li><li>F->L at 370: in dbSNP:rs1064817, MIM: 304120</li><li>V->M at 528: in PVNH1, MIM: 300049</li><li>V->A at 552: in dbSNP:rs730319, MIM: 300049</li><li>T->K at 555: in OPD2, MIM: 304120</li><li>L->F at 656: in PVNH1, MIM: 300049</li><li>S->L at 1012: in dbSNP:rs17091204, MIM: 300049</li><li>D->A at 1159: in FMD; dbSNP:rs28935471, MIM: 305620</li><li>D->E at 1184: in MNS, MIM: 309350</li><li>S->L at 1186: in FMD, MIM: 305620</li><li>A->T at 1188: in MNS; dbSNP:rs28935472, MIM: 309350</li><li>S->L at 1199: in MNS; dbSNP:rs28935473, MIM: 309350</li><li>A->G at 1419: in dbSNP:rs35504556, MIM: 309350</li><li>Missing  at 1620: in FMD, MIM: 309350</li><li>Missing  at 1635-1637: in otopalatodigital spectrum disorder, MIM: 309350</li><li>C->F at 1645: in OPD2, MIM: 304120</li><li>G->C at 1728: in FMD, MIM: 305620</li><li>A->T at 1764: in PVNH1, MIM: 300049</li>								<li>Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]</li><li>Melnick-Needles syndrome (MNS) [MIM:309350]</li><li>Frontometaphyseal dysplasia (FMD) [MIM:305620]</li><li>Periventricular nodular heterotopia type 4 (PVNH4) [MIM:300537]</li><li>Otopalatodigital syndrome type 1 (OPD1) [MIM:311300]</li><li>Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]</li>	<li>rs730319</li><li>rs35504556</li><li>rs17091204</li><li>rs28935469</li><li>rs1064816</li><li>rs28935473</li><li>rs28935472</li><li>rs28935471</li><li>rs28935470</li><li>rs1064817</li><li>rs28935169</li>	2
P21359	4763		<li>H->R at 31: in NF1, MIM: 162200</li><li>A->D at 74: in mismatch repair deficient cancer cells, MIM: 162200</li><li>Y->C at 80, MIM: 162200</li><li>Y->S at 80: in dbSNP:rs4795581, MIM: 162200</li><li>S->F at 82: in NF1, MIM: 162200</li><li>C->Y at 93: in NF1, MIM: 162200</li><li>I->S at 117: in NF1, MIM: 162200</li><li>L->P at 145: in NF1, MIM: 162200</li><li>I->N at 157: in NF1, MIM: 162200</li><li>D->E at 176: in mismatch repair deficient cancer cells; polymorphism, MIM: 162200</li><li>D->V at 186: in NF1; reduced splicing enhancement, MIM: 162200</li><li>L->R at 194: in NFNS, MIM: 601321</li><li>L->P at 216: in NF1, MIM: 162200</li><li>C->R at 324: in NF1, MIM: 162200</li><li>E->V at 337: in NF1, MIM: 162200</li><li>D->G at 338: in NF1, MIM: 162200</li><li>L->P at 357: in NF1, MIM: 162200</li><li>Y->C at 489: in NF1, MIM: 162200</li><li>Y->C at 491: in NF1, MIM: 162200</li><li>L->P at 508: in NF1, MIM: 162200</li><li>L->P at 532: in NF1, MIM: 162200</li><li>L->P at 549: in NF1, MIM: 162200</li><li>S->R at 574: in NF1, MIM: 162200</li><li>L->R at 578: in NF1, MIM: 162200</li><li>I->T at 581: in NF1, MIM: 162200</li><li>K->R at 583: in NF1, MIM: 162200</li><li>L->V at 604: in NF1, MIM: 162200</li><li>G->R at 629: in NF1, MIM: 162200</li><li>S->F at 665: in NF1; unknown pathological significance, MIM: 162200</li><li>P->L at 678: in dbSNP:rs17881753, MIM: 162200</li><li>L->P at 695: in NF1, MIM: 162200</li><li>H->R at 712: in mismatch repair deficient cancer cells, MIM: 162200</li><li>L->P at 763: in NF1, MIM: 162200</li><li>R->H at 765, MIM: 162200</li><li>W->S at 777: in NF1, MIM: 162200</li><li>T->K at 780: in NF1, MIM: 162200</li><li>H->P at 781: in NF1, MIM: 162200</li><li>W->C at 784: in NF1, MIM: 162200</li><li>W->R at 784: in NF1, MIM: 162200</li><li>L->F at 844: in NF1, MIM: 162200</li><li>L->P at 844: in NF1, MIM: 162200</li><li>L->R at 844: in NF1; sporadic, MIM: 162200</li><li>L->P at 847: in NF1, MIM: 162200</li><li>G->E at 848: in NF1, MIM: 162200</li><li>R->C at 873: in NF1, MIM: 162200</li><li>L->P at 898: in NF1; sporadic, MIM: 162200</li><li>L->P at 920: in NF1; patient with cafe-au-lait spots; may be a distinct form of NF1, MIM: 162200</li><li>M->R at 968: in NF1, MIM: 162200</li><li>Missing  at 991: in NF1, MIM: 162200</li><li>M->R at 1035: in NF1, MIM: 162200</li><li>M->V at 1073: in NF1, MIM: 162200</li><li>L->P at 1147: in NF1, MIM: 162200</li><li>N->S at 1156: in NF1, MIM: 162200</li><li>G->D at 1166: in NF1, MIM: 162200</li><li>L->I at 1187: in a colorectal cancer sample; somatic mutation, MIM: 162200</li><li>F->C at 1193: in NF1, MIM: 162200</li><li>L->R at 1196: in NF1, MIM: 162200</li><li>R->G at 1204: in NF1, MIM: 162200</li><li>R->W at 1204: in NF1, MIM: 162200</li><li>L->P at 1243: in NF1; with neurofibromatous neuropathy, MIM: 162200</li><li>R->P at 1250: in NF1, MIM: 162200</li><li>R->G at 1276: in NF1, MIM: 162200</li><li>R->P at 1276: in NF1; complete loss of GAP activity, MIM: 162200</li><li>R->Q at 1276: in NF1 and mismatch repair deficient cancer cells, MIM: 162200</li><li>R->S at 1412: in NF1; significant reduction of GAP activity, MIM: 162200</li><li>Y->H at 1422: in dbSNP:rs17884349, MIM: 162200</li><li>K->E at 1430: in NF1, MIM: 162200</li><li>K->Q at 1440: in NF1, MIM: 162200</li><li>K->R at 1440: in NF1, MIM: 162200</li><li>K->E at 1444: in NF1 and NFNS; significant reduction of intrinsic GAP activity, MIM: 162200</li><li>K->N at 1444: in NF1, MIM: 162200</li><li>K->R at 1444: in NF1, MIM: 162200</li><li>L->P at 1446: in NF1, MIM: 162200</li><li>N->T at 1451: in NFNS, MIM: 601321</li><li>V->L at 1453: in NFNS, MIM: 601321</li><li>Missing  at 1459: in NFNS, MIM: 601321</li><li>S->G at 1489: in NF1, MIM: 162200</li><li>I->V at 1605: in NF1, MIM: 162200</li><li>R->W at 1611: in NF1, MIM: 162200</li><li>L->LGHEQQKLPAAT at 1733: in NF1, MIM: 162200</li><li>A->S at 1785: in NF1, MIM: 162200</li><li>P->L at 1951: in a colorectal cancer sample; somatic mutation, MIM: 162200</li><li>W->R at 1952: in NF1, MIM: 162200</li><li>L->P at 1953: in NF1, MIM: 162200</li><li>Missing  at 1953: in NF1, MIM: 162200</li><li>G->R at 2001: in NF1, MIM: 162200</li><li>D->N at 2012: in NF1, MIM: 162200</li><li>L->P at 2088: in spinal NF; null mutation; 50% reduction of protein level; no cafe-au-lait macules, MIM: 162210</li><li>L->M at 2164: in NF1, MIM: 162200</li><li>Y->N at 2192: in NF1, MIM: 162200</li><li>P->A at 2221: in NF1, MIM: 162200</li><li>E->K at 2357: in NF1, MIM: 162200</li><li>Missing  at 2387-2388: in NF1, MIM: 162200</li><li>T->I at 2507: in NF1, MIM: 162200</li><li>V->L at 2511: in dbSNP rsrs2230850, MIM: 162200</li><li>T->A at 2631: in NF1, MIM: 162200</li><li>G->R at 2745: in a breast cancer sample; somatic mutation, MIM: 162200</li>	mismatch repair	GO:0006298					<li>Q92263</li><li>P20936</li><li>Q92211</li><li>P09851</li><li>Q5PEA9</li><li>P74873</li><li>P21359</li><li>P74851</li><li>P50904</li><li>P35608</li>	<li>Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321]</li><li>Familial spinal neurofibromatosis (spinal NF) [MIM:162210]</li><li>Type 1 neurofibromatosis (NF1) [MIM:162200]</li>	<li>rs4795581</li><li>rs17884349</li><li>rs2230850</li><li>rs17881753</li>	2
P21399	48		<li>A->D at 395: in dbSNP:rs3814519</li><li>G->R at 486: in dbSNP:rs34630459</li>									<li>rs34630459</li><li>rs3814519</li>	2
P21439	5244		<li>D->E at 87</li><li>P->S at 95</li><li>W->R at 138: in PFIC3, MIM: 602347</li><li>R->K at 150: in ICP, MIM: 147480</li><li>F->I at 165: in cholelithiasis, MIM: 600803</li><li>T->A at 175: in dbSNP rsrs58238559, MIM: 600803</li><li>L->V at 238: in dbSNP:rs45596335, MIM: 600803</li><li>I->V at 263: in dbSNP:rs45547936, MIM: 600803</li><li>M->T at 301: in cholelithiasis, MIM: 600803</li><li>S->F at 320: in ICP and cholelithiasis, MIM: 147480</li><li>S->I at 346: in PFIC3, MIM: 602347</li><li>I->V at 367, MIM: 602347</li><li>E->G at 395: in PFIC3, MIM: 602347</li><li>T->A at 424: in PFIC3, MIM: 602347</li><li>V->M at 425: in PFIC3, MIM: 602347</li><li>E->G at 450, MIM: 602347</li><li>E->D at 528: in dbSNP:rs45524431, MIM: 602347</li><li>G->D at 535: in PFIC3, MIM: 602347</li><li>I->F at 541: in PFIC3, MIM: 602347</li><li>A->D at 546: in ICP; disruption of protein trafficking with subsequent lack of functional protein at the cell surface, MIM: 147480</li><li>L->R at 556: in PFIC3, MIM: 602347</li><li>D->G at 564: in PFIC3, MIM: 602347</li><li>R->Q at 590: in dbSNP:rs45575636, MIM: 602347</li><li>L->Q at 591: in cholelithiasis, MIM: 600803</li><li>T->N at 651: in dbSNP:rs45476795, MIM: 600803</li><li>R->G at 652: in dbSNP:rs2230028, MIM: 600803</li><li>F->S at 711: in PFIC3, MIM: 602347</li><li>G->S at 742, MIM: 602347</li><li>G->E at 762: in ICP, MIM: 147480</li><li>I->L at 764: in a heterozygous patient with risperidone-induced cholestasis, MIM: 147480</li><li>T->M at 775, MIM: 147480</li><li>R->Q at 788, MIM: 147480</li><li>A->T at 934: in cholelithiasis, MIM: 600803</li><li>G->S at 983: in PFIC3: in dbSNP rsrs56187107, MIM: 602347</li><li>L->Q at 1082: in a heterozygous patient with amoxicillin/clavulanic acid-induced cholestasis, MIM: 602347</li><li>Missing  at 1161: in cholelithiasis, MIM: 602347</li><li>P->S at 1168: in cholelithiasis, MIM: 600803</li>					cell surface	GO:0009928,GO:0009986	P17237	<li>Cholelithiasis [MIM:600803]</li><li>Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]</li><li>Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]</li>	<li>rs56187107</li><li>rs45524431</li><li>rs45575636</li><li>rs45547936</li><li>rs58238559</li><li>rs2230028</li><li>rs45476795</li><li>rs45596335</li>	2
P21452			<li>I->T at 23: in dbSNP:rs5030920</li><li>R->H at 375: in dbSNP:rs2229170</li>									<li>rs2229170</li><li>rs5030920</li>	2
P21462	2357		<li>L->V at 101: in dbSNP rsrs2070745</li><li>N->K at 192: in dbSNP rsrs1042229</li><li>A->E at 346: in dbSNP rsrs867228</li>									<li>rs1042229</li><li>rs867228</li><li>rs2070745</li>	2
P21506	7556		<li>Q->R at 227: in dbSNP:rs11147259</li>									rs11147259	2
P21583	4254		<li>T->A at 54: in dbSNP:rs3741457</li><li>F->Y at 232: in dbSNP:rs12721563</li>									<li>rs3741457</li><li>rs12721563</li>	2
P21589	4907		<li>T->A at 376: in dbSNP:rs2229523</li><li>M->T at 379: in dbSNP:rs2229524</li>									<li>rs2229523</li><li>rs2229524</li>	2
P21695	2819		<li>I->V at 54: in dbSNP:rs2232202</li><li>A->P at 113: in dbSNP:rs1128867</li><li>V->A at 197: in dbSNP:rs2232207</li>									<li>rs2232207</li><li>rs2232202</li><li>rs1128867</li>	2
P21709	2041		<li>A->V at 160: in dbSNP:rs4725617</li><li>R->C at 351: in dbSNP rsrs56006153</li><li>R->Q at 492: in dbSNP:rs11768549</li><li>R->Q at 575: in dbSNP rsrs35719334</li><li>A->T at 585: in dbSNP rsrs34178823</li><li>P->L at 697: in dbSNP rsrs34372369</li><li>E->K at 703: in a breast pleomorphic lobular carcinoma sample; somatic mutation</li><li>S->R at 807: in dbSNP rsrs56244405</li><li>V->M at 900: in dbSNP:rs6967117</li>									<li>rs6967117</li><li>rs34372369</li><li>rs4725617</li><li>rs34178823</li><li>rs35719334</li><li>rs11768549</li><li>rs56244405</li><li>rs56006153</li>	2
P21728	1812		<li>T->P at 37: in dbSNP:rs5327</li><li>T->R at 37: in dbSNP:rs5328</li><li>R->S at 50: in dbSNP:rs5330</li><li>S->A at 199: in dbSNP:rs5331</li>									<li>rs5330</li><li>rs5331</li><li>rs5328</li><li>rs5327</li>	2
P21730	728		<li>N->D at 2: in dbSNP:rs4467185</li><li>N->K at 279: in dbSNP:rs11880097</li>									<li>rs11880097</li><li>rs4467185</li>	2
P21741	4192		<li>Missing  at 21-22: in 35% of the chains</li>										2
P21757	4481		<li>F->C at 23: in dbSNP rsrs35175081</li><li>T->I at 269: in dbSNP:rs13306543</li><li>P->A at 275: in dbSNP:rs3747531</li>									<li>rs3747531</li><li>rs13306543</li><li>rs35175081</li>	2
P21781	2252		<li>M->T at 59: in dbSNP:rs34531231</li>									rs34531231	2
P21802	2263		<li>R->P at 6: in dbSNP:rs3750819</li><li>S->L at 57: in dbSNP rsrs56226109</li><li>Y->C at 105: in CS, MIM: 123500</li><li>A->F at 172: in PS; requires 2 nucleotide substitutions, MIM: 101600</li><li>M->T at 186: in dbSNP:rs755793, MIM: 101600</li><li>R->C at 203: in breast cancer samples; infiltrating ductal carcinoma; somatic mutation, MIM: 101600</li><li>SP->FS at 252-253: in PS, MIM: 101600</li><li>S->F at 252: in APRS; requires 2 nucleotide substitutions, MIM: 101200</li><li>S->L at 252: in CS, MIM: 123500</li><li>S->W at 252: in APRS and PS; common mutation, MIM: 101600</li><li>P->R at 253: in APRS; common mutation, MIM: 101200</li><li>P->L at 263: in CS, MIM: 123500</li><li>S->P at 267: in CS, MIM: 123500</li><li>T->TG at 268: in CS, MIM: 123500</li><li>G->V at 272: in an ovarian serous carcinoma sample; somatic mutation, MIM: 123500</li><li>Missing  at 273: in PS; type 2, MIM: 123500</li><li>F->V at 276: in CS, MIM: 123500</li><li>C->F at 278: in CS, JWS and PS, MIM: 101600</li><li>C->Y at 278: in CS, MIM: 123500</li><li>Y->C at 281: in CS, MIM: 123500</li><li>D->N at 283: in a lung squamous cell carcinoma sample; somatic mutation, MIM: 123500</li><li>Missing  at 287-289: in CS, MIM: 123500</li><li>I->S at 288: in CS, MIM: 123500</li><li>Q->P at 289: in CS and JWS, MIM: 123150</li><li>W->C at 290: in PS; severe; also in a lung squamous cell carcinoma sample; somatic mutation, MIM: 101600</li><li>W->G at 290: in CS, MIM: 123500</li><li>W->R at 290: in CS, MIM: 123500</li><li>K->E at 292: in CS, MIM: 123500</li><li>Y->C at 301: in CS, MIM: 123500</li><li>A->S at 314: in craniosynostosis, MIM: 123500</li><li>A->S at 315: in a non-syndromic craniosynostosis patient with abnormal intrauterine history; confers predisposition to craniosynostosis, MIM: 123500</li><li>D->A at 321: in PS, MIM: 101600</li><li>Y->C at 328: in CS, MIM: 123500</li><li>N->I at 331: in CS, MIM: 123500</li><li>A->ANA at 337: in CS, MIM: 123500</li><li>A->P at 337: in CS, MIM: 123500</li><li>G->E at 338: in CS, MIM: 123500</li><li>G->R at 338: in CS, MIM: 123500</li><li>Y->C at 340: in PS, MIM: 101600</li><li>Y->H at 340: in CS, MIM: 123500</li><li>T->P at 341: in PS and CS, MIM: 101600</li><li>C->F at 342: in CS, MIM: 123500</li><li>C->G at 342: in PS, MIM: 101600</li><li>C->R at 342: in CS, JWS, PS and ABS, MIM: 101600</li><li>C->S at 342: in CS, JWS, PS and ABS, MIM: 101600</li><li>C->W at 342: in CS, MIM: 123500</li><li>C->Y at 342: in CS and PS, MIM: 101600</li><li>A->G at 344: in CS and JWS, MIM: 123150</li><li>A->P at 344: in CS and PS, MIM: 101600</li><li>S->C at 347: in CS, MIM: 123500</li><li>S->C at 351: in CS, PS and ABS, MIM: 101600</li><li>S->C at 354: in CS, MIM: 123500</li><li>S->Y at 354: in CS, MIM: 123500</li><li>Missing  at 356-358: in CS, MIM: 123500</li><li>V->F at 359: in CS and PS, MIM: 101600</li><li>A->S at 362: in CS, MIM: 123500</li><li>S->C at 372: in Beare-Stevenson cutis gyrata syndrome, MIM: 123790</li><li>Y->C at 375: in PS and Beare-Stevenson cutis gyrata syndrome, MIM: 101600</li><li>G->R at 384: in CS, MIM: 123500</li><li>K->E at 526: in FSPC, MIM: 609579</li><li>N->H at 549: in CS, MIM: 123500</li><li>E->G at 565: in PS, MIM: 101600</li><li>R->T at 612: in a lung adenocarcinoma sample; somatic mutation, MIM: 101600</li><li>G->R at 613, MIM: 101600</li><li>A->T at 628: in LADDS, MIM: 149730</li><li>K->R at 641: in PS, MIM: 101600</li><li>A->T at 648: in LADDS, MIM: 149730</li><li>RD->S at 649-650: in LADDS, MIM: 149730</li><li>K->N at 659: in craniosynostosis, MIM: 149730</li><li>G->E at 663: in PS, MIM: 101600</li><li>R->G at 678: in CS, MIM: 123500</li>							<li>Q8RYD9</li><li>Q9UJV9</li>	<li>Antley-Bixler syndrome (ABS) [MIM:207410]</li><li>Jackson-Weiss syndrome (JWS) [MIM:123150]</li><li>Apert syndrome (APRS) [MIM:101200]</li><li>Crouzon syndrome (CS) [MIM:123500]</li><li>Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]</li><li>Familial scaphocephaly syndrome (FSPC) [MIM:609579]</li><li>Beare-Stevenson cutis gyrata syndrome (BSCGS) [MIM:123790]</li><li>Pfeiffer syndrome (PS) [MIM:101600]</li>	<li>rs755793</li><li>rs56226109</li><li>rs3750819</li>	2
P21810	633		<li>R->T at 266: in a breast cancer sample; somatic mutation</li><li>K->N at 288: in a breast cancer sample; somatic mutation</li>										2
P21817	6261		<li>L->V at 13: in CCD; autosomal recessive form, MIM: 117000</li><li>C->R at 35: in MHS1, MIM: 145600</li><li>R->C at 44: in CCD and MHS1, MIM: 145600</li><li>R->W at 109: in MMDO, MIM: 255320</li><li>E->G at 160: in CCD, MIM: 117000</li><li>R->C at 163: in CCD and MHS1; 2-3% of the cases, MIM: 145600</li><li>R->L at 163: in MHS1; induces an increase sensitivity to caffeine, MIM: 145600</li><li>G->R at 165: in MHS1, MIM: 145600</li><li>D->N at 166: in MHS1, MIM: 145600</li><li>R->C at 177: in MHS1, MIM: 145600</li><li>Y->C at 178: in MHS1, MIM: 145600</li><li>G->E at 215: in CCD; autosomal recessive form, MIM: 117000</li><li>D->V at 227: in MHS1, MIM: 145600</li><li>G->R at 248: in MHS1; could be a polymorphism; dbSNP:rs1801086, MIM: 145600</li><li>A->T at 291: in dbSNP:rs2229140, MIM: 145600</li><li>R->W at 328: in MHS1; has increased sensitivity to both caffeine and halothane, MIM: 145600</li><li>G->R at 341: in MHS1; 10% of the cases; dbSNP:rs28933997, MIM: 145600</li><li>R->C at 401: in MHS1, MIM: 145600</li><li>R->H at 401: in MHS1, MIM: 145600</li><li>R->S at 401: in MHS1, MIM: 145600</li><li>I->M at 403: in CCD and MHS1, MIM: 145600</li><li>R->C at 471, MIM: 145600</li><li>M->V at 485, MIM: 145600</li><li>Y->S at 522: in CCD and MHS1, MIM: 145600</li><li>R->C at 533: in MHS1, MIM: 145600</li><li>R->H at 533: in MHS1, MIM: 145600</li><li>R->W at 552: in MHS1, MIM: 145600</li><li>R->C at 614: in CCD and MHS1; 3-5% of the cases: in dbSNP rsrs28933996, MIM: 145600</li><li>R->L at 614: in MHS1, MIM: 145600</li><li>R->K at 1109: in dbSNP:rs35719391, MIM: 145600</li><li>S->G at 1342: in dbSNP:rs34694816, MIM: 145600</li><li>S->N at 1489: in dbSNP:rs34404839, MIM: 145600</li><li>G->S at 1704: in CCD; autosomal recessive form, MIM: 117000</li><li>P->L at 1787: in dbSNP:rs34934920, MIM: 117000</li><li>G->A at 1832, MIM: 117000</li><li>G->C at 2060: in dbSNP:rs35364374, MIM: 117000</li><li>M->K at 2101, MIM: 117000</li><li>V->L at 2117: in MHS1, MIM: 145600</li><li>D->E at 2129: in MHS1, MIM: 145600</li><li>R->C at 2163: in MHS1: in dbSNP rsrs28933998, MIM: 145600</li><li>R->H at 2163: in CCD and MHS1: in dbSNP rsrs28933999, MIM: 145600</li><li>R->P at 2163: in MHS1, MIM: 145600</li><li>V->M at 2168: in CCD and MHS1; no difference in the thapsigargin-sensitive calcium stores of cells carrying this mutation and the wild-type, MIM: 145600</li><li>T->M at 2206: in MHS1; induces an increase sensitivity to caffeine: in dbSNP rsrs28934000, MIM: 145600</li><li>T->R at 2206: in MHS1, MIM: 145600</li><li>V->I at 2214: in MHS1, MIM: 145600</li><li>V->I at 2280: in MHS1, MIM: 145600</li><li>N->S at 2342: in MHS1, MIM: 145600</li><li>E->D at 2344: in MHS1; uncertain pathogenicity, MIM: 145600</li><li>V->M at 2346: in MHS1, MIM: 145600</li><li>Missing  at 2347: in MHS1, MIM: 145600</li><li>E->G at 2348: in MHS1, MIM: 145600</li><li>A->T at 2350: in MHS1; reveals an altered calcium dependence and increased caffeine sensitivity, MIM: 145600</li><li>R->C at 2355: in MHS1, MIM: 145600</li><li>A->T at 2367: in MHS1, MIM: 145600</li><li>A->P at 2421: in CCD; autosomal recessive form, MIM: 117000</li><li>M->K at 2423: in MMDO and CCD; autosomal recessive form, MIM: 255320</li><li>A->T at 2428: in MHS1; induces an increase sensitivity to caffeine, MIM: 145600</li><li>D->N at 2431: in MHS1, MIM: 145600</li><li>G->R at 2434: in MHS1, MIM: 145600</li><li>R->H at 2435: in CCD and MHS1: in dbSNP rsrs28933396, MIM: 145600</li><li>R->L at 2435: in MHS1, MIM: 145600</li><li>A->V at 2437: in MHS1, MIM: 145600</li><li>R->W at 2452: in MHS1, MIM: 145600</li><li>R->C at 2454: in MHS1; induces an increase sensitivity to caffeine, MIM: 145600</li><li>R->H at 2454: in CCD and MHS1; severe form; induces an increase sensitivity to caffeine, MIM: 145600</li><li>R->C at 2458: in MHS1: in dbSNP rsrs28933397, MIM: 145600</li><li>R->H at 2458: in MHS1, MIM: 145600</li><li>V->I at 2509: in dbSNP:rs2071088, MIM: 145600</li><li>R->W at 2676: in MHS1; located on the same allele as S-2787: in dbSNP rsrs28934001, MIM: 145600</li><li>E->K at 2779: in dbSNP:rs2915952, MIM: 145600</li><li>T->S at 2787: in MHS1; located on the same allele as W-2676; dbSNP:rs35180584, MIM: 145600</li><li>A->V at 3118: in dbSNP:rs2915960, MIM: 145600</li><li>P->S at 3527: in CCD; autosomal recessive form, MIM: 117000</li><li>R->H at 3539: in CCD; autosomal recessive form, MIM: 117000</li><li>Q->E at 3756: in dbSNP:rs4802584, MIM: 117000</li><li>R->Q at 3772: in CCD; autosomal recessive form, MIM: 117000</li><li>I->M at 3916: in MHS1, MIM: 145600</li><li>R->S at 4136: in MHS1, MIM: 145600</li><li>Missing  at 4214-4216: in CCD, MIM: 145600</li><li>V->L at 4234: in MHS1, MIM: 145600</li><li>R->Q at 4558: in CCD; autosomal recessive form, MIM: 117000</li><li>T->A at 4637: in CCD, MIM: 117000</li><li>T->I at 4637: in core/rod disease, MIM: 117000</li><li>G->D at 4638: in CCD, MIM: 117000</li><li>Missing  at 4647-4648: in CCD, MIM: 117000</li><li>L->P at 4650: in CCD; autosomal recessive form, MIM: 117000</li><li>H->P at 4651: in CCD, MIM: 117000</li><li>P->S at 4668, MIM: 117000</li><li>F->S at 4684: in MHS1, MIM: 145600</li><li>K->Q at 4724: in CCD; autosomal recessive form, MIM: 117000</li><li>R->Q at 4737: in MHS1, MIM: 145600</li><li>R->W at 4737: in MHS1, MIM: 145600</li><li>L->P at 4793: in CCD, MIM: 117000</li><li>Y->C at 4796: in CCD, MIM: 117000</li><li>L->F at 4814: in CCD, MIM: 117000</li><li>L->P at 4824: in MHS1, MIM: 145600</li><li>R->C at 4825: in CCD, MIM: 117000</li><li>T->I at 4826: in MHS1, MIM: 145600</li><li>L->V at 4838: in MHS1, MIM: 145600</li><li>V->M at 4842: in CCD; autosomal recessive form, MIM: 117000</li><li>A->V at 4846: in CCD; autosomal recessive form, MIM: 117000</li><li>V->I at 4849: in MHS1 and CCD; autosomal recessive form, MIM: 145600</li><li>Missing  at 4860: in CCD, MIM: 145600</li><li>R->C at 4861: in CCD, MIM: 117000</li><li>R->H at 4861: in CCD; release of calcium from intracellular stores in the absence of any pharmacological activator of RYR; smaller thapsigargin-sensitive intracellular calcium stores; normal sensitivity of the calcium release to the RYR inhibitor dantrolene, MIM: 117000</li><li>FYNKSED->Y at 4863-4869: in CCD, MIM: 117000</li><li>Y->C at 4864: in CCD, MIM: 117000</li><li>K->R at 4876: in MHS1, MIM: 145600</li><li>G->R at 4891: in CCD, MIM: 117000</li><li>R->Q at 4893: in CCD, MIM: 117000</li><li>R->W at 4893: in CCD; release of calcium from intracellular stores in the absence of any pharmacological activator of RYR; smaller thapsigargin-sensitive intracellular calcium stores; normal sensitivity of the calcium release to the RYR inhibitor dantrolene, MIM: 117000</li><li>G->V at 4897: in CCD, MIM: 117000</li><li>I->T at 4898: in CCD; severe phenotype; also present in some patients with MHS1; no response to the agonists halothane and caffeine, MIM: 117000</li><li>G->E at 4899: in CCD, MIM: 117000</li><li>G->R at 4899: in CCD; release of calcium from intracellular stores in the absence of any pharmacological activator of RYR; smaller thapsigargin-sensitive intracellular calcium stores; normal sensitivity of the calcium release to the RYR inhibitor dantrolene, MIM: 117000</li><li>A->V at 4906: in CCD, MIM: 117000</li><li>R->G at 4914: in CCD, MIM: 117000</li><li>R->T at 4914: in CCD, MIM: 117000</li><li>Missing  at 4927-4928: in CCD, MIM: 117000</li><li>I->M at 4938: in CCD, MIM: 117000</li><li>D->E at 4939: in MHS1, MIM: 145600</li><li>A->T at 4940: in CCD, MIM: 117000</li><li>G->V at 4942: in MHS1, MIM: 145600</li><li>P->L at 4973: in MHS1, MIM: 145600</li>					intracellular	GO:0005622		<li>Multiminicore disease with external ophthalmoplegia (MMDO) [MIM:255320]</li><li>Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]</li><li>Central core disease of muscle (CCD) [MIM:117000]</li>	<li>rs28933996</li><li>rs2915952</li><li>rs28933997</li><li>rs28933998</li><li>rs28933999</li><li>rs1801086</li><li>rs34934920</li><li>rs2915960</li><li>rs35719391</li><li>rs34694816</li><li>rs4802584</li><li>rs35180584</li><li>rs34404839</li><li>rs28933397</li><li>rs2229140</li><li>rs28933396</li><li>rs2071088</li><li>rs28934000</li><li>rs28934001</li><li>rs35364374</li>	2
P21854	971		<li>P->L at 234: in dbSNP:rs34791102</li>									rs34791102	2
P21860	2065		<li>S->Y at 20: in dbSNP rsrs34379766</li><li>P->L at 30: in dbSNP rsrs56017157</li><li>V->M at 104: in an ovarian mucinous carcinoma sample; somatic mutation</li><li>T->I at 204: in dbSNP rsrs56107455</li><li>N->S at 385: in dbSNP:rs12320176</li><li>R->W at 683: in dbSNP rsrs56387488</li><li>S->L at 717: in dbSNP rsrs35961836</li><li>I->T at 744: in dbSNP rsrs55787439</li><li>K->R at 998: in dbSNP rsrs56259600</li><li>S->C at 1119: in dbSNP:rs773123</li><li>R->H at 1127: in dbSNP:rs2271188</li><li>L->I at 1177: in dbSNP rsrs55699040</li><li>T->K at 1254: in dbSNP rsrs55709407</li><li>G->S at 1271: in dbSNP:rs11171743</li>									<li>rs55709407</li><li>rs56107455</li><li>rs55699040</li><li>rs34379766</li><li>rs56017157</li><li>rs35961836</li><li>rs56387488</li><li>rs55787439</li><li>rs11171743</li><li>rs12320176</li><li>rs2271188</li><li>rs56259600</li><li>rs773123</li>	2
P21912	6390		<li>A->G at 3: found in an individual with features of Cowden-like syndrome and absence of PTEN mutations; associated with increased manganese superoxide dismutase expression; associated with normal reactive oxygen species; associated with a 1.2-fold increase in AKT expression and 1.3-fold change in MAPK expression; dbSNP:rs11203289</li><li>A->AQ at 29: in pheochromocytoma</li><li>K->E at 40</li><li>A->P at 43: in pheochromocytoma, MIM: 171300</li><li>R->G at 46: in pheochromocytoma, MIM: 171300</li><li>R->Q at 46: in pheochromocytoma and PLG4, MIM: 171300</li><li>G->R at 53: in pheochromocytoma, MIM: 171300</li><li>L->H at 65: in pheochromocytoma, MIM: 171300</li><li>L->P at 65: in pheochromocytoma, MIM: 171300</li><li>L->S at 87: in pheochromocytoma, MIM: 171300</li><li>S->F at 100: in pheochromocytoma; absence of expression in tumor cells indicating complete loss of SDHB function, MIM: 171300</li><li>C->Y at 101: in pheochromocytoma, MIM: 171300</li><li>I->N at 127: in pheochromocytoma, MIM: 171300</li><li>P->R at 131: in PGL4, MIM: 171300</li><li>H->P at 132: in PLG4, MIM: 115310</li><li>S->P at 163: found in two individuals with features of Cowden-like syndrome and absence of PTEN mutations; associated with increased manganese superoxide dismutase function; associated with increased reactive oxygen species; associated with a 2.7-fold change in AKT expression and a 1.7-fold increase in MAPK expression; dbSNP:rs33927012, MIM: 115310</li><li>C->R at 192: in pheochromocytoma, MIM: 171300</li><li>C->Y at 196: in pheochromocytoma, MIM: 171300</li><li>P->R at 197: in PLG4, MIM: 115310</li><li>R->C at 230: in pheochromocytoma, MIM: 171300</li><li>R->H at 242: in familial malignant paraganglioma and pheochromocytoma, pheochromocytoma and PLG4, MIM: 171300</li>							<li>O42781</li><li>Q00859</li><li>P21912</li><li>P27638</li><li>P48932</li><li>P48933</li><li>P80480</li><li>P60483</li><li>P21801</li><li>P60484</li><li>O50258</li><li>Q3T189</li><li>P80477</li>	<li>Hereditary paragangliomas type 4 (PLG4) [MIM:115310]</li><li>Pheochromocytoma [MIM:171300]</li>	<li>rs33927012</li><li>rs11203289</li>	2
P21917	1815		<li>V->G at 194: in Afro-Caribbeans; dbSNP:rs1800443</li><li>Missing  at 265-344: in allele D4.2</li><li>Missing  at 281-328: in allele D4.4</li><li>P->A at 329: in allele D4.4</li><li>G->S at 332: in allele D4.4</li>									rs1800443	2
P21953	594		<li>T->I at 41: in dbSNP:rs35470366</li><li>R->P at 183: in MSUD1B; dbSNP:rs28934895, MIM: 248600</li><li>H->R at 206: in MSUD1B, MIM: 248600</li><li>G->S at 278: in MSUD1B, MIM: 248600</li>								Maple syrup urine disease type IB (MSUD1B) [MIM:248600]	<li>rs28934895</li><li>rs35470366</li>	2
P21964	1312		<li>C->S at 34: in dbSNP:rs6270</li><li>A->S at 72: correlated with reduced enzyme activity; could be a risk allele for schizophrenia; dbSNP:rs6267</li><li>A->T at 102: in dbSNP:rs5031015</li><li>A->V at 146: in dbSNP:rs4986871</li><li>V->M at 158: in allele COMT*2; associated with low enzyme activity and thermolability; may increase the tendency to develop high blood pressure and abdominal obesity; dbSNP:rs4680</li>							<li>O81646</li><li>Q43239</li><li>P46484</li><li>Q9SWC2</li><li>O23760</li><li>Q8LL87</li><li>P21964</li><li>Q9FQY8</li><li>Q06528</li><li>Q6ZD89</li><li>P28002</li><li>Q8GU25</li><li>Q8W013</li><li>Q06509</li><li>Q99028</li><li>O82054</li><li>Q43609</li>		<li>rs4986871</li><li>rs5031015</li><li>rs6267</li><li>rs4680</li><li>rs6270</li>	2
P21980	7052		<li>R->H at 76: in dbSNP:rs41274720</li><li>R->H at 214: in dbSNP:rs45530133</li><li>Q->R at 324: in dbSNP:rs45567334</li><li>M->R at 330: in early-onset diabetes type 2</li><li>I->N at 331: in early-onset diabetes type 2</li><li>R->W at 436: in dbSNP:rs45629036</li><li>P->S at 536: in dbSNP:rs45556333</li><li>G->V at 660: in a colorectal cancer sample; somatic mutation</li>									<li>rs45530133</li><li>rs45567334</li><li>rs45556333</li><li>rs45629036</li><li>rs41274720</li>	2
P22003	653		<li>H->Y at 2: in dbSNP:rs9475437</li>									rs9475437	2
P22004	654		<li>R->C at 257: in dbSNP:rs10458105</li><li>A->D at 343: in a colorectal cancer sample; somatic mutation</li><li>P->L at 476: in a colorectal cancer sample; somatic mutation</li>									rs10458105	2
P22033	4594		<li>I->V at 69</li><li>P->L at 86: in MMAM; mut0, MIM: 251000</li><li>G->E at 87: in MMAM; mut0, MIM: 251000</li><li>R->H at 93: in MMAM; mut0, MIM: 251000</li><li>G->R at 94: in MMAM; mut0, MIM: 251000</li><li>G->V at 94: in MMAM; mut- and mut0, MIM: 251000</li><li>P->R at 95: in MMAM; mut0, MIM: 251000</li><li>W->R at 105: in MMAM; mut0, MIM: 251000</li><li>R->C at 108: in MMAM; mut0, MIM: 251000</li><li>R->G at 108: in MMAM; mut-, MIM: 251000</li><li>R->H at 108: in MMAM; mut0, MIM: 251000</li><li>Q->R at 109: in MMAM; mut0, MIM: 251000</li><li>A->V at 137: in MMAM; mut0, MIM: 251000</li><li>G->S at 145: in MMAM; mut0, MIM: 251000</li><li>S->L at 148: in MMAM, MIM: 251000</li><li>D->N at 156: in MMAM; mut-, MIM: 251000</li><li>G->V at 158: in MMAM; mut0, MIM: 251000</li><li>F->S at 174: in MMAM; mut0, MIM: 251000</li><li>M->V at 186: in MMAM; mut-, MIM: 251000</li><li>N->K at 189: in MMAM; mut-, MIM: 251000</li><li>A->E at 191: in MMAM; mut- and mut0, MIM: 251000</li><li>A->E at 197: in MMAM; mut0, MIM: 251000</li><li>G->R at 203: in MMAM; mut0, MIM: 251000</li><li>G->C at 215: in MMAM; mut- and mut0, MIM: 251000</li><li>G->S at 215: in MMAM; mut0, MIM: 251000</li><li>Q->H at 218: in MMAM; mut0, MIM: 251000</li><li>N->Y at 219: in MMAM; mut0, MIM: 251000</li><li>R->Q at 228: in MMAM; mut0, MIM: 251000</li><li>T->I at 230: in MMAM; mut-, MIM: 251000</li><li>Y->N at 231: in MMAM; mut-, MIM: 251000</li><li>S->N at 262: in MMAM; mut0, MIM: 251000</li><li>H->Y at 265: in MMAM; mut-, MIM: 251000</li><li>L->S at 281: in MMAM; mut0, MIM: 251000</li><li>G->E at 291: in MMAM; mut0, MIM: 251000</li><li>Q->P at 293: in MMAM; mut0, MIM: 251000</li><li>L->S at 305: in MMAM; mut0, MIM: 251000</li><li>S->F at 306: in MMAM; mut0, MIM: 251000</li><li>G->V at 312: in MMAM; mut0, MIM: 251000</li><li>Y->C at 316: in MMAM; mut-, MIM: 251000</li><li>A->T at 324: in MMAM; mut-, MIM: 251000</li><li>L->F at 328: in MMAM; mut0, MIM: 251000</li><li>L->P at 328: in MMAM; mut0, MIM: 251000</li><li>Missing  at 346: in MMAM; mut0, MIM: 251000</li><li>L->R at 347: in MMAM; mut0, MIM: 251000</li><li>H->Y at 350: in MMAM; mut0, MIM: 251000</li><li>V->D at 368: in MMAM, MIM: 251000</li><li>R->C at 369: in MMAM; mut0, MIM: 251000</li><li>R->H at 369: in MMAM; mut- and mut0, MIM: 251000</li><li>T->P at 370: in MMAM; mut0, MIM: 251000</li><li>A->E at 377: in MMAM; mut0, MIM: 251000</li><li>Q->H at 383: in MMAM; mut0, MIM: 251000</li><li>Q->P at 383: in MMAM; mut0, MIM: 251000</li><li>H->N at 386: in MMAM; mut0, MIM: 251000</li><li>N->H at 388: in MMAM; mut0, MIM: 251000</li><li>Missing  at 389: in MMAM; mut0, MIM: 251000</li><li>Missing  at 412: in MMAM; mut0, MIM: 251000</li><li>G->R at 426: in MMAM; mut-, MIM: 251000</li><li>G->D at 427: in MMAM; mut0, MIM: 251000</li><li>A->T at 499: in dbSNP:rs2229385, MIM: 251000</li><li>L->P at 518: in MMAM; mut0, MIM: 251000</li><li>R->H at 532: in dbSNP:rs1141321, MIM: 251000</li><li>A->P at 535: in MMAM; mut0, MIM: 251000</li><li>C->Y at 560: in MMAM; mut0, MIM: 251000</li><li>T->R at 566: in MMAM; mut0, MIM: 251000</li><li>F->S at 573: in MMAM; mut-, MIM: 251000</li><li>Y->C at 587: in MMAM; mut-, MIM: 251000</li><li>T->A at 598: in dbSNP:rs9473556, MIM: 251000</li><li>P->R at 615: in MMAM; mut0, MIM: 251000</li><li>P->T at 615: in MMAM; mut0, MIM: 251000</li><li>R->C at 616: in MMAM; mut0, MIM: 251000</li><li>L->R at 617: in MMAM, MIM: 251000</li><li>K->N at 621: in MMAM; mut0, MIM: 251000</li><li>G->R at 623: in MMAM; mut0, MIM: 251000</li><li>Q->R at 624: in MMAM, MIM: 251000</li><li>G->C at 626: in MMAM; mut-, MIM: 251000</li><li>H->R at 627: in MMAM; mut0, MIM: 251000</li><li>G->E at 630: in MMAM; mut0, MIM: 251000</li><li>V->G at 633: in MMAM; mut-, MIM: 251000</li><li>G->E at 637: in MMAM; mut-, MIM: 251000</li><li>G->R at 637: in MMAM; mut0, MIM: 251000</li><li>F->I at 638: in MMAM; mut0, MIM: 251000</li><li>D->Y at 640: in MMAM; mut0, MIM: 251000</li><li>G->R at 642: in MMAM; mut-, MIM: 251000</li><li>G->D at 648: in MMAM; mut-, MIM: 251000</li><li>V->E at 669: in MMAM; mut0, MIM: 251000</li><li>V->I at 671: in dbSNP:rs8589, MIM: 251000</li><li>H->R at 678: in MMAM; mut-, MIM: 251000</li><li>E->EL at 684: in MMAM; mut-, MIM: 251000</li><li>L->R at 685: in MMAM; mut-, MIM: 251000</li><li>R->W at 694: in MMAM; mut- and mut0, MIM: 251000</li><li>M->K at 700: in MMAM; mut-, MIM: 251000</li><li>G->R at 703: in MMAM; mut0, MIM: 251000</li><li>G->V at 717: in MMAM; mut-; interfers with the binding of the cofactor to the apoenzyme, MIM: 251000</li>			binding	GO:0005488			P16332	Methylmalonic aciduria type mut (MMAM) [MIM:251000]	<li>rs9473556</li><li>rs2229385</li><li>rs8589</li><li>rs1141321</li>	2
P22059	5007		<li>D->A at 278: in a colorectal cancer sample; somatic mutation</li>										2
P22061	5110		<li>I->V at 120: in dbSNP:rs4816</li>									rs4816	2
P22079	4025		<li>T->I at 105: in dbSNP:rs8178318</li><li>A->T at 244: in dbSNP:rs8178338</li><li>R->Q at 414: in dbSNP:rs8178355</li><li>V->M at 421: in dbSNP:rs2301870</li><li>R->Q at 514: in dbSNP:rs8178401</li><li>I->T at 614: in dbSNP:rs8178408</li><li>D->N at 700: in dbSNP:rs8178412</li>									<li>rs8178401</li><li>rs8178318</li><li>rs8178408</li><li>rs2301870</li><li>rs8178412</li><li>rs8178355</li><li>rs8178338</li>	2
P22102	2618		<li>L->F at 21: in dbSNP:rs1804387</li><li>V->I at 421: in dbSNP:rs8788</li><li>D->G at 510: in dbSNP:rs35927582</li><li>P->A at 641: in dbSNP:rs34588874</li><li>D->G at 752: in dbSNP:rs8971</li>									<li>rs8788</li><li>rs8971</li><li>rs35927582</li><li>rs1804387</li><li>rs34588874</li>	2
P22105	7148		<li>R->W at 29: in EDS3</li><li>T->A at 302: in dbSNP:rs1150752</li><li>R->H at 511: in dbSNP:rs204896</li><li>V->M at 1195: in EDS3</li><li>H->R at 1248: in dbSNP:rs185819</li><li>P->H at 2363: in dbSNP:rs2269428</li><li>G->S at 2555: in dbSNP:rs2269429</li><li>E->G at 2578: in dbSNP:rs1009382</li><li>L->I at 4033</li>									<li>rs204896</li><li>rs1009382</li><li>rs1150752</li><li>rs185819</li><li>rs2269429</li><li>rs2269428</li>	2
P22223	1001		<li>V->M at 237: in dbSNP:rs17854171</li><li>N->I at 322: in EEM, MIM: 225280</li><li>R->H at 477: in dbSNP:rs34494880, MIM: 225280</li><li>R->H at 503: in HJMD, MIM: 601553</li><li>Q->H at 563: in dbSNP:rs1126933, MIM: 601553</li>								<li>Hypotrichosis with juvenile macular dystrophy (HJMD) [MIM:601553]</li><li>Ectodermal dysplasia with ectrodactyly and macular dystrophy (EEM) [MIM:225280]</li>	<li>rs1126933</li><li>rs17854171</li><li>rs34494880</li>	2
P22301	3586		<li>G->R at 15: in CD; decreases secretion thereby reducing the anti-inflammatory effect, MIM: 266600</li>	secretion	GO:0046903						Crohn disease (CD) [MIM:266600]		2
P22304	3423		<li>L->P at 41: in MPS2; mild form; increase in enzyme activity observed in transfected cells, MIM: 309900</li><li>Missing  at 41: in MPS2; intermediate form, MIM: 309900</li><li>D->N at 45: in MPS2, MIM: 309900</li><li>R->P at 48: in MPS2; mild form, MIM: 309900</li><li>Y->D at 54: in MPS2; severe form, MIM: 309900</li><li>N->D at 63: in MPS2; mild/intermediate form, MIM: 309900</li><li>A->E at 68: in MPS2; severe, MIM: 309900</li><li>S->N at 71: in MPS2; mild form, MIM: 309900</li><li>S->R at 71: in MPS2; severe form, MIM: 309900</li><li>L->F at 73: in MPS2; severe form, MIM: 309900</li><li>A->E at 79: in MPS2; mild form, MIM: 309900</li><li>A->E at 82: in MPS2, MIM: 309900</li><li>A->V at 82: in MPS2; no significant enzyme activity, MIM: 309900</li><li>A->S at 85: in MPS2; severe form, MIM: 309900</li><li>A->T at 85: in MPS2; mild to severe forms, MIM: 309900</li><li>P->L at 86: in MPS2; intermediate to severe forms, MIM: 309900</li><li>P->Q at 86: in MPS2, MIM: 309900</li><li>P->R at 86: in MPS2; severe form, MIM: 309900</li><li>S->N at 87: in MPS2; mild form, MIM: 309900</li><li>R->C at 88: in MPS2; severe form, MIM: 309900</li><li>R->G at 88: in MPS2; severe form, MIM: 309900</li><li>R->H at 88: in MPS2; intermediate/severe form; higher affinity for the artificial substrate; poor transport to lysosomes, MIM: 309900</li><li>R->L at 88: in MPS2; severe form, MIM: 309900</li><li>R->P at 88: in MPS2; severe form; total absence of residual activity; poor transport to lysosomes, MIM: 309900</li><li>V->F at 89: in MPS2, MIM: 309900</li><li>L->P at 92: in MPS2; severe form, MIM: 309900</li><li>G->D at 94: in MPS2; mild form, MIM: 309900</li><li>R->G at 95: in MPS2; intermediate form, MIM: 309900</li><li>R->T at 95: in MPS2; mild form, MIM: 309900</li><li>Missing  at 95: in MPS2; severe form, MIM: 309900</li><li>L->R at 102: in MPS2; mild form, MIM: 309900</li><li>Y->C at 108: in MPS2; mild form, MIM: 309900</li><li>Y->S at 108: in MPS2; mild form, MIM: 309900</li><li>N->Y at 115: in MPS2, MIM: 309900</li><li>S->Y at 117: in MPS2; severe form, MIM: 309900</li><li>Missing  at 117: in MPS2; severe form; deleterious mutation; results in an inactive enzyme, MIM: 309900</li><li>T->I at 118: in MPS2; mild to severe forms; greatly reduced activity; poor transport to lysosomes, MIM: 309900</li><li>Missing  at 118: in MPS2; severe form, MIM: 309900</li><li>P->H at 120: in MPS2; mild form, MIM: 309900</li><li>P->R at 120: in MPS2; severe form, MIM: 309900</li><li>Q->H at 121: in MPS2; severe form, MIM: 309900</li><li>Q->R at 121: in MPS2; severe form, MIM: 309900</li><li>E->V at 125: in MPS2; mild form, MIM: 309900</li><li>S->W at 132: in MPS2; severe form, MIM: 309900</li><li>G->R at 134: in MPS2; severe form, MIM: 309900</li><li>K->N at 135: in MPS2; intermediate form, MIM: 309900</li><li>K->R at 135: in MPS2; intermediate form: in dbSNP rsrs28937311, MIM: 309900</li><li>H->D at 138: in MPS2; mild/intermediate form, MIM: 309900</li><li>G->V at 140: in MPS2; no significant enzyme activity, MIM: 309900</li><li>S->F at 143: in MPS2, MIM: 309900</li><li>D->H at 148: in MPS2; intermediate form, MIM: 309900</li><li>H->P at 159: in MPS2; severe form, MIM: 309900</li><li>Missing  at 159: in MPS2; intermediate form, MIM: 309900</li><li>P->R at 160: in MPS2, MIM: 309900</li><li>N->I at 181: in MPS2; mild form, MIM: 309900</li><li>L->P at 182: in MPS2; intermediate form, MIM: 309900</li><li>C->F at 184: in MPS2; mild/intermediate form, MIM: 309900</li><li>C->W at 184: in MPS2, MIM: 309900</li><li>L->S at 196: in MPS2; mild/intermediate form, MIM: 309900</li><li>D->G at 198: in MPS2; mild form, MIM: 309900</li><li>A->P at 205: in MPS2; intermediate form, MIM: 309900</li><li>L->P at 221: in MPS2; intermediate form, MIM: 309900</li><li>G->E at 224: in MPS2; severe form, MIM: 309900</li><li>Y->D at 225: in MPS2; intermediate form, MIM: 309900</li><li>K->M at 227: in MPS2; intermediate form, MIM: 309900</li><li>K->Q at 227: in MPS2; severe form, MIM: 309900</li><li>P->L at 228: in MPS2, MIM: 309900</li><li>P->T at 228: in MPS2; severe form, MIM: 309900</li><li>H->R at 229: in MPS2; intermediate/severe form, MIM: 309900</li><li>H->Y at 229: in MPS2; severe form, MIM: 309900</li><li>P->L at 231: in MPS2; mild form, MIM: 309900</li><li>D->N at 252: in MPS2, MIM: 309900</li><li>L->P at 259: in MPS2; severe form, MIM: 309900</li><li>Y->N at 264: in MPS2, MIM: 309900</li><li>N->I at 265: in MPS2; intermediate form; deleterious mutation; residual activity of 7.5% of the wild-type, MIM: 309900</li><li>P->H at 266: in MPS2; mild form, MIM: 309900</li><li>P->R at 266: in MPS2, MIM: 309900</li><li>D->V at 269: in MPS2, MIM: 309900</li><li>Q->H at 293: in MPS2; mild form, MIM: 309900</li><li>S->I at 299: in MPS2; mild form, MIM: 309900</li><li>D->E at 308: in MPS2; mild form, MIM: 309900</li><li>D->N at 308: in MPS2; intermediate form, MIM: 309900</li><li>T->A at 309: in MPS2; severe form, MIM: 309900</li><li>R->C at 313: in MPS2; could be a polymorphism, MIM: 309900</li><li>L->P at 314: in MPS2; severe form, MIM: 309900</li><li>S->L at 333: in MPS2; severe form, MIM: 309900</li><li>D->G at 334: in MPS2; severe form, MIM: 309900</li><li>D->N at 334: in MPS2; mild form, MIM: 309900</li><li>H->R at 335: in MPS2; intermediate form, MIM: 309900</li><li>G->E at 336: in MPS2; severe from, MIM: 309900</li><li>G->R at 336: in MPS2; severe form, MIM: 309900</li><li>W->R at 337: in MPS2; intermediate form, MIM: 309900</li><li>L->R at 339: in MPS2; severe form, MIM: 309900</li><li>G->D at 340: in MPS2; mild form, MIM: 309900</li><li>E->K at 341: in MPS2; severe form, MIM: 309900</li><li>H->Y at 342: in MPS2; mild form, MIM: 309900</li><li>W->C at 345: in MPS2; mild form, MIM: 309900</li><li>A->D at 346: in MPS2; mild/severe form, MIM: 309900</li><li>A->V at 346: in MPS2; mild/severe form, MIM: 309900</li><li>K->I at 347: in MPS2, MIM: 309900</li><li>K->Q at 347: in MPS2; severe form, MIM: 309900</li><li>K->T at 347: in MPS2; severe form; deleterious mutation confirmed, MIM: 309900</li><li>Y->H at 348: in MPS2, MIM: 309900</li><li>S->I at 349: in MPS2; severe form, MIM: 309900</li><li>P->R at 358: in MPS2; severe form, MIM: 309900</li><li>L->R at 403: in MPS2; intermediate form, MIM: 309900</li><li>L->P at 410: in MPS2, MIM: 309900</li><li>C->G at 422: in MPS2; mild form: in dbSNP rsrs28937310, MIM: 309900</li><li>C->R at 422: in MPS2; severe form, MIM: 309900</li><li>C->Y at 432: in MPS2; severe form, MIM: 309900</li><li>E->K at 434: in MPS2, MIM: 309900</li><li>Q->P at 465: in MPS2; severe form, MIM: 309900</li><li>P->L at 467: in MPS2; severe form, MIM: 309900</li><li>R->G at 468: in MPS2; mild to severe forms, MIM: 309900</li><li>R->L at 468: in MPS2; mild to severe forms, MIM: 309900</li><li>R->Q at 468: in MPS2; severe/intermediate form; greatly reduced activity; poor transport to lysosomes, MIM: 309900</li><li>R->W at 468: in MPS2; mild to severe forms, MIM: 309900</li><li>P->H at 469: in MPS2; mild form, MIM: 309900</li><li>D->G at 478: in MPS2; mild form, MIM: 309900</li><li>D->Y at 478: in MPS2; severe form, MIM: 309900</li><li>P->L at 480: in MPS2; mild form, MIM: 309900</li><li>P->Q at 480: in MPS2; mild form, MIM: 309900</li><li>P->R at 480: in MPS2; severe form, MIM: 309900</li><li>I->K at 485: in MPS2, MIM: 309900</li><li>I->R at 485: in MPS2; severe form, MIM: 309900</li><li>MG->IA at 488-489: in MPS2; intermediate form; mutation A-489 confirmed as causative of MPS2, MIM: 309900</li><li>Y->S at 490: in MPS2; intermediate form, MIM: 309900</li><li>S->F at 491: in MPS2; mild form, MIM: 309900</li><li>W->C at 502: in MPS2; severe form, MIM: 309900</li><li>W->S at 502: in MPS2, MIM: 309900</li><li>E->K at 521: in MPS2; severe form, MIM: 309900</li><li>E->V at 521: in MPS2; severe form, MIM: 309900</li><li>Y->C at 523: in MPS2; mild form, MIM: 309900</li>	transport	GO:0006810			lysosomes	GO:0005764		Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	<li>rs28937311</li><li>rs28937310</li>	2
P22309	54658		<li>L->R at 15: in CN-II; mutant protein rapidly degraded by the proteasome owing to its mislocalization in the cell, MIM: 606785</li><li>P->Q at 34: in CN-II, MIM: 606785</li><li>H->D at 39: in CN-I, MIM: 218800</li><li>G->R at 71: in CN-II, Gilbert syndrome and transient familial neonatal hyperbilirubinemia; dbSNP:rs4148323, MIM: 237900</li><li>F->L at 83: in Gilbert syndrome: in dbSNP rsrs56059937, MIM: 143500</li><li>Missing  at 170: in CN-I and CN-II; has nearly normal activity at pH 7.6 and is inactive at pH 6.4, MIM: 143500</li><li>L->Q at 175: in CN-II, MIM: 606785</li><li>C->R at 177: in CN-I, MIM: 218800</li><li>R->W at 209: in CN-II, MIM: 606785</li><li>V->G at 225: in CN-II: in dbSNP rsrs35003977, MIM: 606785</li><li>P->Q at 229: in CN-II and Gilbert syndrome: in dbSNP rsrs35350960, MIM: 143500</li><li>G->R at 276: in CN-I, MIM: 218800</li><li>E->V at 291: in CN-I, MIM: 218800</li><li>A->V at 292: in CN-I, MIM: 218800</li><li>I->T at 294: in Gilbert syndrome and CN-II; 40-55% normal activity; normal Km for bilirubin; when homozygous far less repressive and generates the mild Gilbert phenotype, MIM: 143500</li><li>G->E at 308: in CN-I; no enzyme activity, MIM: 218800</li><li>Q->R at 331: in CN-II, MIM: 606785</li><li>R->L at 336: in CN-I and CN-II, MIM: 606785</li><li>R->Q at 336: in CN-I, MIM: 218800</li><li>R->W at 336: in CN-II, MIM: 606785</li><li>W->R at 354: in CN-II, MIM: 606785</li><li>Q->R at 357: in CN-I, MIM: 218800</li><li>R->G at 367: in Gilbert syndrome: in dbSNP rsrs55750087, MIM: 143500</li><li>A->T at 368: in CN-I, MIM: 218800</li><li>S->F at 375: in CN-I; no enzyme activity, MIM: 218800</li><li>H->R at 376: in CN-I and CN-II, MIM: 606785</li><li>G->V at 377: in CN-I and CN-II, MIM: 606785</li><li>S->R at 381: in CN-I, MIM: 218800</li><li>P->S at 387: in CN-I, MIM: 218800</li><li>G->V at 395: in CN-I, MIM: 218800</li><li>N->D at 400: in CN-II: in dbSNP rsrs28934877, MIM: 606785</li><li>A->P at 401: in CN-I, MIM: 218800</li><li>R->C at 403: in CN-II, MIM: 606785</li><li>K->E at 428: in CN-I, MIM: 218800</li><li>W->R at 461: in CN-I and CN-II, MIM: 606785</li><li>A->D at 478: in CN-II, MIM: 606785</li><li>Y->D at 486: in CN-II, Gilbert syndrome and transient familial neonatal hyperbilirubinemia: in dbSNP rsrs34993780, MIM: 237900</li><li>A->P at 511: in dbSNP:rs1042709, MIM: 237900</li>							Q9BXI3	<li>Crigler-Najjar syndrome type II (CN-II) [MIM:606785]</li><li>Transient familial neonatal hyperbilirubinemia [MIM:237900]</li><li>Gilbert syndrome [MIM:143500]</li><li>Crigler-Najjar syndrome type I (CN-I) [MIM:218800]</li>	<li>rs28934877</li><li>rs34993780</li><li>rs56059937</li><li>rs4148323</li><li>rs35350960</li><li>rs35003977</li><li>rs1042709</li><li>rs55750087</li>	2
P22310	54657		<li>P->T at 24: in dbSNP:rs6755571</li><li>L->P at 132: in Crigler-Najjar type II</li><li>I->F at 176: in dbSNP:rs45540231</li><li>Q->R at 332: in Crigler-Najjar type II</li><li>S->F at 376: in Crigler-Najjar type I</li><li>Y->D at 487: in Crigler-Najjar type II: in dbSNP rsrs34993780</li>									<li>rs34993780</li><li>rs6755571</li><li>rs45540231</li>	2
P22314	7317		<li>R->H at 447: in dbSNP:rs2070169</li><li>M->I at 539: in SMAX2, MIM: 301830</li><li>S->G at 547: in SMAX2, MIM: 301830</li>								Spinal muscular atrophy X-linked type 2 (SMAX2) [MIM:301830]	rs2070169	2
P22352	2878		<li>F->L at 128: in dbSNP:rs8177445</li>									rs8177445	2
P22413	5167		<li>L->P at 91: in OPLL, MIM: 602475</li><li>K->Q at 173: associated with NIDDM; dbSNP:rs1044498, MIM: 602475</li><li>N->S at 179: in dbSNP:rs2273411, MIM: 602475</li><li>Y->H at 268: in dbSNP:rs1805139, MIM: 602475</li><li>S->F at 287: in OPLL, MIM: 602475</li><li>G->V at 342: in IIAC, MIM: 208000</li><li>Y->F at 371: in IIAC, MIM: 208000</li><li>L->F at 579: in IIAC, MIM: 208000</li><li>R->C at 774: in IIAC; dbSNP:rs28933977, MIM: 208000</li><li>T->P at 779: in dbSNP:rs1805138, MIM: 208000</li><li>R->T at 886: in dbSNP:rs8192683, MIM: 208000</li>								<li>Increased susceptibility for ossification of the posterior longitudinal ligament of the spine (OPLL) [MIM:602475]</li><li>Idiopathic infantile arterial calcification (IIAC) [MIM:208000]</li>	<li>rs2273411</li><li>rs1805138</li><li>rs1805139</li><li>rs8192683</li>	2
P22455	2264		<li>V->I at 10: in dbSNP:rs1966265</li><li>P->L at 136: in dbSNP:rs376618</li><li>T->A at 179: in dbSNP rsrs55675160</li><li>G->R at 388: in dbSNP:rs351855</li><li>G->S at 426: in dbSNP rsrs55879131</li><li>D->N at 516: in dbSNP rsrs34158682</li><li>R->Q at 529: in dbSNP:rs34284947</li><li>V->M at 550: in breast pleomorphic lobular sample; somatic mutation</li><li>P->T at 712: in a lung adenocarcinoma sample; somatic mutation</li><li>S->N at 772: in a lung neuroendocrine carcinoma sample; somatic mutation</li>									<li>rs34158682</li><li>rs55675160</li><li>rs351855</li><li>rs55879131</li><li>rs1966265</li><li>rs34284947</li><li>rs376618</li>	2
P22460	3741	<ul><li>T->A at 15: Loss of DLG1 effect on channel current</li><li>I->N at 220: Reduces sumoylation; when associated with N-535</li><li>K->R at 221: Abolishes sumoylation; when associated with R-536</li><li>L->N at 535: Reduces sumoylation; when associated with N-220</li><li>K->R at 536: Abolishes sumoylation; when associated with R-221</li></ul>	<li>P->S at 228: in dbSNP:rs1056464</li><li>G->S at 300: in a breast cancer sample; somatic mutation</li><li>R->K at 578: in dbSNP:rs12720445</li>	sumoylation	GO:0016925					Q12959		<li>rs1056464</li><li>rs12720445</li>	3
P22466	51083		<li>A->V at 16: in dbSNP:rs34725707</li>									rs34725707	2
P22492	3010		<li>V->L at 14: in dbSNP:rs198844</li><li>L->F at 52: in dbSNP:rs2051542</li><li>Q->K at 178: in dbSNP:rs198845</li>									<li>rs198845</li><li>rs198844</li><li>rs2051542</li>	2
P22528	6699		<li>T->I at 11: in dbSNP:rs3795382</li><li>Q->H at 23: in clone 15B</li><li>V->L at 61: in clone 41D</li><li>A->P at 80: in clone 15B</li>									rs3795382	2
P22532	6703		<li>T->A at 20: in dbSNP:rs1846857</li>									rs1846857	2
P22557	212		<li>D->Y at 159: in XLSA, MIM: 301300</li><li>Y->H at 199: in XLSA, MIM: 301300</li><li>R->Q at 204: in XLSA; 15% to 35% activity of wild-type, MIM: 301300</li><li>T->S at 388: in XLSA, MIM: 301300</li><li>R->C at 411: in XLSA; 12% to 25% activity of wild-type, MIM: 301300</li><li>R->Q at 448: in XLSA, MIM: 301300</li><li>R->C at 452: in XLSA, MIM: 301300</li><li>I->N at 476: in XLSA, MIM: 301300</li><li>R->H at 560: in XLSA, MIM: 301300</li>								X-linked sideroblastic anemia (XLSA) [MIM:301300]		2
P22570	2232		<li>R->L at 7: in dbSNP rsrs28365947</li><li>R->Q at 123: in dbSNP:rs690514</li><li>G->V at 213: in dbSNP rsrs35692345</li><li>P->L at 248: in dbSNP rsrs35072974</li><li>R->W at 251: in dbSNP:rs34038065</li><li>R->C at 301: in dbSNP rsrs34118765</li><li>T->M at 345: in dbSNP:rs35660143</li><li>P->S at 352: in dbSNP rsrs35696549</li><li>T->A at 472: in dbSNP rsrs35769464</li>									<li>rs35769464</li><li>rs34118765</li><li>rs35072974</li><li>rs35660143</li><li>rs35692345</li><li>rs690514</li><li>rs28365947</li><li>rs34038065</li><li>rs35696549</li>	2
P22607	2261		<li>G->R at 65: in dbSNP:rs2305178</li><li>T->S at 79: in a lung adenocarcinoma sample; somatic mutation</li><li>C->R at 228: in a colorectal adenocarcinoma sample; somatic mutation</li><li>R->C at 248: in bladder cancer, PLSD-SD, keratinocytic non-epidermolytic nevus and TD; severe and lethal; also found as somatic mutation in one patient with multiple myeloma, MIM: 187600</li><li>S->C at 249: in bladder cancer, cervical cancer, PLSD-SD and TD; type 1, MIM: 187600</li><li>P->R at 250: in MNKS; also some individuals with autosomal dominant congenital sensorineural deafness without craniosynostosis; dbSNP:rs4647924, MIM: 602849</li><li>E->K at 322: in colorectal cancer, MIM: 602849</li><li>T->M at 338: in dbSNP rsrs56240927, MIM: 602849</li><li>G->C at 370: in bladder cancer, keratinocytic non-epidermolytic nevus and TD; type 1, MIM: 187600</li><li>S->C at 371: in TD; type 1, MIM: 187600</li><li>Y->C at 373: in PLSD-SD and TD; type 1, MIM: 187600</li><li>G->C at 375: in ACH, MIM: 100800</li><li>G->R at 380: in keratinocytic non-epidermolytic nevus and ACH; results in constitutive activation; very common mutation; dbSNP:rs28931614, MIM: 162900</li><li>F->L at 384: in dbSNP:rs17881656, MIM: 162900</li><li>A->E at 391: in CAN; dbSNP:rs28931615, MIM: 612247</li><li>A->T at 441: in dbSNP:rs17884368, MIM: 612247</li><li>D->N at 513: in LADDS, MIM: 149730</li><li>I->V at 538: in hypochondroplasia, MIM: 146000</li><li>N->K at 540: in hypochondroplasia: in dbSNP rsrs28933068, MIM: 146000</li><li>N->S at 540: in hypochondroplasia; mild, MIM: 146000</li><li>N->T at 540: in hypochondroplasia, MIM: 146000</li><li>R->H at 621: in CATSHL syndrome, MIM: 610474</li><li>D->N at 646: in dbSNP rsrs56266857, MIM: 610474</li><li>K->E at 650: in TD and bladder cancer samples; bladder transitional cell carcinoma; somatic mutation, MIM: 187600</li><li>K->M at 650: in ACH and TD; type 1, MIM: 187600</li><li>K->Q at 650: in hypochondroplasia and bladder cancer; in hypochondroplasia the form is milder than that seen in individuals with the K-540 or M-650 mutations, MIM: 146000</li><li>A->T at 717: in dbSNP:rs17882190, MIM: 146000</li><li>I->F at 726: in dbSNP:rs17880763, MIM: 146000</li>								<li>Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]</li><li>Bladder cancer [MIM:109800]</li><li>Hypochondroplasia (HCH) [MIM:146000]</li><li>Cervical cancer [MIM:603956]</li><li>Achondroplasia (ACH) [MIM:100800]</li><li>Crouzon syndrome with acanthosis nigricans (CAN) [MIM:612247]</li><li>Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]</li><li>Keratinocytic non-epidermolytic nevus [MIM:162900]</li><li>Thanatophoric dysplasia (TD) [MIM:187600, 187601]</li><li>Muenke syndrome (MNKS) [MIM:602849]</li><li>Platyspondylic lethal skeletal dysplasia Sand Diego type (PLSD-SD) [MIM:270230]</li>	<li>rs56240927</li><li>rs2305178</li><li>rs17884368</li><li>rs28931614</li><li>rs28931615</li><li>rs17880763</li><li>rs17881656</li><li>rs28933068</li><li>rs56266857</li><li>rs17882190</li><li>rs4647924</li>	2
P22612	5568		<li>I->N at 251: in dbSNP rsrs56287972</li><li>H->D at 268: in dbSNP:rs3730386</li>									<li>rs56287972</li><li>rs3730386</li>	2
P22674	10309		<li>L->M at 161: in dbSNP:rs13169396</li>									rs13169396	2
P22680	1581		<li>F->S at 100</li><li>N->S at 233: in dbSNP:rs8192874</li><li>D->N at 347</li>									rs8192874	2
P22692	3487		<li>V->G at 42: in dbSNP:rs599199</li>									rs599199	2
P22694	5567		<li>R->Q at 106: in dbSNP:rs36117118</li>									rs36117118	2
P22695	7385		<li>R->S at 148: in dbSNP:rs2228473</li><li>R->Q at 183: in dbSNP:rs4850</li><li>F->Y at 208: in a colorectal cancer sample; somatic mutation</li><li>R->H at 254: in dbSNP:rs11863893</li>									<li>rs11863893</li><li>rs4850</li><li>rs2228473</li>	2
P22735	7051		<li>S->Y at 42: in LI1: in dbSNP rsrs41295338, MIM: 242300</li><li>D->V at 102: in LI1, MIM: 242300</li><li>D->N at 132: in dbSNP:rs2229462, MIM: 242300</li><li>R->H at 142: in LI1, MIM: 242300</li><li>R->C at 143: in LI1 and NCIE, MIM: 242100</li><li>R->H at 143: in LI1, MIM: 242300</li><li>G->S at 218: in LI1, MIM: 242300</li><li>N->T at 289: in LI1, MIM: 242300</li><li>R->W at 307: in LI1, MIM: 242300</li><li>R->Q at 323: in LI1, MIM: 242300</li><li>V->L at 379: in LI1 and NCIE, MIM: 242100</li><li>R->H at 389: in NCIE, MIM: 242100</li><li>R->L at 396: in NCIE, MIM: 242100</li><li>V->M at 518: in dbSNP:rs35312232, MIM: 242100</li><li>R->C at 607: in dbSNP:rs2229464, MIM: 242100</li><li>S->L at 755: in dbSNP:rs35926651, MIM: 242100</li><li>D->V at 802: in dbSNP:rs2228337, MIM: 242100</li>								<li>Ichthyosis lamellar type 1 (LI1) [MIM:242300]</li><li>Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]</li>	<li>rs35926651</li><li>rs2228337</li><li>rs35312232</li><li>rs41295338</li><li>rs2229462</li><li>rs2229464</li>	2
P22749	10578		<li>T->I at 119: in dbSNP:rs11127</li>									rs11127	2
P22760	13		<li>I->V at 281: in dbSNP:rs1803155</li>									rs1803155	2
P22792	1370		<li>A->T at 305: in dbSNP:rs3732477</li><li>W->R at 509: in dbSNP:rs4974539</li><li>V->M at 536: in dbSNP:rs11711157</li>									<li>rs11711157</li><li>rs4974539</li><li>rs3732477</li>	2
P22891	8858		<li>E->K at 70: in dbSNP:rs3024778</li><li>R->H at 295: in dbSNP:rs3024772</li>									<li>rs3024772</li><li>rs3024778</li>	2
P22894	4317		<li>S->C at 3: in dbSNP:rs17099450</li><li>T->I at 32: in dbSNP:rs3765620</li><li>K->E at 87: in dbSNP:rs1940475</li><li>G->E at 154: in dbSNP rsrs35056226</li><li>D->V at 193: in dbSNP rsrs34428739</li><li>N->Y at 246: in dbSNP rsrs35243553</li><li>V->A at 436: in dbSNP rsrs34009635</li><li>K->T at 460: in dbSNP:rs35866072</li>									<li>rs35866072</li><li>rs35243553</li><li>rs1940475</li><li>rs3765620</li><li>rs35056226</li><li>rs34428739</li><li>rs34009635</li><li>rs17099450</li>	2
P22897	4360		<li>T->I at 167: in dbSNP:rs2296414</li>									rs2296414	2
P23025	7507		<li>Missing at 78</li><li>P->L at 94: in XP-A, MIM: 278700</li><li>V->I at 97: in dbSNP:rs10983315, MIM: 278700</li><li>C->F at 108: in XP-A; severe form, MIM: 278700</li><li>R->K at 130: in XP-A, MIM: 278700</li><li>Q->H at 185: in XP-A, MIM: 278700</li><li>R->Q at 228: in dbSNP:rs1805160, MIM: 278700</li><li>V->L at 234: in dbSNP:rs3176749, MIM: 278700</li><li>H->R at 244: in XP-A; mild form, MIM: 278700</li><li>L->V at 252: in dbSNP:rs3176750, MIM: 278700</li>								Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700]	<li>rs10983315</li><li>rs3176750</li><li>rs1805160</li><li>rs3176749</li>	2
P23109	270		<li>E->K at 22: in dbSNP:rs2273268</li><li>P->L at 48: polymorphism; activity comparable to wild-type</li><li>R->W at 388: in AMPDDM; loss of activity: in dbSNP rsrs35859650, MIM: 102770</li><li>R->H at 425: in AMPDDM; loss of activity, MIM: 102770</li><li>P->H at 633: in a colorectal cancer sample; somatic mutation, MIM: 102770</li>								Adenosine monophosphate deaminase deficiency muscle type (AMPDDM) [MIM:102770]	<li>rs2273268</li><li>rs35859650</li>	2
P23142	2192		<li>Q->R at 141: in dbSNP:rs136730</li>									rs136730	2
P23258	7283		<li>M->V at 413: in dbSNP:rs13663</li>									rs13663	2
P23280	765		<li>Q->L at 37: in dbSNP:rs34265054</li><li>T->M at 55: in dbSNP:rs2274327</li><li>M->L at 68: in dbSNP:rs2274328</li><li>G->A at 70: in dbSNP:rs2274329</li><li>S->G at 90: in dbSNP:rs2274333</li>									<li>rs2274329</li><li>rs34265054</li><li>rs2274327</li><li>rs2274328</li><li>rs2274333</li>	2
P23284	5479		<li>V->L at 60: in dbSNP:rs11558595</li>									rs11558595	2
P23327	3270		<li>S->N at 43: in dbSNP:rs3745298</li><li>S->A at 96: in dbSNP:rs3745297</li><li>Missing at 204</li>									<li>rs3745298</li><li>rs3745297</li>	2
P23352	3730		<li>C->Y at 163: in KAL1, MIM: 308700</li><li>Missing  at 163: in KAL1, MIM: 308700</li><li>C->R at 172: in KAL1, MIM: 308700</li><li>R->P at 262: in KAL1, MIM: 308700</li><li>N->K at 267: in KAL1; loss of effect on the migratory activity of GnRH neurons, MIM: 308700</li><li>N->S at 304: in KAL1, MIM: 308700</li><li>S->L at 396: in KAL1, MIM: 308700</li><li>E->K at 514: in KAL1; loss of effect on the migratory activity of GnRH neurons: in dbSNP rsrs28937309, MIM: 308700</li><li>F->L at 517: in KAL1; loss of effect on the migratory activity of GnRH neurons, MIM: 308700</li><li>V->I at 534: in dbSNP:rs808119, MIM: 308700</li><li>W->R at 571: in KAL1, MIM: 308700</li><li>K->M at 666, MIM: 308700</li><li>R->H at 668, MIM: 308700</li>							<li>Q90369</li><li>P33005</li><li>P23352</li><li>P27429</li>	Kallmann syndrome type 1 (KAL1) [MIM:308700]	<li>rs28937309</li><li>rs808119</li>	2
P23378			<li>A->P at 283: in NKH, MIM: 605899</li><li>P->T at 329: in one non-ketotic hyperglycinemia patient, MIM: 605899</li><li>R->S at 515: in NKH, MIM: 605899</li><li>S->I at 564: in NKH; common mutation in Finland, MIM: 605899</li><li>Missing  at 756: in NKH, MIM: 605899</li>								Non-ketotic hyperglycinemia (NKH) [MIM:605899]		2
P23381	7453		<li>A->S at 54: in dbSNP:rs2234521</li><li>E->D at 455: in a breast cancer sample; somatic mutation</li>									rs2234521	2
P23409	4618		<li>A->D at 90: in ADCNM, MIM: 160150</li><li>A->S at 112: in ADCNM; also identified in a Becker muscular dystrophy patient; dbSNP:rs28928909, MIM: 160150</li>								Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	rs28928909	2
P23415	2741		<li>I->N at 272: in STHE, MIM: 149400</li><li>P->T at 278: in STHE, MIM: 149400</li><li>R->H at 280: in STHE, MIM: 149400</li><li>Q->H at 294: in STHE, MIM: 149400</li><li>R->L at 299: in STHE; decreased potency of glycine to activate the channel, MIM: 149400</li><li>R->Q at 299: in STHE; decreased potency of glycine to activate the channel, MIM: 149400</li><li>K->E at 304: in STHE, MIM: 149400</li><li>Y->C at 307: in STHE, MIM: 149400</li><li>R->H at 428: in STHE, MIM: 149400</li>								Startle disease (STHE) [MIM:149400]		2
P23434	2653		<li>L->S at 21: in dbSNP:rs8052579</li><li>N->S at 73: in dbSNP:rs8177877</li>									<li>rs8177877</li><li>rs8052579</li>	2
P23443	6198		<li>M->I at 225</li><li>R->C at 272</li><li>W->C at 276</li><li>G->E at 289: in a colorectal cancer sample; somatic mutation</li><li>S->A at 398</li>										2
P23458	3716		<li>N->K at 973: in dbSNP rsrs34680086</li>									rs34680086	2
P23470			<li>G->S at 574: in dbSNP:rs2292245</li><li>Q->R at 639: in dbSNP:rs9870460</li>									<li>rs2292245</li><li>rs9870460</li>	2
P23471	5803		<li>I->S at 3: in dbSNP:rs740965</li><li>R->L at 6: in dbSNP:rs11980387</li><li>G->D at 1433: in dbSNP:rs1147504</li>									<li>rs1147504</li><li>rs740965</li><li>rs11980387</li>	2
P23490	4014		<li>S->G at 29: in dbSNP:rs6661601</li>									rs6661601	2
P23497	6672		<li>M->V at 433: in HeLa cells; dbSNP:rs12724</li><li>S->P at 471: in HeLa cells</li><li>E->G at 699: in dbSNP:rs34700604</li>									<li>rs12724</li><li>rs34700604</li>	2
P23508	4163		<li>R->K at 190: in dbSNP:rs6594681</li><li>R->L at 267: in colorectal cancer</li><li>P->L at 486: in colorectal cancer; dbSNP:rs35269015</li><li>S->L at 490: in colorectal cancer</li><li>R->Q at 506: in colorectal cancer</li><li>A->V at 698: in colorectal cancer</li><li>S->C at 751: in dbSNP:rs17313892</li>									<li>rs17313892</li><li>rs6594681</li><li>rs35269015</li>	2
P23515	4974		<li>G->D at 21: in dbSNP:rs11080149</li><li>V->A at 435: in dbSNP:rs16972169</li>									<li>rs16972169</li><li>rs11080149</li>	2
P23526	191		<li>R->W at 38: in dbSNP:rs13043752</li><li>D->N at 86</li>									rs13043752	2
P23582	4880		<li>R->Q at 82: in dbSNP:rs5267</li>									rs5267	2
P23743	1606		<li>H->Y at 538: in dbSNP:rs17852990</li>									rs17852990	2
P23760	5077		<li>F->L at 45: in WS1, MIM: 193500</li><li>N->H at 47: in WS3, MIM: 148820</li><li>N->K at 47: in CDHS, MIM: 122880</li><li>G->R at 48: in WS1, MIM: 193500</li><li>P->L at 50: in WS1; important hearing loss, MIM: 193500</li><li>R->L at 56: in WS1; associated with meningomyelocele, MIM: 193500</li><li>I->F at 59: in WS1, MIM: 193500</li><li>I->N at 59: in WS1, MIM: 193500</li><li>V->M at 60: in WS1, MIM: 193500</li><li>M->V at 62: in WS1, MIM: 193500</li><li>Missing  at 63-67: in WS1, MIM: 193500</li><li>S->L at 73: in WS1, MIM: 193500</li><li>V->M at 78: in WS1, MIM: 193500</li><li>G->A at 81: in WS1; originally classified as Waardenburg syndrome type 2, MIM: 193500</li><li>S->F at 84: in WS3, MIM: 148820</li><li>K->E at 85: in WS1, MIM: 193500</li><li>Y->H at 90: in WS3: in dbSNP rsrs28939096, MIM: 148820</li><li>G->D at 99: in WS1, MIM: 193500</li><li>F->S at 238: in WS1, MIM: 193500</li><li>V->F at 265: in WS1, MIM: 193500</li><li>W->C at 266: in WS1, MIM: 193500</li><li>R->C at 270: in WS1 and WS3, MIM: 148820</li><li>R->C at 271: in WS1, MIM: 193500</li><li>R->G at 271: in WS1, MIM: 193500</li><li>R->H at 271: in WS1; associated with Lys-273 in one family, MIM: 193500</li><li>R->K at 273: associated with His-271 in one Waardenburg syndrome type I family, MIM: 193500</li><li>T->K at 315: in dbSNP:rs2234675, MIM: 193500</li><li>Q->H at 391: in WS1, MIM: 193500</li>	hearing	GO:0007605					<li>P23630</li><li>P13345</li><li>P05821</li><li>Q9T1X2</li><li>P13344</li><li>P10099</li><li>P15176</li><li>O00399</li><li>P51728</li><li>Q03709</li>	<li>Waardenburg syndrome type 1 (WS1) [MIM:193500]</li><li>Craniofacial-deafness-hand syndrome (CDHS) [MIM:122880]</li><li>Waardenburg syndrome type 3 (WS3) [MIM:148820]</li>	<li>rs2234675</li><li>rs28939096</li>	2
P23771	2625		<li>G->S at 242: in dbSNP:rs11567901</li><li>W->R at 274: in HDR, MIM: 146255</li><li>R->L at 366: in a breast cancer sample; somatic mutation, MIM: 146255</li>								Hypoparathyroidism with sensorineural deafness and renal dysplasia (HDR) [MIM:146255]	rs11567901	2
P23786	1376		<li>P->H at 50: in CPT-II deficiency; muscular type; dbSNP:rs28936674: in dbSNP rsrs28936375, MIM: 608836</li><li>S->L at 113: in CPT-II deficiency; muscular form. Frequent mutation, may be a polymorphism as it found in some 'normal' cDNA seqeuences, MIM: 608836</li><li>R->Q at 151: in CPT-II deficiency, MIM: 608836</li><li>E->K at 174: in CPT-II deficiency; muscular type: in dbSNP rsrs28936674, MIM: 608836</li><li>Y->D at 210: in CPT-II deficiency, MIM: 608836</li><li>D->G at 213: in CPT-II deficiency, MIM: 608836</li><li>M->T at 214: in CPT-II deficiency, MIM: 608836</li><li>P->L at 227: in CPT-II deficiency, MIM: 608836</li><li>R->Q at 296: in CPT-II deficiency, MIM: 608836</li><li>F->C at 352: in dbSNP:rs2229291, MIM: 608836</li><li>V->I at 368: common polymorphism; dbSNP:rs1799821, MIM: 608836</li><li>F->Y at 383: in CPT-II deficiency; hepatocardiomuscular form; dbSNP:rs28936673, MIM: 608836</li><li>F->L at 448: in CPT-II deficiency, MIM: 608836</li><li>Y->F at 479: in CPT-II deficiency, MIM: 608836</li><li>R->C at 503: in CPT-II deficiency, MIM: 608836</li><li>G->D at 549: in CPT-II deficiency, MIM: 608836</li><li>Q->R at 550: in CPT-II deficiency, MIM: 608836</li><li>D->N at 553: in CPT-II deficiency: in dbSNP rsrs28936376, MIM: 608836</li><li>S->C at 588: in dbSNP:rs1871748, MIM: 608836</li><li>G->R at 600: in CPT-II deficiency, MIM: 608836</li><li>P->S at 604: in CPT-II deficiency, MIM: 608836</li><li>Y->S at 628: in CPT-II deficiency; hepatocardiomuscular form: in dbSNP rsrs28936673, MIM: 608836</li><li>R->C at 631: in CPT-II deficiency; early-onset hepatocardiomuscular form, MIM: 608836</li><li>M->V at 647: common polymorphism; dbSNP:rs1799822, MIM: 608836</li>							<li>Q60HG9</li><li>P23786</li><li>P18886</li><li>Q2KJB7</li><li>P52825</li>	<li>Carnitine palmitoyltransferase II deficiency (CPT-II deficiency) [MIM:255110, 600649]</li><li>Lethal neonatal carnitine palmitoyltransferase II deficiency (CPT-II deficiency) [MIM:608836]</li>	<li>rs1871748</li><li>rs2229291</li><li>rs28936673</li><li>rs28936674</li><li>rs1799822</li><li>rs1799821</li><li>rs28936375</li><li>rs28936376</li>	2
P23921	6240		<li>K->Q at 590: in dbSNP:rs2228123</li><li>V->A at 778: in dbSNP:rs2229196</li>									<li>rs2228123</li><li>rs2229196</li>	2
P23942	5961		<li>R->W at 13: in RP7; in combination with a null mutation of ROM1, MIM: 608133</li><li>I->V at 32: in some patients with macular dystrophy, MIM: 608133</li><li>L->F at 45: in RP7; in combination with a null mutation of ROM1, MIM: 608133</li><li>Missing  at 67: in PDREP; also in cone-rod dystrophy, MIM: 608133</li><li>G->R at 68: in PDREP; also in cone-rod dystrophy, MIM: 169150</li><li>Missing  at 118: in RP7, MIM: 169150</li><li>L->R at 126: in RP7, MIM: 608133</li><li>R->W at 142: in a patient with central areolar choroidal dystrophy, MIM: 608133</li><li>K->R at 153: in RP7, MIM: 608133</li><li>Missing  at 153: in RP7, MIM: 608133</li><li>D->N at 157: in PDREP, MIM: 169150</li><li>C->Y at 165: in RP7, MIM: 608133</li><li>G->D at 167: in PDREP; butterfly-shaped, MIM: 169150</li><li>G->S at 167: in PDREP; butterfly-shaped, MIM: 169150</li><li>Missing  at 169: in some patients with macular dystrophy, MIM: 169150</li><li>R->G at 172: in PDREP; butterfly-shaped, MIM: 169150</li><li>R->Q at 172: in some patients with macular dystrophy, MIM: 169150</li><li>R->W at 172: in some patients with macular dystrophy; also in a family affected by central areolar choroidal dystrophy, MIM: 169150</li><li>D->V at 173: in RP7, MIM: 608133</li><li>Y->S at 184: in cone-rod dystrophy, MIM: 608133</li><li>L->P at 185: in RP7; in combination with a null mutation of ROM1, MIM: 608133</li><li>Missing  at 193: in PDREP; also in cone-rod dystrophy, MIM: 608133</li><li>R->L at 195: in CCAD, MIM: 608133</li><li>G->D at 208: in RP7, MIM: 608133</li><li>P->R at 210: in PDREP and RP7; also in adult-onset foveomacular dystrophy with choroidal neovascularization, MIM: 608133</li><li>P->S at 210: in RP7, MIM: 608133</li><li>F->L at 211: in RP7, MIM: 608133</li><li>S->G at 212: in RP7, MIM: 608133</li><li>S->T at 212: in AVMD, MIM: 608161</li><li>C->R at 213: in PDREP, MIM: 169150</li><li>C->S at 214: in RP7, MIM: 608133</li><li>P->L at 216: in RP7, MIM: 608133</li><li>P->S at 216: in RP7, MIM: 608133</li><li>P->R at 219: in some patients with macular dystrophy, MIM: 608133</li><li>Missing  at 219: in RP7, MIM: 608133</li><li>R->Q at 220: in PDREP, MIM: 169150</li><li>R->W at 220: in PDREP, MIM: 169150</li><li>N->H at 244: in cone-rod dystrophy, MIM: 169150</li><li>N->K at 244: in RP7; with bulls-eye maculopathy, MIM: 608133</li><li>G->D at 266: in RP7, MIM: 608133</li><li>V->I at 268: in AVMD, MIM: 608161</li><li>E->Q at 304: associated with D-338 on the same haplotype: in dbSNP rsrs390659, MIM: 608161</li><li>G->D at 305: in AVMD, MIM: 608161</li><li>K->R at 310: in dbSNP rsrs425876, MIM: 608161</li><li>P->L at 313, MIM: 608161</li><li>G->D at 338: associated with Q-304 on the same haplotype: in dbSNP rsrs434102, MIM: 608161</li>							<li>P52205</li><li>P53046</li><li>Q695U0</li><li>Q03395</li>	<li>Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]</li><li>Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]</li><li>Retinitis pigmentosa type 7 (RP7) [MIM:608133]</li>	<li>rs425876</li><li>rs434102</li><li>rs390659</li>	2
P23945	2492		<li>S->Y at 128: in OHSS; displays increase in affinity and sensitivity toward hCG and does not show any constitutive activity nor promiscuous activation by TSH, MIM: 608115</li><li>I->T at 160: in ODG1; impairs cell surface expression, MIM: 233300</li><li>A->V at 189: in ODG1; very frequent in the Finnish population, MIM: 233300</li><li>D->V at 224: in ODG1; FSH binding is barely detectable; impaired targeting to the cell membrane; adenylate cyclase stimulation by FSH is 4 +-2% residual activity, MIM: 233300</li><li>T->A at 307: in dbSNP:rs6165, MIM: 233300</li><li>P->R at 348: in ODG1, MIM: 233300</li><li>A->T at 419: in ODG1, MIM: 233300</li><li>T->A at 449: in OHSS; increase of receptor sensitivity to both hCG and TSH together with an increase in basal activity, MIM: 608115</li><li>T->I at 449: in OHSS; dbSNP:rs28928870, MIM: 608115</li><li>P->T at 519: in ODG1; totally impairs adenylate cyclase stimulation in vitro; alters the cell surface targeting of the receptor which remains trapped intracellularly, MIM: 233300</li><li>S->R at 524: in dbSNP:rs6167, MIM: 233300</li><li>I->T at 545: in OHSS; displays promiscuous activation by both hCG and TSH together with detectable constitutive activity, MIM: 608115</li><li>D->G at 567: in FSHR activation; 1.5-fold increase in basal cAMP production compared to the wild-type receptor indicating that this mutation leads to ligand-independent constitutive activation, MIM: 608115</li><li>D->N at 567: in OHSS; dbSNP:rs28928871, MIM: 608115</li><li>R->C at 573: in ODG1; alters signal transduction of the receptor; adenylate cyclase stimulation by FSH is 24 +-4% residual activity, MIM: 233300</li><li>F->S at 591: in ovarian sex cord tumor; loss of function, MIM: 233300</li><li>L->V at 601: in ODG1; binds FSH with a similar affinity than the wild-type receptor; adenylate cyclase stimulation by FSH is 12 +-3% residual activity, MIM: 233300</li><li>N->S at 680: associated with longer menstrual cycles; dbSNP:rs6166, MIM: 233300</li>	<li>menstrual cycles</li><li>transduction</li>	<li>GO:0042698</li><li>GO:0009293</li>	binding	GO:0005488	<li>cell membrane</li><li>cell surface</li>	<li>GO:0005886</li><li>GO:0009928,GO:0009986</li>	<li>P30528</li><li>P23466</li><li>P00936</li><li>Q59685</li><li>P32212</li><li>Q9WXC3</li><li>P0A1A7</li><li>Q6R6L8</li><li>P0A1A8</li><li>Q05766</li><li>P79763</li><li>P40134</li><li>P40135</li><li>P40130</li><li>P14605</li><li>Q8R428</li><li>Q59119</li><li>P49059</li><li>P43524</li><li>Q6YNB6</li><li>P27580</li><li>P08678</li><li>P40127</li><li>P35379</li><li>P35376</li><li>Q8XAP1</li><li>Q7ZTV5</li><li>Q8FBP0</li><li>P0A4Y1</li><li>P0A4Y0</li><li>Q01513</li><li>P59739</li><li>Q95179</li><li>P49606</li><li>Q5GJ04</li><li>Q01631</li><li>P23945</li><li>P47799</li>	<li>Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]</li><li>Ovarian dysgenesis 1 (ODG1) [MIM:233300]</li>	<li>rs6166</li><li>rs6167</li><li>rs28928870</li><li>rs28928871</li><li>rs6165</li>	2
P23946	1215		<li>G->R at 46: in dbSNP:rs5246</li><li>H->R at 66: in dbSNP:rs5247</li><li>R->H at 98: in dbSNP:rs13306252</li>									<li>rs13306252</li><li>rs5247</li><li>rs5246</li>	2
P23975	6530		<li>N->K at 7: in dbSNP:rs11568323</li><li>V->I at 69: in dbSNP:rs1805064</li><li>T->I at 99: in dbSNP:rs1805065</li><li>V->I at 245: in dbSNP:rs1805066</li><li>T->R at 283: in dbSNP:rs45564432</li><li>N->T at 292: in dbSNP:rs5563</li><li>V->L at 356: in dbSNP:rs5565</li><li>A->P at 369: in dbSNP:rs5566</li><li>N->S at 375: in dbSNP:rs5567</li><li>V->I at 449: in dbSNP:rs2234910</li><li>A->P at 457: in OI; loss of function, MIM: 604715</li><li>K->R at 463: in dbSNP:rs5570, MIM: 604715</li><li>G->S at 478: in dbSNP:rs1805067, MIM: 604715</li><li>F->C at 528: in dbSNP:rs5558, MIM: 604715</li><li>Y->H at 548: in dbSNP:rs5559, MIM: 604715</li><li>I->T at 549: in dbSNP:rs3743788, MIM: 604715</li>								Orthostatic intolerance (OI) [MIM:604715]	<li>rs2234910</li><li>rs5559</li><li>rs45564432</li><li>rs5558</li><li>rs5567</li><li>rs5566</li><li>rs5565</li><li>rs5563</li><li>rs5570</li><li>rs3743788</li><li>rs11568323</li><li>rs1805067</li><li>rs1805066</li><li>rs1805065</li><li>rs1805064</li>	2
P24001	9235		<li>D->N at 152</li>										2
P24043	3908		<li>R->S at 96: in dbSNP:rs34626728</li><li>Y->H at 240: in dbSNP:rs3778142</li><li>C->Y at 527: in MDC1A, MIM: 607855</li><li>L->Q at 545, MIM: 607855</li><li>R->H at 619: in dbSNP:rs3816665, MIM: 607855</li><li>H->D at 644: in dbSNP:rs35879899, MIM: 607855</li><li>C->R at 862: in MDC1A, MIM: 607855</li><li>R->L at 919: in dbSNP:rs35277491, MIM: 607855</li><li>V->M at 1138: in dbSNP:rs2306942, MIM: 607855</li><li>P->A at 1160: in a breast cancer sample; somatic mutation, MIM: 607855</li><li>T->A at 1205: in dbSNP:rs35889149, MIM: 607855</li><li>K->Q at 1561: in dbSNP:rs4143752, MIM: 607855</li><li>A->T at 1945: in dbSNP:rs3828736, MIM: 607855</li><li>L->P at 2564: in MDC1A, MIM: 607855</li><li>Y->H at 2586, MIM: 607855</li><li>A->V at 2587: in dbSNP:rs6569605, MIM: 607855</li><li>E->K at 2614, MIM: 607855</li><li>T->A at 2636: in dbSNP:rs2244008, MIM: 607855</li><li>T->A at 3029: in dbSNP:rs34551216, MIM: 607855</li>								Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) [MIM:607855]	<li>rs6569605</li><li>rs35277491</li><li>rs35879899</li><li>rs3816665</li><li>rs3828736</li><li>rs2306942</li><li>rs4143752</li><li>rs3778142</li><li>rs2244008</li><li>rs34626728</li><li>rs35889149</li><li>rs34551216</li>	2
P24046	2569		<li>M->V at 26: in dbSNP:rs12200969</li><li>H->R at 27: in dbSNP:rs1186902</li>									<li>rs12200969</li><li>rs1186902</li>	2
P24071	2204		<li>D->N at 113: in dbSNP:rs11666735</li><li>S->G at 269: in dbSNP:rs16986050</li>									<li>rs16986050</li><li>rs11666735</li>	2
P24158	5657		<li>V->I at 119: in dbSNP:rs351111</li><li>A->T at 135: in dbSNP:rs1042281</li><li>T->S at 136: in dbSNP:rs1042282</li>									<li>rs1042281</li><li>rs1042282</li><li>rs351111</li>	2
P24298	2875		<li>H->N at 14: in allele GPT*2; dbSNP:rs1063739</li>							<li>P52892</li><li>P52893</li><li>P52894</li><li>P96000</li><li>Q10334</li><li>Q9H3H5</li><li>P39465</li><li>P42867</li><li>P42864</li><li>P13191</li><li>P42881</li><li>P07286</li><li>P24140</li><li>P34106</li><li>P23338</li><li>P24298</li>		rs1063739	2
P24347			<li>V->A at 38: in dbSNP:rs738792</li><li>E->K at 44: in dbSNP:rs28363646</li><li>P->L at 61: in dbSNP:rs28363647</li><li>S->P at 86: in dbSNP:rs28363648</li><li>D->N at 166: in a colorectal cancer sample; somatic mutation</li><li>F->S at 182: in dbSNP:rs17854940</li>									<li>rs28363647</li><li>rs28363648</li><li>rs738792</li><li>rs17854940</li><li>rs28363646</li>	2
P24386	1121		<li>Q->L at 471: in CHM, MIM: 303100</li>							<li>P24386</li><li>P52195</li>	Choroideremia (CHM) [MIM:303100]		2
P24462	1551		<li>R->T at 409: in dbSNP:rs2257401</li>									rs2257401	2
P24539	515		<li>T->M at 152: in dbSNP:rs1264895</li><li>T->N at 152: in dbSNP:rs1264895</li>									rs1264895	2
P24557	6916		<li>R->H at 60: in allele CYP5A1*2; dbSNP:rs6138</li><li>L->P at 82: in GHDD, MIM: 231095</li><li>R->W at 85: in a breast cancer sample; somatic mutation, MIM: 231095</li><li>V->I at 124: in dbSNP rsrs8192833, MIM: 231095</li><li>D->E at 160: in allele CYP5A1*3; dbSNP:rs5768, MIM: 231095</li><li>L->I at 162: in dbSNP:rs6137, MIM: 231095</li><li>N->S at 245: in allele CYP5A1*4: in dbSNP rsrs55856189, MIM: 231095</li><li>K->E at 257: in dbSNP:rs5769, MIM: 231095</li><li>R->G at 260: in dbSNP:rs5770, MIM: 231095</li><li>Q->K at 316: in dbSNP:rs5771, MIM: 231095</li><li>I->T at 331: in dbSNP:rs6140, MIM: 231095</li><li>L->V at 356: in allele CYP5A1*5; dbSNP:rs4529, MIM: 231095</li><li>L->V at 357: in dbSNP:rs4529, MIM: 231095</li><li>E->K at 388: in dbSNP:rs3735354, MIM: 231095</li><li>G->V at 389: in dbSNP:rs5760, MIM: 231095</li><li>R->Q at 412: in GHDD, MIM: 231095</li><li>Q->E at 416: in allele CYP5A1*6; dbSNP:rs4528, MIM: 231095</li><li>R->C at 424: in dbSNP:rs5762, MIM: 231095</li><li>A->T at 429: in dbSNP:rs4526, MIM: 231095</li><li>E->K at 449: in allele CYP5A1*7: in dbSNP rsrs8192868, MIM: 231095</li><li>T->N at 450: in allele CYP5A1*8; dbSNP:rs5763, MIM: 231095</li><li>R->Q at 465: in allele CYP5A1*9: in dbSNP rsrs41311778, MIM: 231095</li><li>G->W at 481: in GHDD, MIM: 231095</li><li>L->P at 487: in GHDD, MIM: 231095</li><li>R->Q at 501: in dbSNP rsrs8192864, MIM: 231095</li><li>L->P at 512: in dbSNP:rs13306050, MIM: 231095</li>							<li>Q2KIG5</li><li>P47787</li><li>P24557</li>	Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095]	<li>rs5768</li><li>rs4528</li><li>rs5769</li><li>rs4529</li><li>rs5763</li><li>rs8192833</li><li>rs6140</li><li>rs8192864</li><li>rs55856189</li><li>rs4526</li><li>rs8192868</li><li>rs6138</li><li>rs6137</li><li>rs41311778</li><li>rs5770</li><li>rs5762</li><li>rs5771</li><li>rs5760</li><li>rs3735354</li><li>rs13306050</li>	2
P24592	3489		<li>R->G at 128: in dbSNP:rs9658616</li><li>R->L at 134: in dbSNP:rs34995393</li><li>R->L at 217: in dbSNP:rs6413498</li><li>R->Q at 217: in dbSNP rsrs6413498</li><li>T->P at 236: in dbSNP:rs1053134</li>									<li>rs6413498</li><li>rs1053134</li><li>rs9658616</li><li>rs34995393</li>	2
P24593	3488		<li>R->W at 138: in dbSNP:rs11575194</li>									rs11575194	2
P24723	5583		<li>A->V at 19: in dbSNP rsrs55645551</li><li>K->R at 65: in dbSNP rsrs55737090</li><li>R->Q at 149: in dbSNP rsrs55848048</li><li>R->Q at 359: in dbSNP rsrs55818778</li><li>V->I at 374: associated with susceptibility to ischemic stroke; increases autophosphorylation and kinase activity: in dbSNP rsrs2230500</li><li>T->A at 575: in a aLL TEL/AML1+ sample; somatic mutation</li><li>T->I at 594: in a colorectal adenocarcinoma sample; somatic mutation</li><li>P->S at 612: in dbSNP rsrs34159231</li><li>D->V at 645: in dbSNP:rs35561533</li>	autophosphorylation	GO:0046777	kinase activity	GO:0016301			<li>P41212</li><li>Q01196</li>		<li>rs2230500</li><li>rs55645551</li><li>rs34159231</li><li>rs55848048</li><li>rs55818778</li><li>rs55737090</li><li>rs35561533</li>	2
P24752	38		<li>A->P at 5: in dbSNP:rs3741056</li><li>Missing  at 85: in 3KTD</li><li>N->S at 93: in 3KTD; 10% activity, MIM: 203750</li><li>G->A at 152: in 3KTD, MIM: 203750</li><li>N->D at 158: in 3KTD; no activity, MIM: 203750</li><li>G->R at 183: in 3KTD; no activity, MIM: 203750</li><li>T->M at 297: in 3KTD; 10% normal activity, MIM: 203750</li><li>A->P at 301: in 3KTD; 5% normal activity, MIM: 203750</li><li>I->T at 312: in 3KTD; 10% activity, MIM: 203750</li><li>A->P at 333: in 3KTD; no activity, MIM: 203750</li><li>G->V at 379: in 3KTD, MIM: 203750</li><li>A->T at 380: in 3KTD; 7% normal activity, MIM: 203750</li>								3-ketothiolase deficiency (3KTD) [MIM:203750]	rs3741056	2
P24821			<li>Q->R at 539: in dbSNP:rs1757095</li><li>V->I at 605: in dbSNP:rs3827816</li><li>Q->R at 680: in dbSNP:rs1061494</li><li>A->T at 1781: in dbSNP:rs2274750</li><li>Q->E at 2008: in dbSNP:rs13321</li>									<li>rs13321</li><li>rs1061494</li><li>rs1757095</li><li>rs2274750</li><li>rs3827816</li>	2
P24855	1773		<li>R->S at 2: in dbSNP:rs8176927</li><li>Q->E at 31: in allele DNASE1*4</li><li>R->G at 107: in dbSNP:rs8176928</li><li>V->M at 114: in allele DNASE1*5</li><li>G->R at 127: in dbSNP:rs8176919</li><li>P->A at 154: in allele DNASE1*3; dbSNP:rs1799891</li><li>R->C at 207: in allele DNASE1*6</li><li>C->Y at 231: in dbSNP:rs8176940</li><li>R->Q at 244: in allele DNASE1*1; dbSNP:rs1053874</li><li>A->P at 246: in dbSNP:rs8176939</li><li>G->D at 262: in dbSNP:rs8176924</li>							<li>Q9YGI5</li><li>Q4AEE3</li><li>P00639</li><li>P24855</li><li>P11936</li><li>Q767J3</li><li>P11937</li><li>O18998</li>		<li>rs8176919</li><li>rs8176940</li><li>rs8176928</li><li>rs8176939</li><li>rs8176927</li><li>rs8176924</li><li>rs1053874</li><li>rs1799891</li>	2
P24928	5430		<li>R->C at 292: in dbSNP:rs2229198</li>									rs2229198	2
P25021	3274		<li>N->D at 217</li><li>K->R at 231</li><li>V->M at 268</li>										2
P25024	3577		<li>M->R at 31: in dbSNP:rs16858811</li><li>R->C at 71: in dbSNP:rs1805038</li><li>M->L at 268: in dbSNP:rs9282752</li><li>S->T at 276: common polymorphism; dbSNP:rs2234671</li><li>A->T at 306</li><li>R->C at 335: in dbSNP:rs16858808</li><li>S->L at 342: in dbSNP:rs16858806</li>									<li>rs16858806</li><li>rs16858808</li><li>rs9282752</li><li>rs1805038</li><li>rs16858811</li><li>rs2234671</li>	2
P25025	3579		<li>R->C at 80: in dbSNP:rs1805038</li>									rs1805038	2
P25054	324		<li>R->W at 99: in FAP; could be a rare polymorphism, MIM: 175100</li><li>S->I at 171: in FAP, MIM: 175100</li><li>R->C at 414: in FAP, MIM: 175100</li><li>S->G at 722: in FAP, MIM: 175100</li><li>S->T at 784: in FAP, MIM: 175100</li><li>G->C at 817: in gastric cancer, MIM: 175100</li><li>P->S at 870: in dbSNP:rs33974176, MIM: 175100</li><li>I->T at 880: in colorectal carcinoma and gastric cancer; from a patient with Turcot syndrome, MIM: 175100</li><li>V->I at 890: in colorectal carcinoma; from a patient with Turcot syndrome, MIM: 175100</li><li>S->Y at 906: in colorectal tumor, MIM: 175100</li><li>E->G at 911: in FAP and colorectal tumor, MIM: 175100</li><li>N->D at 942: in gastric cancer, MIM: 175100</li><li>Y->C at 1027: in colorectal tumor, MIM: 175100</li><li>E->G at 1057: in non-FAP, MIM: 175100</li><li>N->D at 1118, MIM: 175100</li><li>G->E at 1120: in gastric cancer: in dbSNP rsrs28933379, MIM: 175100</li><li>R->C at 1171: in FAP; could be a polymorphism, MIM: 175100</li><li>R->H at 1171: in gastric cancer, MIM: 175100</li><li>P->L at 1176: in FAP, MIM: 175100</li><li>A->P at 1184: in FAP, MIM: 175100</li><li>F->S at 1197: in gastric cancer, MIM: 175100</li><li>I->F at 1254: in a colorectal cancer sample; somatic mutation, MIM: 175100</li><li>I->T at 1259: in gastric cancer, MIM: 175100</li><li>T->M at 1292, MIM: 175100</li><li>A->V at 1296: in MDB; sporadic, MIM: 155255</li><li>I->V at 1304, MIM: 155255</li><li>I->K at 1307: in 6% of Ashkenazi Jews; associated with slightly increased risk of colon and breast cancer; dbSNP:rs1801155, MIM: 155255</li><li>G->E at 1312: in gastric cancer, MIM: 155255</li><li>T->A at 1313: in FAP and colorectal tumor, MIM: 175100</li><li>E->Q at 1317: may contribute to colorectal tumor development; dbSNP:rs1801166, MIM: 175100</li><li>V->A at 1326: in gastric cancer, MIM: 175100</li><li>R->W at 1348: in FAP, MIM: 175100</li><li>D->H at 1422: in colorectal tumor, MIM: 175100</li><li>V->I at 1472: in MDB; sporadic, MIM: 155255</li><li>S->G at 1495: in MDB; sporadic, MIM: 155255</li><li>T->S at 1496: in dbSNP:rs2229996, MIM: 155255</li><li>A->V at 1508: in colorectal carcinoma from a patient with Turcot syndrome, MIM: 155255</li><li>V->D at 1822: in dbSNP:rs459552, MIM: 155255</li><li>R->T at 1882: in dbSNP:rs34157245, MIM: 155255</li><li>S->T at 1973: in dbSNP:rs4987109, MIM: 155255</li><li>V->L at 2499: in dbSNP:rs33941929, MIM: 155255</li><li>G->S at 2502: in dbSNP:rs2229995, MIM: 155255</li><li>S->C at 2621: in FAP, MIM: 175100</li><li>I->T at 2738: in FAP, MIM: 175100</li><li>L->F at 2839: in FAP, MIM: 175100</li>	development	GO:0007275					<li>Q12884</li><li>Q92990</li><li>Q8BZM1</li>	<li>Medulloblastoma (MDB) [MIM:155255]</li><li>Familial adenomatous polyposis (FAP) [MIM:175100]</li>	<li>rs2229995</li><li>rs4987109</li><li>rs34157245</li><li>rs33941929</li><li>rs33974176</li><li>rs2229996</li><li>rs459552</li><li>rs28933379</li><li>rs1801155</li><li>rs1801166</li>	2
P25063			<li>T->S at 44: in dbSNP:rs10465460</li><li>A->V at 57: increases the risk of MS in the general population; preferentially transmitted to MS-affected family members and resulted in more rapid progression to disability; dbSNP:rs8734</li>									rs10465460	2
P25067	1296		<li>G->R at 3</li><li>R->Q at 155: in FECD; identified as a polymorphism in the Japanese population, MIM: 136800</li><li>R->Q at 304: in FECD, MIM: 136800</li><li>G->R at 357: in FECD; uncertain pathogenicity, MIM: 136800</li><li>R->H at 434: in FECD, MIM: 136800</li><li>Q->K at 455: in FECD and PPCD2, MIM: 609140</li><li>T->M at 502, MIM: 609140</li><li>P->L at 575: in FECD; uncertain pathogenicity, MIM: 136800</li><li>T->I at 645, MIM: 136800</li>								<li>Posterior polymorphous corneal dystrophy 2 (PPCD2) [MIM:609140]</li><li>Fuchs endothelial corneal dystrophy (FECD) [MIM:136800]</li>		2
P25092	2984		<li>C->R at 30: in dbSNP rsrs56142849</li><li>G->R at 61: in a metastatic melanoma sample; somatic mutation</li><li>R->Q at 114: in dbSNP rsrs56275235</li><li>L->F at 281: in dbSNP:rs1420635</li><li>R->L at 464: in dbSNP rsrs55684775</li><li>E->K at 610: in dbSNP rsrs55897626</li><li>I->V at 859: in dbSNP rsrs34890806</li><li>Q->R at 1045: in dbSNP rsrs35617837</li><li>Y->C at 1072: in dbSNP rsrs35179392</li>									<li>rs34890806</li><li>rs1420635</li><li>rs55684775</li><li>rs35617837</li><li>rs56275235</li><li>rs56142849</li><li>rs35179392</li><li>rs55897626</li>	2
P25098	156		<li>I->T at 184: in dbSNP rsrs55696045</li><li>R->Q at 578: in a colorectal adenocarcinoma sample; somatic mutation</li>									rs55696045	2
P25101	1909		<li>I->L at 136: in a breast cancer sample; somatic mutation</li>										2
P25103	6869		<li>Y->H at 192: display properties similar to those of the wild-type receptor</li>										2
P25105	5724		<li>A->D at 224: in dbSNP:rs5938</li><li>N->S at 338: in dbSNP:rs5939</li>									<li>rs5939</li><li>rs5938</li>	2
P25106	57007		<li>L->W at 219: in dbSNP:rs10183641</li>									rs10183641	2
P25116	2149		<li>S->G at 166: in dbSNP:rs5893</li><li>Y->N at 187: in dbSNP:rs2230849</li><li>V->L at 257: in dbSNP:rs2227832</li><li>S->Y at 412: in dbSNP:rs2227799</li>									<li>rs2227832</li><li>rs5893</li><li>rs2230849</li><li>rs2227799</li>	2
P25189	4359		<li>I->M at 30: in CMT1B, MIM: 118200</li><li>V->F at 32: in CMT1B; severe, MIM: 118200</li><li>T->I at 34: in CMT1B, MIM: 118200</li><li>D->Y at 35: in CMTDID, MIM: 607791</li><li>H->P at 39: in CMT1B; slightly reduces intercellular adhesion; does not affect targeting to the cell membrane, MIM: 118200</li><li>Missing  at 42: in DSS, MIM: 118200</li><li>S->F at 44: in CMT2I and CMT1B, MIM: 607677</li><li>Missing  at 50: in CMT1B, MIM: 607677</li><li>Missing  at 51-57: in CMT1B; affects targeting to the cell membrane; reduces intercellular adhesion, MIM: 607677</li><li>S->F at 51: in CMT1B, MIM: 118200</li><li>S->C at 54: in CMT1B; severe, MIM: 118200</li><li>S->P at 54: in CMT1B, MIM: 118200</li><li>E->K at 56: in CMT2, MIM: 118200</li><li>V->F at 58: in CMT1B; moderate, MIM: 118200</li><li>D->H at 60: in CMT2I, MIM: 607677</li><li>D->G at 61: in CMT2; unclassified, MIM: 607677</li><li>I->F at 62: in CMT1B, MIM: 118200</li><li>I->M at 62: in CMT2I, MIM: 607677</li><li>S->C at 63: in DSS, MIM: 145900</li><li>S->F at 63: in CMT1B, MIM: 118200</li><li>Missing  at 63: in CMT1B, MIM: 118200</li><li>Missing  at 64: in CMT1B and DSS, MIM: 118200</li><li>T->A at 65: in CMT1B, MIM: 118200</li><li>T->I at 65: in CMT1B, MIM: 118200</li><li>Y->C at 68: in CMT1B; severe/mild, MIM: 118200</li><li>D->V at 75: in CMT2J, MIM: 607736</li><li>S->L at 78: in CMT1B; severe, MIM: 118200</li><li>S->W at 78: in CMT1B, MIM: 118200</li><li>H->R at 81: in CMT1B; severe; reduces intercellular adhesion; does not affect targeting to the cell membrane, MIM: 118200</li><li>H->Y at 81: in CMT; associated with F-113, MIM: 118200</li><li>Y->C at 82: in CMT1B and DSS, MIM: 145900</li><li>I->N at 89: in CMT2I; patient carrying also Met-92 and Met-162, MIM: 607677</li><li>D->E at 90: in CMT1B, MIM: 118200</li><li>V->M at 92: in CMT2I; patient carrying also Asn-89 and Met-162, MIM: 607677</li><li>G->E at 93: in CMT1B, MIM: 118200</li><li>K->E at 96: in CMT1B, MIM: 118200</li><li>E->V at 97: in CMT2J, MIM: 607736</li><li>R->C at 98: in CMT1B; severe and DSS, MIM: 118200</li><li>R->H at 98: in CMT1B, MIM: 118200</li><li>R->P at 98: in CMT1B, MIM: 118200</li><li>R->S at 98: in CMT1B, MIM: 118200</li><li>I->T at 99: in CMT1B, MIM: 118200</li><li>W->C at 101: in CMT1B, MIM: 118200</li><li>G->E at 103: in CMT1B, MIM: 118200</li><li>D->N at 109: in CMT1B, MIM: 118200</li><li>G->D at 110: in DSS, MIM: 145900</li><li>I->T at 112: in CMT1B; severe, MIM: 118200</li><li>V->F at 113: in CMT; unclassified; associated with Y-81, MIM: 118200</li><li>V->I at 113: in CMT2, MIM: 118200</li><li>I->T at 114: in DSS; associated on the same allele as His-116 and Asn-128 in one patient, MIM: 145900</li><li>N->H at 116: in DSS; associated on the same allele as Thr-114 and Asn-128 in one patient, MIM: 145900</li><li>D->DFY at 118: in DSS, MIM: 145900</li><li>D->N at 118: in CMT2I, MIM: 607677</li><li>Y->C at 119: in CMT2; unclassified, MIM: 607677</li><li>N->S at 122: in CMT1B; loss of glycosylation site, MIM: 118200</li><li>G->C at 123: in DSS and CMT1B, MIM: 145900</li><li>Missing  at 124-125: in DSS, MIM: 145900</li><li>T->K at 124: in CHN, MIM: 605253</li><li>T->M at 124: in CMT1B and CMT2J; CMTJ2 patients present Adie pupil; slightly reduces intercellular adhesion; does not affect targeting to the cell membrane; affects glycosylation, MIM: 607736</li><li>C->Y at 127: in DSS, MIM: 145900</li><li>D->E at 128: in CMT1B, MIM: 118200</li><li>D->N at 128: in DSS; associated on the same allele as Thr-114 and His-116 in one patient, MIM: 145900</li><li>K->R at 130: in CMT1B and DSS, MIM: 145900</li><li>N->K at 131: in Roussy-Levy syndrome, MIM: 180800</li><li>P->L at 132: in CMT1B; moderate, MIM: 118200</li><li>D->E at 134: in CMT1B, MIM: 118200</li><li>D->G at 134: in CMT1B, MIM: 118200</li><li>D->N at 134: in CMT1B, MIM: 118200</li><li>I->L at 135: in CMT1B and DSS, MIM: 145900</li><li>I->T at 135: in CMT1B, MIM: 118200</li><li>V->E at 136: in DSS, MIM: 145900</li><li>G->S at 137: in CMT1B, MIM: 118200</li><li>K->N at 138: in CMT1B, MIM: 118200</li><li>T->N at 139: in CMT1B, MIM: 118200</li><li>S->T at 140: in CMT1B, MIM: 118200</li><li>T->M at 143: in CMT1B, MIM: 118200</li><li>Y->S at 145: in CMT1B, MIM: 118200</li><li>V->F at 146: in CMT1B, MIM: 118200</li><li>I->M at 162: in CMT2I; patient carrying also Asn-89 and Met-92, MIM: 607677</li><li>G->R at 163: in CMT1B, MIM: 118200</li><li>G->A at 167: in CMT1B and DSS; severe, MIM: 145900</li><li>G->R at 167: in DSS and CMT, MIM: 145900</li><li>L->R at 170: in CMT1B, MIM: 118200</li><li>T->ER at 216: in CMT1B; referred to as 'T216ER', MIM: 118200</li><li>A->T at 221: in DSS, MIM: 145900</li><li>D->Y at 224: in CMT1B; also in two asymptomatic individuals from the same family, MIM: 118200</li><li>R->S at 227: in CMT1B, MIM: 118200</li><li>K->E at 236: in CMT2I, MIM: 607677</li><li>Missing  at 236: in CMT1B, MIM: 607677</li><li>R->L at 244, MIM: 607677</li>					cell membrane	GO:0005886	<li>Q94F87</li><li>P42286</li><li>Q6V3V8</li><li>P54420</li><li>P15882</li><li>Q15013</li><li>Q17QN0</li><li>O25424</li><li>Q9ZLB9</li><li>Q92570</li><li>Q6V3W0</li><li>P06608</li>	<li>Dejerine-Sottas syndrome (DSS) [MIM:145900]</li><li>Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]</li><li>Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]</li><li>Congenital hypomyelination neuropathy (CHN) [MIM:605253]</li><li>Roussy-Levy syndrome [MIM:180800]</li><li>Charcot-Marie-Tooth disease dominant intermediate type D (CMTDID) [MIM:607791]</li><li>Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]</li>		2
P25445	355		<li>A->T at 16: in dbSNP:rs3218619</li><li>A->T at 25: in non-Hodgkin lymphoma; somatic mutation</li><li>T->A at 28: in ALPS1A; associated with autoimmune hepatitis type 2, MIM: 601859</li><li>C->R at 82: in ALPS1A, MIM: 601859</li><li>N->S at 118: in squamous cell carcinoma; burn-scar related; somatic mutation, MIM: 601859</li><li>R->W at 121: in ALPS1A, MIM: 601859</li><li>T->I at 122: in dbSNP:rs3218614, MIM: 601859</li><li>C->R at 178: in squamous cell carcinoma; burn-scar related; somatic mutation, MIM: 601859</li><li>L->F at 180: in non-Hodgkin lymphoma; somatic mutation, MIM: 601859</li><li>P->L at 183: in non-Hodgkin lymphoma; somatic mutation, MIM: 601859</li><li>I->V at 184: in dbSNP:rs28362322, MIM: 601859</li><li>T->I at 198: in non-Hodgkin lymphoma; somatic mutation, MIM: 601859</li><li>Y->C at 232: in ALPS1A, MIM: 601859</li><li>T->K at 241: in ALPS1A, MIM: 601859</li><li>T->P at 241: in ALPS1A, MIM: 601859</li><li>R->P at 250: in ALPS1A, MIM: 601859</li><li>R->Q at 250: in ALPS1A, MIM: 601859</li><li>N->D at 255: in squamous cell carcinoma; burn-scar related; somatic mutation, MIM: 601859</li><li>A->D at 257: in ALPS1A, MIM: 601859</li><li>D->G at 260: in ALPS1A, MIM: 601859</li><li>D->V at 260: in ALPS1A and non-Hodgkin lymphoma; somatic mutation: in dbSNP rsrs28929498, MIM: 601859</li><li>D->Y at 260: in ALPS1A, MIM: 601859</li><li>N->K at 264: in non-Hodgkin lymphoma; somatic mutation, MIM: 601859</li><li>T->I at 270: in ALPS1A, MIM: 601859</li><li>E->G at 272: in ALPS1A, MIM: 601859</li><li>E->K at 272: in non-Hodgkin lymphoma; somatic mutation, MIM: 601859</li><li>L->F at 278: in non-Hodgkin lymphoma; somatic mutation, MIM: 601859</li><li>K->N at 299: in non-Hodgkin lymphoma; somatic mutation, MIM: 601859</li><li>T->I at 305: in dbSNP:rs3218611, MIM: 601859</li><li>I->S at 310: in ALPS1A, MIM: 601859</li>								Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	<li>rs3218611</li><li>rs28362322</li><li>rs3218619</li><li>rs28929498</li><li>rs3218614</li>	2
P25686	3300		<li>G->R at 270: in dbSNP:rs34127289</li>									rs34127289	2
P25705	498		<li>A->S at 32: in dbSNP:rs2228437</li><li>I->V at 223: in dbSNP:rs2228436</li>									<li>rs2228437</li><li>rs2228436</li>	2
P25774	1520		<li>R->W at 113: in dbSNP:rs2230061</li><li>S->T at 161: in dbSNP:rs1059604</li>									<li>rs2230061</li><li>rs1059604</li>	2
P25787	5683		<li>L->V at 110: in a colorectal cancer sample; somatic mutation</li>										2
P25874	7350		<li>A->T at 64: in dbSNP rsrs45539933</li><li>M->L at 229: in dbSNP:rs2270565</li>									<li>rs2270565</li><li>rs45539933</li>	2
P25929	4886		<li>K->T at 374: in dbSNP:rs5578</li>									rs5578	2
P25940	50509		<li>R->H at 134: in dbSNP:rs2303098</li><li>R->P at 1207: in dbSNP:rs2287813</li><li>V->M at 1428: in dbSNP:rs3815746</li><li>I->M at 1594: in dbSNP:rs3745581</li><li>V->I at 1691: in dbSNP:rs2277969</li>									<li>rs3815746</li><li>rs2303098</li><li>rs2277969</li><li>rs3745581</li><li>rs2287813</li>	2
P25942	958		<li>C->Q at 26: in bladder carcinoma cell line Hu549; requires 2 nucleotide substitutions</li><li>S->G at 35: in bladder carcinoma cell line Hu549</li><li>S->T at 39: in bladder carcinoma cell line Hu549</li><li>C->R at 83: in HIGM3: in dbSNP rsrs28931586, MIM: 606843</li><li>S->L at 124: in dbSNP:rs11569321, MIM: 606843</li><li>P->A at 227: in dbSNP:rs11086998, MIM: 606843</li>								Hyper-IgM immunodeficiency type 3 (HIGM3) [MIM:606843]	<li>rs28931586</li><li>rs11569321</li><li>rs11086998</li>	2
P26012	3696		<li>S->F at 552: in dbSNP:rs5002476</li>									rs5002476	2
P26022	5806		<li>H->Q at 39: in dbSNP:rs34655398</li><li>D->A at 48: in dbSNP:rs3816527</li><li>A->V at 290: in dbSNP:rs35415718</li><li>E->K at 313: in dbSNP:rs4478039</li>									<li>rs35415718</li><li>rs3816527</li><li>rs34655398</li><li>rs4478039</li>	2
P26367	5080		<li>N->S at 17: in AN2, MIM: 106210</li><li>G->W at 18: in AN2 and Peters anomaly, MIM: 604229</li><li>R->P at 19: in AN2, MIM: 106210</li><li>Missing  at 22-26: in AN2; sporadic form, MIM: 106210</li><li>R->G at 26: in Peters anomaly, MIM: 604229</li><li>I->S at 29: in AN2; sporadic form, MIM: 106210</li><li>I->V at 29: in AN2, MIM: 106210</li><li>A->P at 33: in AN2; sporadic form, MIM: 106210</li><li>Missing  at 37-39: in AN2; sporadic form, MIM: 106210</li><li>I->S at 42: in AN2; mild, MIM: 106210</li><li>S->P at 43: in AN2; sporadic form, MIM: 106210</li><li>R->Q at 44: in AN2, MIM: 106210</li><li>L->R at 46: in AN2; shows almost no binding efficiency; transcriptional activation ability is about 50% lower than that of the wild-type protein, MIM: 106210</li><li>C->R at 52: in AN2; shows almost no binding efficiency; transcriptional activation ability is about 50% lower than that of the wild-type protein, MIM: 106210</li><li>V->D at 53: in Peters anomaly, congenital cataract and foveal hypoplasia; Japanese pedigrees, MIM: 604229</li><li>V->L at 53: in AN2; mild; shows 50% lower DNA-binding and transactivation ability than the wild-type protein, MIM: 106210</li><li>I->T at 56: in AN2; shows only one-quarter to one-third the binding ability of the normal wild-type protein; exhibits normal transactivation, MIM: 106210</li><li>T->P at 63: in AN2; mild, MIM: 106210</li><li>G->V at 64: in foveal hypoplasia; associated with presenile cataract syndrome, MIM: 136520</li><li>P->S at 68: in morning glory disk anomaly; significant impairment of transcriptional activation ability, MIM: 136520</li><li>G->D at 73: in AN2; shows almost no binding efficiency; transcriptional activation ability is about 80% of that of the wild-type protein, MIM: 106210</li><li>A->E at 79: in AN2; mild, MIM: 106210</li><li>I->K at 87: in AN2, MIM: 106210</li><li>I->R at 87: in AN2; loss of activity, MIM: 106210</li><li>P->R at 118: in nystagmus; associated with a variant form of aniridia, MIM: 106210</li><li>S->R at 119: in AN2; sporadic form, MIM: 106210</li><li>R->C at 125: in foveal hypoplasia; isolated, MIM: 136520</li><li>V->D at 126: in ectopia pupillae, MIM: 129750</li><li>R->C at 128: in foveal hypoplasia; isolated, MIM: 136520</li><li>Q->H at 178: in AN2, MIM: 106210</li><li>R->Q at 208: in AN2; mild, MIM: 106210</li><li>R->W at 208: in AN2, MIM: 106210</li><li>R->T at 242: in AN2; the mutant homeodomain binds DNA as well as the wild-type homeodomain; the mutant does not modify the DNA-binding properties of the paired domain; the steady-state levels of the full length mutant protein are higher than those of the wild-type one; a responsive promoter is activated to a higher extend by the mutant protein than by the wild-type protein; the presence of the mutation reduces sensitivity to trypsin digestion, MIM: 106210</li><li>F->S at 258: in ocular coloboma; significant impairment of transcriptional activation ability, MIM: 120200</li><li>S->I at 292: in bilateral optic nerve hypoplasia; significant impairment of transcriptional activation ability, MIM: 165550</li><li>A->T at 321: shows about two-fold higher binding efficiency than the normal wild-type protein; transcriptional activation ability is about 89% of that of the wild-type protein, MIM: 165550</li><li>S->A at 353: in AN2; familial form, MIM: 106210</li><li>S->P at 363: in Peters anomaly, MIM: 604229</li><li>P->Q at 375: in AN2; reduced DNA binding ability, MIM: 106210</li><li>Q->R at 378: in optic nerve aplasia, MIM: 106210</li><li>M->V at 381: in bilateral optic nerve hypoplasia, MIM: 165550</li><li>G->D at 387, MIM: 165550</li><li>T->A at 391: in bilateral optic nerve aplasia, MIM: 165550</li><li>Q->R at 422: in AN2 and ocular anterior segment anomalies; loss of DNA binding ability, MIM: 106210</li>	digestion	GO:0007586	<li>binding</li><li>DNA-binding</li>	<li>GO:0005488</li><li>GO:0003677</li>			<li>P24664</li><li>Q59149</li><li>P81916</li><li>P26367</li><li>P35050</li><li>P23916</li><li>P83348</li>	<li>Peters anomaly [MIM:604229]</li><li>Ocular coloboma [MIM:120200]</li><li>Foveal hypoplasia [MIM:136520]</li><li>Bilateral optic nerve hypoplasia [MIM:165550]</li><li>Ectopia pupillae [MIM:129750]</li><li>Aniridia type II (AN2) [MIM:106210]</li>		2
P26371	3846		<li>G->R at 8: in dbSNP:rs34213141</li><li>Y->C at 40: in dbSNP:rs10792769</li>									<li>rs10792769</li><li>rs34213141</li>	2
P26373	6137		<li>A->T at 112: in dbSNP:rs9930567</li><li>T->P at 170: in dbSNP:rs16965839</li>									<li>rs16965839</li><li>rs9930567</li>	2
P26378	1996		<li>P->S at 270: in dbSNP:rs2494876</li>									rs2494876	2
P26436	56		<li>G->R at 126: in dbSNP:rs34788353</li>									rs34788353	2
P26439	3284		<li>A->E at 10: in AH2; activity abolished: in dbSNP rsrs28934880, MIM: 201810</li><li>A->V at 10: in AH2; nonsalt-wasting form, MIM: 201810</li><li>G->D at 15: in AH2; activity abolished, MIM: 201810</li><li>D->N at 74: in dbSNP:rs4986954, MIM: 201810</li><li>A->T at 82: in AH2, MIM: 201810</li><li>E->Q at 94: in dbSNP:rs6211, MIM: 201810</li><li>N->S at 100: in AH2; nonsalt-wasting form, MIM: 201810</li><li>L->W at 108: in AH2; activity abolished, MIM: 201810</li><li>G->R at 129: in AH2; nonsalt-wasting form, MIM: 201810</li><li>E->K at 142: in AH2; activity abolished, MIM: 201810</li><li>P->L at 155: in AH2; nonsalt-wasting form, MIM: 201810</li><li>A->V at 167: in AH2; late onset; almost normal activity: in dbSNP rsrs35486059, MIM: 201810</li><li>L->R at 173: in AH2; nonsalt-wasting form, MIM: 201810</li><li>P->L at 186: in AH2; activity abolished, MIM: 201810</li><li>L->P at 205: in AH2, MIM: 201810</li><li>S->G at 213: in AH2; late onset; partial loss of activity, MIM: 201810</li><li>K->E at 216: in AH2; late onset; partial loss of activity, MIM: 201810</li><li>P->H at 222: in AH2; nonsalt-wasting form; activity abolished, MIM: 201810</li><li>P->Q at 222: in AH2; activity abolished, MIM: 201810</li><li>P->T at 222: in AH2, MIM: 201810</li><li>Missing  at 231-238: in AH2; activity abolished, MIM: 201810</li><li>L->S at 236: in AH2; mild; 100% of activity; dbSNP:rs35887327, MIM: 201810</li><li>A->P at 245: in AH2; loss of 88% of activity, MIM: 201810</li><li>Y->N at 253: in AH2; activity abolished, MIM: 201810</li><li>Y->D at 254: in AH2; activity abolished, MIM: 201810</li><li>T->M at 259: in AH2; activity abolished, MIM: 201810</li><li>T->R at 259: in AH2; activity abolished, MIM: 201810</li><li>G->V at 294: in AH2; nonsalt-wasting form; activity abolished, MIM: 201810</li>								Adrenal hyperplasia type 2 (AH2) [MIM:201810]	<li>rs6211</li><li>rs35486059</li><li>rs35887327</li><li>rs28934880</li><li>rs4986954</li>	2
P26441	1270		<li>N->S at 49: in dbSNP:rs17152779</li><li>H->R at 182: in dbSNP:rs6266</li>									<li>rs6266</li><li>rs17152779</li>	2
P26442			<li>I->V at 181: in dbSNP:rs4924</li>									rs4924	2
P26572	4245		<li>R->Q at 223: in dbSNP:rs7726005</li><li>P->L at 435: in dbSNP:rs634501</li>									<li>rs7726005</li><li>rs634501</li>	2
P26639	6897		<li>G->D at 21: in dbSNP:rs34334786</li>									rs34334786	2
P26640	7407		<li>P->R at 51: in dbSNP:rs2607015</li><li>R->C at 181: in dbSNP:rs35196751</li><li>P->S at 626: in dbSNP:rs11531</li><li>P->L at 1008: in dbSNP:rs1076827</li>									<li>rs2607015</li><li>rs1076827</li><li>rs35196751</li><li>rs11531</li>	2
P26651	7538		<li>P->S at 37: in dbSNP:rs17878633</li><li>P->S at 55: in dbSNP:rs2229272</li><li>I->F at 259: in dbSNP rsrs17886974</li><li>V->F at 324: in dbSNP rsrs17884899</li>									<li>rs17886974</li><li>rs17878633</li><li>rs17884899</li><li>rs2229272</li>	2
P26678	5350		<li>R->C at 9: in CMD1P; impairs phosphorylation by PKA, MIM: 609909</li><li>Missing  at 14: in CMD1P; destabilizes the homopentamer, MIM: 609909</li>	phosphorylation	GO:0016310	PKA	GO:0004691				Cardiomyopathy dilated type 1P (CMD1P) [MIM:609909]		2
P26715	3821		<li>S->N at 29: in dbSNP:rs2253849</li>									rs2253849	2
P26717	3822		<li>S->N at 2: in allele NKG2-C*02: in dbSNP rsrs28403159</li><li>S->F at 102: in allele NKG2-C*02</li>									rs28403159	2
P26718	22914		<li>A->T at 72: in allele NKG2-D*02; dbSNP:rs2255336</li><li>N->S at 177: in dbSNP:rs2306182</li>									<li>rs2255336</li><li>rs2306182</li>	2
P26842	939		<li>A->T at 59: in dbSNP:rs25680</li><li>R->H at 233: in dbSNP:rs2532502</li>									<li>rs2532502</li><li>rs25680</li>	2
P26885	2286		<li>R->Q at 7: in dbSNP:rs4672</li><li>TA->S at 21-22</li><li>A->T at 25</li><li>C->Y at 97</li>									rs4672	2
P26927	4485		<li>C->Y at 13</li><li>C->F at 212</li><li>E->K at 676: in dbSNP:rs7798</li>									rs7798	2
P26951	3563		<li>A->T at 12: in dbSNP:rs6647004</li><li>E->G at 77: in dbSNP:rs17886756</li><li>S->T at 123: in dbSNP:rs17883572</li><li>V->L at 323: in dbSNP:rs17883366</li>									<li>rs17886756</li><li>rs6647004</li><li>rs17883366</li><li>rs17883572</li>	2
P26998			<li>R->Q at 105: in dbSNP:rs17670506</li><li>D->H at 113: in dbSNP:rs9608378</li><li>V->I at 159: in dbSNP:rs4455261</li><li>G->R at 165: in CATCN2, MIM: 609741</li>								Autosomal recessive congenital nuclear cataract 2 (CATCN2) [MIM:609741]	<li>rs4455261</li><li>rs9608378</li><li>rs17670506</li>	2
P27037	92		<li>S->R at 258: in dbSNP rsrs34917571</li><li>D->N at 306: in a gastric adenocarcinoma sample; somatic mutation</li>									rs34917571	2
P27352	2694		<li>Q->R at 23: in IFD; could be a polymorphism; dbSNP:rs35211634, MIM: 261000</li><li>S->L at 46: in IFD, MIM: 261000</li><li>G->R at 65: in dbSNP:rs11825834, MIM: 261000</li><li>N->S at 255: in dbSNP:rs35867471, MIM: 261000</li>								Hereditary intrinsic factor deficiency (IFD) [MIM:261000]	<li>rs35211634</li><li>rs35867471</li><li>rs11825834</li>	2
P27361	5595		<li>E->K at 323: in dbSNP rsrs55859133</li>									rs55859133	2
P27448	4140		<li>V->A at 452</li><li>S->G at 466</li>										2
P27539	2657		<li>A->V at 118: in dbSNP:rs4808863</li>									rs4808863	2
P27540	405		<li>R->Q at 430: in dbSNP:rs2229175</li><li>E->K at 435: in dbSNP:rs2229176</li><li>D->N at 511: in dbSNP:rs1805133</li><li>D->E at 517: in dbSNP:rs10305741</li><li>P->L at 706: in dbSNP:rs2275237</li>									<li>rs10305741</li><li>rs2229176</li><li>rs1805133</li><li>rs2275237</li><li>rs2229175</li>	2
P27635	6134		<li>N->S at 202: in dbSNP:rs4909 and dbSNP:rs12012747</li><li>L->M at 206: in Autism</li><li>H->Q at 213: in Autism</li>									rs4909 and dbSNP:rs12012747	2
P27694	6117		<li>T->A at 351: in dbSNP:rs5030755</li>									rs5030755	2
P27701	3732		<li>I->V at 241: in dbSNP:rs1139971</li>									rs1139971	2
P27708	790		<li>R->Q at 177: in a colorectal cancer sample; somatic mutation</li><li>Y->C at 735: in a colorectal cancer sample; somatic mutation</li>										2
P27918	5199		<li>T->I at 3: in a breast cancer sample; somatic mutation</li><li>V->M at 53: in dbSNP:rs8177068</li><li>R->W at 100: in PFD; type II, MIM: 312060</li><li>P->L at 204: in dbSNP:rs8177076, MIM: 312060</li><li>G->S at 250: in dbSNP:rs8177077, MIM: 312060</li><li>G->V at 298: in PFD; type I: in dbSNP rsrs28935480, MIM: 312060</li><li>Q->R at 343: in PFD; type II, MIM: 312060</li><li>Y->D at 414: in PFD; type III, MIM: 312060</li>								Properdin deficiency (PFD) [MIM:312060]	<li>rs8177076</li><li>rs8177077</li><li>rs8177068</li><li>rs28935480</li>	2
P27930	7850		<li>E->K at 181: in dbSNP rsrs28385682</li><li>E->K at 292: in dbSNP:rs3218976</li>									<li>rs3218976</li><li>rs28385682</li>	2
P27986	5295		<li>M->I at 326: in dbSNP:rs3730089</li><li>R->Q at 409: in severe insulin resistance; reduction of insulin-stimulated activity</li><li>E->K at 451: in dbSNP:rs17852841</li>							<li>P67974</li><li>P67973</li><li>P67971</li><li>P69048</li><li>P01330</li><li>P0C236</li><li>P69047</li><li>P07453</li><li>P42633</li><li>P01324</li><li>P68243</li><li>P01320</li><li>P68992</li><li>P81423</li><li>P01328</li><li>Q9TQY7</li><li>P01340</li><li>P68990</li><li>P67969</li><li>P68991</li><li>P67968</li><li>P68245</li><li>P81881</li><li>P69046</li><li>P01336</li><li>P68988</li><li>P68987</li><li>P01334</li><li>P01316</li><li>P13190</li><li>P01331</li><li>P01314</li><li>P01319</li><li>P09477</li><li>P09476</li><li>P12703</li><li>P29335</li><li>P12704</li><li>P18109</li><li>P68989</li><li>P12708</li>		<li>rs17852841</li><li>rs3730089</li>	2
P27987	3707		<li>A->T at 322: in dbSNP:rs3754413</li><li>S->A at 408: in dbSNP:rs6667260</li><li>P->Q at 552: in dbSNP:rs708776</li>									<li>rs6667260</li><li>rs3754413</li><li>rs708776</li>	2
P28039	313		<li>D->N at 28: in dbSNP:rs11976480</li><li>A->T at 166: in dbSNP:rs3735384</li><li>A->G at 266: in dbSNP:rs3735386</li>									<li>rs11976480</li><li>rs3735384</li><li>rs3735386</li>	2
P28062	5696		<li>G->R at 8: in LMP7C</li><li>PGH->RPD at 30-32: in LPM7C</li>										2
P28067			<li>H->Q at 162: in allele DMA*0103 and allele DMA*0104</li><li>D->H at 163: in allele DMA*0103 and allele DMA*0104</li><li>V->I at 166: in allele DMA*0102 and allele DMA*0104</li><li>G->A at 181: in allele DMA*0103</li><li>R->C at 210: in allele DMA*0104</li><li>R->H at 210: in allele DMA*0103</li>							P28067			2
P28069	5449		<li>Q->R at 4: in dbSNP:rs1051612</li><li>A->V at 19: in dbSNP:rs35182189</li><li>P->L at 24: in CPHD, MIM: 173110</li><li>F->C at 135: in CPHD, MIM: 173110</li><li>R->Q at 143: in CPHD, MIM: 173110</li><li>A->P at 158: in CPHD, MIM: 173110</li><li>E->G at 174: in CPHD, MIM: 173110</li><li>W->R at 193: in CPHD, MIM: 173110</li><li>D->Y at 227: in dbSNP rsrs1131815, MIM: 173110</li><li>P->S at 239: in CPHD; loss of function, MIM: 173110</li><li>R->W at 271: in CPHD, MIM: 173110</li>								Familial combined pituitary hormone deficiency (CPHD) [MIM:173110]	<li>rs1131815</li><li>rs35182189</li><li>rs1051612</li>	2
P28070	5692		<li>M->I at 95: in dbSNP:rs1804241</li><li>I->T at 234: in dbSNP:rs4603</li>									<li>rs4603</li><li>rs1804241</li>	2
P28072	5694		<li>P->A at 107: in dbSNP:rs2304974</li>									rs2304974	2
P28074	5693		<li>R->C at 24: in dbSNP:rs11543947</li>									rs11543947	2
P28161	2946		<li>S->N at 173: in dbSNP:rs2229050</li>									rs2229050	2
P28221	3352		<li>S->L at 265: in dbSNP:rs6299</li>									rs6299	2
P28222	3351		<li>F->C at 124: in dbSNP:rs130060</li><li>F->L at 219: in dbSNP:rs130061</li><li>I->V at 367: in dbSNP:rs130063</li><li>E->K at 374: in dbSNP:rs130064</li>									<li>rs130064</li><li>rs130063</li><li>rs130060</li><li>rs130061</li>	2
P28290	6744		<li>R->W at 833: in dbSNP:rs13419020</li><li>P->L at 836: in dbSNP:rs17647806</li>									<li>rs17647806</li><li>rs13419020</li>	2
P28300	4015		<li>R->Q at 158: in dbSNP:rs1800449</li>									rs1800449	2
P28325	1473		<li>C->R at 46: in 45% of the population; dbSNP:rs1799841</li>									rs1799841	2
P28328	5828		<li>E->K at 55: in IRD, MIM: 266510</li>								Infantile Refsum disease (IRD) [MIM:266510]		2
P28329	1103		<li>D->E at 47: in dbSNP:rs3810948</li><li>A->T at 120: in dbSNP:rs3810950</li><li>L->P at 210: in CMSEA; impaired activity: in dbSNP rsrs28930071, MIM: 254210</li><li>P->A at 211: in CMSEA; impaired activity, MIM: 254210</li><li>R->P at 222: in dbSNP:rs8178989, MIM: 254210</li><li>L->F at 243: in dbSNP:rs8178990, MIM: 254210</li><li>P->L at 299: in dbSNP:rs868749, MIM: 254210</li><li>I->T at 305: in CMSEA; impaired activity: in dbSNP rsrs28929482, MIM: 254210</li><li>I->T at 336: in CMSEA, MIM: 254210</li><li>A->G at 392, MIM: 254210</li><li>D->N at 400: in dbSNP:rs8178991, MIM: 254210</li><li>R->C at 420: in CMSEA; impaired activity, MIM: 254210</li><li>E->K at 441: in CMSEA; completely lack activity: in dbSNP rsrs28930070, MIM: 254210</li><li>M->V at 461: in dbSNP:rs4838544, MIM: 254210</li><li>R->G at 482: in CMSEA; impaired activity: in dbSNP rsrs28929481, MIM: 254210</li><li>S->L at 498: in CMSEA; impaired activity, MIM: 254210</li><li>V->L at 506: in CMSEA; impaired activity, MIM: 254210</li><li>R->H at 560: in CMSEA; impaired activity, MIM: 254210</li>								Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]	<li>rs3810950</li><li>rs8178991</li><li>rs3810948</li><li>rs8178990</li><li>rs28929481</li><li>rs28929482</li><li>rs4838544</li><li>rs8178989</li><li>rs28930071</li><li>rs28930070</li><li>rs868749</li>	2
P28330	33		<li>S->T at 303: in dbSNP:rs1801204</li><li>K->Q at 333: in dbSNP:rs2286963</li>									<li>rs2286963</li><li>rs1801204</li>	2
P28331	4719		<li>R->Q at 241: in dbSNP:rs17856901</li><li>R->W at 241: in complex I deficiency</li><li>D->G at 252: in complex I deficiency</li><li>V->F at 649: in dbSNP:rs1044049</li>							Q07842		<li>rs1044049</li><li>rs17856901</li>	2
P28332	130		<li>C->G at 102: in dbSNP:rs28720152</li><li>I->V at 114: in dbSNP:rs28720153</li><li>T->P at 151: in dbSNP:rs34582580</li>									<li>rs28720152</li><li>rs28720153</li><li>rs34582580</li>	2
P28336	4829		<li>L->M at 390: in dbSNP:rs7453944</li>									rs7453944	2
P28340	5424		<li>R->W at 5: in dbSNP:rs9282830</li><li>R->H at 19: in dbSNP:rs3218773</li><li>G->C at 21: in dbSNP:rs9282831</li><li>R->W at 30: in dbSNP:rs3218772</li><li>R->H at 119: in dbSNP:rs1726801</li><li>S->N at 173: in dbSNP:rs1726803</li><li>R->H at 177: in dbSNP:rs3218750</li><li>P->L at 347: in dbSNP:rs2230243</li><li>R->H at 849: in dbSNP:rs3218775</li><li>R->Q at 1086: in dbSNP:rs3219457</li>									<li>rs1726803</li><li>rs3218773</li><li>rs3218775</li><li>rs2230243</li><li>rs3218750</li><li>rs3218772</li><li>rs9282831</li><li>rs9282830</li><li>rs3219457</li><li>rs1726801</li>	2
P28347			<li>Y->H at 421: in SCRA; dbSNP:rs11567847, MIM: 108985</li>								Sveinsson chorioretinal atrophy (SCRA) [MIM:108985]		2
P28356	3235		<li>Missing at 259</li>										2
P28358	3236		<li>M->K at 319: in CVT; also in Charcot-Marie-Tooth disease-like foot deformities, MIM: 192950</li>								Congenital vertical talus (CVT) [MIM:192950]		2
P28360	4487		<li>M->K at 61: in HYD1, MIM: 106600</li><li>E->V at 78: in OFC5; unilateral, bilateral cleft palate and cleft palate only; Filipino poulation, MIM: 608874</li><li>G->D at 91: in OFC5; cleft palate only; Filipino population, MIM: 608874</li><li>V->G at 114: in OFC5; cleft palate only; Danish population, MIM: 608874</li><li>G->E at 116: in OFC5; bilateral cleft palate; Uruguayan population, MIM: 608874</li><li>R->S at 151: in OFC5; unilateral cleft palate; Japanese population, MIM: 608874</li><li>R->P at 196: in HYD1; severely impairs DNA-binding, MIM: 106600</li>			DNA-binding	GO:0003677			<li>P0ACD8</li><li>Q83RW9</li><li>P0ACD9</li><li>P69740</li><li>P69739</li><li>Q46046</li><li>Q46045</li>	<li>Autosomal dominant hypodontia (HYD1) [MIM:106600]</li><li>Non-syndromic orofacial cleft type 5 (OFC5) [MIM:608874]</li>		2
P28472	2562		<li>G->R at 32: in ECA5; the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type, MIM: 612269</li><li>Q->L at 173: in dbSNP:rs17850679, MIM: 612269</li><li>R->H at 217: in insomnia; functional analysis reveals a slower rate of the fast phase of desensitization compared with alpha1beta3gamma2S GABA, MIM: 612269</li>								Childhood absence epilepsy type 5 (ECA5) [MIM:612269]	rs17850679	2
P28562	1843		<li>A->T at 56: in dbSNP rsrs34013988</li><li>Y->H at 187: in dbSNP:rs34471628</li>									<li>rs34471628</li><li>rs34013988</li>	2
P28566	3354		<li>A->T at 208: in dbSNP:rs3828741</li><li>S->F at 262: in dbSNP:rs6303</li>									<li>rs3828741</li><li>rs6303</li>	2
P28676	25801		<li>S->A at 80: in dbSNP:rs17783344</li>									rs17783344	2
P28698	7593		<li>R->H at 51: in dbSNP:rs3752109</li><li>R->H at 103: in dbSNP:rs3752110</li><li>R->Q at 130: in dbSNP:rs3752111</li><li>I->V at 331: in dbSNP:rs4756</li><li>R->P at 441: in dbSNP:rs2229255</li>									<li>rs2229255</li><li>rs3752109</li><li>rs4756</li><li>rs3752111</li><li>rs3752110</li>	2
P28715	2073		<li>P->H at 72: in XP-G; combined with features of Cockayne syndrome, MIM: 278780</li><li>V->I at 145: in dbSNP:rs4987063, MIM: 278780</li><li>H->R at 181: in dbSNP:rs4150295, MIM: 278780</li><li>M->V at 254: in dbSNP:rs1047769, MIM: 278780</li><li>Q->R at 256: in dbSNP:rs4150313, MIM: 278780</li><li>S->C at 311: in dbSNP:rs2307491, MIM: 278780</li><li>E->K at 399: in dbSNP rsrs4150315, MIM: 278780</li><li>C->S at 529: in dbSNP:rs2227869, MIM: 278780</li><li>V->I at 590: in dbSNP rsrs4150318, MIM: 278780</li><li>V->L at 597: in dbSNP rsrs4150319, MIM: 278780</li><li>F->L at 670: in dbSNP:rs1803542, MIM: 278780</li><li>Q->R at 680: in dbSNP:rs4987168, MIM: 278780</li><li>A->V at 792: in XP-G; mild form, MIM: 278780</li><li>L->P at 858: in XP-G; reduced stability and greatly impaired endonuclease activity, MIM: 278780</li><li>A->T at 874: in XP-G; mild form; residual activity: in dbSNP rsrs28929496, MIM: 278780</li><li>N->S at 879: in dbSNP:rs4150342, MIM: 278780</li><li>R->H at 1009: in dbSNP rsrs4150387, MIM: 278780</li><li>G->R at 1053: in dbSNP:rs9514066, MIM: 278780</li><li>G->Q at 1080, MIM: 278780</li><li>G->R at 1080: in dbSNP:rs9514067, MIM: 278780</li><li>D->H at 1104: in dbSNP:rs17655, MIM: 278780</li><li>A->V at 1119: in dbSNP:rs2227871, MIM: 278780</li>							<li>P04323</li><li>P20825</li><li>P10399</li><li>P10978</li><li>P00641</li><li>Q00962</li><li>P38446</li><li>P15629</li><li>P13717</li><li>P05400</li><li>P03554</li><li>P03556</li><li>Q03269</li><li>P03555</li><li>Q03277</li><li>P10394</li><li>Q03278</li><li>Q03275</li><li>Q05118</li><li>Q03276</li><li>P11283</li><li>P16423</li><li>Q03273</li><li>Q03274</li><li>Q03271</li><li>Q03272</li><li>P09523</li><li>P11369</li><li>Q8I7P9</li><li>Q03270</li><li>P11367</li><li>Q02964</li><li>P10400</li><li>P20314</li><li>Q03279</li><li>P10401</li>	Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]	<li>rs4150318</li><li>rs4150387</li><li>rs4150319</li><li>rs4150295</li><li>rs1047769</li><li>rs17655</li><li>rs4150342</li><li>rs4987063</li><li>rs2227869</li><li>rs2307491</li><li>rs2227871</li><li>rs9514067</li><li>rs1803542</li><li>rs9514066</li><li>rs4150315</li><li>rs4987168</li><li>rs28929496</li><li>rs4150313</li>	2
P28799	2896		<li>A->D at 9: in UP-FTD; no significant difference in the total mRNA between cases and controls; although the mutant protein is expressed it is not secreted and appears to be trapped within an intracellular compartment, MIM: 607485</li><li>G->A at 515: in dbSNP:rs25647, MIM: 607485</li>					intracellular	GO:0005622		Ubiquitin-positive frontotemporal dementia (UP-FTD) [MIM:607485]	rs25647	2
P28827	5797		<li>S->R at 39: in dbSNP:rs35224276</li>									rs35224276	2
P28906	947		<li>A->S at 367: in dbSNP:rs28362497</li>									rs28362497	2
P28908	943		<li>C->F at 273: in dbSNP:rs2230624</li><li>C->Y at 273</li><li>C->R at 297: in dbSNP:rs1763642</li><li>P->S at 314: in dbSNP:rs2275170</li><li>S->G at 402: in dbSNP:rs2230625</li><li>Q->R at 466: in dbSNP:rs35511003</li>									<li>rs35511003</li><li>rs1763642</li><li>rs2230624</li><li>rs2230625</li><li>rs2275170</li>	2
P29017	911		<li>N->T at 70: in dbSNP:rs3138100</li><li>F->S at 300: in dbSNP:rs3138105</li>									<li>rs3138105</li><li>rs3138100</li>	2
P29033	2706		<li>G->R at 12: in KID syndrome, MIM: 148210</li><li>S->F at 17: in KID syndrome; dbSNP:rs28929485, MIM: 148210</li><li>V->I at 27: in dbSNP:rs2274084, MIM: 148210</li><li>R->H at 32: in DFNB1, MIM: 220290</li><li>R->L at 32, MIM: 220290</li><li>M->T at 34: in dbSNP:rs35887622, MIM: 220290</li><li>V->I at 37: in DFNB1; was reported first as a polymorphism, MIM: 220290</li><li>W->C at 44: in DFNA3, MIM: 601544</li><li>W->S at 44: in DFNA3; does not affect protein trafficking; affects the ability to form functional channels; dominant negative effect, MIM: 601544</li><li>G->E at 45: in deafness, MIM: 601544</li><li>DEQ->E at 46-48: may contribute to deafness, MIM: 601544</li><li>D->N at 50: in KID syndrome and HID syndrome; dbSNP:rs28931594, MIM: 148210</li><li>D->Y at 50: in KID syndrome: in dbSNP rsrs28931594, MIM: 148210</li><li>N->K at 54: in BPS, MIM: 149200</li><li>G->A at 59: in PPKDFN; impairs trafficking; localizes intracellularly closed to the nucleus; affects the ability to form functional channels; phenotype can be rescued by coexpression with wild-type protein, MIM: 148350</li><li>G->S at 59: in BPS, MIM: 149200</li><li>D->H at 66: in VS and PPKDFN; impairs trafficking; localizes intracellularly closed to the nucleus; affects the ability to form functional channels; phenotype can be rescued by coexpression with wild-type protein, MIM: 124500</li><li>I->T at 71: in deafness, MIM: 124500</li><li>R->Q at 75: in PPKDFN: in dbSNP rsrs28931593, MIM: 148350</li><li>R->W at 75: in PPKDFN and DFNA3; does not affect protein trafficking; affects the ability to form functional channels; dominant negative effect, MIM: 148350</li><li>W->R at 77: in DFNB1, MIM: 220290</li><li>L->P at 79: in DFNB1, MIM: 220290</li><li>Q->K at 80: in DFNB1, MIM: 220290</li><li>F->L at 83, MIM: 220290</li><li>V->L at 84: in DFNB1, MIM: 220290</li><li>T->R at 86: in deafness, MIM: 220290</li><li>L->P at 90: in DFNB1, MIM: 220290</li><li>M->I at 93: in DFNB1, MIM: 220290</li><li>V->M at 95: in DFNB1, MIM: 220290</li><li>I->T at 111, MIM: 220290</li><li>S->R at 113: in DFNB1, MIM: 220290</li><li>E->G at 114: in dbSNP:rs2274083, MIM: 220290</li><li>Missing  at 120: in DFNB1, MIM: 220290</li><li>T->N at 123, MIM: 220290</li><li>R->H at 127: very common polymorphism in India, MIM: 220290</li><li>E->K at 129: in DFNB1, MIM: 220290</li><li>R->Q at 143: in DFNA3, MIM: 601544</li><li>R->W at 143: in DFNB1, MIM: 220290</li><li>V->I at 153: may contribute to deafness, MIM: 220290</li><li>D->V at 159: in DFNB1; dbSNP:rs28931592, MIM: 220290</li><li>G->S at 160: in dbSNP:rs34988750, MIM: 220290</li><li>R->W at 165, MIM: 220290</li><li>V->M at 167: may contribute to deafness, MIM: 220290</li><li>C->Y at 169, MIM: 220290</li><li>V->A at 178: in DFNB1, MIM: 220290</li><li>D->N at 179: in DFNA3; dbSNP:rs28931595, MIM: 601544</li><li>R->P at 184: in DFNB1, MIM: 220290</li><li>R->Q at 184: in DFNA3, MIM: 601544</li><li>R->W at 184: in deafness, MIM: 601544</li><li>F->L at 191, MIM: 601544</li><li>A->S at 197: in DFNA3, MIM: 601544</li><li>C->F at 202: in DFNA3, MIM: 601544</li><li>I->K at 203: in DFNB1, MIM: 220290</li><li>I->T at 203, MIM: 220290</li><li>L->P at 214: in DFNB1, MIM: 220290</li>					nucleus	GO:0005634	Q14807	<li>Bart-Pumphrey syndrome (BPS) [MIM:149200]</li><li>Non-syndromic sensorineural deafness autosomal recessive type 1 (DFNB1) [MIM:220290]</li><li>Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210]</li><li>Palmoplantar keratoderma with deafness (PPKDFN) [MIM:148350]</li><li>Non-syndromic sensorineural deafness autosomal dominant type 3 (DFNA3) [MIM:601544]</li><li>Vohwinkel syndrome (VS) [MIM:124500]</li><li>Ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:602540]</li>	<li>rs2274083</li><li>rs34988750</li><li>rs2274084</li><li>rs28929485</li><li>rs28931594</li><li>rs28931595</li><li>rs28931593</li><li>rs28931592</li><li>rs35887622</li>	2
P29083	2960		<li>P->S at 366: in dbSNP:rs3732401</li>									rs3732401	2
P29084	2961		<li>I->T at 133: in dbSNP:rs2229299</li><li>K->R at 183: in dbSNP:rs2978277</li>									<li>rs2978277</li><li>rs2229299</li>	2
P29120	5122		<li>R->Q at 80: in dbSNP:rs1799904</li><li>Missing  at 213: in PC1 deficiency</li><li>N->D at 221: associated with susceptibility to obesity; induces a 10.4% reduction of activity : in dbSNP rsrs6232</li><li>S->L at 307: in PC1 deficiency; in vitro the mutation markedly impairs the catalytic activity of the enzyme; however intracellular trafficking of this mutant enzyme appears normal; retains some autocatalytic activity even though it is completely inactive on other substrates</li><li>G->R at 483: in PC1 deficiency; prevents processing of pro-PCSK1 and leads to its retention in the endoplasmic reticulum, MIM: 600955</li><li>Q->E at 665: in dbSNP:rs6234, MIM: 600955</li><li>S->T at 690: in dbSNP:rs6235, MIM: 600955</li>			catalytic activity	GO:0003824	<li>intracellular</li><li>endoplasmic reticulum</li>	<li>GO:0005622</li><li>GO:0005783</li>	<li>P22413</li><li>P28840</li><li>P63239</li><li>Q9GLR1</li><li>P63240</li><li>P29120</li>	Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]	<li>rs6232</li><li>rs6235</li><li>rs6234</li><li>rs1799904</li>	2
P29122	5046		<li>C->R at 502: in dbSNP:rs1058260</li>									rs1058260	2
P29274	135		<li>A->V at 50: in dbSNP:rs4530</li><li>R->H at 300: in dbSNP:rs4990</li><li>G->R at 392</li>									<li>rs4530</li><li>rs4990</li>	2
P29279			<li>H->D at 83: in dbSNP:rs7451102</li>									rs7451102	2
P29317	1969		<li>G->R at 391: in dbSNP rsrs34192549</li><li>T->M at 511: in dbSNP rsrs55747232</li><li>R->H at 568: in dbSNP rsrs56198600</li><li>G->S at 777: in a gastric adenocarcinoma sample; somatic mutation</li><li>R->H at 876: in dbSNP rsrs35903225</li>									<li>rs35903225</li><li>rs34192549</li><li>rs56198600</li><li>rs55747232</li>	2
P29320	2042		<li>T->K at 37: in a colorectal cancer sample; somatic mutation</li><li>N->S at 85: in a colorectal cancer sample; somatic mutation</li><li>S->Y at 229: in a lung large cell carcinoma sample; somatic mutation</li><li>S->F at 449: in a lung neuroendocrine carcinoma sample; somatic mutation</li><li>G->L at 518: in a lung squamous cell carcinoma sample; somatic mutation; requires 2 nucleotide substitutions</li><li>I->V at 564: in dbSNP rsrs55712516</li><li>C->S at 568: in dbSNP rsrs56077781</li><li>L->P at 590: in dbSNP rsrs56081642</li><li>I->L at 621: in a colorectal cancer sample; somatic mutation</li><li>G->E at 766: in a lung adenocarcinoma sample; somatic mutation</li><li>A->G at 777: in dbSNP rsrs34437982</li><li>D->N at 806: in a colorectal cancer sample; somatic mutation</li><li>R->H at 914: in dbSNP:rs17801309</li><li>W->R at 924: in dbSNP:rs35124509</li>									<li>rs35124509</li><li>rs34437982</li><li>rs55712516</li><li>rs56077781</li><li>rs17801309</li><li>rs56081642</li>	2
P29322	2046		<li>G->S at 45: in dbSNP rsrs45498698</li><li>V->L at 60: in dbSNP rsrs56402644</li><li>N->K at 123: in a breast infiltrating ductal carcinoma sample; somatic mutation</li><li>R->C at 179: in a gastric adenocarcinoma sample; somatic mutation</li><li>R->L at 198: in a lung adenocarcinoma sample; somatic mutation</li><li>V->M at 444: in dbSNP:rs2295021</li><li>E->Q at 612: in dbSNP:rs999765</li><li>P->L at 860: in a metastatic melanoma sample; somatic mutation</li>									<li>rs2295021</li><li>rs56402644</li><li>rs999765</li><li>rs45498698</li>	2
P29323	2048		<li>R->H at 199: in prostate cancer</li><li>A->S at 279: in prostate cancer; dbSNP:rs35882952</li><li>C->G at 289</li><li>I->V at 361: in dbSNP rsrs56180036</li><li>V->A at 650: in prostate cancer</li><li>D->N at 678: in dbSNP rsrs28936395</li><li>H->N at 679: in prostate cancer</li><li>R->W at 844: in dbSNP rsrs55826626</li><li>M->V at 883: in prostate cancer</li><li>I->M at 909: in prostate cancer</li>									<li>rs28936395</li><li>rs35882952</li><li>rs56180036</li><li>rs55826626</li>	2
P29353	6464		<li>A->V at 205: in dbSNP:rs8191981</li><li>M->V at 410: in dbSNP:rs8191979</li>									<li>rs8191979</li><li>rs8191981</li>	2
P29371	6870		<li>K->R at 286: in dbSNP:rs2276973</li><li>A->T at 449: in dbSNP:rs17033889</li>									<li>rs2276973</li><li>rs17033889</li>	2
P29372	4350		<li>K->Q at 22: in dbSNP:rs3176383</li><li>P->L at 64: in dbSNP:rs2308315</li><li>Y->H at 71: in dbSNP:rs2266607</li><li>Q->R at 93: in dbSNP:rs25671</li><li>R->C at 120: in dbSNP:rs2308313</li><li>R->Q at 141: in dbSNP:rs2308312</li><li>A->V at 258: in dbSNP:rs769193</li><li>A->S at 298: in dbSNP:rs2234949</li>									<li>rs2234949</li><li>rs769193</li><li>rs2308315</li><li>rs2266607</li><li>rs2308313</li><li>rs2308312</li><li>rs25671</li><li>rs3176383</li>	2
P29374	5926		<li>H->P at 412: in dbSNP:rs34982206</li><li>N->S at 724: in dbSNP:rs2230098</li><li>T->A at 779: in dbSNP:rs1051858</li>									<li>rs1051858</li><li>rs34982206</li><li>rs2230098</li>	2
P29375	5927		<li>M->T at 865: in dbSNP:rs11062385</li><li>P->A at 1190: in dbSNP:rs2229353</li>									<li>rs2229353</li><li>rs11062385</li>	2
P29376	4058		<li>R->Q at 42: in dbSNP:rs2305030</li><li>C->R at 384: in dbSNP rsrs55683312</li><li>D->N at 535: in dbSNP rsrs35932273</li><li>R->S at 569</li><li>R->Q at 673: in dbSNP rsrs55876255</li><li>P->S at 745: in dbSNP rsrs55900837</li><li>P->S at 838: in dbSNP rsrs56367146</li>									<li>rs55683312</li><li>rs55876255</li><li>rs55900837</li><li>rs35932273</li><li>rs2305030</li><li>rs56367146</li>	2
P29400	1287		<li>G->D at 54: in APSX; adult type, MIM: 301050</li><li>G->S at 114: in APSX, MIM: 301050</li><li>G->E at 129: in APSX; juvenile type, MIM: 301050</li><li>G->V at 129: in APSX; juvenile type, MIM: 301050</li><li>G->R at 174: in APSX, MIM: 301050</li><li>G->C at 177: in APSX; presenting with dot-and-fleck retinopathy, MIM: 301050</li><li>G->R at 177: in APSX; adult type, MIM: 301050</li><li>G->R at 192: in APSX, MIM: 301050</li><li>G->V at 204: in APSX; juvenile type, MIM: 301050</li><li>G->R at 216: in APSX; juvenile type, MIM: 301050</li><li>G->S at 219: in APSX, MIM: 301050</li><li>G->R at 230: in APSX; juvenile type, MIM: 301050</li><li>G->E at 239: in APSX, MIM: 301050</li><li>G->R at 264: in APSX; adult type, MIM: 301050</li><li>G->V at 289: in APSX; juvenile type, MIM: 301050</li><li>G->R at 292: in APSX, MIM: 301050</li><li>G->V at 292: in APSX; juvenile type, MIM: 301050</li><li>G->D at 295: in APSX, MIM: 301050</li><li>G->S at 298: in APSX, MIM: 301050</li><li>G->R at 319: in APSX; juvenile type, MIM: 301050</li><li>G->E at 325: in APSX, MIM: 301050</li><li>G->R at 325: in APSX; juvenile and adult types, MIM: 301050</li><li>G->V at 331: in APSX, MIM: 301050</li><li>Missing  at 365-367: in APSX; juvenile type, MIM: 301050</li><li>G->E at 365: in APSX; juvenile type, MIM: 301050</li><li>G->E at 371: in APSX; juvenile type, MIM: 301050</li><li>G->A at 374: in APSX, MIM: 301050</li><li>G->D at 383: in APSX; juvenile type, MIM: 301050</li><li>G->E at 400: in APSX; adult type, MIM: 301050</li><li>G->V at 406: in APSX; adult type, MIM: 301050</li><li>G->D at 409: in APSX, MIM: 301050</li><li>G->V at 412: in APSX; adult type, MIM: 301050</li><li>G->R at 415: in APSX, MIM: 301050</li><li>G->E at 420: in APSX; juvenile type, MIM: 301050</li><li>G->V at 420: in APSX, MIM: 301050</li><li>G->E at 423: in APSX, MIM: 301050</li><li>A->D at 430, MIM: 301050</li><li>I->S at 444: in dbSNP:rs2272946, MIM: 301050</li><li>Missing  at 456-458: in APSX, MIM: 301050</li><li>G->E at 466: in APSX, MIM: 301050</li><li>G->R at 472: in APSX, MIM: 301050</li><li>G->E at 491: in APSX; juvenile type, MIM: 301050</li><li>G->D at 494: in APSX; adult type, MIM: 301050</li><li>Missing  at 496-507: in APSX; juvenile type, MIM: 301050</li><li>G->C at 497: in APSX; adult type, MIM: 301050</li><li>G->C at 521: in APSX, MIM: 301050</li><li>G->S at 521: in APSX, MIM: 301050</li><li>G->D at 524: in APSX; adult type, MIM: 301050</li><li>G->R at 545: in APSX, MIM: 301050</li><li>G->V at 545: in APSX, MIM: 301050</li><li>G->R at 558: in APSX, MIM: 301050</li><li>G->R at 561: in APSX, MIM: 301050</li><li>G->A at 567: in APSX; juvenile type, MIM: 301050</li><li>G->D at 573: in APSX, MIM: 301050</li><li>G->E at 579: in APSX, MIM: 301050</li><li>G->R at 579: in APSX; adult type, MIM: 301050</li><li>G->V at 603: in APSX, MIM: 301050</li><li>G->R at 609: in APSX; juvenile type, MIM: 301050</li><li>G->V at 609: in APSX; juvenile type, MIM: 301050</li><li>P->S at 619, MIM: 301050</li><li>G->C at 621: in APSX, MIM: 301050</li><li>G->D at 624: in APSX, MIM: 301050</li><li>G->D at 629: in APSX, MIM: 301050</li><li>G->D at 632: in APSX, MIM: 301050</li><li>E->K at 633: in APSX, MIM: 301050</li><li>G->D at 635: in APSX, MIM: 301050</li><li>G->A at 638: in APSX, MIM: 301050</li><li>G->S at 638: in APSX; juvenile type, MIM: 301050</li><li>G->V at 638: in APSX, MIM: 301050</li><li>G->R at 653: in APSX; juvenile type, MIM: 301050</li><li>K->N at 664: in dbSNP:rs34077552, MIM: 301050</li><li>G->A at 669: in APSX; juvenile type, MIM: 301050</li><li>G->D at 681: in APSX, MIM: 301050</li><li>G->V at 684: in APSX; adult type, MIM: 301050</li><li>G->E at 687: in APSX, MIM: 301050</li><li>G->E at 722: in APSX, MIM: 301050</li><li>P->A at 739, MIM: 301050</li><li>P->S at 739: in APSX; juvenile type, MIM: 301050</li><li>G->E at 740: in APSX; juvenile type, MIM: 301050</li><li>G->D at 743: in APSX, MIM: 301050</li><li>G->D at 772: in APSX; juvenile type, MIM: 301050</li><li>G->R at 796: in APSX, MIM: 301050</li><li>Missing  at 802-807: in APSX, MIM: 301050</li><li>G->R at 802: in APSX, MIM: 301050</li><li>G->E at 808: in APSX; adult type, MIM: 301050</li><li>G->V at 811: in APSX; juvenile type, MIM: 301050</li><li>Missing  at 822-824: in APSX, MIM: 301050</li><li>G->R at 822: in APSX, MIM: 301050</li><li>G->E at 852: in APSX; juvenile type, MIM: 301050</li><li>G->R at 852: in APSX, MIM: 301050</li><li>Missing  at 864-875: in APSX, MIM: 301050</li><li>G->E at 866: in APSX; adult type, MIM: 301050</li><li>G->R at 869: in APSX; juvenile type, MIM: 301050</li><li>G->R at 872: in APSX, MIM: 301050</li><li>G->R at 878: in APSX, MIM: 301050</li><li>M->V at 898: in APSX; mild phenotype, MIM: 301050</li><li>G->V at 902: in APSX; juvenile type, MIM: 301050</li><li>G->E at 911: in APSX, MIM: 301050</li><li>G->C at 941: in APSX, MIM: 301050</li><li>Missing  at 942: in APSX, MIM: 301050</li><li>G->D at 947: in APSX, MIM: 301050</li><li>G->V at 953: in APSX; found on the same allele as variant Glu-1211, MIM: 301050</li><li>Missing  at 988-992: in APSX; adult type, MIM: 301050</li><li>G->A at 1006: in APSX, MIM: 301050</li><li>G->V at 1006: in APSX, MIM: 301050</li><li>G->E at 1015: in APSX, MIM: 301050</li><li>G->V at 1015: in APSX, MIM: 301050</li><li>G->S at 1030: in APSX, MIM: 301050</li><li>G->V at 1036: in APSX, MIM: 301050</li><li>G->S at 1039: in APSX; juvenile type, MIM: 301050</li><li>G->E at 1045: in APSX, MIM: 301050</li><li>G->R at 1066: in APSX, MIM: 301050</li><li>G->S at 1066: in APSX, MIM: 301050</li><li>G->D at 1086: in APSX, MIM: 301050</li><li>G->V at 1104: in APSX, MIM: 301050</li><li>G->R at 1107: in APSX, MIM: 301050</li><li>G->D at 1143: in APSX; juvenile type, MIM: 301050</li><li>G->S at 1143: in APSX; adult type, MIM: 301050</li><li>G->R at 1158: in APSX, MIM: 301050</li><li>G->R at 1161: in APSX, MIM: 301050</li><li>G->S at 1167: in APSX, MIM: 301050</li><li>G->S at 1170: in APSX, MIM: 301050</li><li>G->R at 1182: in APSX; juvenile type, MIM: 301050</li><li>G->R at 1196: in APSX, MIM: 301050</li><li>G->C at 1205: in APSX; juvenile type, MIM: 301050</li><li>G->E at 1211: in APSX; found on the same allele as variant Val-953, MIM: 301050</li><li>G->R at 1211: in APSX, MIM: 301050</li><li>G->D at 1220: in APSX, MIM: 301050</li><li>G->D at 1229: in APSX; adult type, MIM: 301050</li><li>G->C at 1241: in APSX, MIM: 301050</li><li>G->D at 1244: in APSX, MIM: 301050</li><li>G->S at 1252: in APSX; adult type, MIM: 301050</li><li>G->E at 1261: in APSX, MIM: 301050</li><li>G->S at 1270: in APSX, MIM: 301050</li><li>G->S at 1333: in APSX, MIM: 301050</li><li>G->S at 1357: in APSX, MIM: 301050</li><li>G->V at 1379: in APSX; adult type, MIM: 301050</li><li>R->C at 1410: in APSX; adult and juvenile types, MIM: 301050</li><li>G->W at 1421: in APSX; adult type, MIM: 301050</li><li>R->C at 1422: in APSX; juvenile type, MIM: 301050</li><li>G->V at 1427: in APSX; adult type, MIM: 301050</li><li>L->M at 1428, MIM: 301050</li><li>G->D at 1442: in APSX, MIM: 301050</li><li>G->S at 1451: in APSX, MIM: 301050</li><li>G->A at 1486: in APSX; adult type, MIM: 301050</li><li>S->F at 1488: in APSX, MIM: 301050</li><li>A->D at 1498: in APSX, MIM: 301050</li><li>R->H at 1511: in APSX; juvenile type; could be a non pathogenic variant, MIM: 301050</li><li>P->T at 1517: in APSX; juvenile type, MIM: 301050</li><li>W->S at 1538: in APSX; adult type, MIM: 301050</li><li>P->A at 1559, MIM: 301050</li><li>R->Q at 1563: in APSX, MIM: 301050</li><li>C->S at 1564: in APSX; adult type, MIM: 301050</li><li>C->R at 1567: in APSX; juvenile type, MIM: 301050</li><li>G->D at 1596: in APSX, MIM: 301050</li><li>Missing  at 1597-1685: in APSX, MIM: 301050</li><li>L->R at 1649: in APSX; adult type, MIM: 301050</li><li>R->P at 1677: in APSX, MIM: 301050</li><li>R->Q at 1677: in APSX, MIM: 301050</li><li>C->W at 1678: in APSX, MIM: 301050</li><li>Missing  at 1679-1685: in APSX, MIM: 301050</li>							P00864	Alport syndrome X-linked (APSX) [MIM:301050]	<li>rs34077552</li><li>rs2272946</li>	2
P29401	7086		<li>I->V at 181: in dbSNP:rs17052920</li>									rs17052920	2
P29460	3593		<li>V->I at 33: in dbSNP:rs3213096</li><li>V->F at 298: in dbSNP:rs3213119</li>									<li>rs3213119</li><li>rs3213096</li>	2
P29474	4846		<li>R->Q at 112: in dbSNP:rs3918166</li><li>E->D at 298: in susceptibility to coronary spasm; dbSNP:rs1799983</li><li>R->C at 474: in a colorectal cancer sample; somatic mutation</li><li>R->Q at 602: in a colorectal cancer sample; somatic mutation</li><li>V->M at 827: in dbSNP:rs3918232</li><li>R->M at 885: in dbSNP:rs3918201</li><li>Q->L at 982: in dbSNP:rs3918234</li>									<li>rs3918201</li><li>rs1799983</li><li>rs3918232</li><li>rs3918166</li><li>rs3918234</li>	2
P29475	4842		<li>P->S at 228: in dbSNP:rs9658279</li><li>D->A at 394: in dbSNP:rs9658356</li><li>N->D at 725: in dbSNP:rs9658403</li><li>G->D at 864: in dbSNP:rs9658445</li><li>Q->R at 1064: in dbSNP:rs9658482</li>									<li>rs9658403</li><li>rs9658445</li><li>rs9658482</li><li>rs9658356</li><li>rs9658279</li>	2
P29536	25802		<li>T->M at 295: in dbSNP:rs2820312</li>									rs2820312	2
P29597	7297		<li>R->C at 4: in dbSNP:rs35163004</li><li>R->H at 4: in dbSNP:rs12720343</li><li>A->V at 81: in dbSNP:rs1049619</li><li>R->H at 197: in dbSNP:rs12720263</li><li>V->F at 362: in dbSNP:rs2304256</li><li>G->S at 363: in dbSNP:rs2304255</li><li>V->M at 386: in dbSNP rsrs55956017</li><li>R->Q at 442: in dbSNP:rs2304254</li><li>I->S at 684: in dbSNP:rs12720356</li><li>R->W at 703: in dbSNP rsrs55882956</li><li>H->R at 732: in a colorectal adenocarcinoma sample; somatic mutation</li><li>P->H at 820: in dbSNP:rs34046749</li><li>A->V at 928: in dbSNP:rs35018800</li><li>P->A at 1104: in dbSNP:rs34536443</li><li>E->G at 1163: in dbSNP rsrs55886939</li>									<li>rs55882956</li><li>rs34536443</li><li>rs55956017</li><li>rs34046749</li><li>rs2304255</li><li>rs2304256</li><li>rs2304254</li><li>rs12720343</li><li>rs12720263</li><li>rs12720356</li><li>rs1049619</li><li>rs35163004</li><li>rs35018800</li><li>rs55886939</li>	2
P29803	5161		<li>M->L at 280: in dbSNP:rs2229137</li><li>R->G at 376: in dbSNP:rs17024795</li>									<li>rs17024795</li><li>rs2229137</li>	2
P29965	959		<li>M->R at 36: in HIGM1, MIM: 308230</li><li>G->R at 38: in HIGM1, MIM: 308230</li><li>G->R at 116: in HIGM1, MIM: 308230</li><li>G->S at 116: in HIGM1, MIM: 308230</li><li>A->E at 123: in HIGM1, MIM: 308230</li><li>H->R at 125: in HIGM1, MIM: 308230</li><li>V->A at 126: in HIGM1, MIM: 308230</li><li>V->D at 126: in HIGM1, MIM: 308230</li><li>SE->RG at 128-129: in HIGM1, MIM: 308230</li><li>W->C at 140: in HIGM1, MIM: 308230</li><li>W->G at 140: in HIGM1, MIM: 308230</li><li>W->R at 140: in HIGM1, MIM: 308230</li><li>K->T at 143: in HIGM1, MIM: 308230</li><li>G->E at 144: in HIGM1, MIM: 308230</li><li>T->N at 147: in HIGM1, MIM: 308230</li><li>L->P at 155: in HIGM1, MIM: 308230</li><li>Y->C at 170: in HIGM1, MIM: 308230</li><li>A->D at 173: in HIGM1, MIM: 308230</li><li>Q->R at 174: in HIGM1, MIM: 308230</li><li>T->I at 176: in HIGM1, MIM: 308230</li><li>L->P at 195: in HIGM1, MIM: 308230</li><li>A->D at 208: in HIGM1, MIM: 308230</li><li>T->N at 211: in HIGM1, MIM: 308230</li><li>G->R at 219, MIM: 308230</li><li>H->Y at 224: in HIGM1, MIM: 308230</li><li>G->A at 226: in HIGM1, MIM: 308230</li><li>G->V at 227: in HIGM1, MIM: 308230</li><li>Missing  at 227: in HIGM1, MIM: 308230</li><li>L->S at 231: in HIGM1, MIM: 308230</li><li>A->P at 235: in HIGM1, MIM: 308230</li><li>V->E at 237: in HIGM1, MIM: 308230</li><li>T->M at 254: in HIGM1, MIM: 308230</li><li>G->D at 257: in HIGM1, MIM: 308230</li><li>G->S at 257: in HIGM1, MIM: 308230</li><li>L->S at 258: in HIGM1, MIM: 308230</li>								X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]		2
P29966	4082		<li>P->L at 250: in dbSNP rsrs45593337</li><li>A->V at 274: in dbSNP rsrs3734458</li>									<li>rs3734458</li><li>rs45593337</li>	2
P29972	358		<li>P->L at 38: in Co</li><li>A->V at 45: in Co: in dbSNP rsrs28362692</li><li>G->D at 165: in dbSNP:rs28362731</li>									<li>rs28362692</li><li>rs28362731</li>	2
P29973	1259		<li>R->Q at 28</li><li>D->N at 114</li><li>N->D at 118: in dbSNP:rs28642966</li><li>S->F at 316: in ARRP, MIM: 268000</li>								Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]	rs28642966	2
P30038	8659		<li>P->L at 16: in allele ALDH4A1*4</li><li>S->L at 352: in HPII; allele ALDH4A1*3, MIM: 239510</li><li>V->I at 470: in dbSNP:rs2230709, MIM: 239510</li><li>T->A at 473: in dbSNP:rs6695033, MIM: 239510</li>							P30038	Hyperprolinemia type II (HPII) [MIM:239510]	<li>rs6695033</li><li>rs2230709</li>	2
P30039	64081		<li>R->C at 17: in dbSNP:rs12359690</li><li>H->R at 257: in dbSNP:rs4142048</li>									<li>rs12359690</li><li>rs4142048</li>	2
P30042	8209		<li>V->A at 6: in dbSNP:rs968714</li><li>V->M at 148: in dbSNP:rs17264865</li><li>L->V at 248: in dbSNP:rs2838497</li>									<li>rs968714</li><li>rs2838497</li><li>rs17264865</li>	2
P30043	645		<li>R->Q at 46: in dbSNP:rs11547746</li>									rs11547746	2
P30048	10935		<li>S->R at 55: in dbSNP rsrs34698541</li><li>A->T at 218: in dbSNP rsrs36064375</li><li>T->I at 234: in dbSNP:rs35697338</li>									<li>rs35697338</li><li>rs36064375</li><li>rs34698541</li>	2
P30084	1892		<li>V->A at 11: in dbSNP:rs10466126</li><li>T->I at 75: in dbSNP:rs1049951</li>									<li>rs10466126</li><li>rs1049951</li>	2
P30086	5037		<li>S->N at 9</li>										2
P30153	5518		<li>H->R at 87: in lung</li>										2
P30154	5519		<li>G->R at 8: in a lung cancer patient</li><li>G->A at 15: in a colorectal cancer patient</li><li>P->S at 65: in a lung cancer patient</li><li>G->D at 90: in a lung cancer patient; dbSNP:rs1805076</li><li>L->P at 101: in a colon adenocarcinoma</li><li>K->E at 343: in a lung cancer patient</li><li>S->P at 365: in a colorectal cancer patient</li><li>V->A at 448: in a colon adenocarcinoma</li><li>V->E at 498: in a colorectal cancer patient</li><li>L->I at 499: in a colorectal cancer patient</li><li>V->G at 500: in a colorectal cancer patient</li><li>D->G at 504: in a lung cancer patient</li><li>V->A at 545: in a colon adenocarcinoma</li>									rs1805076	2
P30260	996		<li>G->A at 270: in a breast cancer sample; somatic mutation</li><li>S->P at 320: in dbSNP:rs3208653</li><li>Y->H at 496: in dbSNP:rs13666</li>									<li>rs3208653</li><li>rs13666</li>	2
P30279	894		<li>G->R at 268: in dbSNP:rs3217921</li>									rs3217921	2
P30281	896		<li>P->S at 134: in dbSNP:rs3218089</li><li>E->D at 253: in dbSNP:rs33966734</li><li>S->A at 259: in dbSNP:rs1051130</li>									<li>rs33966734</li><li>rs3218089</li><li>rs1051130</li>	2
P30301	4284		<li>E->G at 134: in cataract; uni-lamellar which is stable after birth; loss of activity</li><li>T->R at 138: in cataract; multi-focal opacities which increase throughout life; loss of activity</li>										2
P30305	994		<li>E->K at 548: in dbSNP:rs11570019</li>									rs11570019	2
P30411	624		<li>R->C at 14: in dbSNP:rs1046248</li><li>G->E at 354: in dbSNP:rs2227279</li>									<li>rs1046248</li><li>rs2227279</li>	2
P30414	4820		<li>L->V at 861: in dbSNP:rs33969824</li><li>S->L at 935: in dbSNP:rs35770315</li>									<li>rs35770315</li><li>rs33969824</li>	2
P30443			<li>F->S at 33: in allele A*0102</li><li>R->S at 41: in allele A*0102</li><li>G->R at 80: in allele A*0107</li><li>M->V at 91: in allele A*0107</li><li>A->E at 100: in allele A*0107</li><li>D->A at 114: in allele A*0107</li><li>I->M at 121: in allele A*0103</li><li>R->L at 180: in allele A*0106</li><li>V->A at 182: in allele A*0106</li>										2
P30447			<li>Y->C at 31: in allele A*2305</li><li>K->N at 151: in allele A*2303</li><li>L->W at 180: in allele A*2302</li><li>DG->EW at 190-191: in allele A*2304</li>										2
P30450	100133382		<li>F->L at 60: in allele A*2615</li><li>RN->GE at 86-87: in allele A*2607</li><li>R->G at 89: in dbSNP:rs1059459</li><li>N->K at 90: in allele A*2607</li><li>H->Q at 94: in dbSNP:rs1059463</li><li>DRAN->HRVD at 98-101: in allele A*2603</li><li>A->E at 100: in allele A*2605</li><li>N->D at 101: in dbSNP:rs1136688</li><li>P->S at 129: in dbSNP:rs1136700</li><li>G->W at 131: in dbSNP:rs1136702</li><li>F->L at 133: in dbSNP:rs1059488</li><li>D->N at 140: in allele A*2602</li><li>N->K at 151: in dbSNP:rs1059509</li><li>I->T at 166: in dbSNP:rs1059516</li><li>R->H at 169: in dbSNP:rs1059520</li><li>E->V at 176: in allele A*2612</li><li>W->Q at 180: in allele A*2608; requires 2 nucleotide substitutions</li><li>W->R at 180: in dbSNP:rs9260155</li><li>E->D at 185: in dbSNP:rs1059542</li><li>R->L at 187: in allele A*2604</li><li>I->V at 306: in dbSNP:rs1136949</li>									<li>rs1136949</li><li>rs1059542</li><li>rs1059520</li><li>rs1059509</li><li>rs1059463</li><li>rs9260155</li><li>rs1059488</li><li>rs1136700</li><li>rs1059516</li><li>rs1136688</li><li>rs1059459</li><li>rs1136702</li>	2
P30453			<li>I->V at 3: in allele A*3402</li><li>K->N at 90: in allele A*3402</li><li>R->I at 121: in allele A*3402</li><li>P->S at 129: in allele A*3402</li><li>Q->R at 138: in allele A*3402</li><li>W->L at 180: in allele A*3402</li><li>L->I at 312: in allele A*3402</li>										2
P30455			<li>V->A at 182: in allele A*3602</li><li>E->D at 185: in allele A*3602</li>										2
P30457			<li>S->W at 28: in allele A*6602</li><li>D->A at 114: in allele A*6602</li><li>R->E at 187: in allele A*6602; requires 2 nucleotide substitutions</li>										2
P30459			<li>R->W at 23: in allele A*7402</li><li>Q->G at 86: in allele A*7404; requires 2 nucleotide substitutions</li><li>N->K at 90: in allele A*7404</li><li>T->A at 97: in allele A*7405</li><li>G->A at 103: in allele A*7403</li>										2
P30460			<li>N->D at 87: in allele B*0810</li><li>F->S at 91: in allele B*0804</li><li>S->N at 101: in allele B*0806</li><li>L->W at 119: in allele B*0809</li><li>S->R at 121: in allele B*0812</li><li>S->T at 121: in allele B*0809</li><li>HN->YH at 137-138: in allele B*0814</li><li>N->D at 138: in allele B*0807</li><li>Y->D at 140: in allele B*0814</li><li>V->E at 176: in allele B*0806</li><li>D->L at 180: in allele B*0813; requires 2 nucleotide substitutions</li><li>D->R at 180: in allele B*0806; requires 2 nucleotide substitutions</li>										2
P30461			<li>TW->II at 118-119: in allele B*1301</li><li>T->R at 121: in allele B*1301</li><li>N->D at 138: in allele B*1304</li><li>L->S at 140: in allele B*1304</li><li>L->R at 169: in allele B*1303 and allele B*1304; requires 2 nucleotide substitutions</li><li>Y->C at 183: in allele B*1308</li><li>E->L at 187: in allele B*1303 and allele B*1304</li>										2
P30462			<li>S->A at 35: in allele B*1402 and allele B*1403</li><li>L->R at 180: in allele B*1403</li>										2
P30464			<li>A->S at 48: in allele B*1503</li><li>MA->EE at 69-70: in allele B*1503</li><li>E->N at 87: in allele B*1502 and allele B*1511; requires 2 nucleotide substitutions</li><li>S->C at 91: in allele B*1566</li><li>S->Y at 91: in allele B*1511</li><li>TL->II at 118-119: in allele B*1502</li><li>L->W at 119: in allele B*1504</li><li>R->T at 121: in allele B*1504</li><li>H->Y at 137: in allele B*1502</li><li>W->L at 180: in allele B*1502 and allele B*1503</li><li>EW->DG at 190-191: in allele B*1519</li><li>P->L at 274: in allele B*1519</li>										2
P30466			<li>N->E at 87: in allele B*1812; requires 2 nucleotide substitutions</li><li>S->F at 91: in allele B*1807</li><li>Y->D at 98: in allele B*1803</li><li>R->N at 121: in allele B*1802; requires 2 nucleotide substitutions</li><li>L->R at 180: in allele B*1813</li><li>T->E at 187: in allele B*1810; requires 2 nucleotide substitutions</li><li>H->Y at 195: in allele B*1810 and allele B*1811</li>										2
P30475			<li>Y->D at 33: in allele B*3912</li><li>S->A at 35: in allele B*3904 and allele B*3912</li><li>V->M at 36: in allele B*3904</li><li>N->E at 87: in allele B*3902, allele B*3908 and allele B*3923; requires 2 nucleotide substitutions</li><li>C->S at 91: in allele B*3902, allele B*3908 and allele B*3923</li><li>C->Y at 91: in allele B*3910</li><li>D->Y at 98: in allele B*3905, allele B*3907 and allele B*3908</li><li>L->W at 119: in allele B*3906</li><li>R->S at 121: in allele B*3903 and allele B*3924</li><li>R->T at 121: in allele B*3906</li><li>M->T at 122: in allele B*3924</li><li>Y->S at 123: in allele B*3909</li><li>N->D at 138: in allele B*3907</li><li>F->S at 140: in allele B*3907</li><li>Q->R at 168: in allele B*3923</li><li>L->R at 180: in allele B*3908</li>										2
P30479			<li>N->K at 104: in allele B*4105</li><li>W->L at 119: in allele B*4102, allele B*4103 and allele B*4104</li><li>R->S at 121: in allele B*4102 and allele B*4104</li><li>V->L at 127: in allele B*4104</li><li>N->D at 138: in allele B*4104</li>										2
P30480			<li>Y->H at 33: in allele B*4202</li>										2
P30481			<li>T->A at 65: in allele B*4407 and allele B*4408</li><li>KE->MA at 69-70: in allele B*4408</li><li>D->E at 85: in allele B*4413</li><li>E->N at 87: in allele B*4412; requires 2 nucleotide substitutions</li><li>N->S at 101: in allele B*4409</li><li>TALR->NLRG at 104-107: in allele B*4409</li><li>D->Y at 140: in allele B*4405</li><li>D->L at 180: in allele B*4403, allele B*4407 and allele B*4413; requires 2 nucleotide substitutions</li><li>D->R at 180: in allele B*4404; requires 2 nucleotide substitutions</li><li>L->T at 187: in allele B*4404; requires 2 nucleotide substitutions</li>										2
P30483			<li>Q->R at 139: in allele B*4503</li><li>S->W at 191: in allele B*4504</li>										2
P30484			<li>D->G at 98: in allele B*4602</li>										2
P30485			<li>D->S at 101: in allele B*4702 and allele B*4703; requires 2 nucleotide substitutions</li><li>T->N at 104: in allele B*4702 and allele B*4703</li><li>LR->RG at 106-107: in allele B*4702</li>										2
P30486			<li>S->R at 121: in allele B*4803</li>										2
P30487			<li>T->A at 48: in allele B*04903</li><li>L->Q at 56: in allele B*04903</li><li>T->A at 65: in allele B*04903</li><li>K->T at 69: in allele B*04903</li><li>I->T at 104: in allele B*04902</li>										2
P30488			<li>L->V at 127: in allele B*5004</li><li>W->S at 191: in allele B*5002</li>										2
P30490			<li>TE->MA at 69-70: in allele B*5202</li><li>E->V at 176: in allele B*5203</li><li>H->Y at 195: in allele B*5203</li>										2
P30491			<li>N->D at 101: in allele B*5303</li><li>N->S at 101: in allele B*5305</li><li>IA->TL at 104-105: in allele B*5303</li><li>I->T at 118: in allele B*5307</li><li>Y->S at 123: in allele B*5307</li><li>L->V at 127: in allele B*5307</li><li>HD->YN at 137-138: in allele B*5307</li><li>S->F at 140: in allele B*5304 and allele B*5307</li><li>V->E at 176: in allele B*5306</li><li>Y->H at 195: in allele B*5302 and allele B*5306</li>										2
P30492			<li>Y->H at 33: in allele B*5402</li><li>AM->SV at 35-36: in allele B*5402</li>										2
P30493			<li>E->A at 82: in allele B*5505</li><li>S->N at 101: in allele B*5512</li><li>W->L at 119: in allele B*5504 and allele B*5508; requires 2 nucleotide substitutions</li><li>T->R at 121: in allele B*5508</li><li>T->S at 121: in allele B*5504</li><li>L->V at 127: in allele B*5504 and allele B*5508</li><li>L->Y at 140: in allele B*5504 and allele B*5508</li><li>S->R at 155: in allele B*5504 and allele B*5508</li><li>E->V at 176: in allele B*5502, allele B*5504, allele B*5508 and allele B*5512</li><li>L->R at 180: in allele B*5509</li><li>T->E at 187: in allele B*5509; requires 2 nucleotide substitutions</li><li>T->L at 187: in allele B*5508; requires 2 nucleotide substitutions</li>										2
P30495			<li>E->T at 69: in allele B*5606; requires 2 nucleotide substitutions</li><li>S->N at 101: in allele B*5607</li><li>NLRG->TALR at 104-107: in allele B*5607</li><li>W->L at 119: in allele B*5602, allele B*5603 and allele B*5604</li><li>T->R at 121: in allele B*5602, allele B*5603 and allele B*5604</li><li>L->V at 127: in allele B*5603, allele B*5604, allele B*5605 and allele B*5606</li><li>N->D at 138: in allele B*5603</li><li>L->S at 140: in allele B*5603</li><li>L->Y at 140: in allele B*5605 and allele B*5606; requires 2 nucleotide substitutions</li><li>V->E at 176: in allele B*5603, allele B*5605 and allele B*5606</li><li>L->W at 180: in allele B*5603</li><li>Y->H at 195: in allele B*5605 and allele B*5606</li>										2
P30498			<li>F->C at 91: in allele B*7803</li><li>D->Y at 98: in allele B*7802</li>										2
P30499			<li>E->A at 5: in allele Cw*0102, allele CW*0103 and allele CW*0104</li><li>N->K at 92: in allele Cw*0102, allele CW*0103 and allele CW*0104</li><li>D->N at 138: in allele CW*0103</li><li>Y->F at 140: in allele CW*0103</li><li>Y->S at 140: in allele CW*0104</li><li>E->Q at 179: in allele Cw*0102, allele Cw*0103 and allele CW*0104</li><li>R->W at 180: in allele Cw*0104</li><li>S->T at 202: in allele Cw*0102, allele CW*0103 and allele CW*0104</li><li>W->R at 243: in allele CW*0104</li><li>M->V at 272: in allele CW*0104</li><li>V->M at 328: in allele CW*0104</li><li>S->C at 364: in allele Cw*0102, allele CW*0103 and allele CW*0104</li>										2
P30501			<li>E->A at 5: in allele Cw*0202</li><li>I->L at 10: in allele Cw*0202</li><li>GR->AP at 73-74: in allele Cw*0202</li><li>N->K at 92: in allele Cw*0202</li><li>E->Q at 179: in allele Cw*0202</li><li>K->T at 202: in allele Cw*0202</li><li>S->C at 364: in allele Cw*0202</li>										2
P30504			<li>S->Y at 33: in allele Cw*0403 and allele Cw*0406</li><li>S->A at 35: in allele Cw*0403 and allele Cw*0406</li><li>W->R at 38: in allele Cw*0403 and allele Cw*0406</li><li>G->S at 40: in allele Cw*0403 and allele Cw*0406</li><li>R->H at 45: in allele Cw*0403 and allele Cw*0406</li><li>V->L at 52: in allele Cw*0405</li><li>E->A at 73: in allele Cw*0403 and allele Cw*0406</li><li>R->L at 180: in allele Cw*0404 and allele Cw*0406</li><li>M->V at 327: in allele Cw*0403 and allele Cw*0406</li>										2
P30505			<li>T->K at 162: in allele Cw*0802</li><li>T->E at 176: in allele Cw*0802; requires 2 nucleotide substitutions</li><li>L->R at 180: in allele Cw*0802</li><li>G->R at 199: in allele CW*0803</li>										2
P30508			<li>K->N at 90: in allele Cw*1208</li><li>A->T at 97: in allele Cw*1205 and allele Cw*1209</li><li>S->G at 101: in allele Cw*1207</li><li>S->N at 101: in allele Cw*1204, allele Cw*1205 and allele Cw*1209</li><li>N->K at 104: in allele Cw*1204, allele Cw*1205 and allele Cw*1209</li><li>R->W at 121: in allele Cw*1203, allele Cw*1204, allele Cw*1205, allele Cw*1206, allele Cw*1207 and allele Cw*1209</li><li>G->V at 144: in allele Cw*1206</li><li>W->R at 180: in allele Cw*1209</li><li>H->P at 208</li><li>A->T at 363</li>										2
P30510			<li>R->H at 45: in allele Cw*1403</li><li>T->A at 97: in allele Cw*1404</li><li>S->N at 101: in allele Cw*1403</li>										2
P30511	3134		<li>S->P at 272: in dbSNP:rs1736924</li>									rs1736924	2
P30512	649853		<li>N->H at 90: in allele A*2904</li><li>H->D at 126: in allele A*2902, allele A*2903 and allele A*2904</li><li>EW->DG at 190-191: in allele A*2903</li>										2
P30519	3163		<li>R->Q at 137: in dbSNP:rs17884623</li><li>P->L at 146: in dbSNP:rs17880805</li>									<li>rs17884623</li><li>rs17880805</li>	2
P30520	159		<li>L->F at 179: in dbSNP:rs12134870</li>									rs12134870	2
P30532	1138		<li>V->I at 134: in dbSNP:rs2229961</li><li>D->N at 398: associated with susceptibility to lung cancer; dbSNP:rs16969968</li>									<li>rs16969968</li><li>rs2229961</li>	2
P30536	706		<li>A->T at 147: in dbSNP:rs6971</li><li>H->R at 162: in dbSNP:rs6972</li><li>E->Q at 169: in dbSNP:rs9333342</li>									<li>rs9333342</li><li>rs6971</li><li>rs6972</li>	2
P30542	134		<li>A->S at 43: in dbSNP:rs11547175</li><li>S->P at 50: in dbSNP:rs11547174</li><li>R->H at 105: in dbSNP:rs11547176</li><li>E->K at 170: in a colorectal cancer sample; somatic mutation</li><li>P->Q at 261: in dbSNP:rs17852405</li>									<li>rs17852405</li><li>rs11547176</li><li>rs11547175</li><li>rs11547174</li>	2
P30556	185		<li>L->V at 48: in dbSNP:rs2011425</li><li>A->T at 163: in dbSNP:rs12721226</li><li>A->S at 244: in dbSNP:rs12721225</li><li>T->M at 282: in RTD, MIM: 267430</li><li>C->W at 289: in dbSNP:rs1064533, MIM: 267430</li><li>T->P at 336: in dbSNP:rs1801021, MIM: 267430</li>								Renal tubular dysgenesis (RTD) [MIM:267430]	<li>rs2011425</li><li>rs1064533</li><li>rs1801021</li><li>rs12721226</li><li>rs12721225</li>	2
P30559	5021		<li>A->S at 16: in dbSNP:rs237906</li><li>A->T at 218: in dbSNP:rs4686302</li>									<li>rs4686302</li><li>rs237906</li>	2
P30566	158		<li>A->V at 2: in ADSL deficiency; severe, MIM: 103050</li><li>A->V at 3: in ADSL deficiency; severe, MIM: 103050</li><li>M->L at 26: in ADSL deficiency; severe, MIM: 103050</li><li>S->N at 31: in dbSNP:rs5757921, MIM: 103050</li><li>I->V at 72: in ADSL deficiency; severe, MIM: 103050</li><li>P->A at 100: in ADSL deficiency; moderate, MIM: 103050</li><li>Y->H at 114: in ADSL deficiency; severe. Total loss of activity, MIM: 103050</li><li>R->W at 141: in ADSL deficiency; severe, MIM: 103050</li><li>K->M at 147: in dbSNP:rs11089991, MIM: 103050</li><li>R->Q at 190: in ADSL deficiency; moderate: in dbSNP rsrs28941471, MIM: 103050</li><li>R->C at 194: in ADSL deficiency; severe, MIM: 103050</li><li>K->E at 246: in ADSL deficiency; moderate, MIM: 103050</li><li>D->N at 268: in ADSL deficiency; severe. Total loss of activity, MIM: 103050</li><li>R->C at 303: in ADSL deficiency; mild, MIM: 103050</li><li>L->V at 311: in ADSL deficiency; severe, MIM: 103050</li><li>P->L at 318: in ADSL deficiency; severe, MIM: 103050</li><li>V->M at 364: in ADSL deficiency; severe, MIM: 103050</li><li>R->W at 374: in ADSL deficiency; severe, MIM: 103050</li><li>S->R at 395: in ADSL deficiency; severe, MIM: 103050</li><li>R->C at 396: in ADSL deficiency; severe, MIM: 103050</li><li>R->H at 396: in ADSL deficiency; severe, MIM: 103050</li><li>D->Y at 422: in ADSL deficiency; moderate, MIM: 103050</li><li>L->V at 423: in ADSL deficiency; moderate, MIM: 103050</li><li>R->H at 426: in ADSL deficiency; severe. Most frequent mutation, MIM: 103050</li><li>D->N at 430: in ADSL deficiency; mild, MIM: 103050</li><li>S->P at 438: in ADSL deficiency; severe, MIM: 103050</li><li>S->P at 447: in ADSL deficiency; severe, MIM: 103050</li><li>T->S at 450: in ADSL deficiency; moderate, MIM: 103050</li><li>R->P at 452: in ADSL deficiency; severe, MIM: 103050</li>							<li>P21265</li><li>Q8HXY5</li><li>P30566</li>	Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	<li>rs28941471</li><li>rs11089991</li><li>rs5757921</li>	2
P30613	5313		<li>G->E at 37: in pyruvate kinase hyperactivity, MIM: 102900</li><li>S->P at 80: in CNSHA, MIM: 266200</li><li>R->P at 86: in CNSHA, MIM: 266200</li><li>I->N at 90: in CNSHA, MIM: 266200</li><li>G->R at 95: in CNSHA, MIM: 266200</li><li>M->T at 107: in CNSHA, MIM: 266200</li><li>G->R at 111: in CNSHA, MIM: 266200</li><li>A->P at 115: in CNSHA; Val de Marne, MIM: 266200</li><li>S->F at 120: in CNSHA; Beaujon, MIM: 266200</li><li>S->Y at 130: in CNSHA; Conakry, MIM: 266200</li><li>Missing  at 131: in CNSHA, MIM: 266200</li><li>V->D at 134: in CNSHA, MIM: 266200</li><li>I->T at 153: in CNSHA, MIM: 266200</li><li>L->P at 155: in CNSHA, MIM: 266200</li><li>G->V at 159: in CNSHA, MIM: 266200</li><li>R->C at 163: in CNSHA; Linz, MIM: 266200</li><li>E->Q at 172: in CNSHA; Sassari, MIM: 266200</li><li>I->T at 219: in CNSHA, MIM: 266200</li><li>D->DD at 221: in CNSHA, MIM: 266200</li><li>G->A at 222: in CNSHA; Katsushika, MIM: 266200</li><li>G->R at 263: in CNSHA, MIM: 266200</li><li>G->W at 263: in CNSHA, MIM: 266200</li><li>G->R at 275: in CNSHA, MIM: 266200</li><li>D->N at 281: in CNSHA, MIM: 266200</li><li>F->V at 287: in CNSHA, MIM: 266200</li><li>V->L at 288: in CNSHA; Moriguchi, MIM: 266200</li><li>D->N at 293: in CNSHA, MIM: 266200</li><li>A->V at 295: in CNSHA, MIM: 266200</li><li>I->N at 310: in CNSHA; Dordrecht, MIM: 266200</li><li>I->T at 314: in CNSHA; Hong Kong, MIM: 266200</li><li>E->K at 315: in CNSHA, MIM: 266200</li><li>D->E at 331: in CNSHA; Parma, MIM: 266200</li><li>D->N at 331: in CNSHA, MIM: 266200</li><li>G->S at 332: in CNSHA, MIM: 266200</li><li>V->M at 335: in CNSHA, MIM: 266200</li><li>A->S at 336: in CNSHA, MIM: 266200</li><li>R->P at 337: in CNSHA, MIM: 266200</li><li>R->Q at 337: in CNSHA, MIM: 266200</li><li>D->H at 339: in CNSHA, MIM: 266200</li><li>G->A at 341: in CNSHA, MIM: 266200</li><li>G->D at 341: in CNSHA, MIM: 266200</li><li>I->F at 342: in CNSHA, MIM: 266200</li><li>K->N at 348: in CNSHA; Kamata, MIM: 266200</li><li>Missing  at 348: in CNSHA; Brescia, MIM: 266200</li><li>A->D at 352: in CNSHA, MIM: 266200</li><li>Missing  at 354: in CNSHA, MIM: 266200</li><li>I->T at 357: in CNSHA, MIM: 266200</li><li>R->C at 359: in CNSHA; Aomori, MIM: 266200</li><li>R->H at 359: in CNSHA, MIM: 266200</li><li>N->D at 361: in CNSHA, MIM: 266200</li><li>G->D at 364: in CNSHA; Tjaereborg, MIM: 266200</li><li>V->F at 368: in CNSHA; Osaka, MIM: 266200</li><li>S->I at 376: in CNSHA, MIM: 266200</li><li>T->M at 384: in CNSHA; Tokyo/Beirut; most common mutation in Japanese population, MIM: 266200</li><li>R->W at 385: in CNSHA, MIM: 266200</li><li>E->G at 387: in CNSHA, MIM: 266200</li><li>D->N at 390: in CNSHA; Mantova, MIM: 266200</li><li>A->T at 392: in CNSHA, MIM: 266200</li><li>N->K at 393: in CNSHA, MIM: 266200</li><li>N->S at 393: in CNSHA; Paris, MIM: 266200</li><li>A->D at 394: in CNSHA, MIM: 266200</li><li>A->V at 394: in CNSHA, MIM: 266200</li><li>C->CS at 401: in CNSHA, MIM: 266200</li><li>T->A at 408: in CNSHA; Hirosaki, MIM: 266200</li><li>T->I at 408: in CNSHA, MIM: 266200</li><li>Q->K at 421: in CNSHA; Fukushima/Maebashi/Sendai, MIM: 266200</li><li>R->Q at 426: in CNSHA; Sapporo, MIM: 266200</li><li>R->W at 426: in CNSHA; Naniwa, MIM: 266200</li><li>E->A at 427: in CNSHA, MIM: 266200</li><li>E->D at 427: in CNSHA, MIM: 266200</li><li>A->T at 431: in CNSHA, MIM: 266200</li><li>G->D at 458: in CNSHA, MIM: 266200</li><li>A->V at 459: in CNSHA, MIM: 266200</li><li>V->M at 460: in CNSHA, MIM: 266200</li><li>A->G at 468: in CNSHA, MIM: 266200</li><li>A->V at 468: in CNSHA; Hadano, MIM: 266200</li><li>T->A at 477: in CNSHA, MIM: 266200</li><li>R->H at 479: in CNSHA; Amish, MIM: 266200</li><li>S->F at 485: in CNSHA, MIM: 266200</li><li>R->W at 486: in CNSHA; frequent mutation, MIM: 266200</li><li>R->Q at 488: in CNSHA, MIM: 266200</li><li>R->W at 490: in CNSHA, MIM: 266200</li><li>A->T at 495: in CNSHA, MIM: 266200</li><li>A->V at 495: in CNSHA, MIM: 266200</li><li>R->C at 498: in CNSHA, MIM: 266200</li><li>R->H at 498: in CNSHA, MIM: 266200</li><li>R->L at 504: in CNSHA, MIM: 266200</li><li>V->I at 506: in dbSNP:rs8177988, MIM: 266200</li><li>R->Q at 510: in CNSHA; the most common mutation in European population, MIM: 266200</li><li>G->R at 511: in CNSHA, MIM: 266200</li><li>R->C at 531: in CNSHA, MIM: 266200</li><li>R->Q at 532: in CNSHA, MIM: 266200</li><li>R->W at 532: in CNSHA, MIM: 266200</li><li>V->M at 552: in CNSHA, MIM: 266200</li><li>G->A at 557: in CNSHA, MIM: 266200</li><li>R->G at 559: in CNSHA, MIM: 266200</li><li>N->K at 566: in CNSHA, MIM: 266200</li><li>R->Q at 569: in CNSHA, MIM: 266200</li>							<li>P94939</li><li>P30614</li><li>P78031</li><li>P46614</li><li>Q02499</li><li>O06134</li><li>P43924</li><li>Q12669</li><li>Q875M9</li><li>O62619</li><li>Q8K9M3</li><li>Q27686</li><li>Q9Z984</li><li>Q7RVA8</li><li>P94685</li><li>Q04668</li><li>Q6BS75</li><li>O94122</li><li>Q89AI8</li><li>Q07637</li><li>P34038</li><li>Q875S4</li><li>Q10208</li><li>P70789</li><li>P47458</li><li>P51182</li><li>P51181</li><li>P80885</li><li>O08309</li><li>Q46078</li><li>Q44473</li><li>Q759A9</li><li>P32044</li><li>O51323</li><li>Q46289</li><li>O05118</li><li>Q9PK61</li><li>P81344</li><li>Q27788</li><li>Q875Z9</li><li>P31865</li><li>O44006</li><li>Q57572</li><li>P22360</li><li>Q56301</li><li>P19680</li><li>P57404</li><li>Q8FP04</li>	<li>Chronic nonspherocytic hemolytic anemia (CNSHA) [MIM:266200]</li><li>Pyruvate kinase hyperactivity [MIM:102900]</li>	rs8177988	2
P30622	6249		<li>R->W at 769: in dbSNP:rs3741447</li><li>S->P at 930: in dbSNP:rs17883517</li><li>D->E at 1069: in dbSNP:rs1129167</li><li>M->I at 1202: in a breast cancer sample; somatic mutation</li><li>A->S at 1213: in dbSNP:rs17881033</li>									<li>rs1129167</li><li>rs3741447</li><li>rs17883517</li><li>rs17881033</li>	2
P30679	2769		<li>C->Y at 147: in dbSNP:rs310680</li>									rs310680	2
P30685			<li>G->V at 40: in allele B*3507</li><li>A->S at 48: in allele B*3525</li><li>T->E at 69: in allele B*3525; requires 2 nucleotide substitutions</li><li>N->E at 87: in allele B*3528; requires 2 nucleotide substitutions</li><li>F->S at 91: in allele B*3528</li><li>Y->D at 98: in allele B*3529</li><li>G->D at 107: in allele B*3536</li><li>II->TL at 118-119: in allele B*3505 and allele B*3532</li><li>R->S at 121: in allele B*3505 and allele B*3530</li><li>L->V at 127: in allele B*3532</li><li>L->F at 133: in allele B*3502</li><li>D->N at 138: in allele B*3502, allele B*3504 and allele B*3506</li><li>S->F at 140: in allele B*3506 and allele B*3536</li><li>S->Y at 140: in allele B*3502, allele B*3503 and allele B*3504</li><li>L->R at 180: in allele B*3508</li>										2
P30711	2952		<li>A->T at 21: in dbSNP:rs2266635</li><li>D->N at 141: in dbSNP:rs2266633</li><li>V->I at 169: in dbSNP:rs2266637</li><li>E->K at 173: in dbSNP:rs2234953</li>									<li>rs2266637</li><li>rs2234953</li><li>rs2266633</li><li>rs2266635</li>	2
P30712	2953		<li>E->K at 129: in dbSNP:rs140195</li><li>M->I at 139: in dbSNP:rs1622002</li>									<li>rs140195</li><li>rs1622002</li>	2
P30740	1992		<li>A->V at 82: in dbSNP:rs34825616</li>									rs34825616	2
P30793	2643		<li>G->D at 15: in HGCH-3</li><li>P->L at 23: in DYT5: in dbSNP rsrs41298432, MIM: 128230</li><li>L->Q at 71: in DYT5, MIM: 128230</li><li>A->V at 74: in DYT5, MIM: 128230</li><li>L->P at 79: in DYT5, MIM: 128230</li><li>G->A at 83: in DYT5, MIM: 128230</li><li>Missing  at 88-89: in DYT5, MIM: 128230</li><li>R->P at 88: in DYT5, MIM: 128230</li><li>R->W at 88: in DYT5, MIM: 128230</li><li>G->V at 90: in DYT5, MIM: 128230</li><li>M->K at 102: in DYT5, MIM: 128230</li><li>M->R at 102: in DYT5, MIM: 128230</li><li>T->I at 106: in DYT5, MIM: 128230</li><li>G->D at 108: in GCH1D; phenotype presenting with dystonia and motor delay, MIM: 128230</li><li>D->N at 115: in DYT5, MIM: 128230</li><li>D->V at 134: in DYT5, MIM: 128230</li><li>I->K at 135: in DYT5, MIM: 128230</li><li>C->R at 141: in DYT5, MIM: 128230</li><li>C->W at 141: in DYT5, MIM: 128230</li><li>H->P at 144: in DYT5, MIM: 128230</li><li>H->P at 153: in DYT5, MIM: 128230</li><li>L->R at 163: in DYT5, MIM: 128230</li><li>S->T at 176: in DYT5, MIM: 128230</li><li>R->S at 178: in DYT5, MIM: 128230</li><li>Q->R at 180: in DYT5, MIM: 128230</li><li>R->H at 184: in GCH1D; severe hyperphenylalaninemia, MIM: 233910</li><li>T->K at 186: in DYT5, MIM: 128230</li><li>V->I at 191: in DYT5, MIM: 128230</li><li>P->L at 199: in DYT5, MIM: 128230</li><li>G->E at 201: in DYT5, MIM: 128230</li><li>G->R at 203: in DYT5, MIM: 128230</li><li>M->I at 211: in GCH1D; severe hyperphenylalaninemia, MIM: 233910</li><li>M->V at 211: in DYT5, MIM: 128230</li><li>M->V at 213: in DYT5, MIM: 128230</li><li>M->T at 221: in GCH1D; a patient presenting with dystonia and motor delay; compound heterozygote for an additional deletion, MIM: 128230</li><li>K->R at 224: in GCH1D and DYT5; phenotype presenting with dystonia and myoclonus: in dbSNP rsrs41298442, MIM: 128230</li><li>F->S at 234: in DYT5, MIM: 128230</li><li>R->W at 241: in DYT5, MIM: 128230</li><li>R->S at 249: in DYT5, MIM: 128230</li>							P30793	<li>Autosomal dominant dopa-responsive dystonia (DRD) [MIM:128230]</li><li>Atypical severe phenylketonuria (PKU) [MIM:233910]</li>	<li>rs41298442</li><li>rs41298432</li>	2
P30837	219		<li>A->V at 86: in allele ALDHA1B1*2; dbSNP:rs2228093</li><li>L->R at 107: in allele ALDHA1B1*3; dbSNP:rs2073478</li><li>T->I at 202: in dbSNP:rs4646773</li><li>M->V at 253: in dbSNP:rs4878199</li>									<li>rs2228093</li><li>rs4878199</li><li>rs2073478</li><li>rs4646773</li>	2
P30838	218		<li>A->S at 134: in dbSNP:rs887241</li><li>G->E at 309: in dbSNP:rs3744692</li><li>P->A at 329: in allele ALDH3A1*2; dbSNP:rs2228100</li>							<li>P30838</li><li>P30907</li>		<li>rs3744692</li><li>rs2228100</li><li>rs887241</li>	2
P30926	1143		<li>T->I at 91: in dbSNP:rs12914008</li><li>R->W at 136</li><li>S->G at 140: in dbSNP rsrs56218866</li><li>M->V at 467</li>									<li>rs56218866</li><li>rs12914008</li>	2
P30953	8387		<li>P->L at 129: in dbSNP:rs1735011</li><li>A->T at 143: in dbSNP rsrs150989</li><li>S->P at 262: in dbSNP:rs379856</li>									<li>rs150989</li><li>rs379856</li><li>rs1735011</li>	2
P30954	26476		<li>I->M at 62: in dbSNP:rs10908722</li><li>M->I at 103: in dbSNP:rs12048482</li><li>M->I at 112: in dbSNP:rs12118628</li>									<li>rs12118628</li><li>rs10908722</li><li>rs12048482</li>	2
P30968	2798		<li>N->K at 10: in IHH; is able to bind GnRH but with a reduced affinity in vitro, MIM: 146110</li><li>E->K at 90: in IHH; virtual abolition of GnRH agonist binding and agonist-stimulated phosphoinositide turnover; impairs GnRHR-effector coupling, MIM: 146110</li><li>Q->R at 106: in IHH and fertile eunuch syndrome; decreases but does not eliminate GnRH binding, MIM: 146110</li><li>A->D at 129: in IHH; complete loss of function, MIM: 146110</li><li>R->H at 139: in IHH; completely eliminates detectable GnRH-binding activity and prevents GnRH-induced stimulation of inositol phosphate accumulation in vitro, MIM: 146110</li><li>S->R at 168: in IHH; complete loss of the receptor-mediated signaling response, MIM: 146110</li><li>A->T at 171: in IHH; complete loss of ligand binding and receptor activation; specific receptor binding of radioisotope-labeled GnRH ligand is undetectable in transfected cells, MIM: 146110</li><li>S->R at 217: in IHH; altered hormone binding, MIM: 146110</li><li>R->Q at 262: in IHH; minimal effects upon receptor affinity but expression decreased; altered activation of phospholipase C, MIM: 146110</li><li>Y->C at 284: in IHH; minimal effects upon receptor affinity but receptor expression decreased: in dbSNP rsrs28933074, MIM: 146110</li>			<li>binding</li><li>hormone binding</li><li>receptor binding</li>	<li>GO:0005488</li><li>GO:0042562</li><li>GO:0005102</li>			<li>Q98938</li><li>Q01776</li><li>P79871</li><li>Q14623</li><li>Q8CH60</li><li>P79852</li><li>Q19PY9</li><li>O13243</li><li>P97812</li><li>P32237</li><li>P32236</li><li>Q91612</li><li>P79693</li><li>P79860</li><li>P49922</li><li>P30969</li><li>P30968</li><li>P79866</li><li>Q8SPZ1</li><li>O13220</li><li>O13240</li><li>Q9MZI6</li><li>P79719</li><li>O13215</li><li>P27429</li><li>Q9TTI8</li><li>P79711</li><li>O18821</li>	<li>Fertile eunuch syndrome [MIM:228300]</li><li>Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]</li>	rs28933074	2
P30988	799		<li>P->L at 463: in dbSNP:rs1801197</li>									rs1801197	2
P30989	4923		<li>Q->H at 275: in dbSNP:rs35373650</li><li>V->I at 304: in dbSNP:rs2273075</li>									<li>rs2273075</li><li>rs35373650</li>	2
P31040	6389		<li>F->V at 33: in dbSNP:rs1061518</li><li>D->V at 38: in dbSNP:rs34635677</li><li>E->Q at 240: in dbSNP:rs1041946</li><li>A->V at 524: in LS, MIM: 256000</li><li>R->W at 554: in LS, MIM: 256000</li><li>G->E at 555: in complex II deficiency and LS, MIM: 256000</li><li>V->I at 657: in dbSNP:rs6962, MIM: 256000</li>								Leigh syndrome (LS) [MIM:256000]	<li>rs1061518</li><li>rs6962</li><li>rs34635677</li><li>rs1041946</li>	2
P31146	11151		<li>R->K at 415: in dbSNP:rs1804109</li><li>T->P at 443: in dbSNP:rs1053574</li>									<li>rs1804109</li><li>rs1053574</li>	2
P31150	2664		<li>L->P at 92: in MRX41; causes reduced binding and recycling of RAB3A, MIM: 300104</li><li>R->P at 423: in MRX48, MIM: 300104</li>			binding	GO:0005488			<li>P20336</li><li>Q4R4R9</li><li>P11023</li>	<li>Mental retardation X-linked type 48 (MRX48) [MIM:300104]</li><li>Mental retardation X-linked type 41 (MRX41) [MIM:300104]</li>		2
P31151	6278		<li>E->D at 28: in dbSNP:rs3014837</li>									rs3014837	2
P31152	5596		<li>V->M at 38: in dbSNP:rs3752087</li><li>R->P at 371: in dbSNP rsrs3752089</li>									<li>rs3752089</li><li>rs3752087</li>	2
P31213	6716		<li>A->T at 49</li><li>L->Q at 55: in PPSH, MIM: 264600</li><li>G->D at 85: in PPSH, MIM: 264600</li><li>V->L at 89: in dbSNP:rs523349, MIM: 264600</li><li>L->V at 113, MIM: 264600</li><li>G->D at 115: in PPSH, MIM: 264600</li><li>G->R at 123: in PPSH, MIM: 264600</li><li>Q->R at 126: in PPSH, MIM: 264600</li><li>R->W at 145: in PPSH, MIM: 264600</li><li>Missing  at 157: in PPSH, MIM: 264600</li><li>G->R at 158: in PPSH, MIM: 264600</li><li>P->L at 181: in PPSH, MIM: 264600</li><li>G->S at 183: in PPSH, MIM: 264600</li><li>G->S at 196: in PPSH, MIM: 264600</li><li>E->D at 197: in PPSH, MIM: 264600</li><li>E->K at 200: in PPSH, MIM: 264600</li><li>A->D at 207: in PPSH, MIM: 264600</li><li>P->R at 212: in PPSH, MIM: 264600</li><li>L->M at 224: in dbSNP:rs9332963, MIM: 264600</li><li>R->Q at 227: in micropenis, MIM: 264600</li><li>A->T at 228: in PPSH, MIM: 264600</li><li>H->R at 231: in PPSH, MIM: 264600</li><li>Y->F at 235: in PPSH, MIM: 264600</li><li>S->Y at 245: in PPSH, MIM: 264600</li><li>R->Q at 246: in PPSH, MIM: 264600</li><li>R->W at 246: in PPSH, MIM: 264600</li>								Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]	<li>rs9332963</li><li>rs523349</li>	2
P31249	3232		<li>S->C at 129: in dbSNP:rs1051932</li>									rs1051932	2
P31268	3204		<li>T->A at 18: in dbSNP:rs2301721</li>									rs2301721	2
P31271	3209		<li>A->AAAAAAA at 125: in HFGS</li><li>A->AAAAAAAAA at 129: in HFGS</li><li>Q->L at 371: in Guttmacher syndrome, MIM: 176305</li><li>N->H at 372: in HFGS; severe, MIM: 140000</li>								<li>Hand-foot-genital syndrome (HFGS) [MIM:140000]</li><li>Guttmacher syndrome [MIM:176305]</li>		2
P31274	3225		<li>G->S at 87: in a colorectal cancer sample; somatic mutation</li>										2
P31276	3229		<li>S->I at 50: in dbSNP:rs1867298</li>									rs1867298	2
P31277	3237		<li>G->D at 245</li>										2
P31323	5577		<li>E->D at 335: in dbSNP:rs3729881</li>									rs3729881	2
P31327	1373		<li>H->R at 337: in CPS1D; dbSNP:rs28940283, MIM: 237300</li><li>T->A at 344: in dbSNP:rs1047883, MIM: 237300</li><li>V->G at 457: in CPS1D, MIM: 237300</li><li>T->M at 544: in CPS1D, MIM: 237300</li><li>Q->R at 810: in CPS1D, MIM: 237300</li><li>L->S at 843: in CPS1D, MIM: 237300</li><li>R->H at 850: in CPS1D, MIM: 237300</li><li>K->E at 875: in CPS1D, MIM: 237300</li><li>S->P at 918: in CPS1D, MIM: 237300</li><li>F->S at 1266: in dbSNP:rs1047886, MIM: 237300</li><li>M->L at 1283: in dbSNP:rs1047887, MIM: 237300</li><li>G->S at 1376, MIM: 237300</li><li>T->N at 1406: 30-40% higher activity; risk factor for persistent pulmonary hypertension of the newborn; dbSNP:rs1047891, MIM: 237300</li>								Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	<li>rs1047887</li><li>rs1047883</li><li>rs1047886</li><li>rs28940283</li><li>rs1047891</li>	2
P31358	1043		<li>NI->SM at 40-41</li><li>N->S at 40: in dbSNP:rs1071849</li><li>I->M at 41: in dbSNP:rs17645</li>									<li>rs17645</li><li>rs1071849</li>	2
P31371	2254		<li>I->V at 94: in dbSNP:rs12427696</li>									rs12427696	2
P31391	6754		<li>N->T at 83: in dbSNP:rs1065191</li><li>G->D at 236: in dbSNP:rs35601930</li><li>F->V at 284: in dbSNP:rs3746726</li><li>F->S at 321: in dbSNP:rs2567608</li>									<li>rs35601930</li><li>rs2567608</li><li>rs1065191</li><li>rs3746726</li>	2
P31415	844		<li>Y->F at 134: in dbSNP:rs34489853</li>									rs34489853	2
P31431	6385		<li>F->L at 12: in dbSNP:rs4458268</li>									rs4458268	2
P31512	2329		<li>I->T at 37</li><li>T->S at 308: in dbSNP:rs3737925</li><li>V->A at 323: in dbSNP:rs1042767</li><li>E->Q at 339: in dbSNP rsrs61342270</li><li>G->S at 372: in dbSNP rsrs45599742</li><li>F->L at 536: in dbSNP rsrs45487792</li><li>L->R at 544: in dbSNP rsrs45528740</li>									<li>rs3737925</li><li>rs45487792</li><li>rs45528740</li><li>rs61342270</li><li>rs45599742</li><li>rs1042767</li>	2
P31513	2328		<li>E->D at 24: modest increase in catalytic efficiency toward trimethylamine, methimazole, ethylenethiourea and sulindac</li><li>E->K at 32: in TMAU, MIM: 602079</li><li>A->T at 52: in TMAU, MIM: 602079</li><li>N->K at 61: loss of activity, MIM: 602079</li><li>N->S at 61: in TMAU; more than 90% reduction in catalytic efficiency toward trimethylamine, benzydamine and methyl p-tolyl sulfide, MIM: 602079</li><li>M->I at 66: in TMAU; loss of activity; affects FAD binding, MIM: 602079</li><li>D->H at 132: in dbSNP:rs12072582, MIM: 602079</li><li>P->L at 153: in TMAU; 90% reduction in catalytic efficiency toward trimethylamine and benzydamine; 34% reduction in catalytic efficiency toward methyl p-tolyl sulfide; nearly no effect on affinity for these substrates, MIM: 602079</li><li>E->K at 158: 35%, 45% and 71% increase in catalytic efficiency toward trimethylamine, benzydamine and methyl p-tolyl sulfide, respectively; dbSNP:rs2266782, MIM: 602079</li><li>D->E at 198, MIM: 602079</li><li>R->C at 205: in dbSNP:rs28363549, MIM: 602079</li><li>V->M at 257: 65% increase in catalytic efficiency toward trimethylamine and 60% reduction toward benzydamine and methyl p-tolyl sulfide; dbSNP:rs1736557, MIM: 602079</li><li>V->A at 277: in dbSNP:rs2066530, MIM: 602079</li><li>E->G at 308: 16% reduction in catalytic efficiency toward trimethylamine and 40% increase toward benzydamine and methyl p-tolyl sulfide; dbSNP:rs2266780, MIM: 602079</li><li>L->P at 360: in dbSNP:rs28363581, MIM: 602079</li><li>E->Q at 362: in dbSNP:rs2066532, MIM: 602079</li><li>R->L at 387: in TMAU, MIM: 602079</li><li>K->N at 416: 2-fold decrease in affinity for trimethylamine; 3-fold decrease in catalytic efficiency toward methimazole; 3-fold increase in catalytic efficiency toward sulindac; 30% increase in catalytic efficiency toward ethylenethiourea, MIM: 602079</li><li>M->I at 434: in TMAU; profoundly alters enzyme function, MIM: 602079</li><li>R->W at 492: in TMAU; loss of activity; affects FAD binding, MIM: 602079</li><li>G->R at 503, MIM: 602079</li>			FAD binding	GO:0050660				Trimethylaminuria (TMAU) [MIM:602079]	<li>rs28363581</li><li>rs2266780</li><li>rs1736557</li><li>rs12072582</li><li>rs2266782</li><li>rs2066530</li><li>rs2066532</li><li>rs28363549</li>	2
P31629	3097		<li>R->Q at 46: in dbSNP:rs17072013</li><li>A->V at 1041: in dbSNP:rs34875559</li><li>L->I at 1293: in dbSNP:rs35675714</li><li>L->P at 1538: in dbSNP:rs109836</li>									<li>rs17072013</li><li>rs35675714</li><li>rs109836</li><li>rs34875559</li>	2
P31639	6524		<li>N->S at 654: in GLYS1, MIM: 233100</li>								Renal glucosuria (GLYS1) [MIM:233100]		2
P31641	6533		<li>I->M at 17: in dbSNP:rs1042350</li><li>L->V at 18: in dbSNP:rs1042351</li><li>W->C at 236: in dbSNP:rs1042352</li>									<li>rs1042351</li><li>rs1042350</li><li>rs1042352</li>	2
P31645	6532		<li>G->A at 56: in dbSNP:rs6355</li><li>K->N at 201: in dbSNP:rs2228673</li><li>I->L at 425: in dbSNP:rs28914832</li><li>I->V at 425: polymorphism linked with susceptibility to obsessive-compulsive disorder; increased serotonin transport capacity</li><li>F->L at 465: in dbSNP:rs28914833</li><li>L->V at 550: in dbSNP:rs28914834</li><li>K->N at 605: in dbSNP:rs6352</li>	serotonin transport	GO:0006837							<li>rs28914834</li><li>rs28914832</li><li>rs28914833</li><li>rs6352</li><li>rs2228673</li><li>rs6355</li>	2
P31785	3561		<li>D->N at 39: in XSCID, MIM: 300400</li><li>C->G at 62: in XSCID, MIM: 300400</li><li>E->G at 68: in XSCID, MIM: 300400</li><li>E->K at 68: in XSCID, MIM: 300400</li><li>N->K at 84: in XSCID, MIM: 300400</li><li>Y->C at 89: in XSCID, MIM: 300400</li><li>Y->C at 105: in XSCID, MIM: 300400</li><li>E->K at 109: in dbSNP:rs17875899, MIM: 300400</li><li>G->D at 114: in XSCID, MIM: 300400</li><li>C->F at 115: in XSCID, MIM: 300400</li><li>C->R at 115: in XSCID; atypical, MIM: 300400</li><li>H->P at 123: in XSCID, MIM: 300400</li><li>Y->N at 125: in XSCID, MIM: 300400</li><li>Q->P at 144: in XSCID, MIM: 300400</li><li>I->N at 153: in XSCID, MIM: 300400</li><li>A->V at 156: in XSCID, MIM: 300400</li><li>L->H at 162: in XSCID, MIM: 300400</li><li>L->P at 172: in XSCID, MIM: 300400</li><li>L->Q at 172: in XSCID, MIM: 300400</li><li>C->R at 182: in XSCID, MIM: 300400</li><li>L->S at 183: in XSCID, MIM: 300400</li><li>R->C at 222: in XCID, MIM: 312863</li><li>R->W at 224: in XSCID, MIM: 300400</li><li>R->C at 226: in XSCID, MIM: 300400</li><li>R->H at 226: in XSCID, MIM: 300400</li><li>F->C at 227: in XSCID, MIM: 300400</li><li>L->P at 230: in XSCID, MIM: 300400</li><li>C->Y at 231: in XSCID, MIM: 300400</li><li>G->R at 232: in XSCID, MIM: 300400</li><li>W->WQHW at 237: in XSCID, MIM: 300400</li><li>W->C at 240: in XSCID, MIM: 300400</li><li>S->I at 241: in XSCID, MIM: 300400</li><li>M->R at 270: in XSCID, MIM: 300400</li><li>R->Q at 285: in XSCID, MIM: 300400</li><li>L->Q at 293: in XCID, MIM: 312863</li>								<li>X-linked combined immunodeficiency (XCID) [MIM:312863]</li><li>X-linked severe combined immunodeficiency (XSCID) [MIM:300400]</li>	rs17875899	2
P31930	7384		<li>D->H at 215: in dbSNP:rs17080284</li><li>N->S at 301</li>									rs17080284	2
P31939	471		<li>T->S at 116: in dbSNP:rs2372536</li><li>K->R at 426: in AICA-ribosuria; loss of AICAR transformylase activity, MIM: 608688</li>							<li>Q8D244</li><li>Q5HUK6</li><li>Q97T99</li><li>Q8UBM8</li><li>Q87D58</li><li>Q9PNY2</li><li>Q9HUV9</li><li>P54113</li><li>Q5E257</li><li>Q5XEF2</li><li>Q89WU7</li><li>P43852</li><li>P57143</li><li>Q9F1T4</li><li>Q8YSJ2</li><li>Q9PC10</li><li>Q87KT0</li><li>Q8FR29</li><li>Q9JUQ8</li><li>Q8CT27</li><li>Q8ZAR3</li><li>Q71YQ3</li><li>P67539</li><li>Q8NS21</li><li>Q8RC55</li><li>Q6AD62</li><li>Q7MGT5</li><li>Q46480</li><li>Q9CWJ9</li><li>Q8DD06</li><li>Q9KY50</li><li>Q8DRM1</li><li>Q5HQ97</li><li>Q9ABY4</li><li>Q88DK3</li><li>Q8KA70</li><li>Q8KFK6</li><li>Q92AP3</li><li>P67545</li><li>P67544</li><li>Q8Z335</li><li>P67546</li><li>P67541</li><li>Q8NX88</li><li>P67540</li><li>P57828</li><li>Q8DWK8</li><li>P67543</li><li>P67542</li><li>P15639</li><li>P31335</li><li>Q6GI11</li><li>Q89B23</li><li>Q8CXK7</li><li>Q8P310</li><li>O67775</li><li>Q5HH11</li><li>Q7UKJ8</li><li>Q9JZM7</li><li>Q8G6B1</li><li>P12048</li><li>Q92KX6</li><li>Q6GAE0</li><li>Q9X0X6</li><li>Q8XMK2</li><li>Q9KF53</li><li>Q9RHX6</li><li>Q87VR9</li><li>Q8F3W6</li><li>P74741</li><li>Q8PD47</li><li>Q8FB68</li><li>Q8A155</li><li>Q8REV6</li><li>Q72RT5</li><li>P38009</li><li>P31939</li><li>Q9CFG0</li><li>Q97J91</li><li>Q8Y6C5</li><li>Q892X3</li><li>Q8Y232</li><li>Q8K8Y6</li><li>Q8PQ19</li><li>Q8DIN5</li><li>Q9KV80</li><li>Q88U29</li><li>Q8EJM1</li><li>P26978</li><li>Q9Z5H5</li><li>Q9RAJ5</li><li>Q8X611</li><li>Q9RW01</li><li>Q98ES7</li><li>O74928</li>	AICA-ribosuria [MIM:608688]	rs2372536	2
P31941	200315		<li>T->A at 19: in dbSNP:rs17000556</li>									rs17000556	2
P31942	3189		<li>N->S at 163: in dbSNP:rs2273903</li><li>G->A at 284: in dbSNP:rs16925347</li>									<li>rs2273903</li><li>rs16925347</li>	2
P31947	2810		<li>M->I at 155: in dbSNP:rs11542705</li>									rs11542705	2
P31994	2213		<li>Y->F at 205: in dbSNP:rs1050499</li><li>I->T at 232</li><li>Y->D at 258</li>									rs1050499	2
P31997	1088		<li>G->V at 17: in dbSNP:rs28367882</li><li>A->V at 45: in dbSNP:rs35221575</li><li>R->K at 114: in dbSNP:rs1041997</li><li>L->V at 322: in dbSNP:rs45476198</li><li>I->M at 340: in dbSNP:rs8103051</li>									<li>rs8103051</li><li>rs45476198</li><li>rs28367882</li><li>rs1041997</li><li>rs35221575</li>	2
P32004	3897		<li>W->S at 9: in HSAS, MIM: 307000</li><li>H->N at 30, MIM: 307000</li><li>G->S at 121: in HSAS, MIM: 307000</li><li>I->S at 179: in HSAS, MASA and SPG1, MIM: 303350</li><li>R->Q at 184: in HSAS; severe, MIM: 307000</li><li>R->W at 184: in HSAS, MIM: 307000</li><li>Y->C at 194: in HSAS, MIM: 307000</li><li>D->Y at 202: in MASA, MIM: 303350</li><li>H->Q at 210: in MASA; dbSNP:rs28933683, MIM: 303350</li><li>I->T at 219: in HSAS, MIM: 307000</li><li>P->L at 240: in HSAS and partial agenesis of the corpus callosum, MIM: 304100</li><li>C->Y at 264: in HSAS; severe, MIM: 307000</li><li>G->D at 268: in MASA, MIM: 303350</li><li>E->K at 309: in MASA, MIM: 303350</li><li>W->C at 335: in HSAS, MIM: 307000</li><li>W->R at 335: in HSAS, MASA and HSCR, MIM: 303350</li><li>G->R at 370: in HSAS, MASA and SPG1, MIM: 303350</li><li>R->C at 386: in HSAS, MIM: 307000</li><li>N->I at 408: in HSAS, MIM: 307000</li><li>A->P at 415: in HSAS, MIM: 307000</li><li>V->D at 421: in HSAS, MIM: 307000</li><li>A->D at 426: in MASA, MIM: 303350</li><li>Missing  at 439-443: in HSAS, MIM: 303350</li><li>G->R at 452: in HSAS; severe, MIM: 307000</li><li>R->C at 473: in HSAS and MASA, MIM: 303350</li><li>L->P at 482: in MASA, MIM: 303350</li><li>C->Y at 497: in HSAS, MIM: 307000</li><li>Missing  at 526: in HSAS, MIM: 307000</li><li>S->P at 542: in HSAS, MIM: 307000</li><li>D->N at 598: in MASA, MIM: 303350</li><li>R->P at 632: in MASA, MIM: 303350</li><li>K->E at 655: in HSAS, MIM: 307000</li><li>S->C at 674: in MASA; associated with callosal agenesis, MIM: 303350</li><li>A->D at 691: in MASA; associated with callosal agenesis, MIM: 303350</li><li>A->T at 691: in HSAS, MIM: 307000</li><li>G->R at 698: in HSAS and MASA; associated with callosal agenesis, MIM: 303350</li><li>R->W at 739, MIM: 303350</li><li>M->T at 741: in HSAS, MIM: 307000</li><li>R->P at 751: in HSAS, MIM: 307000</li><li>V->M at 752: in MASA, HSCR and HSAS, MIM: 303350</li><li>V->F at 768: in HSAS, MIM: 307000</li><li>V->I at 768: in dbSNP rsrs36021462, MIM: 307000</li><li>D->N at 770: in MASA; associated with callosal agenesis, MIM: 303350</li><li>Y->C at 784: in HSAS, MIM: 307000</li><li>L->P at 935: in HSAS, MIM: 307000</li><li>Missing  at 936-948: in HSAS, MIM: 307000</li><li>P->L at 941: in HSAS and MASA, MIM: 303350</li><li>Y->C at 1070: in HSAS, MIM: 307000</li><li>S->L at 1194: in HSAS and MASA, MIM: 303350</li><li>S->L at 1224: in HSAS, MIM: 307000</li><li>G->E at 1239, MIM: 307000</li>							<li>Q0VD27</li><li>P15519</li><li>Q9UHY7</li>	<li>Hirschsprung disease (HSCR) [MIM:142623]</li><li>Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]</li><li>Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350]</li><li>Partial agenesis of the corpus callosum [MIM:304100]</li><li>Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]</li>	<li>rs36021462</li><li>rs28933683</li>	2
P32019	3633		<li>T->M at 745: in dbSNP:rs11488569</li>									rs11488569	2
P32119	7001		<li>D->E at 153: in dbSNP rsrs34012472</li>									rs34012472	2
P32189			<li>S->N at 185</li><li>N->H at 232</li><li>N->D at 294: in GKD, MIM: 307030</li><li>A->T at 382, MIM: 307030</li><li>D->V at 446: in GKD, MIM: 307030</li><li>W->R at 509: in GKD, MIM: 307030</li>								GK deficiency (GKD) [MIM:307030]		2
P32239	887		<li>L->F at 37: in dbSNP:rs1805000</li><li>V->G at 77: in dbSNP:rs35816985</li><li>V->I at 125: in dbSNP:rs1805002</li><li>R->H at 215: in dbSNP:rs1805004</li><li>R->Q at 319: in dbSNP:rs1805001</li>									<li>rs1805000</li><li>rs1805002</li><li>rs1805001</li><li>rs1805004</li><li>rs35816985</li>	2
P32241	7433		<li>R->M at 341: in dbSNP:rs17855906</li><li>R->L at 445: in dbSNP:rs3733055</li>									<li>rs3733055</li><li>rs17855906</li>	2
P32243	5015		<li>R->G at 89: in MCOPS5, MIM: 610125</li><li>P->T at 133: in MCOPS5, MIM: 610125</li><li>P->A at 134: in MCOPS5, MIM: 610125</li>								Microphthalmia syndromic type 5 (MCOPS5) [MIM:610125]		2
P32245	4160		<li>T->A at 11: in obesity; partial activity</li><li>S->R at 30: in obesity</li><li>S->Y at 36: in obesity; shows the same affinity as the wild-type but significant impairment of cAMP-induced activity in response to melanotan II compared with the wild-type receptor</li><li>D->V at 37: in obesity; dbSNP:rs13447325</li><li>V->M at 50: in obesity</li><li>S->C at 58: in obesity</li><li>N->S at 62: in obesity; shows a partial cAMP response to alpha-MSH</li><li>P->L at 78: in obesity; dbSNP:rs13447326</li><li>Missing  at 88-92: in obesity; the mutant receptor is expressed well on the cell surface but is completely devoid of ligand binding and cAMP generation in response to agonist stimulation</li><li>N->D at 97: in obesity; completely unable to generate cAMP in response to ligand; shows evidence of impaired cell surface expression</li><li>I->S at 102: in obesity; shows the same affinity as the wild-type but significant impairment of cAMP-induced activity in response to melanotan II compared with the wild-type receptor</li><li>I->T at 102: in obesity</li><li>V->I at 103: in dbSNP:rs2229616</li><li>L->P at 106: in obesity; completely unable to generate cAMP in response to ligand; shows evidence of impaired cell surface expression</li><li>T->M at 112: in obesity; could be a polymorphism; dbSNP:rs13447329</li><li>I->K at 125: in obesity; completely unable to generate cAMP in response to ligand; shows evidence of impaired cell surface expression</li><li>S->L at 127: in obesity; signaling properties in response to alpha-MSH, beta-MSH and gamma-1-MSH are impaired; dbSNP:rs13447331</li><li>R->Q at 165: in obesity; shows a partial cAMP response to alpha-MSH; dbSNP:rs13447332</li><li>R->W at 165: in obesity: in dbSNP rsrs13447332</li><li>I->V at 170: in obesity</li><li>A->T at 175: in obesity; shows a partial cAMP response to alpha-MSH</li><li>G->D at 181: in obesity; does not bind alpha-MSH; dbSNP:rs13447333</li><li>A->V at 219: in obesity; shows significantly impairment of cAMP-induced activity in response to melanotan II compared with the wild-type receptor</li><li>I->T at 226</li><li>I->L at 251: in dbSNP:rs52820871</li><li>G->S at 252: in obesity; dbSNP:rs13447336</li><li>V->I at 253: in obesity; shows a partial cAMP response to alpha-MSH</li><li>C->R at 271: in obesity; completely unable to generate cAMP in response to ligand; shows impaired cell surface expression</li><li>C->Y at 271: in obesity; no activity</li><li>N->S at 274: in obesity</li><li>I->S at 316: in obesity; shows reduced cAMP response to alpha-MSH; retains normal affinity for the antagonist AGRP</li><li>I->T at 317: in obesity; dbSNP:rs13447337</li><li>L->F at 325: in obesity; does not bind alpha-MSH</li>			binding	GO:0005488	cell surface	GO:0009928,GO:0009986	<li>P68000</li><li>P68001</li><li>Q9YGK2</li><li>Q9YGK4</li><li>P56568</li><li>P10000</li><li>P22923</li><li>P01189</li><li>P01197</li><li>P01196</li><li>P87352</li><li>P01194</li><li>P01193</li><li>P01192</li><li>P01191</li><li>P01190</li><li>P19402</li><li>P01206</li><li>P61281</li><li>P41589</li><li>P01201</li><li>P01202</li><li>Q91082</li><li>P61280</li><li>Q9TU18</li><li>P56413</li><li>P06298</li><li>P06297</li><li>P11280</li><li>Q9YGK5</li><li>P06299</li><li>P11885</li><li>O00253</li><li>P21252</li>		<li>rs13447329</li><li>rs2229616</li><li>rs13447326</li><li>rs13447325</li><li>rs13447337</li><li>rs13447336</li><li>rs13447332</li><li>rs52820871</li><li>rs13447333</li><li>rs13447331</li>	2
P32247	680		<li>T->P at 53: in dbSNP:rs5232</li><li>L->Q at 162: in dbSNP:rs5234</li>									<li>rs5232</li><li>rs5234</li>	2
P32248	1236		<li>M->V at 7: in dbSNP:rs45521932</li>									rs45521932	2
P32249	1880		<li>A->V at 338: in an acute myeloid leukemia sample; somatic mutation</li>										2
P32297	1136		<li>L->LL at 21</li>										2
P32298	2868		<li>R->L at 65: in dbSNP:rs2960306</li><li>D->H at 95: in dbSNP:rs13305979</li><li>A->T at 116: in dbSNP:rs34857805</li><li>A->V at 142: in dbSNP:rs1024323</li><li>T->R at 183: in dbSNP:rs45538934</li><li>V->I at 247: in dbSNP:rs35605687</li><li>H->Q at 383: in dbSNP rsrs55852353</li><li>L->P at 425: in dbSNP rsrs34022679</li><li>A->V at 440: in dbSNP:rs1801058</li><li>V->I at 473: in dbSNP rsrs35024854</li><li>V->A at 486: in dbSNP:rs1801058</li><li>A->T at 495: in dbSNP rsrs35463176</li>									<li>rs35463176</li><li>rs35605687</li><li>rs2960306</li><li>rs45538934</li><li>rs35024854</li><li>rs1024323</li><li>rs34857805</li><li>rs13305979</li><li>rs1801058</li><li>rs34022679</li><li>rs55852353</li>	2
P32302	643		<li>E->K at 34: in a breast cancer sample; somatic mutation</li><li>G->S at 344: in dbSNP:rs665648</li>									rs665648	2
P32320	978		<li>K->Q at 27: in dbSNP:rs2072671</li>									rs2072671	2
P32418	6546		<li>E->V at 692: in dbSNP:rs5557</li>									rs5557	2
P32455	2633		<li>I->V at 78: in dbSNP:rs1048401</li><li>E->D at 166: in dbSNP:rs17130717</li><li>S->T at 349: in dbSNP:rs1048425</li><li>G->A at 409: in dbSNP:rs1048443</li>									<li>rs1048401</li><li>rs1048443</li><li>rs1048425</li><li>rs17130717</li>	2
P32519	1997		<li>N->S at 58: in dbSNP:rs7799</li><li>T->S at 343: in dbSNP:rs1056820</li><li>T->I at 403: in dbSNP:rs7323148</li>									<li>rs1056820</li><li>rs7799</li><li>rs7323148</li>	2
P32745	6753		<li>A->V at 33: in dbSNP:rs4988466</li><li>P->L at 37: in dbSNP:rs34943557</li><li>S->F at 251: in dbSNP:rs6413537</li><li>R->C at 336: in dbSNP:rs4988469</li><li>S->T at 411: in dbSNP:rs229568</li><li>R->H at 414: in dbSNP:rs4988471</li>									<li>rs34943557</li><li>rs4988471</li><li>rs4988466</li><li>rs6413537</li><li>rs4988469</li><li>rs229568</li>	2
P32754	3242		<li>A->T at 33: in two patients with hawkinsinuria; dbSNP:rs1154510</li><li>R->Q at 113: in dbSNP:rs11833399</li><li>Y->C at 160: in TYRO3: in dbSNP rsrs28934278, MIM: 276710</li><li>I->F at 267, MIM: 276710</li><li>A->V at 268: in TYRO3, MIM: 276710</li><li>I->M at 335: in TYRO3, MIM: 276710</li><li>V->L at 340: in dbSNP:rs36023382, MIM: 276710</li>							Q06418	Tyrosinemia type 3 (TYRO3) [MIM:276710]	<li>rs28934278</li><li>rs36023382</li><li>rs1154510</li><li>rs11833399</li>	2
P32780	2965		<li>R->W at 234: in dbSNP:rs4150603</li><li>S->F at 285: in dbSNP:rs4150636</li><li>L->V at 517: in dbSNP:rs4150665</li>									<li>rs4150603</li><li>rs4150665</li><li>rs4150636</li>	2
P32856	2054		<li>S->T at 42: in dbSNP:rs17564</li>									rs17564	2
P32881	3445		<li>E->K at 137: in dbSNP:rs3739630</li>									rs3739630	2
P32927	1439		<li>E->Q at 249: in dbSNP:rs16845</li><li>P->T at 603: in PAP; dbSNP:rs1801122, MIM: 265120</li><li>G->V at 647: in dbSNP:rs1801115, MIM: 265120</li><li>V->M at 652: in dbSNP:rs1801114, MIM: 265120</li><li>P->S at 696: in dbSNP:rs16997517, MIM: 265120</li>							<li>P16790</li><li>O32449</li><li>Q9NVV4</li><li>Q97A76</li><li>Q9JUV1</li><li>O74326</li><li>P52440</li><li>Q9PD69</li><li>Q06141</li><li>Q09131</li><li>Q9ZWQ8</li><li>Q87DF8</li><li>Q51D88</li><li>P75092</li><li>P96084</li><li>Q9D0D3</li><li>P51004</li><li>P28958</li><li>P51005</li><li>Q97UA2</li><li>P51006</li><li>P52439</li><li>O96690</li><li>O43150</li><li>P51003</li><li>P42786</li><li>P0ABF1</li><li>P0ABF2</li><li>P0ABF3</li><li>P84399</li><li>Q3UHX2</li><li>P10226</li><li>O83041</li><li>Q10295</li><li>Q9UT49</li><li>P29468</li><li>Q61183</li><li>P25500</li><li>O74518</li><li>P27417</li><li>Q9JZR6</li><li>Q62785</li><li>P93732</li><li>Q8Z9C3</li><li>Q8ZRQ8</li><li>Q7SIG6</li><li>P52279</li><li>P80366</li><li>Q38924</li><li>P52278</li><li>Q9S2L4</li><li>P09274</li><li>Q13442</li><li>P46544</li><li>P46541</li><li>P46542</li><li>Q9UTN3</li><li>P46547</li><li>P36322</li><li>P47266</li><li>P44439</li><li>P36702</li>	Congenital pulmonary alveolar proteinosis (PAP) [MIM:265120]	<li>rs1801115</li><li>rs16845</li><li>rs1801114</li><li>rs1801122</li><li>rs16997517</li>	2
P32929	1491		<li>T->I at 67: in cystathionuria; dbSNP:rs28941785</li><li>Q->E at 240: in cystathionuria: in dbSNP rsrs28941786</li><li>S->I at 403: in dbSNP:rs1021737</li>									<li>rs1021737</li><li>rs28941786</li><li>rs28941785</li>	2
P32930	654231		<li>Q->R at 20: in dbSNP:rs13312633</li>									rs13312633	2
P32942	3385		<li>I->V at 63: in dbSNP:rs17697947</li><li>D->G at 143: in dbSNP:rs2304237</li><li>S->T at 525: in dbSNP:rs2230399</li>									<li>rs2304237</li><li>rs17697947</li><li>rs2230399</li>	2
P33076	4261		<li>L->V at 45: in dbSNP:rs2229317</li><li>K->IE at 120: in BLS2</li><li>G->R at 174: in dbSNP:rs8046121</li><li>L->P at 469: in BLS2; mild immunodeficiency; has residual MHC class II trans activation activity, MIM: 209920</li><li>G->A at 500: in dbSNP:rs4774, MIM: 209920</li><li>A->G at 658: in dbSNP:rs2229319, MIM: 209920</li><li>R->Q at 900: in dbSNP:rs7197779, MIM: 209920</li><li>Missing  at 940-963: in BLS2, MIM: 209920</li><li>F->S at 962: in BLS2, MIM: 209920</li><li>Missing  at 964-991: in BLS2, MIM: 209920</li><li>Missing  at 1027: in BLS2, MIM: 209920</li>								Bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]	<li>rs2229317</li><li>rs2229319</li><li>rs4774</li><li>rs7197779</li><li>rs8046121</li>	2
P33151	1003		<li>I->T at 503: in dbSNP:rs16956504</li><li>T->I at 517: in dbSNP:rs1049970</li>									<li>rs1049970</li><li>rs16956504</li>	2
P33241	4046		<li>A->T at 100: in dbSNP:rs621679</li><li>Q->K at 229: in dbSNP:rs1803928</li>									<li>rs621679</li><li>rs1803928</li>	2
P33260	1562		<li>T->M at 385: in dbSNP:rs2281891</li>									rs2281891	2
P33261	1557		<li>L->P at 17: in allele CYP2C19*14: in dbSNP rsrs55752064</li><li>I->L at 19: in allele CYP2C19*15: in dbSNP rsrs17882687</li><li>S->G at 51: in allele CYP2C19*19</li><li>M->T at 74: in dbSNP rsrs28399505</li><li>E->D at 92: in dbSNP rsrs17878459</li><li>W->R at 120: in allele CYP2C19*8; loss of activity: in dbSNP rsrs41291556</li><li>E->A at 122: in dbSNP rsrs17885179</li><li>R->Q at 132: in allele CYP2C19*6; loss of activity</li><li>R->H at 144: in allele CYP2C19*9: in dbSNP rsrs17884712</li><li>R->H at 150: in allele CYP2C19*11: in dbSNP rsrs58973490</li><li>A->P at 161</li><li>F->L at 168: in dbSNP rsrs28399510</li><li>P->L at 227: in allele CYP2C19*10; dbSNP:rs6413438</li><li>R->H at 329: in allele CYP2C19*18</li><li>V->I at 331: in allele CYP2C19*1A, allele CYP2C19*5A, allele CYP2C19*8 and allele CYP2C19*16: in dbSNP rsrs3758581</li><li>R->C at 410: in allele CYP2C19*13: in dbSNP rsrs17879685</li><li>R->W at 433: in allele CYP2C19*5A and allele CYP2C19*5B; loss of activity: in dbSNP rsrs56337013</li><li>R->C at 442: in allele CYP2C19*16; lowered catalytic activity</li>			catalytic activity	GO:0003824			P33261		<li>rs55752064</li><li>rs17884712</li><li>rs3758581</li><li>rs17878459</li><li>rs17879685</li><li>rs6413438</li><li>rs17882687</li><li>rs28399505</li><li>rs17885179</li><li>rs58973490</li><li>rs41291556</li><li>rs28399510</li><li>rs56337013</li>	2
P33316	1854		<li>P->S at 100: in dbSNP rsrs28381104</li>									rs28381104	2
P33402	2977		<li>E->V at 681: in a colorectal cancer sample; somatic mutation</li><li>N->T at 685: in a colorectal cancer sample; somatic mutation</li>										2
P33763	6276		<li>D->G at 54</li>										2
P33765	140		<li>A->T at 105: in a colorectal cancer sample; somatic mutation</li><li>I->L at 248: in dbSNP:rs35511654</li><li>M->K at 266: in dbSNP:rs2800889</li>									<li>rs35511654</li><li>rs2800889</li>	2
P33897	215		<li>N->T at 13: very rare polymorphism; does not affect ALDP function</li><li>C->W at 88: in X-ALD, MIM: 300100</li><li>E->K at 90: in X-ALD, MIM: 300100</li><li>S->L at 98: in X-ALD; CALD type, MIM: 300100</li><li>A->D at 99: in X-ALD; AMN-type, MIM: 300100</li><li>S->R at 103: in X-ALD, MIM: 300100</li><li>R->C at 104: in X-ALD, MIM: 300100</li><li>R->H at 104: in X-ALD; ADO-type, MIM: 300100</li><li>T->I at 105: in X-ALD; ADO-type, MIM: 300100</li><li>T->P at 105: in X-ALD, MIM: 300100</li><li>L->P at 107: in X-ALD; ALD/AMN/ADO-types and asymptomatic, MIM: 300100</li><li>S->L at 108: in X-ALD, MIM: 300100</li><li>S->W at 108: in X-ALD; CALD and AMN-types, MIM: 300100</li><li>R->C at 113: in X-ALD, MIM: 300100</li><li>R->P at 113: in X-ALD, MIM: 300100</li><li>G->R at 116: in X-ALD; CALD-type, MIM: 300100</li><li>Missing  at 138-141: in X-ALD; ALD-type, MIM: 300100</li><li>A->T at 141: in X-ALD, MIM: 300100</li><li>P->S at 143: in X-ALD, MIM: 300100</li><li>N->S at 148: in X-ALD; ADO-type, MIM: 300100</li><li>S->N at 149: in X-ALD, MIM: 300100</li><li>R->C at 152: in X-ALD; ADO-type, MIM: 300100</li><li>R->L at 152: in X-ALD, MIM: 300100</li><li>R->P at 152: in X-ALD, MIM: 300100</li><li>R->S at 152: in X-ALD, MIM: 300100</li><li>S->P at 161: in X-ALD, MIM: 300100</li><li>R->H at 163: in X-ALD, MIM: 300100</li><li>R->P at 163: in X-ALD, MIM: 300100</li><li>Y->C at 174: in X-ALD, MIM: 300100</li><li>Y->D at 174: in X-ALD; ALD-type, MIM: 300100</li><li>Y->S at 174: in X-ALD; CALD-type, MIM: 300100</li><li>Q->E at 178: in X-ALD; AMN-type, MIM: 300100</li><li>Y->C at 181: in X-ALD; ALMD-type, MIM: 300100</li><li>R->P at 182: in X-ALD, MIM: 300100</li><li>R->W at 189: in X-ALD, MIM: 300100</li><li>L->P at 190: in X-ALD, MIM: 300100</li><li>D->H at 194: in X-ALD, MIM: 300100</li><li>T->K at 198: in X-ALD, MIM: 300100</li><li>D->N at 200: in X-ALD, MIM: 300100</li><li>D->V at 200: in X-ALD; CALD-type, MIM: 300100</li><li>S->SAAS at 207: in X-ALD, MIM: 300100</li><li>L->P at 211: in X-ALD, MIM: 300100</li><li>S->C at 213: in X-ALD, MIM: 300100</li><li>N->D at 214: in X-ALD, MIM: 300100</li><li>K->E at 217: in X-ALD, MIM: 300100</li><li>P->T at 218: in X-ALD, MIM: 300100</li><li>L->P at 220: in X-ALD, MIM: 300100</li><li>D->G at 221: in X-ALD; CALD and AMN-types, MIM: 300100</li><li>V->E at 224: in X-ALD, MIM: 300100</li><li>L->P at 229: in X-ALD, MIM: 300100</li><li>T->M at 254: in X-ALD; AMN-type, MIM: 300100</li><li>T->P at 254: in X-ALD; AMN-type, MIM: 300100</li><li>P->L at 263: in X-ALD; CALD, AMN and AD-types, MIM: 300100</li><li>G->R at 266: in X-ALD, MIM: 300100</li><li>E->K at 271: in X-ALD, MIM: 300100</li><li>R->W at 274: in X-ALD, MIM: 300100</li><li>K->E at 276: in X-ALD; CALD-type, MIM: 300100</li><li>G->GN at 277: in X-ALD; ADO-type, MIM: 300100</li><li>G->R at 277: in X-ALD; AMN-type, MIM: 300100</li><li>G->W at 277: in X-ALD, MIM: 300100</li><li>R->C at 280: in X-ALD, MIM: 300100</li><li>R->P at 285: in X-ALD, MIM: 300100</li><li>E->D at 291: in X-ALD; ACALD and CALD-types, MIM: 300100</li><li>E->K at 291: in X-ALD, MIM: 300100</li><li>Missing  at 291: in X-ALD; ALD-type, MIM: 300100</li><li>A->T at 294: in X-ALD; AMN-type, MIM: 300100</li><li>Y->C at 296: in X-ALD, MIM: 300100</li><li>G->D at 298: in X-ALD, MIM: 300100</li><li>E->EVGQ at 300: in X-ALD, MIM: 300100</li><li>E->K at 302: in X-ALD, MIM: 300100</li><li>L->P at 322: in X-ALD, MIM: 300100</li><li>K->M at 336: in X-ALD, MIM: 300100</li><li>W->R at 339: in X-ALD, MIM: 300100</li><li>S->P at 342: in X-ALD; AMN-type, MIM: 300100</li><li>G->D at 343: in X-ALD, MIM: 300100</li><li>G->S at 343: in X-ALD, MIM: 300100</li><li>R->G at 389: in X-ALD; AMN-type, MIM: 300100</li><li>R->H at 389: in X-ALD; does not affect protein stability, homo- and heterodimerization with ALDR and PMP70, MIM: 300100</li><li>R->Q at 401: in X-ALD; ALD and AMN-types; does not affect protein stability, homo- and heterodimerization with ALDR and PMP70, MIM: 300100</li><li>R->W at 401: in X-ALD, MIM: 300100</li><li>R->W at 418: in X-ALD; AMN-type, MIM: 300100</li><li>Missing  at 427: in X-ALD, MIM: 300100</li><li>P->R at 484: in X-ALD; CALD, AMN and ADO-types; significantly decreases homodimerization and abolishes heterodimerization with ALDR and PMP70, MIM: 300100</li><li>L->P at 503: in X-ALD, MIM: 300100</li><li>G->V at 507: in X-ALD; CALD-types, MIM: 300100</li><li>G->S at 512: in X-ALD; CALD and AS-types; reduced ATPase activity, MIM: 300100</li><li>S->R at 514: in X-ALD, MIM: 300100</li><li>S->F at 515: in X-ALD, MIM: 300100</li><li>R->Q at 518: in X-ALD; CALD-type, MIM: 300100</li><li>R->W at 518: in X-ALD; CALD-type, MIM: 300100</li><li>G->W at 522: in X-ALD; AD-type, MIM: 300100</li><li>Missing  at 528: in X-ALD; CALD-type, MIM: 300100</li><li>G->S at 529: in X-ALD, MIM: 300100</li><li>P->L at 534: in X-ALD; CALD-type, MIM: 300100</li><li>F->S at 540: in X-ALD, MIM: 300100</li><li>P->L at 543: in X-ALD, MIM: 300100</li><li>Q->R at 544: in X-ALD, MIM: 300100</li><li>S->P at 552: in X-ALD, MIM: 300100</li><li>R->H at 554: in X-ALD, MIM: 300100</li><li>Q->R at 556: in X-ALD; ACALD type, MIM: 300100</li><li>P->L at 560: in X-ALD; CALD-type, MIM: 300100</li><li>P->R at 560: in X-ALD; AMN and ALMD-types, MIM: 300100</li><li>P->S at 560: in X-ALD, MIM: 300100</li><li>M->K at 566: in X-ALD, MIM: 300100</li><li>R->P at 591: in X-ALD, MIM: 300100</li><li>R->Q at 591: in X-ALD; AMN-type; significantly decreases homodimerization and abolishes heterodimerization with ALDR and PMP70, MIM: 300100</li><li>R->W at 591: in X-ALD, MIM: 300100</li><li>S->L at 606: in X-ALD; decreased ATP-binding affinity, MIM: 300100</li><li>S->P at 606: in X-ALD; CALD, AMN and ALMD-types, MIM: 300100</li><li>G->D at 608: in X-ALD; CALD-type, MIM: 300100</li><li>E->G at 609: in X-ALD, MIM: 300100</li><li>E->K at 609: in X-ALD; AMN-type, MIM: 300100</li><li>A->V at 616: in X-ALD, MIM: 300100</li><li>R->C at 617: in X-ALD; ALD-type and asymptomatic, MIM: 300100</li><li>R->G at 617: in X-ALD; ADO and AMN-types with cerebral involvement, MIM: 300100</li><li>R->H at 617: in X-ALD, MIM: 300100</li><li>A->D at 626: in X-ALD, MIM: 300100</li><li>A->T at 626: in X-ALD; CALD and AMN-types, MIM: 300100</li><li>D->H at 629: in X-ALD, MIM: 300100</li><li>E->G at 630: in X-ALD, MIM: 300100</li><li>C->Y at 631: in X-ALD, MIM: 300100</li><li>T->I at 632: in X-ALD, MIM: 300100</li><li>S->I at 633: in X-ALD; asymptomatic, MIM: 300100</li><li>S->R at 633: in X-ALD, MIM: 300100</li><li>V->M at 635: in X-ALD, MIM: 300100</li><li>S->I at 636: in X-ALD, MIM: 300100</li><li>D->Y at 638: in X-ALD, MIM: 300100</li><li>A->P at 646: in X-ALD, MIM: 300100</li><li>L->P at 654: in X-ALD, MIM: 300100</li><li>Missing  at 657: in X-ALD; CALD-type, MIM: 300100</li><li>R->P at 660: in X-ALD; CALD-type, MIM: 300100</li><li>R->W at 660: in X-ALD; CALD, ALMD and AS-types, MIM: 300100</li><li>H->D at 667: in X-ALD, MIM: 300100</li><li>T->I at 668: in X-ALD, MIM: 300100</li><li>W->R at 679: in X-ALD; AMN-type, MIM: 300100</li><li>T->M at 693: in X-ALD, MIM: 300100</li>			<li>ATP-binding</li><li>ATPase activity</li>	<li>GO:0005524</li><li>GO:0016887</li>			<li>P33897</li><li>Q9BXJ7</li><li>P48410</li><li>Q6UKI2</li><li>P28288</li><li>P16970</li><li>P55096</li><li>Q9UBJ2</li><li>P07752</li><li>Q40677</li>	Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]		2
P33908	4121		<li>R->G at 651: in dbSNP:rs35544784</li>									rs35544784	2
P33981	7272		<li>A->V at 97: in dbSNP:rs2230513</li><li>D->N at 758: in dbSNP:rs2230512</li>									<li>rs2230512</li><li>rs2230513</li>	2
P33991	4173		<li>E->G at 460: in dbSNP:rs17287663</li><li>L->M at 650: in dbSNP:rs762679</li>									<li>rs17287663</li><li>rs762679</li>	2
P33992	4174		<li>S->T at 136: in dbSNP:rs2307334</li><li>T->S at 180: in dbSNP:rs2307340</li><li>V->I at 258: in dbSNP:rs2230933</li>									<li>rs2307340</li><li>rs2230933</li><li>rs2307334</li>	2
P33993	4176		<li>R->Q at 114: in dbSNP:rs2307348</li><li>N->S at 144: in dbSNP:rs2070215</li><li>G->S at 473: in dbSNP:rs2307347</li>									<li>rs2070215</li><li>rs2307348</li><li>rs2307347</li>	2
P34059	2588		<li>L->M at 15: in MPS4A, MIM: 253000</li><li>Missing  at 17-18: in MPS4A, MIM: 253000</li><li>G->R at 23: in MPS4A, MIM: 253000</li><li>L->P at 36: in MPS4A, MIM: 253000</li><li>M->L at 41: in MPS4A, MIM: 253000</li><li>G->E at 42: in MPS4A, MIM: 253000</li><li>G->R at 47: in MPS4A; severe form, MIM: 253000</li><li>Missing  at 52-55: in MPS4A, MIM: 253000</li><li>S->F at 53: in MPS4A, MIM: 253000</li><li>D->N at 60: in MPS4A; mild form, MIM: 253000</li><li>R->W at 61: in MPS4A, MIM: 253000</li><li>L->M at 67: associated with S-409 in a MPS4A patient; dbSNP:rs11862754, MIM: 253000</li><li>F->V at 69: in MPS4A, MIM: 253000</li><li>NFYS->T at 71-74: in MPS4A, MIM: 253000</li><li>P->R at 77: in MPS4A; severe form, MIM: 253000</li><li>C->Y at 79: in MPS4A, MIM: 253000</li><li>S->L at 80: in MPS4A; intermediate form, MIM: 253000</li><li>R->W at 90: in MPS4A; severe form, MIM: 253000</li><li>R->C at 94: in MPS4A; mild/intermediate form, MIM: 253000</li><li>R->G at 94: in MPS4A; mild/intermediate form, MIM: 253000</li><li>R->L at 94: in MPS4A, MIM: 253000</li><li>G->C at 96: in MPS4A, MIM: 253000</li><li>G->V at 96: in MPS4A; severe form, MIM: 253000</li><li>F->V at 97: in MPS4A; mild form, MIM: 253000</li><li>A->T at 107: in MPS4A, MIM: 253000</li><li>Q->R at 111: in MPS4A; intermediate form, MIM: 253000</li><li>I->F at 113: in MPS4A; severe form; common mutation; found in patients with Irish-British ancestry, MIM: 253000</li><li>G->S at 116: in MPS4A, MIM: 253000</li><li>P->L at 125: in MPS4A; severe form, MIM: 253000</li><li>S->R at 135: in MPS4A; severe form, MIM: 253000</li><li>V->A at 138: in MPS4A; mild/severe/intermediate form, MIM: 253000</li><li>G->S at 139: in MPS4A; severe form, MIM: 253000</li><li>W->C at 141: in MPS4A, MIM: 253000</li><li>W->R at 141: in MPS4A; severe form, MIM: 253000</li><li>H->Y at 150: in MPS4A, MIM: 253000</li><li>P->L at 151: in MPS4A; severe form, MIM: 253000</li><li>P->S at 151: in MPS4A; severe form, MIM: 253000</li><li>G->E at 155: in MPS4A, MIM: 253000</li><li>G->R at 155: in MPS4A; severe form, MIM: 253000</li><li>F->C at 156: in MPS4A; severe form, MIM: 253000</li><li>F->S at 156: in MPS4A; mild form, MIM: 253000</li><li>S->F at 162: in MPS4A, MIM: 253000</li><li>N->T at 164: in MPS4A, MIM: 253000</li><li>H->Q at 166: in MPS4A; severe form, MIM: 253000</li><li>F->V at 167: in MPS4A, MIM: 253000</li><li>G->R at 168: in MPS4A, MIM: 253000</li><li>D->A at 171: in MPS4A, MIM: 253000</li><li>I->V at 178, MIM: 253000</li><li>P->H at 179: in MPS4A; severe form, MIM: 253000</li><li>P->L at 179: in MPS4A; severe form, MIM: 253000</li><li>P->S at 179: in MPS4A, MIM: 253000</li><li>E->G at 185: in MPS4A; severe form, MIM: 253000</li><li>T->M at 200: in dbSNP:rs7187889, MIM: 253000</li><li>A->V at 203: in MPS4A, MIM: 253000</li><li>N->K at 204: in MPS4A; mild form, MIM: 253000</li><li>W->G at 230: in MPS4A; severe form, MIM: 253000</li><li>A->G at 231: in dbSNP:rs34745339, MIM: 253000</li><li>D->N at 233: in MPS4A, MIM: 253000</li><li>V->F at 239: in MPS4A, MIM: 253000</li><li>G->D at 247: in MPS4A, MIM: 253000</li><li>R->W at 253: in MPS4A, MIM: 253000</li><li>A->T at 257: in MPS4A; severe form, MIM: 253000</li><li>R->Q at 259: in MPS4A; mild form, MIM: 253000</li><li>E->D at 260: in MPS4A, MIM: 253000</li><li>Missing  at 279-287: in MPS4A; mild form, MIM: 253000</li><li>F->V at 284: in MPS4A; severe form, MIM: 253000</li><li>Missing  at 285: in MPS4A, MIM: 253000</li><li>S->L at 287: in MPS4A; severe form, MIM: 253000</li><li>G->S at 290: in MPS4A; severe form, MIM: 253000</li><li>A->D at 291: in MPS4A; mild form, MIM: 253000</li><li>A->T at 291: in MPS4A; severe form, MIM: 253000</li><li>S->F at 295: in MPS4A; mild form, MIM: 253000</li><li>G->C at 301: in MPS4A; severe form, MIM: 253000</li><li>L->P at 307: in MPS4A, MIM: 253000</li><li>G->R at 309: in MPS4A; severe form, MIM: 253000</li><li>K->N at 310: in MPS4A, MIM: 253000</li><li>T->S at 312: in MPS4A; mild/intermediate/severe form, MIM: 253000</li><li>M->R at 318: in MPS4A; severe form, MIM: 253000</li><li>W->C at 325: in MPS4A, MIM: 253000</li><li>Missing  at 325: in MPS4A, MIM: 253000</li><li>G->D at 340: in MPS4A, MIM: 253000</li><li>S->R at 341: in MPS4A, MIM: 253000</li><li>M->R at 343: in MPS4A; severe form, MIM: 253000</li><li>D->E at 344: in MPS4A, MIM: 253000</li><li>D->N at 344: in MPS4A; severe form, MIM: 253000</li><li>L->P at 345: in MPS4A, MIM: 253000</li><li>F->L at 346: in MPS4A; severe form, MIM: 253000</li><li>A->V at 351: in MPS4A; severe form, MIM: 253000</li><li>L->P at 352: in MPS4A, MIM: 253000</li><li>P->L at 357: in MPS4A, MIM: 253000</li><li>R->G at 361: in MPS4A, MIM: 253000</li><li>L->P at 369: in MPS4A, MIM: 253000</li><li>R->Q at 376: in MPS4A; severe form, MIM: 253000</li><li>R->S at 380: in MPS4A, MIM: 253000</li><li>R->T at 380: in MPS4A, MIM: 253000</li><li>R->C at 386: in MPS4A; severe form, MIM: 253000</li><li>R->H at 386: in MPS4A, MIM: 253000</li><li>D->N at 388: in MPS4A, MIM: 253000</li><li>M->V at 391: in MPS4A; severe form, MIM: 253000</li><li>A->V at 392: in MPS4A, MIM: 253000</li><li>A->S at 393: in dbSNP:rs2303269, MIM: 253000</li><li>L->P at 395: in MPS4A, MIM: 253000</li><li>L->V at 395: in MPS4A; severe form, MIM: 253000</li><li>H->D at 398: in MPS4A, MIM: 253000</li><li>H->Y at 401: in MPS4A, MIM: 253000</li><li>Missing  at 403-404: in MPS4A, MIM: 253000</li><li>N->H at 407: in MPS4A, MIM: 253000</li><li>W->S at 409: in MPS4A; associated with M-67 in a patient, MIM: 253000</li><li>E->V at 450: in MPS4A; severe form, MIM: 253000</li><li>F->I at 452: in MPS4A, MIM: 253000</li><li>A->V at 459, MIM: 253000</li><li>S->P at 470: in MPS4A, MIM: 253000</li><li>P->S at 484: in MPS4A, MIM: 253000</li><li>N->S at 487: in MPS4A, MIM: 253000</li><li>V->M at 488, MIM: 253000</li><li>M->V at 494: in MPS4A; severe form, MIM: 253000</li><li>P->T at 510: in a colorectal cancer sample; somatic mutation, MIM: 253000</li>								Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	<li>rs34745339</li><li>rs2303269</li><li>rs7187889</li><li>rs11862754</li>	2
P34096	6038		<li>T->S at 16: in dbSNP:rs3748338</li>									rs3748338	2
P34741	6383		<li>A->T at 59: in dbSNP:rs3816208</li><li>S->T at 71: in dbSNP:rs1042381</li>									<li>rs1042381</li><li>rs3816208</li>	2
P34810	968		<li>Q->K at 254: in dbSNP:rs25679</li><li>I->T at 329: in dbSNP:rs35452170</li><li>A->T at 340: in dbSNP:rs17607</li><li>A->T at 350: in dbSNP:rs9901675</li>									<li>rs35452170</li><li>rs17607</li><li>rs25679</li><li>rs9901675</li>	2
P34820	656		<li>H->R at 293: in dbSNP:rs6525</li>									rs6525	2
P34896	6470		<li>L->F at 474: in dbSNP:rs1979277</li>									rs1979277	2
P34925	6259		<li>N->S at 96</li><li>R->C at 224</li><li>V->I at 240: in an ovarian mucinous carcinoma sample; somatic mutation</li>										2
P34931	3305		<li>A->P at 8: in dbSNP:rs9469057</li><li>A->T at 268: in dbSNP rsrs34620296</li><li>D->G at 294: in dbSNP rsrs34360259</li><li>T->M at 479: in dbSNP:rs482145</li><li>T->M at 493: in dbSNP:rs2227956</li><li>E->A at 558: in dbSNP:rs2227955</li><li>E->K at 602: in dbSNP:rs2075800</li>									<li>rs34360259</li><li>rs2075800</li><li>rs482145</li><li>rs9469057</li><li>rs2227955</li><li>rs2227956</li><li>rs34620296</li>	2
P34947	2869		<li>Q->L at 41: in dbSNP:rs17098707</li><li>A->V at 119: in dbSNP rsrs55980792</li><li>G->S at 122: in dbSNP rsrs55902633</li><li>T->M at 129: in dbSNP:rs34679178</li><li>L->I at 141: in dbSNP rsrs56254855</li><li>D->E at 163: in a lung neuroendocrine carcinoma sample; somatic mutation</li><li>R->H at 304: in dbSNP rsrs2230349</li>									<li>rs55980792</li><li>rs55902633</li><li>rs56254855</li><li>rs34679178</li><li>rs2230349</li><li>rs17098707</li>	2
P34949	4351		<li>M->T at 51: in CDG1B, MIM: 602579</li><li>S->L at 102: in CDG1B, MIM: 602579</li><li>Y->C at 129: in CDG1B, MIM: 602579</li><li>D->N at 131: in CDG1B, MIM: 602579</li><li>M->T at 138: in CDG1B, MIM: 602579</li><li>I->T at 140: in CDG1B, MIM: 602579</li><li>R->Q at 152: in CDG1B, MIM: 602579</li><li>R->Q at 219: in CDG1B, MIM: 602579</li><li>G->S at 250: in CDG1B, MIM: 602579</li><li>Y->C at 255: in CDG1B, MIM: 602579</li><li>R->H at 295: in CDG1B; dbSNP:rs28928906, MIM: 602579</li><li>I->T at 398: in CDG1B, MIM: 602579</li><li>R->H at 418: in CDG1B, MIM: 602579</li>								Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]	rs28928906	2
P34969	3363		<li>T->K at 92</li><li>P->L at 279</li><li>P->Q at 448: in dbSNP:rs33954285</li>									rs33954285	2
P34972	1269	<ul><li>K->A at 109: No effect on agonist binding. Affects cannabinoid agonist binding; when associated with G-112</li><li>K->R at 109: No effect on agonist binding</li><li>S->G at 112: Affects cannabinoid agonist binding; when associated with A-109</li><li>D->A at 130: Loss of ligand binding. Alters agonist-induced inhibitory effect on adenylate cyclase</li><li>R->A at 131: No effect on ligand binding. Alters agonist-induced inhibitory effect on adenylate cyclase</li><li>L->P at 201: Abolishes ligand binding and agonist-induced inhibitory effect on adenylate cyclase</li><li>Y->A at 207: Abolishes agonist-induced inhibitory effect on adenylate cyclase. No effect on ligand binding</li><li>A->E at 244: Loss of ligand binding. Alters agonist-induced inhibitory effect on adenylate cyclase</li></ul>	<li>Q->R at 63: associated with depresssion in Japanese population; dbSNP:rs2501432</li><li>H->Y at 316: in dbSNP:rs2229579</li>			binding	GO:0005488			<li>P00936</li><li>P23466</li><li>P30528</li><li>Q59685</li><li>Q9WXC3</li><li>P0A1A7</li><li>Q05766</li><li>P0A1A8</li><li>P40134</li><li>P40135</li><li>P40130</li><li>P14605</li><li>Q59119</li><li>P43524</li><li>P27580</li><li>P08678</li><li>P40127</li><li>Q8XAP1</li><li>Q8FBP0</li><li>P0A4Y1</li><li>P0A4Y0</li><li>Q01513</li><li>P59739</li><li>P49606</li><li>Q01631</li>		<li>rs2229579</li><li>rs2501432</li>	3
P34981	7201		<li>N->K at 10: in dbSNP:rs5774</li><li>I->M at 168: in dbSNP:rs13306060</li>									<li>rs5774</li><li>rs13306060</li>	2
P34982			<li>R->Q at 25: in dbSNP:rs769423</li>									rs769423	2
P34995	5731		<li>A->T at 71: in dbSNP:rs1057362</li><li>T->M at 223: in dbSNP:rs28364042</li><li>H->R at 256: in dbSNP:rs7249305</li>									<li>rs28364042</li><li>rs1057362</li><li>rs7249305</li>	2
P35030			<li>T->A at 188: in dbSNP:rs855581</li><li>Y->C at 232: in dbSNP:rs1048379</li>									<li>rs855581</li><li>rs1048379</li>	2
P35052	2817		<li>A->D at 337: in a breast cancer sample; somatic mutation</li><li>G->S at 500: in dbSNP:rs2228331</li>									rs2228331	2
P35070	685		<li>C->G at 7: in dbSNP:rs28549760</li><li>L->M at 124: in dbSNP:rs11938093</li>									<li>rs11938093</li><li>rs28549760</li>	2
P35212	2701		<li>P->S at 71</li><li>A->V at 128</li><li>V->I at 130: in dbSNP rsrs41266431</li><li>P->S at 319: in allele CX37*2; dbSNP:rs1764391</li>									<li>rs41266431</li><li>rs1764391</li>	2
P35221	1495		<li>A->V at 179: in dbSNP rsrs28363394</li><li>P->S at 219: in dbSNP:rs28363406</li>									<li>rs28363406</li><li>rs28363394</li>	2
P35225			<li>R->Q at 130: in dbSNP:rs20541</li>									rs20541	2
P35226	648		<li>C->Y at 18: in dbSNP:rs1042059</li>									rs1042059	2
P35228	4843		<li>R->W at 221: in dbSNP:rs3730017</li><li>S->L at 608: in dbSNP:rs2297518</li><li>A->S at 679: in a breast cancer sample; somatic mutation</li><li>T->A at 747: in dbSNP:rs28944173</li><li>R->C at 1009: in dbSNP:rs28944201</li>									<li>rs28944173</li><li>rs28944201</li><li>rs2297518</li><li>rs3730017</li>	2
P35232	5245		<li>V->A at 88: in breast cancer</li><li>R->H at 105: in breast cancer</li>										2
P35237	5269		<li>M->V at 90: in dbSNP:rs2295769</li><li>G->S at 153: in dbSNP:rs2295766</li>									<li>rs2295766</li><li>rs2295769</li>	2
P35241	5962		<li>K->E at 328: in dbSNP:rs17854427</li><li>D->N at 490: in dbSNP:rs34471100</li><li>D->N at 578: in DFNB24, MIM: 611022</li>								Non-syndromic sensorineural deafness autosomal recessive type 24 (DFNB24) [MIM:611022]	<li>rs34471100</li><li>rs17854427</li>	2
P35247	6441		<li>M->T at 31: in dbSNP rsrs721917</li><li>L->V at 123: in dbSNP rsrs17878336</li><li>A->T at 180: in dbSNP:rs2243639</li><li>S->T at 290: in dbSNP rsrs3088308</li><li>E->K at 309: in dbSNP rsrs4469829</li>									<li>rs3088308</li><li>rs2243639</li><li>rs721917</li><li>rs17878336</li><li>rs4469829</li>	2
P35249	5984		<li>V->A at 292: in dbSNP:rs2066497</li><li>T->S at 354: in a breast cancer sample; somatic mutation</li>									rs2066497	2
P35250	5982		<li>A->V at 232: in dbSNP:rs3135684</li>									rs3135684	2
P35251	5981		<li>I->V at 598: in dbSNP:rs2066791</li><li>R->L at 613: in dbSNP:rs1057747</li><li>E->D at 692</li><li>Q->K at 955</li><li>S->L at 1146</li>									<li>rs2066791</li><li>rs1057747</li>	2
P35318	133		<li>S->R at 50: in dbSNP:rs5005</li><li>P->R at 85: in dbSNP:rs2228573</li>									<li>rs5005</li><li>rs2228573</li>	2
P35321	6698		<li>H->Q at 42: in dbSNP:rs1611762</li><li>V->I at 61: in dbSNP:rs1611764</li>									<li>rs1611762</li><li>rs1611764</li>	2
P35325	6701		<li>P->S at 39: in dbSNP:rs1048268</li>									rs1048268	2
P35346	6755		<li>G->R at 37: in dbSNP:rs4988482</li><li>L->M at 48: in dbSNP:rs4988483</li><li>A->V at 52: in dbSNP:rs4988484</li><li>W->R at 105: in dbSNP:rs34803074</li><li>P->S at 109: in dbSNP:rs4988487</li><li>R->C at 234: in dbSNP:rs34070276</li><li>L->S at 251: in dbSNP:rs34474910</li><li>V->I at 267: in dbSNP:rs35125411</li><li>T->M at 333: in dbSNP:rs12596873</li><li>P->L at 335: in dbSNP:rs169068</li><li>R->K at 339: in dbSNP:rs35072648</li><li>G->R at 357: in dbSNP:rs34947461</li>									<li>rs34947461</li><li>rs34474910</li><li>rs4988487</li><li>rs34803074</li><li>rs4988484</li><li>rs35072648</li><li>rs4988482</li><li>rs4988483</li><li>rs35125411</li><li>rs169068</li><li>rs34070276</li><li>rs12596873</li>	2
P35348	148		<li>G->W at 40: in a breast cancer sample; somatic mutation</li><li>I->S at 200: in dbSNP:rs2229125</li><li>C->R at 347: frequent polymorphism; dbSNP:rs1048101</li><li>K->R at 414: in dbSNP:rs3730247</li><li>E->D at 465: in dbSNP:rs2229126</li>									<li>rs2229126</li><li>rs2229125</li><li>rs3730247</li><li>rs1048101</li>	2
P35354	5743		<li>R->H at 228: in dbSNP:rs3218622</li><li>P->A at 428: in dbSNP:rs4648279</li><li>E->G at 488: in dbSNP:rs5272</li><li>V->A at 511: in dbSNP:rs5273</li><li>G->R at 587: in dbSNP:rs3218625</li>									<li>rs3218625</li><li>rs5272</li><li>rs5273</li><li>rs4648279</li><li>rs3218622</li>	2
P35367	3269		<li>K->N at 19: in dbSNP:rs2067466</li><li>G->E at 270: in dbSNP:rs7651620</li><li>D->E at 385: in a colorectal cancer sample; somatic mutation</li>									<li>rs2067466</li><li>rs7651620</li>	2
P35368	147		<li>V->G at 51: in dbSNP:rs8192448</li>									rs8192448	2
P35372	4988		<li>A->V at 6: in dbSNP:rs1799972</li><li>N->D at 40: in 10% of the population; dbSNP:rs1799971</li><li>G->V at 63: in dbSNP:rs9282817</li><li>S->F at 66: in dbSNP:rs9282819</li><li>S->C at 147: rare polymorphism; dbSNP:rs17174794</li><li>N->D at 152: in dbSNP rsrs17174801</li><li>R->H at 260: rare polymorphism; dbSNP:rs1799974</li><li>R->C at 265: in dbSNP rsrs17174822</li><li>D->N at 274: in dbSNP rsrs17174829</li>									<li>rs17174829</li><li>rs17174822</li><li>rs9282819</li><li>rs9282817</li><li>rs1799974</li><li>rs17174801</li><li>rs17174794</li><li>rs1799971</li><li>rs1799972</li>	2
P35398	6095		<li>P->S at 18: in a colorectal cancer sample; somatic mutation</li>										2
P35410	116511		<li>D->E at 288: in dbSNP:rs17184100</li>									rs17184100	2
P35414	187		<li>V->I at 300: in dbSNP:rs7943508</li>									rs7943508	2
P35442	7058		<li>T->S at 133: in dbSNP:rs36088849</li><li>L->F at 375: in dbSNP:rs35404985</li>									<li>rs36088849</li><li>rs35404985</li>	2
P35443	7060		<li>L->Q at 55: in dbSNP:rs17881847</li><li>A->P at 387: in dbSNP:rs1866389</li><li>A->V at 420: in dbSNP:rs17882372</li><li>V->I at 646: in dbSNP:rs2229396</li><li>V->I at 737: in dbSNP:rs2229398</li>									<li>rs17881847</li><li>rs1866389</li><li>rs2229398</li><li>rs17882372</li><li>rs2229396</li>	2
P35453	3239		<li>Missing  at 57-63: in BDSD; does not affect capacity to transactivate EPHA7 promoter</li><li>Missing at 57-58</li><li>A->AAAAAAAAAA at 57: in SPD and in syndactyly type 5</li><li>S->A at 252: in dbSNP:rs35290213</li><li>R->W at 306: in SPD; dbSNP:rs28933082, MIM: 186000</li><li>S->C at 316: in BDE and BDD; dbSNP:rs28928892, MIM: 113300</li><li>I->L at 322: in BDE; dbSNP:rs28928891, MIM: 113300</li><li>Q->R at 325: in syndactyly type 5; impairs capacity to transactivate EPHA7 promoter, MIM: 186300</li>							<li>O42422</li><li>Q15375</li>	<li>Brachydactyly type D (BDD) [MIM:113200]</li><li>Syndactyly type 5 [MIM:186300]</li><li>Synpolydactyly (SPD) [MIM:186000]</li><li>Brachydactyly type E (BDE) [MIM:113300]</li>	<li>rs28928891</li><li>rs28928892</li><li>rs28933082</li><li>rs35290213</li>	2
P35462	1814		<li>S->G at 9: associated with susceptibility to ETM1; gain of function; dbSNP:rs6280</li>									rs6280	2
P35475	3425		<li>Missing  at 16-19: in MPS1H</li><li>H->Q at 33: in dbSNP:rs10794537</li><li>G->D at 51: in MPS1H, MIM: 607014</li><li>A->T at 75: in MPS1H, MIM: 607014</li><li>A->V at 79: in MPS1H/S; reduction of activity and protein levels, MIM: 607015</li><li>H->P at 82: in MPS1H/S, MIM: 607015</li><li>H->Q at 82: reduction of protein levels, MIM: 607015</li><li>R->Q at 89: in MPS1S; in Japanese 21% of alleles, MIM: 607016</li><li>R->W at 89: in MPS1S, MIM: 607016</li><li>R->Q at 105: in dbSNP:rs3755955, MIM: 607016</li><li>G->R at 116, MIM: 607016</li><li>M->I at 133: in MPS1H, MIM: 607014</li><li>E->K at 182: in MPS1H, MIM: 607014</li><li>G->D at 208: in MPS1H, MIM: 607014</li><li>L->P at 218: in MPS1H, MIM: 607014</li><li>L->Q at 238: in MPS1H/S, MIM: 607015</li><li>S->F at 260: in MPS1H/S, MIM: 607015</li><li>V->A at 279, MIM: 607015</li><li>A->T at 300: in IDUA pseudodeficiency, MIM: 607015</li><li>D->Y at 315: in MPS1, MIM: 607015</li><li>A->P at 327: in MPS1H and MPS1H/S, MIM: 607015</li><li>L->R at 346: in MPS1H/S; 0.4% of normal activity, MIM: 607015</li><li>Missing  at 349-350: in MPS1H, MIM: 607015</li><li>D->N at 349: in MPS1H, MIM: 607014</li><li>D->Y at 349: in MPS1H, MIM: 607014</li><li>N->I at 350: in MPS1S, MIM: 607016</li><li>A->T at 361: in dbSNP:rs6831280, MIM: 607016</li><li>R->C at 363: in MPS1H/S; loss of activity, MIM: 607015</li><li>T->P at 366: in MPS1H, MIM: 607014</li><li>Q->R at 380: in MPS1H/S, MIM: 607015</li><li>R->H at 383: in MPS1S; 2-3% of normal activity, MIM: 607016</li><li>T->R at 388: in MPS1H, MIM: 607014</li><li>L->LALL at 396: in MPS1H, MIM: 607014</li><li>G->R at 409: in MPS1H; dbSNP:rs11934801, MIM: 607014</li><li>S->R at 423: in MPS1S; significant reduction of activity and protein levels, MIM: 607016</li><li>Missing  at 445: in MPS1S, MIM: 607016</li><li>V->I at 454, MIM: 607016</li><li>R->P at 489: in MPS1H; dbSNP:rs4690226, MIM: 607014</li><li>L->P at 490: in MPS1H/S, MIM: 607015</li><li>R->P at 492: in MPS1S, MIM: 607016</li><li>P->L at 496: in MPS1H/S, MIM: 607015</li><li>M->T at 504: in MPS1H/S, MIM: 607015</li><li>P->R at 533: in MPS1H and MPS1H/S; in 3% of the MPS1H patients, MIM: 607015</li><li>F->I at 602: in MPS1H/S; reduction of activity and protein levels, MIM: 607015</li><li>R->G at 619: in MPS1H/S; 1.5% of normal activity, MIM: 607015</li><li>W->R at 626: in MPS1H/S, MIM: 607015</li><li>R->P at 628: in MPS1H/S, MIM: 607015</li>							<li>Q01634</li><li>P54199</li><li>P35475</li><li>P42677</li>	<li>Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016]</li><li>Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]</li><li>Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]</li>	<li>rs6831280</li><li>rs11934801</li><li>rs3755955</li><li>rs10794537</li>	2
P35498	6323		<li>E->D at 78: in SMEI, MIM: 607208</li><li>Y->C at 84, MIM: 607208</li><li>R->Q at 101: in SMEI, MIM: 607208</li><li>S->G at 103: in SMEI, MIM: 607208</li><li>T->I at 112: in SMEI, MIM: 607208</li><li>R->S at 118: in SMEI, MIM: 607208</li><li>M->T at 145: in FEB3; loss of function, MIM: 604403</li><li>G->E at 177: in SMEI, MIM: 607208</li><li>D->V at 188: in GEFS+2, MIM: 604233</li><li>W->R at 190: in SMEI, MIM: 607208</li><li>T->M at 226: in a patient with cryptogenic generalized epilepsy, MIM: 607208</li><li>I->S at 227: in SMEI, MIM: 607208</li><li>A->T at 239: in SMEI, MIM: 607208</li><li>I->N at 252: in SMEI, MIM: 607208</li><li>G->W at 265: in SMEI, MIM: 607208</li><li>W->R at 280: in SMEI, MIM: 607208</li><li>T->I at 297: in SMEI, MIM: 607208</li><li>G->E at 343: in SMEI, MIM: 607208</li><li>D->E at 366: in SMEI, MIM: 607208</li><li>R->Q at 377: in GEFS+2, MIM: 604233</li><li>R->C at 393: in a patient with myoclonic astatic epilepsy, MIM: 604233</li><li>R->H at 393: in SMEI, MIM: 607208</li><li>A->P at 395: in a patient with cryptogenic generalized epilepsy, MIM: 607208</li><li>V->E at 422: in a patient with cryptogenic generalized epilepsy, MIM: 607208</li><li>Y->N at 426: in SMEI, MIM: 607208</li><li>R->Q at 542: associated with autism, MIM: 607208</li><li>S->G at 626: in a patient with cryptogenic generalized epilepsy, MIM: 607208</li><li>Y->C at 790: in GEFS+2, MIM: 604233</li><li>T->S at 808: in SMEI, MIM: 607208</li><li>T->M at 875: in GEFS+2, MIM: 604233</li><li>F->C at 902: in SMEI, MIM: 607208</li><li>R->C at 931: in SMEI, MIM: 607208</li><li>M->I at 934: in SMEI, MIM: 607208</li><li>H->Q at 939: in SMEI, MIM: 607208</li><li>V->A at 944: in SMEI, MIM: 607208</li><li>R->C at 946: in SMEI, MIM: 607208</li><li>R->H at 946: in SMEI, MIM: 607208</li><li>C->R at 959: in SMEI, MIM: 607208</li><li>M->V at 960: in SMEI, MIM: 607208</li><li>M->V at 973: in a patient with cryptogenic generalized epilepsy, MIM: 607208</li><li>G->R at 979: in SMEI, MIM: 607208</li><li>V->A at 983: in SMEI, MIM: 607208</li><li>N->I at 985: in SMEI, MIM: 607208</li><li>L->F at 986: in SMEI; complete loss of function, MIM: 607208</li><li>N->I at 1011: in SMEI, MIM: 607208</li><li>I->T at 1034: associated with autism, MIM: 607208</li><li>F->L at 1038: associated with autism, MIM: 607208</li><li>A->T at 1067: in dbSNP:rs2298771, MIM: 607208</li><li>W->R at 1204: in GEFS+2, MIM: 604233</li><li>L->P at 1207: in SMEI, MIM: 607208</li><li>S->R at 1231: in SMEI, MIM: 607208</li><li>G->R at 1233: in SMEI, MIM: 607208</li><li>E->D at 1238: in SMEI, MIM: 607208</li><li>F->L at 1263: in SMEI, MIM: 607208</li><li>L->P at 1265: in SMEI, MIM: 607208</li><li>K->T at 1270: in GEFS+2, MIM: 604233</li><li>Missing  at 1289: in SMEI, MIM: 604233</li><li>V->M at 1335: in SMEI, MIM: 607208</li><li>V->L at 1353: in GEFS+2; complete loss of function, MIM: 604233</li><li>L->P at 1355: in SMEI, MIM: 607208</li><li>W->S at 1358: in SMEI, MIM: 607208</li><li>S->P at 1362: in SMEI, MIM: 607208</li><li>V->I at 1366: in GEFS+2 and ICEGTC, MIM: 607208</li><li>V->M at 1390: in SMEI, MIM: 607208</li><li>V->A at 1428: in GEFS+2, MIM: 604233</li><li>W->R at 1434: in SMEI, MIM: 607208</li><li>Q->R at 1450: in SMEI, MIM: 607208</li><li>L->I at 1461: in SMEI, MIM: 607208</li><li>Y->C at 1462: in SMEI, MIM: 607208</li><li>F->S at 1463: in SMEI, MIM: 607208</li><li>G->V at 1480: in a patient with myoclonic astatic epilepsy, MIM: 607208</li><li>Q->K at 1489: in FHM3, MIM: 609634</li><li>F->S at 1543: in a patient with cryptogenic focal epilepsy, MIM: 609634</li><li>Missing  at 1559: in SMEI, MIM: 609634</li><li>R->C at 1596: in a patient with cryptogenic focal epilepsy, MIM: 609634</li><li>V->F at 1611: in SMEI, MIM: 607208</li><li>P->S at 1632: in SMEI, MIM: 607208</li><li>R->Q at 1636: in a patient with Lennon-Gastaut syndrome, MIM: 607208</li><li>R->C at 1648: in SMEI, MIM: 607208</li><li>R->H at 1648: in GEFS+2, MIM: 604233</li><li>I->M at 1656: in GEFS+2; exhibits a depolarizing shift in the voltage dependence of activation, MIM: 604233</li><li>R->C at 1657: in GEFS+2; exhibits a depolarizing shift in the voltage dependence of activation; shows a 50% reduction in current density and accelerates recovery from slow inactivation, MIM: 604233</li><li>R->H at 1657: in a patient with cryptogenic focal epilepsy, MIM: 604233</li><li>F->S at 1661: in SMEI, MIM: 607208</li><li>P->A at 1668: in SMEI, MIM: 607208</li><li>G->R at 1674: in SMEI, MIM: 607208</li><li>Y->C at 1684: in SMEI, MIM: 607208</li><li>A->D at 1685: in SMEI, MIM: 607208</li><li>A->V at 1685: in GEFS+2; complete loss of function, MIM: 604233</li><li>F->S at 1692: in SMEI, MIM: 607208</li><li>T->I at 1709: in SMEI, MIM: 607208</li><li>G->E at 1749: in SMEI, MIM: 607208</li><li>Missing  at 1766: in SMEI, MIM: 607208</li><li>M->T at 1780: in SMEI, MIM: 607208</li><li>Y->C at 1781: in SMEI, MIM: 607208</li><li>Missing  at 1807-1810: in SMEI, MIM: 607208</li><li>F->L at 1808: in SMEI, MIM: 607208</li><li>WEKF->C at 1812-1815: in SMEI, MIM: 607208</li><li>W->G at 1812: in SMEI, MIM: 607208</li><li>F->S at 1831: in SMEI, MIM: 607208</li><li>M->T at 1852: in GEFS+2, MIM: 604233</li><li>E->D at 1881: in SMEI, MIM: 607208</li><li>T->I at 1909: in SMEI, MIM: 607208</li><li>R->G at 1928: in SMEI, MIM: 607208</li><li>I->T at 1955: associated with autism, MIM: 607208</li><li>E->G at 1957: in infantile spasms, MIM: 607208</li>								<li>Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]</li><li>Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604233]</li><li>Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]</li><li>Familial hemiplegic migraine 3 (FHM3) [MIM:609634]</li><li>Familial febrile convulsions type 3 (FEB3) [MIM:604403]</li>	rs2298771	2
P35499	6329		<li>M->V at 135</li><li>I->V at 141: in MYOSCN4A; causes a hyperpolarizing shift of the activation curve; enhances channel slow inactivation, MIM: 608390</li><li>R->W at 222: in HOKPP, MIM: 170400</li><li>S->L at 246, MIM: 170400</li><li>Q->K at 270: in PMC, MIM: 168300</li><li>V->M at 445: in MYOSCN4A, MIM: 608390</li><li>E->K at 452: in MYOSCN4A; variable phenotype ranging from mild to severe myotonia, MIM: 608390</li><li>G->S at 524: in dbSNP rsrs6504191, MIM: 608390</li><li>N->D at 559: in dbSNP:rs1047705, MIM: 608390</li><li>R->H at 669: in HOKPP, MIM: 170400</li><li>F->S at 671: in MYOSCN4A, MIM: 608390</li><li>R->C at 672: in HOKPP, MIM: 170400</li><li>R->G at 672: in HOKPP, MIM: 170400</li><li>R->H at 672: in HOKPP, MIM: 170400</li><li>R->S at 672: in HOKPP, MIM: 170400</li><li>R->G at 675: in NKPP, MIM: 170500</li><li>R->Q at 675: in NKPP, MIM: 170500</li><li>R->W at 675: in NKPP, MIM: 170500</li><li>T->M at 704: in HYPP and PMC, MIM: 170500</li><li>A->T at 715: in MYOSCN4A, MIM: 608390</li><li>V->I at 781: in HYPP and NKPP, MIM: 170500</li><li>S->F at 804: in PMC, MIM: 168300</li><li>S->N at 804: in MYOSCN4A, MIM: 608390</li><li>A->D at 861, MIM: 608390</li><li>R->Q at 1132: in HOKPP, MIM: 170400</li><li>R->H at 1135: in HOKPP, MIM: 170400</li><li>A->D at 1152: in PMC, MIM: 168300</li><li>A->T at 1156: in PMC and HYPP, MIM: 170500</li><li>P->S at 1158: in HOKPP, MIM: 170400</li><li>I->V at 1160: in MYOSCN4A; acetazolamide-responsive myotonia, MIM: 608390</li><li>V->I at 1293: in PMC; without cold paralysis, MIM: 168300</li><li>N->K at 1297: in MYOSCN4A; unusually severe and lethal phenotype with neonatal onset, MIM: 608390</li><li>G->A at 1306: in PMC, MIM: 168300</li><li>G->E at 1306: in MYOSCN4A and PMC; severe, MIM: 168300</li><li>G->V at 1306: in MYOSCN4A and PMC, MIM: 168300</li><li>I->N at 1310: in MYOSCN4A, MIM: 608390</li><li>T->M at 1313: in PMC, MIM: 168300</li><li>D->N at 1376: in dbSNP:rs2058194, MIM: 168300</li><li>L->R at 1433: in PMC and HYPP, MIM: 170500</li><li>L->P at 1436: in PMC, MIM: 168300</li><li>V->E at 1442: in CMSSCNA4, MIM: 603967</li><li>R->C at 1448: in PMC, MIM: 168300</li><li>R->H at 1448: in PMC, MIM: 168300</li><li>R->L at 1448: in PMC, MIM: 168300</li><li>G->E at 1456: in PMC, MIM: 168300</li><li>F->S at 1473: in PMC; accelerates deactivation from the inactivated state and enhances the remobilization of gating charge, MIM: 168300</li><li>M->I at 1476: in MYOSCN4A; highly variable severity, MIM: 608390</li><li>A->D at 1481: in MYOSCN4A; fluctuating cold-induced and exercise-induced stiffness, MIM: 608390</li><li>V->M at 1589: in PMC, MIM: 168300</li><li>M->V at 1592: in HYPP and NKPP, MIM: 170500</li><li>F->I at 1705: in PMC; increases the extent of charge immobilization in response to strong depolarization, MIM: 168300</li>								<li>Periodic paralysis hyperkalemic (HYPP) [MIM:170500]</li><li>Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]</li><li>Periodic paralysis hypokalemic (HOKPP) [MIM:170400]</li><li>Periodic paralysis normokalemic (NKPP) [MIM:170500]</li><li>A congenital myasthenic syndrome due to mutation in SCNA4 (CMSSCNA4) [MIM:603967]</li><li>Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]</li>	<li>rs2058194</li><li>rs6504191</li><li>rs1047705</li>	2
P35503	54659		<li>Q->R at 6: in dbSNP:rs28898617</li><li>W->R at 11: in dbSNP:rs3821242</li><li>R->W at 45: in dbSNP:rs45625338</li><li>V->A at 47: in dbSNP:rs6431625</li><li>R->W at 49: in dbSNP:rs45595237</li><li>T->I at 78: in dbSNP:rs28898618</li><li>M->I at 114: in dbSNP:rs28898619</li><li>T->I at 144: in dbSNP:rs13406898</li><li>M->V at 270: in dbSNP:rs45449995</li>									<li>rs45449995</li><li>rs3821242</li><li>rs6431625</li><li>rs45595237</li><li>rs13406898</li><li>rs45625338</li><li>rs28898619</li><li>rs28898617</li><li>rs28898618</li>	2
P35504	54579		<li>L->S at 48: in dbSNP:rs3755323</li><li>L->P at 63: in dbSNP:rs3755321</li><li>T->S at 144: in dbSNP:rs28946885</li><li>A->G at 158: in dbSNP:rs12475068</li><li>H->Y at 225: in dbSNP:rs17862867</li><li>V->L at 249: in dbSNP:rs17862868</li><li>G->R at 259: in dbSNP:rs3892170</li>									<li>rs17862867</li><li>rs3755323</li><li>rs17862868</li><li>rs3755321</li><li>rs28946885</li><li>rs12475068</li><li>rs3892170</li>	2
P35523	1180		<li>R->C at 105: in MCR, MIM: 255700</li><li>W->G at 118: in dbSNP:rs10282312, MIM: 255700</li><li>D->G at 136: in MCR, MIM: 255700</li><li>Y->C at 150: in MCR, MIM: 255700</li><li>F->V at 161: in MCD and MCR, MIM: 255700</li><li>V->G at 165: in MCR, MIM: 255700</li><li>F->L at 167: in MCR, MIM: 255700</li><li>G->R at 200: in MCD and MCR, MIM: 255700</li><li>G->E at 230: in MCD and MCR, MIM: 255700</li><li>V->L at 236: in MCR, MIM: 255700</li><li>Y->C at 261: in MCR, MIM: 255700</li><li>G->E at 285: in MCR, MIM: 255700</li><li>V->A at 286: in MCD, MIM: 160800</li><li>I->M at 290: in MCD, MIM: 160800</li><li>E->K at 291: in MCR, MIM: 255700</li><li>R->Q at 300, MIM: 255700</li><li>F->S at 307: in MCD, MIM: 160800</li><li>A->T at 313: in MCD and MCR, MIM: 255700</li><li>R->Q at 317: in MCD, MIM: 160800</li><li>V->I at 327: in MCR, MIM: 255700</li><li>I->T at 329: in MCR, MIM: 255700</li><li>R->Q at 338: in MCD and MCR, MIM: 255700</li><li>F->C at 413: in MCR, MIM: 255700</li><li>A->V at 415: in MCR, MIM: 255700</li><li>A->T at 437: in dbSNP:rs41276054, MIM: 255700</li><li>P->L at 480: in MCD, MIM: 160800</li><li>G->R at 482: in MCR, MIM: 255700</li><li>M->V at 485: in MCR, MIM: 255700</li><li>R->S at 496: in MCR, MIM: 255700</li><li>E->K at 548: in a breast cancer sample; somatic mutation, MIM: 255700</li><li>Q->R at 552: in MCD, MCR and in myotonia levior, MIM: 255700</li><li>I->N at 556: in MCD and MCR; mild form, MIM: 255700</li><li>V->I at 563: in MCR, MIM: 255700</li><li>F->L at 708: in MCR, MIM: 255700</li><li>P->L at 727: in dbSNP:rs13438232, MIM: 255700</li>							<li>Q99J39</li><li>Q3YC04</li><li>P08235</li><li>P01549</li><li>O95822</li><li>Q920F5</li><li>P12617</li>	<li>Autosomal recessive myotonia congenita (MCR) [MIM:255700]</li><li>Autosomal dominant myotonia congenita (MCD) [MIM:160800]</li>	<li>rs10282312</li><li>rs13438232</li><li>rs41276054</li>	2
P35542	6291		<li>Y->C at 89: in dbSNP:rs2460827</li>									rs2460827	2
P35544			<li>T->I at 53</li>										2
P35555	2200		<li>Y->C at 20: in MFS, MIM: 154700</li><li>A->T at 27: in dbSNP:rs25397, MIM: 154700</li><li>R->C at 62: in MFS; also in a patient with ectopia lentis and retinal detachment: in dbSNP rsrs25403, MIM: 154700</li><li>C->F at 89: in MFS, MIM: 154700</li><li>C->R at 111: in MFS, MIM: 154700</li><li>R->C at 114: in MFS, MIM: 154700</li><li>S->C at 115: in EL, MIM: 129600</li><li>R->C at 122: in MFS, MIM: 154700</li><li>C->Y at 123: in MFS, MIM: 154700</li><li>C->Y at 129: in MFS; severe neonatal, MIM: 154700</li><li>C->S at 154: in MFS, MIM: 154700</li><li>C->F at 166: in MFS, MIM: 154700</li><li>C->S at 166: in MFS, MIM: 154700</li><li>C->R at 177: in MFS: in dbSNP rsrs363853, MIM: 154700</li><li>W->G at 217: in MFS, MIM: 154700</li><li>C->R at 224: in MFS, MIM: 154700</li><li>R->C at 240: in MFS and EL, MIM: 154700</li><li>W->C at 366: in MFS, MIM: 154700</li><li>R->G at 439: in MFS, MIM: 154700</li><li>C->G at 476: in MFS, MIM: 154700</li><li>D->Y at 490: in MFS, MIM: 154700</li><li>C->F at 504: in MFS, MIM: 154700</li><li>Missing  at 507: in MFS, MIM: 154700</li><li>C->Y at 541: in MFS, MIM: 154700</li><li>R->C at 545: in MFS, MIM: 154700</li><li>N->I at 548: in MFS, MIM: 154700</li><li>G->S at 560: in MFS, MIM: 154700</li><li>C->Y at 570: in MFS, MIM: 154700</li><li>C->Y at 587: in MFS, MIM: 154700</li><li>G->D at 592: in MFS, MIM: 154700</li><li>C->Y at 596: in MFS, MIM: 154700</li><li>C->W at 598: in MFS, MIM: 154700</li><li>R->C at 627: in MFS; enhances proteolytic degradation, MIM: 154700</li><li>C->K at 628: in MFS; requires 2 nucleotide substitutions, MIM: 154700</li><li>Missing  at 629-633: in MFS, MIM: 154700</li><li>Y->C at 635: in MFS, MIM: 154700</li><li>R->I at 636: in MFS, MIM: 154700</li><li>C->S at 652: in MFS, MIM: 154700</li><li>D->N at 654: in MFS, MIM: 154700</li><li>C->R at 661: in MFS, MIM: 154700</li><li>C->Y at 661: in EL; patient presenting also mitral valve prolapse, MIM: 129600</li><li>S->Y at 681: in MFS, MIM: 154700</li><li>C->R at 683: in MFS, MIM: 154700</li><li>C->W at 685: in MFS, MIM: 154700</li><li>A->T at 705: in MFS, MIM: 154700</li><li>C->Y at 711: in MFS, MIM: 154700</li><li>D->A at 723: in MFS, MIM: 154700</li><li>D->V at 723: in MFS, MIM: 154700</li><li>C->F at 734: in MFS, MIM: 154700</li><li>Y->C at 746: in MFS, MIM: 154700</li><li>C->Y at 748: in MFS, MIM: 154700</li><li>C->G at 750: in MFS; enhances proteolytic degradation, MIM: 154700</li><li>C->G at 776: in MFS, MIM: 154700</li><li>C->Y at 776: in MFS, MIM: 154700</li><li>C->R at 781: in MFS, MIM: 154700</li><li>C->Y at 781: in MFS, MIM: 154700</li><li>C->S at 816: in MFS, MIM: 154700</li><li>C->Y at 832: in MFS, MIM: 154700</li><li>C->R at 862: in MFS, MIM: 154700</li><li>C->G at 890: in MFS, MIM: 154700</li><li>C->R at 890: in MFS, MIM: 154700</li><li>C->R at 908: in MFS, MIM: 154700</li><li>E->G at 913: in MFS, MIM: 154700</li><li>C->G at 921: in MFS, MIM: 154700</li><li>C->R at 926: in MFS; enhances proteolytic degradation, MIM: 154700</li><li>V->I at 984: in MFS, MIM: 154700</li><li>G->E at 985: in MFS; atypical, MIM: 154700</li><li>G->R at 985: in MFS, MIM: 154700</li><li>C->R at 996: in MFS: in dbSNP rsrs140592, MIM: 154700</li><li>G->R at 1013: in MFS; severe neonatal: in dbSNP rsrs140593, MIM: 154700</li><li>K->N at 1023: in MFS; severe neonatal, MIM: 154700</li><li>K->R at 1043: in MFS, MIM: 154700</li><li>C->Y at 1044: in MFS, MIM: 154700</li><li>I->T at 1048: in MFS, MIM: 154700</li><li>Missing  at 1048: in MFS, MIM: 154700</li><li>C->R at 1053: in MFS, MIM: 154700</li><li>C->G at 1055: in MFS; neonatal, MIM: 154700</li><li>C->W at 1055: in MFS, MIM: 154700</li><li>C->Y at 1055: in MFS, MIM: 154700</li><li>G->D at 1058: in MFS, MIM: 154700</li><li>G->GC at 1058: in MFS, MIM: 154700</li><li>D->G at 1072: in MFS, MIM: 154700</li><li>E->K at 1073: in MFS; severe neonatal, MIM: 154700</li><li>C->R at 1074: in MFS; severe neonatal, MIM: 154700</li><li>C->W at 1086: in MFS, MIM: 154700</li><li>Y->C at 1101: in MFS, MIM: 154700</li><li>D->V at 1113: in MFS, MIM: 154700</li><li>C->G at 1117: in MFS, MIM: 154700</li><li>C->Y at 1117: in MFS, MIM: 154700</li><li>G->S at 1127: in a mild form of inherited weakness of elastic tissue that predisposes to ascending aortic aneurysm and dissection later in life, MIM: 154700</li><li>V->I at 1128: in a patient with mitral valve prolapse, MIM: 154700</li><li>C->Y at 1129: in MFS, MIM: 154700</li><li>N->Y at 1131: in MFS, MIM: 154700</li><li>R->P at 1137: in MFS, MIM: 154700</li><li>P->A at 1148: in dbSNP:rs140598, MIM: 154700</li><li>C->S at 1153: in MFS, MIM: 154700</li><li>C->Y at 1153: in MFS; severe: in dbSNP rsrs140599, MIM: 154700</li><li>D->N at 1155: in MFS, MIM: 154700</li><li>R->H at 1170: in MFS; mild, MIM: 154700</li><li>C->W at 1171: in MFS, MIM: 154700</li><li>N->K at 1173: in MFS, MIM: 154700</li><li>E->G at 1200: in MFS, MIM: 154700</li><li>Missing  at 1211: in MFS, MIM: 154700</li><li>Y->C at 1219: in MFS, MIM: 154700</li><li>C->Y at 1223: in MFS and SGS, MIM: 182212</li><li>C->Y at 1242: in MFS, MIM: 154700</li><li>C->S at 1249: in MFS, MIM: 154700</li><li>Y->C at 1261: in MFS, MIM: 154700</li><li>Y->D at 1261: in MFS, MIM: 154700</li><li>C->R at 1265: in MFS; subdiagnostic variant of MFS, MIM: 154700</li><li>C->S at 1278: in MFS, MIM: 154700</li><li>C->G at 1284: in MFS, MIM: 154700</li><li>E->Q at 1325: in MFS, MIM: 154700</li><li>C->S at 1333: in MFS, MIM: 154700</li><li>A->P at 1337: in MFS; neonatal, MIM: 154700</li><li>C->Y at 1339: in MFS, MIM: 154700</li><li>E->K at 1366: in MFS, MIM: 154700</li><li>C->S at 1374: in MFS, MIM: 154700</li><li>N->S at 1382: in MFS, MIM: 154700</li><li>C->R at 1389: in MFS, MIM: 154700</li><li>Missing  at 1394-1396: in MFS, MIM: 154700</li><li>C->R at 1402: in MFS, MIM: 154700</li><li>D->Y at 1404: in MFS, MIM: 154700</li><li>P->A at 1424: in MFS, MIM: 154700</li><li>P->S at 1424: in MFS, MIM: 154700</li><li>C->S at 1429: in MFS, MIM: 154700</li><li>G->E at 1475: in MFS, MIM: 154700</li><li>G->S at 1475: in MFS, MIM: 154700</li><li>C->R at 1513: in MFS, MIM: 154700</li><li>R->C at 1530: in EL, MIM: 129600</li><li>C->F at 1564: in MFS, MIM: 154700</li><li>C->Y at 1564: in MFS, MIM: 154700</li><li>M->T at 1576: in MFS, MIM: 154700</li><li>C->F at 1589: in MFS, MIM: 154700</li><li>C->G at 1610: in MFS, MIM: 154700</li><li>C->G at 1631: in MFS, MIM: 154700</li><li>C->R at 1663: in MFS, MIM: 154700</li><li>C->Y at 1663: in MFS, MIM: 154700</li><li>Missing  at 1692-1699: in WMS, MIM: 154700</li><li>C->F at 1770: in MFS, MIM: 154700</li><li>R->P at 1790: in MFS, MIM: 154700</li><li>C->R at 1791: in MFS, MIM: 154700</li><li>C->Y at 1791: in MFS, MIM: 154700</li><li>C->W at 1793: in MFS, MIM: 154700</li><li>G->E at 1796: in MFS, MIM: 154700</li><li>C->S at 1806: in MFS, MIM: 154700</li><li>C->Y at 1806: in MFS, MIM: 154700</li><li>C->S at 1833: in MFS, MIM: 154700</li><li>C->Y at 1835: in MFS, MIM: 154700</li><li>P->S at 1837: in MFS, MIM: 154700</li><li>C->Y at 1876: in MFS, MIM: 154700</li><li>T->I at 1887: in MFS, MIM: 154700</li><li>N->K at 1893: in MFS, MIM: 154700</li><li>C->R at 1895: in MFS, MIM: 154700</li><li>C->Y at 1900: in MFS, MIM: 154700</li><li>I->T at 1909: in MFS, MIM: 154700</li><li>R->S at 1915: in MFS, MIM: 154700</li><li>C->G at 1928: in MFS, MIM: 154700</li><li>C->R at 1928: in MFS, MIM: 154700</li><li>C->Y at 1928: in MFS, MIM: 154700</li><li>Missing  at 1931: in MFS, MIM: 154700</li><li>C->Y at 1971: in MFS, MIM: 154700</li><li>C->Y at 1977: in MFS, MIM: 154700</li><li>C->Y at 1998: in MFS, MIM: 154700</li><li>C->Y at 2038: in MFS: in dbSNP rsrs363804, MIM: 154700</li><li>C->R at 2085: in MFS, MIM: 154700</li><li>C->W at 2099: in MFS, MIM: 154700</li><li>T->M at 2101, MIM: 154700</li><li>C->R at 2111: in MFS: in dbSNP rsrs363815, MIM: 154700</li><li>C->Y at 2111: in MFS, MIM: 154700</li><li>D->E at 2127: in MFS, MIM: 154700</li><li>C->Y at 2142: in MFS, MIM: 154700</li><li>N->S at 2144: in MFS, MIM: 154700</li><li>C->W at 2151: in MFS, MIM: 154700</li><li>P->R at 2154: in EL, MIM: 129600</li><li>A->P at 2160: in MFS, MIM: 154700</li><li>C->F at 2221: in MFS, MIM: 154700</li><li>C->G at 2221: in MFS, MIM: 154700</li><li>C->S at 2221: in MFS, MIM: 154700</li><li>N->H at 2223: in MFS, MIM: 154700</li><li>C->R at 2251: in MFS, MIM: 154700</li><li>C->R at 2258: in MFS, MIM: 154700</li><li>I->T at 2269: in MFS, MIM: 154700</li><li>R->W at 2282: in MFS, MIM: 154700</li><li>C->S at 2307: in MFS, MIM: 154700</li><li>R->W at 2335: in MFS, MIM: 154700</li><li>C->Y at 2339: in EL; patient presenting also flat corneas, MIM: 129600</li><li>A->T at 2385: in MFS, MIM: 154700</li><li>C->Y at 2406: in MFS, MIM: 154700</li><li>C->W at 2442: in MFS, MIM: 154700</li><li>E->K at 2447: in EL, MIM: 129600</li><li>Y->C at 2474: in MFS, MIM: 154700</li><li>C->R at 2489: in MFS, MIM: 154700</li><li>C->R at 2500: in MFS, MIM: 154700</li><li>C->Y at 2500: in MFS, MIM: 154700</li><li>C->R at 2511: in MFS, MIM: 154700</li><li>C->W at 2535: in MFS, MIM: 154700</li><li>G->R at 2536: in MFS, MIM: 154700</li><li>E->K at 2570: in MFS, MIM: 154700</li><li>C->R at 2571: in MFS, MIM: 154700</li><li>C->F at 2581: in MFS, MIM: 154700</li><li>I->T at 2585: in MFS, MIM: 154700</li><li>C->S at 2592: in MFS, MIM: 154700</li><li>C->R at 2605: in MFS, MIM: 154700</li><li>C->Y at 2605: in MFS, MIM: 154700</li><li>E->K at 2610: in MFS, MIM: 154700</li><li>G->R at 2618: in MFS, MIM: 154700</li><li>H->P at 2623: in MFS, MIM: 154700</li><li>N->K at 2624: in MFS, MIM: 154700</li><li>G->R at 2627: in MFS, MIM: 154700</li><li>Y->C at 2629: in MFS, MIM: 154700</li><li>C->G at 2652: in MFS, MIM: 154700</li><li>C->S at 2663: in MFS, MIM: 154700</li><li>G->C at 2668: in MFS, MIM: 154700</li><li>R->C at 2680: in MFS, MIM: 154700</li><li>R->W at 2726: in MFS; defects in protein processing, MIM: 154700</li>	protein processing	GO:0016485						<li>Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]</li><li>Marfan syndrome (MFS) [MIM:154700]</li><li>Isolated ectopia lentis (EL) [MIM:129600]</li>	<li>rs140593</li><li>rs140592</li><li>rs25397</li><li>rs363853</li><li>rs140599</li><li>rs25403</li><li>rs140598</li><li>rs363815</li><li>rs363804</li>	2
P35556	2201		<li>E->K at 390: in CCA, MIM: 121050</li><li>S->T at 593, MIM: 121050</li><li>R->H at 680, MIM: 121050</li><li>V->I at 964: in dbSNP rsrs154001, MIM: 121050</li><li>G->D at 1056: in CCA, MIM: 121050</li><li>I->T at 1092: in CCA, MIM: 121050</li><li>D->H at 1114: in CCA, MIM: 121050</li><li>C->F at 1141: in CCA, MIM: 121050</li><li>G->C at 1178: in CCA, MIM: 121050</li><li>C->Y at 1197: in CCA, MIM: 121050</li><li>C->R at 1239: in CCA, MIM: 121050</li><li>C->W at 1252: in CCA: in dbSNP rsrs28931602, MIM: 121050</li><li>C->Y at 1252: in CCA, MIM: 121050</li><li>C->W at 1256: in CCA, MIM: 121050</li><li>C->R at 1267: in CCA, MIM: 121050</li><li>C->S at 1433: in CCA, MIM: 121050</li><li>G->W at 1771, MIM: 121050</li><li>L->F at 2265, MIM: 121050</li><li>P->T at 2427: in dbSNP:rs1801169, MIM: 121050</li><li>L->S at 2580: in dbSNP:rs2291628, MIM: 121050</li><li>P->S at 2770: in dbSNP:rs1801170, MIM: 121050</li>							<li>P82859</li><li>O02197</li>	Congenital contractural arachnodactyly (CCA) [MIM:121050]	<li>rs28931602</li><li>rs154001</li><li>rs2291628</li><li>rs1801169</li><li>rs1801170</li>	2
P35558	5105		<li>R->Q at 55: in dbSNP:rs28383585</li><li>M->T at 60: in dbSNP:rs28383586</li><li>T->I at 138: in dbSNP:rs28359542</li><li>V->L at 184: in dbSNP:rs707555</li><li>I->V at 267: in dbSNP:rs8192708</li><li>E->K at 276: in dbSNP:rs11552145</li><li>V->I at 368: in dbSNP:rs1804160</li><li>P->S at 427: in dbSNP:rs28359550</li><li>E->D at 586: in dbSNP:rs1042529</li>									<li>rs28359550</li><li>rs8192708</li><li>rs28359542</li><li>rs28383586</li><li>rs11552145</li><li>rs1042529</li><li>rs1804160</li><li>rs707555</li><li>rs28383585</li>	2
P35573	178		<li>T->A at 38: in dbSNP:rs35278779</li><li>Q->R at 229: in dbSNP:rs17121403</li><li>R->Q at 387: in dbSNP:rs17121464</li><li>A->S at 701: in dbSNP:rs3736297</li><li>S->C at 962: in dbSNP:rs34714252</li><li>P->S at 1067: in dbSNP:rs3753494</li><li>G->R at 1115: in dbSNP:rs2230307</li><li>I->N at 1144: in dbSNP:rs2230308</li><li>A->T at 1207: in dbSNP:rs11807956</li><li>R->H at 1253: in dbSNP:rs12043139</li><li>E->K at 1343</li><li>G->R at 1448: in GSD3, MIM: 232400</li><li>R->G at 1487: in dbSNP:rs12118058, MIM: 232400</li>								Glycogen storage disease type 3 (GSD3) [MIM:232400]	<li>rs2230307</li><li>rs35278779</li><li>rs2230308</li><li>rs11807956</li><li>rs17121403</li><li>rs12118058</li><li>rs12043139</li><li>rs17121464</li><li>rs3753494</li><li>rs34714252</li><li>rs3736297</li>	2
P35579	4627		<li>N->K at 93: in MHA, MIM: 155100</li><li>A->T at 95: in MHA, MIM: 155100</li><li>S->L at 96: in EPS, MIM: 153650</li><li>K->N at 373: in MHA and SBS, MIM: 605249</li><li>R->C at 702: in APSM, EPS, FTNS, MHA and SBS, MIM: 605249</li><li>R->H at 702: in APSM and EPS, MIM: 153650</li><li>R->H at 705: in DFNA17, MIM: 603622</li><li>K->N at 810: in a breast cancer sample; somatic mutation, MIM: 603622</li><li>K->Q at 910: in FTNS, MIM: 153640</li><li>V->E at 967: in dbSNP:rs16996652, MIM: 153640</li><li>Missing  at 1066-1072: in MHA and SBS, MIM: 153640</li><li>S->P at 1114: in APSM, MIM: 153650</li><li>T->I at 1155: in MHA and FTNS, MIM: 155100</li><li>R->C at 1165: in FTNS and SBS, MIM: 605249</li><li>R->L at 1165: in FTNS, MHA and SBS, MIM: 605249</li><li>Missing  at 1205-1207: in SBS, MIM: 605249</li><li>R->W at 1400: in a EPS patient; might contribute to pathogenicity; when associated with L-96, MIM: 605249</li><li>D->H at 1424: in FTNS and MHA, MIM: 155100</li><li>D->N at 1424: in FTNS, MHA, SBS and MPSD; affects protein stability, MIM: 605249</li><li>D->Y at 1424: in MHA, MIM: 155100</li><li>I->V at 1626: in dbSNP:rs2269529, MIM: 155100</li><li>I->V at 1816: in EPS, MIM: 153650</li><li>E->K at 1841: in FTNS, SBS, MHA and EPS, MIM: 605249</li>							O81192	<li>May-Hegglin anomaly (MHA) [MIM:155100]</li><li>Fechtner syndrome (FTNS) [MIM:153640]</li><li>Epstein syndrome (EPS) [MIM:153650]</li><li>Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]</li><li>Macrothrombocytopenia with progressive sensorineural deafness (MPSD) [MIM:600208]</li><li>Non-syndromic sensorineural deafness autosomal dominant type 17 (DFNA17) [MIM:603622]</li><li>Sebastian syndrome (SBS) [MIM:605249]</li>	<li>rs2269529</li><li>rs16996652</li>	2
P35590	7075		<li>V->M at 448: in dbSNP rsrs56302794</li><li>A->V at 1104: in dbSNP rsrs35573981</li><li>R->H at 1109: in dbSNP rsrs34993202</li>									<li>rs35573981</li><li>rs56302794</li><li>rs34993202</li>	2
P35609	88		<li>Q->R at 9: in CMD1AA, MIM: 612158</li><li>M->V at 604: in dbSNP:rs35997569, MIM: 612158</li>								Cardiomyopathy dilated type 1AA (CMD1AA) [MIM:612158]	rs35997569	2
P35610	6646		<li>Q->R at 526: in dbSNP:rs13306731</li>									rs13306731	2
P35612	119		<li>D->N at 28: in dbSNP:rs4986</li><li>S->C at 98: in dbSNP:rs4987</li><li>E->D at 335: in dbSNP:rs4982</li><li>T->A at 439: in dbSNP:rs17855969</li><li>S->R at 663: in dbSNP:rs4985</li>									<li>rs4982</li><li>rs4985</li><li>rs4987</li><li>rs4986</li><li>rs17855969</li>	2
P35613	682		<li>E->K at 208: in Ok</li><li>G->V at 269: in dbSNP:rs1803203</li>									rs1803203	2
P35625	7078		<li>S->C at 179: in SFD, MIM: 136900</li><li>G->C at 189: in SFD, MIM: 136900</li><li>G->C at 190: in SFD, MIM: 136900</li><li>Y->C at 191: in SFD, MIM: 136900</li><li>S->C at 204: in SFD, MIM: 136900</li>								Sorsby fundus dystrophy (SFD) [MIM:136900]		2
P35626	157		<li>R->S at 50: in dbSNP rsrs55700971</li><li>N->S at 60: in dbSNP rsrs55740593</li><li>R->K at 104: in a lung bronchoalveolar carcinoma sample; somatic mutation</li><li>V->M at 409: in dbSNP:rs2272859</li>									<li>rs55740593</li><li>rs2272859</li><li>rs55700971</li>	2
P35637	2521		<li>R->C at 244: in ALS6, MIM: 608030</li><li>K->Q at 312: in a breast cancer sample; somatic mutation, MIM: 608030</li><li>R->G at 514: in ALS6, MIM: 608030</li><li>R->S at 514: in ALS6, MIM: 608030</li><li>G->C at 515: in ALS6, MIM: 608030</li><li>H->Q at 517: does not affect protein nuclear localization, MIM: 608030</li><li>R->K at 518: in ALS6, MIM: 608030</li><li>R->C at 521: in ALS6; results in aberrant trafficking and cytoplasmic retention of the protein, MIM: 608030</li><li>R->G at 521: in ALS6; results in aberrant trafficking and cytoplasmic retention of the protein, MIM: 608030</li><li>R->H at 521: in ALS6; results in aberrant trafficking and cytoplasmic retention of the protein, MIM: 608030</li><li>R->G at 522: in ALS6, MIM: 608030</li><li>R->S at 524: in ALS6, MIM: 608030</li><li>R->T at 524: in ALS6, MIM: 608030</li><li>P->L at 525: in ALS6, MIM: 608030</li>	localization	GO:0051179						Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]		2
P35638	1649		<li>A->V at 115: in a colorectal cancer sample; somatic mutation</li>										2
P35658	8021		<li>G->A at 424: in a breast cancer sample; somatic mutation</li><li>P->S at 574: in dbSNP:rs103612</li><li>P->L at 1378: in a breast cancer sample; somatic mutation</li><li>A->V at 1392: in a breast cancer sample; somatic mutation</li>									rs103612	2
P35659	7913		<li>V->A at 140: in dbSNP:rs17336208</li>									rs17336208	2
P35663	1538		<li>D->H at 399: in dbSNP:rs12008888</li>									rs12008888	2
P35670	540		<li>A->D at 14</li><li>N->S at 41: in WD, MIM: 277900</li><li>G->V at 85: in WD, MIM: 277900</li><li>G->D at 96, MIM: 277900</li><li>V->L at 290, MIM: 277900</li><li>I->V at 390, MIM: 277900</li><li>S->A at 406: in dbSNP:rs1801243, MIM: 277900</li><li>V->L at 446, MIM: 277900</li><li>V->L at 456: in dbSNP:rs1801244, MIM: 277900</li><li>L->V at 466, MIM: 277900</li><li>A->S at 486: in WD, MIM: 277900</li><li>L->S at 492: in WD, MIM: 277900</li><li>Y->H at 532: in WD, MIM: 277900</li><li>N->S at 565, MIM: 277900</li><li>G->D at 591: in WD, MIM: 277900</li><li>A->P at 604: in WD, MIM: 277900</li><li>FD->Y at 608-609: in WD, MIM: 277900</li><li>R->Q at 616: in WD, MIM: 277900</li><li>R->W at 616: in WD, MIM: 277900</li><li>G->A at 626: in WD, MIM: 277900</li><li>H->Y at 639: in WD, MIM: 277900</li><li>L->S at 641: in WD, MIM: 277900</li><li>D->H at 642: in WD, MIM: 277900</li><li>M->R at 645: in WD, MIM: 277900</li><li>S->Y at 653: in WD, MIM: 277900</li><li>M->I at 665: in WD, MIM: 277900</li><li>Missing  at 670-671: in WD, MIM: 277900</li><li>P->L at 690: in WD, MIM: 277900</li><li>G->R at 691: in WD, MIM: 277900</li><li>S->C at 693: in WD, MIM: 277900</li><li>C->Y at 703: in WD, MIM: 277900</li><li>L->P at 708: in WD, MIM: 277900</li><li>G->A at 710: in WD, MIM: 277900</li><li>G->R at 710: in WD, MIM: 277900</li><li>G->S at 710: in WD, MIM: 277900</li><li>G->V at 710: in WD, MIM: 277900</li><li>G->E at 711: in WD, MIM: 277900</li><li>G->R at 711: in WD, MIM: 277900</li><li>G->W at 711: in WD, MIM: 277900</li><li>Y->C at 713: in WD, MIM: 277900</li><li>S->P at 721: in WD, MIM: 277900</li><li>R->G at 723, MIM: 277900</li><li>T->R at 737: in WD, MIM: 277900</li><li>Y->C at 741: in WD, MIM: 277900</li><li>S->P at 744: in WD, MIM: 277900</li><li>I->F at 747: in WD, MIM: 277900</li><li>A->G at 756: in WD, MIM: 277900</li><li>P->L at 760: in WD, MIM: 277900</li><li>D->G at 765: in WD, MIM: 277900</li><li>D->N at 765: in WD: in dbSNP rsrs28942075, MIM: 277900</li><li>T->M at 766: in WD, MIM: 277900</li><li>T->R at 766: in WD, MIM: 277900</li><li>P->H at 768: in WD, MIM: 277900</li><li>M->I at 769: in WD, MIM: 277900</li><li>M->R at 769: in WD, MIM: 277900</li><li>M->V at 769: in WD, MIM: 277900</li><li>L->P at 776: in WD, MIM: 277900</li><li>L->V at 776: possible polymorphism, MIM: 277900</li><li>R->G at 778: in WD, MIM: 277900</li><li>R->L at 778: in WD; most common mutation: in dbSNP rsrs28942074, MIM: 277900</li><li>R->Q at 778: in WD, MIM: 277900</li><li>R->W at 778: in WD, MIM: 277900</li><li>L->F at 795: in WD, MIM: 277900</li><li>L->R at 795: in WD, MIM: 277900</li><li>K->R at 832: in dbSNP:rs1061472, MIM: 277900</li><li>P->L at 840: in WD, MIM: 277900</li><li>I->T at 857: in WD, MIM: 277900</li><li>A->T at 861: in WD, MIM: 277900</li><li>V->I at 864, MIM: 277900</li><li>G->R at 869: in WD, MIM: 277900</li><li>G->V at 869: in WD, MIM: 277900</li><li>A->V at 874: in WD, MIM: 277900</li><li>R->G at 875, MIM: 277900</li><li>R->V at 875: in WD; requires 2 nucleotide substitutions, MIM: 277900</li><li>V->M at 890: in WD, MIM: 277900</li><li>G->V at 891: in WD, MIM: 277900</li><li>Q->R at 898: in WD, MIM: 277900</li><li>D->E at 918: in WD, MIM: 277900</li><li>D->N at 918: in WD, MIM: 277900</li><li>R->G at 919: in WD, MIM: 277900</li><li>R->W at 919: in WD, MIM: 277900</li><li>S->N at 921: in WD, MIM: 277900</li><li>T->P at 933: in WD, MIM: 277900</li><li>T->M at 935: in WD, MIM: 277900</li><li>G->C at 943: in WD, MIM: 277900</li><li>G->D at 943: in WD, MIM: 277900</li><li>G->S at 943: in WD: in dbSNP rsrs28942076, MIM: 277900</li><li>V->G at 949: in WD, MIM: 277900</li><li>K->R at 952: in dbSNP:rs732774, MIM: 277900</li><li>I->F at 967: in WD; dbSNP:rs60003608, MIM: 277900</li><li>R->Q at 969: in WD, MIM: 277900</li><li>S->Y at 975: in WD, MIM: 277900</li><li>T->M at 977: in WD, MIM: 277900</li><li>C->Y at 985: in WD, MIM: 277900</li><li>G->R at 988: in WD, MIM: 277900</li><li>T->M at 991: in WD; dbSNP:rs41292782, MIM: 277900</li><li>P->H at 992: in WD, MIM: 277900</li><li>P->L at 992: in WD; common mutation, MIM: 277900</li><li>V->A at 995, MIM: 277900</li><li>M->T at 996: in WD, MIM: 277900</li><li>G->R at 1000: in WD, MIM: 277900</li><li>A->T at 1003: in WD, MIM: 277900</li><li>A->V at 1003: in WD, MIM: 277900</li><li>A->V at 1018: in WD, MIM: 277900</li><li>T->I at 1029: in WD, MIM: 277900</li><li>T->I at 1031: in WD, MIM: 277900</li><li>T->A at 1033: in WD, MIM: 277900</li><li>T->S at 1033: in WD, MIM: 277900</li><li>G->V at 1035: in WD, MIM: 277900</li><li>R->K at 1038: in WD; dbSNP:rs59959366, MIM: 277900</li><li>R->P at 1041: in WD, MIM: 277900</li><li>R->W at 1041: in WD, MIM: 277900</li><li>L->P at 1043: in WD, MIM: 277900</li><li>P->L at 1052: in WD, MIM: 277900</li><li>G->E at 1061: in WD, MIM: 277900</li><li>A->V at 1063: in WD; could be a polymorphism, MIM: 277900</li><li>E->A at 1064: in WD, MIM: 277900</li><li>E->K at 1064: in WD, MIM: 277900</li><li>A->P at 1065: in WD, MIM: 277900</li><li>E->G at 1068: in WD; common mutation, MIM: 277900</li><li>H->Q at 1069: in WD; common mutation, MIM: 277900</li><li>L->F at 1083: in WD, MIM: 277900</li><li>G->E at 1089: in WD, MIM: 277900</li><li>G->V at 1089: in WD, MIM: 277900</li><li>F->L at 1094: in WD, MIM: 277900</li><li>Q->P at 1095: in WD, MIM: 277900</li><li>P->R at 1098: in WD, MIM: 277900</li><li>G->S at 1099: in WD, MIM: 277900</li><li>G->R at 1101: in WD, MIM: 277900</li><li>I->T at 1102: in WD, MIM: 277900</li><li>C->F at 1104: in WD, MIM: 277900</li><li>C->Y at 1104: in WD, MIM: 277900</li><li>V->D at 1106: in WD, MIM: 277900</li><li>V->I at 1106: in WD, MIM: 277900</li><li>V->M at 1109, MIM: 277900</li><li>G->D at 1111: in WD, MIM: 277900</li><li>V->A at 1140: in dbSNP:rs1801249, MIM: 277900</li><li>Q->H at 1142: in WD, MIM: 277900</li><li>T->N at 1143, MIM: 277900</li><li>V->M at 1146: in WD, MIM: 277900</li><li>I->T at 1148: in WD; dbSNP:rs60431989, MIM: 277900</li><li>R->H at 1151: in WD, MIM: 277900</li><li>W->C at 1153: in WD, MIM: 277900</li><li>W->R at 1153: in WD, MIM: 277900</li><li>A->S at 1168: in WD, MIM: 277900</li><li>M->T at 1169: in WD, MIM: 277900</li><li>M->V at 1169: possible polymorphism, MIM: 277900</li><li>E->K at 1173: in WD, MIM: 277900</li><li>G->E at 1176: in WD, MIM: 277900</li><li>G->R at 1176: in WD, MIM: 277900</li><li>A->G at 1183: in WD, MIM: 277900</li><li>A->T at 1183: in WD, MIM: 277900</li><li>G->C at 1186: in WD, MIM: 277900</li><li>G->S at 1186: in WD, MIM: 277900</li><li>H->R at 1207: in dbSNP:rs7334118, MIM: 277900</li><li>G->V at 1213: in WD, MIM: 277900</li><li>Missing  at 1216-1217: in WD, MIM: 277900</li><li>V->M at 1216: in WD, MIM: 277900</li><li>Missing  at 1217-1218: in WD, MIM: 277900</li><li>T->M at 1220: in WD, MIM: 277900</li><li>G->E at 1221: in WD, MIM: 277900</li><li>D->N at 1222: in WD, MIM: 277900</li><li>D->V at 1222: in WD, MIM: 277900</li><li>D->Y at 1222: in WD, MIM: 277900</li><li>T->P at 1232: in WD, MIM: 277900</li><li>V->G at 1239: in WD, MIM: 277900</li><li>P->S at 1245, MIM: 277900</li><li>K->N at 1248: in WD, MIM: 277900</li><li>V->I at 1252: in WD, MIM: 277900</li><li>L->I at 1255: in WD, MIM: 277900</li><li>Q->R at 1256: in WD, MIM: 277900</li><li>V->F at 1262: in WD, MIM: 277900</li><li>G->R at 1266: in WD; common mutation, MIM: 277900</li><li>G->V at 1266: in WD, MIM: 277900</li><li>D->A at 1267: in WD, MIM: 277900</li><li>N->S at 1270: in WD, MIM: 277900</li><li>D->N at 1271: in WD, MIM: 277900</li><li>P->L at 1273: in WD, MIM: 277900</li><li>A->V at 1278: in WD; uncertain pathogenicity, MIM: 277900</li><li>D->G at 1279: in WD, MIM: 277900</li><li>D->Y at 1279: in WD, MIM: 277900</li><li>Missing  at 1285-1292: in WD, MIM: 277900</li><li>G->S at 1287: in WD, MIM: 277900</li><li>D->N at 1296: in WD, MIM: 277900</li><li>V->I at 1297, MIM: 277900</li><li>Missing  at 1297: in WD, MIM: 277900</li><li>L->P at 1305: in WD, MIM: 277900</li><li>S->R at 1310: in WD, MIM: 277900</li><li>R->P at 1322: in WD, MIM: 277900</li><li>L->V at 1327: in WD, MIM: 277900</li><li>Y->S at 1331: in WD, MIM: 277900</li><li>I->T at 1336: in WD, MIM: 277900</li><li>G->D at 1341: in WD, MIM: 277900</li><li>G->S at 1341: in WD, MIM: 277900</li><li>G->V at 1341: in WD, MIM: 277900</li><li>P->S at 1352: in WD, MIM: 277900</li><li>W->R at 1353: in WD, MIM: 277900</li><li>G->C at 1355: in WD, MIM: 277900</li><li>G->S at 1355: in WD, MIM: 277900</li><li>A->S at 1358: in WD, MIM: 277900</li><li>S->F at 1363: in WD, MIM: 277900</li><li>L->P at 1368: in WD, MIM: 277900</li><li>L->P at 1373: in WD, MIM: 277900</li><li>L->R at 1373: in WD, MIM: 277900</li><li>C->S at 1375: in WD, MIM: 277900</li><li>P->S at 1379: in WD, MIM: 277900</li><li>D->E at 1407, MIM: 277900</li><li>T->M at 1434: in WD; dbSNP:rs60986317, MIM: 277900</li>								Wilson disease (WD) [MIM:277900]	<li>rs59959366</li><li>rs60986317</li><li>rs7334118</li><li>rs1801243</li><li>rs1801244</li><li>rs1061472</li><li>rs41292782</li><li>rs1801249</li><li>rs28942076</li><li>rs28942075</li><li>rs60431989</li><li>rs28942074</li><li>rs60003608</li><li>rs732774</li>	2
P35680	6928		<li>S->F at 36: in MODY5; gain-of-function mutation, MIM: 604284</li><li>V->G at 61: in MODY5, MIM: 604284</li><li>G->C at 76: in MODY5, MIM: 604284</li><li>V->G at 110: in MODY5, MIM: 604284</li><li>R->P at 112: in MODY5, MIM: 604284</li><li>Q->E at 136: in MODY5, MIM: 604284</li><li>S->L at 148: in MODY5, MIM: 604284</li><li>S->W at 148: in RCAD, MIM: 137920</li><li>S->P at 151: in renal tract malformation, MIM: 137920</li><li>H->N at 153: in MODY5, MIM: 604284</li><li>K->E at 156: in MODY5; has diminished transcriptional activity by loss of DNA binding activity, MIM: 604284</li><li>K->Q at 164: in MODY5, MIM: 604284</li><li>R->H at 165: in MODY5, MIM: 604284</li><li>R->Q at 235: in MODY5, MIM: 604284</li><li>A->T at 241: in diabetic nephropathy, MIM: 604284</li><li>E->D at 260: in MODY5; insignificant differences in transactivation ability between wild-type and mutated HNF1B, MIM: 604284</li><li>R->G at 276: in MODY5, MIM: 604284</li><li>R->Q at 276: in MODY5, MIM: 604284</li><li>G->D at 285: in MODY5, MIM: 604284</li><li>R->C at 295: in MODY5, MIM: 604284</li><li>R->H at 295: in MODY5, MIM: 604284</li><li>R->P at 295: in MODY5, MIM: 604284</li><li>G->S at 370: in MODY5, MIM: 604284</li><li>S->R at 465: in NIDDM; 22% reduction in activity, MIM: 125853</li><li>G->S at 492: in diabetes; ealy onset association; uncertain pathogenicity; dbSNP:rs1805035, MIM: 125853</li>			DNA binding	GO:0003677			<li>Q63149</li><li>P24503</li><li>P55283</li><li>P35680</li><li>P39038</li><li>Q03365</li>	<li>Renal cysts and diabetes syndrome (RCAD) [MIM:137920]</li><li>Maturity-onset diabetes of the young type 5 (MODY5) [MIM:604284]</li><li>Type 2 diabetes mellitus non-insulin dependent (NIDDM) [MIM:125853]</li>	rs1805035	2
P35713	54345		<li>W->R at 95: in HLTS; dbSNP:rs28936693, MIM: 607823</li><li>A->P at 104: in HLTS; dbSNP:rs28936692, MIM: 607823</li>								Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823]	<li>rs28936693</li><li>rs28936692</li>	2
P35749	4629		<li>A->T at 1104: in dbSNP:rs34263860</li><li>A->T at 1234: in dbSNP:rs16967494</li><li>Missing  at 1241-1264: in AAT4</li><li>V->A at 1289: in dbSNP:rs16967510</li><li>V->M at 1310: in dbSNP:rs7196804</li><li>M->V at 1508: in dbSNP:rs35176378</li><li>R->Q at 1758: in AAT4, MIM: 132900</li>								Aortic aneurysm familial thoracic type 4 (AAT4) [MIM:132900]	<li>rs16967510</li><li>rs35176378</li><li>rs7196804</li><li>rs34263860</li><li>rs16967494</li>	2
P35754	2745		<li>D->Y at 47: in dbSNP:rs4767</li>									rs4767	2
P35789	81931		<li>D->Y at 93: in dbSNP:rs12151060</li>									rs12151060	2
P35858	3483		<li>L->F at 97: in dbSNP:rs35947557</li><li>P->L at 307: in dbSNP:rs34297640</li><li>P->S at 498: in dbSNP:rs9282730</li><li>R->W at 548: in dbSNP:rs9282731</li>									<li>rs35947557</li><li>rs9282731</li><li>rs9282730</li><li>rs34297640</li>	2
P35908	3849		<li>Q->P at 187: in IBS, MIM: 146800</li><li>I->N at 188: in IBS, MIM: 146800</li><li>N->D at 192: in IBS, MIM: 146800</li><li>N->K at 192: in IBS, MIM: 146800</li><li>N->Y at 192: in IBS, MIM: 146800</li><li>E->D at 471: in IBS, MIM: 146800</li><li>E->K at 471: in IBS, MIM: 146800</li><li>E->K at 482: in IBS, MIM: 146800</li><li>E->V at 482: in IBS, MIM: 146800</li><li>I->N at 483: in IBS, MIM: 146800</li><li>T->P at 485: in IBS, MIM: 146800</li><li>L->P at 490: in IBS, MIM: 146800</li><li>E->D at 493: in IBS, MIM: 146800</li><li>E->K at 493: in IBS, MIM: 146800</li><li>E->K at 494: in IBS, MIM: 146800</li>								Ichthyosis bullosa of Siemens (IBS) [MIM:146800]		2
P35913	5158		<li>R->C at 74: in RP; autosomal recessive, MIM: 268000</li><li>E->K at 166, MIM: 268000</li><li>Y->H at 212, MIM: 268000</li><li>Y->H at 219: in RP; autosomal recessive, MIM: 268000</li><li>L->H at 228: in RP; autosomal recessive and autosomal dominant, MIM: 268000</li><li>L->I at 228, MIM: 268000</li><li>H->N at 258: in CSNBAD2, MIM: 163500</li><li>V->I at 320: in dbSNP:rs10902758, MIM: 163500</li><li>L->P at 527: in RP; autosomal recessive, MIM: 268000</li><li>I->N at 535: in RP; autosomal recessive, MIM: 268000</li><li>R->Q at 552: in RP; autosomal recessive, MIM: 268000</li><li>H->Y at 557: in RP; autosomal dominant, MIM: 268000</li><li>G->D at 576: in RP; autosomal recessive, MIM: 268000</li><li>E->D at 654: in dbSNP:rs17849286, MIM: 268000</li><li>L->R at 699: in RP; autosomal recessive, MIM: 268000</li><li>L->R at 854: in RP; autosomal recessive, MIM: 268000</li>								<li>Congenital stationary night blindness autosomal dominant type 2 (CSNBAD2) [MIM:163500]</li><li>Retinitis pigmentosa (RP) [MIM:268000]</li>	<li>rs10902758</li><li>rs17849286</li>	2
P35914	3155		<li>R->Q at 41: in HMG-CoA lyase deficiency, MIM: 246450</li><li>D->E at 42: in HMG-CoA lyase deficiency, MIM: 246450</li><li>D->G at 42: in HMG-CoA lyase deficiency, MIM: 246450</li><li>D->H at 42: in HMG-CoA lyase deficiency, MIM: 246450</li><li>V->L at 70: in HMG-CoA lyase deficiency, MIM: 246450</li><li>H->R at 233: in HMG-CoA lyase deficiency, MIM: 246450</li><li>E->K at 279: in HMG-CoA lyase deficiency: in dbSNP rsrs28934894, MIM: 246450</li>							<li>P38060</li><li>Q5R9E1</li><li>P97519</li><li>Q8HXZ6</li><li>P13703</li><li>P35915</li><li>Q29448</li><li>P35914</li>	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG-CoA lyase deficiency) [MIM:246450]	rs28934894	2
P35916	2324		<li>N->D at 149: in dbSNP rsrs34221241</li><li>R->C at 378: in a renal clear cell carcinoma sample; somatic mutation</li><li>T->A at 494: in dbSNP:rs307826</li><li>N->S at 527: in dbSNP:rs35874891</li><li>P->S at 641: does not affect kinase activity: in dbSNP rsrs55667289</li><li>G->R at 857: in LYH1A; loss of kinase activity, MIM: 153100</li><li>H->Y at 868: in dbSNP rsrs35171798, MIM: 153100</li><li>H->Q at 890: in dbSNP:rs448012, MIM: 153100</li><li>P->S at 954: in juvenile hemangioma: in dbSNP rsrs34255532, MIM: 153100</li><li>T->I at 1010: in a metastatic melanoma sample; somatic mutation, MIM: 153100</li><li>R->Q at 1031: in dbSNP rsrs56082504, MIM: 153100</li><li>H->R at 1035: in LYH1A; loss of kinase activity, MIM: 153100</li><li>R->P at 1041: in LYH1A; loss of kinase activity, MIM: 153100</li><li>L->P at 1044: in LYH1A; loss of kinase activity, MIM: 153100</li><li>D->N at 1049: in dbSNP rsrs56310180, MIM: 153100</li><li>R->Q at 1075, MIM: 153100</li><li>P->L at 1114: in LYH1A; loss of kinase activity, MIM: 153100</li><li>P->S at 1137: in juvenile hemangioma, MIM: 153100</li><li>R->H at 1146: in dbSNP rsrs1130379, MIM: 153100</li>			kinase activity	GO:0016301				Lymphedema hereditary type 1 (LYH1A) [MIM:153100]	<li>rs35171798</li><li>rs34221241</li><li>rs34255532</li><li>rs56310180</li><li>rs307826</li><li>rs56082504</li><li>rs35874891</li><li>rs1130379</li><li>rs55667289</li><li>rs448012</li>	2
P35968	3791		<li>Q->R at 2: in a lung adenocarcinoma sample; somatic mutation</li><li>V->M at 136: in dbSNP:rs35636987</li><li>A->G at 248: in a renal clear cell carcinoma sample; somatic mutation</li><li>R->L at 275: in a colorectal cancer sample; somatic mutation</li><li>V->I at 297: in dbSNP:rs2305948</li><li>L->V at 462: in dbSNP:rs56286620</li><li>Q->H at 472: in dbSNP:rs1870377</li><li>C->R at 482: in dbSNP:rs34231037</li><li>G->R at 539: in dbSNP:rs55716939</li><li>T->M at 689: in dbSNP:rs34038364</li><li>D->N at 814: in dbSNP:rs35603373</li><li>V->E at 848: in dbSNP:rs1139776</li><li>G->R at 873: in a colorectal cancer sample; somatic mutation</li><li>V->I at 952: in dbSNP:rs13129474</li><li>A->T at 1065: in dbSNP:rs56302315</li>									<li>rs34038364</li><li>rs35636987</li><li>rs1139776</li><li>rs13129474</li><li>rs35603373</li><li>rs2305948</li><li>rs34231037</li><li>rs1870377</li><li>rs56302315</li><li>rs55716939</li><li>rs56286620</li>	2
P36021	6567		<li>A->V at 150: in MCT8 deficiency, MIM: 300523</li><li>L->P at 397: in MCT8 deficiency, MIM: 300523</li><li>L->P at 438: in MCT8 deficiency, MIM: 300523</li>							P36021	Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]		2
P36222	1116		<li>R->G at 145: in dbSNP:rs880633</li><li>I->T at 311: in dbSNP:rs1049407</li>									<li>rs1049407</li><li>rs880633</li>	2
P36269	2687		<li>L->I at 11: in dbSNP:rs5760274</li><li>K->R at 330: in dbSNP:rs2275984</li><li>Q->H at 332: in dbSNP:rs6004105</li><li>I->V at 475: in dbSNP:rs7288201</li>									<li>rs7288201</li><li>rs2275984</li><li>rs5760274</li><li>rs6004105</li>	2
P36382	2702		<li>P->S at 88: in atrial fibrillation; idiopatic somatic</li><li>A->S at 96: in atrial fibrillation; idiopatic</li>										2
P36405	403		<li>L->M at 34: in dbSNP:rs1141895</li>									rs1141895	2
P36507	5605		<li>F->C at 57: in CFC syndrome, MIM: 115150</li>								Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]		2
P36508	7629		<li>T->M at 48: in dbSNP:rs2228265</li><li>R->C at 272: in dbSNP:rs33959228</li><li>R->Q at 403: in dbSNP:rs35582935</li>									<li>rs35582935</li><li>rs2228265</li><li>rs33959228</li>	2
P36543	529		<li>R->G at 50: in a colorectal cancer sample; somatic mutation</li>										2
P36551	1371		<li>V->A at 135: in HCP, MIM: 121300</li><li>Missing  at 162-168: in HCP, MIM: 121300</li><li>G->S at 189: in HCP; <5% of activity, MIM: 121300</li><li>G->W at 197: in HCP, MIM: 121300</li><li>E->K at 201: in HCP, MIM: 121300</li><li>S->F at 208: in HCP: in dbSNP rsrs28929486, MIM: 121300</li><li>L->R at 214: in HCP, MIM: 121300</li><li>P->R at 249: in HCP, MIM: 121300</li><li>P->S at 249: in HCP, MIM: 121300</li><li>N->H at 272: in dbSNP:rs1131857, MIM: 121300</li><li>G->R at 280: in HCP, MIM: 121300</li><li>V->I at 294: in dbSNP:rs2228056, MIM: 121300</li><li>H->D at 295: in HCP, MIM: 121300</li><li>R->C at 328: in HCP: in dbSNP rsrs28929487, MIM: 121300</li><li>R->W at 331: in HCP, MIM: 121300</li><li>R->C at 352: in dbSNP:rs11921054, MIM: 121300</li><li>Missing  at 390: in HCP, MIM: 121300</li><li>K->E at 404: in HCP; harderoporphyria form, MIM: 121300</li><li>W->R at 427: in HCP, MIM: 121300</li><li>R->C at 447: in HCP: in dbSNP rsrs28931603, MIM: 121300</li>							<li>P96095</li><li>Q8X6L0</li><li>Q7MVY0</li><li>Q01770</li><li>Q8G969</li><li>Q87QG0</li><li>P16230</li><li>Q7MLM1</li><li>Q8ZGE1</li><li>O27502</li><li>Q8EH67</li><li>Q8PS69</li><li>P29350</li><li>Q8ZQE8</li><li>Q58175</li><li>Q898N5</li><li>Q9X0Q4</li><li>Q8R6M9</li><li>P02760</li><li>Q8D8V3</li><li>Q8FJE0</li><li>Q8RFL1</li><li>Q8XHA1</li><li>Q83S05</li><li>Q8Z829</li><li>Q8KBT4</li><li>Q8A9X8</li><li>P75825</li><li>P31101</li><li>P23327</li>	Hereditary coproporphyria (HCP) [MIM:121300]	<li>rs11921054</li><li>rs2228056</li><li>rs28931603</li><li>rs28929486</li><li>rs28929487</li><li>rs1131857</li>	2
P36575	407		<li>L->F at 44: in dbSNP:rs17855428</li>									rs17855428	2
P36639	4521		<li>M->V at 124: in dbSNP:rs4866</li>									rs4866	2
P36776	9361		<li>E->D at 87: in dbSNP:rs34413649</li><li>R->Q at 241: in dbSNP:rs11085147</li>									<li>rs11085147</li><li>rs34413649</li>	2
P36871	5236		<li>K->M at 68: in allele PGM1*7+, allele PGM1*7-, allele PGM1*3+ and allele PGM1*3-</li><li>I->V at 88: in dbSNP:rs855314</li><li>R->C at 221: in allele PGM1*2+, allele PGM1*2-, allele PGM1*3+ and allele PGM1*3-; dbSNP:rs1126728</li><li>Y->H at 420: in allele PGM1*1-, allele PGM1*2-, allele PGM1*3- and allele PGM1*7-; dbSNP:rs11208257</li><li>V->I at 501: in dbSNP:rs6676290</li>							<li>P93262</li><li>P00949</li><li>Q9M4G4</li><li>P33401</li><li>O04499</li><li>Q42908</li><li>P36871</li><li>Q9SNX2</li><li>Q9ZSQ4</li><li>Q9SM60</li><li>Q4R5E4</li>		<li>rs855314</li><li>rs11208257</li><li>rs6676290</li><li>rs1126728</li>	2
P36888	2322		<li>D->G at 7: in dbSNP:rs12872889</li><li>V->A at 158: in dbSNP rsrs56321896</li><li>V->M at 194</li><li>T->M at 227: in dbSNP:rs1933437</li><li>D->N at 324: in dbSNP:rs35602083</li><li>D->V at 358: in dbSNP rsrs34172843</li><li>V->I at 557: in dbSNP:rs35958982</li>									<li>rs1933437</li><li>rs34172843</li><li>rs56321896</li><li>rs12872889</li><li>rs35602083</li><li>rs35958982</li>	2
P36894	657		<li>P->T at 2: in dbSNP rsrs11528010</li><li>F->Y at 58: in a renal clear cell carcinoma sample; somatic mutation</li><li>Y->D at 62: in JPS, MIM: 174900</li><li>C->Y at 82: in JPS, MIM: 174900</li><li>C->R at 124: in JPS, MIM: 174900</li><li>C->R at 130: in JPS, MIM: 174900</li><li>A->D at 338: in CD, MIM: 158350</li><li>C->Y at 376: in JPS, MIM: 174900</li><li>R->C at 443: in JPS: in dbSNP rsrs35619497, MIM: 174900</li><li>V->M at 450: in dbSNP rsrs55932635, MIM: 174900</li><li>M->T at 470: in JPS, MIM: 174900</li><li>R->Q at 486: in a gastric adenocarcinoma sample; somatic mutation, MIM: 174900</li>								<li>Juvenile polyposis syndrome (JPS) [MIM:174900]</li><li>Cowden disease (CD) [MIM:158350]</li>	<li>rs55932635</li><li>rs35619497</li><li>rs11528010</li>	2
P36896	91		<li>F->L at 146: in dbSNP rsrs34488074</li><li>L->V at 408: in dbSNP:rs928906</li>									<li>rs34488074</li><li>rs928906</li>	2
P36941	4055		<li>V->I at 274: in dbSNP:rs35681405</li>									rs35681405	2
P36952			<li>S->P at 176: in dbSNP:rs2289519</li><li>V->L at 187: in dbSNP:rs2289520</li><li>I->V at 319: in dbSNP:rs1455555</li>									<li>rs2289520</li><li>rs2289519</li><li>rs1455555</li>	2
P36955			<li>M->T at 72: in dbSNP:rs1136287</li><li>P->R at 132: in dbSNP:rs1804145</li>									<li>rs1804145</li><li>rs1136287</li>	2
P36957			<li>A->P at 213</li><li>P->T at 384</li>										2
P36959	2766		<li>A->T at 234</li><li>F->I at 256: in dbSNP:rs1042391</li>									rs1042391	2
P36969	2879		<li>S->N at 2: in dbSNP:rs8178967</li><li>A->T at 120: in infertility; reduced activity</li>									rs8178967	2
P37023	94		<li>GA->EP at 48-49: in HHT2</li><li>G->R at 48: in HHT2, MIM: 600376</li><li>W->C at 50: in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum, MIM: 600376</li><li>C->Y at 51: in HHT2, MIM: 600376</li><li>R->Q at 67: in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum, MIM: 600376</li><li>R->W at 67: in HHT2, MIM: 600376</li><li>C->W at 77: in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum, MIM: 600376</li><li>N->D at 96: in HHT2, MIM: 600376</li><li>D->A at 179: in HHT2; mutant protein is capable of targeting the cell surface appropriately, MIM: 600376</li><li>G->D at 211: in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum: in dbSNP rsrs28936687, MIM: 600376</li><li>E->K at 215: in HHT2, MIM: 600376</li><li>G->R at 223: in HHT2, MIM: 600376</li><li>K->R at 229: in HHT2, MIM: 600376</li><li>Missing  at 232: in HHT2; mutant protein is capable of targeting the cell surface appropriately, MIM: 600376</li><li>Missing  at 233: in HHT2, MIM: 600376</li><li>I->N at 245: in dbSNP:rs1804508, MIM: 600376</li><li>Missing  at 254: in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum, MIM: 600376</li><li>L->F at 285: in HHT2, MIM: 600376</li><li>A->P at 306: in HHT2, MIM: 600376</li><li>H->Y at 314: in HHT2, MIM: 600376</li><li>S->I at 333: in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum, MIM: 600376</li><li>L->P at 337: in HHT2, MIM: 600376</li><li>C->Y at 344: in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum: in dbSNP rsrs28936688, MIM: 600376</li><li>A->P at 347: in HHT2, MIM: 600376</li><li>R->Q at 374: in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum, MIM: 600376</li><li>R->W at 374: in HHT2: in dbSNP rsrs28936401, MIM: 600376</li><li>M->R at 376: in HHT2: in dbSNP rsrs28936399, MIM: 600376</li><li>M->V at 376: in HHT2, MIM: 600376</li><li>P->L at 378: in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum, MIM: 600376</li><li>E->K at 379: in HHT2, MIM: 600376</li><li>D->G at 397: in HHT2, MIM: 600376</li><li>I->N at 398: in HHT2: in dbSNP rsrs28936400, MIM: 600376</li><li>W->S at 399: in HHT2: in dbSNP rsrs28936402, MIM: 600376</li><li>E->D at 407: in HHT2, MIM: 600376</li><li>R->P at 411: in HHT2: in dbSNP rsrs28936398, MIM: 600376</li><li>R->Q at 411: in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum: in dbSNP rsrs28936398, MIM: 600376</li><li>R->W at 411: in HHT2, MIM: 600376</li><li>P->T at 424: in HHT2, MIM: 600376</li><li>F->L at 425: in HHT2, MIM: 600376</li><li>F->V at 425: in HHT2, MIM: 600376</li><li>Missing  at 425: in HHT2, MIM: 600376</li><li>R->L at 479: in HHT2, MIM: 600376</li><li>A->V at 482: in HHT2, MIM: 600376</li><li>R->W at 484: in HHT2, MIM: 600376</li><li>K->T at 487: in HHT2; mutant protein is capable of targeting the cell surface appropriately, MIM: 600376</li>					<li>cytoplasm</li><li>endoplasmic reticulum</li><li>cell surface</li>	<li>GO:0005737</li><li>GO:0005783</li><li>GO:0009928,GO:0009986</li>	<li>P61833</li><li>P61831</li><li>P61830</li><li>Q757N1</li><li>P69150</li>	Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	<li>rs28936687</li><li>rs28936399</li><li>rs28936688</li><li>rs28936398</li><li>rs28936400</li><li>rs28936402</li><li>rs28936401</li><li>rs1804508</li>	2
P37058	3293		<li>V->I at 31: in dbSNP:rs2066480</li><li>A->T at 56: in MPH; Cambridge-2. Affects NADPH cofactor binding, MIM: 264300</li><li>S->L at 65: in MPH, MIM: 264300</li><li>R->Q at 80: in MPH; Gaza, MIM: 264300</li><li>R->W at 80: in MPH, MIM: 264300</li><li>N->S at 130: in MPH; Cambridge-1. Complete loss of activity, MIM: 264300</li><li>Q->P at 176: in MPH, MIM: 264300</li><li>A->V at 203: in MPH, MIM: 264300</li><li>V->E at 205: in MPH, MIM: 264300</li><li>F->I at 208: in MPH, MIM: 264300</li><li>E->D at 215: in MPH, MIM: 264300</li><li>S->L at 232: in MPH: in dbSNP rsrs28939085, MIM: 264300</li><li>M->V at 235: in MPH, MIM: 264300</li><li>C->Y at 268: in MPH; complete loss of activity, MIM: 264300</li><li>P->L at 282: in MPH, MIM: 264300</li><li>G->S at 289: in dbSNP:rs2066479, MIM: 264300</li>			cofactor binding	GO:0048037				Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	<li>rs28939085</li><li>rs2066480</li><li>rs2066479</li>	2
P37059	3294		<li>A->T at 121: in dbSNP:rs8191136</li>									rs8191136	2
P37088	6337		<li>G->C at 327: in PHA1, MIM: 264350</li><li>P->H at 402: in dbSNP:rs13306616, MIM: 264350</li><li>W->R at 493: rare polymorphism; dbSNP:rs5742912, MIM: 264350</li><li>S->L at 562: in PHA1, MIM: 264350</li><li>C->F at 618: in dbSNP:rs3741913, MIM: 264350</li><li>T->A at 663: in dbSNP:rs2228576, MIM: 264350</li>								Autosomal recessive pseudohypoaldosteronism type 1 (PHA1) [MIM:264350]	<li>rs3741913</li><li>rs2228576</li><li>rs5742912</li><li>rs13306616</li>	2
P37108	6727		<li>P->S at 51: in dbSNP:rs1802601</li><li>S->I at 68: in dbSNP:rs1802600</li><li>P->A at 124: in dbSNP:rs7535</li><li>T->A at 125: in dbSNP:rs16924476</li><li>A->T at 127: in dbSNP:rs16924521</li><li>T->A at 130: in dbSNP:rs4814</li>									<li>rs4814</li><li>rs16924521</li><li>rs7535</li><li>rs16924476</li><li>rs1802601</li><li>rs1802600</li>	2
P37198	23636		<li>G->S at 139: in dbSNP:rs3745489</li><li>A->S at 233: in dbSNP:rs2290772</li><li>S->T at 283: in dbSNP:rs1062798</li><li>Q->P at 391: in SNDI, MIM: 271930</li>								Infantile striatonigral degeneration (SNDI) [MIM:271930]	<li>rs3745489</li><li>rs2290772</li><li>rs1062798</li>	2
P37231	5468		<li>P->A at 12: significant independent determinant of CIMT; may protect from early atherosclerosis in subjetc at risk for diabetes; associated with BMI; dbSNP:rs1801282: in dbSNP rsrs1801282,rs1805192</li><li>P->A at 40: in dbSNP:rs1805192</li><li>P->Q at 113: in obesity; dbSNP:rs1800571, MIM: 601665</li><li>Q->P at 314: in colon cancer; sporadic; somatic mutation; loss of ligand-binding; dbSNP:rs28936407, MIM: 601665</li><li>R->H at 316: in colon cancer; sporadic; somatic mutation; partial loss of ligand-binding; dbSNP:rs28936407, MIM: 601665</li><li>V->M at 318: in diabetes, MIM: 601665</li><li>F->L at 388: in FPLD3, MIM: 604367</li><li>R->C at 425: in FPLD3, MIM: 604367</li><li>P->L at 495: in diabetes, MIM: 604367</li>			binding	GO:0005488				<li>Obesity [MIM:601665]</li><li>Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]</li>	<li>rs1800571</li><li>rs1801282</li><li>rs1805192</li><li>rs28936407</li>	2
P37268	2222		<li>K->R at 45: influences plasma cholesterol levels; associated with increased total cholesterol and non-high-density lipoprotein cholesterol; dbSNP:rs11549147</li><li>L->P at 392: in dbSNP:rs1804473</li>							P81182		<li>rs1804473</li><li>rs11549147</li>	2
P37275	6935		<li>G->R at 90: in dbSNP:rs12217419</li><li>K->R at 553: in dbSNP:rs35753967</li>									<li>rs35753967</li><li>rs12217419</li>	2
P37287	5277		<li>R->W at 19: in PNH: in dbSNP rsrs34422225, MIM: 311770</li><li>D->H at 40: in PNH, MIM: 311770</li><li>G->A at 48: in PNH, MIM: 311770</li><li>G->D at 48: in PNH, MIM: 311770</li><li>G->V at 48: in PNH, MIM: 311770</li><li>H->R at 128: in PNH, MIM: 311770</li><li>S->F at 155: in PNH, MIM: 311770</li><li>G->R at 239: in PNH, MIM: 311770</li><li>N->D at 297: in PNH, MIM: 311770</li>								Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	rs34422225	2
P37288	552		<li>G->S at 6: in dbSNP:rs2228154</li>									rs2228154	2
P37802	8407		<li>L->Q at 69: in dbSNP:rs17849636</li>									rs17849636	2
P37837	6888		<li>Missing  at 171: in TALDO1 deficiency</li>							<li>Q8VI73</li><li>P37837</li><li>Q2TBL6</li><li>Q29593</li>			2
P38117	2109		<li>D->N at 128: in GA2B, MIM: 231680</li><li>T->M at 154: in dbSNP:rs1130426, MIM: 231680</li><li>R->Q at 164: in GA2B, MIM: 231680</li>								Glutaric aciduria type 2B (GA2B) [MIM:231680]	rs1130426	2
P38435	2677		<li>F->S at 299: in PXE-like disorder with multiple coagulation factor deficiency, MIM: 610842</li><li>R->Q at 325: in dbSNP:rs699664, MIM: 610842</li><li>L->R at 394: in VKCFD1; affects glutamate binding, MIM: 277450</li><li>R->C at 476: in PXE-like disorder with multiple coagulation factor deficiency, MIM: 610842</li><li>R->H at 476: in PXE-like disorder with multiple coagulation factor deficiency, MIM: 610842</li><li>R->P at 485: in VKCFD1, MIM: 277450</li><li>W->S at 493: in PXE-like disorder with multiple coagulation factor deficiency, MIM: 610842</li><li>W->S at 501: in VKCFD1; dbSNP:rs28928872, MIM: 277450</li><li>G->R at 558: in PXE-like disorder with multiple coagulation factor deficiency, MIM: 610842</li>	coagulation	GO:0050817	glutamate binding	GO:0016595				<li>PXE-like disorder with multiple coagulation factor deficiency [MIM:610842]</li><li>Combined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1) [MIM:277450]</li>	<li>rs699664</li><li>rs28928872</li>	2
P38571	3988		<li>T->P at 16: in dbSNP:rs1051338</li><li>G->R at 23: in dbSNP:rs1051339</li><li>V->L at 29: in dbSNP:rs17850891</li><li>H->P at 129: in CESD, MIM: 278000</li><li>H->R at 129: in CESD, MIM: 278000</li><li>L->P at 200: in CESD and WOD, MIM: 278000</li><li>F->S at 228: in dbSNP:rs2228159, MIM: 278000</li>								<li>Wolman disease (WOD) [MIM:278000]</li><li>Cholesteryl ester storage disease (CESD) [MIM:278000]</li>	<li>rs17850891</li><li>rs2228159</li><li>rs1051338</li><li>rs1051339</li>	2
P38646	3313		<li>Q->R at 74: in dbSNP:rs17856004</li><li>R->G at 127: in dbSNP:rs35091799</li><li>H->Y at 184</li><li>A->G at 225: in dbSNP:rs34558740</li>									<li>rs35091799</li><li>rs34558740</li><li>rs17856004</li>	2
P38935			<li>A->T at 75: in dbSNP:rs2228206</li><li>L->P at 192: in HMN6, MIM: 604320</li><li>S->L at 201: in dbSNP:rs560096, MIM: 604320</li><li>H->R at 213: in HMN6, MIM: 604320</li><li>T->A at 221: in HMN6, MIM: 604320</li><li>C->R at 241: in HMN6, MIM: 604320</li><li>I->V at 275: in dbSNP:rs10896380, MIM: 604320</li><li>E->K at 334: in HMN6, MIM: 604320</li><li>L->P at 361: in HMN6, MIM: 604320</li><li>L->P at 364: in HMN6, MIM: 604320</li><li>E->K at 382: in HMN6, MIM: 604320</li><li>L->P at 426: in HMN6, MIM: 604320</li><li>E->K at 514: in HMN6, MIM: 604320</li><li>P->A at 557: in dbSNP:rs7122089, MIM: 604320</li><li>D->N at 565: in HMN6, MIM: 604320</li><li>Missing  at 572: in HMN6, MIM: 604320</li><li>L->P at 577: in HMN6, MIM: 604320</li><li>V->I at 580: in HMN6, MIM: 604320</li><li>N->I at 583: in HMN6, MIM: 604320</li><li>G->C at 586: in HMN6, MIM: 604320</li><li>R->H at 603: in HMN6, MIM: 604320</li><li>R->C at 637: in HMN6, MIM: 604320</li><li>T->A at 671: in dbSNP:rs622082, MIM: 604320</li><li>R->W at 694: in dbSNP:rs2236654, MIM: 604320</li><li>T->K at 879: in HMN6; dbSNP:rs17612126, MIM: 604320</li><li>E->K at 928: in dbSNP:rs2275996, MIM: 604320</li><li>D->E at 974: in HMN6, MIM: 604320</li>								Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	<li>rs2275996</li><li>rs7122089</li><li>rs10896380</li><li>rs2236654</li><li>rs622082</li><li>rs560096</li><li>rs2228206</li>	2
P39019	6223		<li>V->F at 15: in DBA, MIM: 105650</li><li>A->P at 17: in DBA, MIM: 105650</li><li>L->P at 18: in DBA, MIM: 105650</li><li>L->R at 18: in DBA, MIM: 105650</li><li>P->L at 47: in DBA, MIM: 105650</li><li>W->R at 52: in DBA, MIM: 105650</li><li>T->M at 55: in DBA, MIM: 105650</li><li>R->Q at 56: in DBA, MIM: 105650</li><li>Missing  at 58-60: in DBA, MIM: 105650</li><li>S->F at 59: in DBA, MIM: 105650</li><li>A->E at 61: in DBA, MIM: 105650</li><li>R->Q at 62: in DBA, MIM: 105650</li><li>R->W at 62: in DBA, MIM: 105650</li><li>R->H at 101: in DBA, MIM: 105650</li><li>G->R at 120: in DBA, MIM: 105650</li><li>L->P at 131: in DBA, MIM: 105650</li><li>L->R at 131: in DBA, MIM: 105650</li>								Diamond-Blackfan anemia (DBA) [MIM:105650]		2
P39023	6122		<li>I->T at 78: in dbSNP:rs11548004</li>									rs11548004	2
P39059	1306		<li>R->H at 163: in dbSNP:rs2075662</li><li>M->V at 204: in dbSNP:rs2075663</li><li>T->M at 391: in dbSNP:rs10988532</li><li>A->T at 442: in dbSNP:rs16918128</li><li>G->R at 446: in dbSNP:rs35934703</li><li>G->V at 504: in dbSNP:rs2297603</li><li>E->D at 506: in dbSNP:rs35250850</li><li>P->R at 531: in dbSNP:rs35529307</li><li>K->R at 989: in dbSNP:rs35642150</li><li>K->R at 1001: in dbSNP:rs35544077</li><li>V->I at 1332: in dbSNP:rs10519</li>									<li>rs35642150</li><li>rs35934703</li><li>rs16918128</li><li>rs10519</li><li>rs35544077</li><li>rs2075663</li><li>rs35529307</li><li>rs10988532</li><li>rs2075662</li><li>rs35250850</li><li>rs2297603</li>	2
P39060	80781		<li>Q->L at 49</li><li>G->R at 111</li><li>V->I at 1076</li><li>P->R at 1121</li><li>D->N at 1675: decreased activity for binding laminin; increased risk of developing prostate cancer; in compound heterozygotes may cause Knobloch syndrome when in combination with a frameshift/truncating mutation</li>			binding	GO:0005488						2
P39086	2897		<li>A->V at 332</li><li>Q->R at 636: in RNA edited version</li><li>I->V at 757: in dbSNP:rs363494</li><li>R->Q at 862</li><li>A->V at 870: in dbSNP:rs363503</li><li>L->S at 902: in dbSNP:rs363504</li>									<li>rs363494</li><li>rs363503</li><li>rs363504</li>	2
P39210	4358		<li>R->Q at 50: in MDS and NN; may cause protein instability and decay, MIM: 256810</li><li>R->W at 50: in MDS, MIM: 251880</li><li>N->K at 166: in MDS, MIM: 251880</li>								<li>Hepatocerebral mitochondrial DNA depletion syndrome (MDS) [MIM:251880]</li><li>Navajo neurohepatopathy (NN) [MIM:256810]</li>		2
P39656	1650		<li>R->G at 8: in dbSNP:rs537816</li>									rs537816	2
P39900	4321		<li>N->S at 357: in dbSNP:rs652438</li><li>G->R at 469</li>									rs652438	2
P39905	2668		<li>P->S at 21: in HSCR; could be a polymorphism, MIM: 142623</li><li>R->W at 93: in HSCR and CCHS; associated to a RET mutation; could be an extremely rare polymorphism: in dbSNP rsrs36119840, MIM: 142623</li><li>D->N at 150: in HSCR; could be a polymorphism, MIM: 142623</li><li>T->S at 154: in HSCR; sporadic form, MIM: 142623</li><li>I->M at 211: in HSCR, MIM: 142623</li>							P07949	<li>Congenital central hypoventilation syndrome (CCHS) [MIM:209880]</li><li>Hirschsprung disease (HSCR) [MIM:142623]</li>	rs36119840	2
P40121			<li>V->I at 41: in dbSNP:rs2229668</li><li>R->W at 198: in dbSNP:rs11539103</li><li>R->H at 335: in dbSNP:rs6886</li>									<li>rs11539103</li><li>rs6886</li><li>rs2229668</li>	2
P40123	10486		<li>T->A at 311: in dbSNP:rs34620829</li><li>Y->C at 316: in dbSNP:rs34206659</li>									<li>rs34206659</li><li>rs34620829</li>	2
P40145	114		<li>A->T at 80: in dbSNP:rs2228949</li><li>F->L at 881: in a colorectal cancer sample; somatic mutation</li>									rs2228949	2
P40199			<li>V->G at 239: in dbSNP:rs11548735</li>									rs11548735	2
P40200	10225		<li>A->P at 142: in dbSNP:rs2276872</li><li>T->M at 280: in C-like syndrome, MIM: 605039</li>								C-like syndrome [MIM:605039]	rs2276872	2
P40225	7066		<li>L->P at 14: in dbSNP:rs1042346</li><li>G->E at 116: in dbSNP:rs1126665</li>									<li>rs1042346</li><li>rs1126665</li>	2
P40227	908		<li>Y->C at 229: in dbSNP:rs33922584</li>									rs33922584	2
P40238	4352		<li>K->N at 39: in dbSNP:rs17292650</li><li>A->V at 58: in dbSNP:rs6087</li><li>V->M at 114: in dbSNP:rs12731981</li><li>E->K at 168: in dbSNP:rs6088</li>									<li>rs12731981</li><li>rs17292650</li><li>rs6087</li><li>rs6088</li>	2
P40305	3429		<li>S->F at 106: in dbSNP:rs2227974</li>									rs2227974	2
P40313	1506		<li>T->I at 150: in dbSNP:rs11552953</li><li>H->R at 173: in dbSNP:rs1134760</li>									<li>rs11552953</li><li>rs1134760</li>	2
P40394			<li>G->A at 80: in dbSNP:rs1573496</li>									rs1573496	2
P40617	10124		<li>R->K at 139: in dbSNP:rs2953325</li>									rs2953325	2
P40692	4292		<li>R->C at 18: in HNPCC2, MIM: 609310</li><li>I->F at 19: in HNPCC2; uncertain pathogenicity, MIM: 609310</li><li>A->V at 21: in HNPCC2, MIM: 609310</li><li>G->A at 22: in dbSNP:rs41295280, MIM: 609310</li><li>I->F at 25: in HNPCC2, MIM: 609310</li><li>P->L at 28: in HNPCC2, MIM: 609310</li><li>A->S at 29: in HNPCC2; could be a polymorphism; has no effect on ex vivo splicing assay, MIM: 609310</li><li>I->V at 32: in dbSNP:rs2020872, MIM: 609310</li><li>M->K at 35: in HNPCC2; uncertain pathogenicity, MIM: 609310</li><li>M->N at 35: in MMRCS; requires 2 nucleotide substitutions, MIM: 609310</li><li>M->R at 35: in HNPCC2, MIM: 609310</li><li>E->ELNH at 37: in endometrial cancer; somatic mutation, MIM: 609310</li><li>N->H at 38: in HNPCC2, MIM: 609310</li><li>D->G at 41: in HNPCC2, MIM: 609310</li><li>D->H at 41: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310</li><li>S->F at 44: in HNPCC2; the equivalent substitution in yeast causes loss of function in a mismatch repair assay; has no effect on ex vivo splicing assay, MIM: 609310</li><li>TSI->CF at 45-47: in HNPCC2, MIM: 609310</li><li>G->E at 54: in CRC; sporadic; somatic mutation, MIM: 609310</li><li>Q->K at 62: in HNPCC2; reduced repair efficiency in a yeast mismatch repair assay, MIM: 609310</li><li>D->E at 63: in HNPCC2, MIM: 609310</li><li>N->S at 64: in HNPCC2, MIM: 609310</li><li>G->E at 67: in CRC, MIM: 609310</li><li>G->R at 67: in HNPCC2; the equivalent substitution in yeast causes loss of function in a mismatch repair assay; has no effect on ex vivo splicing assay, MIM: 609310</li><li>G->W at 67: in HNPCC2, MIM: 609310</li><li>I->N at 68: in HNPCC2; the equivalent substitution in yeast causes loss of function in a mismatch repair assay, MIM: 609310</li><li>R->K at 69: in HNPCC2; reduced repair efficiency in a mismatch repair assay, MIM: 609310</li><li>Missing  at 71: in HNPCC2, MIM: 609310</li><li>C->R at 77: in HNPCC2 and CRC; sporadic; normal interaction with PMS2; loss of function in a mismatch repair assay, MIM: 609310</li><li>C->Y at 77: in CRC; sporadic; early onset, MIM: 609310</li><li>F->V at 80: in HNPCC2, MIM: 609310</li><li>K->E at 84: in HNPCC2, MIM: 609310</li><li>S->G at 93: common polymorphism; normal interaction with PMS2; no functional alteration detected by an in vitro mismatch repair assay; dbSNP:rs41295282, MIM: 609310</li><li>G->S at 98: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310</li><li>G->D at 101: in HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310</li><li>G->S at 101: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310</li><li>E->K at 102: in HNPCC2; uncertain pathogenicity, MIM: 609310</li><li>S->R at 106: in gastric cancer; uncertain pathogenicity, MIM: 609310</li><li>I->R at 107: in HNPCC2; normal interaction with PMS2; loss of function in a mismatch repair assay, MIM: 609310</li><li>H->Q at 109: in gastric cancer; uncertain pathogenicity, MIM: 609310</li><li>A->V at 111: in HNPCC2; uncertain pathogenicity, MIM: 609310</li><li>T->K at 116: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310</li><li>T->M at 117: in HNPCC2; fails to interact with PMS2 and EXO1; loss of function in a mismatch repair assay; has no effect on ex vivo splicing assay, MIM: 609310</li><li>T->R at 117: in HNPCC2; equivalent substitution in yeast causes loss of function in mismatch repair assay, MIM: 609310</li><li>Y->N at 126: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310</li><li>A->P at 128: in HNPCC2, MIM: 609310</li><li>D->H at 132: in CRC; sporadic; susceptibility to; ATPase function attenuated but not eliminated: in dbSNP rsrs28930073, MIM: 609310</li><li>L->R at 155: in HNPCC2, MIM: 609310</li><li>R->G at 182: in HNPCC2; incomplete, MIM: 609310</li><li>R->K at 182: in HNPCC2, MIM: 609310</li><li>V->G at 185: in HNPCC2; defective in a mismatch repair assay; has no effect on ex vivo splicing assay, MIM: 609310</li><li>V->L at 185: in HNPCC2; could be a polymorphism, MIM: 609310</li><li>S->P at 193: in HNPCC2, MIM: 609310</li><li>V->M at 213: associated with HNPCC2; has no effect on ex vivo splicing assay; dbSNP:rs2308317, MIM: 609310</li><li>N->S at 215: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310</li><li>I->S at 216: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310</li><li>R->C at 217: in HNPCC2; could be a polymorphism; proficient in a mismatch repair assay; dbSNP:rs4986984, MIM: 609310</li><li>R->G at 217, MIM: 609310</li><li>I->V at 219: common polymorphism; found in 37% of alleles; dbSNP:rs1799977, MIM: 609310</li><li>Missing  at 226-295: in HNPCC2, MIM: 609310</li><li>R->L at 226: in HNPCC2, MIM: 609310</li><li>E->G at 234: in HNPCC2; uncertain pathogenicity, MIM: 609310</li><li>G->D at 244: in HNPCC2; defective in a mismatch repair assay, MIM: 609310</li><li>G->V at 244: in CRC; sporadic; somatic mutation; could be a polymorphism, MIM: 609310</li><li>S->P at 247: in HNPCC2, MIM: 609310</li><li>L->F at 260: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310</li><li>L->R at 260: in CRC, MIM: 609310</li><li>Missing  at 262: in HNPCC2, MIM: 609310</li><li>H->Y at 264: in HNPCC2, MIM: 609310</li><li>R->C at 265: associated with HNPCC2; results in partial exon 10 skipping on ex vivo splicing assay, MIM: 609310</li><li>R->H at 265: rare polymorphism; associated with HNPCC2; slightly lower mismatch repair efficiency; results in partial exon 10 skipping on ex vivo splicing assay, MIM: 609310</li><li>E->G at 268: in CRC, MIM: 609310</li><li>A->G at 282: in HNPCC2, MIM: 609310</li><li>L->P at 292: in HNPCC2; uncertain pathogenicity, MIM: 609310</li><li>S->T at 295: in HNPCC2, MIM: 609310</li><li>D->V at 304: in HNPCC2, MIM: 609310</li><li>P->S at 309, MIM: 609310</li><li>E->D at 320: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310</li><li>S->I at 321: in HNPCC2; uncertain pathogenicity, MIM: 609310</li><li>Missing  at 325-327: in colorectal cancer, MIM: 609310</li><li>R->Q at 325: in CRC; sporadic; somatic mutation; could be a polymorphism, MIM: 609310</li><li>V->A at 326: in HNPCC2; proficient in a mismatch repair assay, MIM: 609310</li><li>H->P at 329: in HNPCC2, MIM: 609310</li><li>Missing  at 330: in HNPCC2; results in weak exon 11 skipping on ex vivo splicing assay, MIM: 609310</li><li>N->S at 338: in HNPCC2, MIM: 609310</li><li>Y->C at 379: in HNPCC2, MIM: 609310</li><li>V->D at 384: could be a non-fonctional polymorphism associated with HNPCC confined to East Asian population, MIM: 609310</li><li>R->C at 385: in HNPCC2; uncertain pathogenicity, MIM: 609310</li><li>R->P at 385: in HNPCC2; uncertain pathogenicity, MIM: 609310</li><li>S->N at 406: in dbSNP:rs41294980, MIM: 609310</li><li>A->T at 441: in HNPCC2, MIM: 609310</li><li>K->Q at 443: in dbSNP:rs34213726, MIM: 609310</li><li>R->I at 472: in CRC; uncertain pathogenicity, MIM: 609310</li><li>R->Q at 474: in HNPCC2; has no effect on ex vivo splicing assay; uncertain pathogenicity, MIM: 609310</li><li>R->W at 474: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310</li><li>D->E at 485: in HNPCC2, MIM: 609310</li><li>D->H at 485: in HNPCC2; uncertain pathogenicity, MIM: 609310</li><li>A->T at 492: in HNPCC2 and CRC; sporadic, MIM: 609310</li><li>V->A at 506: in HNPCC2, MIM: 609310</li><li>A->D at 539: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310</li><li>Q->L at 542: in HNPCC2; type II; equivalent substitution in yeast causes loss of function in a mismatch repair assay, MIM: 609310</li><li>Q->P at 542: in HNPCC2, MIM: 609310</li><li>L->P at 549: in HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310</li><li>L->P at 550: in HNPCC2, MIM: 609310</li><li>N->T at 551: in HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310</li><li>L->R at 559: in HNPCC2, MIM: 609310</li><li>I->F at 565: in HNPCC2, MIM: 609310</li><li>L->P at 574: in HNPCC2; type I; abrogates interaction with EXO1, MIM: 609310</li><li>E->G at 578: in HNPCC2 and CRC, MIM: 609310</li><li>L->V at 582: in HNPCC2; type II, MIM: 609310</li><li>L->R at 585: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310</li><li>A->P at 586: in HNPCC2, MIM: 609310</li><li>L->P at 588: in HNPCC2, MIM: 609310</li><li>A->D at 589: in HNPCC2, MIM: 609310</li><li>Missing  at 596: in HNPCC2, MIM: 609310</li><li>D->G at 601: in CRC; uncertain pathogenicity, MIM: 609310</li><li>P->R at 603: in HNPCC2; suspected; could be a polymorphism; has no effect on ex vivo splicing assay; dbSNP:rs35831931, MIM: 609310</li><li>L->H at 607: in LCIS and HNPCC2; could be a polymorphism;; has no effect on ex vivo splicing assay; could determine an increased risk of colon cancer; dbSNP:rs41295284, MIM: 609310</li><li>Missing  at 612: in HNPCC2, MIM: 609310</li><li>Missing  at 616: in HNPCC2 and Turcot syndrome; abrogates interaction with EXO1; has no effect on ex vivo splicing assay, MIM: 609310</li><li>K->A at 618: common polymorphism; requires 2 nucleotide substitutions, MIM: 609310</li><li>K->R at 618: in colorectal cancer, MIM: 609310</li><li>K->T at 618: in HNPCC2; type II, MIM: 609310</li><li>Missing  at 618: in HNPCC2, MIM: 609310</li><li>A->P at 619: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310</li><li>L->H at 622: in HNPCC2, MIM: 609310</li><li>A->P at 623: in HNPCC2; uncertain pathogenicity, MIM: 609310</li><li>FS->ST at 626-627: in HNPCC2, MIM: 609310</li><li>D->A at 631: in HNPCC2; uncertain pathogenicity, MIM: 609310</li><li>N->K at 635: in gastric cancer; uncertain pathogenicity, MIM: 609310</li><li>L->P at 636: in HNPCC2, MIM: 609310</li><li>P->L at 640: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310</li><li>P->S at 640: in HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310</li><li>Y->C at 646: in HNPCC2; could be a common polymorphism; dbSNP:rs35045067, MIM: 609310</li><li>P->L at 648: in HNPCC2, MIM: 609310</li><li>P->S at 648: in HNPCC2; protein unstable but still functional in mismatch repair, MIM: 609310</li><li>P->L at 654: in HNPCC2, MIM: 609310</li><li>I->V at 655: in endometrial cancer; also associated with HNPCC2; has no effect on ex vivo splicing assay; dbSNP:rs55907433, MIM: 608089</li><li>F->S at 656: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 608089</li><li>Missing  at 657: in HNPCC2; uncertain pathogenicity, MIM: 608089</li><li>R->L at 659: in HNPCC2, MIM: 609310</li><li>R->P at 659: in HNPCC2; interacts only very weakly with PMS2; equivalent substitution in yeast causes almost complete loss of function in a mismatch repair assay; abrogates interaction with EXO1, MIM: 609310</li><li>R->Q at 659, MIM: 609310</li><li>T->P at 662: in HNPCC2; could be a rare polymorphism, MIM: 609310</li><li>W->R at 666: associated with HNPCC2; has no effect on ex vivo splicing assay, MIM: 609310</li><li>A->T at 681: in HNPCC2; could be a common polymorphism; equivalent substitution in yeast does not affect mismatch repair; abrogates interaction with EXO1, MIM: 609310</li><li>R->W at 687: in HNPCC2; uncertain pathogenicity, MIM: 609310</li><li>Q->R at 689: in HNPCC; suspected; could be a polymorphism, MIM: 609310</li><li>V->M at 716: in dbSNP:rs35831931, MIM: 609310</li><li>H->Y at 718: in HNPCC2; could be a polymorphism; dbSNP:rs2020873, MIM: 609310</li><li>I->INVFHI at 719: in HNPCC2, MIM: 609310</li><li>L->M at 724: in HNPCC2, MIM: 609310</li><li>L->V at 729: in dbSNP:rs1800149, MIM: 609310</li><li>L->P at 749: in colorectal cancer, MIM: 609310</li><li>K->R at 751: in HNPCC2; could be a polymorphism, MIM: 609310</li><li>R->W at 755: in HNPCC; incomplete, MIM: 609310</li>	mismatch repair	GO:0006298					<li>P38920</li><li>Q8L925</li><li>P39875</li><li>P54278</li><li>Q9UQ84</li><li>Q02216</li><li>P16960</li>	<li>Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]</li><li>Endometrial cancer [MIM:608089]</li>	<li>rs35831931</li><li>rs1799977</li><li>rs41294980</li><li>rs4986984</li><li>rs28930073</li><li>rs2020872</li><li>rs2020873</li><li>rs41295284</li><li>rs41295282</li><li>rs35045067</li><li>rs1800149</li><li>rs41295280</li><li>rs2308317</li><li>rs55907433</li><li>rs34213726</li>	2
P40763	6774		<li>Q->K at 32: in dbSNP:rs1803125</li><li>M->I at 143: in dbSNP:rs17878478</li><li>R->L at 382: in AD-HIES, MIM: 147060</li><li>R->Q at 382: in AD-HIES; loss of function, MIM: 147060</li><li>R->W at 382: in AD-HIES; loss of function, MIM: 147060</li><li>F->L at 384: in AD-HIES, MIM: 147060</li><li>F->S at 384: in AD-HIES, MIM: 147060</li><li>T->I at 389: in AD-HIES; loss of function, MIM: 147060</li><li>R->Q at 423: in AD-HIES, MIM: 147060</li><li>H->Y at 437: in AD-HIES; loss of function, MIM: 147060</li><li>Missing  at 463: in AD-HIES; loss of function, MIM: 147060</li><li>F->Y at 561: in dbSNP:rs1064116, MIM: 147060</li><li>S->N at 611: in AD-HIES, MIM: 147060</li><li>F->V at 621: in AD-HIES, MIM: 147060</li><li>T->I at 622: in AD-HIES, MIM: 147060</li><li>V->L at 637: in AD-HIES, MIM: 147060</li><li>V->M at 637: in AD-HIES, MIM: 147060</li><li>Missing  at 644: in AD-HIES, MIM: 147060</li><li>Y->C at 657: in AD-HIES, MIM: 147060</li>								Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]	<li>rs1064116</li><li>rs1803125</li><li>rs17878478</li>	2
P40818	9101		<li>D->G at 443: in dbSNP:rs3743044</li><li>T->A at 739: in dbSNP:rs11638390</li><li>A->G at 827: in dbSNP:rs1056577</li>									<li>rs11638390</li><li>rs3743044</li><li>rs1056577</li>	2
P40879	1811		<li>R->Q at 68: in dbSNP:rs10280704</li><li>G->S at 120: in CLD, MIM: 214700</li><li>H->L at 124: in CLD, MIM: 214700</li><li>P->R at 131: in CLD, MIM: 214700</li><li>S->P at 206: in CLD, MIM: 214700</li><li>C->W at 307: probable polymorphism: in dbSNP rsrs34407351, MIM: 214700</li><li>Missing  at 317: in CLD, MIM: 214700</li><li>D->V at 468: in CLD, MIM: 214700</li><li>Missing  at 527: in CLD, MIM: 214700</li><li>R->Q at 554: in dbSNP:rs2301635, MIM: 214700</li><li>N->S at 753: in dbSNP:rs35342296, MIM: 214700</li>								Congenital chloride diarrhea (CLD) [MIM:214700]	<li>rs10280704</li><li>rs34407351</li><li>rs35342296</li><li>rs2301635</li>	2
P40926	4191		<li>A->V at 9: in dbSNP:rs17849553</li>									rs17849553	2
P40937	5985		<li>A->T at 13: in dbSNP rsrs5745796</li>									rs5745796	2
P40938	5983		<li>L->V at 16: in dbSNP:rs3135533</li>									rs3135533	2
P40939	3030		<li>V->D at 282: in TFP deficiency; mild phenotype with slowly progressive myopathy and sensorimotor polyneuropathy, MIM: 609015</li><li>I->N at 305: in TFP deficiency; mild phenotype with slowly progressive myopathy and sensorimotor polyneuropathy, MIM: 609015</li><li>L->P at 342: in LCHAD deficiency, MIM: 609016</li><li>Q->K at 358: in dbSNP:rs10200182, MIM: 609016</li><li>E->Q at 510: in AFLP and LCHAD deficiency; loss of activity, MIM: 609016</li>							<li>P10274</li><li>P0C210</li><li>Q09SZ9</li><li>Q0R5R3</li><li>P03353</li><li>Q9HCM9</li><li>P14074</li>	<li>Trifunctional protein deficiency (TFP deficiency) [MIM:609015]</li><li>Maternal acute fatty liver of pregnancy (AFLP) [MIM:609016]</li><li>Long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency) [MIM:609016]</li>	rs10200182	2
P40967	6490		<li>P->H at 320: in dbSNP:rs2071024</li><li>E->D at 370: in dbSNP:rs17118154</li>									<li>rs17118154</li><li>rs2071024</li>	2
P41091	1968		<li>K->R at 125: in dbSNP:rs16997659</li>									rs16997659	2
P41134	3397		<li>N->D at 63: in dbSNP:rs1802548</li>									rs1802548	2
P41143	4985		<li>F->C at 27: in dbSNP:rs1042114</li>									rs1042114	2
P41145	4986		<li>D->N at 374: in dbSNP:rs9282808</li>									rs9282808	2
P41159	3952		<li>Missing  at 49: in 30% the clones</li><li>V->M at 94: in dbSNP:rs17151919</li><li>R->W at 105: in morbid obesity and hypogonadism</li><li>V->M at 110: in dbSNP:rs1800564</li>									<li>rs17151919</li><li>rs1800564</li>	2
P41161	2119		<li>K->R at 348: in dbSNP:rs2228269</li>									rs2228269	2
P41180	846		<li>P->A at 39: in FHH, MIM: 145980</li><li>R->M at 62: in FHH and NSHPT; mild, MIM: 239200</li><li>R->C at 66: in FHH, MIM: 145980</li><li>A->T at 116: in FIH, MIM: 146200</li><li>E->A at 127: in ADH, MIM: 146200</li><li>T->M at 138: in FHH, MIM: 145980</li><li>G->E at 143: in FHH, MIM: 145980</li><li>L->R at 174: in FHH, MIM: 145980</li><li>R->Q at 185: in FHH, MIM: 145980</li><li>R->L at 227: in NSHPT: in dbSNP rsrs28936684, MIM: 239200</li><li>R->Q at 227: in FHH, MIM: 145980</li><li>E->K at 297: in FHH and NSHPT, MIM: 239200</li><li>G->E at 557: in FHH, MIM: 145980</li><li>C->Y at 582: in NSHPT, MIM: 239200</li><li>L->V at 616: in FIH, MIM: 146200</li><li>Q->H at 681: in FIH, MIM: 146200</li><li>E->K at 767: in ADH, MIM: 146200</li><li>R->W at 795: in FHH, MIM: 145980</li><li>F->S at 806: in FIH, MIM: 146200</li><li>C->S at 851, MIM: 146200</li><li>P->T at 951: in dbSNP:rs4987051, MIM: 146200</li><li>A->S at 986: in dbSNP:rs1801725, MIM: 146200</li><li>R->G at 990: in dbSNP:rs1042636, MIM: 146200</li><li>Q->E at 1011: in dbSNP:rs1801726, MIM: 146200</li>							<li>Q24857</li><li>P81786</li><li>P0A9Q7</li><li>P42327</li><li>P0A9Q8</li><li>Q24803</li><li>P33744</li><li>P06525</li><li>Q9NAR7</li><li>P17648</li><li>P48977</li><li>Q04983</li>	<li>Autosomal dominant hypoparathyroidism (FIH) [MIM:146200]</li><li>Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]</li><li>Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]</li>	<li>rs1042636</li><li>rs4987051</li><li>rs1801725</li><li>rs28936684</li><li>rs1801726</li>	2
P41214	1939		<li>T->I at 210: in dbSNP:rs35252702</li>									rs35252702	2
P41217	4345		<li>C->S at 11: in dbSNP:rs1131199</li><li>P->T at 46: in dbSNP:rs2272022</li>									<li>rs2272022</li><li>rs1131199</li>	2
P41218	4332		<li>S->R at 156: in dbSNP:rs35417083</li><li>V->L at 286: in dbSNP:rs1056771</li><li>H->Y at 357: in dbSNP:rs2276403</li>									<li>rs1056771</li><li>rs2276403</li><li>rs35417083</li>	2
P41222	5730		<li>R->Q at 56: in dbSNP:rs11552179</li>									rs11552179	2
P41225	6658		<li>A->T at 43</li><li>A->AAAAAAAA at 248: in PHPX; reduced transcriptional activity and impaired nuclear localization</li><li>A->AAAAAAAAAAAA at 248: in MRXGH</li>	localization	GO:0051179								2
P41226	7318		<li>P->S at 712: in dbSNP:rs11928913</li><li>H->R at 817: in dbSNP:rs2230149</li>									<li>rs2230149</li><li>rs11928913</li>	2
P41235	3172		<li>R->W at 136: in MODY1, MIM: 125850</li><li>T->I at 139: in dbSNP:rs1800961, MIM: 125850</li><li>V->M at 264: in late-onset NIDDM, MIM: 125850</li><li>E->Q at 285: in MODY1, MIM: 125850</li><li>V->I at 402: in MODY1; reduced transactivation activity, MIM: 125850</li><li>P->S at 445: in dbSNP:rs1063239, MIM: 125850</li>								Maturity onset diabetes of the young type 1 (MODY1) [MIM:125850]	<li>rs1800961</li><li>rs1063239</li>	2
P41238	339		<li>M->I at 80: in dbSNP:rs2302515</li><li>R->K at 236: in dbSNP:rs12820011</li>									<li>rs12820011</li><li>rs2302515</li>	2
P41247	8228		<li>V->G at 48: in dbSNP:rs17856615</li><li>V->I at 113: in dbSNP:rs2231791</li><li>D->G at 134: in dbSNP:rs17851825</li><li>R->Q at 187: in dbSNP:rs2231793</li>									<li>rs17851825</li><li>rs2231791</li><li>rs17856615</li><li>rs2231793</li>	2
P41250	2617		<li>A->P at 42: in dbSNP:rs1049402</li><li>E->G at 125: in CMT2D; phenotype overlapping with DSMA-V: in dbSNP rsrs28936972, MIM: 601472</li><li>L->P at 183: in DSMA-V, MIM: 600794</li><li>T->I at 268: in dbSNP:rs2230310, MIM: 600794</li><li>G->R at 294: in CMT2D: in dbSNP rsrs28937322, MIM: 601472</li><li>R->Q at 388: in dbSNP:rs17159287, MIM: 601472</li><li>G->R at 580: in DSMA-V: in dbSNP rsrs28937323, MIM: 600794</li>								<li>Charcot-Marie-Tooth disease type 2D (CMT2D) [MIM:601472]</li><li>Distal spinal muscular atrophy type V (DSMA-V) [MIM:600794]</li>	<li>rs17159287</li><li>rs1049402</li><li>rs28936972</li><li>rs2230310</li><li>rs28937323</li><li>rs28937322</li>	2
P41273	8744		<li>P->A at 17: in dbSNP:rs442511</li>									rs442511	2
P41279	1326		<li>S->F at 214: in dbSNP:rs3087944</li><li>CQSLDSALLERKRLL at 398-415: in oncogenic form</li><li>Missing  at 416-467: in oncogenic form</li>									rs3087944	2
P41440	6573		<li>H->R at 27: in dbSNP:rs1051266</li><li>A->V at 558: in dbSNP:rs35786590</li>									<li>rs1051266</li><li>rs35786590</li>	2
P41567	10209		<li>L->P at 59: in dbSNP:rs3390</li><li>R->G at 90: in dbSNP:rs3387</li>									<li>rs3390</li><li>rs3387</li>	2
P41587	7434		<li>A->T at 39: in dbSNP:rs1062609</li><li>R->H at 412: in dbSNP:rs1042620</li>									<li>rs1062609</li><li>rs1042620</li>	2
P41597	1231		<li>L->V at 45: in dbSNP:rs4987052</li><li>V->I at 64: confers relative resistance to infection by HIV-1; delay in disease progression in African Americans but not in Caucasians; dbSNP:rs1799864</li><li>G->E at 355: in dbSNP:rs3918387</li>									<li>rs3918387</li><li>rs4987052</li><li>rs1799864</li>	2
P41732	7102		<li>E->K at 53: in dbSNP:rs17851592</li><li>A->T at 127: in dbSNP:rs17851593</li><li>P->H at 172: in MRX58, MIM: 300210</li>								Mental retardation X-linked type 58 (MRX58) [MIM:300210]	<li>rs17851593</li><li>rs17851592</li>	2
P41968	4159		<li>T->K at 6: have ligand binding and signaling properties similar to wild-type; dbSNP:rs3746619</li><li>V->I at 81: have ligand binding and signaling properties similar to wild-type; dbSNP:rs3827103</li><li>I->N at 183: associated with susceptibility to obesity; completely lacks signaling in response to agonist stimulation; coexpression of the wild-type and the mutant receptor shows that it does not exert dominant-negative activity on wild-type</li><li>I->S at 335: associated with susceptibility to obesity; in vitro expression studies demonstrate that the mutation causes complete loss of function; transfected cells show diffuse cytoplasmic staining indicating intracellular retention of the receptor</li>			binding	GO:0005488	intracellular	GO:0005622			<li>rs3746619</li><li>rs3827103</li>	2
P41970	2004		<li>P->L at 169: in dbSNP:rs35332676</li>									rs35332676	2
P42025	10120		<li>V->A at 93: in dbSNP:rs11547231</li><li>A->V at 143: in dbSNP:rs11692435</li>									<li>rs11692435</li><li>rs11547231</li>	2
P42081	942		<li>S->N at 170: in dbSNP:rs9282642</li><li>I->V at 185: in dbSNP:rs2681417</li><li>A->T at 310: in dbSNP:rs1129055</li><li>D->N at 323: in dbSNP:rs9282648</li>									<li>rs9282642</li><li>rs9282648</li><li>rs2681417</li><li>rs1129055</li>	2
P42127	434		<li>V->A at 13: in dbSNP:rs2296151</li><li>Q->P at 61: in dbSNP:rs1129414</li>									<li>rs2296151</li><li>rs1129414</li>	2
P42166	7112		<li>L->R at 238: in dbSNP:rs35998138</li><li>S->A at 293: in dbSNP:rs35645287</li><li>T->S at 317: in dbSNP:rs35969221</li><li>K->E at 416: in dbSNP:rs11838270</li><li>K->N at 478: in dbSNP:rs35761089</li><li>Q->E at 599: in dbSNP:rs17459334</li><li>R->C at 690: in dbSNP:rs17028450</li>									<li>rs35761089</li><li>rs11838270</li><li>rs35969221</li><li>rs17028450</li><li>rs17459334</li><li>rs35998138</li><li>rs35645287</li>	2
P42167	7112		<li>A->P at 287: in dbSNP:rs7133258</li><li>L->F at 427: in dbSNP:rs1058288</li>									<li>rs1058288</li><li>rs7133258</li>	2
P42229	6776		<li>R->H at 389: in dbSNP:rs2230134</li>									rs2230134	2
P42261	2890		<li>D->N at 487: in dbSNP:rs13166146</li><li>P->T at 521: in dbSNP:rs13166161</li><li>A->S at 536: in dbSNP:rs13166438</li><li>I->M at 548: in dbSNP:rs13186241</li><li>F->L at 588: in dbSNP:rs13186534</li>									<li>rs13186241</li><li>rs13166438</li><li>rs13166161</li><li>rs13186534</li><li>rs13166146</li>	2
P42262	2891		<li>Q->R at 607: in RNA edited version: in dbSNP rsrs17850674</li><li>Q->R at 608: in dbSNP:rs17850675</li>									<li>rs17850674</li><li>rs17850675</li>	2
P42263			<li>R->Q at 450: in MRX94, MIM: 300699</li><li>F->L at 525: in dbSNP:rs1052538, MIM: 300699</li><li>R->S at 631: in MRX94; homomers have minimal or no current; heteromers have altered desensitization kinetics, MIM: 300699</li><li>M->T at 706: in MRX94; homomers have minimal or no current; heteromers have altered desensitization kinetics, MIM: 300699</li><li>G->R at 833: in MRX94; reduced receptor expression possibly due to rapid degradation, MIM: 300699</li>								Mental retardation X-linked type 94 (MRX94) [MIM:300699]	rs1052538	2
P42285	23517		<li>A->P at 346: in dbSNP:rs35643285</li>									rs35643285	2
P42331	9938		<li>R->W at 185: in dbSNP:rs3749130</li><li>R->S at 548: in dbSNP:rs4241344</li><li>M->T at 549: in dbSNP:rs10177248</li>									<li>rs4241344</li><li>rs10177248</li><li>rs3749130</li>	2
P42336	5290		<li>R->H at 38: in cancer; shows an increase in lipid kinase activity</li><li>I->V at 43: in dbSNP:rs1051399</li><li>R->Q at 88: in cancer</li><li>G->V at 106: in cancer; shows an increase in lipid kinase activity</li><li>S->R at 332: in dbSNP:rs1051407</li><li>Y->C at 343: in cancer</li><li>I->M at 391: in dbSNP:rs3729680</li><li>C->R at 420: in cancer; shows an increase in lipid kinase activity</li><li>E->Q at 453: in cancer; shows an increase in lipid kinase activity</li><li>E->K at 542: in cancer; shows an increase in lipid kinase activity; oncogenic in vivo</li><li>E->Q at 542: in cancer</li><li>E->V at 542: in cancer</li><li>E->A at 545: in cancer</li><li>E->G at 545: in cancer</li><li>E->K at 545: in cancer; shows an increase in lipid kinase activity; oncogenic in vivo</li><li>Q->E at 546: in cancer</li><li>Q->K at 546: in cancer</li><li>Q->P at 546: in cancer</li><li>Q->R at 546: in cancer</li><li>G->R at 1007: in cancer</li><li>Y->C at 1021: in cancer</li><li>Y->H at 1021: in cancer</li><li>Y->N at 1021: in cancer</li><li>R->Q at 1023: in cancer</li><li>T->N at 1025: in cancer</li><li>A->V at 1035: in cancer</li><li>M->I at 1043: in cancer; shows an increase in lipid kinase activity</li><li>H->L at 1047: in cancer</li><li>H->R at 1047: in cancer; shows an increase in lipid kinase activity; oncogenic in vivo</li><li>H->Y at 1047: in cancer</li><li>G->D at 1050: in cancer</li><li>T->K at 1052: in cancer</li><li>H->L at 1065: in cancer</li><li>H->Y at 1065: in cancer</li>			lipid kinase activity	GO:0001727					<li>rs1051407</li><li>rs3729680</li><li>rs1051399</li>	2
P42338	5291		<li>Q->H at 672: in dbSNP:rs2230462</li>									rs2230462	2
P42345	2475		<li>A->S at 8: in a lung large cell carcinoma sample; somatic mutation</li><li>M->T at 135: in a metastatic melanoma sample; somatic mutation</li><li>M->V at 1083: in dbSNP rsrs56164650</li><li>A->V at 1134: in dbSNP rsrs28730685</li><li>S->F at 1178: in dbSNP rsrs55975118</li><li>M->V at 2011: in an ovarian mucinous carcinoma sample; somatic mutation</li><li>S->Y at 2215: in a colorectal adenocarcinoma sample; somatic mutation</li><li>P->L at 2476: in a glioblastoma multiforme sample; somatic mutation</li>									<li>rs55975118</li><li>rs56164650</li><li>rs28730685</li>	2
P42356	5297		<li>M->V at 322: in dbSNP:rs17819211</li>									rs17819211	2
P42357	3034		<li>R->T at 206: in histidinemia, MIM: 235800</li><li>R->L at 208: in histidinemia, MIM: 235800</li><li>P->L at 259: in histidinemia, MIM: 235800</li><li>R->P at 322: in histidinemia, MIM: 235800</li><li>V->I at 439: in dbSNP:rs7297245, MIM: 235800</li>								Histidinemia [MIM:235800]	rs7297245	2
P42574	836		<li>H->R at 22: in dbSNP:rs35578277</li><li>E->D at 190: in dbSNP rsrs1049210</li>									<li>rs35578277</li><li>rs1049210</li>	2
P42658	1804		<li>L->P at 854: in dbSNP:rs3734960</li>									rs3734960	2
P42679	4145		<li>A->T at 354: in an ovarian mucinous carcinoma sample; somatic mutation</li><li>A->T at 496: in dbSNP:rs35351680</li><li>R->Q at 503: in a colorectal adenocarcinoma sample; somatic mutation</li>									rs35351680	2
P42680	7006		<li>R->Q at 44: in dbSNP rsrs35374286</li><li>R->K at 563: in a lung adenocarcinoma sample; somatic mutation</li>									rs35374286	2
P42681	7294		<li>R->H at 45: in dbSNP:rs7658300</li><li>R->C at 63: in dbSNP rsrs41265727</li><li>R->Q at 336: in dbSNP:rs11724347</li>									<li>rs11724347</li><li>rs7658300</li><li>rs41265727</li>	2
P42684	27		<li>K->R at 930: in dbSNP:rs17277288</li><li>V->M at 946: in dbSNP:rs28913889</li><li>P->R at 996: in dbSNP:rs28913890</li><li>S->N at 1085: in dbSNP:rs28913891</li><li>T->A at 1101: in dbSNP:rs28913892</li>									<li>rs17277288</li><li>rs28913889</li><li>rs28913890</li><li>rs28913892</li><li>rs28913891</li>	2
P42685	2444		<li>I->V at 100: in dbSNP rsrs34704018</li><li>G->R at 122: in dbSNP:rs3756772</li><li>S->L at 133: in dbSNP:rs34064900</li>									<li>rs3756772</li><li>rs34704018</li><li>rs34064900</li>	2
P42695	23310		<li>R->Q at 622: in dbSNP:rs12292394</li><li>P->T at 907: in dbSNP:rs34739733</li><li>S->R at 1034: in dbSNP:rs7927108</li>									<li>rs12292394</li><li>rs34739733</li><li>rs7927108</li>	2
P42701	3594		<li>P->Q at 3: in dbSNP rsrs17884651</li><li>P->S at 47: in dbSNP rsrs17887176</li><li>R->H at 156: in dbSNP:rs11575926</li><li>R->W at 213: in MSMD, MIM: 209950</li><li>Q->R at 214: in dbSNP:rs11575934, MIM: 209950</li><li>H->Q at 339: in dbSNP rsrs17884957, MIM: 209950</li><li>M->T at 365: in dbSNP:rs375947, MIM: 209950</li><li>G->R at 378: in dbSNP:rs401502, MIM: 209950</li>								Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]	<li>rs11575934</li><li>rs17887176</li><li>rs17884957</li><li>rs17884651</li><li>rs401502</li><li>rs11575926</li><li>rs375947</li>	2
P42702	3977		<li>H->Y at 116: in dbSNP:rs3729734</li><li>S->P at 279: in SWS, MIM: 601559</li><li>D->N at 578: in dbSNP:rs3729740, MIM: 601559</li><li>I->M at 633: in dbSNP:rs2303743, MIM: 601559</li><li>S->L at 664: in dbSNP:rs3729744, MIM: 601559</li><li>V->I at 785: in dbSNP:rs3110234, MIM: 601559</li><li>F->L at 1068: in a colorectal cancer sample; somatic mutation, MIM: 601559</li>								Stueve-Wiedemann syndrome (SWS) [MIM:601559]	<li>rs2303743</li><li>rs3729740</li><li>rs3729734</li><li>rs3110234</li><li>rs3729744</li>	2
P42704	10128		<li>A->V at 354: in LSFC, MIM: 220111</li><li>T->A at 478: in dbSNP:rs35035668, MIM: 220111</li>								Leigh syndrome French-Canadian type (LSFC) [MIM:220111]	rs35035668	2
P42765	10449		<li>M->V at 217: in dbSNP:rs11549285</li>									rs11549285	2
P42768	7454		<li>L->F at 27: in XLT</li><li>Missing  at 30: in XLT</li><li>E->K at 31: in WAS, MIM: 301000</li><li>C->W at 43: in WAS; moderate form, MIM: 301000</li><li>T->M at 45: in WAS and XLT, MIM: 301000</li><li>T->I at 48: in XLT, MIM: 301000</li><li>Q->H at 52: in WAS, MIM: 301000</li><li>A->V at 56: in XLT, MIM: 301000</li><li>P->L at 58: in WAS, MIM: 301000</li><li>P->R at 58: in XLT: in dbSNP rsrs28935178, MIM: 301000</li><li>G->W at 70: in WAS, MIM: 301000</li><li>C->R at 73: in WAS; severe form, MIM: 301000</li><li>V->M at 75: in XLT, MIM: 301000</li><li>S->P at 82: in WAS; attenuated form, MIM: 301000</li><li>Y->C at 83: in XLT, MIM: 301000</li><li>F->L at 84: in WAS; severe form, MIM: 301000</li><li>R->C at 86: in WAS, MIM: 301000</li><li>R->H at 86: in WAS, MIM: 301000</li><li>R->L at 86: in WAS, MIM: 301000</li><li>G->D at 89: in WAS; mild form, MIM: 301000</li><li>W->C at 97: in WAS; attenuated form, MIM: 301000</li><li>E->K at 131: in WAS, MIM: 301000</li><li>E->K at 133: in WAS; severe form, MIM: 301000</li><li>A->T at 134: in WAS, MIM: 301000</li><li>G->C at 187: in WAS, MIM: 301000</li><li>A->E at 236: in XLT, MIM: 301000</li><li>L->P at 270: in XLN; a constitutively activating mutation: in dbSNP rsrs28936079, MIM: 300299</li><li>K->E at 476: in WAS, MIM: 301000</li><li>R->K at 477: in XLT, MIM: 301000</li><li>I->N at 481: in XLT, MIM: 301000</li>								<li>X-linked severe congenital neutropenia (XLN) [MIM:300299]</li><li>Wiskott-Aldrich syndrome (WAS) [MIM:301000]</li>	<li>rs28935178</li><li>rs28936079</li>	2
P42771	1029		<li>D->E at 14: in a biliary tract tumor</li><li>L->P at 16: in a biliary tract tumor and a familial melanoma</li><li>A->P at 20: in a lung tumor and melanoma</li><li>A->S at 20: in a biliary tract tumor</li><li>G->D at 23: in a pancreas tumor</li><li>R->C at 24: in melanoma</li><li>R->P at 24: in CMM2 and melanoma, MIM: 155601</li><li>E->D at 26: in a biliary tract tumor, MIM: 155601</li><li>L->P at 32: in CMM2, MIM: 155601</li><li>E->D at 33: in a biliary tract tumor, MIM: 155601</li><li>G->A at 35: in CMM2 and a biliary tract tumor, MIM: 155601</li><li>G->E at 35: in melanoma, MIM: 155601</li><li>P->L at 48: in melanoma and a head and neck tumor; somatic mutation, MIM: 155601</li><li>I->S at 49: in a biliary tract tumor, MIM: 155601</li><li>I->T at 49, MIM: 155601</li><li>Q->R at 50: in CMM2, MIM: 155601</li><li>M->I at 53: in CMM2, MIM: 155601</li><li>S->I at 56: possible polymorphism, MIM: 155601</li><li>A->V at 57: in pancreas carcinoma; somatic mutation, MIM: 155601</li><li>R->Q at 58: in dbSNP:rs36204273, MIM: 155601</li><li>V->G at 59: in CMM2, MIM: 155601</li><li>A->T at 60, MIM: 155601</li><li>A->V at 60: in dbSNP:rs36204594, MIM: 155601</li><li>EL->DV at 61-62, MIM: 155601</li><li>L->P at 62: in familial melanoma, MIM: 155601</li><li>H->Y at 66: in non-small cell lung carcinoma, MIM: 155601</li><li>A->L at 68: in familial melanoma; requires 2 nucleotide substitutions, MIM: 155601</li><li>A->T at 68: in an esophagus tumor, MIM: 155601</li><li>A->V at 68, MIM: 155601</li><li>E->K at 69: in a bladder tumor, MIM: 155601</li><li>E->V at 69: in a lung tumor, MIM: 155601</li><li>N->K at 71: in familial melanoma, MIM: 155601</li><li>N->S at 71, MIM: 155601</li><li>C->G at 72: in an esophagus tumor, MIM: 155601</li><li>D->N at 74: in a bladder tumor, MIM: 155601</li><li>D->V at 74: in a biliary tract tumor, MIM: 155601</li><li>R->L at 80: in a head and neck tumor, MIM: 155601</li><li>P->L at 81: in melanoma; impairs the function; dbSNP:rs11552823, MIM: 155601</li><li>H->N at 83: in a lung tumor, MIM: 155601</li><li>H->Q at 83: in dbSNP:rs34968276, MIM: 155601</li><li>H->Y at 83: in a pancreas and a head and neck tumor, MIM: 155601</li><li>D->E at 84: in a bladder tumor, MIM: 155601</li><li>D->H at 84: in non-small cell lung carcinoma, MIM: 155601</li><li>D->N at 84: in an esophagus, a head and neck and a lung tumor, MIM: 155601</li><li>D->Y at 84: in CMM2; also found in a lung and a prostate tumor; dbSNP:rs11552822, MIM: 155601</li><li>A->T at 85, MIM: 155601</li><li>R->P at 87: in CMM2; impairs the function, MIM: 155601</li><li>R->W at 87: in CMM2, MIM: 155601</li><li>E->D at 88: in a biliary tract tumor, MIM: 155601</li><li>G->D at 89: in melanoma; somatic mutation, MIM: 155601</li><li>G->S at 89: in melanoma, MIM: 155601</li><li>T->A at 93: in non-small cell lung carcinoma, MIM: 155601</li><li>L->Q at 94: in melanoma, MIM: 155601</li><li>V->A at 95: in non-small cell lung carcinoma, MIM: 155601</li><li>L->R at 97: possible polymorphism, MIM: 155601</li><li>H->P at 98: in melanoma, MIM: 155601</li><li>H->Q at 98: in melanoma, MIM: 155601</li><li>R->P at 99: in familial melanoma, MIM: 155601</li><li>R->Q at 99: in non-small cell lung carcinoma, MIM: 155601</li><li>R->W at 99: in dbSNP:rs34886500, MIM: 155601</li><li>A->L at 100: in melanoma; requires 2 nucleotide substitutions, MIM: 155601</li><li>A->P at 100, MIM: 155601</li><li>G->W at 101: in CMM2 and FAMMMPC; impairs the function, MIM: 606719</li><li>A->E at 102: in LFS; somatic mutation, MIM: 151623</li><li>A->T at 102: in dbSNP:rs35741010, MIM: 151623</li><li>Missing at 104-105, MIM: 151623</li><li>R->C at 107: in CMM2, MIM: 155601</li><li>R->H at 107, MIM: 155601</li><li>D->H at 108: in a bladder tumor, MIM: 155601</li><li>D->Y at 108: in a head and neck tumor, MIM: 155601</li><li>R->RR at 112: in CMM2, MIM: 155601</li><li>P->L at 114: in non-small cell lung carcinoma, MIM: 155601</li><li>L->M at 117: in melanoma; somatic mutation, MIM: 155601</li><li>A->T at 118: in CMM2, MIM: 155601</li><li>E->Q at 119: in a biliary tract tumor, MIM: 155601</li><li>E->A at 120: in non-small cell lung carcinoma, MIM: 155601</li><li>E->K at 120: in non-small cell lung carcinoma, MIM: 155601</li><li>G->R at 122: in CMM2, MIM: 155601</li><li>G->S at 122: in a biliary tract tumor, MIM: 155601</li><li>H->Q at 123: in leukemia; dbSNP:rs6413463, MIM: 155601</li><li>R->C at 124: in dbSNP:rs34170727, MIM: 155601</li><li>R->H at 124: in an esophagus tumor, MIM: 155601</li><li>V->D at 126: in CMM2; impairs the function, MIM: 155601</li><li>A->S at 127: in squamous cell carcinoma; dbSNP:rs6413464, MIM: 155601</li><li>A->P at 132: in non-small cell lung carcinoma, MIM: 155601</li><li>A->V at 134: in non-small cell lung carcinoma, MIM: 155601</li><li>H->Y at 142: in non-small cell lung carcinoma, MIM: 155601</li><li>R->C at 144: in squamous cell carcinoma, MIM: 155601</li><li>A->T at 148: in dbSNP:rs3731249, MIM: 155601</li><li>G->V at 150: in non-small cell lung carcinoma, MIM: 155601</li>							P59082	<li>Li-Fraumeni syndrome (LFS) [MIM:151623]</li><li>Cutaneous malignant melanoma 2 (CMM2) [MIM:155601]</li><li>Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome (FAMMMPC) [MIM:606719]</li>	<li>rs11552822</li><li>rs34886500</li><li>rs3731249</li><li>rs36204273</li><li>rs6413464</li><li>rs34968276</li><li>rs34170727</li><li>rs6413463</li><li>rs11552823</li><li>rs35741010</li><li>rs36204594</li>	2
P42772	1030		<li>G->E at 47: in lung adenocarcinoma</li><li>A->V at 50: in lung adenocarcinoma</li>										2
P42773	1031		<li>A->P at 72: in breast cancer; loss of CDK6 interaction</li><li>T->M at 126: in dbSNP:rs17851380</li>							Q00534		rs17851380	2
P42785	5547		<li>E->D at 112: in dbSNP:rs2298668</li><li>T->S at 444: in dbSNP:rs2228312</li>									<li>rs2298668</li><li>rs2228312</li>	2
P42858	3064		<li>Missing at 38-40</li><li>E->A at 1384: in dbSNP:rs3025837</li>									rs3025837	2
P42892	1889	<ul><li>C->S at 428: Abolishes dimerization</li></ul>	<li>T->I at 341: in dbSNP:rs1076669</li><li>W->R at 630: in dbSNP:rs2229451</li><li>R->C at 754: in Hirschsprung disease: in dbSNP rsrs3026906</li>									<li>rs3026906</li><li>rs2229451</li><li>rs1076669</li>	3
P42898	4524		<li>R->P at 51: in MTHFRD, MIM: 236250</li><li>R->Q at 52: in MTHFRD, MIM: 236250</li><li>R->Q at 68: in dbSNP:rs2066472, MIM: 236250</li><li>R->Q at 157: in MTHFRD, MIM: 236250</li><li>A->V at 222: common polymorphism; thermolabile; 50% reduced activity; at homozygosity reduces the risk for colorectal cancer in individuals with adequate folate status; decreased risk for adult acute leukemia; increased risk for folate-sensitive NTD; dbSNP:rs1801133, MIM: 236250</li><li>T->M at 227: in MTHFRD, MIM: 236250</li><li>P->L at 251: in MTHFRD, MIM: 236250</li><li>L->P at 323: in MTHFRD, MIM: 236250</li><li>N->S at 324: in MTHFRD, MIM: 236250</li><li>R->C at 325: in MTHFRD, MIM: 236250</li><li>R->C at 335: in MTHFRD, MIM: 236250</li><li>W->G at 339: in MTHFRD, MIM: 236250</li><li>R->C at 357: in MTHFRD, MIM: 236250</li><li>R->C at 377: in MTHFRD, MIM: 236250</li><li>G->D at 387: in MTHFRD, MIM: 236250</li><li>G->R at 422: in dbSNP:rs45571736, MIM: 236250</li><li>E->A at 428: common polymorphism; thermolabile; decreased activity: in dbSNP rsrs1801131, MIM: 236250</li><li>E->A at 429: common polymorphism; thermolabile; decreased activity; decreased risk for adult acute leukemia; dbSNP:rs1801131, MIM: 236250</li><li>E->A at 470, MIM: 236250</li><li>R->C at 519: in dbSNP rsrs45496998, MIM: 236250</li><li>R->H at 519: in dbSNP:rs45449298, MIM: 236250</li><li>G->E at 566: in dbSNP:rs2274974, MIM: 236250</li><li>P->L at 572: in MTHFRD, MIM: 236250</li><li>E->K at 586: in MTHFRD, MIM: 236250</li><li>R->Q at 594: in dbSNP:rs2274976, MIM: 236250</li><li>T->M at 653: in dbSNP:rs35737219, MIM: 236250</li>								Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	<li>rs45571736</li><li>rs1801131</li><li>rs45496998</li><li>rs1801133</li><li>rs35737219</li><li>rs2066472</li><li>rs2274976</li><li>rs2274974</li><li>rs45449298</li>	2
P43003	6507		<li>E->D at 219: in dbSNP:rs2032892</li><li>P->R at 290: in EA6, MIM: 600111</li>								Episodic ataxia type 6 (EA6) [MIM:600111]	rs2032892	2
P43005	6505		<li>A->G at 27: in dbSNP:rs2229885</li><li>F->Y at 50: in dbSNP:rs16921449</li>									<li>rs2229885</li><li>rs16921449</li>	2
P43007	6509		<li>G->R at 37: in dbSNP:rs1064512</li><li>V->I at 399: in dbSNP:rs759458</li>									<li>rs1064512</li><li>rs759458</li>	2
P43026	8200		<li>R->G at 163: in dbSNP:rs34534075</li><li>M->V at 173: in BDC; dbSNP:rs28936397, MIM: 113100</li><li>S->A at 276: in dbSNP:rs224331, MIM: 113100</li><li>L->R at 373: in SYM1; the mature GDF5 protein is detected as the wild-type in the supernatant derived from the mutant transfected cells, MIM: 185800</li><li>R->Q at 378: in Du Pan syndrome, MIM: 228900</li><li>R->Q at 380: in BDA2; reduces activity; impairs processing, MIM: 112600</li><li>C->Y at 400: in AMDG, MIM: 200700</li><li>P->T at 436: in Du Pan syndrome, MIM: 228900</li><li>Missing  at 437: in Du Pan syndrome; located on the same allele as T-439 and L-440, MIM: 228900</li><li>R->L at 438: in SYNS2 and SYM1; increased biologic activity when compared to wild-type; normal binding to BMPR1B ectodomain but increased binding to that of BMPR1A, MIM: 185800</li><li>S->T at 439: in Du Pan syndrome; located on the same allele as L-437 del and L-440, MIM: 228900</li><li>H->L at 440: in Du Pan syndrome; located on the same allele as L-437 del and T-439, MIM: 228900</li><li>L->P at 441: in Du Pan syndrome and BDA2; the mutant is almost inactive; loss of binding to BMPR1A and BMPR1B ectodomains; dbSNP:rs28936683, MIM: 228900</li><li>S->N at 475: in SYNS2, MIM: 610017</li><li>E->K at 491: in SYM1, MIM: 185800</li>			binding	GO:0005488			<li>Q4P9K6</li><li>P36894</li><li>Q6FXJ3</li><li>Q6BMY0</li><li>Q6CAW5</li><li>Q4IPX8</li><li>Q754F0</li><li>P43026</li><li>Q59Q43</li><li>O00238</li><li>Q05438</li><li>Q06563</li><li>Q5KND6</li><li>Q6CIY7</li>	<li>Multiple synostoses syndrome 2 (SYNS2) [MIM:610017]</li><li>Du Pan syndrome [MIM:228900]</li><li>Brachydactyly type C (BDC) [MIM:113100]</li><li>Brachydactyly type A2 (BDA2) [MIM:112600]</li><li>Symphalangism proximal syndrome (SYM1) [MIM:185800]</li><li>Acromesomelic chondrodysplasia Grebe type (AMDG) [MIM:200700]</li>	<li>rs224331</li><li>rs28936397</li><li>rs34534075</li><li>rs28936683</li>	2
P43034	5048		<li>F->S at 31: in LIS1, MIM: 607432</li><li>H->R at 149: in LIS1; abrogates interaction with NDE1 and reduces neuronal migration in vitro, MIM: 607432</li><li>G->S at 162: in LIS1; dbSNP:rs28936410, MIM: 607432</li><li>S->P at 169: in SBH; abrogates interaction with NDE1 and reduces neuronal migration in vitro, MIM: 607432</li><li>R->P at 241: in SBH; somatic mosaicism in 18% of lymphocytes and 21% of hair root cells: in dbSNP rsrs28936411, MIM: 607432</li><li>H->P at 277: in LIS1, MIM: 607432</li><li>D->H at 317: in LIS1; reduces neuronal migration in vitro: in dbSNP rsrs28936689, MIM: 607432</li>	neuronal migration	GO:0001764					<li>Q4I877</li><li>Q9NXR1</li><li>Q5REG7</li><li>Q8HXX0</li><li>Q9GL51</li><li>Q4P0N6</li><li>P43033</li><li>P43034</li><li>Q5KBH9</li><li>Q9PTR5</li><li>Q5IS43</li><li>Q5ZMC9</li><li>Q6C3S1</li><li>P25087</li>	<li>Lissencephaly type 1 (LIS1) [MIM:607432]</li><li>Subcortical band heterotopia (SBH) [MIM:607432]</li>	<li>rs28936689</li><li>rs28936410</li><li>rs28936411</li>	2
P43080	2978		<li>P->L at 50: in COD3; some subjects may present a moderately severe cone-rod dystrophy; causes a decrease in the number of bound calcium ions from 3 to 2, without changing the activity profile, MIM: 602093</li><li>Y->C at 99: in COD3; type 1A; alters calcium ion sensitivity, leading to the constitutive stimulating activity of GC1 at high calcium ion concentration, where normal GUCA1A inhibits it, MIM: 602093</li><li>E->G at 155: in COD3; constitutive activation of GC1, MIM: 602093</li>							<li>O73761</li><li>P53079</li><li>P43080</li><li>Q9H936</li><li>P79880</li><li>P46065</li>	Cone dystrophy type 3 (COD3) [MIM:602093]		2
P43115	5733		<li>M->L at 169: in dbSNP:rs5670</li><li>T->M at 319: in dbSNP:rs13306020</li><li>N->S at 366: in dbSNP:rs13306014</li><li>P->L at 375: in dbSNP:rs5694</li>									<li>rs5670</li><li>rs13306020</li><li>rs5694</li><li>rs13306014</li>	2
P43121	4162		<li>E->G at 89: in dbSNP:rs34587557</li>									rs34587557	2
P43146	1630		<li>M->T at 168: in a esophageal carcinoma</li><li>R->G at 201: in dbSNP:rs2229080</li><li>M->V at 1017: in dbSNP:rs984274</li><li>F->S at 1039: in a colorectal cancer sample; somatic mutation</li><li>P->H at 1375: in a colorectal carcinoma</li>									<li>rs2229080</li><li>rs984274</li>	2
P43220	2740		<li>P->L at 7: in dbSNP:rs10305420</li><li>R->K at 20: in dbSNP:rs10305421</li><li>R->H at 44: in dbSNP:rs2295006</li><li>R->Q at 131: in dbSNP:rs3765467</li><li>G->S at 168: in dbSNP:rs6923761</li><li>F->L at 260: in dbSNP:rs1042044</li><li>A->T at 316: in dbSNP:rs10305492</li><li>S->C at 333: in dbSNP:rs10305493</li><li>R->Q at 421: in dbSNP:rs10305510</li>									<li>rs10305510</li><li>rs2295006</li><li>rs1042044</li><li>rs6923761</li><li>rs10305493</li><li>rs3765467</li><li>rs10305421</li><li>rs10305492</li><li>rs10305420</li>	2
P43235	1513		<li>G->E at 79: in PKND, MIM: 265800</li><li>G->R at 146: in PKND, MIM: 265800</li><li>A->V at 277: in PKND, MIM: 265800</li><li>L->P at 309: in PKND: in dbSNP rsrs29001685, MIM: 265800</li>								Pycnodysostosis (PKND) [MIM:265800]	rs29001685	2
P43251	686		<li>F->V at 128: in BTD deficiency, MIM: 253260</li><li>A->T at 171: in BTD deficiency: in dbSNP rsrs13073139, MIM: 253260</li><li>D->Y at 228: in BTD deficiency, MIM: 253260</li><li>H->R at 323: in BTD deficiency; partial, MIM: 253260</li><li>D->H at 444: in BTD deficiency; profound and partial; 52% decrease in activity: in dbSNP rsrs13078881, MIM: 253260</li><li>G->D at 451: in BTD deficiency; partial, MIM: 253260</li><li>Q->H at 456: in BTD deficiency, MIM: 253260</li><li>T->M at 532: in BTD deficiency, MIM: 253260</li><li>R->C at 538: in BTD deficiency, MIM: 253260</li>							<li>P43251</li><li>Q8AV84</li>	Biotinidase deficiency (BTD deficiency) [MIM:253260]	<li>rs13078881</li><li>rs13073139</li>	2
P43268	2118		<li>R->C at 437: in dbSNP:rs34260468</li>									rs34260468	2
P43304	2820		<li>R->H at 264: in dbSNP:rs2116665</li><li>K->Q at 453: in dbSNP:rs35096779</li><li>R->H at 525: in dbSNP:rs1051916</li>									<li>rs1051916</li><li>rs35096779</li><li>rs2116665</li>	2
P43307	6745		<li>L->S at 28: in dbSNP:rs10004</li>									rs10004	2
P43320	1415		<li>A->S at 65: in dbSNP:rs16986560</li>									rs16986560	2
P43351	5893		<li>R->W at 70: in dbSNP rsrs11571421</li><li>Q->E at 221: in dbSNP:rs4987206</li><li>S->N at 287: in dbSNP:rs11571463</li>									<li>rs11571463</li><li>rs4987206</li><li>rs11571421</li>	2
P43358			<li>G->D at 153: in a breast cancer sample; somatic mutation</li><li>T->A at 173: in dbSNP:rs1047251</li>									rs1047251	2
P43359	4104		<li>Q->H at 29: in dbSNP:rs188387</li>									rs188387	2
P43360	4105		<li>S->I at 152: in dbSNP:rs7056365</li>									rs7056365	2
P43361	4107		<li>R->H at 121: in dbSNP:rs35744768</li><li>S->F at 306: in dbSNP:rs12010332</li>									<li>rs35744768</li><li>rs12010332</li>	2
P43363	4109		<li>K->R at 166: in dbSNP:rs210585</li><li>I->V at 234: in dbSNP:rs210586</li>									<li>rs210586</li><li>rs210585</li>	2
P43364	4110		<li>S->R at 191: in dbSNP:rs2233049</li>									rs2233049	2
P43365	4111		<li>E->D at 57: in dbSNP:rs16996512</li>									rs16996512	2
P43366	4112		<li>R->C at 267: in dbSNP:rs7062640</li>									rs7062640	2
P43405	6850		<li>R->H at 45: in dbSNP:rs16906862</li>									rs16906862	2
P43487	5902		<li>E->D at 16: in a breast cancer sample; somatic mutation</li><li>A->V at 145: in dbSNP:rs5746863</li>									rs5746863	2
P43489	7293		<li>R->C at 10: in dbSNP rsrs35304565</li>									rs35304565	2
P43490	10135		<li>L->S at 176: in a colorectal cancer sample; somatic mutation</li>										2
P43626			<li>V->F at 5</li><li>P->R at 37</li><li>P->L at 135</li><li>P->T at 175</li><li>D->N at 184</li><li>H->R at 203</li><li>K->E at 237</li><li>R->C at 266</li>										2
P43627			<li>R->P at 37: in dbSNP:rs613240</li>									rs613240	2
P43628	3804		<li>V->A at 9: in dbSNP rsrs3810343</li><li>L->R at 32</li><li>H->Q at 34</li><li>P->R at 37: in dbSNP:rs613240</li><li>Q->E at 56: in dbSNP rsrs35719984</li><li>F->Y at 66: in dbSNP:rs673568</li><li>H->R at 71</li><li>P->L at 229: in dbSNP rsrs35861855</li><li>R->I at 242</li><li>A->T at 304: in dbSNP:rs4020187</li><li>R->H at 318: in dbSNP:rs1049267</li>									<li>rs35719984</li><li>rs613240</li><li>rs673568</li><li>rs1049267</li><li>rs35861855</li><li>rs4020187</li><li>rs3810343</li>	2
P43629	3811		<li>S->L at 2: in dbSNP:rs605219</li><li>L->F at 13: in dbSNP rsrs1142881</li><li>M->V at 23: in dbSNP rsrs1142882,rs62623407</li><li>I->V at 68: in dbSNP:rs45556431</li><li>I->L at 75: in dbSNP:rs1049150</li><li>P->S at 203: in dbSNP:rs2273731</li><li>P->L at 220: in dbSNP:rs680891</li><li>G->R at 259: in dbSNP:rs1049215</li><li>S->C at 333</li><li>L->R at 362: in dbSNP:rs1130468</li><li>E->Q at 394: in dbSNP:rs1130513</li>									<li>rs2273731</li><li>rs1130468</li><li>rs1130513</li><li>rs45556431</li><li>rs605219</li><li>rs1049150</li><li>rs680891</li><li>rs62623407</li><li>rs1049215</li><li>rs1142881</li><li>rs1142882</li>	2
P43630	3812		<li>P->A at 40</li><li>L->V at 113: in dbSNP:rs17412418</li><li>P->T at 132: in dbSNP:rs3745894</li><li>E->D at 158: in dbSNP rsrs1048270</li><li>R->H at 166: in dbSNP rsrs1048271</li><li>A->P at 228</li><li>I->T at 252</li><li>T->M at 397: in dbSNP:rs3745902</li><li>K->Q at 439: in dbSNP:rs3745903</li>									<li>rs1048270</li><li>rs3745894</li><li>rs3745902</li><li>rs17412418</li><li>rs3745903</li><li>rs1048271</li>	2
P43631	100132285		<li>K->E at 237: in dbSNP:rs2262065</li>									rs2262065	2
P43632	3809		<li>K->M at 65: in dbSNP:rs1130480</li><li>N->D at 68: in dbSNP:rs1130481</li><li>H->R at 71: in dbSNP:rs1130482</li><li>P->R at 89: in dbSNP:rs1130487</li><li>P->H at 92: in dbSNP:rs1143508</li><li>V->D at 93: in dbSNP:rs1130491</li><li>S->C at 103: in dbSNP:rs10406301</li>									<li>rs1143508</li><li>rs1130487</li><li>rs1130482</li><li>rs1130480</li><li>rs1130481</li><li>rs1130491</li><li>rs10406301</li>	2
P43652	173		<li>T->S at 404: in dbSNP:rs2276444</li>									rs2276444	2
P43657	10161		<li>I->V at 33: in dbSNP:rs1060585</li><li>D->V at 63: in ARWH, MIM: 278150</li><li>C->W at 137: in dbSNP:rs4151553, MIM: 278150</li><li>I->F at 188: in ARWH, MIM: 278150</li><li>E->K at 189: in ARWH, MIM: 278150</li><li>W->C at 307: in dbSNP:rs17071686, MIM: 278150</li>								Autosomal recessive woolly hair (ARWH) [MIM:278150]	<li>rs1060585</li><li>rs4151553</li><li>rs17071686</li>	2
P43681	1137		<li>S->F at 280: in ENFL1, MIM: 600513</li><li>S->L at 280: in ENFL1, MIM: 600513</li><li>E->G at 387: in dbSNP:rs45604738, MIM: 600513</li><li>S->L at 517: in dbSNP:rs45622132, MIM: 600513</li>								Nocturnal frontal lobe epilepsy type 1 (ENFL1) [MIM:600513]	<li>rs45622132</li><li>rs45604738</li>	2
P43694	2626		<li>S->F at 52: in ASD2, MIM: 607941</li><li>G->S at 296: in ASD2, MIM: 607941</li><li>S->G at 377: in dbSNP:rs3729856, MIM: 607941</li>								Atrial septal defect type 2 (ASD2) [MIM:607941]	rs3729856	2
P43699	7080		<li>V->F at 205: in CHNRD, MIM: 610978</li><li>W->L at 208: in BHC; dbSNP:rs28936672, MIM: 118700</li><li>R->S at 213: in BHC; dbSNP:rs28936671, MIM: 118700</li>							<li>P02717</li><li>P02718</li><li>P09691</li>	<li>Benign hereditary chorea (BHC) [MIM:118700]</li><li>Choreoathetosis, hypothyroidism, and neonatal respiratory distress (CHNRD) [MIM:610978]</li>	<li>rs28936672</li><li>rs28936671</li>	2
P45378	7140		<li>R->H at 74: in DA2B, MIM: 601680</li>								Distal arthrogryposis type 2B (DA2B) [MIM:601680]		2
P45379	7139		<li>F->L at 80: in CMH2, MIM: 115195</li><li>I->N at 89: in CMH2, MIM: 115195</li><li>R->L at 102: in CMH2, MIM: 115195</li><li>R->Q at 102: in CMH2, MIM: 115195</li><li>R->W at 102: in CMH2, MIM: 115195</li><li>R->L at 104: in CMH2, MIM: 115195</li><li>A->V at 114: in CMH2, MIM: 115195</li><li>F->I at 120: in CMH2, MIM: 115195</li><li>F->V at 120: in CMH2, MIM: 115195</li><li>R->K at 139: in dbSNP rsrs2996496, MIM: 115195</li><li>R->C at 140: in CMH2, MIM: 115195</li><li>R->K at 140: in dbSNP:rs2996496, MIM: 115195</li><li>R->W at 141: in CMD1D, MIM: 601494</li><li>R->W at 151: in CMD1D, MIM: 601494</li><li>Missing  at 170: in CMH2, MIM: 601494</li><li>E->K at 173: in CMH2, MIM: 115195</li><li>S->F at 189: in CMH2, MIM: 115195</li><li>Missing  at 210: in CMD1D, MIM: 115195</li><li>R->L at 215: in CMD1D, MIM: 601494</li><li>Missing  at 220: in CMD1D, MIM: 601494</li><li>I->T at 221: in dbSNP:rs45520032, MIM: 601494</li><li>S->T at 249, MIM: 601494</li><li>E->D at 254: in CMH2, MIM: 115195</li><li>K->R at 263, MIM: 115195</li><li>N->Y at 279: in dbSNP:rs4523540, MIM: 115195</li><li>N->I at 281: in CMH2, MIM: 115195</li><li>R->C at 288: in CMH2, MIM: 115195</li><li>R->P at 288: in CMH2, MIM: 115195</li><li>R->C at 296: in CMH2, MIM: 115195</li>								<li>Cardiomyopathy dilated type 1D (CMD1D) [MIM:601494]</li><li>Cardiomyopathy familial hypertrophic type 2 (CMH2) [MIM:115195]</li>	<li>rs4523540</li><li>rs45520032</li><li>rs2996496</li>	2
P45452	4322		<li>H->L at 2: in dbSNP:rs554797</li><li>F->S at 75: in SEMD2; abnormal intracellular autoactivation and autodegradation within the ER/Golgi resulting in the secretion of small and inactive fragments, MIM: 602111</li><li>D->G at 390: in dbSNP:rs17860568, MIM: 602111</li>	secretion	GO:0046903			<li>intracellular</li><li>ER</li>	<li>GO:0005622</li><li>GO:0005783</li>		Spondyloepimetaphyseal dysplasia type 2 (SEMD2) [MIM:602111]	<li>rs554797</li><li>rs17860568</li>	2
P45844	9619		<li>F->L at 668</li>										2
P45877	5480		<li>K->R at 86: in dbSNP:rs34341374</li><li>N->S at 190: in dbSNP:rs451195</li>									<li>rs34341374</li><li>rs451195</li>	2
P45880	7417		<li>A->V at 24</li>										2
P45954	36		<li>R->K at 13: in dbSNP:rs12263012</li><li>S->G at 209: in dbSNP:rs1799823</li><li>L->F at 255: in SBCADD, MIM: 610006</li><li>I->V at 316: in dbSNP:rs1131430, MIM: 610006</li><li>E->G at 376: in dbSNP:rs12357783, MIM: 610006</li>								Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]	<li>rs12357783</li><li>rs1131430</li><li>rs1799823</li><li>rs12263012</li>	2
P45984	5601		<li>V->M at 13: in a colorectal adenocarcinoma sample; somatic mutation</li><li>K->N at 56: in a head & Neck squamous cell carcinoma sample; somatic mutation</li><li>A->T at 246: in dbSNP rsrs35421153</li><li>G->A at 268: in dbSNP rsrs35693958</li><li>R->I at 366: in dbSNP rsrs55736180</li>									<li>rs35693958</li><li>rs55736180</li><li>rs35421153</li>	2
P45985	6416		<li>Q->L at 142: in a lung squamous cell carcinoma sample; somatic mutation</li><li>R->W at 154: in a colorectal adenocarcinoma sample; somatic mutation</li><li>N->I at 234: in an ovarian serous carcinoma sample; somatic mutation</li><li>S->N at 251: in a metastatic melanoma sample; somatic mutation</li><li>A->T at 279: in a colorectal adenocarcinoma sample; somatic mutation</li>										2
P46013	4288		<li>N->S at 104: in dbSNP:rs2071498</li><li>W->R at 238: in dbSNP:rs7095325</li><li>E->D at 497: in dbSNP:rs11016076</li><li>Q->P at 574: in dbSNP:rs4471342</li><li>I->L at 631: in dbSNP:rs997983</li><li>R->W at 832: in dbSNP:rs34916904</li><li>L->V at 854: in dbSNP:rs2240</li><li>A->V at 872: in dbSNP:rs2853344</li><li>G->S at 1042: in dbSNP:rs2152143</li><li>T->S at 1120: in dbSNP:rs11016074</li><li>T->I at 1247: in dbSNP:rs4750685</li><li>E->V at 1403: in dbSNP:rs3740423</li><li>L->W at 1470: in dbSNP:rs2853345</li><li>V->M at 1559: in dbSNP:rs7918199</li><li>P->L at 1622: in dbSNP:rs2782871</li><li>T->A at 1849: in dbSNP:rs2782872</li><li>R->Q at 1876: in dbSNP:rs11591817</li><li>L->I at 1951: in dbSNP:rs34116632</li><li>I->T at 2101: in dbSNP:rs11016073</li><li>T->N at 2337: in dbSNP:rs7083622</li><li>N->S at 2363: in dbSNP:rs7071768</li><li>P->L at 2608: in dbSNP:rs1063535</li><li>R->H at 2649: in dbSNP:rs12777740</li><li>T->P at 2720: in dbSNP:rs1050767</li><li>D->G at 2760: in dbSNP:rs10082391</li><li>R->Q at 2786: in dbSNP:rs10764749</li><li>S->N at 2793: in dbSNP:rs10082533</li><li>R->H at 2845: in dbSNP:rs11016072</li><li>T->S at 2868: in dbSNP:rs2071496</li><li>Q->R at 2904: in dbSNP:rs11016071</li><li>N->D at 3097: in dbSNP:rs2798669</li><li>E->G at 3102: in dbSNP:rs34750407</li><li>T->S at 3150: in dbSNP:rs11106</li><li>K->E at 3217: in dbSNP:rs8473</li>									<li>rs34750407</li><li>rs2782871</li><li>rs2782872</li><li>rs3740423</li><li>rs2071498</li><li>rs11591817</li><li>rs2071496</li><li>rs11016076</li><li>rs7071768</li><li>rs11106</li><li>rs11016074</li><li>rs34116632</li><li>rs11016073</li><li>rs2853344</li><li>rs10764749</li><li>rs2853345</li><li>rs8473</li><li>rs7083622</li><li>rs4471342</li><li>rs11016072</li><li>rs11016071</li><li>rs4750685</li><li>rs7095325</li><li>rs10082533</li><li>rs2152143</li><li>rs2240</li><li>rs1050767</li><li>rs1063535</li><li>rs34916904</li><li>rs10082391</li><li>rs2798669</li><li>rs997983</li><li>rs7918199</li><li>rs12777740</li>	2
P46019	5256		<li>E->Q at 38: in dbSNP:rs17313469</li><li>H->P at 132: in GSD9A; type 2, MIM: 306000</li><li>H->Y at 132: in GSD9A; type 2, MIM: 306000</li><li>Missing  at 141: in GSD9A; type 1, MIM: 306000</li><li>R->C at 186: in GSD9A; type 2, MIM: 306000</li><li>R->H at 186: in GSD9A; type 2, MIM: 306000</li><li>Missing  at 189-190: in GSD9A; type 2, MIM: 306000</li><li>K->E at 189: in GSD9A; type 2, MIM: 306000</li><li>G->V at 193: in GSD9A; type 2, MIM: 306000</li><li>Missing  at 251: in GSD9A; type 2, MIM: 306000</li><li>R->H at 295: in GSD9A; type 1 and type 2, MIM: 306000</li><li>D->G at 299: in GSD9A; type 2, MIM: 306000</li><li>P->S at 399: in GSD9A; type 1, MIM: 306000</li><li>G->R at 416: in dbSNP:rs16980929, MIM: 306000</li><li>Missing  at 818-825: in GSD9A; type 1, MIM: 306000</li><li>NL->I at 953-954: in GSD9A; type 1, MIM: 306000</li><li>R->RTR at 1111: in GSD9A; type 2, MIM: 306000</li><li>T->I at 1114: in GSD9A; type 2, MIM: 306000</li><li>E->K at 1125: in GSD9A; type 1, MIM: 306000</li><li>P->L at 1205: in GSD9A; type 1, MIM: 306000</li><li>G->W at 1207: in GSD9A; type 1, MIM: 306000</li>								Glycogen storage disease type 9A (GSD9A) [MIM:306000]	<li>rs17313469</li><li>rs16980929</li>	2
P46020	5255		<li>D->V at 299: in GSD9D, MIM: 300559</li>								Glycogen storage disease type 9D (GSD9D) [MIM:300559]		2
P46059	6564		<li>V->I at 21</li><li>F->Y at 28: in dbSNP rsrs8187817</li><li>S->N at 117: in dbSNP:rs2297322</li><li>S->R at 117: in dbSNP:rs8187821</li><li>V->M at 122: in dbSNP:rs8187820</li><li>G->A at 419: in dbSNP:rs4646227</li><li>V->I at 450: in dbSNP:rs2274828</li><li>T->N at 451: in dbSNP:rs8187838</li><li>R->C at 459: in dbSNP:rs2274827</li><li>P->S at 537: in dbSNP:rs8187830</li>									<li>rs2297322</li><li>rs2274828</li><li>rs8187817</li><li>rs8187838</li><li>rs4646227</li><li>rs2274827</li><li>rs8187820</li><li>rs8187830</li><li>rs8187821</li>	2
P46087	4839		<li>L->S at 73: in dbSNP:rs1128164</li>									rs1128164	2
P46089	2827		<li>R->H at 222: in dbSNP:rs734852</li>									rs734852	2
P46091	2825		<li>I->V at 307: in dbSNP:rs3732083</li>									rs3732083	2
P46093	2828		<li>S->N at 295: in dbSNP:rs36012326</li>									rs36012326	2
P46100	546		<li>G->E at 175: in ATR-X, MIM: 301040</li><li>Missing  at 178-198: in ATR-X, MIM: 301040</li><li>N->S at 179: in ATR-X, MIM: 301040</li><li>P->A at 190: in ATR-X, MIM: 301040</li><li>P->L at 190: in ATR-X, MIM: 301040</li><li>P->S at 190: in ATR-X, MIM: 301040</li><li>L->F at 192: in ATR-X, MIM: 301040</li><li>V->I at 194: in ATR-X, MIM: 301040</li><li>C->S at 200: in ATR-X, MIM: 301040</li><li>Q->P at 219: in ATR-X, MIM: 301040</li><li>C->R at 220: in ATR-X, MIM: 301040</li><li>C->Y at 220: in MRXSHF1, MIM: 309580</li><li>W->S at 222: in ATR-X, MIM: 301040</li><li>C->F at 243: in ATR-X, MIM: 301040</li><li>R->C at 246: in ATR-X, MIM: 301040</li><li>R->L at 246: in ATR-X, MIM: 301040</li><li>G->C at 249: in ATR-X, MIM: 301040</li><li>G->D at 249: in ATR-X, MIM: 301040</li><li>L->S at 409: in MRXSHF1, MIM: 309580</li><li>P->S at 596: in dbSNP:rs1051678, MIM: 309580</li><li>G->E at 740: in dbSNP:rs1051680, MIM: 309580</li><li>Q->E at 929: in dbSNP:rs3088074, MIM: 309580</li><li>V->G at 1538: in ATR-X; could be a polymorphism, MIM: 301040</li><li>V->F at 1552: in ATR-X, MIM: 301040</li><li>H->R at 1609: in ATR-X, MIM: 301040</li><li>C->R at 1614: in ATR-X, MIM: 301040</li><li>T->M at 1621: in ATR-X, MIM: 301040</li><li>L->S at 1645: in ATR-X, MIM: 301040</li><li>K->N at 1650: in ATR-X, MIM: 301040</li><li>P->S at 1713: in ATR-X; without alpha-thalassemia, MIM: 301040</li><li>R->K at 1742: in ATR-X; atypical; patients presents spastic paraplegia at birth, MIM: 301040</li><li>Y->C at 1847: in ATR-X, MIM: 301040</li><li>N->S at 1860: rare polymorphism: in dbSNP rsrs45439799, MIM: 301040</li><li>D->V at 2035: in ATR-X, MIM: 301040</li><li>I->T at 2050: in MRXSHF1; originally reported as Carpenter-Waziri syndrome, MIM: 309580</li><li>Y->H at 2084: in ATR-X, MIM: 301040</li><li>R->Q at 2131: in MRXSHF1; originally reported as Juberg-Marsidi syndrome, MIM: 309580</li><li>Y->C at 2163: in ATR-X, MIM: 301040</li><li>R->G at 2271: in MRXSHF1, MIM: 309580</li>							<li>Q13535</li><li>Q9H6X2</li><li>Q9FKS4</li><li>P20848</li>	<li>X-linked alpha-thalassemia/mental retardation syndrome (ATR-X) [MIM:301040]</li><li>Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580]</li>	<li>rs3088074</li><li>rs1051678</li><li>rs1051680</li><li>rs45439799</li>	2
P46199	4528		<li>T->N at 59: in dbSNP:rs1056445</li><li>V->I at 556: in dbSNP:rs11357</li>									<li>rs1056445</li><li>rs11357</li>	2
P46439	2949		<li>L->P at 179: in dbSNP:rs2227963</li>									rs2227963	2
P46459			<li>T->M at 476: in dbSNP:rs155733</li>									rs155733	2
P46531	4851		<li>Q->R at 300: in dbSNP:rs11574885</li><li>R->W at 879: in dbSNP:rs11574895</li><li>V->I at 1671: in dbSNP:rs2229968</li>									<li>rs2229968</li><li>rs11574895</li><li>rs11574885</li>	2
P46597	438		<li>N->K at 17: in dbSNP:rs17149149</li>									rs17149149	2
P46663	623		<li>A->V at 250: in dbSNP:rs2229459</li><li>R->Q at 317: in dbSNP:rs8004609</li>									<li>rs2229459</li><li>rs8004609</li>	2
P46721	6579		<li>I->T at 13: in dbSNP:rs10841795</li><li>N->Y at 128: in dbSNP:rs11568567</li><li>N->I at 135: in dbSNP:rs45502302</li><li>E->D at 172: in dbSNP:rs11568563</li><li>A->T at 187</li><li>V->I at 220: in a colorectal cancer sample; somatic mutation</li><li>I->V at 355: in dbSNP:rs45628437</li><li>T->S at 668: in dbSNP:rs11568557</li>									<li>rs45502302</li><li>rs10841795</li><li>rs11568557</li><li>rs11568567</li><li>rs45628437</li><li>rs11568563</li>	2
P46736	79184	<ul><li>HSH->QSQ at 122-124: Abolishes metalloprotease activity and function in DNA repair</li><li>H->Q at 122: Loss of deubiquitinase activity</li></ul>	<li>I->V at 74: in dbSNP:rs28997578</li>	DNA repair	GO:0006281							rs28997578	3
P46777	6125		<li>Y->C at 210: in dbSNP:rs11540832</li>									rs11540832	2
P46778	6144		<li>F->S at 15: in dbSNP:rs17085349</li>									rs17085349	2
P46779	6158		<li>R->L at 66: in dbSNP:rs13502</li>									rs13502	2
P46781	6203		<li>L->F at 25: in dbSNP:rs41423149</li><li>V->F at 137: in a breast cancer sample; somatic mutation</li>									rs41423149	2
P46821			<li>R->Q at 326: in a colorectal cancer sample; somatic mutation</li><li>V->M at 574: in a colorectal cancer sample; somatic mutation</li><li>V->I at 594: in dbSNP:rs1866374</li><li>E->G at 869: in dbSNP:rs16876070</li><li>P->L at 1296: in dbSNP:rs34093016</li>									<li>rs34093016</li><li>rs16876070</li><li>rs1866374</li>	2
P46934	4734		<li>Y->H at 308: in a breast cancer sample; somatic mutation</li><li>Q->R at 360: in dbSNP:rs2303580</li><li>S->N at 379: in dbSNP:rs2303579</li>									<li>rs2303579</li><li>rs2303580</li>	2
P46939	7402		<li>L->I at 1880: in dbSNP:rs12204715</li><li>A->T at 1974: in dbSNP:rs12204734</li><li>G->D at 2060: in dbSNP:rs35676466</li><li>N->S at 2202: in dbSNP:rs1534443</li>									<li>rs12204734</li><li>rs12204715</li><li>rs1534443</li><li>rs35676466</li>	2
P46952	23498		<li>V->I at 37: in dbSNP:rs3816183</li><li>T->S at 42: in dbSNP:rs3816182</li>									<li>rs3816183</li><li>rs3816182</li>	2
P47211	2587		<li>C->W at 15: in dbSNP rsrs1143093</li><li>N->S at 334: in dbSNP:rs5376</li><li>P->L at 342: in dbSNP:rs5377</li>									<li>rs1143093</li><li>rs5377</li><li>rs5376</li>	2
P47710	1446		<li>A->V at 117: in dbSNP:rs10030475</li>									rs10030475	2
P47736	5909		<li>A->T at 107: in dbSNP:rs2275363</li><li>C->R at 257: in a breast cancer sample; somatic mutation</li><li>Y->C at 609: in a breast cancer sample; somatic mutation</li>									rs2275363	2
P47804	5995		<li>S->R at 66: in ARRP, MIM: 268000</li><li>V->L at 132, MIM: 268000</li><li>H->N at 152, MIM: 268000</li><li>A->T at 234, MIM: 268000</li><li>S->F at 241, MIM: 268000</li>								Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]		2
P47871	2642		<li>G->S at 40: in dbSNP:rs1801483</li><li>P->A at 114: in dbSNP:rs5385</li><li>F->C at 303: in dbSNP:rs5387</li>									<li>rs1801483</li><li>rs5385</li><li>rs5387</li>	2
P47872	6344		<li>D->N at 110: in dbSNP:rs6726491</li><li>A->P at 122: in dbSNP:rs3731600</li>									<li>rs3731600</li><li>rs6726491</li>	2
P47874	4975		<li>R->W at 26: in dbSNP:rs2233546</li><li>G->R at 36: in dbSNP:rs2233548</li>									<li>rs2233546</li><li>rs2233548</li>	2
P47881			<li>R->Q at 125: in dbSNP:rs703903</li>									rs703903	2
P47887	8388		<li>C->R at 27: in dbSNP:rs769431</li><li>H->D at 168: in a colorectal cancer sample; somatic mutation</li>									rs769431	2
P47890	8390		<li>Q->H at 88: in dbSNP:rs9892491</li>									rs9892491	2
P47895	220		<li>M->V at 386: in dbSNP:rs3803430</li>									rs3803430	2
P47898	3361		<li>R->C at 262: in a colorectal cancer sample; somatic mutation</li>										2
P47901	553		<li>K->N at 65: in dbSNP:rs35369693</li><li>G->R at 191: in dbSNP:rs33990840</li><li>S->G at 267: in dbSNP rsrs36030374</li><li>R->H at 364: in dbSNP:rs28632197</li>									<li>rs36030374</li><li>rs35369693</li><li>rs28632197</li><li>rs33990840</li>	2
P47902	1044		<li>P->R at 130: in dbSNP:rs2302275</li>									rs2302275	2
P47944	84560		<li>C->Y at 30: in dbSNP:rs666636</li><li>R->W at 31: in dbSNP:rs666647</li><li>G->D at 48: in dbSNP:rs11643815</li>									<li>rs666636</li><li>rs11643815</li><li>rs666647</li>	2
P47985	7386		<li>S->A at 6: in dbSNP:rs8100724</li>									rs8100724	2
P47989	7498		<li>E->K at 133: in dbSNP:rs45447191</li><li>R->C at 149: in XU1, MIM: 278300</li><li>G->R at 172: in dbSNP:rs45523133, MIM: 278300</li><li>T->M at 235: in dbSNP:rs45469499, MIM: 278300</li><li>K->M at 395: in dbSNP:rs34929837, MIM: 278300</li><li>P->S at 555: in dbSNP:rs45577338, MIM: 278300</li><li>D->A at 584: in dbSNP:rs45491693, MIM: 278300</li><li>R->Q at 607: in dbSNP:rs45442092, MIM: 278300</li><li>K->N at 617: in dbSNP:rs45442398, MIM: 278300</li><li>T->I at 623: in dbSNP:rs45448694, MIM: 278300</li><li>I->V at 646: in dbSNP:rs17323225, MIM: 278300</li><li>I->V at 703: in dbSNP:rs17011368, MIM: 278300</li><li>L->F at 763: in a breast cancer sample; somatic mutation, MIM: 278300</li><li>R->G at 791: in a breast cancer sample; somatic mutation, MIM: 278300</li><li>T->M at 910, MIM: 278300</li><li>V->L at 1091: in dbSNP:rs45619033, MIM: 278300</li><li>N->T at 1109: in dbSNP:rs45547640, MIM: 278300</li><li>P->R at 1150: in dbSNP:rs1042036, MIM: 278300</li><li>R->C at 1176: in dbSNP:rs45624433, MIM: 278300</li><li>R->W at 1296: in dbSNP:rs45564939, MIM: 278300</li>								Xanthinuria type 1 (XU1) [MIM:278300]	<li>rs45491693</li><li>rs1042036</li><li>rs45442092</li><li>rs45564939</li><li>rs45448694</li><li>rs17011368</li><li>rs34929837</li><li>rs17323225</li><li>rs45447191</li><li>rs45547640</li><li>rs45624433</li><li>rs45619033</li><li>rs45469499</li><li>rs45523133</li><li>rs45577338</li><li>rs45442398</li>	2
P48029	6535		<li>G->R at 87: in X-linked mental retardation</li><li>T->S at 164: in dbSNP:rs642454</li><li>G->R at 381: in X-linked mental retardation</li><li>P->L at 390: in X-linked mental retardation</li><li>Missing  at 408: in X-linked creatine deficiency syndrome</li><li>P->L at 554: in X-linked mental retardation</li>									rs642454	2
P48039	4543		<li>R->W at 54: exhibits significantly reduced B: in dbSNP rsrs1800885</li><li>A->V at 157: similar binding characteristics compared to wild-type; dbSNP:rs1800884</li><li>I->T at 212: in dbSNP:rs7654853</li>			binding	GO:0005488					<li>rs7654853</li><li>rs1800884</li><li>rs1800885</li>	2
P48047	539		<li>K->R at 98: in dbSNP:rs4842</li>									rs4842	2
P48048	3758		<li>R->W at 6: in dbSNP:rs34191956</li><li>V->E at 72: in BS2, MIM: 241200</li><li>D->Y at 74: in BS2, MIM: 241200</li><li>W->C at 99: in BS2, MIM: 241200</li><li>D->H at 108: in BS2, MIM: 241200</li><li>P->L at 110: in BS2, MIM: 241200</li><li>S->F at 115: in a breast cancer sample; somatic mutation, MIM: 241200</li><li>V->E at 122: in BS2, MIM: 241200</li><li>N->K at 124: in BS2, MIM: 241200</li><li>G->E at 167: in BS2, MIM: 241200</li><li>A->T at 198: in BS2, MIM: 241200</li><li>A->V at 214: in BS2, MIM: 241200</li><li>S->R at 219: in BS2, MIM: 241200</li><li>V->G at 315: in BS2, MIM: 241200</li><li>M->T at 357: in BS2: in dbSNP rsrs59172778, MIM: 241200</li>							<li>P12865</li><li>P21465</li><li>P23309</li>	Bartter syndrome type 2 (BS2) [MIM:241200]	<li>rs59172778</li><li>rs34191956</li>	2
P48052	1358		<li>E->G at 80: in dbSNP:rs17850135</li>									rs17850135	2
P48060	11010		<li>R->Q at 211: in dbSNP:rs3736392</li>									rs3736392	2
P48145	2831		<li>P->Q at 19: in a breast cancer sample; somatic mutation</li><li>Y->F at 135: in dbSNP:rs33977775</li><li>R->C at 319: in dbSNP:rs36068168</li>									<li>rs33977775</li><li>rs36068168</li>	2
P48146	2832		<li>G->R at 92: in a colorectal cancer sample; somatic mutation</li><li>Q->R at 206: in dbSNP:rs4809401</li>									rs4809401	2
P48147	5550		<li>L->V at 351: in dbSNP:rs12192054</li><li>V->I at 706: in dbSNP:rs1051484</li>									<li>rs1051484</li><li>rs12192054</li>	2
P48165	2703		<li>R->T at 23: in nuclear progressive cataract</li><li>V->E at 44: in cataract-microcornea syndrome, MIM: 116150</li><li>E->K at 48: in CZP1, MIM: 116200</li><li>V->G at 64: in CZP1 and nuclear progressive cataract, MIM: 116200</li><li>P->S at 88: in CZP1, MIM: 116200</li><li>R->Q at 198: in cataract-microcornea syndrome, MIM: 116150</li><li>I->M at 247: in CZP1, MIM: 116200</li>								<li>Zonular pulverulent cataract type 1 (CZP1) [MIM:116200]</li><li>Cataract-microcornea syndrome [MIM:116150]</li>		2
P48167	2743		<li>G->D at 251: in STHE, MIM: 149400</li>								Startle disease (STHE) [MIM:149400]		2
P48169	2557		<li>A->T at 19: in dbSNP:rs16859837</li><li>L->M at 26: in dbSNP:rs2229940</li><li>S->R at 516: in a breast cancer sample; somatic mutation</li>									<li>rs16859837</li><li>rs2229940</li>	2
P48201	518		<li>G->E at 93: in dbSNP:rs1802622</li>									rs1802622	2
P48304	5968		<li>R->H at 109: in dbSNP:rs7586984</li>									rs7586984	2
P48307	7980		<li>V->A at 102: in dbSNP:rs1804202</li><li>R->Q at 231: in dbSNP:rs12669450</li>									<li>rs12669450</li><li>rs1804202</li>	2
P48378			<li>A->G at 37: in a breast cancer sample; somatic mutation</li><li>E->K at 110: in a breast cancer sample; somatic mutation</li>										2
P48382	5993		<li>R->Q at 149: in BLS2, MIM: 209920</li><li>R->Q at 197: in dbSNP:rs2233851, MIM: 209920</li><li>P->R at 409: in dbSNP:rs2233854, MIM: 209920</li><li>P->S at 499: in dbSNP:rs2233855, MIM: 209920</li>								Bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]	<li>rs2233851</li><li>rs2233854</li><li>rs2233855</li>	2
P48426	5305		<li>N->S at 251: in dbSNP:rs10828317</li>									rs10828317	2
P48436	6662		<li>P->L at 108: in CMD1, MIM: 114290</li><li>F->L at 112: in CMD1; loss of DNA binding, MIM: 114290</li><li>F->S at 112: in CMD1, MIM: 114290</li><li>A->V at 119: in CMD1; almost no loss of DNA binding, MIM: 114290</li><li>W->R at 143: in CMD1, MIM: 114290</li><li>R->P at 152: in CMD1, MIM: 114290</li><li>F->L at 154: in CMD1; 19-fold reduction in DNA binding, MIM: 114290</li><li>A->T at 158: in CMD1; 6-fold reduction in DNA binding, MIM: 114290</li><li>H->Y at 165: in CMD1; loss of DNA binding: in dbSNP rsrs28940282, MIM: 114290</li><li>P->R at 170: in CMD1, MIM: 114290</li><li>Missing  at 354-356: in CMD1, MIM: 114290</li>			DNA binding	GO:0003677			<li>P06787</li><li>P27165</li><li>P16075</li><li>P15094</li><li>Q9UWF0</li><li>P11120</li><li>P23286</li><li>O60041</li><li>O94739</li><li>Q9HFY6</li>	Campomelic dysplasia (CMD1) [MIM:114290]	rs28940282	2
P48444	372		<li>F->L at 186: in dbSNP:rs682327</li><li>K->N at 309: in dbSNP:rs1063124</li>									<li>rs1063124</li><li>rs682327</li>	2
P48448	222		<li>A->T at 50: in dbSNP:rs3741178</li>									rs3741178	2
P48449	4047		<li>R->Q at 175: in dbSNP:rs2839158</li><li>H->R at 310: in dbSNP:rs34115287</li><li>R->W at 614: in dbSNP:rs35785446</li><li>L->V at 642: in dbSNP:rs2254524</li><li>P->L at 688: in dbSNP:rs17293705</li>									<li>rs17293705</li><li>rs2839158</li><li>rs2254524</li><li>rs34115287</li><li>rs35785446</li>	2
P48506	2729		<li>L->S at 55: in dbSNP:rs2066512</li><li>R->C at 127: in hemolytic anemia, MIM: 230450</li><li>P->L at 158: in hemolytic anemia, MIM: 230450</li><li>H->L at 370: in hemolytic anemia, MIM: 230450</li><li>P->S at 462: in dbSNP:rs17883718, MIM: 230450</li>								Hemolytic anemia [MIM:230450]	<li>rs17883718</li><li>rs2066512</li>	2
P48507	2730		<li>I->M at 209: in dbSNP:rs17880087</li>									rs17880087	2
P48509	977		<li>T->M at 120: in dbSNP rsrs34215390</li><li>K->R at 132: in dbSNP rsrs55840993</li><li>P->S at 137: in dbSNP rsrs55841393</li><li>R->H at 178</li>									<li>rs34215390</li><li>rs55840993</li><li>rs55841393</li>	2
P48546	2696		<li>R->W at 136: in dbSNP:rs13306402</li><li>A->V at 207: in dbSNP:rs1800436</li><li>L->V at 262: in dbSNP:rs5392</li><li>E->Q at 354: in dbSNP:rs1800437</li>									<li>rs1800437</li><li>rs13306402</li><li>rs5392</li><li>rs1800436</li>	2
P48549	3760		<li>K->R at 40: in dbSNP:rs16838016</li>									rs16838016	2
P48551	3455		<li>F->S at 8: associated with susceptibility to HVB infection; lower cell surface levels; lower induction of MHC class 1 expression by INF-alpha; dbSNP:rs2229207</li><li>F->V at 10: in dbSNP:rs1051393</li><li>I->V at 196: in dbSNP:rs17860223</li>					cell surface	GO:0009928,GO:0009986	<li>P17267</li><li>P52787</li><li>Q5XWD5</li><li>P27352</li>		<li>rs1051393</li><li>rs17860223</li><li>rs2229207</li>	2
P48553	7109		<li>V->E at 257</li><li>I->M at 633: in dbSNP:rs915877</li><li>V->M at 726: common polymorphism; dbSNP:rs2071152</li>									<li>rs2071152</li><li>rs915877</li>	2
P48634	7916		<li>P->R at 57: in dbSNP:rs1062968</li><li>D->V at 82: in dbSNP:rs6921213</li><li>P->L at 106: in dbSNP:rs2280801</li><li>R->C at 477: in dbSNP:rs17857493</li><li>K->T at 544: in dbSNP:rs1046080</li><li>Q->K at 694: in dbSNP:rs2844469</li><li>D->E at 742: in dbSNP:rs1046081</li><li>R->C at 804: in dbSNP:rs11538262</li><li>T->I at 1087: in a breast cancer sample; somatic mutation</li><li>R->H at 1152: in a breast cancer sample; somatic mutation</li><li>G->A at 1285: in dbSNP:rs2736158</li><li>S->N at 1407: in dbSNP:rs35464047</li><li>G->A at 1415: in dbSNP:rs2857703</li><li>P->L at 1503: in dbSNP:rs2272593</li><li>G->D at 1544: in dbSNP:rs34175432</li><li>R->Q at 1563: in dbSNP:rs11538263</li><li>R->H at 1740: in dbSNP:rs1046089</li><li>G->A at 1744: in dbSNP:rs2844491</li><li>V->M at 1774: in dbSNP:rs11538264</li><li>V->M at 1775: in dbSNP:rs11538264</li><li>V->L at 1895: in dbSNP:rs3132453</li><li>P->S at 2006: in dbSNP:rs10885</li><li>P->L at 2130: in dbSNP:rs1046756</li>									<li>rs2280801</li><li>rs2844469</li><li>rs34175432</li><li>rs10885</li><li>rs2736158</li><li>rs2857703</li><li>rs35464047</li><li>rs11538262</li><li>rs1046756</li><li>rs11538263</li><li>rs1046081</li><li>rs11538264</li><li>rs1046080</li><li>rs2844491</li><li>rs3132453</li><li>rs1046089</li><li>rs6921213</li><li>rs1062968</li><li>rs2272593</li><li>rs17857493</li>	2
P48637	2937		<li>A->D at 26: in GSS deficiency, MIM: 266130</li><li>L->P at 188: in GSS deficiency; 100-fold reduction of activity, MIM: 266130</li><li>D->A at 219: in GSS deficiency, MIM: 266130</li><li>D->G at 219: in GSS deficiency: in dbSNP rsrs28938472, MIM: 266130</li><li>R->Q at 236: in dbSNP rsrs34239729, MIM: 266130</li><li>L->R at 254: in GSS deficiency, MIM: 266130</li><li>R->W at 267: in GSS deficiency, MIM: 266130</li><li>Y->C at 270: in GSS deficiency; 100-fold reduction of activity, MIM: 266130</li><li>Y->H at 270: in GSS deficiency; 100-fold reduction of activity, MIM: 266130</li><li>R->C at 283: in GSS deficiency; 10-fold reduction of activity, MIM: 266130</li><li>L->Q at 286: in GSS deficiency, MIM: 266130</li><li>R->C at 330: in GSS deficiency, MIM: 266130</li><li>K->E at 437: in dbSNP rsrs34852238, MIM: 266130</li><li>G->V at 464: in GSS deficiency, MIM: 266130</li><li>D->E at 469: in GSS deficiency, MIM: 266130</li>							<li>P48637</li><li>Q8HXX5</li><li>Q5EAC2</li>	Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	<li>rs34239729</li><li>rs28938472</li><li>rs34852238</li>	2
P48643	22948		<li>E->V at 146: in dbSNP:rs11557652</li><li>H->R at 147: in autosomal recessive sensory neuropathy with spastic paraplegia, MIM: 256840</li>								Autosomal recessive sensory neuropathy with spastic paraplegia [MIM:256840]	rs11557652	2
P48645	10874		<li>E->G at 79: in dbSNP:rs35892915</li><li>F->L at 148: in dbSNP:rs12108463</li>									<li>rs12108463</li><li>rs35892915</li>	2
P48651	9791		<li>T->N at 423: in dbSNP:rs7835798</li>									rs7835798	2
P48668	286887		<li>R->Q at 182: in dbSNP:rs11608915</li><li>S->N at 227: in dbSNP:rs17099602</li><li>V->I at 481: in dbSNP:rs412533</li>									<li>rs11608915</li><li>rs17099602</li><li>rs412533</li>	2
P48681	10763		<li>V->I at 815: in dbSNP:rs951781</li><li>S->N at 1016: in dbSNP:rs2365718</li><li>P->L at 1101: in dbSNP:rs2886443</li><li>R->S at 1133: in dbSNP:rs17393797</li><li>P->L at 1275: in dbSNP:rs3748570</li>									<li>rs951781</li><li>rs2365718</li><li>rs3748570</li><li>rs17393797</li><li>rs2886443</li>	2
P48728	275		<li>H->R at 42: in NKH, MIM: 605899</li><li>G->R at 47: in NKH, MIM: 605899</li><li>N->I at 145: in NKH, MIM: 605899</li><li>E->K at 211: in NKH, MIM: 605899</li><li>G->D at 269: in NKH, MIM: 605899</li><li>D->H at 276: in NKH, MIM: 605899</li><li>R->H at 320: in NKH, MIM: 605899</li>								Non-ketotic hyperglycinemia (NKH) [MIM:605899]		2
P48729	1452		<li>D->H at 297: in a breast pleomorphic lobular carcinoma sample; somatic mutation</li>										2
P48730	1453		<li>T->A at 44: in FASPS, MIM: 604348</li><li>S->C at 97: in breast cancer samples; infiltrating ductal carcinoma; somatic mutation, MIM: 604348</li><li>P->A at 401: in dbSNP rsrs56124628, MIM: 604348</li>								Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	rs56124628	2
P48740	5648	<ul><li>E->A,Q at 68: Partial loss of interaction with FCN2, FCN3 and MBL2</li><li>Y->A at 77: Partial loss of interaction with FCN2, FCN3 and MBL2</li><li>E->A at 99: Partial loss of interaction with FCN2, FCN3 and MBL2</li><li>D->A,N at 121: Loss of interaction with FNC2 and FCN3 and partial loss of interaction with MBL2</li><li>F->A at 122: Partial loss of interaction with FCN2, FCN3 and MBL2</li><li>S->A at 123: Partial loss of interaction with FCN2, FCN3 and MBL2</li><li>E->A at 125: Partial loss of interaction with FCN2, FCN3 and MBL2</li><li>H->A at 237: Loss of interaction with FCN2, FCN3 and MBL2</li><li>E->A at 239: Partial loss of interaction with FCN2, FCN3 and MBL2</li><li>Y->A at 244: Loss of interaction with FCN2, FCN3 and MBL2</li><li>E->A at 262: Partial loss of interaction with FCN2, FCN3 and MBL2</li><li>S->A at 274: Partial loss of interaction with FCN2 and FCN3. No effect on interaction with MBL2</li><li>N->A at 283: Partial loss of interaction with FCN2, FCN3 and MBL2</li><li>E->A at 286: Partial loss of interaction with FCN2, FCN3 and MBL2</li><li>S->A at 646: No autoproteolytic processing</li></ul>	<li>T->I at 21: in dbSNP:rs1062049</li><li>V->A at 568: in dbSNP:rs13322090</li><li>G->R at 679: in dbSNP:rs3774266</li>							<li>O75636</li><li>Q15485</li><li>Q66S41</li><li>Q66S50</li><li>Q66S60</li><li>Q66S61</li><li>Q66S62</li><li>Q66S63</li><li>Q66S54</li><li>Q66S65</li><li>Q66S64</li><li>Q66S37</li><li>Q66S58</li><li>Q66S45</li><li>P11226</li>		<li>rs13322090</li><li>rs1062049</li><li>rs3774266</li>	3
P48745	4856		<li>R->Q at 42: in dbSNP:rs2279112</li><li>R->H at 233: in dbSNP:rs11538929</li>									<li>rs11538929</li><li>rs2279112</li>	2
P48788	7136		<li>R->Q at 174: in DA2B, MIM: 601680</li>								Distal arthrogryposis type 2B (DA2B) [MIM:601680]		2
P48960	976		<li>R->Q at 367: in dbSNP:rs2230748</li>									rs2230748	2
P49005	5425		<li>N->S at 303: in dbSNP:rs3087366</li>									rs3087366	2
P49019	8843		<li>P->T at 173: in dbSNP rsrs1798192</li><li>L->F at 198: in dbSNP rsrs17884481</li><li>R->H at 253</li><li>M->I at 317</li><li>M->I at 346: in dbSNP rsrs56308926</li><li>G->S at 350</li>									<li>rs1798192</li><li>rs56308926</li><li>rs17884481</li>	2
P49069	819		<li>V->I at 78: in dbSNP:rs12657663</li><li>G->S at 100: in dbSNP:rs11552197</li>									<li>rs12657663</li><li>rs11552197</li>	2
P49137	9261		<li>A->G at 173: in dbSNP rsrs35671930</li><li>A->S at 361: in dbSNP rsrs55894011</li>									<li>rs55894011</li><li>rs35671930</li>	2
P49184	1774		<li>V->I at 122: in dbSNP:rs34952165</li>									rs34952165	2
P49189	223		<li>C->S at 116: in allele ALDH9A1*2</li>							<li>Q29228</li><li>P49189</li><li>Q5R8A4</li><li>Q2KJH9</li>			2
P49221	7047		<li>E->D at 100: in dbSNP:rs2271087</li><li>Y->H at 244: in dbSNP:rs9818345</li><li>S->T at 249: in dbSNP:rs937838</li><li>E->K at 313: in dbSNP:rs1995641</li><li>R->C at 372: in dbSNP:rs3749195</li><li>R->H at 372: in dbSNP:rs13326552</li><li>I->V at 376: in dbSNP:rs17077022</li><li>V->I at 409: in dbSNP:rs9876921</li><li>E->Q at 437: in dbSNP:rs1395388</li>									<li>rs1995641</li><li>rs9818345</li><li>rs17077022</li><li>rs3749195</li><li>rs937838</li><li>rs1395388</li><li>rs9876921</li><li>rs2271087</li><li>rs13326552</li>	2
P49238	1524		<li>E->D at 13: in dbSNP:rs41535248</li><li>T->A at 57</li><li>V->I at 122</li><li>V->I at 147: in dbSNP:rs3732380</li><li>V->I at 249: common polymorphism in Caucasian population; associated with a markedly reduced risk of acute coronary artery disease; dbSNP:rs3732379</li><li>T->M at 280: common polymorphism in Caucasian population; dbSNP:rs3732378</li>									<li>rs3732379</li><li>rs3732378</li><li>rs41535248</li><li>rs3732380</li>	2
P49247	22934		<li>A->V at 135: in ribose 5-phosphate isomerase deficiency, MIM: 608611</li>							<li>Q12189</li><li>P49247</li><li>P47968</li>	Ribose 5-phosphate isomerase deficiency [MIM:608611]		2
P49257	3998		<li>R->Q at 14: in dbSNP:rs1043302</li><li>V->A at 39: in dbSNP:rs33926449</li><li>I->T at 355: in dbSNP:rs3737392</li><li>M->L at 410: in dbSNP:rs2298711</li>									<li>rs2298711</li><li>rs33926449</li><li>rs3737392</li><li>rs1043302</li>	2
P49279	6556		<li>Q->R at 30</li><li>A->V at 318</li><li>D->N at 543: associated with susceptibility to infection with Mycobacterium ulcerans; dbSNP:rs17235409</li>									rs17235409	2
P49281	4891		<li>A->T at 48: in a colorectal cancer sample; somatic mutation</li><li>Missing  at 114: in hypochromic microcytic anemia</li><li>G->V at 212: in hypochromic microcytic anemia, MIM: 206100</li><li>E->D at 399: in hypochromic microcytic anemia; increased skipping of exon 12, MIM: 206100</li><li>R->C at 416: in hypochromic microcytic anemia, MIM: 206100</li><li>L->I at 435, MIM: 206100</li>								Hypochromic microcytic anemia [MIM:206100]		2
P49286	4544		<li>G->E at 24: in dbSNP:rs8192552</li><li>L->F at 66</li><li>R->H at 231: in dbSNP:rs8192553</li>									<li>rs8192552</li><li>rs8192553</li>	2
P49321	4678		<li>V->G at 620: in dbSNP:rs34618000</li>									rs34618000	2
P49326	2330		<li>P->A at 400: in dbSNP rsrs28381218</li><li>P->L at 457</li><li>R->S at 506: in dbSNP rsrs28381223</li>									<li>rs28381223</li><li>rs28381218</li>	2
P49335	5456		<li>Missing  at 201-202: in DFN3</li><li>A->V at 312: in DFN3, MIM: 304400</li><li>L->W at 317: in DFN3, MIM: 304400</li><li>R->G at 323: in DFN3; somatic mosaicism in 50% of the peripheral blood lymphocytes, MIM: 304400</li><li>R->S at 330: in DFN3, MIM: 304400</li><li>K->E at 334: in DFN3, MIM: 304400</li>								X-linked deafness type 3 (DFN3) [MIM:304400]		2
P49368	7203		<li>L->F at 391: in dbSNP:rs2230194</li>									rs2230194	2
P49411	7284		<li>R->Q at 336: in COXPD4, MIM: 610678</li>								Combined oxidative phosphorylation deficiency type 4 (COXPD4) [MIM:610678]		2
P49418	273		<li>K->E at 218: in dbSNP:rs35166354</li><li>M->I at 376: in dbSNP:rs17171345</li><li>K->T at 496: in dbSNP:rs35024632</li>									<li>rs35166354</li><li>rs35024632</li><li>rs17171345</li>	2
P49419	501		<li>A->V at 171: in PDE, MIM: 266100</li><li>T->A at 384: in dbSNP:rs2306618, MIM: 266100</li><li>E->Q at 399: in PDE, MIM: 266100</li><li>K->Q at 411: in dbSNP:rs12514417, MIM: 266100</li>								Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	<li>rs12514417</li><li>rs2306618</li>	2
P49441	3628		<li>T->A at 228: frequency not significantly different between lithium-treated bipolar patients and healthy controls; dbSNP:rs7592352</li><li>V->M at 355: in dbSNP:rs35616200</li>									<li>rs7592352</li><li>rs35616200</li>	2
P49448	2747		<li>S->A at 498: in dbSNP:rs9697983</li>									rs9697983	2
P49454	1063		<li>Q->L at 250: in dbSNP:rs1050065</li><li>D->G at 272: in dbSNP:rs1050066</li><li>R->C at 300: in dbSNP:rs17023281</li><li>H->Q at 494: in dbSNP:rs2070065</li><li>M->V at 701: in dbSNP:rs3795524</li><li>Q->E at 754: in dbSNP:rs3795523</li><li>R->H at 815: in dbSNP:rs3795522</li><li>Y->D at 1018: in dbSNP:rs3795519</li><li>G->R at 1033: in dbSNP:rs3795518</li><li>T->I at 1105: in dbSNP:rs12067133</li><li>L->S at 1412: in dbSNP:rs3795517</li><li>A->T at 1515: in dbSNP:rs2666839</li><li>Missing at 1516-1611</li><li>K->R at 1539: in dbSNP:rs3795514</li><li>E->A at 2011: in dbSNP:rs3790647</li><li>N->K at 3202: in dbSNP:rs7289</li>									<li>rs17023281</li><li>rs12067133</li><li>rs2070065</li><li>rs3790647</li><li>rs3795518</li><li>rs3795517</li><li>rs1050065</li><li>rs1050066</li><li>rs3795519</li><li>rs2666839</li><li>rs3795523</li><li>rs3795522</li><li>rs7289</li><li>rs3795524</li><li>rs3795514</li>	2
P49588	16		<li>G->D at 275: in dbSNP:rs11537667</li>									rs11537667	2
P49593	9647		<li>R->C at 132: in dbSNP:rs9610645</li><li>R->Q at 296: in a colorectal cancer sample; somatic mutation</li><li>Q->K at 417: in a breast cancer sample; somatic mutation</li><li>L->R at 420: in dbSNP:rs2070507</li>									<li>rs9610645</li><li>rs2070507</li>	2
P49619	1608		<li>T->S at 142: in dbSNP:rs1004588</li><li>K->R at 316: in dbSNP:rs2193587</li><li>R->W at 370: in dbSNP:rs3213770</li><li>E->K at 706: in a breast cancer sample; somatic mutation</li>									<li>rs1004588</li><li>rs3213770</li><li>rs2193587</li>	2
P49638	7274		<li>R->W at 59: in AVED, MIM: 277460</li><li>H->Q at 101: in AVED, MIM: 277460</li><li>A->T at 120: in AVED, MIM: 277460</li><li>E->K at 141: in AVED, MIM: 277460</li><li>T->S at 172: in dbSNP:rs34647756, MIM: 277460</li><li>R->H at 192: in AVED: in dbSNP rsrs28936369, MIM: 277460</li><li>R->W at 221: in AVED; dbSNP:rs35916840, MIM: 277460</li><li>G->R at 246: in AVED; mild and slowly progressive form of the disease, MIM: 277460</li>								Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]	<li>rs28936369</li><li>rs35916840</li><li>rs34647756</li>	2
P49639	3198		<li>H->R at 73: frequent polymorphism in individuals of European or African origin; dbSNP:rs10951154</li><li>E->A at 189: in dbSNP:rs17500494</li>									<li>rs17500494</li><li>rs10951154</li>	2
P49641	4122		<li>Q->R at 412: in dbSNP:rs2106673</li><li>S->F at 665: in dbSNP:rs1266494</li>									<li>rs1266494</li><li>rs2106673</li>	2
P49642	5557		<li>D->A at 5: in dbSNP:rs2277339</li>									rs2277339	2
P49643	5558		<li>Q->L at 265: in dbSNP:rs3763183</li>									rs3763183	2
P49674	1454		<li>R->L at 256: in a lung adenocarcinoma sample; somatic mutation</li><li>H->R at 413: in dbSNP rsrs35665927</li>									rs35665927	2
P49675	6770		<li>R->W at 121: in dbSNP:rs34908868</li><li>E->G at 169: in CLAH; partial loss of activity, MIM: 201710</li><li>E->K at 169: in CLAH; partial loss of activity, MIM: 201710</li><li>R->L at 182: in CLAH; partial loss of activity, MIM: 201710</li><li>A->D at 203: in dbSNP:rs1042854, MIM: 201710</li><li>R->T at 217: in CLAH, MIM: 201710</li><li>A->V at 218: in CLAH; partial loss of activity, MIM: 201710</li><li>M->T at 225: in CLAH, MIM: 201710</li><li>Missing  at 272: in CLAH; partial loss of activity, MIM: 201710</li><li>L->P at 275: in CLAH; partial loss of activity, MIM: 201710</li>								Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	<li>rs34908868</li><li>rs1042854</li>	2
P49682	2833		<li>R->Q at 292</li><li>A->T at 363</li>										2
P49685	2838		<li>P->S at 37: in dbSNP:rs2230344</li><li>M->V at 112: in dbSNP:rs35320046</li>									<li>rs2230344</li><li>rs35320046</li>	2
P49703	379		<li>T->N at 91: in dbSNP:rs1059968</li>									rs1059968	2
P49711	10664		<li>R->W at 339: in a Wilms' tumor</li><li>K->E at 344: in a breast tumor</li><li>H->R at 345: in a prostate tumor</li><li>R->Q at 448: in a Wilms' tumor</li>										2
P49720	5691		<li>M->L at 34: in dbSNP:rs4907</li>									rs4907	2
P49746	7059		<li>S->G at 279: in dbSNP:rs35154152</li><li>R->G at 955: in a breast cancer sample; somatic mutation</li>									rs35154152	2
P49747	1311		<li>E->D at 50</li><li>L->W at 51</li><li>A->G at 109</li><li>R->G at 224</li><li>P->R at 276: in EDM1, MIM: 132400</li><li>R->P at 285, MIM: 132400</li><li>D->N at 290: in PSACH; mild form, MIM: 177170</li><li>G->R at 299: in PSACH; mild form, MIM: 177170</li><li>C->R at 328: in PSACH; mild form, MIM: 177170</li><li>D->Y at 342: in EDM1; Fairbank type, MIM: 132400</li><li>C->R at 348: in PSACH, MIM: 177170</li><li>D->V at 349: in PSACH; mild form, MIM: 177170</li><li>D->V at 361: in EDM1; Fairbank type, MIM: 132400</li><li>D->Y at 361: in EDM1, MIM: 132400</li><li>Missing  at 367-368: in EDM1, MIM: 132400</li><li>C->S at 371: in EDM1; Fairbank type, MIM: 132400</li><li>Missing  at 372: in PSACH, MIM: 132400</li><li>Missing  at 374: in PSACH; mild form, MIM: 132400</li><li>R->C at 381: in dbSNP:rs3179763, MIM: 132400</li><li>C->G at 387: in PSACH; mild form, MIM: 177170</li><li>PNSD->V at 391-394: in PSACH, MIM: 177170</li><li>D->Y at 408: in EDM1, MIM: 132400</li><li>D->A at 420: in EDM1, MIM: 132400</li><li>G->E at 440: in PSACH; mild form, MIM: 177170</li><li>G->R at 440: in PSACH; mild form, MIM: 177170</li><li>N->S at 453: in EDM1; Fairbank type: in dbSNP rsrs28936668, MIM: 132400</li><li>Missing  at 459: in PSACH; severe form, MIM: 132400</li><li>C->Y at 468: in PSACH; severe form, MIM: 177170</li><li>Missing  at 469: in PSACH, MIM: 177170</li><li>D->Y at 472: in PSACH; severe form, MIM: 177170</li><li>D->G at 473: in PSACH; severe form: in dbSNP rsrs28936669, MIM: 177170</li><li>Missing  at 473: in PSACH; severe form, MIM: 177170</li><li>D->G at 482: in PSACH, MIM: 177170</li><li>Missing  at 513-516: in PSACH; mild form, MIM: 177170</li><li>D->N at 518: in PSACH; mild form, MIM: 177170</li><li>N->K at 523: in EDM1; Ribbing type, MIM: 132400</li><li>T->M at 585: in PSACH; mild form and EDM1, MIM: 177170</li><li>T->R at 585: in EDM1, MIM: 132400</li><li>G->D at 719: in PSACH; severe, MIM: 177170</li>								<li>Pseudoachondroplasia (PSACH) [MIM:177170]</li><li>Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]</li>	<li>rs28936669</li><li>rs28936668</li><li>rs3179763</li>	2
P49748	37		<li>L->F at 17: in dbSNP:rs2230179</li><li>G->D at 43: in VLCAD deficiency; could be a polymorphism; dbSNP:rs2230178, MIM: 201475</li><li>P->L at 65: in dbSNP:rs28934585, MIM: 201475</li><li>Missing  at 130: in VLCAD deficiency, MIM: 201475</li><li>T->N at 158: in VLCAD deficiency, MIM: 201475</li><li>Q->R at 159: in VLCAD deficiency, MIM: 201475</li><li>V->M at 174: in VLCAD deficiency, MIM: 201475</li><li>G->S at 185: in VLCAD deficiency, MIM: 201475</li><li>A->P at 213: in VLCAD deficiency, MIM: 201475</li><li>E->K at 218: in VLCAD deficiency, MIM: 201475</li><li>L->R at 243: in VLCAD deficiency, MIM: 201475</li><li>K->E at 247: in VLCAD deficiency, MIM: 201475</li><li>K->T at 247: in VLCAD deficiency, MIM: 201475</li><li>T->M at 260: in VLCAD deficiency, MIM: 201475</li><li>Missing  at 278: in VLCAD deficiency, MIM: 201475</li><li>A->D at 281: in VLCAD deficiency, MIM: 201475</li><li>V->A at 283: in VLCAD deficiency, MIM: 201475</li><li>G->D at 290: in VLCAD deficiency, MIM: 201475</li><li>G->E at 294: in VLCAD deficiency, MIM: 201475</li><li>K->N at 299: in VLCAD deficiency, MIM: 201475</li><li>Missing  at 299: in VLCAD deficiency, MIM: 201475</li><li>V->A at 317: in VLCAD deficiency, MIM: 201475</li><li>M->V at 352: in VLCAD deficiency, MIM: 201475</li><li>A->S at 359: in dbSNP:rs1051701, MIM: 201475</li><li>R->C at 366: in VLCAD deficiency, MIM: 201475</li><li>R->H at 366: in VLCAD deficiency, MIM: 201475</li><li>Missing  at 381: in VLCAD deficiency, MIM: 201475</li><li>K->Q at 382: in VLCAD deficiency, MIM: 201475</li><li>D->H at 405: in VLCAD deficiency, MIM: 201475</li><li>G->D at 441: in VLCAD deficiency; dbSNP:rs2309689, MIM: 201475</li><li>R->H at 450: in VLCAD deficiency, MIM: 201475</li><li>R->Q at 453: in VLCAD deficiency, MIM: 201475</li><li>D->N at 454: in VLCAD deficiency, MIM: 201475</li><li>R->H at 456: in VLCAD deficiency, MIM: 201475</li><li>F->L at 458: in VLCAD deficiency, MIM: 201475</li><li>R->W at 459: in VLCAD deficiency, MIM: 201475</li><li>G->E at 463: in VLCAD deficiency, MIM: 201475</li><li>R->Q at 469: in VLCAD deficiency, MIM: 201475</li><li>R->W at 469: in VLCAD deficiency, MIM: 201475</li><li>A->P at 490: in VLCAD deficiency, MIM: 201475</li><li>L->P at 502: in VLCAD deficiency, MIM: 201475</li><li>E->K at 534: in VLCAD deficiency; dbSNP:rs2230180, MIM: 201475</li><li>L->I at 602: in VLCAD deficiency, MIM: 201475</li><li>R->W at 613: in VLCAD deficiency, MIM: 201475</li><li>R->Q at 615: in VLCAD deficiency, MIM: 201475</li><li>S->F at 623: in dbSNP:rs13383, MIM: 201475</li>							<li>P49748</li><li>P45953</li><li>Q8HXY7</li><li>P48818</li><li>P50544</li>	Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]	<li>rs2230179</li><li>rs2309689</li><li>rs2230178</li><li>rs1051701</li><li>rs28934585</li><li>rs13383</li><li>rs2230180</li>	2
P49753	10965		<li>H->R at 475: in dbSNP:rs7494</li>									rs7494	2
P49754	27072		<li>T->P at 146: in dbSNP:rs35693565</li><li>C->R at 647: in dbSNP:rs11762417</li><li>R->H at 843: in dbSNP:rs1059508</li>									<li>rs11762417</li><li>rs1059508</li><li>rs35693565</li>	2
P49755	10972		<li>S->Y at 64: in dbSNP:rs4929</li><li>R->G at 152: in dbSNP:rs17103066</li>									<li>rs17103066</li><li>rs4929</li>	2
P49757	8650		<li>V->I at 387: in dbSNP:rs17182272</li><li>G->D at 595: in dbSNP:rs17781919</li>									<li>rs17781919</li><li>rs17182272</li>	2
P49759	1195		<li>S->F at 61: in dbSNP rsrs55989135</li><li>N->D at 99: in dbSNP:rs6735666</li><li>R->G at 118: in dbSNP rsrs56135616</li><li>P->S at 307: in dbSNP rsrs35412475</li><li>M->T at 440: in dbSNP rsrs35393352</li><li>E->G at 459: in dbSNP:rs12709</li>									<li>rs35393352</li><li>rs56135616</li><li>rs35412475</li><li>rs6735666</li><li>rs12709</li><li>rs55989135</li>	2
P49761	1198		<li>R->C at 486</li><li>Q->R at 607</li><li>R->W at 628</li>										2
P49770	8892		<li>S->F at 171: in ovarioleukodystrophy, MIM: 603896</li><li>E->G at 213: in VWM and ovarioleukodystrophy, MIM: 603896</li><li>K->R at 273: in VWM, MIM: 603896</li><li>V->D at 316: in VWM, MIM: 603896</li><li>G->V at 329: in VWM, MIM: 603896</li>								<li>Leukoencephalopathy with vanishing white matter (VWM) [MIM:603896]</li><li>Ovarioleukodystrophy [MIM:603896]</li>		2
P49788	5918		<li>D->V at 158: in dbSNP:rs11919919</li>									rs11919919	2
P49790	9972		<li>D->N at 90: in dbSNP:rs16879902</li><li>I->V at 248: in dbSNP:rs2228375</li><li>N->K at 402: in dbSNP:rs6906499</li><li>P->L at 821: in dbSNP:rs6905654</li><li>A->T at 827: in dbSNP:rs2274136</li><li>T->A at 1388: in dbSNP:rs45475293</li>									<li>rs6905654</li><li>rs45475293</li><li>rs2274136</li><li>rs6906499</li><li>rs2228375</li><li>rs16879902</li>	2
P49796	5998		<li>R->K at 129: in dbSNP:rs16933949</li>									rs16933949	2
P49798	5999		<li>A->S at 195: in dbSNP:rs14665</li>									rs14665	2
P49815			<li>T->P at 94</li><li>H->R at 137: in TSC; could be a polymorphism, MIM: 191100</li><li>L->V at 160, MIM: 191100</li><li>C->Y at 227: in TSC, MIM: 191100</li><li>K->N at 258: in TSC, MIM: 191100</li><li>R->P at 261: in TSC, MIM: 191100</li><li>R->W at 261, MIM: 191100</li><li>M->T at 286, MIM: 191100</li><li>M->V at 286: in dbSNP:rs1800748, MIM: 191100</li><li>L->P at 292: in TSC, MIM: 191100</li><li>G->E at 294: in TSC, MIM: 191100</li><li>W->WGMALW at 304: in TSC, MIM: 191100</li><li>L->Q at 309, MIM: 191100</li><li>F->L at 320: in TSC; could be a polymorphism characteristic to the Asian population, MIM: 191100</li><li>N->K at 331: in TSC, MIM: 191100</li><li>L->P at 361: in TSC, MIM: 191100</li><li>Missing  at 365: in TSC, MIM: 191100</li><li>R->Q at 367: in dbSNP:rs1800725, MIM: 191100</li><li>P->L at 378, MIM: 191100</li><li>Y->D at 407: in TSC, MIM: 191100</li><li>G->S at 440, MIM: 191100</li><li>M->I at 449: in TSC, MIM: 191100</li><li>I->V at 463, MIM: 191100</li><li>N->I at 486: in TSC, MIM: 191100</li><li>I->V at 490, MIM: 191100</li><li>N->S at 525: in TSC, MIM: 191100</li><li>A->V at 536, MIM: 191100</li><li>A->T at 583: in dbSNP:rs1800729, MIM: 191100</li><li>H->R at 593, MIM: 191100</li><li>K->M at 599: in TSC, MIM: 191100</li><li>A->T at 607, MIM: 191100</li><li>R->Q at 611: in TSC and LAM; impairs phosphorylation at S-1387, S-1418 and S-1420, MIM: 191100</li><li>R->W at 611: in TSC; impairs phosphorylation at S-1387, S-1418 and S-1420, MIM: 191100</li><li>A->D at 614: in TSC, MIM: 191100</li><li>F->S at 615, MIM: 191100</li><li>D->N at 647: in TSC; could be a polymorphism, MIM: 191100</li><li>Missing  at 694: in TSC, MIM: 191100</li><li>C->Y at 696: in TSC, MIM: 191100</li><li>L->R at 717: in TSC, MIM: 191100</li><li>V->E at 769: in TSC; could be a polymorphism, MIM: 191100</li><li>P->L at 816: in TSC, MIM: 191100</li><li>L->M at 826: in TSC, MIM: 191100</li><li>A->V at 862, MIM: 191100</li><li>M->V at 895: in TSC, MIM: 191100</li><li>R->Q at 905: in TSC, MIM: 191100</li><li>R->W at 905: in TSC, MIM: 191100</li><li>V->M at 963: in TSC; could be a polymorphism, MIM: 191100</li><li>L->P at 1027: in TSC, MIM: 191100</li><li>D->E at 1084: in TSC, MIM: 191100</li><li>V->M at 1144: in TSC, MIM: 191100</li><li>R->W at 1200: in TSC, MIM: 191100</li><li>P->L at 1227: in TSC, MIM: 191100</li><li>R->W at 1240: in TSC, MIM: 191100</li><li>S->G at 1282, MIM: 191100</li><li>D->V at 1295: in TSC, MIM: 191100</li><li>P->S at 1315: in TSC, MIM: 191100</li><li>R->H at 1329: in TSC, MIM: 191100</li><li>S->R at 1341, MIM: 191100</li><li>A->S at 1429, MIM: 191100</li><li>P->R at 1450, MIM: 191100</li><li>P->R at 1497: in TSC, MIM: 191100</li><li>S->N at 1498: in TSC, MIM: 191100</li><li>Missing  at 1509: in TSC; could be a rare polymorphism, MIM: 191100</li><li>Y->C at 1549: in TSC, MIM: 191100</li><li>L->M at 1594: in TSC; could be a polymorphism, MIM: 191100</li><li>Missing  at 1614: in TSC, MIM: 191100</li><li>H->Y at 1620: in TSC, MIM: 191100</li><li>D->N at 1636, MIM: 191100</li><li>N->I at 1643: in TSC, MIM: 191100</li><li>N->K at 1643: in TSC, MIM: 191100</li><li>Y->C at 1650: in TSC, MIM: 191100</li><li>N->S at 1651: in TSC, MIM: 191100</li><li>S->F at 1653: in TSC, MIM: 191100</li><li>V->L at 1673, MIM: 191100</li><li>P->L at 1675: in TSC, MIM: 191100</li><li>N->K at 1681: in TSC, MIM: 191100</li><li>D->Y at 1690: in TSC, MIM: 191100</li><li>S->T at 1704: in TSC, MIM: 191100</li><li>P->L at 1709: in TSC, MIM: 191100</li><li>A->E at 1712: in TSC, MIM: 191100</li><li>R->P at 1743: in TSC, MIM: 191100</li><li>R->Q at 1743: in TSC, MIM: 191100</li><li>L->P at 1744: in TSC, MIM: 191100</li><li>Missing  at 1746-1751: in TSC, MIM: 191100</li><li>L->F at 1750: in TSC, MIM: 191100</li><li>H->P at 1773: in TSC, MIM: 191100</li><li>E->Q at 1783: in TSC, MIM: 191100</li><li>G->S at 1787, MIM: 191100</li><li>G->S at 1791, MIM: 191100</li>	phosphorylation	GO:0016310					<li>Q92574</li><li>P55017</li><li>Q9XBQ8</li><li>O34676</li><li>Q9JKL5</li><li>Q96BS2</li><li>P55019</li>	<li>Lymphangioleiomyomatosis (LAM) [MIM:606690]</li><li>Tuberous sclerosis complex (TSC) [MIM:191100]</li>	<li>rs1800725</li><li>rs1800748</li><li>rs1800729</li>	2
P49821	4723		<li>I->V at 76: in dbSNP:rs1800670</li><li>E->K at 214: in complex I deficiency</li><li>N->Y at 277: in dbSNP:rs1043770</li><li>A->V at 341: in mitochondrial complex I deficiency, MIM: 252010</li><li>T->M at 423: in LS, MIM: 256000</li>							Q07842	<li>Leigh syndrome (LS) [MIM:256000]</li><li>Mitochondrial complex I deficiency [MIM:252010]</li>	<li>rs1800670</li><li>rs1043770</li>	2
P49840	2931		<li>Q->E at 109: in dbSNP:rs35978177</li><li>L->F at 461: in dbSNP rsrs35454502</li>									<li>rs35978177</li><li>rs35454502</li>	2
P49848	6878		<li>C->S at 36: in dbSNP:rs4134897</li>									rs4134897	2
P49902	22978		<li>T->A at 3: in dbSNP:rs10883841</li><li>Q->R at 136: in dbSNP:rs12262171</li>									<li>rs12262171</li><li>rs10883841</li>	2
P49908	6414		<li>P->S at 112: in dbSNP rsrs28919895</li><li>A->T at 234: in dbSNP:rs3877899</li><li>R->Q at 278: in dbSNP rsrs28919923</li><li>S->P at 314: in dbSNP rsrs28919925</li><li>R->C at 368: in dbSNP rsrs28919926</li>									<li>rs28919895</li><li>rs28919925</li><li>rs28919926</li><li>rs3877899</li><li>rs28919923</li>	2
P49914	10588		<li>T->A at 202: in dbSNP:rs8923</li>									rs8923	2
P49916	3980		<li>R->W at 137: in dbSNP:rs3744356</li><li>D->N at 630: in a colorectal cancer sample; somatic mutation</li><li>R->H at 780: in dbSNP:rs3136025</li><li>K->T at 811: in dbSNP:rs4986974</li><li>P->S at 899: in dbSNP:rs4986973</li>									<li>rs4986974</li><li>rs4986973</li><li>rs3744356</li><li>rs3136025</li>	2
P49917	3981		<li>A->V at 3: associated with resistance to multiple myeloma; dbSNP:rs1805389</li><li>T->I at 9: associated with resistance to multiple myeloma; dbSNP:rs1805388</li><li>D->H at 62: in dbSNP:rs3093763</li><li>P->S at 231: in dbSNP:rs3093765</li><li>R->H at 278: in LIG4 syndrome and leukemia; impairs activity, MIM: 606593</li><li>Missing  at 433: in RS-SCID, MIM: 606593</li><li>E->G at 461: in dbSNP:rs2232640, MIM: 606593</li><li>G->E at 469: in LIG4 syndrome, MIM: 606593</li><li>L->F at 539: in dbSNP:rs3742212, MIM: 606593</li><li>I->V at 658: in dbSNP:rs2232641, MIM: 606593</li><li>A->T at 857: in dbSNP:rs2232642, MIM: 606593</li>							<li>Q08387</li><li>Q7X7E9</li><li>Q90YB1</li><li>P49917</li><li>Q9LL84</li>	LIG4 syndrome [MIM:606593]	<li>rs2232640</li><li>rs2232641</li><li>rs2232642</li><li>rs1805389</li><li>rs1805388</li><li>rs3742212</li><li>rs3093763</li><li>rs3093765</li>	2
P49918	1028		<li>Missing  at 171-174: in several cancers</li><li>Missing  at 181-184: in hepatocellular carcinomas</li><li>Missing  at 200-203: in a bladder cancer</li><li>Missing  at 206-209: in a breast cancer</li>										2
P49959	4361		<li>S->C at 104: in cancer</li><li>N->S at 117: in ATLD, MIM: 604391</li><li>M->V at 157, MIM: 604391</li><li>F->C at 237: in a breast cancer sample; somatic mutation, MIM: 604391</li><li>H->Y at 302: in a breast cancer sample; somatic mutation, MIM: 604391</li><li>R->W at 305: in ovarian cancer, MIM: 604391</li><li>D->G at 468: in dbSNP:rs1805367, MIM: 604391</li><li>R->H at 503: in cancer, MIM: 604391</li><li>R->Q at 572: in cancer, MIM: 604391</li><li>M->V at 698: in dbSNP:rs1805362, MIM: 604391</li>								Ataxia telangiectasia-like disorder (ATLD) [MIM:604391]	<li>rs1805362</li><li>rs1805367</li>	2
P49961	953		<li>V->I at 293: in dbSNP:rs3793744</li>									rs3793744	2
P50052	186		<li>Y->H at 231: in dbSNP:rs3729977</li><li>R->K at 248: in dbSNP:rs5191</li><li>C->W at 268: in dbSNP:rs1042860</li>									<li>rs5191</li><li>rs3729977</li><li>rs1042860</li>	2
P50053	3795		<li>G->R at 40: in fructosuria, MIM: 229800</li><li>A->T at 43: in fructosuria, MIM: 229800</li><li>V->I at 49: in dbSNP:rs2304681, MIM: 229800</li><li>R->G at 159: either a polymorphism or a cloning artifact, MIM: 229800</li>								Fructosuria [MIM:229800]	rs2304681	2
P50135	3176		<li>T->I at 105: in dbSNP:rs1801105</li>									rs1801105	2
P50219			<li>R->G at 247: in Currarino syndrome, MIM: 176450</li><li>R->H at 247: in Currarino syndrome, MIM: 176450</li><li>T->S at 248: in Currarino syndrome, MIM: 176450</li><li>W->G at 290: in Currarino syndrome, MIM: 176450</li><li>W->L at 290: in Currarino syndrome, MIM: 176450</li><li>Q->P at 292: in Currarino syndrome, MIM: 176450</li><li>R->W at 294: in Currarino syndrome, MIM: 176450</li><li>R->Q at 295: in Currarino syndrome, MIM: 176450</li><li>R->W at 295: in Currarino syndrome, MIM: 176450</li>								Currarino syndrome [MIM:176450]		2
P50221	4222		<li>S->L at 27: in dbSNP:rs9898682</li>									rs9898682	2
P50222	4223		<li>Missing at 79-80</li><li>Missing at 80</li><li>I->L at 287: in dbSNP:rs2237493</li>									rs2237493	2
P50226			<li>T->I at 7</li><li>T->N at 235</li>										2
P50281	4323		<li>A->T at 4: in dbSNP:rs17882219</li><li>R->K at 6: in dbSNP:rs17884647</li><li>S->P at 8: in dbSNP:rs1042703</li><li>I->V at 233: in dbSNP:rs17884841</li><li>D->N at 273: in dbSNP:rs1042704</li><li>R->W at 302: in dbSNP:rs17884719</li><li>M->I at 355: in dbSNP:rs17880989</li><li>R->H at 431: in dbSNP:rs3751489</li>									<li>rs17884647</li><li>rs3751489</li><li>rs17882219</li><li>rs1042704</li><li>rs1042703</li><li>rs17884719</li><li>rs17884841</li><li>rs17880989</li>	2
P50336	5498		<li>R->W at 59: in PV, MIM: 176200</li><li>R->C at 152: in PV, MIM: 176200</li><li>R->C at 168, MIM: 176200</li><li>G->R at 232: in PV, MIM: 176200</li><li>P->R at 256: in dbSNP:rs12735723, MIM: 176200</li><li>R->H at 304: in dbSNP:rs36013429, MIM: 176200</li>							<li>P60168</li><li>Q9EMA9</li><li>P60167</li><li>P60169</li><li>P03422</li><li>P23055</li><li>Q00793</li><li>P19847</li><li>Q06427</li><li>Q06428</li><li>Q03335</li><li>P60166</li><li>P36315</li><li>P19717</li><li>P26033</li><li>P33483</li><li>Q03340</li><li>Q9WS39</li><li>P26036</li><li>P22044</li><li>P35939</li><li>P35974</li><li>Q9IC37</li><li>Q86606</li><li>P06940</li><li>P21740</li><li>P16595</li><li>P30928</li><li>P30927</li><li>P23056</li><li>Q9QM81</li><li>P11208</li><li>P23057</li><li>P11207</li><li>P35945</li><li>P35941</li><li>P21738</li><li>P21739</li><li>P16072</li>	Porphyria variegata (PV) [MIM:176200]	<li>rs36013429</li><li>rs12735723</li>	2
P50391	5540		<li>A->S at 99: in dbSNP:rs2229967</li><li>R->C at 240: in dbSNP:rs3824733</li>									<li>rs2229967</li><li>rs3824733</li>	2
P50416	1374		<li>R->C at 123: in CPT-I deficiency, MIM: 255120</li><li>A->T at 275: in dbSNP:rs2229738, MIM: 255120</li><li>C->W at 304: in CPT-I deficiency, MIM: 255120</li><li>T->I at 314: in CPT-I deficiency, MIM: 255120</li><li>R->G at 316: in CPT-I deficiency, MIM: 255120</li><li>F->V at 343: in CPT-I deficiency, MIM: 255120</li><li>R->W at 357: in CPT-I deficiency; decreased stability, MIM: 255120</li><li>E->G at 360: in CPT-I deficiency; reduced protein levels: in dbSNP rsrs28936372, MIM: 255120</li><li>Missing  at 395: in CPT-I deficiency; loss of activity, MIM: 255120</li><li>A->V at 414: in CPT-I deficiency; decreased activity: in dbSNP rsrs28936373, MIM: 255120</li><li>D->G at 454: in CPT-I deficiency, MIM: 255120</li><li>G->W at 465: in CPT-I deficiency, MIM: 255120</li><li>P->L at 479: in CPT-I deficiency; decreased activity, MIM: 255120</li><li>L->P at 484: in CPT-I deficiency, MIM: 255120</li><li>Y->C at 498: in CPT-I deficiency; decreased activity, MIM: 255120</li><li>G->E at 709: in CPT-I deficiency; loss of activity: in dbSNP rsrs28936374, MIM: 255120</li><li>G->E at 710: in CPT-I deficiency; loss of activity, MIM: 255120</li>							<li>P32198</li><li>Q924X2</li><li>Q58DK1</li><li>Q63704</li><li>P50416</li><li>Q92523</li><li>Q68Y62</li><li>P97742</li><li>Q8HY46</li>	Carnitine palmitoyltransferase I deficiency (CPT-I deficiency) [MIM:255120]	<li>rs28936373</li><li>rs28936374</li><li>rs28936372</li><li>rs2229738</li>	2
P50440	2628		<li>Q->H at 110: in dbSNP:rs1288775</li>									rs1288775	2
P50443	1836		<li>G->E at 255: in AO2, MIM: 256050</li><li>R->W at 279: in AO2, MIM: 256050</li><li>Missing  at 340: in ACG1B, MIM: 256050</li><li>N->D at 425: in ACG1B, MIM: 600972</li><li>Q->P at 454: in diatrophic dysplasia; broad bone-platyspondylic variant, MIM: 600972</li><li>C->S at 653: in EDM4, MIM: 226900</li><li>G->V at 678: in ACG1B, MIM: 600972</li><li>T->S at 689: in dbSNP:rs3776070, MIM: 600972</li><li>A->V at 715: in AO2, MIM: 256050</li>							Q7G191	<li>Achondrogenesis type 1B (ACG1B) [MIM:600972]</li><li>Multiple epiphyseal dysplasia type 4 (EDM4) [MIM:226900]</li><li>Atelosteogenesis type 2 (AO2) [MIM:256050]</li>	rs3776070	2
P50452	5271		<li>R->Q at 68: in dbSNP:rs1944270</li><li>K->N at 158: in dbSNP:rs1648493</li><li>T->A at 304: in dbSNP:rs3169983</li><li>H->R at 359: in dbSNP:rs3826616</li>									<li>rs3826616</li><li>rs1648493</li><li>rs3169983</li><li>rs1944270</li>	2
P50454	871		<li>A->P at 41: in dbSNP:rs7105528</li>									rs7105528	2
P50461	8048		<li>W->R at 4: in CMD1M: in dbSNP rsrs45550635, MIM: 607482</li><li>L->P at 44: in CMH12, MIM: 612124</li><li>SE->RG at 54-55: in CMH12, MIM: 612124</li><li>C->G at 58: in CMH12, MIM: 612124</li>								<li>Cardiomyopathy familial hypertrophic type 12 (CMH12) [MIM:612124]</li><li>Cardiomyopathy dilated type 1M (CMD1M) [MIM:607482]</li>	rs45550635	2
P50479	8572		<li>R->G at 118: in dbSNP:rs17851430</li><li>R->C at 142: in dbSNP:rs1050805</li><li>V->I at 184: in dbSNP:rs175218</li><li>G->C at 259: in dbSNP:rs4877</li>									<li>rs17851430</li><li>rs175218</li><li>rs1050805</li><li>rs4877</li>	2
P50502	6767		<li>M->I at 297: in dbSNP:rs710193</li>									rs710193	2
P50539	4601		<li>E->A at 152: in prostate cancer</li>										2
P50549	2115		<li>S->G at 100: in dbSNP:rs9639168</li>									rs9639168	2
P50553	429		<li>E->G at 158: in dbSNP:rs1803157</li>									rs1803157	2
P50570	1785		<li>P->L at 263: in dbSNP:rs3745674</li><li>E->K at 368: in ADCNM, MIM: 160150</li><li>R->Q at 369: in ADCNM, MIM: 160150</li><li>R->W at 369: in ADCNM; reduced association with the centrosome, MIM: 160150</li><li>R->W at 465: in ADCNM; reduced association with the centrosome, MIM: 160150</li><li>Missing  at 555-557: in CMTDIB; may affect binding to vesicles and membranes in favor of binding to microtubules; may affect receptor-mediated endocytosis, MIM: 160150</li><li>K->E at 562: in CMTDIB; with neutropenia, MIM: 606482</li><li>A->T at 618: in ADCNM; severe, MIM: 160150</li><li>S->L at 619: in ADCNM; severe, MIM: 160150</li><li>S->W at 619: in ADCNM; severe, MIM: 160150</li><li>Missing  at 625: in ADCNM; severe, MIM: 160150</li>	receptor-mediated endocytosis	GO:0006898	binding	GO:0005488	<li>centrosome</li><li>membranes</li><li>microtubules</li>	<li>GO:0005813</li><li>GO:0016020</li><li>GO:0005874</li>		<li>Charcot-Marie-Tooth disease dominant intermediate type B (CMTDIB) [MIM:606482]</li><li>Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]</li>	rs3745674	2
P50591	8743		<li>V->I at 33: in dbSNP:rs6763816</li><li>D->E at 47: in dbSNP:rs16845759</li>									<li>rs6763816</li><li>rs16845759</li>	2
P50616	10140		<li>K->R at 319: in dbSNP:rs3316</li>									rs3316	2
P50747	3141		<li>E->D at 42: in HLCS deficiency and a breast cancer sample; somatic mutation; conserves enzynatic wild-type activity; could be a polymorphism, MIM: 253270</li><li>R->P at 183: in HLCS deficiency; has normal or low KM values for biotin , MIM: 253270</li><li>L->R at 216: in HLCS deficiency; has normal or low KM values for biotin : in dbSNP rsrs28934602, MIM: 253270</li><li>L->P at 237: in HLCS deficiency; has normal or low KM values for biotin , MIM: 253270</li><li>V->E at 333: in HLCS deficiency; <10% activity; has normal or low KM values for biotin , MIM: 253270</li><li>R->S at 360: in HLCS deficiency; 22% activity; shows elevated KM values for biotin , MIM: 253270</li><li>V->D at 363: in HLCS deficiency; has normal or low KM values for biotin , MIM: 253270</li><li>Y->C at 456: in HLCS deficiency; 0.2% activity, MIM: 253270</li><li>T->I at 462: in HLCS deficiency; <10% activity, MIM: 253270</li><li>L->S at 470: in HLCS deficiency; 4.3% activity, MIM: 253270</li><li>R->W at 508: in HLCS deficiency, MIM: 253270</li><li>N->K at 511: in HLCS deficiency, MIM: 253270</li><li>G->E at 518: in HLCS deficiency, MIM: 253270</li><li>V->G at 547: in HLCS deficiency; 3.4% activity, MIM: 253270</li><li>V->M at 550: in HLCS deficiency, MIM: 253270</li><li>D->N at 571: in HLCS deficiency; almost no activity, MIM: 253270</li><li>G->S at 581: in HLCS deficiency; <10% activity, MIM: 253270</li><li>G->R at 582: in HLCS deficiency, MIM: 253270</li><li>Missing  at 610: in HLCS deficiency; 14% of activity; shows elevated KM values for biotin , MIM: 253270</li><li>D->Y at 615: in HLCS deficiency, MIM: 253270</li><li>D->N at 634: in HLCS deficiency, MIM: 253270</li><li>D->Y at 634: in HLCS deficiency; 12% activity, MIM: 253270</li><li>D->G at 715: in HLCS deficiency, MIM: 253270</li>							P50747	Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	rs28934602	2
P50748	9735		<li>K->N at 245: in dbSNP:rs7968222</li><li>E->D at 738: in dbSNP:rs17883249</li><li>T->M at 1506: in dbSNP:rs35315099</li><li>P->L at 1830: in dbSNP:rs7310898</li><li>V->G at 2021: in dbSNP:rs11837038</li>									<li>rs7968222</li><li>rs11837038</li><li>rs17883249</li><li>rs7310898</li><li>rs35315099</li>	2
P50749	9770		<li>R->H at 144: in a colorectal cancer sample; somatic mutation</li>										2
P50851	987		<li>Q->H at 2038: in a breast cancer sample; somatic mutation</li><li>G->R at 2274: in a breast cancer sample; somatic mutation</li><li>T->K at 2701: in a breast cancer sample; somatic mutation</li><li>S->L at 2809: in dbSNP:rs2290846</li>									rs2290846	2
P50876	9781		<li>T->A at 4: in dbSNP:rs364891</li>									rs364891	2
P50895	4059	<ul><li>S->A at 621: Dramatically reduced cell adhesion</li></ul>	<li>R->H at 77: in dbSNP:rs28399653</li><li>V->I at 196: in dbSNP:rs28399654</li><li>M->K at 204: in dbSNP:rs28399656</li><li>R->H at 282: in dbSNP:rs9967601</li><li>V->I at 381: in dbSNP:rs28399626</li><li>K->Q at 451: in dbSNP rsrs28399630</li><li>T->A at 539: in dbSNP:rs1135062</li><li>Q->L at 581: in dbSNP:rs28399659</li>	cell adhesion	GO:0007155							<li>rs1135062</li><li>rs28399630</li><li>rs28399654</li><li>rs28399626</li><li>rs28399653</li><li>rs28399656</li><li>rs9967601</li><li>rs28399659</li>	3
P50897	5538		<li>H->Q at 39: in CLN1, MIM: 256730</li><li>G->E at 42: in CLN1, MIM: 256730</li><li>T->P at 75: in CLN1; juvenile onset, MIM: 256730</li><li>D->G at 79: in CLN1; juvenile onset, MIM: 256730</li><li>G->R at 108: in CLN4, MIM: 204300</li><li>Y->D at 109: in CLN1, MIM: 256730</li><li>R->W at 122: in CLN1; seems to results in intracellular accumulation of the enzyme, MIM: 256730</li><li>I->T at 134: in dbSNP:rs1800205, MIM: 256730</li><li>Q->E at 177: in CLN1, MIM: 256730</li><li>V->L at 181: in CLN1, MIM: 256730</li><li>V->M at 181: in CLN1, MIM: 256730</li><li>L->Q at 219: in CLN1; juvenile onset, MIM: 256730</li><li>Y->H at 247: in CLN1, MIM: 256730</li><li>G->V at 250: in CLN1, MIM: 256730</li>					intracellular	GO:0005622	<li>P25693</li><li>P20437</li><li>P24866</li>	<li>Infantile neuronal ceroid lipofuscinosis 1 (CLN1) [MIM:256730]</li><li>Neuronal ceroid lipofuscinosis 4 (CLN4) [MIM:204300]</li>	rs1800205	2
P50914	9045		<li>A->S at 138</li><li>Missing at 158-159</li><li>A->AA at 159</li><li>A->AAA at 159</li><li>A->AAAA at 159</li><li>A->AAAAA at 159</li><li>A->AAAAAA at 159</li><li>A->AAAAAAAA at 159</li>										2
P50990	10694		<li>H->Q at 4: in dbSNP:rs16983693</li><li>V->I at 409: in dbSNP:rs8129954</li>									<li>rs8129954</li><li>rs16983693</li>	2
P50991	10575		<li>I->V at 112: in dbSNP:rs2272428</li>									rs2272428	2
P50993	477		<li>T->N at 378: in AHC: in dbSNP rsrs28934002, MIM: 104290</li><li>R->Q at 689: in FHM2: in dbSNP rsrs28933401, MIM: 602481</li><li>M->T at 731: in FHM2: in dbSNP rsrs28933400, MIM: 602481</li><li>L->P at 764: in FHM2; loss of function: in dbSNP rsrs28933398, MIM: 602481</li><li>W->R at 887: in FHM2; loss of function: in dbSNP rsrs28933399, MIM: 602481</li>							P51843	<li>Alternating hemiplegia of childhood (AHC) [MIM:104290]</li><li>Familial hemiplegic migraine 2 (FHM2) [MIM:602481]</li>	<li>rs28933398</li><li>rs28933399</li><li>rs28933401</li><li>rs28933400</li><li>rs28934002</li>	2
P50995	311		<li>R->Q at 191: in dbSNP:rs2229554</li><li>R->C at 230: in dbSNP:rs1049550</li><li>I->V at 457: in dbSNP:rs1802932</li>									<li>rs1802932</li><li>rs1049550</li><li>rs2229554</li>	2
P51114	8087		<li>A->T at 233: in a breast cancer sample; somatic mutation</li><li>D->N at 429: in dbSNP:rs1051080</li><li>A->V at 614: in dbSNP:rs11499</li>									<li>rs11499</li><li>rs1051080</li>	2
P51124	3004		<li>G->R at 221: in dbSNP:rs1599882</li>									rs1599882	2
P51148	5878		<li>R->H at 40: in a colorectal cancer sample; somatic mutation</li>										2
P51159	5873		<li>T->S at 62: in dbSNP:rs1050930</li><li>W->G at 73: in GS2; does not affect GTP binding; cannot interact with MLPH: in dbSNP rsrs28938176, MIM: 607624</li><li>L->F at 84: in dbSNP:rs4340274, MIM: 607624</li><li>T->P at 85: in dbSNP:rs719705, MIM: 607624</li><li>L->P at 130: in GS2; strongly affects GTP binding; cannot interact with MLPH, MIM: 607624</li><li>A->P at 152: in GS2; may affect GTP binding; interferes with melanosome transport, MIM: 607624</li>	transport	GO:0006810	GTP binding	GO:0005525	melanosome	GO:0042470	<li>P41247</li><li>O22506</li><li>Q43127</li><li>Q9BV36</li><li>Q9XQ94</li><li>P25462</li><li>P08281</li><li>Q42689</li><li>Q42624</li><li>P14655</li>	Griscelli syndrome type-2 (GS2) [MIM:607624]	<li>rs4340274</li><li>rs719705</li><li>rs1050930</li><li>rs28938176</li>	2
P51160	5146		<li>D->E at 157: rare polymorphism</li><li>S->T at 270: in dbSNP:rs701865</li><li>E->A at 699: in dbSNP:rs12261131</li><li>K->N at 822: rare polymorphism</li><li>E->G at 834: rare polymorphism</li>									<li>rs701865</li><li>rs12261131</li>	2
P51161	2172		<li>R->H at 33: in dbSNP:rs17856662</li><li>S->Y at 55: in dbSNP:rs17852045</li><li>T->M at 79: in dbSNP:rs1130435</li>									<li>rs1130435</li><li>rs17856662</li><li>rs17852045</li>	2
P51168	6338		<li>G->S at 37: in PHA1, MIM: 264350</li><li>A->V at 311: in a colorectal cancer sample; somatic mutation, MIM: 264350</li><li>A->V at 314: in a breast cancer sample; somatic mutation, MIM: 264350</li><li>A->P at 336, MIM: 264350</li><li>L->V at 387: in a breast cancer sample; somatic mutation, MIM: 264350</li><li>V->M at 434, MIM: 264350</li><li>G->V at 442: in dbSNP:rs1799980, MIM: 264350</li><li>R->Q at 563: associated with hypertension in South African Black, MIM: 264350</li><li>G->S at 589, MIM: 264350</li><li>T->M at 594: in dbSNP:rs1799979, MIM: 264350</li><li>R->H at 597, MIM: 264350</li><li>P->L at 616: in Liddle syndrome, MIM: 177200</li><li>P->S at 616: in Liddle syndrome, MIM: 177200</li><li>P->S at 617: in Liddle syndrome, MIM: 177200</li><li>P->R at 618: in Liddle syndrome, MIM: 177200</li><li>Y->H at 620: in Liddle syndrome; constitutive channel activation, MIM: 177200</li><li>R->C at 624, MIM: 177200</li><li>E->G at 632, MIM: 177200</li>								<li>Liddle syndrome [MIM:177200]</li><li>Autosomal recessive pseudohypoaldosteronism type 1 (PHA1) [MIM:264350]</li>	<li>rs1799980</li><li>rs1799979</li>	2
P51170	6340		<li>G->C at 49: in dbSNP:rs5733</li><li>G->R at 58: in a colorectal cancer sample; somatic mutation</li><li>R->W at 178</li><li>G->S at 183: in dbSNP:rs5736</li><li>E->K at 197: in dbSNP:rs5738</li><li>A->P at 502</li><li>A->S at 614</li>									<li>rs5738</li><li>rs5733</li><li>rs5736</li>	2
P51172	6339		<li>R->P at 180: in dbSNP:rs11260579</li><li>E->Q at 380: in dbSNP:rs2228579</li><li>A->T at 472: in dbSNP:rs13306651</li><li>C->Y at 532: in dbSNP:rs1053844</li><li>G->S at 562: in dbSNP:rs6690013</li><li>G->R at 606: in dbSNP:rs609805</li>									<li>rs6690013</li><li>rs11260579</li><li>rs2228579</li><li>rs1053844</li><li>rs609805</li><li>rs13306651</li>	2
P51178	5333		<li>R->H at 257: in dbSNP:rs933135</li>									rs933135	2
P51451	640		<li>T->I at 48: in dbSNP:rs35339715</li><li>A->T at 71: in a colorectal adenocarcinoma sample; somatic mutation: in dbSNP rsrs55758736</li>									<li>rs55758736</li><li>rs35339715</li>	2
P51460	3640		<li>A->G at 24</li><li>V->L at 43</li><li>P->S at 49: could be a rare polymorphism; identified in a male with undermasculinised genitalia and intra-abdominal testes</li><li>A->T at 60: common polymorphism; dbSNP:rs6523</li><li>P->L at 93: in cryptorchidism, MIM: 219050</li><li>R->C at 102: in cryptorchidism, MIM: 219050</li><li>R->H at 102, MIM: 219050</li><li>N->K at 110: in cryptorchidism, MIM: 219050</li>								Cryptorchidism [MIM:219050]	rs6523	2
P51504	7634		<li>R->H at 201: in dbSNP:rs6438191</li><li>D->A at 253: in dbSNP:rs3732782</li>									<li>rs3732782</li><li>rs6438191</li>	2
P51508	347344		<li>A->V at 3</li><li>G->V at 117: in dbSNP:rs17147793</li><li>N->S at 157: in dbSNP rsrs41312157</li><li>S->N at 179: in MRX45: in dbSNP rsrs28933691, MIM: 300498</li><li>S->L at 185, MIM: 300498</li><li>A->E at 213: in dbSNP:rs537825, MIM: 300498</li><li>I->V at 499, MIM: 300498</li>								Mental retardation X-linked type 45 (MRX45) [MIM:300498]	<li>rs41312157</li><li>rs537825</li><li>rs28933691</li><li>rs17147793</li>	2
P51511	4324		<li>L->P at 200: in dbSNP rsrs41340745</li><li>P->L at 350: in dbSNP rsrs41335851</li><li>D->G at 596: in dbSNP rsrs41504346</li><li>G->R at 609: in dbSNP:rs3743563</li><li>R->W at 622: in dbSNP:rs41434246</li>									<li>rs41504346</li><li>rs41340745</li><li>rs3743563</li><li>rs41335851</li><li>rs41434246</li>	2
P51531	6595		<li>G->A at 1416: in dbSNP:rs3793510</li><li>D->E at 1546: in dbSNP:rs2296212</li>									<li>rs3793510</li><li>rs2296212</li>	2
P51532	6597		<li>V->E at 561: in dbSNP:rs1804579</li><li>M->I at 1036: in dbSNP:rs1801514</li>									<li>rs1804579</li><li>rs1801514</li>	2
P51570	2584		<li>P->T at 28: in galactosemia II; founder Romani mutation, MIM: 230200</li><li>V->M at 32: in galactosemia II, MIM: 230200</li><li>G->R at 36: in galactosemia II, MIM: 230200</li><li>H->Y at 44: in galactosemia II, MIM: 230200</li><li>R->C at 68: in galactosemia II, MIM: 230200</li><li>I->M at 184, MIM: 230200</li><li>A->V at 198: in galactosemia II; mild deficiency; Osaka, MIM: 230200</li><li>R->Q at 239: in galactosemia II, MIM: 230200</li><li>G->D at 274, MIM: 230200</li><li>T->M at 288: in galactosemia II, MIM: 230200</li><li>V->A at 338, MIM: 230200</li><li>G->S at 346: in galactosemia II, MIM: 230200</li><li>G->S at 349: in galactosemia II, MIM: 230200</li><li>A->P at 384: in galactosemia II, MIM: 230200</li>								Galactosemia II [MIM:230200]		2
P51575	5023		<li>Missing  at 351: in bleeding disorder</li><li>M->V at 396: in dbSNP:rs34617528</li>									rs34617528	2
P51580	7172		<li>L->S at 49: allele TPMT*5</li><li>A->P at 80: in TPMT deficiency; allele TPMT*2; 100-fold reduction in activity; protein shows enhanced degradation; TPMT*2 allele frequency is 0.5%; seems to be restricted to the Caucasian population; dbSNP:rs1800462, MIM: 610460</li><li>A->T at 154: in TPMT deficiency; allele TPMT*3A and allele TPMT*3B; lower activity; protein shows enhanced degradation; TPMT*3A is most common mutant in American Caucasians; TPMT*3A allele frequencies are 4.5% in the Caucasian; 0.8% in the African Americans and 3.2% in the Caucasian Americans population; dbSNP:rs1800460, MIM: 610460</li><li>Q->H at 179: in dbSNP:rs6921269, MIM: 610460</li><li>Y->F at 180: allele TPMT*6, MIM: 610460</li><li>R->H at 215: in TPMT deficiency; allele TPMT*8; intermediate activity: in dbSNP rsrs56161402, MIM: 610460</li><li>H->Q at 227: in TPMT deficiency; allele TPMT*7, MIM: 610460</li><li>Y->C at 240: in TPMT deficiency; allele TPMT*3B and allele TPMT*3C; lower activity; protein shows enhanced degradation; TPMT*3C is the most common mutant in African-Americans and the only allele in the Japanese and Taiwanese individuals; TPMT*3C frequencies are 7.6% in Ghanaian and 0.3% in Caucasian individuals; dbSNP:rs1142345, MIM: 610460</li>							<li>Q3BCR2</li><li>Q3BCR1</li><li>Q3BCR0</li><li>Q6EIC1</li><li>Q3BCR6</li><li>Q5RBJ3</li><li>Q3BCR5</li><li>Q3BCR4</li><li>Q3BCR3</li><li>Q3BCR9</li><li>Q3BCR8</li><li>Q3BCQ8</li><li>P51580</li><li>Q8HX86</li>	Thiopurine S-methyltransferase deficiency (TPMT deficiency) [MIM:610460]	<li>rs1800462</li><li>rs1142345</li><li>rs56161402</li><li>rs6921269</li><li>rs1800460</li>	2
P51587	675		<li>G->R at 25: in BC; abolishes interaction with PALB2, MIM: 600185</li><li>W->C at 31: in BC; abolishes interaction with PALB2, MIM: 600185</li><li>W->R at 31: in BC; abolishes interaction with PALB2, MIM: 600185</li><li>F->L at 32: in BC, MIM: 600185</li><li>Y->C at 42: in BC and ovarian cancer; unknown pathological significance; dbSNP:rs4987046, MIM: 600185</li><li>K->R at 53: in BC, MIM: 600185</li><li>N->S at 60: in BC; unknown pathological significance, MIM: 600185</li><li>T->I at 64: in BC, MIM: 600185</li><li>A->P at 75: in ovarian cancer and renal cancer; could be a polymorphism; dbSNP:rs28897701, MIM: 600185</li><li>F->L at 81: in BC, MIM: 600185</li><li>N->H at 108, MIM: 600185</li><li>R->H at 118: in one patient with esophageal carcinoma, MIM: 600185</li><li>M->T at 192: in one patient with pancreatic cancer, MIM: 600185</li><li>P->R at 201: in BC, MIM: 600185</li><li>V->A at 211: in BC, MIM: 600185</li><li>P->S at 222: in BC, MIM: 600185</li><li>T->A at 225: in one patient with BC; normal RNA expression and splicing, MIM: 600185</li><li>N->H at 289: common polymorphism; was originally thought to be linked to ovarian cancer; dbSNP:rs766173, MIM: 600185</li><li>C->S at 315: in one patient with esophageal carcinoma, MIM: 600185</li><li>K->Q at 322: in dbSNP:rs11571640, MIM: 600185</li><li>S->R at 326: in BC; dbSNP:rs28897706, MIM: 600185</li><li>K->E at 327: in BC; could be a polymorphism, MIM: 600185</li><li>V->L at 355: in lung cancer, MIM: 600185</li><li>H->N at 372: common polymorphism; associated with an increased risk of breast cancer and with an effect on prenatal viability with increased fitness of males and decreased fitness of females; dbSNP:rs144848, MIM: 600185</li><li>G->R at 405: in BC; unknown pathological significance, MIM: 600185</li><li>T->I at 431: in BC; unknown pathological significance, MIM: 600185</li><li>R->H at 448: in BC; unknown pathological significance, MIM: 600185</li><li>E->G at 462: in BC; unknown pathological significance: in dbSNP rsrs56403624, MIM: 600185</li><li>I->T at 505: in BC; dbSNP:rs28897708, MIM: 600185</li><li>C->W at 554: in BC and pancreas cancer, MIM: 600185</li><li>T->P at 582, MIM: 600185</li><li>T->A at 598: in dbSNP:rs28897710, MIM: 600185</li><li>S->F at 599: in dbSNP:rs1046984, MIM: 600185</li><li>L->R at 613: in BC; unknown pathological significance, MIM: 600185</li><li>T->I at 630: in ovarian cancer, MIM: 600185</li><li>D->Y at 707, MIM: 600185</li><li>D->A at 728: in BC, MIM: 600185</li><li>I->M at 729: in BC, MIM: 600185</li><li>M->V at 784: in dbSNP:rs11571653, MIM: 600185</li><li>N->I at 886, MIM: 600185</li><li>L->S at 929: in dbSNP:rs2227943, MIM: 600185</li><li>D->N at 935: in BC; could be a polymorphism; dbSNP:rs28897716, MIM: 600185</li><li>S->F at 976: in dbSNP:rs11571656, MIM: 600185</li><li>N->I at 987: in dbSNP:rs2227944, MIM: 600185</li><li>N->D at 991: common polymorphism; dbSNP:rs1799944, MIM: 600185</li><li>E->K at 1036: in BC; unknown pathological significance, MIM: 600185</li><li>S->R at 1106: in BC; unknown pathological significance, MIM: 600185</li><li>N->S at 1147: in dbSNP:rs1799951, MIM: 600185</li><li>S->L at 1172: in BC; unknown pathological significance, MIM: 600185</li><li>S->N at 1179: in BC, MIM: 600185</li><li>N->S at 1279, MIM: 600185</li><li>Missing at 1286, MIM: 600185</li><li>C->Y at 1290: in dbSNP rsrs41293485, MIM: 600185</li><li>Missing  at 1302: in BC, MIM: 600185</li><li>T->M at 1414, MIM: 600185</li><li>D->Y at 1420: in dbSNP rsrs28897727, MIM: 600185</li><li>K->T at 1445: in BC; unknown pathological significance, MIM: 600185</li><li>D->N at 1513, MIM: 600185</li><li>L->F at 1522: in one patient with BC, MIM: 600185</li><li>F->V at 1524: in BC; unknown pathological significance: in dbSNP rsrs56386506, MIM: 600185</li><li>G->R at 1529: in bladder cancer: in dbSNP rsrs28897728, MIM: 600185</li><li>H->N at 1561: in dbSNP rsrs2219594, MIM: 600185</li><li>C->Y at 1580: in BC; somatic mutation, MIM: 600185</li><li>E->D at 1593, MIM: 600185</li><li>T->I at 1679: in BC, MIM: 600185</li><li>K->N at 1690: in BC: in dbSNP rsrs56087561, MIM: 600185</li><li>N->Y at 1730: in BC, MIM: 600185</li><li>G->D at 1771: in BC; unknown pathological significance, MIM: 600185</li><li>V->A at 1804: in BC, MIM: 600185</li><li>N->S at 1805, MIM: 600185</li><li>N->K at 1880: polymorphism; was originally thought to be linked to breast cancer: in dbSNP rsrs11571657, MIM: 600185</li><li>T->M at 1887: in BC, MIM: 600185</li><li>E->K at 1901: in BC, MIM: 600185</li><li>D->N at 1902: in dbSNP rsrs4987048, MIM: 600185</li><li>T->M at 1915: may be a rare polymorphism; somatic mutation: in dbSNP rsrs4987117, MIM: 600185</li><li>I->V at 1929: in BC; unknown pathological significance, MIM: 600185</li><li>V->I at 1988: in one patient with esophageal carcinoma; somatic mutation: in dbSNP rsrs28897739, MIM: 600185</li><li>T->A at 2031: in BC; unknown pathological significance, MIM: 600185</li><li>R->C at 2034: in dbSNP:rs1799954, MIM: 600185</li><li>G->V at 2044: in one patient with BC: in dbSNP rsrs56191579, MIM: 600185</li><li>S->C at 2072: in BC, MIM: 600185</li><li>H->N at 2074: in dbSNP rsrs34309943, MIM: 600185</li><li>E->D at 2089: in BC, MIM: 600185</li><li>Y->C at 2094: in BC, MIM: 600185</li><li>P->L at 2096: in BC, MIM: 600185</li><li>R->C at 2108: in dbSNP rsrs55794205, MIM: 600185</li><li>V->L at 2118: in BC; unknown pathological significance, MIM: 600185</li><li>K->N at 2128: in BC, MIM: 600185</li><li>N->H at 2135: in BC, MIM: 600185</li><li>V->F at 2138: in dbSNP rsrs11571659, MIM: 600185</li><li>K->R at 2162: in dbSNP rsrs11571660, MIM: 600185</li><li>Y->C at 2222: in BC, MIM: 600185</li><li>G->V at 2274: in BC: in dbSNP rsrs55712212, MIM: 600185</li><li>E->G at 2275: in BC; unknown pathological significance, MIM: 600185</li><li>F->L at 2293: in BC; unknown pathological significance, MIM: 600185</li><li>R->H at 2336: in FANCD1, MIM: 605724</li><li>G->R at 2353: in BC; unknown pathological significance, MIM: 600185</li><li>H->N at 2415: in BC, MIM: 600185</li><li>Q->H at 2421: in BC, MIM: 600185</li><li>H->R at 2440: in dbSNP rsrs4986860, MIM: 600185</li><li>Q->E at 2456: in BC, MIM: 600185</li><li>A->V at 2466: polymorphism; was originally thought to be linked to ovarian cancer: in dbSNP rsrs169547, MIM: 600185</li><li>L->V at 2480, MIM: 600185</li><li>R->K at 2488: in BC; unknown pathological significance, MIM: 600185</li><li>I->T at 2490: in dbSNP rsrs11571707, MIM: 600185</li><li>R->H at 2502: in ovarian cancer; could be a polymorphism, MIM: 600185</li><li>L->P at 2510: in FANCD1, MIM: 605724</li><li>T->I at 2515: in BC; could be a polymorphism: in dbSNP rsrs28897744, MIM: 600185</li><li>W->C at 2626: in FANCD1, MIM: 605724</li><li>N->S at 2706, MIM: 605724</li><li>T->R at 2722: in BC, MIM: 600185</li><li>D->H at 2723: in BC; unknown pathological significance: in dbSNP rsrs41293511, MIM: 600185</li><li>V->I at 2728: in BC: in dbSNP rsrs28897749, MIM: 600185</li><li>K->N at 2729: in BC, MIM: 600185</li><li>R->H at 2787: in ovarian cancer; somatic mutation, MIM: 600185</li><li>G->R at 2793: in BC; unknown pathological significance, MIM: 600185</li><li>S->P at 2835: in dbSNP rsrs11571746, MIM: 600185</li><li>R->C at 2842: in one patient with esophageal carcinoma; somatic mutation, MIM: 600185</li><li>E->A at 2856: in dbSNP rsrs11571747, MIM: 600185</li><li>I->F at 2944: in dbSNP rsrs4987047, MIM: 600185</li><li>K->N at 2950: in BC; unknown pathological significance: in dbSNP rsrs28897754, MIM: 600185</li><li>A->T at 2951: in dbSNP rsrs11571769, MIM: 600185</li><li>V->M at 2969: in dbSNP rsrs59004709, MIM: 600185</li><li>T->I at 3013: in BC; unknown pathological significance: in dbSNP rsrs28897755, MIM: 600185</li><li>P->S at 3063: in a patient with ovarian cancer; unknown pathological significance, MIM: 600185</li><li>G->E at 3076, MIM: 600185</li><li>D->E at 3095, MIM: 600185</li><li>Y->H at 3098: in BC and ovarian cancer; could be a polymorphism: in dbSNP rsrs41293521, MIM: 600185</li><li>I->M at 3103: in melanoma, MIM: 600185</li><li>M->T at 3118: in BC: in dbSNP rsrs56204128, MIM: 600185</li><li>N->I at 3124: in BC: in dbSNP rsrs28897759, MIM: 600185</li><li>K->E at 3196: in BC, MIM: 600185</li><li>V->I at 3244: in dbSNP rsrs11571831, MIM: 600185</li><li>K->R at 3257: in dbSNP rsrs55847618, MIM: 600185</li><li>R->S at 3276, MIM: 600185</li><li>P->S at 3300: in one patient with esophageal carcinoma, MIM: 600185</li><li>T->R at 3357: in BC, MIM: 600185</li><li>T->I at 3374: in dbSNP rsrs56309455, MIM: 600185</li><li>I->V at 3412: polymorphism; was originally thought to be associated with breast cancer; dbSNP:rs1801426, MIM: 600185</li>							<li>P51587</li><li>Q864S8</li><li>Q86YC2</li>	<li>Breast cancer (BC) [MIM:600185, 114480]</li><li>Fanconi anemia complementation group D type 1 (FANCD1) [MIM:605724]</li>	<li>rs55794205</li><li>rs1046984</li><li>rs1799944</li><li>rs11571831</li><li>rs28897739</li><li>rs11571769</li><li>rs56309455</li><li>rs56204128</li><li>rs41293511</li><li>rs2219594</li><li>rs11571660</li><li>rs34309943</li><li>rs28897706</li><li>rs144848</li><li>rs28897701</li><li>rs1799954</li><li>rs28897749</li><li>rs28897744</li><li>rs11571657</li><li>rs11571656</li><li>rs55712212</li><li>rs11571659</li><li>rs1799951</li><li>rs56087561</li><li>rs41293521</li><li>rs11571653</li><li>rs28897708</li><li>rs11571707</li><li>rs1801426</li><li>rs56386506</li><li>rs28897710</li><li>rs56191579</li><li>rs169547</li><li>rs28897716</li><li>rs59004709</li><li>rs4986860</li><li>rs11571640</li><li>rs11571746</li><li>rs28897755</li><li>rs2227944</li><li>rs11571747</li><li>rs2227943</li><li>rs28897759</li><li>rs28897754</li><li>rs55847618</li><li>rs28897728</li><li>rs28897727</li><li>rs4987048</li><li>rs4987047</li><li>rs4987046</li><li>rs766173</li><li>rs4987117</li><li>rs41293485</li><li>rs56403624</li>	2
P51589	1573		<li>R->S at 49: in dbSNP:rs11572190</li><li>V->M at 113: in dbSNP:rs11572242</li><li>N->S at 124: in dbSNP:rs2228113</li><li>T->A at 143: in allele CYP2J2*2; significantly reduced metabolism of both arachidonic acid and linoleic acid: in dbSNP rsrs55753213</li><li>R->C at 158: in allele CYP2J2*3; significantly reduced metabolism of both arachidonic acid and linoleic acid: in dbSNP rsrs56307989</li><li>I->N at 192: in allele CYP2J2*4; significantly reduced metabolism of arachidonic acid only</li><li>D->N at 342: in allele CYP2J2*5; no change in activity: in dbSNP rsrs56053398</li><li>N->Y at 404: in allele CYP2J2*6; significantly reduced metabolism of both arachidonic acid and linoleic acid</li>							P51589		<li>rs56053398</li><li>rs56307989</li><li>rs2228113</li><li>rs11572190</li><li>rs11572242</li><li>rs55753213</li>	2
P51606			<li>Q->R at 159: in dbSNP:rs2229241</li><li>D->G at 274: in dbSNP:rs2269371</li>									<li>rs2229241</li><li>rs2269371</li>	2
P51608	4204		<li>E->Q at 10: in RTT, MIM: 312750</li><li>S->C at 86, MIM: 312750</li><li>D->E at 97: in RTT, MIM: 312750</li><li>D->Y at 97: in RTT, MIM: 312750</li><li>L->R at 100: in RTT, MIM: 312750</li><li>L->V at 100: in RTT; dbSBP:rs28935168, MIM: 312750</li><li>P->H at 101: in RTT, MIM: 312750</li><li>P->L at 101: in RTT, MIM: 312750</li><li>P->R at 101: in RTT; also in a patient with Angelman syndrome and some typical RTT features, MIM: 312750</li><li>P->S at 101: in RTT, MIM: 312750</li><li>P->T at 101: in RTT, MIM: 312750</li><li>R->Q at 106: in RTT, MIM: 312750</li><li>R->W at 106: in RTT; dbSNP:rs28934907, MIM: 312750</li><li>R->G at 111: in RTT, MIM: 312750</li><li>Y->D at 120: in RTT, MIM: 312750</li><li>L->F at 124: in RTT, MIM: 312750</li><li>Q->P at 128: in RTT, MIM: 312750</li><li>R->C at 133: in RTT: in dbSNP rsrs28934904, MIM: 312750</li><li>R->H at 133: in RTT, MIM: 312750</li><li>S->C at 134: in RTT: in dbSNP rsrs61748390, MIM: 312750</li><li>K->E at 135: in RTT: in dbSNP rsrs61748391, MIM: 312750</li><li>E->G at 137: in MRXS13, MIM: 300055</li><li>A->V at 140: in MRXS13; dbSNP:rs28934908, MIM: 300055</li><li>P->R at 152: in RTT: in dbSNP rsrs61748404, MIM: 312750</li><li>F->I at 155: in RTT, MIM: 312750</li><li>F->S at 155: in RTT; dbSNP:rs28934905, MIM: 312750</li><li>D->G at 156: in RTT, MIM: 312750</li><li>T->A at 158: in RTT, MIM: 312750</li><li>T->M at 158: in RTT; dbSNP:rs28934906, MIM: 312750</li><li>G->V at 161: in RTT, MIM: 312750</li><li>R->W at 167: in MRXS13, MIM: 300055</li><li>A->V at 181, MIM: 300055</li><li>T->S at 196: in dbSNP rsrs61749713, MIM: 300055</li><li>T->M at 197, MIM: 300055</li><li>A->V at 201, MIM: 300055</li><li>T->M at 203, MIM: 300055</li><li>K->I at 210: in RTT, MIM: 312750</li><li>P->L at 225: in MRXS13, MIM: 300055</li><li>P->R at 225: in RTT: in dbSNP rsrs61749715, MIM: 312750</li><li>T->S at 228, MIM: 312750</li><li>S->L at 229: in dbSNP rsrs61749739, MIM: 312750</li><li>G->A at 232, MIM: 312750</li><li>P->L at 251, MIM: 312750</li><li>K->E at 284: in MRXS13, MIM: 300055</li><li>A->P at 287, MIM: 300055</li><li>S->A at 291, MIM: 300055</li><li>P->A at 302: in RTT: in dbSNP rsrs61751373, MIM: 312750</li><li>P->H at 302: in RTT, MIM: 312750</li><li>P->L at 302: in RTT, MIM: 312750</li><li>P->R at 302: in RTT, MIM: 312750</li><li>K->R at 305: in RTT, MIM: 312750</li><li>R->C at 306: in RTT; dbSNP:rs28935468, MIM: 312750</li><li>R->H at 306: in RTT, MIM: 312750</li><li>P->A at 322: in RTT, MIM: 312750</li><li>P->L at 322: in RTT, MIM: 312750</li><li>P->S at 322: in MRXS13, MIM: 300055</li><li>R->W at 344: in RTT, MIM: 312750</li><li>S->P at 359, MIM: 312750</li><li>P->S at 376: in a RTT patient; could be a polymorphism, MIM: 312750</li><li>P->L at 388, MIM: 312750</li><li>P->S at 388: in a RTT patient: in dbSNP rsrs61753000, MIM: 312750</li><li>Missing at 388, MIM: 312750</li><li>E->K at 394, MIM: 312750</li><li>E->K at 397: in dbSNP rsrs56268439,rs61748412, MIM: 312750</li><li>P->L at 399: in MRXS13; could be a rare polymorphism, MIM: 300055</li><li>P->L at 402, MIM: 300055</li><li>V->I at 412, MIM: 300055</li><li>G->S at 428: in neonatal severe encephalopathy due to MECP2 mutations; could be a rare polymorphism, MIM: 300673</li><li>A->T at 439, MIM: 300673</li><li>A->T at 444, MIM: 300673</li><li>R->Q at 453: in MRXS13, MIM: 300055</li><li>P->S at 480, MIM: 300055</li>							<li>P51608</li><li>Q95LG8</li>	<li>Rett syndrome (RTT) [MIM:312750]</li><li>Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]</li><li>Neonatal severe encephalopathy due to MECP2 mutations [MIM:300673]</li>	<li>rs61749713</li><li>rs61748404</li><li>rs61749715</li><li>rs56268439</li><li>rs61751373</li><li>rs61748412</li><li>rs28935468</li><li>rs61753000</li><li>rs28934905</li><li>rs28934904</li><li>rs61748391</li><li>rs61748390</li><li>rs28934908</li><li>rs28935168</li><li>rs28934907</li><li>rs28934906</li><li>rs61749739</li>	2
P51636	858		<li>Q->E at 130: in dbSNP:rs8940</li>									rs8940	2
P51648	224		<li>I->F at 45: in SLS; severe loss of activity, MIM: 270200</li><li>V->D at 64: in SLS; severe loss of activity, MIM: 270200</li><li>L->R at 106: in SLS; severe loss of activity, MIM: 270200</li><li>P->L at 114: in SLS; severe loss of activity, MIM: 270200</li><li>P->L at 121: in SLS; severe loss of activity, MIM: 270200</li><li>T->M at 184: in SLS; severe loss of activity, MIM: 270200</li><li>T->R at 184: in SLS; severe loss of activity, MIM: 270200</li><li>G->A at 185: in SLS; severe loss of activity, MIM: 270200</li><li>C->Y at 214: in SLS; 4% of activity, MIM: 270200</li><li>C->W at 226: in SLS, MIM: 270200</li><li>R->C at 228: in SLS; severe loss of activity, MIM: 270200</li><li>C->Y at 237: in SLS; severe loss of activity, MIM: 270200</li><li>D->N at 245: in SLS; severe loss of activity; originally thought to be a neutral polymorphism, MIM: 270200</li><li>K->N at 266: in SLS; mild reduction of activity; the underlying nucleotide substitution affects transcript stability, MIM: 270200</li><li>Y->N at 279: in SLS; severe loss of activity, MIM: 270200</li><li>AP->GAKSTVGA at 314-315: in SLS; 8% of activity, MIM: 270200</li><li>P->S at 315: in SLS; common mutation in Europeans; severe loss of enzymatic activity, MIM: 270200</li><li>M->I at 328: in SLS, MIM: 270200</li><li>S->L at 365: in SLS; severe loss of activity, MIM: 270200</li><li>N->S at 386: in SLS, MIM: 270200</li><li>G->R at 406: in SLS, MIM: 270200</li><li>H->Y at 411: in SLS; severe loss of activity, MIM: 270200</li><li>G->R at 412: in SLS, MIM: 270200</li><li>S->N at 415: in SLS; severe loss of activity, MIM: 270200</li><li>F->S at 419: in SLS; severe loss of activity, MIM: 270200</li><li>R->H at 423: in SLS; severe loss of activity, MIM: 270200</li><li>K->E at 447: in SLS; severe loss of activity, MIM: 270200</li>							Q05047	Sjoegren-Larsson syndrome (SLS) [MIM:270200]		2
P51649	7915		<li>G->R at 36: 87% of activity: in dbSNP rsrs4646832</li><li>C->F at 93: in SSADH deficiency; 3% of activity, MIM: 271980</li><li>G->R at 176: in SSADH deficiency; <1% of activity, MIM: 271980</li><li>H->Y at 180: 83% of activity; dbSNP:rs2760118, MIM: 271980</li><li>P->L at 182: 48% of activity; dbSNP:rs3765310, MIM: 271980</li><li>C->Y at 223: in SSADH deficiency; 5% of activity, MIM: 271980</li><li>T->M at 233: in SSADH deficiency; 4% of activity, MIM: 271980</li><li>A->S at 237: 65% of activity, MIM: 271980</li><li>N->S at 255: in SSADH deficiency; 17% of activity, MIM: 271980</li><li>G->E at 268: in SSADH deficiency; <1% of activity, MIM: 271980</li><li>N->K at 335: in SSADH deficiency; 1% of activity, MIM: 271980</li><li>P->L at 382: in SSADH deficiency; 2% of activity, MIM: 271980</li><li>P->Q at 382: in SSADH deficiency, MIM: 271980</li><li>V->I at 406, MIM: 271980</li><li>G->D at 409: in SSADH deficiency; <1% of activity, MIM: 271980</li><li>V->E at 487: in SSADH deficiency, MIM: 271980</li><li>G->R at 533: in SSADH deficiency; <1% of activity, MIM: 271980</li>							P51649	Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	<li>rs4646832</li><li>rs2760118</li><li>rs3765310</li>	2
P51654	2719		<li>W->R at 296: in SGBS, MIM: 312870</li>								Simpson-Golabi-Behmel syndrome (SGBS) [MIM:312870]		2
P51659	3295		<li>G->S at 16: in DBPD, MIM: 261515</li><li>F->L at 90: in dbSNP:rs28943588, MIM: 261515</li><li>R->H at 106: in dbSNP:rs25640, MIM: 261515</li><li>K->N at 140: in dbSNP:rs28943589, MIM: 261515</li><li>T->S at 292: in dbSNP:rs1143650, MIM: 261515</li><li>A->V at 427: in dbSNP:rs28943590, MIM: 261515</li><li>A->T at 491: in dbSNP:rs28943591, MIM: 261515</li><li>W->R at 511: in dbSNP:rs11539471, MIM: 261515</li><li>I->V at 559: in dbSNP:rs11205, MIM: 261515</li><li>A->S at 606: in dbSNP:rs15228, MIM: 261515</li><li>T->I at 687: in dbSNP:rs28943592, MIM: 261515</li><li>M->V at 728: in dbSNP:rs28943594, MIM: 261515</li>								D-bifunctional protein deficiency (DBPD) [MIM:261515]	<li>rs28943594</li><li>rs11539471</li><li>rs28943592</li><li>rs11205</li><li>rs1143650</li><li>rs28943591</li><li>rs28943590</li><li>rs15228</li><li>rs25640</li><li>rs28943588</li><li>rs28943589</li>	2
P51671	6356		<li>L->P at 7: in clone 34</li><li>A->T at 23: in clone 53; dbSNP:rs1129844</li><li>R->S at 51: in clone 34</li><li>K->R at 79: in clone 53</li><li>K->T at 86: in dbSNP:rs34262946</li>									<li>rs1129844</li><li>rs34262946</li>	2
P51674	2823		<li>V->L at 242: in dbSNP:rs1049820</li>									rs1049820	2
P51677	1232		<li>G->D at 21: in dbSNP:rs4987125</li><li>P->L at 39: in dbSNP:rs5742906</li><li>C->S at 218: polymorphism found in about 7% of the population; may show reduced activity</li>									<li>rs5742906</li><li>rs4987125</li>	2
P51679	1233		<li>L->V at 130</li><li>C->S at 178</li>										2
P51685	1237		<li>A->G at 27: in dbSNP:rs2853699</li>									rs2853699	2
P51686	10803		<li>I->V at 92: in dbSNP:rs45530037</li><li>M->V at 284: in dbSNP:rs12721497</li>									<li>rs12721497</li><li>rs45530037</li>	2
P51687	6821		<li>R->Q at 217: in ISOD; 2% of activity, MIM: 272300</li><li>I->L at 258: in ISOD, MIM: 272300</li><li>A->D at 265: in ISOD, MIM: 272300</li><li>R->Q at 268: in ISOD, MIM: 272300</li><li>G->S at 362: in ISOD, MIM: 272300</li><li>R->H at 366: in ISOD, MIM: 272300</li><li>K->R at 379: in ISOD, MIM: 272300</li><li>Q->R at 396: in ISOD, MIM: 272300</li><li>S->Y at 427: in ISOD, MIM: 272300</li><li>W->R at 450: in ISOD, MIM: 272300</li><li>G->D at 530: in ISOD, MIM: 272300</li>								Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]		2
P51688	6448		<li>D->E at 32: in MPS3A, MIM: 252900</li><li>D->G at 32: in MPS3A, MIM: 252900</li><li>Y->N at 40: in MPS3A; intermediate, MIM: 252900</li><li>N->K at 42: in MPS3A; does not yield active enzyme; the reduction in 62 kDa precursor and 56 kDa mature forms suggests an increased degradation of the mutant enzyme, MIM: 252900</li><li>A->T at 44: in MPS3A; severe, MIM: 252900</li><li>S->W at 66: in MPS3A; intermediate/severe; common mutation in Italy, MIM: 252900</li><li>R->C at 74: in MPS3A; intermediate/severe; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells; the majority of newly synthesized protein probably occurs in the endoplasmic reticulum, MIM: 252900</li><li>R->H at 74: in MPS3A, MIM: 252900</li><li>T->P at 79: in MPS3A; severe, MIM: 252900</li><li>Missing  at 84-85: in MPS3A, MIM: 252900</li><li>H->Y at 84: in MPS3A, MIM: 252900</li><li>Q->R at 85: in MPS3A, MIM: 252900</li><li>M->T at 88: in MPS3A, MIM: 252900</li><li>G->R at 90: in MPS3A, MIM: 252900</li><li>S->R at 106: in MPS3A; shows 3.3% activity of the expressed wild-type enzyme; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells, MIM: 252900</li><li>G->R at 122: in MPS3A; intermediate, MIM: 252900</li><li>P->L at 128: in MPS3A; intermediate, MIM: 252900</li><li>V->M at 131: in MPS3A, MIM: 252900</li><li>T->M at 139: in MPS3A, MIM: 252900</li><li>L->P at 146: in MPS3A; severe, MIM: 252900</li><li>R->Q at 150: in MPS3A; severe, MIM: 252900</li><li>R->W at 150: in MPS3A, MIM: 252900</li><li>L->P at 163: in MPS3A; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells; the mutant protein shows instability in the lysosomes, MIM: 252900</li><li>D->N at 179: in MPS3A; severe, MIM: 252900</li><li>R->C at 182: in MPS3A; intermediate, MIM: 252900</li><li>G->R at 191: in MPS3A; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells; the majority of newly synthesized protein probably occurs in the endoplasmic reticulum, MIM: 252900</li><li>F->L at 193: in MPS3A, MIM: 252900</li><li>R->P at 206: in MPS3A; the mutant enzyme retains 8% residual activity, MIM: 252900</li><li>V->A at 226, MIM: 252900</li><li>P->R at 227: in MPS3A; severe, MIM: 252900</li><li>A->G at 234: in MPS3A, MIM: 252900</li><li>D->N at 235: in MPS3A; does not yield active enzyme; the reduction in 62 kDa precursor and 56 kDa mature forms suggests an increased degradation of the mutant enzyme, MIM: 252900</li><li>D->V at 235: in MPS3A, MIM: 252900</li><li>R->H at 245: in MPS3A; severe; common mutation in Western Europe and Australia, MIM: 252900</li><li>G->A at 251: in MPS3A, MIM: 252900</li><li>D->N at 273: in MPS3A, MIM: 252900</li><li>P->S at 288: in MPS3A, MIM: 252900</li><li>P->S at 293: in MPS3A; does not yield active enzyme; the reduction in 62 kDa precursor and 56 kDa mature forms suggests an increased degradation of the mutant enzyme, MIM: 252900</li><li>P->T at 293: in MPS3A, MIM: 252900</li><li>S->P at 298: in MPS3A; associated with slowly progressive clinical phenotype, MIM: 252900</li><li>E->V at 300: in MPS3A, MIM: 252900</li><li>R->L at 304, MIM: 252900</li><li>Q->P at 307: in MPS3A, MIM: 252900</li><li>T->A at 321: in MPS3A, MIM: 252900</li><li>I->S at 322: in MPS3A, MIM: 252900</li><li>A->P at 354: in MPS3A, MIM: 252900</li><li>E->K at 355: in MPS3A, MIM: 252900</li><li>V->I at 361: in dbSNP:rs9894254, MIM: 252900</li><li>S->R at 364: in MPS3A, MIM: 252900</li><li>E->K at 369: in MPS3A; intermediate, MIM: 252900</li><li>Y->H at 374: in MPS3A, MIM: 252900</li><li>R->C at 377: in MPS3A; severe; does not yield active enzyme; the reduction in 62 kDa precursor and 56 kDa mature forms suggests an increased degradation of the mutant enzyme, MIM: 252900</li><li>R->H at 377: in MPS3A, MIM: 252900</li><li>Q->R at 380: in MPS3A, MIM: 252900</li><li>H->HQR at 381: in MPS3A, MIM: 252900</li><li>L->R at 386: in MPS3A, MIM: 252900</li><li>V->M at 387, MIM: 252900</li><li>N->K at 389: in MPS3A, MIM: 252900</li><li>M->I at 394: in dbSNP:rs34297805, MIM: 252900</li><li>Missing  at 403: in MPS3A; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells, MIM: 252900</li><li>YRAR->W at 432-435: in MPS3A, MIM: 252900</li><li>R->Q at 433: in MPS3A; severe, MIM: 252900</li><li>R->W at 433: in MPS3A; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells; the majority of newly synthesized protein probably occurs in the endoplasmic reticulum, MIM: 252900</li><li>Missing  at 436-438: in MPS3A, MIM: 252900</li><li>E->K at 447: in MPS3A, MIM: 252900</li><li>R->H at 456: does not affect enzyme activity; cells transfected with the mutant enzyme contain a 62 kDa precursor and a 56 kDa mature form as cells transfected with the wild-type enzyme; dbSNP:rs7503034, MIM: 252900</li><li>V->F at 486: in MPS3A, MIM: 252900</li>					<li>endoplasmic reticulum</li><li>lysosomes</li>	<li>GO:0005783</li><li>GO:0005764</li>		Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	<li>rs34297805</li><li>rs9894254</li><li>rs7503034</li>	2
P51689	414		<li>S->C at 224: in dbSNP:rs211653</li><li>V->I at 500: in dbSNP:rs2229557</li><li>M->T at 564: in dbSNP:rs2228431</li>									<li>rs211653</li><li>rs2229557</li><li>rs2228431</li>	2
P51690	415		<li>R->S at 12: in CDPX1, MIM: 302950</li><li>I->N at 80: in CDPX1, MIM: 302950</li><li>R->P at 111: in CDPX1, MIM: 302950</li><li>G->R at 117: in CDPX1, MIM: 302950</li><li>G->V at 137: in CDPX1, MIM: 302950</li><li>R->H at 183: in dbSNP:rs34412194, MIM: 302950</li><li>G->R at 245: in CDPX1, MIM: 302950</li><li>G->S at 424: in dbSNP:rs35143646, MIM: 302950</li><li>T->M at 481: in CDPX1, MIM: 302950</li><li>C->Y at 492: in CDPX1, MIM: 302950</li><li>P->S at 578: in CDPX1; dbSNP:rs28935474, MIM: 302950</li>								Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]	<li>rs35143646</li><li>rs34412194</li><li>rs28935474</li>	2
P51692	6777		<li>A->V at 130: in dbSNP:rs2277619</li><li>A->P at 630: in LTD2; affects activation by growth hormone or interferon-gamma, MIM: 245590</li>							<li>O12980</li><li>Q7YQB8</li><li>P06880</li><li>P45654</li><li>Q8MI73</li><li>P45655</li><li>Q9TTB0</li><li>P08998</li><li>O93566</li><li>Q9IBE5</li><li>Q9IB11</li><li>P13391</li><li>P33711</li><li>P34747</li><li>P34746</li><li>Q9DGG5</li><li>Q01283</li><li>P10766</li><li>Q01282</li><li>Q8HYE5</li><li>O62754</li><li>P34745</li><li>P34744</li><li>P01246</li><li>Q659Q8</li><li>Q05163</li><li>P09113</li><li>P01245</li><li>P01244</li><li>Q9W6R8</li><li>Q9I9L5</li><li>P45643</li><li>P01248</li><li>Q9W6J7</li><li>P10298</li><li>P33093</li><li>P33092</li><li>Q07221</li><li>Q7YRR6</li><li>Q9PWG3</li><li>Q9W6J5</li><li>P10607</li><li>P22077</li><li>Q9JKM4</li><li>Q9GKA1</li><li>P67931</li><li>P58756</li><li>P56437</li><li>O18938</li><li>P67930</li><li>P37886</li><li>P11228</li><li>Q9I9M4</li><li>P37885</li><li>P55755</li><li>P34006</li><li>P34005</li><li>Q98UF6</li><li>P10813</li><li>P48248</li><li>P10814</li><li>P46407</li><li>P29971</li><li>P46404</li><li>Q9GL60</li><li>P24363</li><li>P07064</li><li>Q7YQD2</li><li>P01241</li><li>P20391</li><li>P20392</li><li>P19795</li><li>P87391</li><li>P69158</li><li>Q9GMB2</li><li>P08591</li><li>Q9GMB3</li><li>P79885</li><li>P69159</li><li>Q864S7</li><li>P09539</li><li>P09537</li><li>O73848</li><li>Q9DEV3</li><li>Q1HFN3</li><li>O73849</li><li>O13188</li><li>O70615</li><li>P69160</li><li>P69161</li><li>P58343</li><li>P69162</li>	Laron type dwarfism II (LTD2) [MIM:245590]	rs2277619	2
P51788	1181		<li>S->T at 668: in dbSNP:rs9820367</li><li>G->E at 715: in JAE, MIM: 607631</li><li>E->D at 718: in dbSNP:rs2228292, MIM: 607631</li>								Juvenile absence epilepsy (JAE) [MIM:607631]	<li>rs9820367</li><li>rs2228292</li>	2
P51797	1185		<li>G->E at 198: in dbSNP:rs198400</li>									rs198400	2
P51798	1186		<li>G->R at 215: in OPTA2, MIM: 166600</li><li>G->R at 240: in OPTB4, MIM: 611490</li><li>P->R at 249: in OPTB4, MIM: 611490</li><li>I->F at 261: in OPTB4, MIM: 611490</li><li>R->Q at 286: in OPTA2, MIM: 166600</li><li>M->V at 332: in OPTB4, MIM: 611490</li><li>V->M at 418: in dbSNP:rs12926089, MIM: 611490</li><li>L->F at 490: in OPTA2, MIM: 166600</li><li>R->W at 526: in OPTB4, MIM: 611490</li><li>L->P at 614: in OPTB4, MIM: 611490</li><li>G->V at 677: in OPTA2, MIM: 166600</li><li>S->F at 744: in OPTB4, MIM: 611490</li><li>R->Q at 762: in OPTB4; not detected in the fibroblasts from the patient, MIM: 611490</li><li>L->P at 766: in OPTB4, MIM: 611490</li><li>R->Q at 767: in OPTB4, MIM: 611490</li><li>R->W at 767: in OPTA2 and OPTB4, MIM: 611490</li>								<li>Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]</li><li>Autosomal dominant osteopetrosis type 2 (OPTA2) [MIM:166600]</li>	rs12926089	2
P51800	1187		<li>R->H at 8: in dbSNP:rs9442189</li><li>R->H at 45: in dbSNP:rs35932996</li><li>M->I at 67: in dbSNP:rs17855678</li><li>R->G at 83: in dbSNP:rs10927887</li><li>A->V at 287: in dbSNP:rs34188929</li><li>Y->F at 315: in dbSNP:rs12126269</li><li>A->T at 447: in dbSNP:rs1805152</li>									<li>rs12126269</li><li>rs35932996</li><li>rs1805152</li><li>rs34188929</li><li>rs10927887</li><li>rs17855678</li><li>rs9442189</li>	2
P51801			<li>F->L at 4: in dbSNP:rs34851419</li><li>R->L at 27: in dbSNP:rs2015352</li><li>S->R at 88: in dbSNP:rs5256</li><li>V->I at 104: in dbSNP:rs35530360</li><li>P->L at 124: in BS3, MIM: 607364</li><li>V->L at 126: in dbSNP:rs5258, MIM: 607364</li><li>N->H at 143: in dbSNP:rs5259, MIM: 607364</li><li>A->T at 204: in BS3, MIM: 607364</li><li>A->G at 214: in dbSNP:rs1889789, MIM: 607364</li><li>V->L at 334: in dbSNP:rs5251, MIM: 607364</li><li>A->D at 349: in BS3, MIM: 607364</li><li>R->W at 395: in dbSNP:rs34255952, MIM: 607364</li><li>I->V at 419: in dbSNP:rs6650119, MIM: 607364</li><li>Y->H at 432: in BS3, MIM: 607364</li><li>R->C at 438: in BS3, MIM: 607364</li><li>T->S at 481: in dbSNP:rs12140311, MIM: 607364</li><li>T->M at 562: in dbSNP:rs5253, MIM: 607364</li><li>E->K at 578: in dbSNP:rs2275166, MIM: 607364</li><li>S->L at 660: in dbSNP:rs5255, MIM: 607364</li>							P21465	Bartter syndrome type 3 (BS3) [MIM:607364]	<li>rs35530360</li><li>rs2275166</li><li>rs5259</li><li>rs5258</li><li>rs6650119</li><li>rs5253</li><li>rs5255</li><li>rs5256</li><li>rs5251</li><li>rs34255952</li><li>rs34851419</li><li>rs1889789</li><li>rs12140311</li><li>rs2015352</li>	2
P51805	55558		<li>G->S at 384: in dbSNP:rs34585333</li><li>G->S at 413: in dbSNP:rs36115591</li><li>D->E at 863: in dbSNP:rs5945430</li>									<li>rs5945430</li><li>rs34585333</li><li>rs36115591</li>	2
P51810	4935		<li>R->C at 5: in OA1, MIM: 300500</li><li>G->D at 35: in OA1, MIM: 300500</li><li>L->R at 39: in OA1, MIM: 300500</li><li>D->N at 78: in OA1; reduces interaction with G-proteins, MIM: 300500</li><li>D->V at 78: in OA1, MIM: 300500</li><li>G->D at 84: in OA1, MIM: 300500</li><li>G->R at 84: in OA1, MIM: 300500</li><li>C->R at 116: in OA1, MIM: 300500</li><li>C->S at 116: in OA1; abolishes interaction with G-proteins, MIM: 300500</li><li>G->E at 118: in OA1, MIM: 300500</li><li>Q->R at 124: in OA1, MIM: 300500</li><li>W->R at 133: in OA1, MIM: 300500</li><li>A->V at 138: in OA1, MIM: 300500</li><li>S->N at 152: in OA1, MIM: 300500</li><li>A->D at 173: in OA1, MIM: 300500</li><li>G->V at 229: in OA1, MIM: 300500</li><li>T->K at 232: in OA1, MIM: 300500</li><li>E->K at 233: in OA1, MIM: 300500</li><li>E->K at 235: in OA1, MIM: 300500</li><li>I->V at 244: in OA1, MIM: 300500</li><li>I->N at 261: in OA1, MIM: 300500</li><li>E->G at 271: in OA1, MIM: 300500</li><li>Missing  at 290: in OA1, MIM: 300500</li><li>W->C at 292: in OA1, MIM: 300500</li><li>W->G at 292: in OA1, MIM: 300500</li>							<li>P51810</li><li>O77408</li>	Ocular albinism type 1 (OA1) [MIM:300500]		2
P51812	6197		<li>I->S at 38: in dbSNP rsrs56218010</li><li>G->V at 75: in CLS, MIM: 303600</li><li>V->F at 82: in CLS, MIM: 303600</li><li>R->W at 114: in CLS, MIM: 303600</li><li>H->Q at 127: in CLS, MIM: 303600</li><li>D->Y at 154: in CLS, MIM: 303600</li><li>A->V at 225: in CLS, MIM: 303600</li><li>S->A at 227: in CLS, MIM: 303600</li><li>I->V at 416: in a breast cancer sample; somatic mutation, MIM: 303600</li><li>G->D at 431: in CLS, MIM: 303600</li><li>Y->C at 483: in a gastric adenocarcinoma sample; somatic mutation, MIM: 303600</li><li>L->F at 608: in a glioblastoma multiforme sample; somatic mutation, MIM: 303600</li><li>R->C at 723: in dbSNP rsrs35026425, MIM: 303600</li><li>R->Q at 729: in CLS: in dbSNP rsrs28935171, MIM: 303600</li>							<li>Q8MZC4</li><li>Q9UJA2</li><li>Q07560</li><li>Q5U2V5</li><li>O01916</li><li>Q80ZM8</li>	Coffin-Lowry syndrome (CLS) [MIM:303600]	<li>rs56218010</li><li>rs28935171</li><li>rs35026425</li>	2
P51813	660		<li>S->L at 284: in dbSNP rsrs35353387</li><li>R->W at 670: in a lung large cell carcinoma sample; somatic mutation</li>									rs35353387	2
P51814	7592		<li>P->L at 153: in MRX89, MIM: 314995</li><li>I->R at 167: in dbSNP:rs17147624, MIM: 314995</li><li>D->E at 357: in dbSNP:rs2498170, MIM: 314995</li>								Mental retardation X-linked type 89 (MRX89) [MIM:314995]	<li>rs2498170</li><li>rs17147624</li>	2
P51816	2334		<li>L->M at 1185: in dbSNP:rs12858959</li>									rs12858959	2
P51825	4299		<li>P->A at 209: in dbSNP:rs3733378</li><li>Q->K at 1204: in a breast cancer sample; somatic mutation</li>									rs3733378	2
P51826	3899		<li>S->N at 358: in dbSNP:rs4851223</li><li>N->S at 494: in dbSNP:rs1047265</li>									<li>rs1047265</li><li>rs4851223</li>	2
P51841	2986		<li>R->P at 10: in a breast cancer sample; somatic mutation</li><li>S->C at 40: in dbSNP rsrs34228145</li><li>I->N at 160: in dbSNP rsrs33971675</li><li>R->W at 230: in dbSNP rsrs33973457</li><li>L->P at 284: in dbSNP:rs12008095</li><li>Q->R at 296: in dbSNP:rs502209</li><li>R->Q at 305: in dbSNP rsrs55966326</li><li>Y->C at 308: in dbSNP:rs16985750</li><li>Q->H at 380: in dbSNP:rs2272925</li><li>G->R at 434: in dbSNP rsrs56293008</li><li>G->D at 568: in a glioblastoma multiforme sample; somatic mutation</li><li>R->Q at 628: in dbSNP:rs7883913</li><li>V->L at 677: in dbSNP rsrs35474112</li><li>E->K at 794: in dbSNP rsrs35726803</li><li>A->V at 1010: in dbSNP rsrs55735218</li><li>K->R at 1052: in a lung adenocarcinoma sample; somatic mutation</li><li>E->D at 1055: in a lung squamous cell carcinoma sample; somatic mutation</li>									<li>rs12008095</li><li>rs7883913</li><li>rs33973457</li><li>rs2272925</li><li>rs33971675</li><li>rs55966326</li><li>rs56293008</li><li>rs55735218</li><li>rs502209</li><li>rs16985750</li><li>rs35726803</li><li>rs34228145</li><li>rs35474112</li>	2
P51854	8277		<li>L->F at 24: in dbSNP:rs17855509</li><li>I->T at 152: in dbSNP:rs17852259</li>									<li>rs17855509</li><li>rs17852259</li>	2
P51878			<li>K->N at 3: in dbSNP:rs45483102</li><li>L->W at 10: in dbSNP:rs1792778</li><li>F->L at 13: in dbSNP:rs3181320</li><li>L->R at 59</li><li>T->A at 90: in dbSNP:rs507879</li><li>R->H at 152: in dbSNP:rs3181179</li><li>V->L at 201: in dbSNP:rs3181326</li><li>R->H at 282</li><li>L->V at 318: in dbSNP:rs523104</li><li>E->K at 337: in dbSNP:rs45619739</li><li>E->Q at 366</li>									<li>rs507879</li><li>rs1792778</li><li>rs3181179</li><li>rs3181320</li><li>rs45483102</li><li>rs45619739</li><li>rs3181326</li><li>rs523104</li>	2
P51888	5549		<li>M->V at 157: in dbSNP:rs2233726</li><li>N->S at 334: in dbSNP:rs2233732</li><li>N->H at 348: in dbSNP:rs9439</li>									<li>rs2233726</li><li>rs9439</li><li>rs2233732</li>	2
P51948	4331		<li>D->A at 282: in dbSNP:rs35188899</li>									rs35188899	2
P51956	4752		<li>H->L at 23: in dbSNP:rs17482764</li><li>P->R at 60: in dbSNP rsrs55946204</li><li>R->H at 122: in dbSNP rsrs56190615</li><li>P->L at 170: in dbSNP rsrs56021040</li><li>R->G at 259: in dbSNP rsrs34077016</li><li>E->D at 305</li><li>D->N at 461</li><li>E->K at 477</li>									<li>rs34077016</li><li>rs56190615</li><li>rs55946204</li><li>rs17482764</li><li>rs56021040</li>	2
P51957	6787		<li>P->A at 225: in dbSNP:rs1029871</li><li>R->G at 239: in dbSNP:rs35778416</li><li>P->L at 250: in dbSNP:rs56408749</li><li>T->I at 357: in dbSNP:rs2230537</li><li>Q->E at 456: in dbSNP:rs56019351</li><li>F->L at 567: in dbSNP:rs34986855</li><li>R->K at 777: in a colorectal adenocarcinoma sample; somatic mutation</li>									<li>rs56408749</li><li>rs2230537</li><li>rs1029871</li><li>rs56019351</li><li>rs35778416</li><li>rs34986855</li>	2
P51959	900		<li>N->H at 178: in dbSNP:rs2069352</li><li>F->L at 179: in dbSNP:rs11541970</li>									<li>rs11541970</li><li>rs2069352</li>	2
P51970	4702		<li>N->H at 140: in a breast cancer sample; somatic mutation</li>										2
P51993	2528		<li>P->S at 124: in dbSNP:rs778805</li><li>Q->K at 230: in dbSNP:rs364637</li>									<li>rs778805</li><li>rs364637</li>	2
P52179	8736		<li>V->L at 22: in dbSNP:rs1791085</li><li>S->P at 181: in dbSNP:rs1962519</li><li>T->M at 215: in dbSNP:rs2230165</li><li>G->A at 341: in dbSNP:rs8099021</li><li>E->V at 600: in dbSNP:rs9807556</li><li>I->T at 960: in dbSNP:rs1071600</li><li>D->N at 1408: in dbSNP:rs3765623</li><li>M->T at 1453: in dbSNP:rs16944397</li>									<li>rs8099021</li><li>rs2230165</li><li>rs3765623</li><li>rs16944397</li><li>rs1071600</li><li>rs9807556</li><li>rs1962519</li><li>rs1791085</li>	2
P52209	5226		<li>A->S at 268: in dbSNP:rs11547610</li>									rs11547610	2
P52292	3838		<li>P->R at 165: in dbSNP:rs11545989</li><li>T->P at 430: in dbSNP:rs1059538</li>									<li>rs1059538</li><li>rs11545989</li>	2
P52294	3836		<li>N->S at 73: in dbSNP:rs4678193</li>									rs4678193	2
P52306	5910		<li>K->E at 314: in dbSNP:rs34392334</li>									rs34392334	2
P52333	3718		<li>P->L at 12: in dbSNP rsrs56061056</li><li>R->H at 40: in dbSNP rsrs56384680</li><li>Missing  at 58: in T</li><li>Y->C at 100: in T, MIM: 600802</li><li>P->T at 132: in dbSNP:rs3212723, MIM: 600802</li><li>P->R at 151: in T: in dbSNP rsrs55778349, MIM: 600802</li><li>D->E at 169: in T, MIM: 600802</li><li>E->G at 481: in T, MIM: 600802</li><li>L->V at 521: in dbSNP rsrs55666418, MIM: 600802</li><li>L->P at 527: in a gastric adenocarcinoma sample; somatic mutation, MIM: 600802</li><li>R->W at 582: in T, MIM: 600802</li><li>Missing  at 586-592: in T, MIM: 600802</li><li>G->S at 589: in T, MIM: 600802</li><li>I->F at 688: in dbSNP:rs35785705, MIM: 600802</li><li>V->I at 722: in dbSNP:rs3213409, MIM: 600802</li><li>C->R at 759: in T, MIM: 600802</li><li>L->S at 910: in T, MIM: 600802</li>								Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-)SCID) [MIM:600802]	<li>rs56384680</li><li>rs3212723</li><li>rs55666418</li><li>rs56061056</li><li>rs3213409</li><li>rs35785705</li><li>rs55778349</li>	2
P52429	8526		<li>L->R at 99: in a breast cancer sample; somatic mutation</li>										2
P52569	6542		<li>V->M at 20: in dbSNP:rs12680645</li><li>C->F at 376: in dbSNP:rs1134975</li><li>A->T at 531</li>									<li>rs12680645</li><li>rs1134975</li>	2
P52597	3185		<li>K->R at 87: in dbSNP:rs17851426</li>									rs17851426	2
P52735	7410		<li>M->V at 594</li>										2
P52736	7692		<li>S->T at 193: in dbSNP:rs1033545</li><li>G->E at 194: in dbSNP:rs2228273</li>									<li>rs2228273</li><li>rs1033545</li>	2
P52737	7695		<li>Y->C at 107: in dbSNP:rs10425995</li>									rs10425995	2
P52738	7699		<li>A->V at 386: in dbSNP:rs2229373</li>									rs2229373	2
P52740	7691		<li>G->D at 203: in dbSNP:rs1122955</li><li>P->L at 252: in dbSNP:rs1465789</li>									<li>rs1122955</li><li>rs1465789</li>	2
P52741	7693		<li>I->T at 30: in dbSNP:rs10414451</li><li>A->T at 46: in dbSNP:rs10413455</li><li>S->R at 207: in dbSNP:rs34034473</li>									<li>rs10413455</li><li>rs10414451</li><li>rs34034473</li>	2
P52742	7694		<li>D->G at 22: in dbSNP:rs1469087</li><li>S->L at 507: in dbSNP:rs2228277</li><li>T->A at 517: in dbSNP:rs2228278</li><li>G->R at 579: in dbSNP:rs2228279</li><li>S->L at 592: in dbSNP:rs2228275</li>									<li>rs1469087</li><li>rs2228275</li><li>rs2228277</li><li>rs2228278</li><li>rs2228279</li>	2
P52743			<li>R->Q at 112: in dbSNP:rs7250969</li><li>Q->H at 181: in dbSNP:rs1802617</li>									<li>rs1802617</li><li>rs7250969</li>	2
P52746	7701		<li>G->S at 751: in dbSNP:rs3770214</li><li>L->H at 956: in dbSNP:rs3770213</li><li>A->T at 1313: in dbSNP:rs3821033</li>									<li>rs3770213</li><li>rs3770214</li><li>rs3821033</li>	2
P52747	7702		<li>E->Q at 561: in dbSNP:rs10743108</li>									rs10743108	2
P52757	1124		<li>H->R at 204: in dbSNP:rs3750103</li><li>P->S at 438: in dbSNP:rs34971642</li>									<li>rs34971642</li><li>rs3750103</li>	2
P52789	3099		<li>Q->H at 142: does not affect activity; dbSNP:rs2229621</li><li>L->F at 148</li><li>R->C at 274: in dbSNP:rs28363006</li><li>A->P at 314: in dbSNP:rs28363015</li><li>A->V at 314</li><li>T->I at 331: in dbSNP:rs28363016</li><li>R->C at 353</li><li>A->S at 387: in dbSNP:rs28363029</li><li>R->Q at 497: in dbSNP rsrs2229625</li><li>R->Q at 775</li><li>R->Q at 801: in dbSNP:rs28363057</li><li>R->K at 844: in dbSNP:rs2229629</li><li>D->N at 881: in dbSNP:rs28363065</li>									<li>rs28363006</li><li>rs2229625</li><li>rs28363016</li><li>rs28363015</li><li>rs2229629</li><li>rs28363029</li><li>rs28363065</li><li>rs28363057</li><li>rs2229621</li>	2
P52790	3101		<li>G->R at 281: in dbSNP:rs35610191</li><li>R->W at 480: in a colorectal cancer sample; somatic mutation</li><li>A->V at 499: in a breast cancer sample; somatic mutation</li>									rs35610191	2
P52797	1944		<li>V->M at 190: in dbSNP:rs17723260</li>									rs17723260	2
P52803	1946		<li>N->K at 55: in dbSNP:rs469062</li>									rs469062	2
P52815	6182		<li>S->P at 105: in dbSNP:rs11546280</li>									rs11546280	2
P52895	1646		<li>F->Y at 46: in dbSNP:rs2854482</li><li>L->Q at 172: in dbSNP:rs11474</li>									<li>rs2854482</li><li>rs11474</li>	2
P52945	3651		<li>C->R at 18: in MODY4, MIM: 606392</li><li>Q->L at 59: in MODY4, MIM: 606392</li><li>D->N at 76: in MODY4; could be a polymorphism, MIM: 606392</li><li>R->H at 197: in MODY4, MIM: 606392</li><li>P->PP at 243: in MODY4, MIM: 606392</li>								Maturity onset diabetes of the young type 4 (MODY4) [MIM:606392]		2
P52948	4928		<li>G->V at 1669: in a breast cancer sample; somatic mutation</li>										2
P52952	1482		<li>L->P at 7: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>K->I at 15: in ASD-AVCD, MIM: 108900</li><li>D->A at 16: in dbSNP:rs17052019, MIM: 108900</li><li>N->S at 19: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>E->Q at 21: in TOF and ASD-AVCD, MIM: 187500</li><li>Q->P at 22: in ASD-AVCD, MIM: 108900</li><li>R->C at 25: in ASD-AVCD, TOF and CHNG5; exhibits significant functional impairment with reduction of transactivation properties and dominant-negative effect; the mutant protein activity on the DIO2, TG and TPO promoters is significantly impaired: in dbSNP rsrs28936670, MIM: 187500</li><li>S->P at 45: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>F->L at 51: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>A->V at 63: in ASD-AVCD, MIM: 108900</li><li>L->P at 69: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>P->L at 77: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>C->R at 114: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>C->S at 114: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>K->R at 118: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>A->S at 119: in CHNG5; exhibits a significant functional impairment with reduction of transactivation properties and dominant-negative effect which was associated with reduced DNA binding, MIM: 225250</li><li>K->R at 124: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>E->V at 126: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>A->E at 127: in ASD-AVCD, MIM: 108900</li><li>P->S at 133: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>A->T at 135: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>R->C at 142: in ASD-AVCD, MIM: 108900</li><li>L->P at 144: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>R->P at 161: in CHNG5; exhibits a significant functional impairment with reduction of transactivation properties and dominant-negative effect which was associated with reduced DNA binding, MIM: 225250</li><li>T->M at 178: in ASD-AVCD, MIM: 108900</li><li>K->E at 183: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>Q->H at 187: in ASD-AVCD, MIM: 108900</li><li>N->K at 188: in ASD-AVCD, MIM: 108900</li><li>R->G at 189: in ASD-AVCD, MIM: 108900</li><li>R->C at 190: in ASD-AVCD, MIM: 108900</li><li>Y->C at 191: in ASD-AVCD, MIM: 108900</li><li>K->R at 192: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>K->T at 192: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>K->R at 194: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>V->E at 205: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>R->C at 216: in TOF and ASD-AVCD, MIM: 187500</li><li>A->V at 219: in ASD-AVCD and TOF; somatic mutation, MIM: 187500</li><li>D->N at 226: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>Y->H at 248: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>P->T at 275: in ASD-AVCD, MIM: 108900</li><li>S->F at 279: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>S->P at 279: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>A->V at 281: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>A->V at 286: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>N->H at 294: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>D->G at 299: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>S->G at 305: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>G->S at 320: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>R->Q at 322: in ASD-AVCD; somatic mutation, MIM: 108900</li><li>A->T at 323: in ASD-AVCD, MIM: 108900</li>			DNA binding	GO:0003677			<li>P35419</li><li>P09933</li><li>Q9IAX2</li><li>P14650</li><li>Q92813</li><li>P07202</li><li>Q6QN12</li><li>P42705</li><li>P49896</li><li>Q5I3B2</li><li>Q8HYB7</li><li>P51689</li><li>P79747</li>	<li>Congenital hypothyroidism non-goitrous type 5 (CHNG5) [MIM:225250]</li><li>Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]</li><li>Tetralogy of Fallot (TOF) [MIM:187500]</li>	<li>rs17052019</li><li>rs28936670</li>	2
P52961	417		<li>P->L at 105: in dbSNP:rs35123761</li><li>P->R at 126: in dbSNP:rs35619488</li><li>L->P at 257: in dbSNP:rs2280134</li>									<li>rs35123761</li><li>rs2280134</li><li>rs35619488</li>	2
P53004	644		<li>A->T at 3: in dbSNP:rs699512</li><li>L->V at 37: in dbSNP:rs17245918</li><li>Q->R at 56: in dbSNP:rs1050916</li>									<li>rs1050916</li><li>rs699512</li><li>rs17245918</li>	2
P53370	11162		<li>C->R at 114: in dbSNP:rs12648093</li><li>R->Q at 209: in dbSNP:rs1048201</li>									<li>rs12648093</li><li>rs1048201</li>	2
P53384	4682		<li>P->A at 39: in dbSNP:rs2233531</li>									rs2233531	2
P53396	47		<li>E->D at 175: in dbSNP:rs2304497</li>									rs2304497	2
P53420	1286		<li>I->T at 6: in dbSNP:rs16823264</li><li>G->E at 116: in BFH, MIM: 141200</li><li>Missing  at 441-446: in APSAR, MIM: 141200</li><li>P->S at 482: in dbSNP:rs2229814, MIM: 141200</li><li>G->A at 545: in dbSNP:rs1800516, MIM: 141200</li><li>E->Q at 570, MIM: 141200</li><li>G->E at 897: in BFH, MIM: 141200</li><li>A->T at 931, MIM: 141200</li><li>G->R at 960: in BFH, MIM: 141200</li><li>G->E at 999: in BFH: in dbSNP rsrs13027659, MIM: 141200</li><li>P->L at 1004: in dbSNP:rs1800517, MIM: 141200</li><li>G->V at 1030: in APSAR, MIM: 203780</li><li>P->L at 1132: in BFH, MIM: 141200</li><li>G->S at 1201: in APSAR, MIM: 203780</li><li>V->M at 1327: in dbSNP:rs2229813, MIM: 203780</li><li>P->S at 1402: in dbSNP rsrs3752895, MIM: 203780</li><li>S->P at 1403: in dbSNP:rs3752895, MIM: 203780</li><li>P->L at 1572: in APSAR, MIM: 203780</li>								<li>Benign familial hematuria (BFH) [MIM:141200]</li><li>Alport syndrome autosomal recessive (APSAR) [MIM:203780]</li>	<li>rs13027659</li><li>rs2229814</li><li>rs16823264</li><li>rs2229813</li><li>rs3752895</li><li>rs1800517</li><li>rs1800516</li>	2
P53539	2354		<li>G->S at 33: in dbSNP rsrs28381241</li>									rs28381241	2
P53602	4597		<li>N->H at 278: in dbSNP:rs34519538</li>									rs34519538	2
P53609			<li>I->V at 103: in dbSNP:rs34918686</li>									rs34918686	2
P53621	1314		<li>V->G at 1040: in dbSNP:rs34997807</li>									rs34997807	2
P53634	1075		<li>W->S at 39: in PLS, MIM: 245000</li><li>Missing  at 67-74: in PLS, MIM: 245000</li><li>H->P at 127: in PLS, MIM: 245000</li><li>V->E at 129: in PLS, MIM: 245000</li><li>G->R at 139: in PLS, MIM: 245000</li><li>T->I at 153: in dbSNP:rs217086, MIM: 245000</li><li>D->Y at 236: in PLS, MIM: 245000</li><li>V->F at 249: in PLS, MIM: 245000</li><li>Q->L at 252: in PLS, MIM: 245000</li><li>R->H at 272: in PLS, MIM: 245000</li><li>R->P at 272: in PLS, MIM: 245000</li><li>Q->R at 286: in HMS and PLS, MIM: 245000</li><li>C->Y at 291: in PLS, MIM: 245000</li><li>Y->H at 294: in PLS, MIM: 245000</li><li>G->D at 300: in PLS, MIM: 245000</li><li>G->S at 300: in PLS, MIM: 245000</li><li>G->S at 301: in PLS, MIM: 245000</li><li>G->V at 301: in PLS, MIM: 245000</li><li>Y->N at 304: in PLS, MIM: 245000</li><li>Q->R at 312: in PLS, MIM: 245000</li><li>E->G at 319: in PLS, MIM: 245000</li><li>R->C at 339: in PLS, MIM: 245000</li><li>Y->C at 340: in PLS, MIM: 245000</li><li>Y->C at 347: in PLS and JPD, MIM: 245000</li><li>E->K at 401, MIM: 245000</li><li>H->N at 405: in PLS, MIM: 245000</li><li>H->R at 405: in PLS, MIM: 245000</li><li>Y->C at 412: in JPD; dbSNP:rs28937571, MIM: 170650</li><li>W->C at 429: in PLS, MIM: 245000</li><li>E->G at 447: in PLS, MIM: 245000</li><li>I->V at 453: rare polymorphism; dbSNP:rs3888798, MIM: 245000</li>								<li>Haim-Munk syndrome (HMS) [MIM:245010]</li><li>Juvenile periodontitis (JPD) [MIM:170650]</li><li>Papillon-Lefevre syndrome (PLS) [MIM:245000]</li>	<li>rs3888798</li><li>rs28937571</li><li>rs217086</li>	2
P53673	1413		<li>V->M at 36: in dbSNP:rs35520672</li><li>L->P at 69: in MCOPCT4; is predicted to disrupt the beta-sheet structure of the protein, MIM: 610426</li><li>T->M at 84: in dbSNP:rs4277, MIM: 610426</li><li>F->S at 94: in laminar cataract 2; modeling suggests that this substitution would significantly reduce the intrinsic stability of the crystalline monomer, MIM: 610426</li>								Microphthalmia isolated with cataract type 4 (MCOPCT4) [MIM:610426]	<li>rs4277</li><li>rs35520672</li>	2
P53701	3052		<li>R->C at 217: in MCOPS7, MIM: 309801</li>								Microphthalmia syndromic type 7 (MCOPS7) [MIM:309801]		2
P53708	8516		<li>V->L at 216: in dbSNP:rs7895372</li><li>V->L at 567</li><li>S->F at 577: in dbSNP:rs2298033</li><li>Q->P at 581: in dbSNP:rs9333269</li><li>R->H at 748: in dbSNP:rs9333174</li><li>I->V at 993: in dbSNP:rs9333241</li><li>A->V at 994: in dbSNP:rs1041135</li>									<li>rs1041135</li><li>rs9333241</li><li>rs2298033</li><li>rs9333174</li><li>rs9333269</li><li>rs7895372</li>	2
P53804	7267		<li>M->T at 840: in dbSNP:rs1053808</li><li>S->T at 1063: in dbSNP:rs1133021</li><li>F->L at 1117: in dbSNP:rs1133022</li><li>N->H at 1128: in dbSNP:rs1053833</li><li>P->S at 1154: in dbSNP:rs1053840</li><li>K->M at 1289: in a breast cancer sample; somatic mutation</li><li>H->D at 1751: in dbSNP:rs1053966</li>									<li>rs1133022</li><li>rs1053966</li><li>rs1133021</li><li>rs1053840</li><li>rs1053833</li><li>rs1053808</li>	2
P53814	6525		<li>D->G at 455: in dbSNP:rs1064178</li><li>A->P at 547: in dbSNP:rs3205187</li><li>A->V at 559: in dbSNP:rs5997872</li><li>A->T at 580: in dbSNP:rs12158015</li><li>R->Q at 637: in a colorectal cancer sample; somatic mutation</li><li>A->V at 763: in a colorectal cancer sample; somatic mutation</li>									<li>rs3205187</li><li>rs1064178</li><li>rs12158015</li><li>rs5997872</li>	2
P53985	6566		<li>S->G at 85: in dbSNP:rs11551867</li><li>K->E at 204: in SDLT, MIM: 245340</li><li>G->R at 472: in SDLT, MIM: 245340</li><li>E->D at 490: in dbSNP:rs1049434, MIM: 245340</li>								Symptomatic deficiency in lactate transport (SDLT) [MIM:245340]	<li>rs11551867</li><li>rs1049434</li>	2
P54098	5428		<li>R->P at 3: in PEOB, MIM: 258450</li><li>P->S at 18: in dbSNP:rs3087373, MIM: 258450</li><li>Q->QQ at 55, MIM: 258450</li><li>Q->QQQ at 55, MIM: 258450</li><li>R->Q at 193: in dbSNP:rs3176162, MIM: 258450</li><li>R->W at 227: in PEOB; sporadic case, MIM: 258450</li><li>T->I at 251: in PEOB; also found in MNGIE with no leukoencephalopathy, MIM: 258450</li><li>L->R at 304: in PEOB, MIM: 258450</li><li>R->L at 309: in PEOB, MIM: 258450</li><li>W->R at 312: in PEOB; sporadic case, MIM: 258450</li><li>P->S at 324: in dbSNP:rs2307437, MIM: 258450</li><li>G->V at 431: in PEOB; sporadic case, MIM: 258450</li><li>A->T at 467: in PEOB; allele T frequency of 0.6% in the Belgian population; clinical picture overlaps on a patient with the syndrome of myoclonous epilepsy and ragged red fibers , MIM: 258450</li><li>N->D at 468: in PEOB, MIM: 258450</li><li>Q->H at 497: in ataxia, MIM: 258450</li><li>R->C at 546: in dbSNP:rs2307447, MIM: 258450</li><li>R->W at 579: in PEOB; autosomal recessive, MIM: 258450</li><li>P->L at 587: in PEOB; also found in MNGIE, MIM: 258450</li><li>R->W at 627: in SANDO; sporadic case, MIM: 607459</li><li>E->K at 662: in dbSNP:rs2307450, MIM: 607459</li><li>W->S at 748: in SANDO; also found in AHS; associated with G-1143 it is the most common genetic cause of inherited ataxia in Finland, MIM: 607459</li><li>Y->C at 831: in PEOA1: in dbSNP rsrs41549716, MIM: 157640</li><li>G->S at 848: in PEOB and AHS; also in a sporadic case carrying the Q-334 mutation in the PEO1 gene, MIM: 258450</li><li>N->S at 864: in MNGIE, MIM: 603041</li><li>A->T at 889: in PEOB, MIM: 258450</li><li>G->D at 923: in PEOA1, MIM: 157640</li><li>H->Y at 932: in SANDO, MIM: 607459</li><li>R->H at 943: in PEOA1, MIM: 157640</li><li>R->C at 953: in PEOA1: in dbSNP rsrs11546842, MIM: 157640</li><li>Y->C at 955: in PEOA1; can underlie parkinsonism; 45-fold decrease in apparent binding affinity for the incoming nucleoside triphosphate; 2-fold less accurate for basepair substitutions than wild-type, MIM: 157640</li><li>A->S at 957: in PEOA1, MIM: 157640</li><li>R->Q at 1047: in PEOB; sporadic case, MIM: 258450</li><li>G->R at 1051: in SANDO, MIM: 607459</li><li>G->V at 1076: in PEOB, MIM: 258450</li><li>R->C at 1096: in PEOB; sporadic case, MIM: 258450</li><li>S->C at 1104: in PEOB; sporadic case, MIM: 258450</li><li>A->T at 1105: in PEOB, MIM: 258450</li><li>V->I at 1106: in PEOB, MIM: 258450</li><li>R->W at 1142: in dbSNP:rs2307442, MIM: 258450</li><li>E->G at 1143: associated with S-748 it is the most common genetic cause of inherited ataxia in Finland; dbSNP:rs2307441, MIM: 258450</li><li>R->C at 1146: in dbSNP:rs2307440, MIM: 258450</li><li>S->L at 1176: in PEOA1, MIM: 157640</li><li>Q->H at 1236: in dbSNP:rs3087374, MIM: 157640</li>			binding	GO:0005488			<li>Q5ZIW1</li><li>Q96RR1</li>	<li>Alpers-Huttenlocher syndrome (AHS) [MIM:203700]</li><li>Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]</li><li>Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) [MIM:603041]</li><li>Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]</li><li>Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]</li>	<li>rs41549716</li><li>rs3087374</li><li>rs2307447</li><li>rs3087373</li><li>rs2307442</li><li>rs2307437</li><li>rs2307441</li><li>rs3176162</li><li>rs11546842</li><li>rs2307450</li><li>rs2307440</li>	2
P54105	1207		<li>Q->H at 20</li><li>M->T at 218</li>										2
P54108	10321		<li>S->P at 106: in dbSNP:rs495335</li><li>A->S at 134: in dbSNP:rs1864312</li>									<li>rs495335</li><li>rs1864312</li>	2
P54132	641		<li>K->R at 137: in dbSNP:rs28384988</li><li>T->M at 298: in dbSNP:rs28384991</li><li>R->Q at 591: in dbSNP:rs28385012</li><li>Q->R at 672: in BLM, MIM: 210900</li><li>I->T at 841: in BLM, MIM: 210900</li><li>T->I at 843: in BLM, MIM: 210900</li><li>P->L at 868: in dbSNP:rs11852361, MIM: 210900</li><li>C->R at 878: in BLM, MIM: 210900</li><li>G->E at 891: in BLM, MIM: 210900</li><li>C->Y at 901: in BLM, MIM: 210900</li><li>C->F at 1036: in BLM, MIM: 210900</li><li>A->D at 1043: in dbSNP:rs2229035, MIM: 210900</li><li>C->S at 1055: in BLM, MIM: 210900</li><li>V->I at 1205: in dbSNP:rs28385141, MIM: 210900</li><li>S->T at 1209: in dbSNP:rs1801256, MIM: 210900</li><li>E->K at 1213: in dbSNP:rs28385142, MIM: 210900</li><li>V->I at 1321: in dbSNP:rs7167216, MIM: 210900</li>							<li>Q9I920</li><li>P54132</li>	Bloom syndrome (BLM) [MIM:210900]	<li>rs28385142</li><li>rs28385141</li><li>rs28384991</li><li>rs2229035</li><li>rs1801256</li><li>rs28385012</li><li>rs11852361</li><li>rs28384988</li><li>rs7167216</li>	2
P54136	5917		<li>V->I at 3: in dbSNP:rs244903</li><li>R->G at 135: in dbSNP:rs1059443</li><li>F->Y at 397: in dbSNP:rs2305734</li>									<li>rs244903</li><li>rs2305734</li><li>rs1059443</li>	2
P54219	6570		<li>T->P at 4: in dbSNP:rs2270641</li><li>R->Q at 11: in dbSNP:rs17092144</li><li>A->V at 74: in dbSNP:rs17215815</li><li>F->C at 82: in dbSNP:rs17215822</li><li>F->S at 84: in dbSNP:rs17215801</li><li>S->T at 98: in dbSNP:rs2270637</li><li>A->P at 101: in dbSNP:rs17222218</li><li>I->T at 136: in dbSNP:rs1390938</li><li>G->R at 140: in dbSNP:rs17215808</li><li>I->M at 164: in dbSNP:rs17222092</li><li>I->T at 202: in dbSNP:rs17222120</li><li>V->I at 249: in dbSNP:rs17215759</li><li>L->V at 392: in dbSNP:rs17092104</li>									<li>rs17092144</li><li>rs1390938</li><li>rs17222218</li><li>rs17215808</li><li>rs17092104</li><li>rs17215759</li><li>rs2270637</li><li>rs17222120</li><li>rs17222092</li><li>rs2270641</li><li>rs17215822</li><li>rs17215815</li><li>rs17215801</li>	2
P54253	6310		<li>H->Q at 209: in dbSNP:rs11969612</li><li>P->S at 753: in dbSNP:rs16885</li>									<li>rs16885</li><li>rs11969612</li>	2
P54257	9001		<li>R->K at 4: in dbSNP:rs4796604</li><li>T->S at 58: in dbSNP:rs4796603</li><li>S->L at 357</li><li>R->W at 437: in dbSNP rsrs11867808</li><li>M->T at 441: may influence the age-at-onset of Huntington disease; decreases binding to mutated HTT; influences HTT degradation: in dbSNP rsrs4523977</li><li>F->L at 483: in dbSNP:rs8075017</li><li>A->V at 488: in dbSNP:rs34853043</li>			binding	GO:0005488			P31645		<li>rs8075017</li><li>rs34853043</li><li>rs4796603</li><li>rs4523977</li><li>rs11867808</li><li>rs4796604</li>	2
P54259	1822		<li>M->I at 339: in dbSNP:rs1058045</li>									rs1058045	2
P54277	5378		<li>E->Q at 27: in dbSNP:rs5742973</li><li>R->K at 202: in dbSNP:rs2066459</li><li>M->T at 394: in incomplete HNPCC3; dbSNP:rs1145231</li><li>G->R at 501: in incomplete HNPCC3; dbSNP:rs1145232</li><li>N->S at 632: in dbSNP:rs2066456</li><li>E->D at 720: in dbSNP:rs2066455</li><li>Y->H at 793: in dbSNP:rs1145234</li>									<li>rs1145234</li><li>rs2066459</li><li>rs2066456</li><li>rs2066455</li><li>rs1145231</li><li>rs1145232</li><li>rs5742973</li>	2
P54278	5395		<li>R->Q at 20: in dbSNP:rs10254120</li><li>T->K at 277: in dbSNP:rs1805322</li><li>P->S at 470: in dbSNP:rs1805321</li><li>H->Q at 479</li><li>T->K at 485: in dbSNP:rs1805323</li><li>T->A at 511: in dbSNP:rs2228007</li><li>E->K at 541: in dbSNP:rs2228006</li><li>T->S at 597: may be associated with increased susceptibility to colorectal cancer; significantly reduced interaction with MLH1; dbSNP:rs1805318</li><li>M->I at 622: may be associated with increased susceptibility to colorectal cancer; significantly reduced interaction with MLH1; dbSNP:rs1805324</li><li>E->K at 705: in MMRCS; could be a rare polymorphism, MIM: 276300</li><li>N->S at 775: in dbSNP:rs17420802, MIM: 276300</li>							<li>P38920</li><li>P40692</li>	Mismatch repair cancer syndrome (MMRCS) [MIM:276300]	<li>rs2228007</li><li>rs1805324</li><li>rs10254120</li><li>rs1805318</li><li>rs17420802</li><li>rs1805321</li><li>rs2228006</li><li>rs1805323</li><li>rs1805322</li>	2
P54284	784		<li>R->H at 423: in dbSNP:rs2229954</li>									rs2229954	2
P54289	781		<li>E->D at 1007: in dbSNP:rs9886043</li><li>D->A at 1045: in dbSNP:rs35131433</li>									<li>rs9886043</li><li>rs35131433</li>	2
P54296	9172		<li>E->K at 81: in dbSNP:rs35985218</li><li>T->M at 182: in dbSNP:rs17064618</li><li>V->L at 321: in dbSNP:rs2272720</li><li>V->I at 363: in dbSNP:rs34316994</li><li>S->Y at 601: in dbSNP:rs36089594</li><li>V->I at 701: in dbSNP:rs35335787</li><li>T->M at 776: in dbSNP:rs2294066</li><li>N->S at 869: in dbSNP:rs968381</li><li>L->F at 1022: in dbSNP:rs2280896</li><li>E->D at 1284: in dbSNP:rs34735757</li>									<li>rs36089594</li><li>rs968381</li><li>rs2294066</li><li>rs34735757</li><li>rs17064618</li><li>rs2272720</li><li>rs2280896</li><li>rs35335787</li><li>rs34316994</li><li>rs35985218</li>	2
P54315	5407		<li>N->D at 61: in dbSNP:rs11197744</li><li>S->C at 129: in a breast cancer sample; somatic mutation</li><li>A->V at 271: in dbSNP:rs2305205</li><li>E->D at 414: in dbSNP:rs2305204</li><li>L->P at 461: in dbSNP:rs1049125</li>									<li>rs2305205</li><li>rs11197744</li><li>rs2305204</li><li>rs1049125</li>	2
P54368	4946		<li>R->L at 32: in dbSNP:rs4667</li><li>G->D at 44: in dbSNP:rs28359762</li><li>S->F at 50: in dbSNP:rs28384673</li><li>S->F at 53: in dbSNP:rs2230749</li><li>A->V at 147</li>									<li>rs28384673</li><li>rs2230749</li><li>rs28359762</li><li>rs4667</li>	2
P54577	8565		<li>G->R at 41: in CMTDIC; partial loss of activity, MIM: 608323</li><li>Missing  at 153-156: in CMTDIC, MIM: 608323</li><li>Q->H at 170: in dbSNP:rs2128600, MIM: 608323</li><li>E->K at 196: in CMTDIC; partial loss of activity, MIM: 608323</li>								Charcot-Marie-Tooth disease dominant intermediate type C (CMTDIC) [MIM:608323]	rs2128600	2
P54619	5571		<li>T->S at 89: in dbSNP:rs1126930</li><li>K->N at 329: in dbSNP:rs34210356</li>									<li>rs1126930</li><li>rs34210356</li>	2
P54646	5563		<li>P->T at 371: in breast cancer samples; infiltrating ductal carcinoma; somatic mutation</li><li>R->Q at 407: in a gastric adenocarcinoma sample; somatic mutation</li><li>S->G at 523: in a breast cancer sample; somatic mutation</li>										2
P54652	3306		<li>C->S at 191: in dbSNP rsrs45456191</li><li>K->E at 496: in dbSNP rsrs45447398</li>									<li>rs45447398</li><li>rs45456191</li>	2
P54687	586		<li>T->M at 59: in dbSNP:rs17374285</li><li>E->K at 321: in dbSNP:rs7313020</li><li>G->S at 330: in dbSNP:rs1057204</li>									<li>rs7313020</li><li>rs1057204</li><li>rs17374285</li>	2
P54707	479		<li>P->L at 863: in dbSNP:rs2289909</li>									rs2289909	2
P54710	486		<li>G->R at 41: in HOMG2; fails to localize to plasma membrane: in dbSNP rsrs28938168, MIM: 154020</li>					plasma membrane	GO:0005886		Hypomagnesemia type 2 (HOMG2) [MIM:154020]	rs28938168	2
P54725	5886		<li>T->A at 131: in dbSNP:rs11558955</li><li>R->Q at 179: in dbSNP:rs4987203</li><li>T->M at 200: in dbSNP:rs4987202</li>									<li>rs4987202</li><li>rs11558955</li><li>rs4987203</li>	2
P54727	5887		<li>A->V at 249: in dbSNP:rs1805329</li>									rs1805329	2
P54753	2049		<li>R->L at 168: in a lung small cell carcinoma sample; somatic mutation</li><li>R->C at 440: in dbSNP rsrs56029711</li><li>I->V at 579: in dbSNP rsrs56103851</li><li>I->L at 601</li><li>R->W at 724: in a lung neuroendocrine carcinoma sample; somatic mutation</li>									<li>rs56029711</li><li>rs56103851</li>	2
P54756	2044		<li>N->T at 81: in dbSNP rsrs33932471</li><li>S->A at 235: in dbSNP rsrs55710198</li><li>E->Q at 330: in dbSNP rsrs56205382</li><li>R->Q at 417: in a lung adenocarcinoma sample; somatic mutation</li><li>E->K at 503: in a lung large cell carcinoma sample; somatic mutation</li><li>Y->C at 506: in dbSNP rsrs56074660</li><li>G->E at 582: in a lung adenocarcinoma sample; somatic mutation</li><li>A->T at 672: in dbSNP rsrs36050417</li><li>S->T at 673: in dbSNP rsrs56359290</li><li>T->I at 856: in a lung squamous cell carcinoma sample; somatic mutation</li><li>H->R at 959: in dbSNP rsrs56312931</li><li>N->S at 1032: in a lung large cell carcinoma sample; somatic mutation</li>									<li>rs56359290</li><li>rs56074660</li><li>rs55710198</li><li>rs56205382</li><li>rs33932471</li><li>rs36050417</li><li>rs56312931</li>	2
P54760	2050		<li>P->L at 67: in dbSNP rsrs34653459</li><li>V->I at 113: in dbSNP rsrs55866373</li><li>P->L at 346: in a metastatic melanoma sample; somatic mutation</li><li>A->V at 371: in dbSNP rsrs55720981</li><li>D->E at 576: in dbSNP:rs36050247</li><li>R->H at 678: in dbSNP rsrs55692440</li><li>A->T at 882: in dbSNP:rs34918225</li><li>R->W at 889: in a gastric adenocarcinoma sample; somatic mutation</li><li>E->D at 890: in dbSNP rsrs35638378</li>									<li>rs35638378</li><li>rs34918225</li><li>rs34653459</li><li>rs55720981</li><li>rs55692440</li><li>rs55866373</li><li>rs36050247</li>	2
P54764	2043		<li>R->Q at 269: in dbSNP rsrs35084379</li><li>G->E at 370: in a bladder carcinoma NOS sample; somatic mutation</li><li>S->F at 399: in a metastatic melanoma sample; somatic mutation</li><li>R->K at 953: in dbSNP:rs35341687</li>							<li>O61608</li><li>O61309</li><li>O54705</li><li>Q26240</li><li>Q28969</li><li>Q9I9M2</li>		<li>rs35341687</li><li>rs35084379</li>	2
P54802	4669		<li>L->F at 35: in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type, MIM: 252920</li><li>R->W at 38: in MPS3B; decreases the enzyme activity markedly, MIM: 252920</li><li>F->C at 48: in MPS3B, MIM: 252920</li><li>F->L at 48: in MPS3B; associated with a partially degraded polypeptide in a 16-hour chase experiment suggesting that L-48 NAGLU affects the processing and stability of the gene; some L-48 NAGLU is being correctly sorted to the lysosomal compartment, MIM: 252920</li><li>G->S at 69: in MPS3B, MIM: 252920</li><li>V->G at 77: in MPS3B; decreases the enzyme activity markedly, MIM: 252920</li><li>G->C at 79: in MPS3B, MIM: 252920</li><li>G->S at 79: in MPS3B, MIM: 252920</li><li>G->D at 82: in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type, MIM: 252920</li><li>Y->H at 92: in MPS3B, MIM: 252920</li><li>H->R at 100: in MPS3B, MIM: 252920</li><li>P->S at 115: in MPS3B, MIM: 252920</li><li>R->C at 130: in MPS3B; does not yield active enzyme, MIM: 252920</li><li>Y->C at 140: in MPS3B, MIM: 252920</li><li>Missing  at 142: in MPS3B, MIM: 252920</li><li>E->K at 153: in MPS3B, MIM: 252920</li><li>I->R at 154: in MPS3B; does not yield active enzyme, MIM: 252920</li><li>W->C at 156: in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type, MIM: 252920</li><li>H->P at 227: in MPS3B, MIM: 252920</li><li>R->C at 234: in MPS3B, MIM: 252920</li><li>V->M at 241: in MPS3B, MIM: 252920</li><li>L->P at 242: in MPS3B; no enzyme activity, MIM: 252920</li><li>P->L at 243: in MPS3B, MIM: 252920</li><li>A->P at 246: in MPS3B; produces 12.7% residual enzyme activity, MIM: 252920</li><li>H->R at 248: in MPS3B, MIM: 252920</li><li>W->R at 268: in MPS3B, MIM: 252920</li><li>C->F at 277: in MPS3B, MIM: 252920</li><li>L->P at 280: in MPS3B, MIM: 252920</li><li>G->R at 292: in MPS3B, MIM: 252920</li><li>Y->C at 309: in MPS3B; does not yield active enzyme, MIM: 252920</li><li>F->L at 314: in MPS3B, MIM: 252920</li><li>V->F at 334: in MPS3B, MIM: 252920</li><li>Y->C at 335: in MPS3B; decreases the enzyme activity markedly, MIM: 252920</li><li>P->L at 358: in MPS3B, MIM: 252920</li><li>F->S at 410: in MPS3B, MIM: 252920</li><li>G->E at 412: in MPS3B; does not yield active enzyme, MIM: 252920</li><li>H->R at 414: in MPS3B; no enzyme activity, MIM: 252920</li><li>T->I at 437: in MPS3B, MIM: 252920</li><li>E->K at 446: in MPS3B; no enzyme activity, MIM: 252920</li><li>E->K at 452: in MPS3B, MIM: 252920</li><li>Y->C at 455: in MPS3B, MIM: 252920</li><li>W->G at 474: in MPS3B, MIM: 252920</li><li>R->Q at 482: in MPS3B; no enzyme activity, MIM: 252920</li><li>R->W at 482: in MPS3B, MIM: 252920</li><li>V->G at 501: in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type, MIM: 252920</li><li>P->L at 516: in MPS3B; no enzyme activity, MIM: 252920</li><li>R->W at 520: in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type, MIM: 252920</li><li>P->L at 521: in MPS3B; accounts for approximately 6% of mutations in Australasian patients with MPS3B, MIM: 252920</li><li>S->Y at 534: in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type, MIM: 252920</li><li>L->P at 560: in MPS3B, MIM: 252920</li><li>L->R at 561: in MPS3B, MIM: 252920</li><li>R->P at 565: in MPS3B; does not yield active enzyme, MIM: 252920</li><li>R->Q at 565: in MPS3B, MIM: 252920</li><li>R->W at 565: in MPS3B; accounts for approximately 6% of the mutant alleles in Australasian patients with MPS3B, MIM: 252920</li><li>L->P at 591: in MPS3B, MIM: 252920</li><li>S->G at 612: in MPS3B, MIM: 252920</li><li>L->F at 617: in MPS3B, MIM: 252920</li><li>R->C at 643: in MPS3B; accounts for approximately 20% of MPS3B alleles in a Dutch patient group, MIM: 252920</li><li>R->H at 643: in MPS3B, MIM: 252920</li><li>W->C at 649: in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type, MIM: 252920</li><li>G->E at 650: in MPS3B, MIM: 252920</li><li>Y->F at 658: in MPS3B, MIM: 252920</li><li>A->V at 664: in MPS3B, MIM: 252920</li><li>R->C at 674: in MPS3B, MIM: 252920</li><li>R->H at 674: in MPS3B, MIM: 252920</li><li>R->P at 676: in MPS3B, MIM: 252920</li><li>L->R at 682: in MPS3B, MIM: 252920</li><li>E->K at 705: in MPS3B, MIM: 252920</li><li>G->R at 737: in dbSNP:rs86312, MIM: 252920</li>								Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	rs86312	2
P54803	2581		<li>G->R at 59: in GLD; infantile; significant reduction of activity, MIM: 245200</li><li>S->F at 68: in GLD; infantile; significant reduction of activity, MIM: 245200</li><li>R->H at 79: in GLD, MIM: 245200</li><li>I->M at 82: in GLD; adult; reduction of activity; when associated with V-2105, MIM: 245200</li><li>G->D at 111: in GLD, MIM: 245200</li><li>G->S at 111: in GLD, MIM: 245200</li><li>T->A at 112: in GLD; adult, MIM: 245200</li><li>M->L at 117: in GLD; adult, MIM: 245200</li><li>R->C at 184: in dbSNP:rs1805078, MIM: 245200</li><li>D->V at 187: in GLD, MIM: 245200</li><li>G->A at 194: in GLD, MIM: 245200</li><li>D->N at 248: in dbSNP rsrs34362748, MIM: 245200</li><li>I->T at 250: in GLD; late infantile, MIM: 245200</li><li>A->T at 263: in GLD, MIM: 245200</li><li>T->I at 278: in GLD; infantile; significant reduction of activity, MIM: 245200</li><li>G->S at 284: in GLD, MIM: 245200</li><li>G->D at 286: in GLD, MIM: 245200</li><li>N->T at 295: in GLD, MIM: 245200</li><li>S->F at 303: in GLD; infantile, MIM: 245200</li><li>I->V at 305: in dbSNP:rs1805079, MIM: 245200</li><li>Y->C at 314: in GLD, MIM: 245200</li><li>P->A at 318: in GLD, MIM: 245200</li><li>Y->C at 335: in GLD; infantile; significant reduction of activity, MIM: 245200</li><li>R->W at 396: in GLD; bilateral cherry red spots, MIM: 245200</li><li>P->L at 400: in GLD: in dbSNP rsrs17687109, MIM: 245200</li><li>W->G at 426: in GLD; infantile; significant reduction of activity, MIM: 245200</li><li>T->S at 468: in GLD: in dbSNP rsrs34134328, MIM: 245200</li><li>F->S at 514: in GLD, MIM: 245200</li><li>T->M at 529: in GLD; infantile, MIM: 245200</li><li>R->C at 531: in GLD, MIM: 245200</li><li>R->H at 531: in GLD; infantile; significant reduction of activity, MIM: 245200</li><li>D->N at 544: in GLD; Arab patients, MIM: 245200</li><li>G->R at 553: in GLD; loss of activity, MIM: 245200</li><li>I->T at 562: common polymorphism; dbSNP:rs398607, MIM: 245200</li><li>V->G at 566: in GLD, MIM: 245200</li><li>Y->S at 567: in GLD; belgian patient, MIM: 245200</li><li>A->S at 592: in GLD, MIM: 245200</li><li>I->S at 599: in GLD; infantile; Druze patients, MIM: 245200</li><li>L->S at 634: in GLD; adult, MIM: 245200</li><li>A->T at 641: significant reduction of activity when associated with T-562; dbSNP:rs421262, MIM: 245200</li><li>L->R at 645: in GLD; adult, MIM: 245200</li><li>T->R at 668: in GLD; infantile; significant reduction of activity, MIM: 245200</li>								Globoid cell leukodystrophy (GLD) [MIM:245200]	<li>rs421262</li><li>rs17687109</li><li>rs34362748</li><li>rs398607</li><li>rs1805079</li><li>rs34134328</li><li>rs1805078</li>	2
P54819	204		<li>R->W at 103: in RDYS, MIM: 267500</li><li>D->G at 165: in RDYS, MIM: 267500</li><li>A->T at 209: in dbSNP:rs12116440, MIM: 267500</li>								Reticular dysgenesis (RDYS) [MIM:267500]	rs12116440	2
P54840	2998		<li>N->S at 39: in GSD0, MIM: 240600</li><li>A->P at 339: in GSD0, MIM: 240600</li><li>H->D at 446: in GSD0, MIM: 240600</li><li>P->Q at 479: in GSD0, MIM: 240600</li><li>S->P at 483: in GSD0, MIM: 240600</li><li>M->R at 491: in GSD0, MIM: 240600</li>								Glycogen storage disease type 0 (GSD0) [MIM:240600]		2
P54845	4901		<li>S->T at 50: in RP27; increased transactivation activity, MIM: 162080</li>								Retinitis pigmentosa type 27 (RP27) [MIM:162080]		2
P54849	2012		<li>S->N at 57: in dbSNP:rs34412222</li>									rs34412222	2
P54852	2014		<li>I->V at 125: in dbSNP:rs4893</li>									rs4893	2
P54855	7366		<li>D->Y at 85: in dbSNP:rs1902023</li><li>K->T at 523: in dbSNP:rs4148269</li>									<li>rs4148269</li><li>rs1902023</li>	2
P54868	3158		<li>V->M at 54: in HMG-CoA synthase deficiency: in dbSNP rsrs28937320, MIM: 605911</li><li>Y->C at 167: in HMG-CoA synthase deficiency, MIM: 605911</li><li>F->L at 174: in HMG-CoA synthase deficiency; reduced peptide level; no enzymatic activity, MIM: 605911</li><li>G->R at 212: in HMG-CoA synthase deficiency, MIM: 605911</li><li>R->H at 500: in HMG-CoA synthase deficiency, MIM: 605911</li>							<li>Q01581</li><li>P22791</li><li>P54868</li><li>P54869</li><li>P13704</li><li>Q5R7Z9</li><li>P54839</li><li>P54874</li><li>P54872</li><li>P54873</li><li>P54871</li><li>Q8JZK9</li><li>P23228</li><li>P17425</li><li>O02734</li><li>Q2KIE6</li>	HMG-CoA synthase deficiency [MIM:605911]	rs28937320	2
P54886	5832		<li>R->Q at 84: in P5CS deficiency; reduction of activity, MIM: 138250</li><li>T->I at 299: in dbSNP:rs2275272, MIM: 138250</li><li>S->Y at 372: in dbSNP:rs3765571, MIM: 138250</li>							<li>O04015</li><li>P32296</li><li>Q9Z110</li><li>Q96480</li><li>P54889</li><li>O04226</li><li>O65361</li><li>P54886</li>	Delta-1-pyrroline-5-carboxylate synthetase deficiency (P5CS deficiency) [MIM:138250]	<li>rs3765571</li><li>rs2275272</li>	2
P55000	57152		<li>W->R at 15: in MDM; no expression of the protein, MIM: 248300</li><li>R->H at 71: in MDM; reduced expression of the protein, MIM: 248300</li><li>C->R at 77: in MDM, MIM: 248300</li><li>G->R at 86: in MDM; reduced expression of the protein; dbSNP:rs28937888, MIM: 248300</li><li>C->Y at 99: in MDM, MIM: 248300</li>								Mal de Meleda (MDM) [MIM:248300]	rs28937888	2
P55008	199		<li>G->R at 14: in dbSNP:rs2736182</li>									rs2736182	2
P55010	1983		<li>K->M at 418: in a breast cancer sample; somatic mutation</li>										2
P55017	6559		<li>T->M at 60: in GS, MIM: 263800</li><li>D->N at 62: in GS, MIM: 263800</li><li>E->K at 68: in GS, MIM: 263800</li><li>H->N at 69: in GS, MIM: 263800</li><li>H->Y at 90: in GS, MIM: 263800</li><li>R->H at 145: in GS, MIM: 263800</li><li>V->M at 153: in GS, MIM: 263800</li><li>I->F at 154: in GS, MIM: 263800</li><li>R->Q at 158: in GS, MIM: 263800</li><li>T->M at 163: in GS, MIM: 263800</li><li>W->R at 172: in GS, MIM: 263800</li><li>S->L at 178: in GS, MIM: 263800</li><li>T->K at 180: in GS, MIM: 263800</li><li>G->D at 186: in GS, MIM: 263800</li><li>R->Q at 209: in GS; dbSNP:rs28936388, MIM: 263800</li><li>R->W at 209: in GS: in dbSNP rsrs28936388, MIM: 263800</li><li>L->P at 215: in GS, MIM: 263800</li><li>A->T at 226: in GS, MIM: 263800</li><li>G->D at 230: in GS, MIM: 263800</li><li>R->H at 261: in GS, MIM: 263800</li><li>G->A at 264: in dbSNP:rs1529927, MIM: 263800</li><li>S->Y at 283: in GS, MIM: 263800</li><li>K->R at 284: in GS, MIM: 263800</li><li>T->P at 304: in GS, MIM: 263800</li><li>A->V at 313: in GS, MIM: 263800</li><li>G->V at 316: in GS, MIM: 263800</li><li>R->W at 321: in GS, MIM: 263800</li><li>R->W at 334: in GS, MIM: 263800</li><li>G->A at 342: in GS, MIM: 263800</li><li>P->L at 349: in GS, MIM: 263800</li><li>G->V at 374: in GS, MIM: 263800</li><li>R->C at 399: in GS, MIM: 263800</li><li>C->R at 421: in GS; dbSNP:rs28936387, MIM: 263800</li><li>G->S at 439: in GS, MIM: 263800</li><li>G->E at 463: in GS, MIM: 263800</li><li>A->T at 464: in GS, MIM: 263800</li><li>K->E at 478: in GS, MIM: 263800</li><li>D->N at 486: in GS, MIM: 263800</li><li>G->C at 496: in GS, MIM: 263800</li><li>L->P at 542: in GS, MIM: 263800</li><li>S->L at 555: in GS, MIM: 263800</li><li>P->H at 560: in GS, MIM: 263800</li><li>Missing  at 561: in GS, MIM: 263800</li><li>A->E at 569: in GS, MIM: 263800</li><li>A->V at 569: in GS, MIM: 263800</li><li>V->M at 578: in GS, MIM: 263800</li><li>A->V at 588: in GS, MIM: 263800</li><li>G->S at 613: in GS, MIM: 263800</li><li>S->L at 615: in GS, MIM: 263800</li><li>S->W at 615: in GS, MIM: 263800</li><li>L->P at 623: in GS, MIM: 263800</li><li>G->V at 630: in GS: in dbSNP rsrs28936389, MIM: 263800</li><li>R->C at 642: in GS, MIM: 263800</li><li>R->G at 642: in GS, MIM: 263800</li><li>R->H at 642: in GS, MIM: 263800</li><li>P->L at 643: in GS, MIM: 263800</li><li>T->R at 649: in GS, MIM: 263800</li><li>R->C at 655: in GS, MIM: 263800</li><li>R->H at 655: in GS, MIM: 263800</li><li>R->L at 655: in GS, MIM: 263800</li><li>M->I at 672: in GS, MIM: 263800</li><li>V->L at 677: in GS, MIM: 263800</li><li>V->M at 677: in GS, MIM: 263800</li><li>A->T at 728: in dbSNP:rs36049418, MIM: 263800</li><li>G->V at 729: in GS, MIM: 263800</li><li>G->R at 731: in GS, MIM: 263800</li><li>L->R at 738: in GS, MIM: 263800</li><li>G->R at 741: in GS, MIM: 263800</li><li>L->H at 849: in GS, MIM: 263800</li><li>L->P at 850: in GS, MIM: 263800</li><li>R->C at 852: in GS, MIM: 263800</li><li>R->H at 852: in GS, MIM: 263800</li><li>R->S at 852: in GS, MIM: 263800</li><li>G->S at 867: in GS, MIM: 263800</li><li>R->H at 871: in GS, MIM: 263800</li><li>R->Q at 904: in dbSNP:rs11643718, MIM: 263800</li><li>R->C at 919: increases sodium transport; dbSNP:rs12708965, MIM: 263800</li><li>R->Q at 955: in GS, MIM: 263800</li><li>R->G at 958: in GS, MIM: 263800</li><li>C->Y at 985: in GS, MIM: 263800</li>	sodium transport	GO:0006814						Gitelman syndrome (GS) [MIM:263800]	<li>rs28936387</li><li>rs11643718</li><li>rs28936389</li><li>rs28936388</li><li>rs1529927</li><li>rs36049418</li>	2
P55040	2669		<li>R->G at 43: in dbSNP:rs2170363</li>									rs2170363	2
P55042	6236		<li>Q->P at 66: in dbSNP:rs7198458</li>									rs7198458	2
P55055	7376		<li>S->F at 2: in dbSNP:rs41379547</li>									rs41379547	2
P55056	346		<li>L->P at 36: in dbSNP:rs1132899</li><li>G->D at 52</li><li>P->Q at 75: in a breast cancer sample; somatic mutation</li><li>L->R at 96: in dbSNP:rs5167</li><li>Q->L at 126: in dbSNP:rs5168</li>									<li>rs5168</li><li>rs1132899</li><li>rs5167</li>	2
P55058	5360		<li>S->Y at 124: in dbSNP:rs11569636</li><li>R->Q at 282: in dbSNP rsrs56126980</li><li>R->H at 372</li><li>R->W at 380: in dbSNP:rs6065903</li><li>M->I at 425: in dbSNP:rs11569675</li><li>F->L at 444: in dbSNP:rs1804161</li><li>T->K at 487: in dbSNP:rs1056929</li>									<li>rs11569675</li><li>rs6065903</li><li>rs1056929</li><li>rs56126980</li><li>rs1804161</li><li>rs11569636</li>	2
P55060	1434		<li>I->V at 754: in dbSNP:rs2229042</li><li>C->F at 842: in a colorectal cancer sample; somatic mutation</li><li>V->L at 968: in dbSNP:rs3505</li>									<li>rs3505</li><li>rs2229042</li>	2
P55084	3032		<li>G->D at 59: in TFP deficiency, MIM: 609015</li><li>R->C at 61: in TFP deficiency, MIM: 609015</li><li>R->H at 61: in TFP deficiency, MIM: 609015</li><li>R->G at 117: in TFP deficiency, MIM: 609015</li><li>A->V at 119: in a breast cancer sample; somatic mutation, MIM: 609015</li><li>L->P at 121: in TFP deficiency, MIM: 609015</li><li>T->P at 133: in TFP deficiency, MIM: 609015</li><li>P->S at 209: in dbSNP:rs17851200, MIM: 609015</li><li>D->G at 242: in TFP deficiency, MIM: 609015</li><li>R->H at 247: in TFP deficiency, MIM: 609015</li><li>Missing  at 259-270: in TFP deficiency, MIM: 609015</li><li>D->G at 263: in TFP deficiency, MIM: 609015</li><li>G->D at 280: in TFP deficiency, MIM: 609015</li><li>P->L at 294: in TFP deficiency, MIM: 609015</li><li>P->R at 294: in TFP deficiency, MIM: 609015</li><li>G->S at 301: in TFP deficiency, MIM: 609015</li><li>R->K at 444: in TFP deficiency, MIM: 609015</li>							<li>P10274</li><li>P0C210</li><li>Q09SZ9</li><li>Q0R5R3</li><li>P03353</li><li>Q9HCM9</li><li>P14074</li>	Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	rs17851200	2
P55085	2150		<li>S->F at 21: in dbSNP:rs2243072</li><li>N->S at 30: in dbSNP:rs616235</li><li>R->Q at 270: in dbSNP:rs2243062</li><li>T->A at 291: in dbSNP:rs2243083</li>									<li>rs616235</li><li>rs2243062</li><li>rs2243083</li><li>rs2243072</li>	2
P55103	3626		<li>R->Q at 322: in dbSNP:rs2229357</li>									rs2229357	2
P55160	3071		<li>S->L at 402: in dbSNP:rs2270581</li>									rs2270581	2
P55198	4302		<li>A->T at 198: in dbSNP:rs2241012</li>									rs2241012	2
P55199	8178		<li>S->N at 297: in dbSNP:rs2303694</li><li>R->W at 387: in dbSNP:rs35245196</li>									<li>rs35245196</li><li>rs2303694</li>	2
P55201	7862		<li>G->E at 1117: in dbSNP:rs1042294</li><li>H->Q at 1193: in dbSNP:rs36081837</li>									<li>rs36081837</li><li>rs1042294</li>	2
P55211	842		<li>A->V at 28: in dbSNP:rs1052571</li><li>S->L at 99: in dbSNP:rs4646008</li><li>T->I at 102: in dbSNP:rs2308941</li><li>L->V at 106: in dbSNP:rs2308938</li><li>E->D at 114: in dbSNP:rs2020897</li><li>R->H at 173: in dbSNP:rs2308950</li><li>G->R at 176: in dbSNP:rs2308949</li><li>I->M at 185: in dbSNP:rs9282624</li><li>R->C at 192: in dbSNP:rs2308939</li><li>Q->R at 221: in dbSNP:rs1052576</li>									<li>rs2308939</li><li>rs2308938</li><li>rs1052576</li><li>rs2308949</li><li>rs2308950</li><li>rs1052571</li><li>rs9282624</li><li>rs2308941</li><li>rs2020897</li><li>rs4646008</li>	2
P55268	3913		<li>R->Q at 246: in congenital nephrotic syndrome; without ocular abnormalities, MIM: 609049</li><li>R->W at 246: in Pierson syndrome, MIM: 609049</li><li>C->R at 321: in congenital nephrotic syndrome; with mild ocular abnormalities, MIM: 609049</li><li>E->K at 987: in dbSNP:rs34759087, MIM: 609049</li><li>N->K at 1380: in congenital nephrotic syndrome; with mild ocular abnormalities; associated with F-1393, MIM: 609049</li><li>L->F at 1393: in congenital nephrotic syndrome; with mild ocular abnormalities; associated with K-1380, MIM: 609049</li>								<li>Pierson syndrome [MIM:609049]</li><li>Congenital nephrotic syndrome [MIM:609049]</li>	rs34759087	2
P55283	1002		<li>A->V at 141: in dbSNP:rs34937312</li><li>K->R at 625: in dbSNP:rs6142884</li>									<li>rs34937312</li><li>rs6142884</li>	2
P55287	1009		<li>T->M at 255: in dbSNP:rs35195</li><li>M->I at 275: in dbSNP:rs1130821</li><li>S->A at 373: in dbSNP:rs35213</li>									<li>rs35195</li><li>rs35213</li><li>rs1130821</li>	2
P55289	1010		<li>V->M at 68: in dbSNP:rs4371716</li><li>E->K at 86: in dbSNP:rs7236</li><li>I->V at 284: in dbSNP:rs17328673</li><li>I->T at 475: in dbSNP:rs12108814</li>									<li>rs4371716</li><li>rs17328673</li><li>rs7236</li><li>rs12108814</li>	2
P55290	1012		<li>L->S at 121: in dbSNP:rs7197352</li>									rs7197352	2
P55317	3169		<li>A->G at 72</li><li>A->T at 83: in dbSNP rsrs7144658</li><li>Missing at 125</li><li>R->Q at 186</li><li>S->N at 449</li>									rs7144658	2
P55318	3171		<li>G->R at 91</li>										2
P55347	5316		<li>R->H at 126: in dbSNP:rs9976017</li><li>T->A at 216: in dbSNP:rs17115709</li><li>V->I at 265: in a colorectal cancer sample; somatic mutation</li>									<li>rs17115709</li><li>rs9976017</li>	2
P55735	6396		<li>S->L at 172: in dbSNP:rs34078590</li>									rs34078590	2
P55773	6368		<li>M->V at 106: in dbSNP:rs1003645</li>									rs1003645	2
P55808	7499		<li>D->N at 60: in dbSNP:rs5939319</li>									rs5939319	2
P55809	5019		<li>T->M at 58</li><li>V->E at 133: in ketoacidosis, MIM: 245050</li><li>G->E at 219: in ketoacidosis, MIM: 245050</li><li>V->M at 221: in ketoacidosis, MIM: 245050</li><li>G->E at 324: in ketoacidosis, MIM: 245050</li><li>C->F at 456: in ketoacidosis, MIM: 245050</li>								Ketoacidosis [MIM:245050]		2
P55822	6450		<li>V->A at 188: in dbSNP:rs9974333</li>									rs9974333	2
P55851	7351		<li>A->V at 55: in dbSNP:rs660339</li><li>R->Q at 76: in dbSNP:rs45541732</li><li>R->Q at 154: in dbSNP:rs45486692</li><li>A->G at 268: in dbSNP:rs45490393</li><li>S->C at 282: in dbSNP:rs45596837</li>									<li>rs45596837</li><li>rs660339</li><li>rs45490393</li><li>rs45541732</li><li>rs45486692</li>	2
P55884	8662		<li>S->P at 64: in dbSNP:rs9690787</li><li>D->E at 793: in dbSNP:rs1063257</li>									<li>rs1063257</li><li>rs9690787</li>	2
P55895	5897		<li>C->W at 41: in OS, MIM: 603554</li><li>T->N at 77: in CHIDG; reduced recombination activity, MIM: 233650</li><li>R->Q at 229: in T, MIM: 601457</li><li>M->R at 285: in OS, MIM: 603554</li><li>E->G at 293: in dbSNP:rs16929093, MIM: 603554</li><li>G->A at 451: in CHIDG; reduced recombination activity, MIM: 233650</li><li>C->Y at 478: in T, MIM: 601457</li>								<li>Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]</li><li>Omenn syndrome (OS) [MIM:603554]</li><li>Severe combined immunodeficiency, autosomal recessive T cell-negative, B-cell-negative, NK cell-positive (T(-)B(-)NK(+)SCID) [MIM:601457]</li>	rs16929093	2
P55916	7352		<li>V->M at 9: in dbSNP:rs8179180</li><li>R->W at 70: in severe obesity with type 2 diabetes: in dbSNP rsrs17848368</li><li>V->I at 102: in obesity; dbSNP:rs2229707</li>									<li>rs17848368</li><li>rs2229707</li><li>rs8179180</li>	2
P55957	637		<li>S->G at 10: in dbSNP:rs8190315</li><li>H->Q at 162: in dbSNP:rs17853595</li>									<li>rs8190315</li><li>rs17853595</li>	2
P56159	2674		<li>Y->N at 85: in dbSNP:rs8192662</li><li>T->A at 366: in dbSNP:rs2072276</li><li>L->R at 371: may be involved in congenital central hypoventilation syndrome</li>									<li>rs8192662</li><li>rs2072276</li>	2
P56177	1745		<li>S->C at 136: in dbSNP:rs17853565</li>									rs17853565	2
P56178	1749		<li>S->R at 234: in dbSNP:rs35273378</li>									rs35273378	2
P56180	7179		<li>R->Q at 144: in a breast cancer sample; somatic mutation</li><li>P->L at 470: in dbSNP:rs150482</li>									rs150482	2
P56182	8568		<li>I->V at 194: in dbSNP:rs34224504</li><li>K->R at 326: in dbSNP:rs915770</li>									<li>rs34224504</li><li>rs915770</li>	2
P56192	4141		<li>A->D at 683: in dbSNP:rs1054403</li>									rs1054403	2
P56199	3672		<li>T->M at 480: in dbSNP:rs4145748</li><li>V->I at 670: in dbSNP:rs2279587</li><li>I->M at 961: in dbSNP:rs12520591</li><li>E->G at 1108: in dbSNP:rs988574</li>									<li>rs2279587</li><li>rs988574</li><li>rs12520591</li><li>rs4145748</li>	2
P56282	5427		<li>H->P at 84: in dbSNP rsrs34857719</li><li>L->V at 456: in dbSNP:rs34574266</li><li>P->L at 514: in dbSNP rsrs45515094</li>									<li>rs34574266</li><li>rs45515094</li><li>rs34857719</li>	2
P56373	5024		<li>A->V at 383: in dbSNP:rs2276038</li>									rs2276038	2
P56378	9556		<li>I->V at 9: in dbSNP:rs1053419</li>									rs1053419	2
P56470	3960		<li>T->M at 16: in dbSNP:rs8106404</li>									rs8106404	2
P56539	859		<li>V->L at 14: in SIDS, MIM: 272120</li><li>R->Q at 27: in hyperCKmia, RMD, LGMD1C and distal myopathy, MIM: 606072</li><li>D->E at 28: in RMD and LGMD1C, MIM: 606072</li><li>P->L at 29: in hyperCKmia, MIM: 123320</li><li>N->K at 33: in LGMD1C and distal myopathy, MIM: 607801</li><li>V->E at 44: in LGMD1C, MIM: 607801</li><li>A->T at 46: in LGMD1C and RMD; decreased surface expression of the CAV3 protein, MIM: 606072</li><li>A->V at 46: in RMD, MIM: 606072</li><li>S->G at 53: in RMD, MIM: 606072</li><li>G->S at 56, MIM: 606072</li><li>V->M at 57: in hyperCKmia, MIM: 123320</li><li>S->R at 61: in a patient with mild proximal myopathy, MIM: 123320</li><li>Missing  at 64-66: in LGMD1C, MIM: 123320</li><li>T->P at 64: in LGMD1C, MIM: 607801</li><li>T->S at 64: in CMH, MIM: 192600</li><li>C->W at 72, MIM: 192600</li><li>T->M at 78: in LQT9 and SIDS, MIM: 272120</li><li>L->R at 79: in LQT9 and SIDS, MIM: 272120</li><li>A->T at 85: in LQT9, MIM: 611818</li><li>L->P at 87: in RMD; dbSNP:rs28936685, MIM: 606072</li><li>A->T at 93: in RMD; dbSNP:rs28936686, MIM: 606072</li><li>F->C at 97: in LQT9; increase in late sodium current, MIM: 611818</li><li>Missing  at 97: in hyperCKmia, MIM: 611818</li><li>P->L at 105: in LGMD1C and RMD, MIM: 606072</li><li>R->H at 126, MIM: 606072</li><li>S->R at 141: in LQT9; increase in late sodium current, MIM: 611818</li>							<li>Q3ZDQ5</li><li>Q2KI43</li><li>P56539</li>	<li>Cardiomyopathy familial hypertrophic (CMH) [MIM:192600]</li><li>HyperCKmia [MIM:123320]</li><li>Long QT syndrome type 9 (LQT9) [MIM:611818]</li><li>Rippling muscle disease (RMD) [MIM:606072]</li><li>Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801]</li><li>Sudden infant death syndrome (SIDS) [MIM:272120]</li>	<li>rs28936686</li><li>rs28936685</li>	2
P56545	1488		<li>E->D at 47: in dbSNP:rs3198926</li>									rs3198926	2
P56556	4700		<li>A->V at 9: in dbSNP:rs1801311</li>									rs1801311	2
P56645	8863		<li>V->G at 639: associated with delayed sleep phase syndrome : in dbSNP rsrs10462020</li><li>P->L at 827: in dbSNP:rs228696</li><li>P->A at 856: in dbSNP:rs228697</li><li>A->T at 1007: in dbSNP:rs1776342</li><li>T->I at 1010: in dbSNP:rs12033719</li><li>M->T at 1028: in dbSNP:rs2640909</li><li>S->C at 1081: in dbSNP:rs2640905</li><li>H->R at 1149: in dbSNP:rs10462021</li>	sleep	GO:0030431							<li>rs10462021</li><li>rs1776342</li><li>rs10462020</li><li>rs2640909</li><li>rs12033719</li><li>rs228696</li><li>rs228697</li><li>rs2640905</li>	2
P56693	6663		<li>S->T at 135: in Yemenite deaf-blind hypopigmentation syndrome, MIM: 601706</li><li>R->RLR at 161: in WS4, MIM: 601706</li>								Yemenite deaf-blind hypopigmentation syndrome [MIM:601706]		2
P56696	9132		<li>L->H at 274: in DFNA2, MIM: 600101</li><li>W->S at 276: in DFNA2, MIM: 600101</li><li>L->S at 281: in DFNA2, MIM: 600101</li><li>G->C at 285: in DFNA2; loss of potassium selectivity of the pore: in dbSNP rsrs28937588, MIM: 600101</li><li>G->S at 285: in DFNA2; no current : in dbSNP rsrs28937588, MIM: 600101</li><li>G->S at 321: in DFNA2: in dbSNP rsrs28939710, MIM: 600101</li>					pore	GO:0046930		Non-syndromic sensorineural deafness autosomal dominant type 2 (DFNA2) [MIM:600101]	<li>rs28939710</li><li>rs28937588</li>	2
P56705	54361		<li>L->P at 12: in RKH syndrome; unable to suppress steroidogenesis in an ovarian adenocarcinoma cell line resulting in increased androgen production, MIM: 277000</li><li>R->C at 83: in RKH syndrome; with androgen excess, normal kidney size and location; unable to suppress expression of steroidogenic enzymes in ovarian; impairs protein secretion, MIM: 277000</li><li>A->V at 114: in SERKAL; reduced transcript levels, MIM: 611812</li><li>E->G at 216: in RKH syndrome; unable to suppress expression of steroidogenic enzymes in ovarian and adrenal cell lines, MIM: 277000</li><li>P->L at 277: in dbSNP:rs34228276, MIM: 277000</li>	<li>steroidogenesis</li><li>protein secretion</li>	<li>GO:0006694</li><li>GO:0009306</li>						<li>Female sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL) [MIM:611812]</li><li>Rokitansky-Kuster-Hauser syndrome (RKH syndrome) [MIM:277000]</li>	rs34228276	2
P56715	6101		<li>Y->C at 251: in dbSNP:rs16920614</li><li>T->M at 752: in dbSNP:rs28399531</li><li>R->H at 872: in dbSNP:rs444772</li><li>V->L at 945: in dbSNP:rs16920621</li><li>N->Y at 985: in dbSNP:rs2293869</li><li>R->Q at 1595: in dbSNP:rs35084330</li><li>A->T at 1670: in dbSNP:rs446227</li><li>S->P at 1691: in dbSNP:rs414352</li><li>C->Y at 2033</li>									<li>rs16920621</li><li>rs16920614</li><li>rs2293869</li><li>rs446227</li><li>rs414352</li><li>rs35084330</li><li>rs444772</li><li>rs28399531</li>	2
P56730	8492		<li>A->S at 606: in dbSNP:rs28661939</li><li>R->Q at 833: in dbSNP:rs17594503</li>									<li>rs17594503</li><li>rs28661939</li>	2
P56747	9074		<li>I->V at 143: in dbSNP:rs2257295</li>									rs2257295	2
P56748	9073		<li>T->A at 25: in dbSNP:rs1557294</li><li>T->A at 129: in dbSNP:rs685967</li><li>S->P at 151: in dbSNP:rs686364</li>									<li>rs686364</li><li>rs1557294</li><li>rs685967</li>	2
P56750	26285		<li>A->T at 82: in dbSNP:rs35531957</li>									rs35531957	2
P56817	23621		<li>R->C at 481: in dbSNP:rs539765</li>									rs539765	2
P56851	64184		<li>L->V at 5: in dbSNP:rs3827906</li>									rs3827906	2
P56856	51208		<li>M->L at 149: in dbSNP:rs17204075</li>									rs17204075	2
P56945	9564		<li>S->T at 407: in a breast cancer sample; somatic mutation</li>										2
P56975	10718		<li>S->R at 472: in dbSNP:rs2295934</li><li>K->N at 552: in dbSNP:rs17101193</li>									<li>rs2295934</li><li>rs17101193</li>	2
P57052	54033		<li>L->V at 116: in dbSNP:rs409782</li>									rs409782	2
P57054	51227		<li>Y->C at 118: in dbSNP:rs16994704</li><li>R->S at 136: in dbSNP:rs2276231</li>									<li>rs2276231</li><li>rs16994704</li>	2
P57057	54020		<li>D->N at 247</li><li>I->V at 414: in dbSNP:rs228104</li>									rs228104	2
P57058	30811		<li>R->W at 157: in dbSNP rsrs35133981</li><li>R->C at 591: in dbSNP:rs10775648</li><li>E->K at 625: in dbSNP rsrs56021554</li><li>M->T at 648: in dbSNP rsrs56240027</li>									<li>rs56240027</li><li>rs56021554</li><li>rs35133981</li><li>rs10775648</li>	2
P57071	63977		<li>V->I at 1342: in dbSNP:rs3819158</li><li>T->S at 1376: in dbSNP:rs2236695</li><li>S->P at 1481: in dbSNP:rs3850706</li>									<li>rs2236695</li><li>rs3819158</li><li>rs3850706</li>	2
P57077	56911		<li>I->V at 112: in dbSNP:rs3746843</li>									rs3746843	2
P57078			<li>A->G at 12: in dbSNP:rs6586239</li><li>S->N at 177: in dbSNP:rs12482626</li><li>I->N at 462</li><li>V->M at 463</li><li>N->Y at 562</li><li>R->H at 669</li><li>P->S at 749</li>									<li>rs6586239</li><li>rs12482626</li>	2
P57081	10785		<li>K->N at 71: in dbSNP:rs2248490</li><li>P->S at 266: in dbSNP:rs15736</li><li>R->Q at 390: in dbSNP:rs6586250</li>									<li>rs6586250</li><li>rs2248490</li><li>rs15736</li>	2
P57082	9496		<li>G->A at 6: in dbSNP:rs3744448</li><li>A->V at 35</li><li>G->V at 248: in SPS: in dbSNP rsrs28938474, MIM: 147891</li><li>A->V at 314: in dbSNP:rs3744438, MIM: 147891</li><li>Q->R at 531: in SPS: in dbSNP rsrs28936696, MIM: 147891</li>							<li>P49903</li><li>Q43845</li><li>P31927</li><li>Q43876</li><li>P49031</li>	Small patella syndrome (SPS) [MIM:147891]	<li>rs3744438</li><li>rs3744448</li><li>rs28938474</li><li>rs28936696</li>	2
P57087	58494		<li>S->R at 286: in dbSNP:rs9976382</li>									rs9976382	2
P57103	6547		<li>E->Q at 612: in a breast cancer sample; somatic mutation</li>										2
P57105	55333		<li>V->I at 9: in dbSNP:rs4356408</li>									rs4356408	2
P57678			<li>A->G at 579: in dbSNP:rs910925</li><li>R->Q at 684: in dbSNP:rs3744741</li><li>R->C at 1033: in dbSNP:rs7813</li>									<li>rs7813</li><li>rs910925</li><li>rs3744741</li>	2
P57679	2121		<li>Q->P at 74: in dbSNP:rs2291157</li><li>A->V at 114: in dbSNP:rs16837598</li><li>Y->H at 258: in dbSNP:rs6414624</li><li>S->P at 307: in WAD, MIM: 193530</li><li>T->M at 372: in dbSNP:rs28483498, MIM: 193530</li><li>G->S at 403, MIM: 193530</li><li>R->Q at 443: in EVC; dbSNP:rs35953626, MIM: 225500</li><li>T->K at 449: in dbSNP:rs2302075, MIM: 225500</li><li>R->Q at 576: in dbSNP:rs1383180, MIM: 225500</li><li>R->Q at 760: in dbSNP:rs2279252, MIM: 225500</li><li>D->G at 953, MIM: 225500</li><li>Missing at 965, MIM: 225500</li>							P57679	<li>Acrofacial dysostosis Weyers type (WAD) [MIM:193530]</li><li>Ellis-van Creveld syndrome (EVC) [MIM:225500]</li>	<li>rs1383180</li><li>rs35953626</li><li>rs16837598</li><li>rs2302075</li><li>rs28483498</li><li>rs2291157</li><li>rs6414624</li><li>rs2279252</li>	2
P57682	51274		<li>R->S at 207: in dbSNP:rs17616226</li>									rs17616226	2
P57723	57060		<li>G->S at 198: in dbSNP:rs323872</li>									rs323872	2
P57727	64699		<li>V->I at 53: in dbSNP:rs928302</li><li>D->G at 103: in DFNB8/DFNB10</li><li>R->W at 109: in DFNB8/DFNB10</li><li>G->S at 111: in dbSNP:rs35227181</li><li>D->N at 173</li><li>C->F at 194: in DFNB8/DFNB10</li><li>R->L at 216: in DFNB8/DFNB10; fails to undergo proteolytic cleavage and is unable to activate ENaC</li><li>W->C at 251: in DFNB8/DFNB10</li><li>I->V at 253: in dbSNP:rs2839500</li><li>P->L at 404: in DFNB8/DFNB10: in dbSNP rsrs28939084</li><li>C->R at 407: in DFNB8/DFNB10</li><li>A->T at 426: in dbSNP rsrs56264519</li>									<li>rs28939084</li><li>rs56264519</li><li>rs928302</li><li>rs35227181</li><li>rs2839500</li>	2
P57729	23682		<li>K->T at 111: in a colorectal cancer sample; somatic mutation</li>										2
P57768	64089		<li>P->L at 98: in dbSNP:rs16919654</li>									rs16919654	2
P57773	81025		<li>V->I at 497: in dbSNP:rs880303</li>									rs880303	2
P57789	54207		<li>A->T at 512: in dbSNP:rs17762463</li>									rs17762463	2
P57796	57010		<li>R->C at 124: in CSNB2B, MIM: 610427</li>								Congenital stationary night blindness type 2B (CSNB2B) [MIM:610427]		2
P58004	83667		<li>T->A at 320: in dbSNP:rs2274848</li>									rs2274848	2
P58005	143686		<li>R->C at 71: in dbSNP:rs10160385</li><li>I->T at 227: in dbSNP:rs11021069</li>									<li>rs11021069</li><li>rs10160385</li>	2
P58012	668		<li>S->L at 58: in BPES; sporadic; nuclear and cytoplasmic aggregation; impaired transactivation activity, MIM: 110100</li><li>M->V at 65: in BPES, MIM: 110100</li><li>A->V at 66: in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity, MIM: 110100</li><li>E->K at 69: in BPES; sporadic; nuclear aggregation; normal transactivation activity, MIM: 110100</li><li>I->T at 80: in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity, MIM: 110100</li><li>I->N at 84: in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity, MIM: 110100</li><li>I->S at 84: in BPES; type I; dbSNP:rs28937884, MIM: 110100</li><li>Missing  at 85: in BPES; sporadic, MIM: 110100</li><li>F->S at 90: in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity, MIM: 110100</li><li>W->G at 98: in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity, MIM: 110100</li><li>S->R at 101: in BPES; nuclear aggregation; impaired transactivation activity, MIM: 110100</li><li>I->T at 102: in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity, MIM: 110100</li><li>R->C at 103: in BPES; nuclear and cytoplasmic aggregation; normal transactivation activity, MIM: 110100</li><li>H->R at 104: in BPES; diffuse nuclear localization as wild type; normal transactivation activity, MIM: 110100</li><li>N->S at 105: in BPES; type II, MIM: 110100</li><li>L->F at 106: in BPES; sporadic; nuclear and cytoplasmic aggregation; impaired transactivation activity, MIM: 110100</li><li>L->P at 106: in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity, MIM: 110100</li><li>N->K at 109: in BPES; type II; diffuse nuclear localization as wild type; impaired transactivation activity, MIM: 110100</li><li>A->G at 179: in dbSNP:rs7432551, MIM: 110100</li><li>G->D at 187, MIM: 110100</li><li>K->R at 193: in BPES; type II, MIM: 110100</li><li>Y->C at 215: in BPES, MIM: 110100</li><li>S->F at 217: in BPES; diffuse nuclear localization as wild type; increased transactivation activity, MIM: 110100</li><li>A->AAAAAA at 234: in BPES; significant higher cytoplasmic retention compared to the wild-type protein, MIM: 110100</li><li>A->AAAAAAAAAAA at 234: in BPES; type II, MIM: 110100</li><li>A->AAAAAAAAAAAA at 234: in BPES, MIM: 110100</li><li>Y->N at 258: in POF3; dbSNP:rs28937885, MIM: 608996</li><li>P->S at 285, MIM: 608996</li>	localization	GO:0051179						<li>Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]</li><li>Premature ovarian failure 3 (POF3) [MIM:608996]</li>	<li>rs7432551</li><li>rs28937885</li><li>rs28937884</li>	2
P58166	83729		<li>R->T at 62: in a breast cancer sample; somatic mutation</li><li>Q->H at 215: in a breast cancer sample; somatic mutation</li>										2
P58173	26212		<li>V->I at 117: in dbSNP:rs7767176</li><li>Q->R at 270: in dbSNP:rs9380030</li>									<li>rs7767176</li><li>rs9380030</li>	2
P58181	26496		<li>F->V at 20: in dbSNP:rs16934214</li>									rs16934214	2
P58215	84695		<li>I->F at 615: in dbSNP:rs17010021</li>									rs17010021	2
P58294	84432		<li>V->I at 67: in dbSNP:rs7514102</li>									rs7514102	2
P58304	338917		<li>P->Q at 100: in dbSNP:rs35214083</li><li>R->P at 200: in MCOPCTI; loss of DNA binding capacity, MIM: 610092</li><li>R->Q at 200: in MCOPCTI; loss of DNA binding capacity, MIM: 610092</li><li>R->W at 227: in MCOP2, MIM: 610093</li>			DNA binding	GO:0003677				<li>Microphthalmia isolated type 2 (MCOP2) [MIM:610093]</li><li>Microphthalmia with cataracts and iris abnormalities (MCOPCTI) [MIM:610092]</li>	rs35214083	2
P58335	118429		<li>L->P at 45: in ISH, MIM: 236490</li><li>G->D at 105: in JHF, MIM: 228600</li><li>I->T at 189: in ISH, MIM: 236490</li><li>C->R at 218: in ISH, MIM: 236490</li><li>V->VQ at 293: in JHF, MIM: 236490</li><li>L->R at 329: in JHF, MIM: 228600</li><li>P->A at 357: in dbSNP:rs12647691, MIM: 228600</li><li>Y->C at 381: in JHF, MIM: 228600</li>								<li>Juvenile hyaline fibromatosis (JHF) [MIM:228600]</li><li>Infantile systemic hyalinosis (ISH) [MIM:236490]</li>	rs12647691	2
P58340	4291		<li>P->T at 226: in dbSNP:rs15967</li>									rs15967	2
P58418	7401		<li>K->I at 7: in dbSNP:rs3796241</li><li>C->G at 40: in USH3, MIM: 276902</li><li>N->K at 48: in USH3, MIM: 276902</li><li>S->P at 105: in USH3, MIM: 276902</li><li>M->K at 120: in USH3, MIM: 276902</li><li>L->P at 150: in USH3, MIM: 276902</li><li>IL->M at 153-154: in USH3, MIM: 276902</li>								Usher syndrome type 3 (USH3) [MIM:276902]	rs3796241	2
P58499	54097		<li>V->M at 14: in dbSNP:rs2838012</li>									rs2838012	2
P58511	54065		<li>K->R at 51: in dbSNP:rs34016792</li>									rs34016792	2
P58872	162494		<li>V->M at 255: in dbSNP:rs4795690</li>									rs4795690	2
P59020			<li>G->V at 23: in dbSNP:rs1888464</li><li>R->L at 76: in dbSNP:rs13864</li>									<li>rs13864</li><li>rs1888464</li>	2
P59025	132112		<li>R->S at 124: in a breast cancer sample; somatic mutation</li><li>A->G at 212: in dbSNP:rs35053281</li><li>Q->E at 229: in dbSNP:rs6764714</li>									<li>rs35053281</li><li>rs6764714</li>	2
P59046	91662		<li>G->V at 39: in dbSNP:rs34436714</li><li>F->L at 402: in dbSNP:rs34971363</li>									<li>rs34436714</li><li>rs34971363</li>	2
P59092			<li>C->Y at 49: in dbSNP:rs2831368</li>									rs2831368	2
P59093			<li>T->M at 42: in dbSNP:rs1054926</li><li>P->T at 46: in dbSNP:rs10439727</li>									<li>rs10439727</li><li>rs1054926</li>	2
P59095	147323		<li>E->K at 159: in dbSNP:rs2917782</li>									rs2917782	2
P59103	267012		<li>R->K at 30: in dbSNP:rs2391191</li><li>K->E at 62: in dbSNP:rs9558562</li>									<li>rs2391191</li><li>rs9558562</li>	2
P59533	5726		<li>A->P at 49: in dbSNP:rs713598</li><li>A->V at 262: in dbSNP:rs1726866</li><li>I->V at 296: in dbSNP:rs10246939</li>									<li>rs713598</li><li>rs10246939</li><li>rs1726866</li>	2
P59534	259285		<li>S->F at 193: in dbSNP:rs35474877</li><li>K->E at 197: in dbSNP:rs34169190</li>									<li>rs34169190</li><li>rs35474877</li>	2
P59535	259286		<li>V->L at 23: in dbSNP:rs17164164</li><li>S->Y at 187: in dbSNP:rs10260248</li>									<li>rs10260248</li><li>rs17164164</li>	2
P59538			<li>R->W at 35: in dbSNP:rs10845295</li><li>M->L at 162: in dbSNP:rs10743938</li><li>Q->E at 217: in dbSNP:rs10845294</li><li>A->V at 227: in dbSNP:rs10845293</li><li>V->I at 240: in dbSNP:rs10772423</li>									<li>rs10743938</li><li>rs10845295</li><li>rs10772423</li><li>rs10845294</li><li>rs10845293</li>	2
P59542	259294		<li>K->Q at 126: in dbSNP:rs12424373</li><li>R->C at 299: in dbSNP:rs10772420</li>									<li>rs10772420</li><li>rs12424373</li>	2
P59543	259295		<li>K->E at 79: in dbSNP:rs7135018</li><li>H->Q at 143: in dbSNP:rs12226920</li><li>H->N at 148: in dbSNP:rs12226919</li><li>I->V at 236: in dbSNP:rs10845281</li><li>F->S at 252: in dbSNP:rs10845280</li><li>R->L at 255: in dbSNP:rs10845279</li>									<li>rs12226919</li><li>rs10845280</li><li>rs10845281</li><li>rs10845279</li><li>rs7135018</li><li>rs12226920</li>	2
P59544	259296		<li>Y->C at 203: in dbSNP:rs1376251</li>									rs1376251	2
P59796	257202		<li>Q->L at 6: in dbSNP rsrs35510314</li><li>F->L at 13: in dbSNP:rs406113</li><li>Y->H at 53: in dbSNP:rs34825130</li><li>Q->H at 58: in dbSNP:rs6922986</li><li>Y->N at 72: in dbSNP:rs35062161</li><li>E->D at 136: in dbSNP:rs35394555</li><li>V->M at 140: in dbSNP rsrs36055795</li><li>P->S at 157: in dbSNP rsrs35658392</li><li>D->G at 161: in dbSNP rsrs34955392</li><li>V->A at 188: in dbSNP:rs35701070</li>									<li>rs35701070</li><li>rs406113</li><li>rs34955392</li><li>rs35394555</li><li>rs36055795</li><li>rs6922986</li><li>rs34825130</li><li>rs35658392</li><li>rs35062161</li><li>rs35510314</li>	2
P59817			<li>K->N at 71: in dbSNP:rs361959</li><li>N->S at 136: in dbSNP:rs362011</li><li>Y->S at 137: in dbSNP:rs361580</li><li>N->S at 246: in dbSNP:rs362132</li><li>G->A at 249: in dbSNP:rs362124</li><li>L->F at 276: in dbSNP:rs16989015</li><li>N->D at 278: in dbSNP:rs362003</li><li>L->F at 486: in dbSNP:rs361762</li><li>R->S at 488: in dbSNP:rs361666</li>									<li>rs362124</li><li>rs361666</li><li>rs362132</li><li>rs361959</li><li>rs16989015</li><li>rs362003</li><li>rs361580</li><li>rs362011</li><li>rs361762</li>	2
P59826	359710		<li>V->M at 228: in dbSNP:rs4911290</li><li>T->M at 290: in dbSNP:rs2093066</li><li>H->Q at 334: in dbSNP:rs6057717</li><li>Y->C at 369: in dbSNP:rs6059063</li><li>P->S at 449: in dbSNP:rs378098</li>									<li>rs6057717</li><li>rs2093066</li><li>rs6059063</li><li>rs4911290</li><li>rs378098</li>	2
P59894	341019		<li>E->G at 7: in dbSNP:rs11031357</li><li>V->M at 83: in dbSNP:rs2761591</li>									<li>rs2761591</li><li>rs11031357</li>	2
P59923	353274		<li>Y->C at 428: in dbSNP:rs11710965</li>									rs11710965	2
P59942	401250		<li>E->K at 42: in dbSNP:rs2259435</li><li>N->S at 45: in dbSNP:rs3093983</li><li>T->M at 53</li>									<li>rs3093983</li><li>rs2259435</li>	2
P59991	353323		<li>A->V at 116: in dbSNP:rs12483730</li><li>S->P at 143: in dbSNP:rs2838622</li>									<li>rs12483730</li><li>rs2838622</li>	2
P60014	353333		<li>V->D at 20: in dbSNP:rs2838602</li><li>T->P at 72: in dbSNP:rs4818947</li><li>V->M at 158: in dbSNP:rs4818950</li>									<li>rs2838602</li><li>rs4818950</li><li>rs4818947</li>	2
P60022	1672		<li>V->I at 38: in dbSNP:rs2738047</li><li>A->V at 48: in dbSNP:rs1800967</li><li>C->S at 67: in dbSNP:rs1800968</li>									<li>rs2738047</li><li>rs1800967</li><li>rs1800968</li>	2
P60153	390443		<li>F->S at 148: in dbSNP:rs12590446</li><li>S->P at 204: in dbSNP:rs1243647</li>									<li>rs12590446</li><li>rs1243647</li>	2
P60174	7167		<li>C->Y at 42: in TPI deficiency: in dbSNP rsrs28934570, MIM: 190450</li><li>G->A at 73: in TPI deficiency, MIM: 190450</li><li>E->D at 105: in TPI deficiency; the enzyme becomes thermolabile, MIM: 190450</li><li>G->R at 123: in Manchester; thermolabile, MIM: 190450</li><li>V->M at 155: in TPI deficiency, MIM: 190450</li><li>I->V at 171: in TPI deficiency, MIM: 190450</li><li>V->M at 232: in TPI deficiency, MIM: 190450</li><li>F->L at 241: in TPI deficiency; Hungary; thermolabile, MIM: 190450</li>							<li>Q27775</li><li>Q589R5</li><li>O02611</li><li>P60174</li><li>Q7KQM0</li><li>P60175</li><li>Q12574</li><li>Q07412</li><li>P48501</li><li>P48494</li><li>Q9M4S8</li><li>P48497</li>	Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]	rs28934570	2
P60201	5354		<li>P->L at 15: in PMD, MIM: 312080</li><li>L->P at 31: in PMD, MIM: 312080</li><li>F->L at 32: in PMD, MIM: 312080</li><li>F->V at 32: in PMD, MIM: 312080</li><li>C->Y at 33: in PMD, MIM: 312080</li><li>C->R at 35: in PMD, MIM: 312080</li><li>C->Y at 35: in PMD, MIM: 312080</li><li>A->T at 39: in PMD, MIM: 312080</li><li>T->I at 43: in PMD, MIM: 312080</li><li>L->P at 46: in PMD/SPG2, MIM: 312080</li><li>L->R at 46: in PMD, MIM: 312080</li><li>Y->C at 50: in PMD, MIM: 312080</li><li>F->S at 51: in PMD, MIM: 312080</li><li>Y->C at 60: in PMD, MIM: 312080</li><li>G->R at 74: in PMD, MIM: 312080</li><li>A->P at 76: in PMD, MIM: 312080</li><li>T->K at 116: in PMD, MIM: 312080</li><li>Missing  at 117-165: in PMD, MIM: 312080</li><li>H->Y at 130: in SPG2, MIM: 312920</li><li>R->W at 137: in SPG2, MIM: 312920</li><li>H->Y at 140: in SPG2, MIM: 312920</li><li>H->Y at 148: in PMD/SPG2, MIM: 312920</li><li>K->N at 151: in PMD, MIM: 312080</li><li>T->I at 156: in PMD, MIM: 312080</li><li>V->E at 162: in PMD, MIM: 312080</li><li>W->R at 163: in PMD, MIM: 312080</li><li>V->E at 166: in PMD, MIM: 312080</li><li>V->G at 166: in PMD/SPG2, MIM: 312080</li><li>C->R at 169: in PMD, MIM: 312080</li><li>S->F at 170: in SPG2, MIM: 312920</li><li>S->P at 170: in PMD, MIM: 312080</li><li>V->A at 172: in PMD, MIM: 312080</li><li>P->S at 173: in PMD, MIM: 312080</li><li>Y->C at 175: in PMD, MIM: 312080</li><li>W->C at 181: in PMD, MIM: 312080</li><li>T->P at 182: in PMD, MIM: 312080</li><li>T->N at 183: in PMD, MIM: 312080</li><li>I->T at 187: in SPG2, MIM: 312920</li><li>D->E at 203: in PMD, MIM: 312080</li><li>D->G at 203: in PMD, MIM: 312080</li><li>D->H at 203: in PMD, MIM: 312080</li><li>D->N at 203: in PMD, MIM: 312080</li><li>D->V at 203: in PMD, MIM: 312080</li><li>R->G at 205: in PMD, MIM: 312080</li><li>Y->C at 207: in PMD, MIM: 312080</li><li>V->D at 209: in PMD, MIM: 312080</li><li>L->H at 210: in PMD, MIM: 312080</li><li>P->L at 211: in PMD, MIM: 312080</li><li>W->R at 212: in PMD, MIM: 312080</li><li>P->A at 216: in PMD, MIM: 312080</li><li>P->L at 216: in SPG2, MIM: 312920</li><li>P->S at 216: in PMD, MIM: 312080</li><li>G->S at 217: in PMD, MIM: 312080</li><li>V->F at 219: in PMD, MIM: 312080</li><li>C->Y at 220: in PMD, MIM: 312080</li><li>G->C at 221: in PMD, MIM: 312080</li><li>L->I at 224: in PMD/SPG2, MIM: 312080</li><li>L->P at 224: in PMD, MIM: 312080</li><li>L->P at 225: in PMD, MIM: 312080</li><li>S->P at 226: in SPG2, MIM: 312920</li><li>C->Y at 228: in PMD, MIM: 312080</li><li>Q->P at 234: in PMD, MIM: 312080</li><li>F->S at 237: in SPG2, MIM: 312920</li><li>L->P at 239: in PMD, MIM: 312080</li><li>A->P at 242: in PMD, MIM: 312080</li><li>A->E at 243: in PMD, MIM: 312080</li><li>A->V at 243: in PMD, MIM: 312080</li><li>G->A at 246: in PMD, MIM: 312080</li><li>G->E at 246: in PMD, MIM: 312080</li><li>A->T at 247: in PMD, MIM: 312080</li><li>A->E at 248: in PMD, MIM: 312080</li><li>A->P at 249: in PMD, MIM: 312080</li><li>S->F at 253: in PMD, MIM: 312080</li>							P15520	<li>Spastic paraplegia X-linked type 2 (SPG2) [MIM:312920]</li><li>Pelizaeus-Merzbacher disease (PMD) [MIM:312080]</li>		2
P60228	3646	<ul><li>L->D at 312: Promotes nuclear accumulation</li></ul>	<li>A->V at 185: in dbSNP:rs17856554</li>									rs17856554	3
P60328	386683		<li>R->H at 17: in dbSNP rsrs9306111</li>									rs9306111	2
P60331	386677		<li>P->L at 39: in dbSNP:rs233320</li><li>V->M at 101: in dbSNP:rs233319</li><li>R->Q at 241: in dbSNP:rs233317</li><li>P->L at 280: in dbSNP:rs233316</li>									<li>rs233317</li><li>rs233319</li><li>rs233316</li><li>rs233320</li>	2
P60368	386679		<li>N->D at 15: in dbSNP rsrs233240</li><li>P->T at 107: in dbSNP rsrs478967</li><li>A->P at 117: in dbSNP:rs233239</li><li>P->L at 177: in dbSNP:rs2329834</li><li>R->G at 241</li>									<li>rs2329834</li><li>rs478967</li><li>rs233239</li><li>rs233240</li>	2
P60369	386682		<li>T->A at 3: in dbSNP:rs452472</li><li>C->Y at 170: in dbSNP:rs233252</li>									<li>rs452472</li><li>rs233252</li>	2
P60370	386680		<li>D->N at 20: in dbSNP:rs2020221</li><li>F->C at 183: in dbSNP:rs380585</li><li>V->L at 235: in dbSNP:rs464424</li><li>Y->C at 247: in dbSNP:rs7509970</li><li>R->P at 268: in dbSNP:rs464391</li>									<li>rs464391</li><li>rs2020221</li><li>rs7509970</li><li>rs464424</li><li>rs380585</li>	2
P60371	386674		<li>C->CPSCCA at 81</li>										2
P60372	386672		<li>R->C at 62: in dbSNP rsrs233285</li><li>I->V at 159</li>									rs233285	2
P60409	386675		<li>M->V at 116: in dbSNP:rs944419</li><li>Q->K at 220: in dbSNP:rs363877</li><li>S->T at 290: in dbSNP:rs446817</li><li>T->A at 325: in dbSNP:rs369720</li>									<li>rs363877</li><li>rs369720</li><li>rs446817</li><li>rs944419</li>	2
P60410	386681		<li>H->R at 26: in dbSNP:rs411254</li><li>S->N at 64: in a colorectal cancer sample; somatic mutation</li><li>S->F at 159: in a breast cancer sample; somatic mutation</li>									rs411254	2
P60411	386676		<li>C->Y at 182: in dbSNP rsrs8127342</li>									rs8127342	2
P60412	386678		<li>Y->S at 213</li>										2
P60413	386685		<li>P->Q at 146: in dbSNP:rs35076450</li><li>G->S at 226: in dbSNP:rs34302939</li>									<li>rs34302939</li><li>rs35076450</li>	2
P60520	11345		<li>V->A at 51: in dbSNP:rs11556291</li>									rs11556291	2
P60568	3558		<li>Missing  at 21: in FT-IL2-A and FT-IL2-B</li><li>Missing  at 22: in FT-IL2-B</li>							<li>Q9XT83</li><li>P26891</li><li>P05016</li><li>Q25BC3</li><li>P68290</li><li>O62641</li><li>P68291</li><li>Q9XS38</li><li>P36835</li><li>Q29615</li><li>Q2PE78</li><li>Q865X2</li><li>Q865Y1</li><li>Q7JFM4</li><li>Q7JFM3</li><li>Q07885</li><li>Q7JFM5</li><li>Q4U313</li><li>O77620</li><li>Q08081</li><li>Q7JFM2</li><li>Q9XT84</li><li>O97513</li><li>P37997</li><li>Q29416</li><li>Q95KP3</li><li>P60568</li><li>P60569</li><li>Q5MBA8</li><li>Q5PXD0</li><li>P46649</li><li>Q1WM29</li><li>Q2PE47</li><li>P19114</li><li>Q8MKH2</li><li>P51747</li>			2
P60602	140823		<li>A->P at 28: in dbSNP:rs1044521</li>									rs1044521	2
P60660	4637		<li>T->I at 85: in dbSNP:rs11553509</li><li>T->P at 103: in dbSNP:rs1050470</li>									<li>rs1050470</li><li>rs11553509</li>	2
P60709	60		<li>R->W at 183: in DYTJ; modifies cell response to latrunculin A, MIM: 607371</li><li>P->L at 243: in dbSNP:rs11546899, MIM: 607371</li>								Juvenile-onset dystonia [MIM:607371]	rs11546899	2
P60852	22917		<li>T->I at 158: in dbSNP:rs489172</li>									rs489172	2
P60891	5631		<li>E->D at 43: in CMTX5, MIM: 311070</li><li>D->H at 52: in PRPS1 superactivity, MIM: 300661</li><li>N->S at 114: in PRPS1 superactivity, MIM: 300661</li><li>M->T at 115: in CMTX5, MIM: 311070</li><li>L->I at 129: in PRPS1 superactivity, MIM: 300661</li><li>Q->P at 133: in ARTS, MIM: 301835</li><li>L->P at 152: in ARTS, MIM: 301835</li><li>D->H at 183: in PRPS1 superactivity, MIM: 300661</li><li>A->V at 190: in PRPS1 superactivity, MIM: 300661</li><li>H->Q at 193: in PRPS1 superactivity, MIM: 300661</li><li>D->H at 203: in a breast cancer sample; somatic mutation, MIM: 300661</li><li>V->G at 219: in a breast cancer sample; somatic mutation, MIM: 300661</li><li>H->D at 231: in a colorectal cancer sample; somatic mutation, MIM: 300661</li>							<li>P60891</li><li>Q2HJ58</li><li>P32895</li>	<li>Charcot-Marie-Tooth disease X-linked recessive type 5 (CMTX5) [MIM:311070]</li><li>ARTS syndrome (ARTS) [MIM:301835]</li><li>Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]</li>		2
P60896	7979		<li>D->G at 17: in dbSNP:rs1802882</li>									rs1802882	2
P60900	5687		<li>A->S at 233: in dbSNP:rs15434</li>									rs15434	2
P60981	11034		<li>G->E at 139: in a colorectal cancer sample; somatic mutation</li>										2
P61106	51552		<li>A->T at 4</li>										2
P61218	5435		<li>Y->N at 60: in a breast cancer sample; somatic mutation</li>										2
P61278	6750		<li>A->V at 11: in dbSNP:rs35603672</li><li>N->T at 61: in dbSNP:rs33934967</li>									<li>rs35603672</li><li>rs33934967</li>	2
P61457	5092		<li>T->I at 79: in hyperphenylalaninemia, MIM: 264070</li><li>C->R at 82: in hyperphenylalaninemia; mild form, MIM: 264070</li><li>R->Q at 88: in hyperphenylalaninemia, MIM: 264070</li><li>E->K at 97: in hyperphenylalaninemia; mild form, MIM: 264070</li>								Hyperphenylalaninemia with primapterinuria (hyperphenylalaninemia) [MIM:264070]		2
P61626	4069		<li>I->T at 74: in AMYL8, MIM: 105200</li><li>D->H at 85: in AMYL8, MIM: 105200</li><li>T->N at 88: in dbSNP:rs1800973, MIM: 105200</li>								Amyloidosis type 8 (AMYL8) [MIM:105200]	rs1800973	2
P61758	7411		<li>M->V at 123: in dbSNP:rs572013</li>									rs572013	2
P61764	6812		<li>V->D at 84: in EIEE4; may alter protein structure, MIM: 612164</li><li>C->Y at 180: in EIEE4; reduced thermostability; decreased binding to STX1A, MIM: 612164</li><li>M->R at 443: in EIEE4; may alter protein structure, MIM: 612164</li><li>G->D at 544: in EIEE4; may alter protein structure, MIM: 612164</li>			binding	GO:0005488			<li>Q16623</li><li>Q5R4L2</li><li>P32850</li>	Early infantile epileptic encephalopathy type 4 (EIEE4) [MIM:612164]		2
P61769	567		<li>A->P at 11: in hypercatabolic hypoproteinemia; lower levels of beta-2-microglobulin, MHC class I and FcRn proteins, MIM: 241600</li>							<li>P01885</li><li>P01886</li><li>P13599</li><li>P55899</li><li>P21612</li><li>P55078</li><li>P19341</li><li>P55077</li><li>Q8SPV9</li><li>Q04714</li><li>P30442</li><li>Q03423</li>	Hypercatabolic hypoproteinemia [MIM:241600]		2
P61803	1603		<li>A->T at 83: in dbSNP:rs5742796</li>									rs5742796	2
P61812	7042		<li>R->H at 91: in dbSNP:rs10482721</li><li>V->L at 207: in dbSNP:rs10482810</li>									<li>rs10482721</li><li>rs10482810</li>	2
P61916	10577		<li>V->M at 30: in NPC2, MIM: 607625</li><li>V->M at 39: in NPC2; results in the synthesis of functional recombinant proteins correctly targeted to lysosomes, MIM: 607625</li><li>C->F at 47: in NPC2; leads to the synthesis of misfolded recombinant proteins that colocalized with an endoplasmic reticulum marker; normally secreted but unable to correct cholesterol storage in NPC2-deficient cells, MIM: 607625</li><li>S->P at 67: in NPC2; leads to the synthesis of misfolded recombinant proteins that colocalized with an endoplasmic reticulum marker; normally secreted but unable to correct cholesterol storage in NPC2-deficient cells; dbSNP:rs11694, MIM: 607625</li><li>P->L at 86: in dbSNP:rs4688, MIM: 607625</li><li>C->F at 93: in NPC2; leads to the synthesis of misfolded recombinant proteins that colocalized with an endoplasmic reticulum marker; normally secreted but unable to correct cholesterol storage in NPC2-deficient cells, MIM: 607625</li><li>C->R at 99: in NPC2; leads to the synthesis of misfolded recombinant proteins that colocalized with an endoplasmic reticulum marker; normally secreted but unable to correct cholesterol storage in NPC2-deficient cells, MIM: 607625</li><li>P->S at 120: in NPC2, MIM: 607625</li>					<li>endoplasmic reticulum</li><li>lysosomes</li>	<li>GO:0005783</li><li>GO:0005764</li>	<li>Q6CHU5</li><li>Q52FS9</li><li>Q6CNE0</li><li>P79345</li><li>P61918</li><li>Q756Q3</li><li>P61917</li><li>Q12408</li><li>Q5A8A2</li><li>Q9VQ62</li><li>O93388</li><li>P61916</li><li>Q4P580</li><li>Q6BV42</li><li>Q6FNB1</li><li>Q28895</li><li>O97763</li><li>Q5KIR9</li>	Niemann-Pick disease type C2 (NPC2) [MIM:607625]	<li>rs4688</li><li>rs11694</li>	2
P61927	6167		<li>G->E at 81: in dbSNP:rs14898</li>									rs14898	2
P62068	64854		<li>A->V at 81: in dbSNP:rs17475800</li>									rs17475800	2
P62070	22800		<li>Q->L at 72: in an ovarian tumor</li>										2
P62158	801		<li>M->T at 73: in dbSNP:rs41389749</li>									rs41389749	2
P62195	5705		<li>R->Q at 60: in a colorectal cancer sample; somatic mutation</li><li>R->W at 258: in dbSNP:rs11543211</li>									rs11543211	2
P62241	6202		<li>R->G at 110: in dbSNP:rs11537870</li>									rs11537870	2
P62324	694		<li>N->S at 139: in dbSNP:rs28399541</li><li>Q->E at 141: in dbSNP rsrs28399542</li>									<li>rs28399541</li><li>rs28399542</li>	2
P62424	6130		<li>A->V at 24: in dbSNP:rs12295</li>									rs12295	2
P62508	2104	<ul><li>F->A,E at 38: No effect on transcriptional activity</li><li>I->A at 39: 4-fold increase in transcriptional activity</li><li>K->R at 40: Abolishes sumoylation. 7-fold increase in transcriptional activity</li><li>T->A at 41: No effect on transcriptional activity</li><li>E->A at 42: 4-fold increase in transcriptional activity</li><li>S->A,E at 44: No effect on transcriptional activity</li><li>S->A at 45: Abolishes sumoylation. Increased transcriptional activity</li><li>S->D at 45: No change in sumoylation nor transcriptional activity</li></ul>	<li>T->M at 50: in dbSNP:rs11572693</li>	sumoylation	GO:0016925							rs11572693	3
P62736	59		<li>N->T at 117: in AAT6, MIM: 611788</li><li>R->Q at 118: in AAT6, MIM: 611788</li><li>Y->H at 135: in AAT6, MIM: 611788</li><li>R->C at 149: in AAT6, MIM: 611788</li><li>V->A at 154: in AAT6, MIM: 611788</li><li>T->S at 196: in dbSNP:rs1803028, MIM: 611788</li><li>R->C at 258: in AAT6, MIM: 611788</li><li>R->H at 258: in AAT6, MIM: 611788</li><li>R->G at 292: in AAT6, MIM: 611788</li><li>T->A at 320: in dbSNP:rs1803027, MIM: 611788</li><li>T->N at 353: in AAT6, MIM: 611788</li><li>H->P at 373: in dbSNP:rs1062398, MIM: 611788</li>								Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	<li>rs1062398</li><li>rs1803028</li><li>rs1803027</li>	2
P62753	6194		<li>K->R at 221: in dbSNP:rs17852447</li>									rs17852447	2
P62760	7447		<li>A->G at 65: in dbSNP:rs1042674</li><li>K->R at 172: in dbSNP:rs1042685</li>									<li>rs1042674</li><li>rs1042685</li>	2
P62805	121504		<li>E->Q at 64: in a breast cancer sample; somatic mutation</li>										2
P62861			<li>V->M at 19</li>										2
P62906	4736		<li>T->P at 154: in dbSNP:rs17838763</li>									rs17838763	2
P63208	6500		<li>F->L at 14: in dbSNP:rs11538034</li>									rs11538034	2
P63211	2792		<li>E->K at 50: in dbSNP:rs17243826</li>									rs17243826	2
P63252	3759		<li>R->W at 67: in LQT7, MIM: 170390</li><li>D->V at 71: in LQT7; loss of function and dominant-negative effect in current, MIM: 170390</li><li>Missing  at 95-98: in LQT7, MIM: 170390</li><li>D->N at 172: in SQT3; gain of function, MIM: 609622</li><li>P->L at 186: in LQT7, MIM: 170390</li><li>N->H at 216: in LQT7, MIM: 170390</li><li>R->W at 218: in LQT7; loss of function and dominant-negative effect in current, MIM: 170390</li><li>G->V at 300: in LQT7, MIM: 170390</li><li>V->M at 302: in LQT7, MIM: 170390</li><li>Missing  at 314-315: in LQT7, MIM: 170390</li>								<li>Short QT syndrome type 3 (SQT3) [MIM:609622]</li><li>Long QT syndrome type 7 (LQT7) [MIM:170390]</li>		2
P63261	71		<li>T->I at 89: in DFNA20; dbSNP:rs28999111, MIM: 604717</li><li>K->M at 118: in DFNA20, MIM: 604717</li><li>T->I at 160: in dbSNP:rs11549206, MIM: 604717</li><li>P->L at 264: in DFNA20, MIM: 604717</li><li>T->I at 278: in DFNA20; dbSNP:rs28999112, MIM: 604717</li><li>P->A at 332: in DFNA20, MIM: 604717</li><li>V->A at 370: in DFNA20; restricts cell growth at elevated temperature or under hyperosmolar stress as measured in growth assays with yeast expressing the mutation, MIM: 604717</li>								Non-syndromic sensorineural deafness autosomal dominant type 20 (DFNA20) [MIM:604717]	<li>rs28999111</li><li>rs11549206</li><li>rs28999112</li>	2
P63313	9168		<li>M->R at 7: in dbSNP:rs1804515</li>									rs1804515	2
P63316	7134		<li>L->Q at 29: in one patient with hypertrophic cardiomyopathy; unknown pathological significance</li><li>G->R at 159: in CMD1Z, MIM: 611879</li>								Cardiomyopathy dilated type 1Z (CMD1Z) [MIM:611879]		2
P67936	7171		<li>E->Q at 204: in a breast cancer sample; somatic mutation</li>										2
P68032	70		<li>H->Y at 90: in CMH11, MIM: 612098</li><li>R->C at 97: in CMH11, MIM: 612098</li><li>E->K at 101: in CMH11, MIM: 612098</li><li>M->V at 125: in patients with atrial septal defects; reduced affinity for myosin; normal actin filament polymerization ability; normal actomyosin motor function, MIM: 612098</li><li>P->A at 166: in CMH11, MIM: 612098</li><li>Y->C at 168: in CMH11, MIM: 612098</li><li>A->S at 297: in CMH11, MIM: 612098</li><li>M->L at 307: in CMH11, MIM: 612098</li><li>R->H at 314: in CMD1R, MIM: 102540</li><li>A->P at 333: in CMH11, MIM: 612098</li><li>E->G at 363: in CMD1R, MIM: 102540</li>					<li>actomyosin</li><li>myosin</li>	<li>GO:0042641</li><li>GO:0016459</li>	<li>Q92192</li><li>Q92193</li><li>P53499</li><li>P26183</li><li>P53498</li><li>O13419</li><li>Q9P4D1</li><li>P48465</li><li>P53455</li><li>Q39596</li><li>Q39758</li><li>P26182</li><li>P80709</li><li>Q9UVX4</li><li>O17320</li><li>P53689</li><li>P78711</li><li>P30161</li><li>P17128</li><li>P45521</li><li>P45520</li><li>P20904</li><li>P81085</li><li>Q6TCF2</li><li>Q99023</li><li>Q75D00</li><li>P51775</li><li>P10365</li><li>P60011</li><li>P60010</li><li>Q8SWN8</li><li>O16808</li><li>P02577</li><li>P10989</li><li>P68555</li><li>Q05214</li><li>Q8X119</li><li>O65316</li><li>O65315</li><li>O65314</li><li>P53491</li><li>P91754</li><li>P13363</li><li>P11426</li><li>O81221</li><li>Q11212</li><li>P50138</li><li>P53477</li><li>P53476</li><li>P60009</li><li>P53502</li><li>Q2U7A3</li><li>P53500</li><li>Q9UVZ8</li><li>P14235</li><li>O00937</li><li>Q9UVF3</li><li>Q24733</li><li>P90689</li><li>P24902</li><li>O74258</li>	<li>Cardiomyopathy dilated type 1R (CMD1R) [MIM:102540]</li><li>Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]</li>		2
P68133	58		<li>G->R at 17: in CM, MIM: 102610</li><li>H->Y at 42: in NEM3; severe, MIM: 161800</li><li>L->P at 96: in NEM3; autosomal recessive, MIM: 161800</li><li>N->S at 117: in NEM3; autosomal dominant, MIM: 161800</li><li>M->V at 134: in NEM3; autosomal dominant, MIM: 161800</li><li>I->M at 138: in NEM3; autosomal recessive, MIM: 161800</li><li>V->L at 165: in CM, MIM: 102610</li><li>G->D at 184: in NEM3; mild, MIM: 161800</li><li>R->C at 185: in NEM3; severe, MIM: 161800</li><li>R->G at 185: in NEM3; autosomal dominant; severe, MIM: 161800</li><li>L->P at 223: in CFTD, MIM: 255310</li><li>R->H at 258: in NEM3; severe, MIM: 161800</li><li>E->V at 261: in NEM3; autosomal recessive, MIM: 161800</li><li>Q->L at 265: in NEM3; severe, MIM: 161800</li><li>G->C at 270: in NEM3; autosomal dominant, MIM: 161800</li><li>M->R at 271: in NEM3; autosomal dominant, MIM: 161800</li><li>N->K at 282: in NEM3; severe, MIM: 161800</li><li>D->G at 288: in NEM3; severe, MIM: 161800</li><li>D->V at 294: in CFTD, MIM: 255310</li><li>P->S at 334: in CFTD, MIM: 255310</li><li>I->L at 359: in NEM3; autosomal dominant; severe, MIM: 161800</li><li>V->F at 372: in NEM3; severe, MIM: 161800</li>								<li>Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]</li><li>Congenital myopathy with excess of thin myofilaments (CM) [MIM:102610]</li><li>Nemaline myopathy type 3 (NEM3) [MIM:161800]</li>		2
P68871	3043		<li>V->A at 2: in Raleigh; O: in dbSNP rsrs33949930</li><li>H->L at 3: in Graz; dbSNP:rs35906307: in dbSNP rsrs33983205</li><li>H->Q at 3: in Okayama; O: in dbSNP rsrs713040</li><li>H->R at 3: in Deer Lodge; O: in dbSNP rsrs33983205</li><li>H->Y at 3: in Fukuoka: in dbSNP rsrs35906307</li><li>P->R at 6: in Warwickshire; dbSNP:rs34769005</li><li>E->A at 7: in G-Makassar: in dbSNP rsrs334</li><li>E->K at 7: in C: in dbSNP rsrs33930165</li><li>E->Q at 7: in Machida: in dbSNP rsrs33930165</li><li>E->V at 7: in S; sickle cell anemia; dbSNP:rs334</li><li>E->G at 8: in G-San Jose; mildly unstable; dbSNP:rs34948328: in dbSNP rsrs34387455</li><li>E->K at 8: in G-Siriraj: in dbSNP rsrs34948328</li><li>K->E at 9: in N-Timone; dbSNP:rs33932981: in dbSNP rsrs33926764</li><li>K->Q at 9: in J-Luhe: in dbSNP rsrs33926764</li><li>K->T at 9: in Rio Grande</li><li>S->C at 10: in Porto Alegre; O: in dbSNP rsrs33918131</li><li>A->D at 11: in Ankara: in dbSNP rsrs33947457</li><li>A->V at 11: in Iraq-Halabja: in dbSNP rsrs33947457</li><li>V->D at 12: in Windsor; O: in dbSNP rsrs35140348</li><li>V->I at 12: in Hamilton: in dbSNP rsrs33974228</li><li>A->D at 14: in J-Lens; dbSNP:rs35203747</li><li>L->P at 15: in Saki; unstable: in dbSNP rsrs33935445</li><li>L->R at 15: in Soegn; unstable: in dbSNP rsrs33935445</li><li>W->G at 16: in Randwick; unstable; dbSNP:rs33946157</li><li>W->R at 16: in Belfast; O</li><li>G->D at 17: in J-Baltimore/J-Trinidad/J-Ireland/J-Georgia/N-New Haven: in dbSNP rsrs33962676</li><li>G->R at 17: in D-Bushman: in dbSNP rsrs63751285</li><li>K->E at 18: in Nagasaki; dbSNP:rs33986703</li><li>K->N at 18: in J-Amiens: in dbSNP rsrs36006214</li><li>K->Q at 18: in Nikosia: in dbSNP rsrs33986703</li><li>V->M at 19: in Baden; slightly unstable; dbSNP:rs35802118</li><li>N->D at 20: in Alamo: in dbSNP rsrs34866629</li><li>N->K at 20: in D-Ouleh RABAH: in dbSNP rsrs63750840</li><li>N->S at 20: in Malay: in dbSNP rsrs33972047</li><li>V->M at 21: in Olympia; O: in dbSNP rsrs35890959</li><li>D->G at 22: in Connecticut; O: in dbSNP rsrs33977536</li><li>D->H at 22: in Karlskoga: in dbSNP rsrs33950093</li><li>D->N at 22: in Cocody: in dbSNP rsrs33950093</li><li>D->Y at 22: in Yusa: in dbSNP rsrs33950093</li><li>E->A at 23: in G-Coushatta/G-Saskatoon/G-Taegu/Hsin Chu: in dbSNP rsrs33936254</li><li>E->G at 23: in G-Taipei: in dbSNP rsrs33936254</li><li>E->K at 23: in E-Saskatoon; unstable: in dbSNP rsrs33959855</li><li>E->Q at 23: in D-Iran: in dbSNP rsrs33959855</li><li>E->V at 23: in D-Granada: in dbSNP rsrs33936254</li><li>V->D at 24: in Strasbourg; O: in dbSNP rsrs33945546</li><li>V->F at 24: in Palmerston North; O: in dbSNP rsrs33929459</li><li>V->G at 24: in Miyashiro; O: in dbSNP rsrs33945546</li><li>G->D at 25: in Moscva; O: in dbSNP rsrs35474880</li><li>G->R at 25: in Riverdale-Bronx; O: in dbSNP rsrs33972975</li><li>G->V at 25: in Savannah; unstable</li><li>G->D at 26: in J-Auckland; unstable; O: in dbSNP rsrs35474880</li><li>G->R at 26: in G-Taiwan Ami: in dbSNP rsrs34404985</li><li>E->K at 27: in E</li><li>E->V at 27: in Henri Mondor; slightly unstable</li><li>A->D at 28: in Volga/Drenthe; unstable: in dbSNP rsrs33954632</li><li>A->S at 28: in Knossos: in dbSNP rsrs35424040</li><li>A->V at 28: in Grange-blanche; O: in dbSNP rsrs33954632</li><li>L->P at 29: in Genova/Hyogo; unstable: in dbSNP rsrs33916412</li><li>L->Q at 29: in St Louis: in dbSNP rsrs33916412</li><li>G->D at 30: in Lufkin; unstable: in dbSNP rsrs35685286</li><li>R->S at 31: in Tacoma; unstable: in dbSNP rsrs1135071</li><li>L->P at 32: in Yokohama; unstable: in dbSNP rsrs33920173</li><li>L->R at 33: in Castilla; unstable: in dbSNP rsrs33948578</li><li>L->V at 33: in Muscat; slightly unstable: in dbSNP rsrs34314652</li><li>V->D at 35: in Santander; unstable: in dbSNP rsrs1135101</li><li>V->F at 35: in Pitie-Salpetriere; O: in dbSNP rsrs1141387</li><li>V->L at 35: in Nantes; increased oxygen affinity: in dbSNP rsrs1141387</li><li>Y->F at 36: in Philly; O: in dbSNP rsrs35857380</li><li>P->R at 37: in Sunnybrook: in dbSNP rsrs33993004</li><li>P->S at 37: in North Chicago; O: in dbSNP rsrs33948615</li><li>P->T at 37: in Linkoping/Finlandia; O: in dbSNP rsrs33948615</li><li>W->G at 38: in Howick: in dbSNP rsrs33994623</li><li>W->R at 38: in Rothschild; O: in dbSNP rsrs33994623</li><li>W->S at 38: in Hirose; O: in dbSNP rsrs33991059</li><li>T->N at 39: in Hinwil; O: in dbSNP rsrs34703513</li><li>Q->E at 40: in Vaasa; unstable: in dbSNP rsrs11549407</li><li>Q->K at 40: in Alabama: in dbSNP rsrs11549407</li><li>Q->R at 40: in Tianshui: in dbSNP rsrs35973315</li><li>F->Y at 42: in Mequon: in dbSNP rsrs33926796</li><li>Missing  at 42: in Bruxelles</li><li>F->L at 43: in Louisville; unstable</li><li>F->S at 43: in Hammersmith: in dbSNP rsrs34378160</li><li>Missing  at 43: in Bruxelles</li><li>E->Q at 44: in Hoshida/Chaya</li><li>S->C at 45: in Mississippi: in dbSNP rsrs34868397</li><li>F->S at 46: in Cheverly; unstable: in dbSNP rsrs33978338</li><li>G->E at 47: in K-Ibadan: in dbSNP rsrs35303218</li><li>D->A at 48: in Avicenna: in dbSNP rsrs33980484</li><li>D->G at 48: in Gavello: in dbSNP rsrs33980484</li><li>D->Y at 48: in Maputo: in dbSNP rsrs33932070</li><li>L->P at 49: in Bab-Saadoum; slightly unstable: in dbSNP rsrs33952850</li><li>S->F at 50: in Las Palmas; slightly unstable: in dbSNP rsrs33960931</li><li>T->K at 51: in Edmonton</li><li>P->R at 52: in Willamette; O: in dbSNP rsrs33969727</li><li>D->A at 53: in Ocho Rios: in dbSNP rsrs33919924</li><li>D->H at 53: in Summer Hill: in dbSNP rsrs33961886</li><li>V->D at 55: in Jacksonville; O: in dbSNP rsrs34037627</li><li>M->K at 56: in Matera; unstable: in dbSNP rsrs35094013</li><li>G->R at 57: in Hamadan: in dbSNP rsrs33935983</li><li>N->K at 58: in G-ferrara; unstable: in dbSNP rsrs35278874</li><li>P->R at 59: in Dhofar/Yukuhashi: in dbSNP rsrs33991472</li><li>K->E at 60: in I-High Wycombe: in dbSNP rsrs33969400</li><li>V->A at 61: in Collingwood; unstable: in dbSNP rsrs33931779</li><li>K->E at 62: in N-Seatlle: in dbSNP rsrs33995148</li><li>K->M at 62: in Bologna; O: in dbSNP rsrs34974709</li><li>K->N at 62: in Hikari: in dbSNP rsrs34446260</li><li>A->D at 63: in J-Europa: in dbSNP rsrs34151786</li><li>A->P at 63: in Duarte; unstable: in dbSNP rsrs34933455</li><li>H->Y at 64: in M-Saskatoon; O: in dbSNP rsrs33922873</li><li>K->M at 66: in J-Antakya: in dbSNP rsrs33932548</li><li>K->N at 66: in J-Sicilia: in dbSNP rsrs35747961</li><li>K->Q at 66: in J-Cairo: in dbSNP rsrs35353749</li><li>K->T at 67: in Chico; O: in dbSNP rsrs35939489</li><li>V->A at 68: in Sydney; unstable: in dbSNP rsrs33918343</li><li>V->D at 68: in Bristol</li><li>V->G at 68: in non-spherocytic haemolytic anemia; Manukau; dbSNP:rs33918343</li><li>V->M at 68: in Alesha; unstable: in dbSNP rsrs36008922</li><li>L->H at 69: in Brisbane; O: in dbSNP rsrs33972593</li><li>L->P at 69: in Mizuho; unstable: in dbSNP rsrs33972593</li><li>G->D at 70: in Rambam: in dbSNP rsrs34718174</li><li>G->R at 70: in Kenitra: in dbSNP rsrs33947415</li><li>G->S at 70: in City of Hope: in dbSNP rsrs33947415</li><li>A->D at 71: in Seattle; O: in dbSNP rsrs33946401</li><li>F->S at 72: in Christchurch; unstable: in dbSNP rsrs34362537</li><li>D->G at 74: in Tilburg; O: in dbSNP rsrs33976006</li><li>D->V at 74: in Mobile; O: in dbSNP rsrs33976006</li><li>D->Y at 74: in Vancouver; O: in dbSNP rsrs33945705</li><li>G->R at 75: in Aalborg; unstable: in dbSNP rsrs33916541</li><li>G->V at 75: in Bushwick; unstable: in dbSNP rsrs33976006</li><li>L->P at 76: in Atlanta; unstable: in dbSNP rsrs33950542</li><li>L->R at 76: in Pasadena; O: in dbSNP rsrs33950542</li><li>A->D at 77: in J-Chicago</li><li>H->D at 78: in J-Iran: in dbSNP rsrs33991294</li><li>H->R at 78: in Costa Rica: in dbSNP rsrs33952543</li><li>H->Y at 78: in Fukuyama: in dbSNP rsrs33991294</li><li>L->R at 79: in Quin-hai: in dbSNP rsrs34870172</li><li>D->Y at 80: in Tampa: in dbSNP rsrs33990858</li><li>N->K at 81: in G-Szuhu/Gifu: in dbSNP rsrs35890380</li><li>L->H at 82: in La Roche-sur-Yon; unstable and O: in dbSNP rsrs33936967</li><li>L->R at 82: in Baylor; unstable: in dbSNP rsrs33936967</li><li>L->V at 82: in dbSNP:rs11549406</li><li>K->M at 83: in Helsinki; O: in dbSNP rsrs33987903</li><li>K->N at 83: in Providence: in dbSNP rsrs33991993</li><li>G->D at 84: in Pyrgos: in dbSNP rsrs1803195</li><li>G->R at 84: in Muskegon: in dbSNP rsrs33930385</li><li>T->I at 85: in Kofu: in dbSNP rsrs35914488</li><li>A->D at 87: in Olomouc; O: in dbSNP rsrs35819837</li><li>T->I at 88: in Quebec-Chori: in dbSNP rsrs33993568</li><li>T->K at 88: in D-Ibadan: in dbSNP rsrs33993568</li><li>T->P at 88: in Valletta: in dbSNP rsrs35553496</li><li>L->P at 89: in Santa Ana; unstable: in dbSNP rsrs33940204</li><li>L->R at 89: in Boras; unstable: in dbSNP rsrs33940204</li><li>S->N at 90: in Creteil; O: in dbSNP rsrs33917628</li><li>S->R at 90: in Vanderbilt; O: in dbSNP rsrs35351128</li><li>E->D at 91: in Pierre-Benite; O: in dbSNP rsrs35002698</li><li>E->K at 91: in Agenogi; O: in dbSNP rsrs33913712</li><li>L->P at 92: in Sabine; unstable: in dbSNP rsrs33917785</li><li>L->R at 92: in Caribbean; O: in dbSNP rsrs33917785</li><li>H->D at 93: in J-Altgelds Gardens; unstable: in dbSNP rsrs33924775</li><li>H->N at 93: in Isehara; unstable: in dbSNP rsrs33924775</li><li>H->P at 93: in Newcastle and Duino; associated with S-104 in Duino; unstable: in dbSNP rsrs33974325</li><li>H->Q at 93: in Istambul; O: in dbSNP rsrs34083951</li><li>C->R at 94: in Okazaki; O: in dbSNP rsrs33972927</li><li>D->G at 95: in Chandigarh</li><li>D->H at 95: in Barcelona; O: in dbSNP rsrs33959340</li><li>D->N at 95: in Bunbury; O: in dbSNP rsrs33959340</li><li>K->M at 96: in J-Cordoba: in dbSNP rsrs35204496</li><li>K->N at 96: in Detroit</li><li>L->P at 97: in Debrousse; unstable; O: in dbSNP rsrs36081208</li><li>L->V at 97: in Regina; O: in dbSNP rsrs34665886</li><li>H->L at 98: in Wood; O: in dbSNP rsrs33951978</li><li>H->P at 98: in Nagoya; O: in dbSNP rsrs33951978</li><li>H->Q at 98: in Malmoe; O: in dbSNP rsrs34515413</li><li>H->Y at 98: in Moriguchi: in dbSNP rsrs33950993</li><li>V->G at 99: in Nottingham; unstable: in dbSNP rsrs33985510</li><li>D->E at 100: in Coimbra; O: in dbSNP rsrs34013622</li><li>P->L at 101: in Brigham; O: in dbSNP rsrs33965000</li><li>P->R at 101: in New Mexico: in dbSNP rsrs33965000</li><li>E->D at 102: in Potomac; O: in dbSNP rsrs35209591</li><li>E->G at 102: in Alberta; O: in dbSNP rsrs33937393</li><li>E->K at 102: in British Columbia; O: in dbSNP rsrs33966487</li><li>E->Q at 102: in Rush; unstable: in dbSNP rsrs33966487</li><li>N->S at 103: in Beth Israel; O: in dbSNP rsrs33948057</li><li>N->Y at 103: in St Mande; O: in dbSNP rsrs33927739</li><li>F->L at 104: in Heathrow; O: in dbSNP rsrs35067717</li><li>R->S at 105: in Camperdown and Duino; associated with P-92 in Duino; unstable: in dbSNP rsrs33914944</li><li>R->T at 105: in Sherwood Forest: in dbSNP rsrs33911434</li><li>G->R at 108: in Burke; O</li><li>N->K at 109: in Presbyterian; O: in dbSNP rsrs34933751</li><li>V->M at 110: in San Diego; O: in dbSNP rsrs33969677</li><li>L->P at 111: in Showa-Yakushiji: in dbSNP rsrs35256489</li><li>V->A at 112: in Stanmore; O: in dbSNP rsrs35871407</li><li>C->F at 113: in Canterbury: in dbSNP rsrs33932908</li><li>C->R at 113: in Indianapolis</li><li>C->Y at 113: in Yahata: in dbSNP rsrs33932908</li><li>L->M at 115: in Zengcheng: in dbSNP rsrs33917394</li><li>L->P at 115: in Durham-N.C./Brescia; causes beta-thalassemia</li><li>A->D at 116: in Hradec Kralove; unstable; causes severe beta-thalassemia: in dbSNP rsrs35485099</li><li>A->P at 116: in Madrid; unstable: in dbSNP rsrs34945623</li><li>H->L at 117: in Vexin; increased oxygen affinity</li><li>H->Q at 117: in Hafnia: in dbSNP rsrs35209776</li><li>H->P at 118: in Saitama; unstable: in dbSNP rsrs33935673</li><li>H->R at 118: in P-Galveston: in dbSNP rsrs33935673</li><li>H->Y at 118: in Tsukumi: in dbSNP rsrs33935527</li><li>G->A at 120: in Iowa: in dbSNP rsrs33947020</li><li>K->E at 121: in Hijiyama: in dbSNP rsrs33924134</li><li>K->I at 121: in Jianghua: in dbSNP rsrs34303736</li><li>K->Q at 121: in Takamatsu: in dbSNP rsrs33924134</li><li>E->A at 122: in D-Neath: in dbSNP rsrs33987957</li><li>E->G at 122: in St Francis: in dbSNP rsrs33987957</li><li>E->K at 122: in O-Arab</li><li>E->Q at 122: in D-Los Angeles/D-Punjab/D-Portugal/D-Chicago/D-Oak Ridge</li><li>E->V at 122: in D-Camperdown/Beograd: in dbSNP rsrs33987957</li><li>T->I at 124: in Villejuif; asymptomatic variant: in dbSNP rsrs33935383</li><li>P->Q at 125: in Ty Gard; O: in dbSNP rsrs33983276</li><li>P->R at 125: in Khartoum; unstable: in dbSNP rsrs33983276</li><li>P->S at 125: in Tunis: in dbSNP rsrs35461710</li><li>V->A at 127: in Beirut: in dbSNP rsrs33925391</li><li>V->E at 127: in Hofu; unstable: in dbSNP rsrs33925391</li><li>V->G at 127: in Dhonburi/Neapolis; unstable; beta-thalassemia: in dbSNP rsrs33925391</li><li>Q->E at 128: in Complutense: in dbSNP rsrs33971634</li><li>Q->K at 128: in Brest; unstable: in dbSNP rsrs33971634</li><li>A->D at 129: in J-Guantanamo; unstable: in dbSNP rsrs33957286</li><li>A->P at 130: in Crete; O</li><li>A->V at 130: in La Desirade; O: in dbSNP rsrs33942582</li><li>Y->D at 131: in Wien; unstable: in dbSNP rsrs35834416</li><li>Y->S at 131: in Nevers: in dbSNP rsrs33937535</li><li>Q->E at 132: in Camden/Tokuchi/Motown: in dbSNP rsrs33910209</li><li>Q->K at 132: in Shelby/Leslie/Deaconess; unstable: in dbSNP rsrs33910209</li><li>Q->P at 132: in Shangai; unstable: in dbSNP rsrs33950778</li><li>Q->R at 132: in Sarrebourg; unstable: in dbSNP rsrs33950778</li><li>K->N at 133: in Yamagata; O: in dbSNP rsrs33946775</li><li>K->Q at 133: in K-Woolwich</li><li>V->L at 134: in Extredemura: in dbSNP rsrs34095019</li><li>V->E at 135: in North Shore-Caracas; unstable: in dbSNP rsrs33966761</li><li>A->E at 136: in Beckman; O</li><li>A->P at 136: in Altdorf; O: in dbSNP rsrs35492035</li><li>G->D at 137: in Hope; O: in dbSNP rsrs33949486</li><li>A->P at 139: in Brockton; unstable: in dbSNP rsrs33919821</li><li>N->D at 140: in Geelong; unstable</li><li>N->K at 140: in Hinsdale; O: in dbSNP rsrs34240441</li><li>N->S at 140: in S-Wake; associated with V-6</li><li>N->Y at 140: in Aurora; O</li><li>A->D at 141: in Himeji; unstable; O: in dbSNP rsrs33927093</li><li>A->T at 141: in St Jacques: O: in dbSNP rsrs34980264</li><li>A->V at 141: in Puttelange; polycythemia; O: in dbSNP rsrs33927093</li><li>L->R at 142: in Olmsted; unstable: in dbSNP rsrs35854892</li><li>A->D at 143: in Ohio; O: in dbSNP rsrs33921821</li><li>H->D at 144: in Rancho Mirage: in dbSNP rsrs33929415</li><li>H->P at 144: in Syracuse; O: in dbSNP rsrs33918338</li><li>H->Q at 144: in Little Rock; O: in dbSNP rsrs36020563</li><li>H->R at 144: in Abruzzo; O: in dbSNP rsrs33918338</li><li>K->E at 145: in Mito; O</li><li>Y->C at 146: in Rainier; O</li><li>Y->H at 146: in Bethesda; O: in dbSNP rsrs33949869</li><li>H->D at 147: in Hiroshima; O: in dbSNP rsrs33961444</li><li>H->L at 147: in Cowtown; O: in dbSNP rsrs33954264</li><li>H->P at 147: in York; O: in dbSNP rsrs33954264</li><li>H->Q at 147: in Kodaira; O: in dbSNP rsrs33985739</li>							<li>Q9XTN2</li><li>Q9W0K7</li>		<li>rs33991993</li><li>rs35854892</li><li>rs33985739</li><li>rs33959855</li><li>rs33972975</li><li>rs33918338</li><li>rs35553496</li><li>rs11549407</li><li>rs33948057</li><li>rs11549406</li><li>rs34083951</li><li>rs33948578</li><li>rs33950542</li><li>rs33935383</li><li>rs35303218</li><li>rs34362537</li><li>rs33959340</li><li>rs33932908</li><li>rs33950778</li><li>rs33993568</li><li>rs34948328</li><li>rs33929415</li><li>rs33971634</li><li>rs33918343</li><li>rs35140348</li><li>rs33972593</li><li>rs33950993</li><li>rs33917628</li><li>rs35094013</li><li>rs33913712</li><li>rs35939489</li><li>rs33986703</li><li>rs33954264</li><li>rs35802118</li><li>rs35353749</li><li>rs36008922</li><li>rs33969400</li><li>rs34515413</li><li>rs33918131</li><li>rs33917394</li><li>rs33948615</li><li>rs33935983</li><li>rs33932070</li><li>rs34980264</li><li>rs33931779</li><li>rs34718174</li><li>rs34870172</li><li>rs33927739</li><li>rs33961886</li><li>rs34933455</li><li>rs34037627</li><li>rs33945705</li><li>rs35685286</li><li>rs33985510</li><li>rs34665886</li><li>rs35914488</li><li>rs33947415</li><li>rs33952543</li><li>rs34095019</li><li>rs33961444</li><li>rs33949930</li><li>rs33966761</li><li>rs33962676</li><li>rs34446260</li><li>rs33991059</li><li>rs34240441</li><li>rs1803195</li><li>rs33925391</li><li>rs33911434</li><li>rs33926764</li><li>rs33957286</li><li>rs33916412</li><li>rs33974325</li><li>rs35256489</li><li>rs63750840</li><li>rs34945623</li><li>rs34769005</li><li>rs33977536</li><li>rs35461710</li><li>rs36006214</li><li>rs36020563</li><li>rs35890380</li><li>rs34868397</li><li>rs1135101</li><li>rs34404985</li><li>rs34303736</li><li>rs1141387</li><li>rs33930385</li><li>rs34013622</li><li>rs34387455</li><li>rs33936967</li><li>rs33929459</li><li>rs33978338</li><li>rs35351128</li><li>rs35973315</li><li>rs33954632</li><li>rs33910209</li><li>rs34866629</li><li>rs33949869</li><li>rs33921821</li><li>rs33922873</li><li>rs33935445</li><li>rs33946775</li><li>rs33987957</li><li>rs35485099</li><li>rs33987903</li><li>rs35209591</li><li>rs63751285</li><li>rs35834416</li><li>rs33991472</li><li>rs35492035</li><li>rs33942582</li><li>rs1135071</li><li>rs33919821</li><li>rs35204496</li><li>rs33919924</li><li>rs33969727</li><li>rs33946401</li><li>rs33976006</li><li>rs33937535</li><li>rs334</li><li>rs35209776</li><li>rs33932548</li><li>rs33914944</li><li>rs35819837</li><li>rs35871407</li><li>rs33937393</li><li>rs34933751</li><li>rs33960931</li><li>rs33969677</li><li>rs33991294</li><li>rs35278874</li><li>rs33947020</li><li>rs35002698</li><li>rs33980484</li><li>rs33949486</li><li>rs33924775</li><li>rs33950093</li><li>rs33966487</li><li>rs33993004</li><li>rs33936254</li><li>rs34314652</li><li>rs35474880</li><li>rs33916541</li><li>rs33972927</li><li>rs35067717</li><li>rs35424040</li><li>rs33990858</li><li>rs713040</li><li>rs35747961</li><li>rs33926796</li><li>rs33983205</li><li>rs33972047</li><li>rs33952850</li><li>rs33965000</li><li>rs33947457</li><li>rs34974709</li><li>rs33995148</li><li>rs33927093</li><li>rs33945546</li><li>rs33951978</li><li>rs33994623</li><li>rs33917785</li><li>rs35890959</li><li>rs33935527</li><li>rs33920173</li><li>rs33930165</li><li>rs33983276</li><li>rs33940204</li><li>rs35906307</li><li>rs35203747</li><li>rs34703513</li><li>rs34378160</li><li>rs34151786</li><li>rs35857380</li><li>rs36081208</li><li>rs33935673</li><li>rs33974228</li><li>rs33924134</li>	2
P69891			<li>H->Q at 3: in Macedonia-I</li><li>E->K at 6: in Texas-1</li><li>E->G at 7: in Izumi/Kotobuki</li><li>E->Q at 7: in Pordenone</li><li>T->R at 13: in Calluna</li><li>D->G at 23: in Kuala Lumpur</li><li>G->R at 26: in Xinjiang; unstable</li><li>P->R at 37: in Pendergrass</li><li>W->G at 38: in Cobb</li><li>Q->R at 40: in Bonaire</li><li>R->K at 41: in Woodstock</li><li>D->N at 44: in Fukuyama</li><li>A->D at 54: in Beech island</li><li>K->E at 62: in Jamaica</li><li>G->R at 73: in Iwata</li><li>D->H at 74: in Xin-su</li><li>D->N at 74: in Forest Park; associated with T-76</li><li>I->T at 76: in Sardinia/Forest Park; associated with N-74; dbSNP:rs1061234</li><li>D->N at 80: in Dammam</li><li>D->N at 81: in Yamaguchi</li><li>D->Y at 81: in Victoria jubilee</li><li>H->R at 98: in Dickinson</li><li>E->K at 122: in Siena/Hull</li><li>A->T at 129: in Baskent</li><li>V->M at 135: in Jiangsu</li>										2
P69892	3048		<li>G->C at 2: in Malaysia</li><li>E->G at 6: in Meinohama</li><li>D->N at 8: in Auckland</li><li>K->E at 9: in Albaicin</li><li>K->Q at 9: in Albaicin</li><li>T->R at 13: in Heather</li><li>W->R at 16: in Catalonia</li><li>G->R at 17: in Melbourne</li><li>K->N at 18: in Clamart</li><li>N->K at 20: in Ouled Rabah</li><li>V->A at 21: in Bron</li><li>E->K at 22: in Saskatoon</li><li>E->Q at 22: in Fuchu</li><li>D->G at 23: in Urumqi</li><li>D->V at 23: in Granada</li><li>G->E at 26: in Cosenza</li><li>E->K at 27: in Oakland</li><li>V->I at 35: in Tokyo</li><li>T->P at 39: in Bonheiden; causes severe hereditary haemolytic anaemia</li><li>R->G at 41: in Veleta</li><li>R->K at 41: in Austell</li><li>F->S at 42: in Cincinnati</li><li>S->R at 45: in Lodz</li><li>M->R at 56: in Kingston</li><li>K->E at 60: in Emirates</li><li>K->Q at 60: in Sacromonte</li><li>H->L at 64: in M-Circleville</li><li>H->Y at 64: in Osaka; it causes cyanosis</li><li>K->N at 66: in Clarke</li><li>K->Q at 67: in Brooklyn</li><li>K->R at 67: in Shanghai</li><li>G->R at 73: in Minoo</li><li>I->T at 76: in LesVos/Waynesboro/Charlotte; dbSNP:rs1061234</li><li>I->V at 76: in Coigneres</li><li>H->R at 78: in Kennestone</li><li>D->N at 81: in Marietta</li><li>H->Y at 93: in Fort Ripley; it causes cyanosis: in dbSNP rsrs35103459</li><li>D->N at 95: in Columbus-Ga</li><li>E->K at 102: in La Grange</li><li>K->N at 105: in Macedonia-II</li><li>H->R at 118: in Malta-1</li><li>F->L at 119: in Calabria</li><li>K->Q at 121: in Caltech: in dbSNP rsrs34703519</li><li>E->K at 122: in Carlton</li><li>E->A at 126: in Port-Royal</li><li>W->G at 131: in Poole; unstable</li><li>H->Y at 147: in Onoda; O: in dbSNP rsrs34807671</li>									<li>rs35103459</li><li>rs34807671</li><li>rs34703519</li>	2
P69905	3039		<li>V->E at 2: in Thionville; O</li><li>L->R at 3: in ChongQing; O: in dbSNP rsrs36030576</li><li>A->D at 6: in J-Toronto</li><li>A->P at 6: in Karachi</li><li>D->A at 7: in Sawara; O</li><li>D->G at 7: in Swan River</li><li>D->N at 7: in Dunn; O</li><li>D->V at 7: in Ferndown; O</li><li>D->Y at 7: in Woodville; O</li><li>K->E at 8: in Kurosaki</li><li>N->T at 10: in Broomfield</li><li>V->F at 11: in dbSNP:rs1799896</li><li>K->E at 12: in Anantharaj</li><li>A->D at 13: in J-Paris 1/J-Aljezur</li><li>A->P at 14: in Ravenscourt Park; causes alpha-thalassemia</li><li>W->R at 15: in Evanston; O</li><li>G->R at 16: in Ottawa/Siam</li><li>K->M at 17: in Harbin; slightly unstable</li><li>K->N at 17: in Beijing</li><li>G->D at 19: in Al-Ain Abu Dhabi</li><li>G->R at 19: in Handsworth</li><li>A->D at 20: in J-Kurosh</li><li>A->E at 20: in J-Tashikuergan</li><li>H->Q at 21: in Le Lamentin</li><li>H->R at 21: in Hobart</li><li>A->D at 22: in J-Nyanza</li><li>A->P at 22: in Fontainebleau</li><li>G->D at 23: in J-Medellin</li><li>E->G at 24: in Reims; slightly unstable</li><li>E->K at 24: in Chad</li><li>Y->H at 25: in Luxembourg; unstable</li><li>A->E at 27: in Shenyang; unstable</li><li>A->V at 27: in Campinas</li><li>E->D at 28: in Hekinan</li><li>E->G at 28: in Fort Worth</li><li>E->V at 28: in Spanish town</li><li>E->K at 31: in O-Padova</li><li>R->K at 32: causes alpha-thalassemia</li><li>R->S at 32: in Prato; unstable</li><li>L->R at 35: in Queens/Ogi</li><li>P->PE at 38: in Catonsville</li><li>P->R at 38: in Bourmedes</li><li>K->M at 41: in Kanagawa; O</li><li>T->S at 42: in Miyano; O</li><li>F->L at 44: in Hirosaki; unstable</li><li>P->L at 45: in Milledgeville; O</li><li>P->R at 45: in Kawachi; O</li><li>H->Q at 46: in Bari</li><li>H->R at 46: in Fort de France; O</li><li>D->A at 48: in Cordele; unstable</li><li>D->G at 48: in Umi/Michigan; unstable</li><li>D->H at 48: in Hasharon/Sinai; unstable</li><li>D->Y at 48: in Kurdistan</li><li>L->R at 49: in Montgomery</li><li>S->R at 50: in Savaria</li><li>H->R at 51: in Aichi; slightly unstable</li><li>G->D at 52: in J-Abidjan</li><li>G->R at 52: in Russ</li><li>A->D at 54: in J-Rovigo; unstable</li><li>Q->R at 55: in Hikoshima/Shimonoseki</li><li>K->R at 57: in Port Huron</li><li>K->T at 57: in Thailand</li><li>G->R at 58: in L-Persian Gulf</li><li>H->Q at 59: in Boghe</li><li>H->Y at 59: in M-Boston/M-Osaka; O</li><li>G->D at 60: in Adana; unstable; causes alpha-thalassemia; dbSNP:rs28928878</li><li>G->V at 60: in Tottori; unstable</li><li>K->N at 61: in Zambia; dbSNP:rs28928887</li><li>Missing  at 61: in Clinic; unstable; causes alpha-thalassemia</li><li>K->N at 62: in J-Buda</li><li>K->T at 62: in J-Anatolia</li><li>V->M at 63: in Evans; unstable</li><li>A->D at 64: in Pontoise; unstable</li><li>D->Y at 65: in Persepolis</li><li>N->K at 69: in G-Philadelphia; dbSNP:rs1060339</li><li>A->E at 72: in J-Habana</li><li>A->V at 72: in Ozieri</li><li>H->R at 73: in Daneskgah-Teheran</li><li>D->A at 75: in Lille</li><li>D->G at 75: in Chapel Hill</li><li>D->N at 75: in G-Pest</li><li>D->A at 76: in Duan</li><li>D->H at 76: in Q-Iran</li><li>M->K at 77: in Noko</li><li>M->T at 77: in Aztec</li><li>P->R at 78: in Guizhou</li><li>N->H at 79: in Davenport</li><li>N->K at 79: in Stanleyville-2</li><li>A->G at 80: in Singapore</li><li>L->R at 81: in Ann Arbor; unstable</li><li>S->C at 82: in Nigeria</li><li>A->D at 83: in Garden State</li><li>S->R at 85: in Etobicoke; O: in dbSNP rsrs63750023</li><li>D->V at 86: in Inkster; O</li><li>D->Y at 86: in Atago; O: in dbSNP rsrs63750958</li><li>L->R at 87: in Moabit; unstable</li><li>H->N at 88: in Auckland; unstable</li><li>H->R at 88: in Iwata; unstable</li><li>A->S at 89: in Loire; O</li><li>K->M at 91: in Handa; O</li><li>L->F at 92: in dbSNP:rs17407508</li><li>L->P at 92: in Port Phillip; unstable; dbSNP:rs17407508</li><li>R->Q at 93: in J-Cape Town; O</li><li>R->W at 93: in Cemenelum; O</li><li>D->A at 95: in Bassett; markedly reduced oxygen affinity</li><li>D->Y at 95: in Setif; unstable</li><li>P->A at 96: in Denmark Hill; O</li><li>P->T at 96: in Godavari; O</li><li>N->K at 98: in Dallas; O</li><li>K->E at 100: in Turriff</li><li>S->R at 103: in Manitoba; slightly unstable; dbSNP:rs41344646: in dbSNP rsrs34098449</li><li>H->R at 104: in Contaldo; unstable: in dbSNP rsrs35329201</li><li>H->Y at 104: in Charolles: in dbSNP rsrs28928884</li><li>L->R at 110: in Suan-Dok; unstable; causes alpha-thalassemia</li><li>A->D at 111: in Petah Tikva; unstable; causes alpha-thalassemia: in dbSNP rsrs63749948</li><li>H->D at 113: in Hopkins-II; unstable: in dbSNP rsrs63749881</li><li>L->H at 114: in Twin Peaks: in dbSNP rsrs63751116</li><li>P->L at 115: in Nouakchott: in dbSNP rsrs63750388</li><li>P->R at 115: in Chiapas: in dbSNP rsrs63750388</li><li>P->S at 115: in Melusine: in dbSNP rsrs63751114</li><li>A->D at 116: in J-Tongariki: in dbSNP rsrs63750290</li><li>E->A at 117: in Ube-4: in dbSNP rsrs63750606</li><li>E->EHLPAE at 117: in Zaire</li><li>F->FI at 118: in Phnom Penh</li><li>T->TEFT at 119: in Grady</li><li>A->E at 121: in J-Meerut/J-Birmingham: in dbSNP rsrs63749927</li><li>V->M at 122: in Owari: in dbSNP rsrs63751008</li><li>H->Q at 123: in Westmead</li><li>L->P at 126: in Quong Sze; causes alpha-thalassemia</li><li>L->R at 126: in Plasencia; family with moderate microcytosis and hypochromia</li><li>D->G at 127: in West One: in dbSNP rsrs63750467</li><li>D->V at 127: in Fukutomi; O: in dbSNP rsrs63750467</li><li>D->Y at 127: in Monteriore; O: in dbSNP rsrs63750950</li><li>K->N at 128: in Jackson</li><li>L->P at 130: in Tunis-Bizerte; unstable; causes alpha-thalassemia</li><li>A->D at 131: in Yuda; O</li><li>A->P at 131: in Sun Prairie; unstable</li><li>S->P at 132: in Questembert; highly unstable; causes alpha-thalassemia: in dbSNP rsrs35974739</li><li>S->R at 134: in Val de Marne; O: in dbSNP rsrs56308100,rs55948437</li><li>V->E at 136: in Pavie: in dbSNP rsrs35994191</li><li>L->M at 137: in Chicago</li><li>L->P at 137: in Bibba; unstable; causes alpha-thalassemia</li><li>L->R at 137: in Toyama: in dbSNP rsrs34635364</li><li>S->P at 139: in Attleboro; O: in dbSNP rsrs34011123</li><li>K->E at 140: in Hanamaki; O: in dbSNP rsrs33973086</li><li>K->T at 140: in Tokoname; O: in dbSNP rsrs34849179</li><li>Y->H at 141: in Rouen/Ethiopia; O: in dbSNP rsrs35723200</li><li>R->C at 142: in Nunobiki; O: in dbSNP rsrs33991910</li><li>R->H at 142: in Suresnes; O: in dbSNP rsrs33935328</li><li>R->L at 142: in Legnano; O: in dbSNP rsrs33935328</li><li>R->P at 142: in Singapore: in dbSNP rsrs33935328</li>							P97465		<li>rs63750290</li><li>rs34011123</li><li>rs28928884</li><li>rs55948437</li><li>rs63749948</li><li>rs56308100</li><li>rs35723200</li><li>rs63751114</li><li>rs63749881</li><li>rs35994191</li><li>rs34635364</li><li>rs63750388</li><li>rs63751008</li><li>rs63750950</li><li>rs63750606</li><li>rs63750467</li><li>rs1799896</li><li>rs63750958</li><li>rs33935328</li><li>rs34849179</li><li>rs35974739</li><li>rs33973086</li><li>rs63751116</li><li>rs17407508</li><li>rs63750023</li><li>rs63749927</li><li>rs35329201</li><li>rs36030576</li><li>rs34098449</li><li>rs33991910</li>	2
P78312	8603		<li>M->V at 192: in dbSNP:rs17164077</li>									rs17164077	2
P78314	6452		<li>R->P at 415: in CRBM, MIM: 118400</li><li>R->Q at 415: in CRBM, MIM: 118400</li><li>P->H at 418: in CRBM, MIM: 118400</li><li>P->L at 418: in CRBM, MIM: 118400</li><li>P->R at 418: in CRBM, MIM: 118400</li><li>G->E at 420: in CRBM: in dbSNP rsrs28938171, MIM: 118400</li><li>G->R at 420: in CRBM: in dbSNP rsrs28938170, MIM: 118400</li>								Cherubism (CRBM) [MIM:118400]	<li>rs28938170</li><li>rs28938171</li>	2
P78316	8602		<li>L->S at 380: in dbSNP:rs2515960</li>									rs2515960	2
P78318	3476		<li>R->K at 20: in dbSNP:rs6625580</li>									rs6625580	2
P78324	140885		<li>PA->RS at 6-7</li><li>A->P at 20</li><li>D->E at 40</li><li>S->L at 44: in dbSNP rsrs1135193</li><li>S->T at 50: in dbSNP rsrs17855609</li><li>I->A at 52: requires 2 nucleotide substitutions</li><li>I->T at 52: in dbSNP rsrs17855610</li><li>H->E at 54: requires 2 nucleotide substitutions</li><li>H->R at 54: in dbSNP rsrs17855611</li><li>V->A at 57: in dbSNP rsrs17855612</li><li>I->N at 61</li><li>W->R at 68</li><li>A->G at 75: in dbSNP:rs1057114</li><li>E->K at 77</li><li>N->H at 81</li><li>E->D at 95</li><li>S->L at 96</li><li>E->N at 100: requires 2 nucleotide substitutions</li><li>E->T at 100: requires 2 nucleotide substitutions</li><li>S->C at 107</li><li>S->R at 107: in dbSNP rsrs17855615</li><li>S->G at 109: in dbSNP rsrs17855616</li><li>R->Q at 125</li><li>T->V at 131: requires 2 nucleotide substitutions</li><li>F->L at 133</li><li>Q->D at 162: requires 2 nucleotide substitutions</li><li>T->S at 180</li><li>E->Q at 189</li><li>VG->AR at 200-201</li><li>K->N at 213</li><li>E->G at 219</li><li>V->I at 221</li><li>Q->R at 235</li><li>PL->SF at 238-239</li><li>R->Q at 250</li><li>Q->L at 260</li><li>V->M at 262</li><li>V->I at 270</li><li>R->T at 275</li><li>V->L at 301: in dbSNP:rs2422666</li><li>P->S at 338</li><li>P->L at 352</li><li>G->S at 356</li><li>S->P at 366</li><li>R->Q at 369</li><li>A->E at 388</li><li>Q->R at 442</li><li>P->L at 459</li><li>A->L at 485: requires 2 nucleotide substitutions</li><li>P->L at 490</li>									<li>rs17855611</li><li>rs2422666</li><li>rs1057114</li><li>rs17855610</li><li>rs17855612</li><li>rs17855615</li><li>rs17855616</li><li>rs1135193</li><li>rs17855609</li>	2
P78329	8529		<li>S->Y at 7: in dbSNP:rs3093104</li><li>W->G at 12: in dbSNP:rs3093105</li><li>G->V at 185: in dbSNP:rs3093153</li><li>A->D at 269: in dbSNP:rs1805040</li><li>V->M at 433: in dbSNP:rs2108622</li><li>L->M at 519: in dbSNP:rs3093200</li>									<li>rs3093105</li><li>rs3093104</li><li>rs3093153</li><li>rs3093200</li><li>rs2108622</li><li>rs1805040</li>	2
P78330	5723		<li>D->N at 32: in PSPHD: in dbSNP rsrs28933976, MIM: 172480</li><li>M->T at 52: in PSPHD, MIM: 172480</li>								3-phosphoserine phosphatase deficiency [MIM:172480]	rs28933976	2
P78332	10180		<li>S->F at 353: in NSCLC</li><li>N->T at 721: in dbSNP:rs34707170</li>									rs34707170	2
P78333	2262		<li>A->V at 155: in dbSNP:rs553717</li>									rs553717	2
P78334	2564		<li>S->A at 102: in dbSNP:rs1139916</li>									rs1139916	2
P78337	5307		<li>G->A at 299: in dbSNP:rs479632</li>									rs479632	2
P78344	1982		<li>L->M at 236: in dbSNP:rs34885591</li>									rs34885591	2
P78345	10557		<li>I->V at 86: in dbSNP:rs3814171</li><li>E->D at 88: in dbSNP:rs1052157</li><li>A->V at 114: in dbSNP:rs1132078</li><li>A->G at 181: in dbSNP:rs15772</li><li>S->R at 202: in dbSNP:rs12249258</li><li>I->T at 212: in dbSNP:rs10242</li><li>R->G at 250: in dbSNP:rs34040166</li>									<li>rs1052157</li><li>rs34040166</li><li>rs1132078</li><li>rs3814171</li><li>rs10242</li><li>rs15772</li><li>rs12249258</li>	2
P78346	10556		<li>G->D at 12: in dbSNP:rs11544145</li>									rs11544145	2
P78357	8506		<li>V->L at 522: in dbSNP:rs35437096</li>									rs35437096	2
P78362	6733		<li>P->L at 43: in dbSNP rsrs34699980</li><li>G->D at 243: in a glioblastoma multiforme sample; somatic mutation</li><li>T->P at 426: in dbSNP rsrs55743527</li><li>S->F at 486: in dbSNP rsrs56112661</li><li>P->T at 515: in dbSNP rsrs56017595</li>									<li>rs56017595</li><li>rs34699980</li><li>rs56112661</li><li>rs55743527</li>	2
P78368	1455		<li>F->L at 189: in dbSNP rsrs55702630</li><li>E->G at 194: in dbSNP rsrs55780547</li><li>I->T at 196: in dbSNP rsrs55923222</li><li>Y->C at 206: in dbSNP rsrs56264133</li><li>Y->H at 206: in dbSNP rsrs56108438</li><li>R->S at 207: in dbSNP rsrs56340103</li><li>E->Q at 208: in dbSNP rsrs55818316</li><li>R->C at 217: in dbSNP rsrs55754218</li><li>T->M at 223: in dbSNP rsrs56038081</li>									<li>rs56340103</li><li>rs55923222</li><li>rs55702630</li><li>rs56038081</li><li>rs55818316</li><li>rs56108438</li><li>rs55780547</li><li>rs56264133</li><li>rs55754218</li>	2
P78381	7355		<li>W->C at 252: in a breast cancer sample; somatic mutation</li>										2
P78383	10237		<li>R->H at 81: in dbSNP:rs1135034</li>									rs1135034	2
P78385	3889		<li>R->C at 149: in dbSNP:rs2857663</li><li>I->M at 279: in dbSNP:rs2852464</li><li>E->K at 407: in Monilethrix, MIM: 158000</li><li>H->Y at 493: in dbSNP:rs2857671, MIM: 158000</li>								Monilethrix [MIM:158000]	<li>rs2857671</li><li>rs2852464</li><li>rs2857663</li>	2
P78386	3891		<li>R->H at 78: in EDPHN: in dbSNP rsrs61630004, MIM: 602032</li><li>W->L at 155: in dbSNP:rs2852471, MIM: 602032</li>								Ectodermal dysplasia pure hair-nail type (EDPHN) [MIM:602032]	<li>rs2852471</li><li>rs61630004</li>	2
P78395	23532		<li>W->R at 7: in dbSNP:rs2266988</li>									rs2266988	2
P78410	11118		<li>R->T at 167: in dbSNP:rs9379861</li><li>N->D at 181: in dbSNP:rs9358936</li><li>A->T at 182: in dbSNP:rs12205731</li><li>R->K at 211: in dbSNP:rs35183513</li><li>S->N at 307: in dbSNP:rs13216828</li>									<li>rs35183513</li><li>rs9358936</li><li>rs13216828</li><li>rs12205731</li><li>rs9379861</li>	2
P78413	50805		<li>A->T at 119: in dbSNP:rs2232376</li>									rs2232376	2
P78417	9446		<li>S->C at 86: in dbSNP:rs11509436</li><li>A->D at 140: in allele GSTO1*C; dbSNP:rs4925</li><li>Missing  at 155: in allele GSTO1*B</li><li>E->K at 208: in dbSNP:rs11509438</li><li>A->V at 236: in dbSNP:rs11509439</li>							<li>Q9N1F5</li><li>P78417</li>		<li>rs11509438</li><li>rs11509439</li><li>rs11509436</li><li>rs4925</li>	2
P78423	6376		<li>A->V at 240: in dbSNP:rs35860084</li>									rs35860084	2
P78424	11281		<li>Q->H at 184: in WT5, MIM: 601583</li><li>P->L at 191: in dbSNP:rs2074936, MIM: 601583</li><li>L->M at 492: in dbSNP:rs4992268, MIM: 601583</li><li>E->K at 631: in dbSNP:rs7804851, MIM: 601583</li>								Hereditary susceptibility to Wilms tumor 5 (WT5) [MIM:601583]	<li>rs2074936</li><li>rs7804851</li><li>rs4992268</li>	2
P78504	182		<li>Missing  at 22-25: in ALGS1</li><li>A->V at 31: in ALGS1, MIM: 118450</li><li>G->D at 33: in ALGS1, MIM: 118450</li><li>G->S at 33: in ALGS1, MIM: 118450</li><li>G->V at 33: in ALGS1, MIM: 118450</li><li>L->S at 37: in ALGS1, MIM: 118450</li><li>I->S at 39: in ALGS1, MIM: 118450</li><li>L->P at 40: in ALGS1, MIM: 118450</li><li>V->L at 45: in biliary atresia; extrahepatic, MIM: 118450</li><li>N->D at 53: in biliary atresia; extrahepatic, MIM: 118450</li><li>K->M at 65: in biliary atresia; extrahepatic, MIM: 118450</li><li>F->S at 75: in ALGS1, MIM: 118450</li><li>C->S at 78: in ALGS1, MIM: 118450</li><li>L->H at 79: in ALGS1, MIM: 118450</li><li>C->R at 92: in ALGS1, MIM: 118450</li><li>C->Y at 92: in ALGS1, MIM: 118450</li><li>I->N at 120: in ALGS1, MIM: 118450</li><li>P->S at 123: in ALGS1, MIM: 118450</li><li>A->T at 127: in ALGS1, MIM: 118450</li><li>P->R at 129: in ALGS1, MIM: 118450</li><li>V->I at 146: in dbSNP:rs6040067, MIM: 118450</li><li>I->T at 152: in ALGS1, MIM: 118450</li><li>A->P at 155: in ALGS1, MIM: 118450</li><li>P->L at 163: in ALGS1, MIM: 118450</li><li>P->R at 163: in ALGS1, MIM: 118450</li><li>Y->N at 181: in ALGS1, MIM: 118450</li><li>R->C at 184: in ALGS1, MIM: 118450</li><li>R->G at 184: in ALGS1, MIM: 118450</li><li>R->H at 184: in ALGS1, MIM: 118450</li><li>R->L at 184: in ALGS1, MIM: 118450</li><li>C->S at 187: in ALGS1, MIM: 118450</li><li>C->Y at 187: in ALGS1, MIM: 118450</li><li>R->K at 203: in biliary atresia; extrahepatic, MIM: 118450</li><li>C->F at 220: in ALGS1, MIM: 118450</li><li>W->C at 224: in ALGS1, MIM: 118450</li><li>C->G at 229: in ALGS1, MIM: 118450</li><li>C->Y at 229: in ALGS1, MIM: 118450</li><li>C->Y at 234: in deafness; with congenital heart defects and posterior embryotoxon, MIM: 118450</li><li>R->G at 252: in ALGS1, MIM: 118450</li><li>G->S at 256: in ALGS1, MIM: 118450</li><li>P->L at 269: in ALGS1, MIM: 118450</li><li>C->R at 271: in ALGS1, MIM: 118450</li><li>G->D at 274: in TOF; temperature sensitive mutation: in dbSNP rsrs28939668, MIM: 187500</li><li>C->F at 284: in ALGS1, MIM: 118450</li><li>W->C at 288: in ALGS1, MIM: 118450</li><li>G->R at 386: in ALGS1, MIM: 118450</li><li>C->F at 438: in ALGS1, MIM: 118450</li><li>N->S at 504: in ALGS1, MIM: 118450</li><li>Y->D at 690: in biliary atresia; extrahepatic, MIM: 118450</li><li>C->Y at 693: in ALGS1, MIM: 118450</li><li>C->Y at 714: in ALGS1, MIM: 118450</li><li>C->S at 731: in ALGS1, MIM: 118450</li><li>C->R at 740: in ALGS1, MIM: 118450</li><li>C->R at 753: in ALGS1, MIM: 118450</li><li>R->K at 818, MIM: 118450</li><li>P->R at 871: in biliary atresia; extrahepatic; could be a polymorphism: in dbSNP rsrs35761929, MIM: 118450</li><li>R->Q at 889: in ALGS1, MIM: 118450</li><li>C->S at 902: in ALGS1, MIM: 118450</li><li>H->Q at 908: in biliary atresia; extrahepatic, MIM: 118450</li><li>C->Y at 911: in ALGS1, MIM: 118450</li><li>S->R at 913: in ALGS1, MIM: 118450</li><li>L->P at 921: in biliary atresia; extrahepatic, MIM: 118450</li><li>R->Q at 937: in ALGS1, MIM: 118450</li><li>VR->G at 1055-1056: in ALGS1, MIM: 118450</li><li>R->Q at 1213: in biliary atresia; extrahepatic, MIM: 118450</li>								<li>Alagille syndrome type 1 (ALGS1) [MIM:118450]</li><li>Tetralogy of Fallot (TOF) [MIM:187500]</li>	<li>rs6040067</li><li>rs28939668</li><li>rs35761929</li>	2
P78508	3766		<li>R->C at 271: in dbSNP:rs1130183</li><li>R->H at 271: in dbSNP:rs3795339</li>									<li>rs3795339</li><li>rs1130183</li>	2
P78509	5649		<li>T->A at 978: in dbSNP:rs3025962</li><li>L->V at 997: in dbSNP:rs362691</li>									<li>rs362691</li><li>rs3025962</li>	2
P78524	6764		<li>K->N at 316: in dbSNP:rs3794153</li><li>E->D at 399: in dbSNP:rs3812762</li><li>I->T at 620: in dbSNP:rs17853683</li><li>S->F at 657: in dbSNP:rs11042047</li><li>S->G at 774: in dbSNP:rs17853682</li>									<li>rs17853683</li><li>rs17853682</li><li>rs11042047</li><li>rs3794153</li><li>rs3812762</li>	2
P78536	6868		<li>K->E at 162: in dbSNP:rs34431503</li><li>R->G at 202: in dbSNP:rs2230818</li>									<li>rs34431503</li><li>rs2230818</li>	2
P78539	8406		<li>Missing at 23</li><li>P->S at 225: in dbSNP:rs1123773</li><li>S->F at 413: in dbSNP:rs35318931</li>									<li>rs1123773</li><li>rs35318931</li>	2
P78540	384		<li>G->R at 240: in dbSNP:rs17104534</li>									rs17104534	2
P78543	7832		<li>V->M at 153: in dbSNP:rs12039961</li>									rs12039961	2
P78556	6364		<li>V->M at 47: in dbSNP:rs1049617</li>									rs1049617	2
P78559			<li>F->L at 72: in dbSNP:rs2584695</li><li>A->S at 335: in dbSNP:rs1060935</li><li>K->T at 336: in dbSNP:rs1060936</li><li>A->S at 353: in dbSNP:rs1060937</li><li>A->S at 357: in dbSNP:rs1060938</li><li>K->Q at 364: in dbSNP:rs2602129</li><li>K->Q at 485: in dbSNP:rs2584715</li><li>T->A at 830: in dbSNP:rs3803337</li><li>N->S at 1078: in dbSNP:rs8034794</li><li>I->T at 1102: in dbSNP:rs8036179</li><li>R->H at 1185: in dbSNP:rs3803335</li><li>D->N at 1245: in dbSNP:rs12912505</li><li>D->N at 1461: in dbSNP:rs2245715</li><li>Q->H at 1553: in dbSNP:rs2584717</li><li>K->N at 1605: in dbSNP:rs2584697</li><li>W->C at 1650: in dbSNP:rs1060943</li><li>A->S at 1690: in dbSNP:rs1060946</li><li>P->A at 1827: in dbSNP:rs2229014</li><li>A->P at 1881: in dbSNP:rs1060950</li><li>A->V at 1912: in dbSNP:rs2584718</li><li>S->R at 1938: in dbSNP:rs2584719</li><li>S->R at 2056: in dbSNP:rs1060953</li><li>H->Y at 2214: in dbSNP:rs1060955</li><li>D->V at 2327: in dbSNP:rs8026745</li>									<li>rs2584717</li><li>rs2584718</li><li>rs2584719</li><li>rs2584715</li><li>rs8034794</li><li>rs1060938</li><li>rs1060935</li><li>rs1060936</li><li>rs1060946</li><li>rs1060937</li><li>rs8026745</li><li>rs1060955</li><li>rs3803337</li><li>rs8036179</li><li>rs2229014</li><li>rs1060953</li><li>rs3803335</li><li>rs1060943</li><li>rs1060950</li><li>rs12912505</li><li>rs2245715</li><li>rs2584695</li><li>rs2602129</li><li>rs2584697</li>	2
P78562	5251		<li>C->S at 77: in HYP, MIM: 307800</li><li>F->S at 80: in HYP; sporadic, MIM: 307800</li><li>C->F at 85: in HYP; sporadic, MIM: 307800</li><li>C->R at 85: in HYP, MIM: 307800</li><li>C->Y at 85: in HYP, MIM: 307800</li><li>L->P at 138: in HYP, MIM: 307800</li><li>S->P at 141: in HYP; sporadic, MIM: 307800</li><li>C->F at 142: in HYP, MIM: 307800</li><li>L->R at 160: in HYP, MIM: 307800</li><li>R->C at 166: in HYP, MIM: 307800</li><li>D->G at 237: in HYP; sporadic, MIM: 307800</li><li>F->S at 252: in HYP, MIM: 307800</li><li>M->I at 253: in HYP, MIM: 307800</li><li>Y->F at 317: in HYP, MIM: 307800</li><li>Missing  at 341: in HYP; sporadic, MIM: 307800</li><li>W->WN at 444: in HYP, MIM: 307800</li><li>W->C at 530: in HYP, MIM: 307800</li><li>P->L at 534: in HYP, MIM: 307800</li><li>L->P at 555: in HYP, MIM: 307800</li><li>R->P at 567: in HYP; sporadic, MIM: 307800</li><li>A->D at 573: in HYP; sporadic, MIM: 307800</li><li>G->R at 579: in HYP, MIM: 307800</li><li>G->V at 579: in HYP, MIM: 307800</li><li>Q->R at 621: in HYP, MIM: 307800</li><li>R->P at 651: in HYP, MIM: 307800</li><li>N->K at 680: in HYP; sporadic, MIM: 307800</li><li>Missing  at 680: in HYP, MIM: 307800</li><li>C->Y at 693: in HYP; sporadic, MIM: 307800</li><li>A->T at 720: in HYP, MIM: 307800</li><li>F->Y at 731: in HYP, MIM: 307800</li><li>C->S at 733: in HYP; sporadic, MIM: 307800</li><li>C->W at 746: in HYP; sporadic, MIM: 307800</li><li>W->R at 749: in HYP, MIM: 307800</li>							<li>P70669</li><li>P78562</li>	X-linked hypophosphatemic rickets (HYP) [MIM:307800]		2
P79483	3125		<li>R->C at 40: in allele DRB3*0102</li><li>G->A at 102: in dbSNP:rs17878857</li><li>V->A at 114: in dbSNP:rs17424145</li><li>V->M at 236: in dbSNP:rs2230816</li>									<li>rs17424145</li><li>rs2230816</li><li>rs17878857</li>	2
P79522	80742		<li>G->S at 61: in dbSNP:rs3888778</li>									rs3888778	2
P80075	6355		<li>A->V at 14: in dbSNP:rs35401229</li><li>K->Q at 69: in dbSNP:rs1133763</li>									<li>rs1133763</li><li>rs35401229</li>	2
P80108	2822		<li>L->V at 17: in dbSNP:rs2235501</li><li>V->I at 30: in dbSNP:rs1126617</li><li>D->E at 275: in dbSNP:rs17300770</li><li>I->V at 350: in dbSNP:rs1062496</li><li>G->S at 396: in dbSNP:rs6924628</li><li>V->M at 461: in dbSNP:rs1062505</li><li>M->V at 694: in dbSNP:rs1042303</li><li>T->I at 698: in dbSNP:rs1772256</li>									<li>rs1062505</li><li>rs6924628</li><li>rs1062496</li><li>rs1042303</li><li>rs1126617</li><li>rs1772256</li><li>rs2235501</li><li>rs17300770</li>	2
P80303	4925		<li>Q->E at 338: in dbSNP:rs757081</li><li>Missing at 402</li>									rs757081	2
P80370			<li>Missing  at 347: in clone HDLKAAG</li>										2
P80404	18		<li>Q->R at 56: in dbSNP:rs1731017</li><li>R->K at 220: in GABA-AT deficiency; 25% reduction in activity, MIM: 137150</li>							<li>P94427</li><li>P17649</li><li>P50457</li><li>P63504</li><li>P63505</li><li>P80147</li><li>P14010</li><li>P49604</li><li>Q9BGI0</li><li>O13837</li><li>P40829</li><li>P80404</li><li>P61922</li><li>P22256</li><li>P50554</li><li>Q21217</li>	GABA-AT deficiency [MIM:137150]	rs1731017	2
P80723	10409		<li>A->V at 76: in dbSNP:rs3733748</li>									rs3733748	2
P81133	6492		<li>L->F at 175: in dbSNP:rs438766</li><li>P->T at 352: in dbSNP:rs3734354</li><li>A->V at 371: in dbSNP:rs3734355</li>									<li>rs438766</li><li>rs3734355</li><li>rs3734354</li>	2
P81172	57817		<li>R->G at 59: in HFE2B, MIM: 602390</li><li>C->R at 70: in HFE2B, MIM: 602390</li><li>G->D at 71: in HFE2B, MIM: 602390</li><li>C->Y at 78: in HFE2B, MIM: 602390</li>								Hemochromatosis type 2B (HFE2B) [MIM:602390]		2
P81408			<li>S->F at 359: in a breast cancer sample; somatic mutation</li><li>R->H at 550: in dbSNP:rs2072648</li>									rs2072648	2
P82094	7110		<li>Q->E at 430: in dbSNP:rs35447207</li><li>C->Y at 448: in dbSNP:rs34428015</li><li>Q->R at 682: in dbSNP:rs3736422</li><li>D->H at 798: in dbSNP:rs1532918</li>									<li>rs1532918</li><li>rs34428015</li><li>rs3736422</li><li>rs35447207</li>	2
P82251	11136		<li>Missing  at 10: in CSNU</li><li>I->T at 44: in CSNU; type I, MIM: 220100</li><li>P->L at 52: in CSNU, MIM: 220100</li><li>G->R at 63: in CSNU, MIM: 220100</li><li>W->L at 69: in CSNU, MIM: 220100</li><li>A->V at 70: in CSNU; mild loss of amino acid transport activity, MIM: 220100</li><li>G->R at 105: in CSNU; type III; frequent mutation; severe loss of amino acid transport activity, MIM: 220100</li><li>T->M at 123: in CSNU, MIM: 220100</li><li>A->T at 126: in CSNU, MIM: 220100</li><li>V->A at 142: in dbSNP:rs12150889, MIM: 220100</li><li>A->AA at 158: in CSNU, MIM: 220100</li><li>V->M at 170: in CSNU; type III; frequent mutation; complete loss of amino acid transport activity, MIM: 220100</li><li>A->T at 182: in CSNU; type III; frequent mutation; mild loss of amino acid transport activity, MIM: 220100</li><li>I->F at 187: in CSNU, MIM: 220100</li><li>I->II at 193: in CSNU, MIM: 220100</li><li>G->R at 195: in CSNU; type III, MIM: 220100</li><li>L->M at 223: in dbSNP:rs1007160, MIM: 220100</li><li>A->V at 224: in CSNU; non-classic type I, MIM: 220100</li><li>W->R at 230: in CSNU, MIM: 220100</li><li>I->T at 241: in CSNU, MIM: 220100</li><li>Missing  at 244: in CSNU, MIM: 220100</li><li>G->R at 259: in CSNU; type III, MIM: 220100</li><li>P->L at 261: in CSNU; types I and III, MIM: 220100</li><li>V->M at 330: in CSNU; type III, MIM: 220100</li><li>A->V at 331: in CSNU; non-classic type I, MIM: 220100</li><li>R->W at 333: in CSNU; frequent mutation; severe loss of amino acid transport activity, MIM: 220100</li><li>A->T at 354: in CSNU; type III; severe loss of amino acid transport activity, MIM: 220100</li><li>S->R at 379: in CSNU, MIM: 220100</li><li>A->T at 382: in CSNU, MIM: 220100</li>	amino acid transport	GO:0006865						Non-type I cystinuria (CSNU) [MIM:220100]	<li>rs12150889</li><li>rs1007160</li>	2
P82279	23418		<li>F->V at 144: in LCA8, MIM: 604210</li><li>A->V at 161: in RP12, MIM: 600105</li><li>V->M at 162: in PPCRA, MIM: 172870</li><li>C->F at 195: in RP12, MIM: 600105</li><li>I->T at 205, MIM: 600105</li><li>C->W at 250: in RP12, MIM: 600105</li><li>T->M at 289, MIM: 600105</li><li>C->Y at 383: in LCA8, MIM: 604210</li><li>Y->C at 433: in RP12, MIM: 600105</li><li>C->G at 480: in LCA8, MIM: 604210</li><li>C->R at 480: in LCA8, MIM: 604210</li><li>V->E at 578: in RP12, MIM: 600105</li><li>D->Y at 584: in LCA8, MIM: 604210</li><li>C->Y at 587: in RP12, MIM: 600105</li><li>Q->E at 679, MIM: 600105</li><li>C->Y at 681: in LCA8, MIM: 604210</li><li>E->Q at 710: in LCA8, MIM: 604210</li><li>M->T at 741: in LCA8, MIM: 604210</li><li>T->M at 745: in RP12: in dbSNP rsrs28939720, MIM: 600105</li><li>Missing  at 749: in RP12 and LCA8, MIM: 600105</li><li>R->C at 764: in RP12 and LCA8, MIM: 600105</li><li>R->H at 769, MIM: 600105</li><li>R->Q at 769, MIM: 600105</li><li>P->T at 836: in RP12, MIM: 600105</li><li>D->H at 837: in RP12; located on the same allele as T-1354, MIM: 600105</li><li>G->R at 846: in RP12, MIM: 600105</li><li>G->S at 850: in RP12, MIM: 600105</li><li>I->T at 852: in LCA8, MIM: 604210</li><li>C->G at 891: in RP12; without preservation of the paraarteriolar retinal pigment epithelium, MIM: 600105</li><li>N->S at 894: in RP12, MIM: 600105</li><li>R->Q at 905, MIM: 600105</li><li>C->Y at 948: in RP12 and LCA8; without preservation of the paraarteriolar retinal pigment epithelium, MIM: 600105</li><li>G->S at 959: in RP12, MIM: 600105</li><li>Missing  at 962: in RP12; without preservation of the paraarteriolar retinal pigment epithelium, MIM: 600105</li><li>N->I at 986: in RP12, MIM: 600105</li><li>I->T at 989: in LCA8, MIM: 604210</li><li>S->I at 1025: in LCA8, MIM: 604210</li><li>M->T at 1041: in RP12, MIM: 600105</li><li>L->P at 1071: in RP12, MIM: 600105</li><li>I->R at 1100: in LCA8, MIM: 604210</li><li>I->T at 1100: in RP12, MIM: 600105</li><li>G->R at 1103: in LCA8, MIM: 604210</li><li>L->P at 1107: in LCA8, MIM: 604210</li><li>L->R at 1107: in LCA8, MIM: 604210</li><li>C->R at 1181: in RP12, MIM: 600105</li><li>G->R at 1205: in LCA8, MIM: 604210</li><li>C->F at 1218: in LCA8, MIM: 604210</li><li>N->H at 1317: in LCA8, MIM: 604210</li><li>C->S at 1321: in LCA8; also early onset RP without preservation of the paraarteriolar retinal pigment epithelium, MIM: 604210</li><li>R->H at 1331, MIM: 604210</li><li>A->T at 1354: in RP12; located on the same allele as H-837, MIM: 600105</li><li>R->H at 1383: in RP12, MIM: 600105</li>							P25443	<li>Retinitis pigmentosa type 12 (RP12) [MIM:600105]</li><li>Leber congenital amaurosis type 8 (LCA8) [MIM:604210]</li><li>Pigmented paravenous chorioretinal atrophy (PPCRA) [MIM:172870]</li>	rs28939720	2
P82650	56945		<li>R->H at 170: in COXPD5, MIM: 611719</li>								Combined oxidative phosphorylation deficiency type 5 (COXPD5) [MIM:611719]		2
P82673	60488		<li>L->I at 6: in dbSNP:rs35475802</li>									rs35475802	2
P82912	64963		<li>R->W at 10: in dbSNP:rs16941904</li><li>Q->H at 51: in dbSNP:rs16941907</li>									<li>rs16941904</li><li>rs16941907</li>	2
P82921	54460		<li>R->C at 50: in dbSNP:rs10480</li><li>R->Q at 51: in dbSNP:rs4845</li>									<li>rs4845</li><li>rs10480</li>	2
P82930	65993		<li>L->I at 33: in dbSNP:rs11552431</li>									rs11552431	2
P82933	64965		<li>S->L at 13: in dbSNP:rs13399067</li>									rs13399067	2
P82980	83758		<li>D->N at 19: in dbSNP:rs10963</li><li>E->Q at 70: in dbSNP:rs7969705</li><li>M->L at 115: in dbSNP:rs2290237</li>									<li>rs10963</li><li>rs2290237</li><li>rs7969705</li>	2
P82987	57188		<li>H->R at 146: in dbSNP:rs4483821</li><li>V->L at 290: in dbSNP:rs4144691</li><li>V->M at 330: in a colorectal cancer sample; somatic mutation</li><li>R->H at 587: in a colorectal cancer sample; somatic mutation</li><li>L->V at 661: in dbSNP:rs4842838</li><li>R->C at 855: in a colorectal cancer sample; somatic mutation</li><li>R->H at 855: in dbSNP:rs2277848</li><li>L->F at 869: in dbSNP:rs2277849</li><li>A->E at 1315: in a colorectal cancer sample; somatic mutation</li><li>T->A at 1370: in dbSNP:rs17158450</li><li>M->T at 1558: in dbSNP:rs7175910</li><li>T->I at 1660: in dbSNP:rs950169</li><li>R->H at 1679: in dbSNP:rs11857906</li>									<li>rs11857906</li><li>rs17158450</li><li>rs4144691</li><li>rs4842838</li><li>rs2277849</li><li>rs4483821</li><li>rs950169</li><li>rs2277848</li><li>rs7175910</li>	2
P83111	114294		<li>R->K at 469: in dbSNP:rs2729835</li>									rs2729835	2
P83436	91949		<li>T->M at 605: in dbSNP:rs16940094</li>									rs16940094	2
P83859	347148		<li>L->H at 68: in dbSNP:rs12340616</li>									rs12340616	2
P84074	3208		<li>E->D at 21: in dbSNP:rs11554958</li>									rs11554958	2
P84101	10169		<li>D->Y at 40: in dbSNP:rs11269</li>									rs11269	2
P84996	2778		<li>R->C at 201: in a colorectal cancer sample; somatic mutation: in dbSNP rsrs11554273</li><li>R->H at 201: in a colorectal cancer sample; somatic mutation</li><li>P->T at 374: in GNAS hyperfunction, MIM: 139320</li><li>P->PQPIPTPGRPLT at 375: in GNAS hyperfunction, MIM: 139320</li><li>L->V at 397: in GNAS hyperfunction, MIM: 139320</li>							<li>Q5JWF2</li><li>P84996</li><li>P63093</li><li>P63092</li><li>P29797</li><li>P63091</li><li>P16052</li><li>O18979</li><li>P04896</li><li>Q8R4A8</li><li>O95467</li>	GNAS hyperfunction [MIM:139320]	rs11554273	2
P85298	23779		<li>Y->C at 172: in dbSNP:rs16992915</li><li>G->R at 333: in dbSNP:rs6007344</li><li>P->L at 415: in dbSNP:rs2071762</li>									<li>rs6007344</li><li>rs16992915</li><li>rs2071762</li>	2
P98066	7130		<li>Q->R at 144: in dbSNP:rs1046668</li>									rs1046668	2
P98073	5651		<li>T->I at 65: in dbSNP:rs35987974</li><li>K->R at 77: in dbSNP:rs2824804</li><li>Q->E at 134: in dbSNP:rs2824790</li><li>S->C at 545: in dbSNP:rs8134187</li><li>E->K at 641: in dbSNP:rs2273204</li><li>N->H at 660: in dbSNP:rs11088674</li><li>S->P at 732: in dbSNP:rs2824721</li><li>Y->C at 828: in dbSNP:rs8130110</li>									<li>rs8130110</li><li>rs2824721</li><li>rs2273204</li><li>rs2824790</li><li>rs35987974</li><li>rs11088674</li><li>rs8134187</li><li>rs2824804</li>	2
P98153	9993		<li>V->A at 473: in dbSNP:rs2072123</li>									rs2072123	2
P98155	7436		<li>V->I at 59: in dbSNP:rs6149</li><li>P->H at 262: in dbSNP:rs34761707</li><li>E->K at 379: in dbSNP:rs6146</li><li>L->I at 464: in dbSNP:rs34753566</li><li>I->V at 561: in dbSNP:rs35724190</li><li>R->H at 613: in dbSNP:rs35948251</li><li>V->I at 791: in dbSNP:rs35334949</li>									<li>rs35948251</li><li>rs34761707</li><li>rs34753566</li><li>rs6149</li><li>rs35724190</li><li>rs6146</li><li>rs35334949</li>	2
P98160	3339		<li>D->E at 68: in dbSNP:rs1869780</li><li>V->M at 638: in dbSNP:rs1874792</li><li>N->S at 765: in dbSNP:rs989994</li><li>R->Q at 1186: in dbSNP:rs2229481</li><li>A->V at 1503: in dbSNP:rs897471</li><li>C->Y at 1532: in SJS1, MIM: 255800</li><li>R->Q at 1758: in dbSNP:rs2229483, MIM: 255800</li><li>R->C at 1919: in dbSNP:rs2229474, MIM: 255800</li><li>V->I at 1967: in dbSNP:rs2229475, MIM: 255800</li><li>L->H at 2980: in dbSNP:rs2229489, MIM: 255800</li><li>V->I at 2981: in dbSNP:rs2229490, MIM: 255800</li><li>S->G at 2995: in dbSNP:rs2229491, MIM: 255800</li><li>A->T at 3168: in dbSNP:rs2228349, MIM: 255800</li><li>H->Y at 3256: in dbSNP:rs2291827, MIM: 255800</li><li>R->W at 3530: in dbSNP:rs2270699, MIM: 255800</li><li>R->Q at 3632: in dbSNP:rs2229493, MIM: 255800</li><li>V->I at 3640: in dbSNP:rs17459097, MIM: 255800</li><li>S->N at 4331: in dbSNP:rs3736360, MIM: 255800</li>								Schwartz-Jampel syndrome (SJS1) [MIM:255800]	<li>rs1874792</li><li>rs2228349</li><li>rs2229481</li><li>rs2229483</li><li>rs1869780</li><li>rs2229475</li><li>rs2229474</li><li>rs2229489</li><li>rs2291827</li><li>rs2270699</li><li>rs897471</li><li>rs2229491</li><li>rs3736360</li><li>rs17459097</li><li>rs2229493</li><li>rs989994</li><li>rs2229490</li>	2
P98161	5310		<li>L->Q at 13: in ADPKD1, MIM: 173900</li><li>S->F at 75: in ADPKD1, MIM: 173900</li><li>A->V at 88, MIM: 173900</li><li>W->C at 139: in ADPKD1, MIM: 173900</li><li>R->L at 324: in ADPKD1, MIM: 173900</li><li>L->S at 845: in ADPKD1, MIM: 173900</li><li>W->R at 967: in ADPKD1, MIM: 173900</li><li>G->S at 1166: in ADPKD1, MIM: 173900</li><li>W->R at 1399, MIM: 173900</li><li>P->L at 1786: rare polymorphism, MIM: 173900</li><li>V->E at 1956: in ADPKD1, MIM: 173900</li><li>FT->L at 1992-1993: in ADPKD1, MIM: 173900</li><li>R->H at 1995, MIM: 173900</li><li>Missing  at 2220-2224: in ADPKD1, MIM: 173900</li><li>T->M at 2250: in ADPKD1; could be a rare polymorphism, MIM: 173900</li><li>R->W at 2329: in ADPKD1; could be a rare polymorphism, MIM: 173900</li><li>Y->D at 2336: in ADPKD1, MIM: 173900</li><li>Y->C at 2379, MIM: 173900</li><li>R->P at 2392: in ADPKD1, MIM: 173900</li><li>R->C at 2408: in ADPKD1, MIM: 173900</li><li>S->F at 2423: in ADPKD1, MIM: 173900</li><li>G->GG at 2443: in ADPKD1, MIM: 173900</li><li>P->L at 2471: in ADPKD1, MIM: 173900</li><li>Q->L at 2519: in ADPKD1; could be a polymorphism, MIM: 173900</li><li>E->Q at 2548: in dbSNP rsrs28369051, MIM: 173900</li><li>Missing  at 2579: in ADPKD1; could be a polymorphism, MIM: 173900</li><li>T->M at 2582: in dbSNP rsrs2432405, MIM: 173900</li><li>D->N at 2604, MIM: 173900</li><li>Missing  at 2613: in ADPKD1; could be a polymorphism, MIM: 173900</li><li>H->R at 2638: in dbSNP rsrs9936785, MIM: 173900</li><li>T->I at 2649: in ADPKD1; could be a polymorphism, MIM: 173900</li><li>P->S at 2674, MIM: 173900</li><li>L->R at 2696: in ADPKD1, MIM: 173900</li><li>T->M at 2708, MIM: 173900</li><li>P->T at 2734, MIM: 173900</li><li>Q->L at 2735, MIM: 173900</li><li>R->P at 2746: in dbSNP:rs1800569, MIM: 173900</li><li>A->D at 2752: in ADPKD1, MIM: 173900</li><li>M->T at 2760: in ADPKD1; dbSNP:rs1800568, MIM: 173900</li><li>R->P at 2761: in ADPKD1, MIM: 173900</li><li>L->V at 2763: in ADPKD1, MIM: 173900</li><li>M->T at 2764: in ADPKD1; dbSNP:rs1800570, MIM: 173900</li><li>R->C at 2765, MIM: 173900</li><li>R->RILMR at 2765: in ADPKD1, MIM: 173900</li><li>V->M at 2768: in ADPKD1; associated with S-2858, MIM: 173900</li><li>E->K at 2771: in ADPKD1, MIM: 173900</li><li>V->M at 2782, MIM: 173900</li><li>R->Q at 2791: in ADPKD1, MIM: 173900</li><li>G->R at 2814, MIM: 173900</li><li>L->P at 2816: in ADPKD1, MIM: 173900</li><li>I->T at 2826: in ADPKD1, MIM: 173900</li><li>G->S at 2858: in ADPKD1; associated with M-2768, MIM: 173900</li><li>R->G at 2888, MIM: 173900</li><li>V->I at 2905, MIM: 173900</li><li>H->P at 2921: in ADPKD1, MIM: 173900</li><li>E->D at 2966: in dbSNP rsrs13337123, MIM: 173900</li><li>D->N at 2972, MIM: 173900</li><li>Missing  at 2978: in ADPKD1; could be a polymorphism, MIM: 173900</li><li>R->G at 2985: in ADPKD1, MIM: 173900</li><li>L->P at 2993: in ADPKD1, MIM: 173900</li><li>V->L at 3008: in ADPKD1, MIM: 173900</li><li>Missing  at 3012-3017: in ADPKD1, MIM: 173900</li><li>Q->R at 3016: in ADPKD1, MIM: 173900</li><li>R->C at 3039: in ADPKD1, MIM: 173900</li><li>F->L at 3066, MIM: 173900</li><li>G->V at 3139, MIM: 173900</li><li>P->L at 3193, MIM: 173900</li><li>R->H at 3247: in ADPKD1, MIM: 173900</li><li>V->I at 3285: in ADPKD1, MIM: 173900</li><li>H->R at 3311, MIM: 173900</li><li>V->M at 3375: in ADPKD1, MIM: 173900</li><li>T->M at 3382: in ADPKD1, MIM: 173900</li><li>T->M at 3510: in dbSNP rsrs45478794, MIM: 173900</li><li>L->V at 3511: in ADPKD1; could be a polymorphism, MIM: 173900</li><li>A->V at 3512: in dbSNP rsrs34197769, MIM: 173900</li><li>G->R at 3560: in ADPKD1, MIM: 173900</li><li>S->N at 3562, MIM: 173900</li><li>E->D at 3632, MIM: 173900</li><li>M->T at 3678: in ADPKD1, MIM: 173900</li><li>R->Q at 3719: in ADPKD1, MIM: 173900</li><li>Missing  at 3748-3752: in ADPKD1, MIM: 173900</li><li>R->W at 3753: in ADPKD1, MIM: 173900</li><li>D->N at 3815: in ADPKD1, MIM: 173900</li><li>L->P at 3852: in ADPKD1, MIM: 173900</li><li>F->FLLF at 3996: in ADPKD1, MIM: 173900</li><li>G->D at 4032: in ADPKD1, MIM: 173900</li><li>I->V at 4045: in dbSNP:rs10960, MIM: 173900</li><li>V->A at 4058: in dbSNP rsrs3209986, MIM: 173900</li><li>A->V at 4059: in dbSNP rsrs3209986, MIM: 173900</li><li>Missing  at 4132: in ADPKD1, MIM: 173900</li><li>R->G at 4136: in ADPKD1, MIM: 173900</li><li>R->C at 4154: in ADPKD1, MIM: 173900</li><li>S->F at 4190, MIM: 173900</li><li>Q->P at 4225: in ADPKD1, MIM: 173900</li><li>R->W at 4276: in ADPKD1, MIM: 173900</li>								Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	<li>rs34197769</li><li>rs1800569</li><li>rs13337123</li><li>rs45478794</li><li>rs2432405</li><li>rs28369051</li><li>rs9936785</li><li>rs3209986</li><li>rs10960</li>	2
P98164	4036		<li>N->S at 83: in dbSNP:rs2229263</li><li>G->D at 669: in dbSNP:rs34291900</li><li>H->R at 909: in dbSNP:rs36082715</li><li>H->Q at 1083: in dbSNP:rs2302691</li><li>D->A at 1279: in dbSNP:rs17848149</li><li>A->P at 1287</li><li>R->K at 2012: in dbSNP:rs4667596</li><li>I->T at 2065: in dbSNP:rs2228168</li><li>Y->H at 2522: in DBS, MIM: 222448</li><li>N->D at 2632: in dbSNP:rs17848169, MIM: 222448</li><li>A->T at 2872: in dbSNP:rs2228171, MIM: 222448</li><li>R->M at 3011: in dbSNP:rs11674973, MIM: 222448</li><li>R->H at 3305: in dbSNP:rs3213760, MIM: 222448</li><li>K->E at 4094: in dbSNP:rs2075252, MIM: 222448</li><li>I->L at 4210: in dbSNP:rs4667591, MIM: 222448</li><li>M->V at 4272: in a colorectal cancer sample; somatic mutation, MIM: 222448</li>								Donnai-Barrow syndrome (DBS) [MIM:222448]	<li>rs3213760</li><li>rs11674973</li><li>rs34291900</li><li>rs2229263</li><li>rs17848149</li><li>rs2075252</li><li>rs4667591</li><li>rs2228171</li><li>rs4667596</li><li>rs17848169</li><li>rs2228168</li><li>rs36082715</li><li>rs2302691</li>	2
P98168	7789		<li>G->S at 376: in dbSNP:rs1057327</li>									rs1057327	2
P98169	158586		<li>A->T at 736: in dbSNP:rs1057338</li><li>N->S at 760: in dbSNP:rs1057340</li><li>D->N at 764: in dbSNP:rs1057341</li><li>T->R at 791: in dbSNP:rs1057343</li>									<li>rs1057338</li><li>rs1057343</li><li>rs1057341</li><li>rs1057340</li>	2
P98171	393		<li>A->V at 104: in dbSNP:rs5987182</li>									rs5987182	2
P98172	1947		<li>P->R at 27: in CFNS, MIM: 304110</li><li>P->L at 54: in CFNS, MIM: 304110</li><li>I->T at 62: in CFNS, MIM: 304110</li><li>L->S at 98: in CFNS, MIM: 304110</li><li>T->I at 111: in CFNS, MIM: 304110</li><li>Q->P at 115: in CFNS, MIM: 304110</li><li>P->H at 119: in CFNS, MIM: 304110</li><li>P->S at 119: in CFNS, MIM: 304110</li><li>P->T at 119: in CFNS, MIM: 304110</li><li>T->A at 137: in CFNS, MIM: 304110</li><li>S->F at 138: in CFNS, MIM: 304110</li><li>G->S at 151: in CFNS: in dbSNP rsrs28936069, MIM: 304110</li><li>G->V at 151: in CFNS: in dbSNP rsrs28936070, MIM: 304110</li><li>C->S at 153: in CFNS, MIM: 304110</li><li>C->Y at 153: in CFNS, MIM: 304110</li><li>R->H at 154, MIM: 304110</li><li>T->P at 155: in CFNS, MIM: 304110</li><li>M->I at 158: in CFNS: in dbSNP rsrs28935170, MIM: 304110</li><li>M->V at 158: in CFNS: in dbSNP rsrs28936071, MIM: 304110</li><li>S->R at 182: in CFNS, MIM: 304110</li><li>V->A at 189: in dbSNP:rs16989105, MIM: 304110</li>								Craniofrontonasal syndrome (CFNS) [MIM:304110]	<li>rs28936071</li><li>rs28936070</li><li>rs16989105</li><li>rs28935170</li><li>rs28936069</li>	2
P98173	60343		<li>W->C at 213: in dbSNP:rs1050788</li>									rs1050788	2
P98174	2245		<li>S->I at 205: in AAS, MIM: 305400</li><li>P->L at 312: in non-syndromal X-linked mental retardation: in dbSNP rsrs28935498, MIM: 305400</li><li>E->A at 380: in AAS, MIM: 305400</li><li>R->H at 443: in AAS, MIM: 305400</li><li>R->H at 522: in AAS, MIM: 305400</li><li>R->Q at 610: in AAS: in dbSNP rsrs28935497, MIM: 305400</li>								Aarskog-Scott syndrome (AAS) [MIM:305400]	<li>rs28935497</li><li>rs28935498</li>	2
P98175	8241		<li>R->H at 396: in a colorectal cancer sample; somatic mutation</li>										2
P98182	7752		<li>T->M at 140: in dbSNP:rs9302870</li>									rs9302870	2
P98194	27032		<li>P->L at 201: in HHD, MIM: 169600</li><li>A->T at 304: in HHD, MIM: 169600</li><li>G->C at 309: in HHD; unable to bind manganese, reduced affinity for calcium, MIM: 169600</li><li>L->P at 318: in HHD, MIM: 169600</li><li>L->P at 341: in HHD; unstable protein, MIM: 169600</li><li>C->Y at 344: in HDD; unstable protein, MIM: 169600</li><li>C->R at 411: in HDD; unstable protein, MIM: 169600</li><li>A->T at 450: in dbSNP:rs41434650, MIM: 169600</li><li>C->F at 490: in HHD, MIM: 169600</li><li>T->I at 570: in HDD; unstable protein, MIM: 169600</li><li>I->V at 580: in HDD; unable to undergo conformational change necessary for ion transport, MIM: 169600</li><li>L->P at 584: in HHD, MIM: 169600</li><li>M->R at 641: in HHD, MIM: 169600</li><li>G->R at 645: in HHD, MIM: 169600</li><li>T->M at 709: in HHD, MIM: 169600</li><li>D->Y at 742: in HDD; unable to bind calcium or manganese, MIM: 169600</li><li>P->R at 744: in HHD, MIM: 169600</li><li>G->R at 789: in HDD; unstable protein, MIM: 169600</li>	ion transport	GO:0006811						Hailey-Hailey disease (HHD) [MIM:169600]	rs41434650	2
P98196	23250		<li>V->I at 1091: in dbSNP:rs11616795</li>									rs11616795	2
P99999	54205		<li>G->S at 42: in THC4; increases the pro-apoptotic function by triggering caspase activation more efficiently than wild-type; does not affect the redox function, MIM: 612004</li><li>K->R at 56: in dbSNP:rs11548795, MIM: 612004</li><li>M->L at 66: in 10% of the molecules, MIM: 612004</li>	caspase activation	GO:0006919						Thrombocytopenia type 4 (THC4) [MIM:612004]	rs11548795	2
Q00005	5521		<li>G->V at 36: in dbSNP:rs11547494</li>									rs11547494	2
Q00013	4354		<li>E->Q at 448: in dbSNP:rs14092</li>									rs14092	2
Q00056	3201		<li>G->D at 37: in a breast cancer sample; somatic mutation</li><li>T->P at 70: in dbSNP:rs6944345</li><li>L->P at 140: in dbSNP:rs10251056</li><li>L->F at 178: in dbSNP:rs13246088</li><li>T->P at 251: in dbSNP:rs6976847</li><li>P->S at 317: in dbSNP:rs17500757</li>									<li>rs6944345</li><li>rs6976847</li><li>rs10251056</li><li>rs17500757</li><li>rs13246088</li>	2
Q00059	7019		<li>S->T at 12: in dbSNP:rs1937</li>									rs1937	2
Q00266	4143		<li>S->N at 38: in hypermethioninemia; abolishes enzyme activity, MIM: 250850</li><li>A->D at 55: in hypermethioninemia, MIM: 250850</li><li>Q->H at 119: in dbSNP:rs1143693, MIM: 250850</li><li>R->C at 199: in hypermethioninemia; retains 11% of wild-type activity, MIM: 250850</li><li>R->C at 264: in hypermethioninemia; has virtually no enzymatic activity, MIM: 250850</li><li>R->H at 264: in hypermethioninemia; dominant mutation, MIM: 250850</li><li>L->P at 305: in hypermethioninemia, MIM: 250850</li><li>I->M at 322: in hypermethioninemia; diminishes but do not completely abolishes enzyme activity; 46% of the level of the wild-type enzyme, MIM: 250850</li><li>G->R at 336: in hypermethioninemia; retains significant enzymatic activity; 23% of the level of the wild-type enzyme, MIM: 250850</li><li>E->A at 344: in hypermethioninemia; diminishes but do not completely abolishes enzyme activity; 12% of the level of the wild-type enzyme, MIM: 250850</li><li>R->Q at 356: in hypermethioninemia, MIM: 250850</li><li>P->L at 357: in hypermethioninemia, MIM: 250850</li><li>G->S at 378: in hypermethioninemia, MIM: 250850</li>								Hypermethioninemia [MIM:250850]	rs1143693	2
Q00325	5250		<li>G->E at 72: in MPCD, MIM: 610773</li>								Mitochondrial phosphate carrier deficiency (MPCD) [MIM:610773]		2
Q00341	3069		<li>S->A at 61: in dbSNP:rs11891776</li><li>N->S at 418: in dbSNP:rs7578199</li><li>K->N at 568: in a breast cancer sample; somatic mutation</li><li>D->V at 939: in a breast cancer sample; somatic mutation</li><li>W->L at 1264: in dbSNP:rs12281</li>									<li>rs7578199</li><li>rs12281</li><li>rs11891776</li>	2
Q00526	1018		<li>S->N at 106: in a glioblastoma multiforme sample; somatic mutation</li><li>I->T at 124: in dbSNP rsrs34918446</li><li>R->H at 214: in dbSNP:rs34670267</li><li>T->I at 226: in dbSNP:rs2069532</li><li>M->T at 264: in dbSNP:rs17884251</li>									<li>rs2069532</li><li>rs34670267</li><li>rs34918446</li><li>rs17884251</li>	2
Q00532	8814		<li>L->P at 66: in dbSNP rsrs11570814</li><li>Q->E at 274: in dbSNP:rs7161563</li><li>L->V at 329: in dbSNP:rs9323183</li><li>K->N at 341: in dbSNP rsrs11570886</li>									<li>rs11570814</li><li>rs7161563</li><li>rs11570886</li><li>rs9323183</li>	2
Q00534	1021		<li>D->N at 110: in dbSNP:rs35654944</li><li>P->L at 199: in a metastatic melanoma sample; somatic mutation</li>									rs35654944	2
Q00535	1020		<li>E->D at 225: in dbSNP rsrs35186917</li>									rs35186917	2
Q00597	2176		<li>S->F at 26: in dbSNP:rs1800361</li><li>I->T at 80: in dbSNP:rs4647419</li><li>G->E at 139: in dbSNP:rs1800362</li><li>L->F at 190: in dbSNP:rs1800364</li><li>D->V at 195: in FA; dbSNP:rs1800365, MIM: 227650</li><li>I->V at 312: in dbSNP:rs1800366, MIM: 227650</li><li>V->M at 449: in dbSNP:rs1800367, MIM: 227650</li><li>Q->R at 465: in dbSNP:rs1800368, MIM: 227650</li><li>L->R at 496: in FA, MIM: 227650</li><li>L->P at 554: in FA; loss of activity, MIM: 227650</li>								Fanconi anemia (FA) [MIM:227650]	<li>rs4647419</li><li>rs1800368</li><li>rs1800367</li><li>rs1800366</li><li>rs1800365</li><li>rs1800364</li><li>rs1800362</li><li>rs1800361</li>	2
Q00796	6652		<li>L->Q at 239: in dbSNP rsrs55739437</li>									rs55739437	2
Q00839	3192		<li>F->L at 711: in dbSNP:rs1052660</li>									rs1052660	2
Q00872	4604		<li>H->Q at 481: in dbSNP:rs3817552</li>									rs3817552	2
Q00887	5678		<li>I->T at 325: in dbSNP:rs1135905</li><li>Q->L at 374: in dbSNP:rs2074923</li><li>H->R at 397: in dbSNP:rs2072285</li>									<li>rs2072285</li><li>rs2074923</li><li>rs1135905</li>	2
Q00888			<li>V->L at 75: in dbSNP:rs3170216</li>									rs3170216	2
Q00889	5675		<li>H->D at 85: in dbSNP:rs3198831</li><li>L->F at 155: in dbSNP:rs1058674</li><li>M->T at 161: in dbSNP:rs1058679</li><li>R->L at 165: in dbSNP:rs1058680</li><li>I->T at 167: in dbSNP:rs1065505</li><li>L->W at 180: in dbSNP:rs1065507</li><li>L->M at 181: in dbSNP:rs1065508</li><li>N->S at 185: in dbSNP:rs1065509</li><li>R->S at 191: in dbSNP:rs1058688</li><li>K->E at 196: in dbSNP:rs1065511</li><li>K->N at 253: in dbSNP:rs1065513</li><li>L->S at 257: in dbSNP:rs1058710</li><li>A->T at 258: in dbSNP:rs1065515</li><li>I->S at 404: in dbSNP:rs1065525</li>									<li>rs3198831</li><li>rs1058680</li><li>rs1065511</li><li>rs1065515</li><li>rs1065525</li><li>rs1065507</li><li>rs1065508</li><li>rs1065513</li><li>rs1065509</li><li>rs1065505</li><li>rs1058710</li><li>rs1058679</li><li>rs1058688</li><li>rs1058674</li>	2
Q008S8	345930		<li>Q->H at 483: in dbSNP:rs12198781</li><li>E->K at 527: in dbSNP:rs1529151</li><li>A->T at 594: in dbSNP:rs11968285</li>									<li>rs1529151</li><li>rs11968285</li><li>rs12198781</li>	2
Q00973	2583		<li>L->V at 35: in dbSNP:rs774896</li><li>G->R at 172: in dbSNP:rs810205</li><li>A->V at 516: in dbSNP:rs17454674</li>									<li>rs17454674</li><li>rs810205</li><li>rs774896</li>	2
Q00975	774		<li>N->K at 167: in dbSNP:rs4422842</li><li>E->K at 1436: in dbSNP:rs12377346</li><li>E->K at 1500: in dbSNP:rs12377346</li>									<li>rs12377346</li><li>rs4422842</li>	2
Q00G26	440503		<li>A->V at 6: in dbSNP:rs10407239</li><li>R->C at 255: in dbSNP:rs1610090</li><li>W->R at 306: in dbSNP:rs1062223</li>									<li>rs1610090</li><li>rs10407239</li><li>rs1062223</li>	2
Q00LT1	768206		<li>C->Y at 2: in RP36, MIM: 610599</li><li>R->C at 17, MIM: 610599</li><li>V->M at 30: in RP36; may be a common polymorphism, MIM: 610599</li>								Retinitis pigmentosa 36 (RP36) [MIM:610599]		2
Q01082	6711		<li>D->H at 1411: in dbSNP:rs1052790</li>									rs1052790	2
Q01113	3581		<li>R->K at 63: in dbSNP:rs3093495</li><li>E->Q at 239: in dbSNP:rs6522</li><li>Y->C at 288: in dbSNP:rs3093514</li><li>G->R at 331: in dbSNP:rs2230001</li><li>R->H at 365: in dbSNP:rs2228650</li>									<li>rs3093495</li><li>rs2230001</li><li>rs3093514</li><li>rs2228650</li><li>rs6522</li>	2
Q01118	6332		<li>I->V at 407: in dbSNP:rs11888208</li>									rs11888208	2
Q01151	9308		<li>R->Q at 182: in dbSNP:rs2230193</li>									rs2230193	2
Q01201	5971		<li>T->M at 396: in dbSNP:rs2230682</li>									rs2230682	2
Q01344	3568		<li>I->V at 129: in dbSNP:rs2290610</li><li>V->A at 262: in dbSNP:rs17879690</li>									<li>rs2290610</li><li>rs17879690</li>	2
Q01362	2206		<li>T->M at 143: in dbSNP:rs35033981</li><li>N->K at 211: in dbSNP:rs535630</li><li>E->G at 237: in dbSNP:rs569108</li>									<li>rs35033981</li><li>rs535630</li><li>rs569108</li>	2
Q01415	2585		<li>I->V at 182: in dbSNP:rs35507772</li>									rs35507772	2
Q01432	272		<li>R->W at 185: in dbSNP:rs11042836</li><li>N->K at 310: in AMPDDE, MIM: 102772</li><li>V->L at 311: in AMPDDE, MIM: 102772</li><li>A->V at 320: in AMPDDE, MIM: 102772</li><li>M->T at 324: in AMPDDE, MIM: 102772</li><li>R->C at 331: in AMPDDE, MIM: 102772</li><li>R->C at 402: in AMPDDE, MIM: 102772</li><li>W->R at 450: in AMPDDE, MIM: 102772</li><li>Y->H at 455: in dbSNP:rs36003153, MIM: 102772</li><li>R->C at 573: in AMPDDE; enzyme inactive; dbSNP:rs3741040, MIM: 102772</li><li>P->L at 585: in AMPDDE, MIM: 102772</li><li>Q->P at 712: in AMPDDE, MIM: 102772</li>								Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:102772]	<li>rs36003153</li><li>rs11042836</li><li>rs3741040</li>	2
Q01453	5376		<li>H->Q at 12: in DSS, MIM: 145900</li><li>L->P at 16: in CMT1A and DSS, MIM: 145900</li><li>L->P at 19: in DSS, MIM: 145900</li><li>S->F at 22: in HNPP and CMT1A, MIM: 162500</li><li>T->R at 23: in CMT1E, MIM: 118300</li><li>Missing  at 25-26: in CMT1A, MIM: 118300</li><li>W->R at 28: in CMT1E, MIM: 118300</li><li>V->M at 30: in HNPP, MIM: 162500</li><li>D->V at 37: in CMT1A; with focally folded myelin sheaths, MIM: 118220</li><li>V->F at 65: in CMT1A, MIM: 118220</li><li>A->P at 67: in CMT1E, MIM: 118300</li><li>A->T at 67: in HNPP, MIM: 162500</li><li>M->K at 69: in DSS, MIM: 145900</li><li>L->P at 71: in DSS, MIM: 145900</li><li>S->L at 72: in DSS and CMT1A, MIM: 145900</li><li>S->P at 72: in DSS, MIM: 145900</li><li>S->W at 72: in DSS, MIM: 145900</li><li>S->I at 76: in DSS, MIM: 145900</li><li>S->C at 79: in CMT1A, MIM: 118220</li><li>S->P at 79: in DSS, MIM: 145900</li><li>L->P at 80: in DSS, MIM: 145900</li><li>L->R at 80: in DSS, MIM: 145900</li><li>Missing  at 84: in DSS, MIM: 145900</li><li>G->R at 93: in CMT1A, MIM: 118220</li><li>G->E at 100: in DSS, MIM: 145900</li><li>G->R at 100: in DSS, MIM: 145900</li><li>L->R at 105: in CMT1A and DSS, MIM: 145900</li><li>G->V at 107: in CMT1A, MIM: 118220</li><li>C->R at 109: in DSS, MIM: 145900</li><li>Missing  at 115-118: in CMT1E, MIM: 145900</li><li>T->M at 118: in CMT1A, MIM: 118220</li><li>I->V at 137, MIM: 118220</li><li>L->R at 147: in CMT1A, MIM: 118220</li><li>S->R at 149: in DSS, MIM: 145900</li><li>G->C at 150: in DSS, MIM: 145900</li><li>G->D at 150: in DSS, MIM: 145900</li><li>R->G at 157: in dbSNP:rs28936682, MIM: 145900</li><li>R->W at 157: in DSS: in dbSNP rsrs28936682, MIM: 145900</li>								<li>Dejerine-Sottas syndrome (DSS) [MIM:145900]</li><li>Charcot-Marie-Tooth disease type 1E (CMT1E) [MIM:118300]</li><li>Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220]</li><li>Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500]</li>	rs28936682	2
Q01459	1486		<li>V->I at 274: in dbSNP:rs15911</li><li>D->Y at 310: in dbSNP:rs3768249</li>									<li>rs3768249</li><li>rs15911</li>	2
Q01484	287	<ul><li>DAR->AAA at 975-977: Prevents binding to SPTBN1</li><li>A->P at 1000: Prevents binding to SPTBN1</li><li>ENGD->AAGA at 1067-1070: Weak binding to SPTBN1</li></ul>	<li>G->E at 685: in a breast cancer sample; somatic mutation</li><li>G->R at 1234: in a colorectal cancer sample; somatic mutation</li><li>E->G at 1425: in LQT4; loss of function, MIM: 600919</li><li>T->K at 3620: in a colorectal cancer sample; somatic mutation, MIM: 600919</li><li>L->I at 3707: in LQT4; loss of function, MIM: 600919</li><li>T->N at 3711: in LQT4; loss of function, MIM: 600919</li><li>R->W at 3873: in LQT4; loss of function, MIM: 600919</li><li>E->K at 3898: in LQT4; loss of function, MIM: 600919</li>			binding	GO:0005488			Q01082	Long QT syndrome type 4 (LQT4) [MIM:600919]		3
Q01518	10487		<li>G->C at 229: in dbSNP:rs11207440</li><li>C->G at 236: in dbSNP:rs6665926</li><li>I->S at 245: in dbSNP:rs6665933</li><li>C->G at 247: in dbSNP:rs6665936</li><li>Y->D at 249: in dbSNP:rs6665937</li><li>S->A at 256: in dbSNP:rs6665944</li>									<li>rs6665926</li><li>rs6665936</li><li>rs11207440</li><li>rs6665937</li><li>rs6665933</li><li>rs6665944</li>	2
Q01534			<li>E->EVEVVAE at 79</li><li>P->R at 195</li><li>I->F at 216</li>										2
Q01546	51350		<li>L->V at 168: in a breast cancer sample; somatic mutation</li><li>A->T at 283: in dbSNP:rs11170271</li><li>T->A at 359: in dbSNP:rs6580904</li><li>T->M at 629: in dbSNP:rs2280480</li>									<li>rs11170271</li><li>rs6580904</li><li>rs2280480</li>	2
Q01628	10410		<li>H->Q at 3: in dbSNP:rs1136853</li>									rs1136853	2
Q01629			<li>T->M at 41: in dbSNP:rs14408</li>									rs14408	2
Q01638	9173		<li>A->E at 78: in dbSNP:rs1041973</li><li>A->T at 433: in dbSNP:rs4988956</li><li>Q->K at 501: in dbSNP:rs10192036</li><li>Q->R at 501: in dbSNP:rs10204137</li><li>T->I at 549: in dbSNP:rs10192157</li><li>L->S at 551: in dbSNP:rs10206753</li>									<li>rs10206753</li><li>rs10192036</li><li>rs1041973</li><li>rs10192157</li><li>rs10204137</li><li>rs4988956</li>	2
Q01650	8140		<li>N->K at 230: in dbSNP:rs1060250</li>									rs1060250	2
Q01658	1810		<li>E->D at 171: in dbSNP:rs3088371</li>									rs3088371	2
Q01668	776		<li>M->MM at 1: in a NIDDM patient</li>										2
Q01718	4158		<li>P->R at 27: in dbSNP rsrs28926178</li><li>S->I at 74: in GCCD1; complete loss of activity, MIM: 202200</li><li>D->N at 103: in GCCD1, MIM: 202200</li><li>D->N at 107: in GCCD1, MIM: 202200</li><li>S->R at 120: in GCCD1, MIM: 202200</li><li>R->C at 128: in GCCD1, MIM: 202200</li><li>R->W at 137: in GCCD1; partial loss of ACTIVITY, MIM: 202200</li><li>R->H at 146: in GCCD1, MIM: 202200</li><li>C->F at 251: in GCCD1, MIM: 202200</li><li>Y->C at 254: in GCCD1; complete loss of activity: in dbSNP rsrs28940892, MIM: 202200</li><li>F->C at 278: in dbSNP:rs28926182, MIM: 202200</li>								Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]	<li>rs28940892</li><li>rs28926182</li><li>rs28926178</li>	2
Q01726	4157		<li>I->T at 40: associated with fair hair and light skin; partial loss of function</li><li>V->L at 60: associated with SHEP2; dbSNP:rs1805005</li><li>R->Q at 67: shows a moderate and not significant decrease of cAMP production to NDP-MSH stimulation; shows a decreased responses to low concentrations of NDP-MSH stimulation; dbSNP:rs34090186</li><li>D->E at 84: susceptibility to melanoma; dbSNP:rs1805006</li><li>G->R at 89: in dbSNP:rs34540312</li><li>V->M at 92: associated with SHEP2; predominantly in type I skin; shows a moderate and not significant decreased of cAMP production to NDP-MSH stimulation; dbSNP:rs2228479</li><li>T->M at 95: in dbSNP:rs34158934</li><li>G->S at 104: in dbSNP:rs2229617</li><li>I->T at 120: shows a moderate and not significant decrease of cAMP production to NDP-MSH stimulation; shows decreased responses to low concentrations of NDP-MSH stimulation; dbSNP:rs33932559</li><li>V->M at 122: associated with fair hair and light skin; partial loss of function</li><li>Missing  at 147: associated with UV induced sucpetibility to skin damage; virtually unresponsive to NDP-MSH stimulation</li><li>R->C at 151: associated with SHEP2; binds to alpha-MSH but cannot be stimulated to produce cAMP; dbSNP:rs1805007</li><li>I->T at 155: in dbSNP:rs1110400</li><li>V->L at 156: in dbSNP:rs3212365</li><li>T->I at 157: associated with UV induced sucpetibility to skin damage; shows a dramatically decreased cAMP production to NDP-MSH stimulation</li><li>P->T at 159: associated with UV induced sucpetibility to skin damage; shows a strong decreased cAMP production to NDP-MSH stimulation</li><li>R->W at 160: associated with SHEP2; dbSNP:rs1805008</li><li>R->P at 162</li><li>R->Q at 163: shows a moderate and not significant decrease of cAMP production to NDP-MSH stimulation; shows a not significant decrease in cAMP production at any concentrations of NDP-MSH stimulation; dbSNP:rs885479</li><li>A->G at 166: shows a moderate and not significant decrease of cAMP production to NDP-MSH stimulation; shows a not significant decrease in cAMP production at any concentrations of NDP-MSH stimulation; dbSNP:rs35040147</li><li>A->S at 171: in dbSNP:rs35784916</li><li>L->M at 192: shows a moderate and not significant decrease of cAMP production to NDP-MSH stimulation; shows a significant decrease of cAMP production when low concentrations of NDP-MSH is administered</li><li>F->L at 196: in dbSNP:rs3212366</li><li>D->H at 294: associated with SHEP2; dbSNP:rs1805009</li>							<li>P68000</li><li>P68001</li><li>Q9YGK2</li><li>Q9YGK4</li><li>P10000</li><li>P22923</li><li>P01189</li><li>P01197</li><li>Q60HE4</li><li>P01196</li><li>P87352</li><li>P01194</li><li>P01193</li><li>P01192</li><li>P01191</li><li>P01190</li><li>P19402</li><li>P61281</li><li>P41589</li><li>P01201</li><li>Q91082</li><li>P61280</li><li>P06298</li><li>P06297</li><li>P11280</li><li>Q00604</li><li>Q9YGK5</li><li>Q2KI78</li><li>P06299</li><li>P11885</li><li>P21252</li>		<li>rs1805006</li><li>rs35784916</li><li>rs1805005</li><li>rs35040147</li><li>rs1805008</li><li>rs1805007</li><li>rs1805009</li><li>rs33932559</li><li>rs3212366</li><li>rs3212365</li><li>rs2229617</li><li>rs2228479</li><li>rs34540312</li><li>rs1110400</li><li>rs34158934</li><li>rs34090186</li><li>rs885479</li>	2
Q01740	2326		<li>H->Q at 97: in dbSNP rsrs56841822</li><li>R->Q at 223: in dbSNP:rs16864310</li><li>S->T at 227</li><li>I->T at 303: in dbSNP:rs28360418</li><li>I->V at 303: in dbSNP:rs16864314</li><li>I->V at 322: in dbSNP rsrs28360419</li><li>F->L at 327: in dbSNP rsrs28360420</li><li>K->R at 373: in dbSNP rsrs28360421</li><li>R->H at 474: in dbSNP rsrs28360433</li>									<li>rs28360420</li><li>rs28360421</li><li>rs28360433</li><li>rs28360418</li><li>rs16864310</li><li>rs28360419</li><li>rs56841822</li><li>rs16864314</li>	2
Q01804	54726		<li>A->G at 194: in dbSNP:rs36225458</li><li>A->T at 216</li>									rs36225458	2
Q01831	7508		<li>L->V at 16: in dbSNP rsrs1870134</li><li>L->F at 48: in dbSNP rsrs3731062</li><li>K->R at 86: in dbSNP rsrs3731063</li><li>R->Q at 314: in dbSNP rsrs3731126</li><li>P->H at 334: in XP-C; severe, MIM: 278720</li><li>R->H at 492, MIM: 278720</li><li>V->A at 499, MIM: 278720</li><li>M->I at 513, MIM: 278720</li><li>Q->E at 632, MIM: 278720</li><li>R->H at 671: in dbSNP rsrs3731140, MIM: 278720</li><li>T->M at 689: in dbSNP rsrs3731152, MIM: 278720</li><li>V->VV at 697: in XP-C; mild, MIM: 278720</li><li>K->Q at 928: in dbSNP rsrs3731177, MIM: 278720</li><li>K->Q at 939: in dbSNP rsrs2228001, MIM: 278720</li>								Xeroderma pigmentosum complementation group C (XP-C) [MIM:278720]	<li>rs3731177</li><li>rs3731126</li><li>rs3731063</li><li>rs3731152</li><li>rs3731140</li><li>rs3731062</li><li>rs1870134</li><li>rs2228001</li>	2
Q01851	5457		<li>Missing at 163</li>										2
Q01860	5460		<li>L->F at 226: in dbSNP:rs1150767</li><li>T->A at 322</li><li>T->I at 351: in dbSNP:rs1061120</li><li>M->L at 357</li>									<li>rs1061120</li><li>rs1150767</li>	2
Q01955	1285		<li>G->R at 43: in dbSNP:rs13424243</li><li>L->P at 141: in dbSNP:rs10178458</li><li>E->G at 162: in dbSNP:rs6436669</li><li>G->E at 297: in APSAR, MIM: 203780</li><li>D->Y at 326: in dbSNP rsrs55703767, MIM: 203780</li><li>G->R at 407: in APSAR, MIM: 203780</li><li>R->H at 408: in dbSNP rsrs34505188, MIM: 203780</li><li>H->R at 451: in dbSNP:rs11677877, MIM: 203780</li><li>G->D at 532: in APSAR, MIM: 203780</li><li>P->L at 574: in dbSNP:rs28381984, MIM: 203780</li><li>G->R at 640: in APSAR, MIM: 203780</li><li>G->R at 739: in APSAR, MIM: 203780</li><li>G->R at 853: in APSAR, MIM: 203780</li><li>G->V at 985: in BFH, MIM: 141200</li><li>G->E at 1015: in BFH, MIM: 141200</li><li>G->R at 1167: in APSAR; in isolated microhematuria at heterozygosity, MIM: 203780</li><li>G->E at 1207: in APSAR; in isolated microhematuria at heterozygosity, MIM: 203780</li><li>R->Q at 1215: in APSAR; could be a polymorphism, MIM: 203780</li><li>G->R at 1216: in APSAR, MIM: 203780</li><li>D->E at 1269: in dbSNP rsrs57611801, MIM: 203780</li><li>G->S at 1277: in APSAR, MIM: 203780</li><li>I->T at 1330: in APSAR; could be a polymorphism, MIM: 203780</li><li>G->E at 1334: in APSAR, MIM: 203780</li><li>D->E at 1347: in APSAR; could be a polymorphism, MIM: 203780</li><li>L->P at 1474, MIM: 203780</li><li>Q->R at 1495, MIM: 203780</li><li>R->C at 1661: in APSAR, MIM: 203780</li>								<li>Benign familial hematuria (BFH) [MIM:141200]</li><li>Alport syndrome autosomal recessive (APSAR) [MIM:203780]</li>	<li>rs57611801</li><li>rs34505188</li><li>rs55703767</li><li>rs11677877</li><li>rs13424243</li><li>rs10178458</li><li>rs28381984</li><li>rs6436669</li>	2
Q01959	6531		<li>G->S at 121: in a breast cancer sample; somatic mutation</li><li>R->Q at 237: in dbSNP:rs6345</li><li>R->S at 544: in a breast cancer sample; somatic mutation</li>									rs6345	2
Q01968	4952		<li>R->C at 318: in DD2, MIM: 300555</li><li>R->P at 337: in Lowe syndrome, MIM: 309000</li><li>G->E at 357: in Lowe syndrome; could be a rare polymorphism, MIM: 309000</li><li>Missing  at 367: in Lowe syndrome, MIM: 309000</li><li>V->G at 372: in Lowe syndrome, MIM: 309000</li><li>H->Y at 375: in Lowe syndrome, MIM: 309000</li><li>G->E at 421: in Lowe syndrome, MIM: 309000</li><li>N->D at 424: in Lowe syndrome, MIM: 309000</li><li>D->G at 451: in Lowe syndrome, MIM: 309000</li><li>F->S at 463: in Lowe syndrome, MIM: 309000</li><li>Missing  at 478-479: in Lowe syndrome, MIM: 309000</li><li>Y->C at 479: in DD2, MIM: 300555</li><li>C->Y at 498: in Lowe syndrome, MIM: 309000</li><li>R->G at 500: in Lowe syndrome, MIM: 309000</li><li>R->Q at 500: in Lowe syndrome, MIM: 309000</li><li>V->D at 508: in Lowe syndrome, MIM: 309000</li><li>Y->C at 513: in Lowe syndrome, MIM: 309000</li><li>S->R at 522: in Lowe syndrome, MIM: 309000</li><li>H->Q at 524: in Lowe syndrome, MIM: 309000</li><li>H->R at 524: in Lowe syndrome, MIM: 309000</li><li>P->L at 526: in Lowe syndrome, MIM: 309000</li><li>I->S at 533: in Lowe syndrome, MIM: 309000</li><li>I->N at 768: in Lowe syndrome; could be a rare polymorphism, MIM: 309000</li><li>A->P at 797: in Lowe syndrome; could be a rare polymorphism, MIM: 309000</li>							P52895	<li>Dent disease type 2 (DD2) [MIM:300555]</li><li>Lowe syndrome [MIM:309000]</li>		2
Q01970	5331		<li>R->H at 483: in dbSNP:rs12146487</li>									rs12146487	2
Q01973	4919		<li>G->E at 144: in a metastatic melanoma sample; somatic mutation</li><li>F->L at 150: in an ovarian mucinous carcinoma sample; somatic mutation</li><li>I->V at 301: in a renal clear cell carcinoma sample; somatic mutation</li><li>T->M at 518: in dbSNP:rs7527017</li><li>E->D at 562: in a breast cancer sample; somatic mutation</li><li>R->I at 567: in a colorectal adenocarcinoma sample; somatic mutation</li><li>G->R at 624: in dbSNP rsrs55832740</li><li>Y->C at 646: in dbSNP rsrs34109134</li><li>S->N at 776: in a colorectal adenocarcinoma sample; somatic mutation</li>									<li>rs7527017</li><li>rs55832740</li><li>rs34109134</li>	2
Q01974	4920		<li>C->Y at 182: in RRS, MIM: 268310</li><li>R->C at 184: in RRS, MIM: 268310</li><li>R->W at 189: in RRS, MIM: 268310</li><li>R->Q at 244: in dbSNP rsrs55737262, MIM: 268310</li><li>T->A at 245: in dbSNP:rs10820900, MIM: 268310</li><li>H->D at 349: in dbSNP rsrs55983376, MIM: 268310</li><li>R->W at 366: in RRS, MIM: 268310</li><li>G->A at 490: in dbSNP rsrs56197744, MIM: 268310</li><li>R->Q at 530: in dbSNP rsrs35852786, MIM: 268310</li><li>V->M at 542: in a colorectal adenocarcinoma sample; somatic mutation, MIM: 268310</li><li>P->S at 548: in dbSNP:rs35764413, MIM: 268310</li><li>S->L at 557: in dbSNP rsrs56099091, MIM: 268310</li><li>N->K at 620: in RRS, MIM: 268310</li><li>D->N at 644: in dbSNP rsrs55798732, MIM: 268310</li><li>D->N at 672: in dbSNP rsrs55651110, MIM: 268310</li><li>G->R at 695: in dbSNP:rs34431454, MIM: 268310</li><li>R->C at 738: in dbSNP rsrs56231927, MIM: 268310</li><li>S->L at 762: in dbSNP rsrs34491822, MIM: 268310</li><li>V->I at 819: in dbSNP:rs10761129, MIM: 268310</li><li>D->E at 935: in dbSNP rsrs41277835, MIM: 268310</li>								Recessive Robinow syndrome (RRS) [MIM:268310]	<li>rs55651110</li><li>rs34491822</li><li>rs56099091</li><li>rs10761129</li><li>rs55737262</li><li>rs10820900</li><li>rs55798732</li><li>rs41277835</li><li>rs35852786</li><li>rs56231927</li><li>rs55983376</li><li>rs35764413</li><li>rs34431454</li><li>rs56197744</li>	2
Q01995	6876		<li>N->S at 182: in dbSNP:rs12284316</li>									rs12284316	2
Q02045	4636		<li>F->S at 88: in dbSNP:rs2228354</li>									rs2228354	2
Q02078	4205	<ul><li>D->A at 176: Abolishes cleavage at sites 1 and 2 by caspase 3. Increased cleavage at site 3 by caspase 3</li><li>D->A at 213: Abolishes cleavage at sites 2 and 3 by caspase 7</li><li>S->A at 255: Slightly increased MEF2A protein level</li><li>S->D at 255: Decreased MEF2A protein level</li><li>R->A at 269: Reduced p38 alpha- and beta2-mediated transcriptional activity; when associated with A-270</li><li>K->A at 270: Reduced p38 alpha- and beta2-mediated transcriptional activity; when associated with A-269</li><li>L->A at 273: Reduced p38 alpha- and beta2-mediated transcriptional activity; when associated with A-275</li><li>V->A at 275: Reduced p38 alpha- and beta2-mediated transcriptional activity; when associated with A-273</li><li>I->A at 277: Reduced p38 alpha- and beta2-mediated transcriptional activity; when associated with A-278</li><li>P->A at 278: Reduced p38 alpha- and beta2-mediated transcriptional activity; when associated with A-277</li><li>T->A at 312: Greatly reduced p38-mediated phosphorylation. Abolishes p38-mediated transcriptional activation; when associated with A-319</li><li>T->A at 319: Greatly reduced p38-mediated phosphorylation. Abolishes P38-mediated transcriptional activation; when associated with A-312</li><li>S->A at 355: No effect on p38-mediated transcriptional avtivity</li><li>S->A at 387: No effect on p38-mediated phosphorylation</li><li>K->R at 403: Abolishes sumoylation. No change in subcellular location nor in DNA binding. Loss of transcriptional repression</li><li>S->A at 408: Loss of sumoylation</li><li>S->D at 408: Rescues sumoylation</li><li>S->A at 453: No effect on p38-mediated phosphorylation</li><li>S->A at 479: No effect on p38-mediated phosphorylation</li></ul>	<li>N->S at 263</li><li>P->L at 279</li><li>G->D at 283</li><li>Missing  at 440-446: loss of nuclear localization; 66% decrease in transcription activation; loss of synergistic activation by MEF2A and GATA1 through a dominant-negative mechanism</li>	<li>phosphorylation</li><li>sumoylation</li><li>transcription</li><li>localization</li>	<li>GO:0016310</li><li>GO:0016925</li><li>GO:0006350</li><li>GO:0051179</li>	DNA binding	GO:0003677			<li>Q8LAU9</li><li>Q04929</li><li>P17678</li><li>Q63768</li><li>P15976</li><li>O75791</li><li>P80350</li><li>O97628</li><li>Q01552</li><li>Q02078</li><li>O24473</li><li>P82869</li><li>Q9Y2S7</li><li>Q9LDA4</li><li>O95433</li><li>Q64010</li><li>P46108</li>			3
Q02083	27163		<li>N->K at 107: in dbSNP:rs34751328</li><li>V->I at 151: in dbSNP:rs4859571</li><li>F->L at 334: in dbSNP:rs6823734</li>									<li>rs34751328</li><li>rs6823734</li><li>rs4859571</li>	2
Q02094	6005		<li>S->N at 79: in RHN, MIM: 268150</li><li>N->D at 242: in dbSNP:rs1058063, MIM: 268150</li><li>V->I at 270: in RHN; dbSNP:rs16879498, MIM: 268150</li><li>G->E at 279: in RHN: in dbSNP rsrs28933991, MIM: 268150</li><li>G->R at 280: in RHN, MIM: 268150</li><li>G->V at 380: in RHN, MIM: 268150</li>								Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]	<li>rs1058063</li><li>rs28933991</li><li>rs16879498</li>	2
Q02108	2982		<li>V->I at 25: in dbSNP:rs2170646</li>									rs2170646	2
Q02127	1723		<li>K->Q at 7: in dbSNP:rs3213422</li>									rs3213422	2
Q02161	6007		<li>W->C at 16: in dbSNP:rs586178</li><li>S->C at 103: in a breast cancer sample; somatic mutation</li><li>L->P at 110: in Tar antigen</li><li>E->K at 193: in dbSNP:rs17418091</li><li>T->R at 201: in dbSNP:rs17418098</li><li>M->I at 218</li><li>F->V at 223: in RhDVa</li><li>E->Q at 233: in RhDVa</li><li>V->M at 238: in RhDVa: in dbSNP rsrs1053360</li><li>V->L at 245: in RhDVa</li><li>G->R at 263: in dbSNP:rs3118454</li><li>V->I at 306: in dbSNP:rs590813</li><li>Y->C at 311: in dbSNP:rs590787</li>									<li>rs590813</li><li>rs586178</li><li>rs17418091</li><li>rs17418098</li><li>rs3118454</li><li>rs1053360</li><li>rs590787</li>	2
Q02218	4967		<li>V->I at 1018: in dbSNP:rs2070607</li>									rs2070607	2
Q02223	608		<li>A->V at 54: in dbSNP:rs11570146</li><li>I->V at 65: in dbSNP:rs11570147</li><li>F->V at 75: in dbSNP:rs11570148</li><li>S->N at 81: in dbSNP:rs373496</li><li>A->T at 153</li><li>C->S at 165: in dbSNP:rs11570159</li>									<li>rs11570159</li><li>rs11570148</li><li>rs373496</li><li>rs11570147</li><li>rs11570146</li>	2
Q02224	1062		<li>F->L at 1535: in dbSNP:rs2615542</li><li>S->R at 1581: in dbSNP:rs35100664</li><li>E->D at 1925: in dbSNP:rs2306106</li><li>T->M at 2090: in dbSNP:rs2243682</li>									<li>rs2243682</li><li>rs2615542</li><li>rs35100664</li><li>rs2306106</li>	2
Q02241	9493		<li>F->L at 515: in dbSNP:rs17310879</li>									rs17310879	2
Q02246	6900		<li>A->T at 145: in dbSNP:rs2275697</li><li>P->L at 366: in dbSNP:rs2229866</li><li>R->W at 657: in dbSNP:rs2305276</li><li>V->I at 1024: in dbSNP:rs17416074</li>									<li>rs2229866</li><li>rs2305276</li><li>rs17416074</li><li>rs2275697</li>	2
Q02252	4329		<li>G->R at 446: in MMSDH deficiency, MIM: 603178</li>							<li>Q0WM29</li><li>Q07536</li><li>P42412</li><li>Q02253</li><li>Q7KW39</li><li>Q02252</li><li>P52713</li><li>P28810</li><li>Q7QC84</li>	Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]		2
Q02297	3084		<li>R->Q at 38: in dbSNP:rs3924999</li><li>M->T at 289: in dbSNP:rs10503929</li><li>M->K at 463</li>									<li>rs3924999</li><li>rs10503929</li>	2
Q02318	1593		<li>G->E at 145: in CTX, MIM: 213700</li><li>T->M at 175: in dbSNP:rs2229381, MIM: 213700</li><li>R->C at 395: in CTX, MIM: 213700</li><li>R->S at 395: in CTX, MIM: 213700</li><li>R->Q at 405: in CTX, MIM: 213700</li><li>R->Q at 474: in CTX, MIM: 213700</li><li>R->W at 474: in CTX, MIM: 213700</li><li>R->C at 479: in CTX, MIM: 213700</li>							<li>P41416</li><li>Q02454</li><li>P45639</li>	Cerebrotendinous xanthomatosis (CTX) [MIM:213700]	rs2229381	2
Q02383	6407		<li>Q->K at 43: in dbSNP:rs2233896</li><li>T->A at 57: in dbSNP:rs2233897</li><li>S->N at 274: in dbSNP:rs2233901</li><li>H->Y at 279: in dbSNP:rs2233903</li><li>G->R at 368: in dbSNP:rs2071650</li>									<li>rs2071650</li><li>rs2233903</li><li>rs2233901</li><li>rs2233897</li><li>rs2233896</li>	2
Q02386	7596		<li>A->T at 187: in dbSNP:rs1047452</li><li>R->K at 255: in dbSNP:rs399098</li><li>T->A at 299: in dbSNP:rs388706</li><li>P->R at 303: in dbSNP:rs388685</li><li>R->K at 504: in dbSNP:rs407731</li>									<li>rs388706</li><li>rs399098</li><li>rs388685</li><li>rs1047452</li><li>rs407731</li>	2
Q02388	1294		<li>T->P at 119: in a breast cancer sample; somatic mutation</li><li>K->R at 142: in DEB; recessive, MIM: 131750</li><li>V->F at 547: in dbSNP:rs2229823, MIM: 131750</li><li>P->L at 595: in DEB; recessive; dbSNP:rs2228561, MIM: 131750</li><li>R->K at 1120: in dbSNP:rs2228563, MIM: 131750</li><li>P->L at 1277: in DEB; recessive; dbSNP:rs35761247, MIM: 131750</li><li>G->R at 1347: in DEB; recessive; localized type; mild, MIM: 131750</li><li>P->T at 1364: in a breast cancer sample; somatic mutation, MIM: 131750</li><li>R->W at 1366: in a breast cancer sample; somatic mutation, MIM: 131750</li><li>G->D at 1519: in TBDN; compound heterozygous with E-2251; clinically silent when heterozygous with a normal allele, MIM: 131705</li><li>G->E at 1522: in DEB; dominant, MIM: 131750</li><li>G->R at 1557: in DEB; dominant, MIM: 131750</li><li>G->R at 1595: in isolated toenail dystrophy, MIM: 131750</li><li>G->R at 1604: in DEB; recessive, MIM: 131750</li><li>G->R at 1652: in DEB; recessive; mitis type, MIM: 131750</li><li>G->E at 1703: in DEB; recessive, MIM: 131750</li><li>R->W at 1772: in DEB; recessive, MIM: 131750</li><li>G->R at 1776: in DEB; dominant, MIM: 131750</li><li>G->R at 1782: in DEB; recessive; mitis type, MIM: 131750</li><li>G->E at 1791: in DEB and EBP, MIM: 604129</li><li>G->R at 1812: in DEB; recessive, MIM: 131750</li><li>G->R at 1815: in isolated toenail dystrophy, MIM: 131750</li><li>G->W at 1982: in HS-DEB, MIM: 226600</li><li>G->R at 2003: in DEB; dominant, MIM: 131750</li><li>G->A at 2006: in DEB; dominant, MIM: 131750</li><li>G->D at 2006: in DEB; dominant; interferes with collagen VII folding and secretion, MIM: 131750</li><li>R->C at 2008: in HS-DEB; also in a milder localized type, MIM: 226600</li><li>R->G at 2008: in HS-DEB, MIM: 226600</li><li>G->R at 2009: in DEB, MIM: 131750</li><li>G->E at 2015: in DEB; dominant; interferes with collagen VII folding and secretion, MIM: 131750</li><li>G->A at 2025: in DEB; recessive; mitis type, MIM: 131750</li><li>G->A at 2028: in DEB; dominant, MIM: 131750</li><li>G->R at 2028: in DEB and EBP, MIM: 604129</li><li>G->S at 2031: in DEB; recessive; severe phenotype, MIM: 131750</li><li>G->R at 2034: in DEB and EBDSC; dominant; interferes with collagen VII folding and secretion, MIM: 607600</li><li>G->W at 2034: in DEB; dominant, MIM: 131750</li><li>G->E at 2037: in P-DEB, MIM: 131750</li><li>G->D at 2040: in DEB; dominant, MIM: 131750</li><li>G->S at 2040: in P-DEB, MIM: 131750</li><li>G->V at 2040: in DEB; dominant, MIM: 131750</li><li>G->R at 2043: in DEB; dominant, MIM: 131750</li><li>G->W at 2043: in DEB; dominant; localized type, MIM: 131750</li><li>G->V at 2046: in DEB; dominant, MIM: 131750</li><li>G->E at 2049: in HS-DEB, MIM: 226600</li><li>G->E at 2055: in DEB; dominant, MIM: 131750</li><li>R->W at 2063: in HS-DEB; also in a mild form, MIM: 226600</li><li>G->R at 2064: in DEB; dominant, MIM: 131750</li><li>G->D at 2073: in DEB; recessive; mitis type, MIM: 131750</li><li>G->D at 2076: in DEB; recessive and dominant forms, MIM: 131750</li><li>G->E at 2079: in DEB; dominant, MIM: 131750</li><li>G->R at 2079: in DEB; dominant; associated with squamous cell carcinoma, MIM: 131750</li><li>G->D at 2132: in DEB; recessive, MIM: 131750</li><li>G->S at 2192: in DEB; recessive, MIM: 131750</li><li>G->R at 2207: in DEB; dominant, MIM: 131750</li><li>G->R at 2242: in DEB and EBP, MIM: 604129</li><li>G->E at 2251: in TBDN; compound heterozygous with D-1519; leads to isolated toenail dystrophy when heterozygous with a normal allele, MIM: 131705</li><li>G->V at 2263: in DEB; recessive, MIM: 131750</li><li>G->R at 2287: in DEB; moderately severe phenotype in combination with R-2316; leads to isolated toenail dystrophy when heterozygous with a normal allele, MIM: 131750</li><li>G->R at 2316: in DEB; moderately severe phenotype in combination with R-2287, MIM: 131750</li><li>G->R at 2348: in DEB; mild form, MIM: 131750</li><li>G->R at 2351: in DEB; mitis type; dbSNP:rs1800013, MIM: 131750</li><li>G->S at 2366: in DEB; recessive; mitis type, MIM: 131750</li><li>G->S at 2369: in DEB and EBP, MIM: 604129</li><li>P->L at 2429: in dbSNP:rs2229822, MIM: 604129</li><li>G->R at 2569: in DEB; recessive; severe and mitis type, MIM: 131750</li><li>G->R at 2575: in HS-DEB; also in a mild form, MIM: 226600</li><li>G->C at 2623: in PR-DEB; dominant, MIM: 131850</li><li>G->R at 2653: in DEB; recessive; mitis type, MIM: 131750</li><li>G->V at 2671: in DEB; recessive, MIM: 131750</li><li>G->D at 2674: in DEB; recessive, MIM: 131750</li><li>G->R at 2674: in DEB; recessive; mitis type, MIM: 131750</li><li>G->D at 2713: in DEB; dominant, MIM: 131750</li><li>G->R at 2713: in DEB and EBP, MIM: 604129</li><li>G->A at 2740: in DEB; recessive, MIM: 131750</li><li>G->R at 2749: in HS-DEB; also in a mild form, MIM: 226600</li><li>G->S at 2775: in DEB; recessive; mitis type, MIM: 131750</li><li>R->W at 2791: in DEB; dominant, MIM: 131750</li><li>M->K at 2798: in HS-DEB; also in a mild form; the anchoring fibrils may be absent, MIM: 226600</li>	secretion	GO:0046903			collagen	GO:0005581	<li>P16279</li><li>Q60490</li><li>P43084</li><li>Q15125</li>	<li>Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]</li><li>Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]</li><li>Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]</li><li>Transient bullous dermolysis of the newborn (TBDN) [MIM:131705]</li><li>Epidermolysis bullosa dystrophica pretibial type (PR-DEB) [MIM:131850]</li><li>Epidermolysis bullosa dystrophica Pasini type (P-DEB) [MIM:131750]</li><li>Epidermolysis bullosa dystrophica with subcorneal cleavage (EBDSC) [MIM:607600]</li>	<li>rs35761247</li><li>rs2229823</li><li>rs2229822</li><li>rs2228563</li><li>rs1800013</li><li>rs2228561</li>	2
Q02413	1828		<li>N->T at 493: in dbSNP:rs8091003</li><li>T->N at 498: in dbSNP:rs8091117</li><li>Y->F at 841: in dbSNP:rs3752095</li>									<li>rs8091117</li><li>rs3752095</li><li>rs8091003</li>	2
Q02446	6671		<li>Q->K at 197: in dbSNP:rs1042848</li>									rs1042848	2
Q02447	6670		<li>T->A at 164: in dbSNP:rs1047640</li>									rs1047640	2
Q02487	1824		<li>N->S at 11: in dbSNP:rs868333</li><li>I->V at 776: in dbSNP:rs1893963</li>									<li>rs868333</li><li>rs1893963</li>	2
Q02505			<li>A->V at 2338</li><li>H->N at 2517</li><li>H->Y at 2517: polymorphism; may be associated with Crohn disease</li>										2
Q02535	3399		<li>A->T at 105: in dbSNP:rs11574</li><li>S->A at 111: in dbSNP:rs11542317</li>									<li>rs11574</li><li>rs11542317</li>	2
Q02539	3024		<li>T->I at 99: in dbSNP:rs417751</li><li>S->F at 115: in dbSNP:rs34541321</li><li>K->R at 140: in dbSNP:rs16891235</li>									<li>rs417751</li><li>rs34541321</li><li>rs16891235</li>	2
Q02548	5079		<li>A->T at 322: in dbSNP:rs34810717</li>									rs34810717	2
Q02556	3394		<li>R->K at 81: in a breast cancer sample; somatic mutation</li><li>A->T at 197: in a breast cancer sample; somatic mutation</li>										2
Q02641	782		<li>P->L at 339: in a colorectal cancer sample; somatic mutation</li>										2
Q02643	2692		<li>A->T at 45: in a colorectal cancer sample; somatic mutation</li><li>A->T at 57: in dbSNP:rs4988496</li><li>E->D at 121: in dbSNP:rs4988498</li><li>L->H at 144: in IGHD IB, MIM: 262400</li><li>A->V at 176: in IGHD IB; reduced cAMP response to GHRH, MIM: 262400</li><li>A->E at 222: in IGHD IB, MIM: 262400</li><li>V->I at 225: in dbSNP:rs28371560, MIM: 262400</li><li>F->C at 242: in IGHD IB, MIM: 262400</li><li>K->E at 329: in IGHD IB, MIM: 262400</li><li>M->T at 422: in dbSNP:rs2228078, MIM: 262400</li>							<li>P09916</li><li>P07217</li><li>P41534</li><li>P48144</li><li>Q09169</li><li>P01287</li><li>P63292</li><li>P63293</li><li>P41585</li><li>P01286</li><li>P16043</li><li>Q60549</li><li>P42692</li><li>P01880</li>	Isolated growth hormone deficiency type IB (IGHD IB) [MIM:262400]	<li>rs2228078</li><li>rs28371560</li><li>rs4988496</li><li>rs4988498</li>	2
Q02742	2650		<li>I->V at 152: in dbSNP:rs2282683</li><li>S->C at 158: in dbSNP:rs11546569</li>									<li>rs11546569</li><li>rs2282683</li>	2
Q02763			<li>K->N at 117: in breast cancer samples; infiltrating ductal carcinoma; somatic mutation</li><li>I->T at 148: in dbSNP:rs35969327</li><li>A->V at 226: in dbSNP:rs35814893</li><li>Q->P at 346: in dbSNP:rs682632</li><li>T->I at 391: in dbSNP:rs34032300</li><li>V->I at 486: in dbSNP:rs1334811</li><li>V->L at 600: in dbSNP:rs35030851</li><li>L->F at 634: in dbSNP:rs35378598</li><li>V->I at 676: in dbSNP:rs56367117</li><li>A->T at 724: in dbSNP:rs4631561</li><li>R->W at 849: in VMCM; activating effect, MIM: 600195</li><li>P->A at 883: in an ovarian serous carcinoma sample; somatic mutation, MIM: 600195</li><li>Y->S at 897: in VMCM; activating effect, MIM: 600195</li><li>A->V at 1124: in a renal clear cell carcinoma sample; somatic mutation, MIM: 600195</li>								Dominantly inherited venous malformations (VMCM) [MIM:600195]	<li>rs35378598</li><li>rs1334811</li><li>rs34032300</li><li>rs4631561</li><li>rs56367117</li><li>rs35814893</li><li>rs35030851</li><li>rs682632</li><li>rs35969327</li>	2
Q02779	4294		<li>G->E at 107: in a metastatic melanoma sample; somatic mutation</li><li>P->Q at 168: in dbSNP:rs36102209</li>									rs36102209	2
Q02790	2288		<li>T->P at 436: in dbSNP:rs1042228</li>									rs1042228	2
Q02818	4924		<li>LP->S at 13-14</li><li>R->Q at 399</li>										2
Q02833	8045		<li>P->A at 89: in dbSNP:rs2242183</li><li>R->Q at 156: in dbSNP:rs2242182</li>									<li>rs2242183</li><li>rs2242182</li>	2
Q02846	3000		<li>A->S at 52: in LCA1; could be a rare polymorphism, MIM: 204000</li><li>C->Y at 105: in LCA1; does not affect basal activity; reduces GCAP-1 induced activity, MIM: 204000</li><li>L->P at 325: in LCA1; does not affect basal activity; reduces GCAP-1 induced activity, MIM: 204000</li><li>A->V at 328: in dbSNP rsrs56280231, MIM: 204000</li><li>R->S at 331: in dbSNP:rs34596269, MIM: 204000</li><li>A->S at 362: in LCA1, MIM: 204000</li><li>G->D at 431: in a metastatic melanoma sample; somatic mutation, MIM: 204000</li><li>V->M at 507, MIM: 204000</li><li>F->S at 565: in LCA1; loss of activity, MIM: 204000</li><li>I->V at 573: in LCA1, MIM: 204000</li><li>R->W at 602: in dbSNP:rs34331388, MIM: 204000</li><li>A->E at 693: in dbSNP rsrs35146471, MIM: 204000</li><li>P->S at 701: in LCA1; dbSNP:rs34598902, MIM: 204000</li><li>R->W at 722: in dbSNP:rs34331388, MIM: 204000</li><li>L->H at 782: rare polymorphism; dbSNP:rs8069344, MIM: 204000</li><li>ERT->DCM at 837-839: in CORD6, MIM: 204000</li><li>E->D at 837: in CORD6: in dbSNP rsrs28933695, MIM: 601777</li><li>R->C at 838: in CORD6, MIM: 601777</li><li>R->H at 838: in CORD6, MIM: 601777</li><li>P->S at 858: in LCA1; severely impairs basal and GCAP-1 induced activity, MIM: 204000</li><li>L->P at 954: in LCA1; severely impairs basal and GCAP-1 induced activity, MIM: 204000</li>							<li>Q02846</li><li>Q42883</li><li>O73761</li><li>P43080</li><li>P43081</li><li>P79880</li><li>P46065</li>	<li>Cone-rod dystrophy type 6 (CORD6) [MIM:601777]</li><li>Leber congenital amaurosis type 1 (LCA1) [MIM:204000]</li>	<li>rs28933695</li><li>rs8069344</li><li>rs56280231</li><li>rs35146471</li><li>rs34596269</li><li>rs34598902</li><li>rs34331388</li>	2
Q02878	6128		<li>K->Q at 100: in a colorectal cancer sample; somatic mutation</li><li>H->R at 227: in dbSNP:rs17851813</li><li>K->E at 237: in dbSNP:rs16942044</li>									<li>rs16942044</li><li>rs17851813</li>	2
Q02952	9590		<li>E->K at 117: in dbSNP:rs10872670</li><li>K->Q at 216: in dbSNP:rs3734799</li><li>E->K at 240: in a colorectal cancer sample; somatic mutation</li><li>E->G at 920: in dbSNP:rs13212161</li><li>V->I at 1096: in dbSNP:rs3734797</li><li>R->L at 1296: in dbSNP:rs9478198</li><li>E->K at 1355: in dbSNP:rs12201388</li><li>E->D at 1600: in dbSNP:rs3823310</li><li>E->D at 1689: in dbSNP:rs3734795</li>									<li>rs3734795</li><li>rs9478198</li><li>rs10872670</li><li>rs3734797</li><li>rs13212161</li><li>rs3823310</li><li>rs12201388</li><li>rs3734799</li>	2
Q02962	5076		<li>Missing  at 39-40: in OMN; with bilateral coloboma</li><li>T->TET at 75: in RCS</li><li>G->S at 76: in RCS, MIM: 120330</li><li>A->V at 334, MIM: 120330</li>								Renal-coloboma syndrome (RCS) [MIM:120330]		2
Q02985	10878		<li>H->Y at 71: in dbSNP:rs17575274</li>									rs17575274	2
Q03001	667		<li>K->N at 1319: in dbSNP:rs35014998</li>									rs35014998	2
Q03013	2948		<li>S->P at 2: in dbSNP:rs3211190</li><li>A->V at 160: in dbSNP:rs17838158</li><li>L->V at 208: in dbSNP:rs2229052</li><li>Y->F at 209: in dbSNP:rs2229053</li><li>R->K at 211: in dbSNP:rs2229054</li><li>V->M at 212: in dbSNP:rs1051113</li>									<li>rs1051113</li><li>rs3211190</li><li>rs2229054</li><li>rs2229053</li><li>rs2229052</li><li>rs17838158</li>	2
Q03113	2768		<li>F->L at 242: in dbSNP:rs45606633</li><li>Y->H at 330: in dbSNP:rs45583847</li>									<li>rs45583847</li><li>rs45606633</li>	2
Q03135	857		<li>P->L at 132: in breast cancer; seems to form misfolded oligomers that are retained within the Golgi complex and are not targeted to caveolae or the plasma membrane</li>					<li>Golgi complex</li><li>plasma membrane</li><li>caveolae</li>	<li>GO:0005794</li><li>GO:0005886</li><li>GO:0005901</li>				2
Q03154	95		<li>N->S at 179: in dbSNP:rs887540</li><li>R->W at 197: in ACY1D, MIM: 609924</li><li>E->D at 233: in ACY1D, MIM: 609924</li><li>R->C at 353: in ACY1D, MIM: 609924</li><li>E->D at 381: in a breast cancer sample; somatic mutation, MIM: 609924</li><li>R->C at 386: in dbSNP:rs2229152, MIM: 609924</li><li>R->H at 393: in ACY1D, MIM: 609924</li>								Aminoacylase-1 deficiency (ACY1D) [MIM:609924]	<li>rs2229152</li><li>rs887540</li>	2
Q03164	4297		<li>A->G at 30: in dbSNP:rs9332745</li><li>A->V at 53: in dbSNP:rs9332747</li><li>E->K at 502: in dbSNP:rs9332772</li><li>Q->P at 1975: in dbSNP:rs693598</li><li>S->T at 2319: in dbSNP:rs9332837</li><li>P->R at 2354: in dbSNP:rs9332838</li><li>Q->R at 2387: in dbSNP:rs9332839</li><li>V->I at 3714: in dbSNP:rs9332859</li><li>S->A at 3773: in dbSNP:rs9332861</li>									<li>rs9332859</li><li>rs9332839</li><li>rs9332747</li><li>rs9332838</li><li>rs9332837</li><li>rs9332745</li><li>rs9332861</li><li>rs9332772</li><li>rs693598</li>	2
Q03167	7049		<li>S->N at 14: in dbSNP rsrs17884205</li><li>S->F at 15: in dbSNP:rs1805110</li><li>W->L at 163: in dbSNP rsrs17885124</li><li>N->NA at 358</li><li>A->T at 634: in dbSNP rsrs17882578</li><li>G->R at 764: in dbSNP rsrs17882828</li>									<li>rs17882828</li><li>rs1805110</li><li>rs17884205</li><li>rs17885124</li><li>rs17882578</li>	2
Q03169	7127		<li>A->AA at 110</li><li>Q->E at 282: in dbSNP:rs1132339</li><li>T->I at 565: in dbSNP:rs2229727</li><li>T->M at 580: in dbSNP:rs2234146</li>									<li>rs2229727</li><li>rs2234146</li><li>rs1132339</li>	2
Q03252	84823		<li>R->Q at 215: in APL: in dbSNP rsrs61726481, MIM: 608709</li><li>R->W at 216: in a colorectal cancer sample; somatic mutation, MIM: 608709</li><li>A->T at 407: in APL: in dbSNP rsrs57521499, MIM: 608709</li>								Partial acquired lipodystrophy (APL) [MIM:608709]	<li>rs61726481</li><li>rs57521499</li>	2
Q03395	6094		<li>R->H at 16</li><li>P->T at 60</li><li>G->D at 75</li><li>T->M at 108</li><li>G->A at 118: in dbSNP:rs1799959</li><li>R->H at 229</li><li>R->Q at 242</li><li>A->T at 265</li><li>M->T at 271</li>									rs1799959	2
Q03403	7032		<li>R->W at 3: in dbSNP:rs7277409</li>									rs7277409	2
Q03405	5329		<li>E->G at 55: in dbSNP:rs4251813</li><li>T->A at 86: in dbSNP:rs399145</li><li>R->Q at 105: in dbSNP:rs4251878</li><li>K->R at 220: in dbSNP:rs2302524</li><li>N->K at 281: in dbSNP:rs4251921</li><li>D->A at 297: in dbSNP:rs16976608</li><li>L->P at 317: in dbSNP:rs4760</li>									<li>rs4251878</li><li>rs4760</li><li>rs2302524</li><li>rs399145</li><li>rs16976608</li><li>rs4251921</li><li>rs4251813</li>	2
Q03426	4598		<li>H->N at 20: in HIDS: in dbSNP rsrs11544299, MIM: 260920</li><li>H->P at 20: in HIDS and mevalonic aciduria, MIM: 610377</li><li>H->Q at 20: in HIDS, MIM: 260920</li><li>L->P at 39: in HIDS, MIM: 260920</li><li>S->N at 52: in dbSNP:rs7957619, MIM: 260920</li><li>V->I at 132: in HIDS, MIM: 260920</li><li>S->L at 135: in HIDS, MIM: 260920</li><li>A->T at 148: in HIDS, MIM: 260920</li><li>S->L at 150: in HIDS, MIM: 260920</li><li>P->L at 167: in HIDS, MIM: 260920</li><li>G->R at 171: in HIDS, MIM: 260920</li><li>G->R at 202: in HIDS, MIM: 260920</li><li>G->E at 211: in HIDS, MIM: 260920</li><li>R->Q at 215: in HIDS, MIM: 260920</li><li>T->I at 243: in mevalonic aciduria, MIM: 610377</li><li>V->I at 250: in HIDS, MIM: 260920</li><li>L->F at 264: in mevalonic aciduria, MIM: 610377</li><li>L->P at 265: in mevalonic aciduria, MIM: 610377</li><li>L->R at 265: in HIDS, MIM: 260920</li><li>I->T at 268: in HIDS and mevalonic aciduria, MIM: 610377</li><li>N->T at 301: in mevalonic aciduria; diminished activity: in dbSNP rsrs28934896, MIM: 610377</li><li>G->S at 309: in HIDS, MIM: 260920</li><li>V->M at 310: in mevalonic aciduria and HIDS, MIM: 610377</li><li>G->R at 326: in HIDS, MIM: 260920</li><li>A->T at 334: in mevalonic aciduria, MIM: 610377</li><li>G->S at 335: in dbSNP:rs11614976, MIM: 610377</li><li>T->M at 356, MIM: 610377</li><li>G->V at 376: in HIDS, MIM: 260920</li><li>V->I at 377: in HIDS; most frequent mutation: in dbSNP rsrs28934897, MIM: 260920</li>								<li>Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]</li><li>Mevalonic aciduria [MIM:610377]</li>	<li>rs11614976</li><li>rs28934897</li><li>rs28934896</li><li>rs7957619</li><li>rs11544299</li>	2
Q03431	5745		<li>P->L at 132: in BOCD, MIM: 215045</li><li>R->C at 150: in enchondromatosis; Ollier type; may be specific to the Canadian population; unclear pathogenicity, MIM: 166000</li><li>H->R at 223: in JMC; constitutively activated, MIM: 156400</li><li>T->P at 410: in JMC; constitutively activated, MIM: 156400</li><li>T->R at 410: in JMC; leads to agonist-independent cAMP formation which is less pronounced than that observed with the Pro-410 mutant, MIM: 156400</li><li>I->R at 458: in JMC, MIM: 156400</li>								<li>Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400]</li><li>Enchondromatosis [MIM:166000]</li><li>Chondrodysplasia Blomstrand type (BOCD) [MIM:215045]</li>		2
Q03468	2074		<li>R->W at 134</li><li>K->T at 255</li><li>G->D at 399: in dbSNP:rs2228528</li><li>D->A at 425: in dbSNP:rs4253046</li><li>G->D at 446: in dbSNP:rs4253047</li><li>P->A at 591: in a colorectal cancer sample; somatic mutation</li><li>R->L at 652: in a colorectal cancer sample; somatic mutation</li><li>R->W at 670: in CSB, MIM: 133540</li><li>W->R at 851: in CSB, MIM: 133540</li><li>T->M at 942: in dbSNP:rs2228525, MIM: 133540</li><li>V->G at 957: in CSB, MIM: 133540</li><li>Y->C at 1002: in dbSNP:rs4253206, MIM: 133540</li><li>R->T at 1038: in a breast cancer sample; somatic mutation, MIM: 133540</li><li>P->L at 1042: in CSB, MIM: 133540</li><li>P->R at 1095: in dbSNP:rs4253208, MIM: 133540</li><li>M->V at 1097: in dbSNP:rs2228526, MIM: 133540</li><li>E->Q at 1119: in a breast cancer sample; somatic mutation, MIM: 133540</li><li>E->V at 1119: in a breast cancer sample; somatic mutation, MIM: 133540</li><li>R->G at 1213: in dbSNP:rs2228527, MIM: 133540</li><li>T->I at 1220: in dbSNP:rs34704611, MIM: 133540</li><li>R->P at 1230: in dbSNP:rs4253211, MIM: 133540</li><li>V->L at 1308: in dbSNP:rs2229761, MIM: 133540</li><li>G->V at 1322: in dbSNP:rs4253219, MIM: 133540</li><li>D->E at 1355: in dbSNP:rs34917815, MIM: 133540</li><li>G->R at 1372: in dbSNP:rs4253227, MIM: 133540</li><li>G->R at 1382: in dbSNP:rs4253228, MIM: 133540</li><li>G->R at 1410: in dbSNP:rs4253229, MIM: 133540</li><li>Q->R at 1413: in dbSNP:rs2228529, MIM: 133540</li><li>T->I at 1441: in dbSNP:rs4253230, MIM: 133540</li>							Q03468	Cockayne syndrome type B (CSB) [MIM:133540]	<li>rs4253229</li><li>rs4253230</li><li>rs4253206</li><li>rs4253219</li><li>rs2229761</li><li>rs4253208</li><li>rs4253227</li><li>rs4253228</li><li>rs4253047</li><li>rs2228525</li><li>rs2228526</li><li>rs4253046</li><li>rs2228527</li><li>rs4253211</li><li>rs2228528</li><li>rs2228529</li><li>rs34704611</li><li>rs34917815</li>	2
Q03518	6890		<li>P->S at 67</li><li>G->R at 77: in dbSNP rsrs57640466</li><li>L->V at 170: in dbSNP:rs2228108</li><li>S->F at 346: in dbSNP:rs2228111</li><li>I->V at 393: in allele TAP1*0201, allele TAP1*0301, allele TAP1*0401 and allele TAP1*x; dbSNP:rs1057141</li><li>A->V at 430: in allele TAP1*x; dbSNP:rs2127679</li><li>G->C at 479: in dbSNP:rs2228110</li><li>V->L at 518: in allele TAP1*0401: in dbSNP rsrs41550019</li><li>V->I at 578: in allele TAP1*x: in dbSNP rsrs41561219</li><li>D->G at 697: in allele TAP1*0201, allele TAP1*0401 and allele TAP1*x; dbSNP:rs1135216</li><li>R->Q at 708: in allele TAP1*0401; dbSNP:rs1057149</li><li>R->Q at 719: in a lung cancer cell line deficient in MHC class I presentation</li><li>Q->R at 768: in dbSNP:rs1057149</li>							<li>Q02792</li><li>P15003</li><li>Q04189</li><li>Q28433</li><li>P38085</li><li>Q03518</li>		<li>rs2228108</li><li>rs41561219</li><li>rs1057149</li><li>rs41550019</li><li>rs1135216</li><li>rs2228110</li><li>rs2127679</li><li>rs2228111</li><li>rs1057141</li><li>rs57640466</li>	2
Q03519			<li>R->K at 56: in dbSNP:rs17220192</li><li>A->T at 374: in allele TAP2*01F, allele TAP2*01G, allele TAP2*01H, allele TAP2*02B and allele TAP2*02D</li><li>V->I at 379: in allele TAP2*01D, allele TAP2*01E, allele TAP2*01G, allele TAP2*02C and allele TAP2*02F; dbSNP:rs1800454</li><li>V->I at 467: in allele TAP2*01F and allele TAP2*02D</li><li>A->S at 513: rare polymorphism</li><li>A->T at 565: in allele TAP2*0102, allele TAP2*01D, allele TAP2*02E and allele TAP2*02F</li><li>M->V at 577: in allele TAP2*BKY2; dbSNP:rs2228391</li><li>R->C at 651: in allele TAP2*0103 and allele TAP2*01G</li><li>T->A at 665: in allele TAP2*0201, allele TAP2*02B, allele TAP2*02C, allele TAP2*02D, allele TAP2*02E, allele TAP2*02F, allele TAP2*04A and allele TAP2*Bky2; dbSNP:rs241447</li><li>L->LQEGQDLYSRLV at 686: in allele TAP2*0201, allele TAP2*02B, allele TAP2*02C, allele TAP2*02D, allele TAP2*02E, allele TAP2*02F, allele TAP2*03A and allele TAP2*BKY2</li>							<li>P24609</li><li>Q03519</li><li>P15004</li><li>P38967</li><li>Q9UDX4</li>		rs17220192	2
Q03591	3078		<li>H->Y at 157: in dbSNP:rs425757</li><li>L->V at 159</li><li>E->Q at 175: in dbSNP rsrs388862</li><li>A->V at 296: in dbSNP:rs16840561</li>									<li>rs16840561</li><li>rs388862</li><li>rs425757</li>	2
Q03692	1300		<li>G->E at 18: in SMCD, MIM: 156500</li><li>G->R at 18: in SMCD, MIM: 156500</li><li>M->T at 27: in dbSNP:rs1064583, MIM: 156500</li><li>G->R at 98: in dbSNP:rs2243370, MIM: 156500</li><li>R->H at 198, MIM: 156500</li><li>G->R at 545: in dbSNP:rs2228547, MIM: 156500</li><li>Y->D at 582: in SMCD, MIM: 156500</li><li>C->R at 591: in SMCD, MIM: 156500</li><li>G->E at 595: in SMCD and spondylometaphyseal dysplasia Japanese type, MIM: 156500</li><li>G->R at 595: in SMCD, MIM: 156500</li><li>Y->C at 597: in SMCD, MIM: 156500</li><li>Y->H at 597: in SMCD, MIM: 156500</li><li>Y->D at 598: in SMCD, MIM: 156500</li><li>S->P at 600: in SMCD, MIM: 156500</li><li>V->M at 603, MIM: 156500</li><li>L->P at 614: in SMCD, MIM: 156500</li><li>N->K at 617: in SMCD, MIM: 156500</li><li>G->V at 618: in SMCD, MIM: 156500</li><li>L->R at 644: in SMCD, MIM: 156500</li><li>D->G at 648: in SMCD, MIM: 156500</li><li>W->R at 651: in SMCD, MIM: 156500</li><li>Q->P at 653: in SMCD, MIM: 156500</li><li>S->P at 671: in SMCD, MIM: 156500</li>								Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	<li>rs1064583</li><li>rs2243370</li><li>rs2228547</li>	2
Q03701	10153		<li>P->S at 15: in dbSNP:rs3213746</li><li>I->V at 102: in dbSNP:rs2098386</li><li>K->R at 303: in dbSNP:rs17020328</li>									<li>rs3213746</li><li>rs17020328</li><li>rs2098386</li>	2
Q03923	7639		<li>K->T at 60: in dbSNP:rs7254311</li><li>G->R at 184: in dbSNP:rs11665978</li><li>T->A at 266: in dbSNP:rs1063156</li><li>F->S at 270: in dbSNP:rs11670246</li>									<li>rs1063156</li><li>rs11665978</li><li>rs7254311</li><li>rs11670246</li>	2
Q03936	168374		<li>A->V at 122: in dbSNP:rs10265083</li><li>Q->R at 492: in dbSNP:rs17853615</li><li>R->H at 527: in dbSNP:rs10239197</li>									<li>rs17853615</li><li>rs10265083</li><li>rs10239197</li>	2
Q04118			<li>P->C at 53: in Gl-8; requires 2 nucleotide substitutions</li><li>Missing  at 158-220: in allele S</li><li>P->Q at 186: in dbSNP:rs11054208</li>									rs11054208	2
Q04446	2632		<li>R->G at 190: in dbSNP:rs2229519</li><li>L->P at 224: in GSD4; loss of activity, MIM: 232500</li><li>F->L at 257: in GSD4; loss of activity, MIM: 232500</li><li>T->S at 265: in dbSNP:rs17856389, MIM: 232500</li><li>Y->S at 329: in GSD4; non-progressive form; 50% residual activity, MIM: 232500</li><li>V->I at 334: in dbSNP:rs2172397, MIM: 232500</li><li>T->A at 507: in dbSNP:rs2228389, MIM: 232500</li><li>R->C at 515: in GSD4; loss of activity, MIM: 232500</li><li>R->H at 515: in APBD, MIM: 263570</li><li>R->Q at 524: in GSD4 and APBD, MIM: 232500</li><li>H->R at 545: in GSD4, MIM: 232500</li><li>H->R at 628: in GSD4; childhood neuromuscular form; 15 to 25% residual activity, MIM: 232500</li>								<li>Adult polyglucosan body disease (APBD) [MIM:263570]</li><li>Glycogen storage disease type 4 (GSD4) [MIM:232500]</li>	<li>rs17856389</li><li>rs2228389</li><li>rs2229519</li><li>rs2172397</li>	2
Q04671	4948		<li>R->W at 10: in OCA2, MIM: 203200</li><li>G->R at 27: in OCA2, MIM: 203200</li><li>S->R at 86: in OCA2, MIM: 203200</li><li>C->F at 112: in OCA2, MIM: 203200</li><li>P->L at 198: in OCA2, MIM: 203200</li><li>Missing  at 206-211: in OCA2; severe, MIM: 203200</li><li>P->L at 211: in OCA2, MIM: 203200</li><li>P->R at 241: in dbSNP:rs2305253, MIM: 203200</li><li>A->D at 257: in dbSNP:rs1050968, MIM: 203200</li><li>R->W at 266: in dbSNP:rs33929465, MIM: 203200</li><li>NW->KV at 273-274: in OCA2, MIM: 203200</li><li>R->G at 290: in OCA2, MIM: 203200</li><li>R->W at 305: polymorphism associated with nonblue eye color; could be a biomarker of cutaneous cancer risk; dbSNP:rs1800401, MIM: 203200</li><li>A->V at 334: in OCA2, MIM: 203200</li><li>A->V at 336: in dbSNP:rs34010619, MIM: 203200</li><li>V->M at 350: in unclassified OCA, MIM: 203200</li><li>A->V at 368: in OCA2, MIM: 203200</li><li>I->T at 370: in unclassified OCA; dbSNP:rs34731820, MIM: 203200</li><li>F->I at 385: in OCA2; severe, MIM: 203200</li><li>T->M at 387, MIM: 203200</li><li>M->I at 394: in OCA2, MIM: 203200</li><li>M->L at 395: in OCA2; severe, MIM: 203200</li><li>T->M at 404: in OCA2, MIM: 203200</li><li>R->Q at 419: polymorphism associated with green/hazel eye color; dbSNP:rs1800407, MIM: 203200</li><li>R->W at 419: in OCA2, MIM: 203200</li><li>Missing  at 425: in OCA2; mild, MIM: 203200</li><li>L->F at 440: in dbSNP:rs1800408, MIM: 203200</li><li>L->H at 440, MIM: 203200</li><li>V->I at 443: in OCA2: in dbSNP rsrs28934272, MIM: 203200</li><li>M->V at 446: in OCA2; mild; AROA form, MIM: 203200</li><li>I->S at 473: in OCA2, MIM: 203200</li><li>N->D at 476: in OCA2, MIM: 203200</li><li>A->T at 481: in OCA2, MIM: 203200</li><li>N->D at 489: in OCA2; mild/severe, MIM: 203200</li><li>V->A at 519: in dbSNP:rs41446944, MIM: 203200</li><li>H->Q at 549: in OCA2, MIM: 203200</li><li>R->H at 560: in dbSNP:rs35110389, MIM: 203200</li><li>T->I at 592: in OCA2; dbSNP:rs1800413, MIM: 203200</li><li>K->E at 614: in OCA2, MIM: 203200</li><li>K->N at 614: in OCA2, MIM: 203200</li><li>H->R at 615: in dbSNP:rs1800414, MIM: 203200</li><li>I->L at 617: in OCA2, MIM: 203200</li><li>W->R at 652: in OCA2, MIM: 203200</li><li>E->K at 678: in unclassified OCA, MIM: 203200</li><li>W->C at 679: in OCA2, MIM: 203200</li><li>W->R at 679: in OCA2; severe, MIM: 203200</li><li>L->F at 688: in unclassified OCA, MIM: 203200</li><li>R->C at 720: in OCA2, MIM: 203200</li><li>I->T at 722: in dbSNP:rs1800417, MIM: 203200</li><li>A->P at 724: in OCA2, MIM: 203200</li><li>S->L at 736: in OCA2, MIM: 203200</li><li>P->L at 743: in OCA2 and unclassified OCA, MIM: 203200</li><li>A->T at 773: in a breast cancer sample; somatic mutation, MIM: 203200</li><li>G->R at 775: in OCA2, MIM: 203200</li><li>A->V at 787: in OCA2, MIM: 203200</li><li>G->R at 795: in OCA2, MIM: 203200</li><li>Q->H at 799: in OCA2, MIM: 203200</li><li>Y->H at 827: in OCA2, MIM: 203200</li><li>Missing  at 833: in OCA2, MIM: 203200</li>							Q04671	Oculocutaneous albinism type 2 (OCA2) [MIM:203200]	<li>rs1800408</li><li>rs2305253</li><li>rs1800417</li><li>rs1050968</li><li>rs34731820</li><li>rs1800407</li><li>rs34010619</li><li>rs35110389</li><li>rs33929465</li><li>rs28934272</li><li>rs1800401</li><li>rs1800414</li><li>rs41446944</li><li>rs1800413</li>	2
Q04721	4853		<li>C->Y at 444: in ALGS2, MIM: 610205</li><li>V->F at 1667: in dbSNP:rs17024517, MIM: 610205</li>								Alagille syndrome type 2 (ALGS2) [MIM:610205]	rs17024517	2
Q04726	7090		<li>A->V at 229: in dbSNP:rs1057864</li>									rs1057864	2
Q04756	3083		<li>A->S at 218: in dbSNP:rs3748034</li><li>V->M at 225: in dbSNP:rs16844370</li><li>F->L at 231: in dbSNP:rs1987546</li><li>R->H at 509: in dbSNP:rs16844401</li><li>R->Q at 644: in dbSNP:rs2498323</li>									<li>rs3748034</li><li>rs1987546</li><li>rs16844401</li><li>rs2498323</li><li>rs16844370</li>	2
Q04760	2739		<li>C->Y at 19: in dbSNP:rs17855424</li><li>E->A at 111: in dbSNP:rs4746</li>									<li>rs4746</li><li>rs17855424</li>	2
Q04771	90		<li>A->G at 15: in dbSNP:rs13406336</li><li>S->F at 41: in dbSNP rsrs55957214</li><li>H->Q at 47: in dbSNP rsrs34056189</li><li>P->S at 115: in a melanoma sample; somatic mutation</li><li>R->H at 206: in FOP, MIM: 135100</li>							O95684	Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	<li>rs34056189</li><li>rs55957214</li><li>rs13406336</li>	2
Q04826			<li>L->V at 9: in allele B*4001</li><li>WG->SA at 14-15: in allele B*4001</li><li>V->L at 17: in allele B*4001</li><li>SV->AM at 35-36: in allele B*4001 and allele B*4016</li><li>E->N at 87: in allele B*4008; requires 2 nucleotide substitutions</li><li>S->F at 91: in allele B*4008</li><li>TL->II at 118-119: in allele B*4003</li><li>L->W at 119: in allele B*4006</li><li>S->R at 121: in allele B*4001 and allele B*4003</li><li>S->T at 121: in allele B*4006</li><li>V->L at 127: in allele B*4003</li><li>H->Y at 137: in allele B*4009</li><li>N->D at 138: in allele B*4004 and allele B*4009</li><li>Y->N at 140: in allele B*4027</li><li>Y->S at 140: in allele B*4004</li><li>T->S at 167: in allele B*4001</li><li>W->L at 171: in allele B*4001</li><li>V->E at 176: in allele B*4005 and allele B*4016</li><li>L->R at 180: in allele B*4016</li><li>E->L at 187: in allele B*4005; requires 2 nucleotide substitutions</li><li>ET->DK at 201-202: in allele B*4001 and allele B*4016</li><li>Q->E at 204: in allele B*4001 and allele B*4016</li>										2
Q04844	1145		<li>G->R at 13: in FCCMS; impaired association with alpha CHRNA1 subunit of AChR, MIM: 608930</li><li>G->V at 18: in dbSNP:rs4790235, MIM: 608930</li><li>L->P at 98: in SCCMS; rare example of recessive inheritance: in dbSNP rsrs28929768, MIM: 601462</li><li>P->L at 141: in FCCMS; marked decrease in rate of AChR channel opening; reduction in frequency of open channel state and resistance to desensitization by ACh, MIM: 608930</li><li>S->L at 163: in FCCMS; fails to assemble with alpha CHRNA1 subunit of AChR, MIM: 608930</li><li>R->L at 167: in ACHRDCMS; significantly reduced AChR expression, MIM: 608931</li><li>L->F at 241: in SCCMS; mild form with variable penetrance: in dbSNP rsrs28999110, MIM: 601462</li><li>P->L at 265: in ACHRDCMS; prolongs burst open duration 2-fold by slowing the rate of channel closing, MIM: 608931</li><li>T->P at 284: in SCCMS; markedly prolonged channel openings in presence of agonist; as well as opening in the absence of agonist, MIM: 601462</li><li>L->F at 289: in SCCMS; slows rate of AChR channel closure and increases apparent affinity for ACh; causes pathologic channel openings even in the absence of ACh resulting in a leaky channel, MIM: 601462</li><li>R->W at 331: in ACHRDCMS; shortens burst duration 2-fold by slowing the rate of channel opening and speeding the rate of ACh dissociation; has a mild fast-channel kinetic effect on the AChR by shortening the long burst and increasing the decay of the endplate current, MIM: 608931</li><li>A->P at 431: in FCCMS; causes an increase in distributions of rates for channel opening and closing increasing the range of activation kinetics, MIM: 608930</li>							<li>P54251</li><li>P54250</li><li>P54249</li><li>P09688</li><li>P14144</li><li>P02708</li><li>P14143</li><li>P02709</li><li>P54248</li><li>P02711</li><li>P02710</li><li>P09479</li>	<li>Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]</li><li>Congenital myasthenic syndrome with acetylcholine receptor deficiency (ACHRDCMS) [MIM:608931]</li><li>Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]</li>	<li>rs28999110</li><li>rs28929768</li><li>rs4790235</li>	2
Q04912	4486		<li>R->S at 75: in dbSNP rsrs35887539</li><li>P->T at 95: in dbSNP rsrs55908300</li><li>R->C at 185: in dbSNP rsrs55633379</li><li>Q->R at 322: in dbSNP rsrs2230593</li><li>G->D at 356: in dbSNP rsrs35924402</li><li>S->L at 434: in dbSNP:rs2230591</li><li>N->S at 440: in dbSNP:rs2230592</li><li>G->D at 465: in dbSNP rsrs34564898</li><li>R->C at 504: in dbSNP rsrs34350470</li><li>R->Q at 523: in dbSNP rsrs2230590</li><li>Q->P at 613: in dbSNP rsrs35986685</li><li>V->M at 900: in dbSNP rsrs56091918</li><li>R->G at 1304</li><li>R->G at 1335: in dbSNP:rs1062633</li><li>Y->C at 1360: in dbSNP rsrs56330223</li>									<li>rs56330223</li><li>rs2230591</li><li>rs34350470</li><li>rs2230590</li><li>rs56091918</li><li>rs35924402</li><li>rs2230592</li><li>rs2230593</li><li>rs55633379</li><li>rs35986685</li><li>rs35887539</li><li>rs55908300</li><li>rs1062633</li><li>rs34564898</li>	2
Q04941	5355		<li>A->S at 91: in dbSNP:rs1802969</li>									rs1802969	2
Q05086	7337		<li>C->Y at 44: probable polymorphism</li><li>R->H at 62</li><li>A->T at 201</li><li>V->G at 290: in dbSNP:rs1059383</li><li>S->P at 372</li><li>I->II at 826: in AS</li>									rs1059383	2
Q05193	1759		<li>D->N at 744: in dbSNP:rs1042007</li>									rs1042007	2
Q05209	5782		<li>K->R at 61: in colon cancer</li><li>I->V at 322: in dbSNP:rs9640663</li><li>T->A at 573: in dbSNP:rs3750050</li>									<li>rs3750050</li><li>rs9640663</li>	2
Q05315	1178		<li>V->A at 28: in dbSNP:rs17608</li>									rs17608	2
Q05329	2572		<li>G->R at 12: in dbSNP:rs8190591</li><li>K->N at 124: in dbSNP:rs8190600</li><li>P->Q at 153: in dbSNP:rs2839672</li><li>G->E at 232: in dbSNP:rs2839673</li><li>K->R at 286: in dbSNP:rs8190671</li><li>G->A at 326: in dbSNP:rs2839678</li><li>R->Q at 375: in dbSNP:rs8190730</li>									<li>rs2839678</li><li>rs8190730</li><li>rs8190591</li><li>rs8190671</li><li>rs8190600</li><li>rs2839672</li><li>rs2839673</li>	2
Q05469	3991		<li>Y->H at 100: in dbSNP:rs16975750</li><li>Q->H at 127: in dbSNP:rs34080774</li><li>P->Q at 146: in a breast cancer sample; somatic mutation</li><li>P->S at 146: in dbSNP:rs34348028</li><li>S->T at 177: in dbSNP:rs16975748</li><li>A->V at 194: in dbSNP rsrs34996020</li><li>R->Q at 217: in dbSNP rsrs3745238</li><li>K->N at 497: in dbSNP rsrs35938529</li><li>N->H at 499: in dbSNP:rs33921216</li><li>R->S at 938: in dbSNP:rs7246232</li>									<li>rs16975750</li><li>rs35938529</li><li>rs3745238</li><li>rs16975748</li><li>rs34348028</li><li>rs7246232</li><li>rs34080774</li><li>rs34996020</li><li>rs33921216</li>	2
Q05586	2902		<li>I->M at 540: in dbSNP:rs3181457</li>									rs3181457	2
Q05655	5580		<li>N->S at 348: in dbSNP:rs33911937</li><li>F->S at 375: in dbSNP:rs1056998</li><li>L->F at 410: in dbSNP:rs34502209</li><li>R->W at 483: in dbSNP:rs35891605</li><li>M->V at 494</li><li>V->M at 593</li>									<li>rs33911937</li><li>rs1056998</li><li>rs34502209</li><li>rs35891605</li>	2
Q05707	7373		<li>N->H at 563: in dbSNP:rs4870723</li><li>P->L at 855: in dbSNP:rs2305606</li><li>V->I at 922: in dbSNP:rs11774228</li><li>V->L at 1342: in dbSNP:rs17833992</li>									<li>rs17833992</li><li>rs11774228</li><li>rs2305606</li><li>rs4870723</li>	2
Q05901	1142		<li>K->E at 451: in dbSNP:rs35327613</li>									rs35327613	2
Q05932	2356		<li>V->D at 437: in dbSNP:rs12686275</li><li>A->V at 489: in dbSNP:rs17855900</li><li>S->T at 528: in dbSNP:rs34354111</li>									<li>rs17855900</li><li>rs12686275</li><li>rs34354111</li>	2
Q05952	7142		<li>R->W at 131: in dbSNP:rs11640138</li>									rs11640138	2
Q05996	7783		<li>G->V at 36: in dbSNP:rs2075520</li>									rs2075520	2
Q05BV3	161436		<li>I->V at 269: in dbSNP:rs17188228</li>									rs17188228	2
Q05C16			<li>M->V at 137: in dbSNP:rs7338697</li><li>M->V at 206: in dbSNP:rs6561303</li><li>K->R at 281: in dbSNP:rs12865423</li><li>T->A at 282: in dbSNP:rs12865424</li>									<li>rs7338697</li><li>rs6561303</li><li>rs12865423</li><li>rs12865424</li>	2
Q05D32	51496		<li>A->V at 244: in dbSNP:rs871923</li>									rs871923	2
Q05D60	159989		<li>S->F at 175: in dbSNP:rs34205920</li><li>E->Q at 440: in dbSNP:rs12288277</li><li>Q->K at 504: in dbSNP:rs2259633</li>									<li>rs2259633</li><li>rs34205920</li><li>rs12288277</li>	2
Q06033	3699		<li>Q->K at 315: in dbSNP:rs3617</li><li>T->M at 340: in dbSNP:rs35271262</li><li>T->A at 751: in dbSNP:rs9883888</li><li>R->Q at 825: in dbSNP:rs2710330</li><li>A->V at 858: in dbSNP:rs2710329</li>									<li>rs2710329</li><li>rs35271262</li><li>rs9883888</li><li>rs2710330</li><li>rs3617</li>	2
Q06055			<li>S->I at 58: in dbSNP:rs13819</li><li>M->K at 141: in dbSNP:rs1803177</li>									<li>rs13819</li><li>rs1803177</li>	2
Q06190	5523		<li>D->G at 67: in dbSNP:rs9814557</li><li>N->S at 108: in dbSNP:rs36020282</li><li>A->S at 171: in dbSNP:rs6779903</li><li>P->A at 481: in dbSNP:rs34901937</li><li>S->G at 642: in dbSNP:rs17197552</li><li>P->L at 695: in dbSNP:rs9826032</li><li>D->N at 745: in dbSNP:rs16843645</li>									<li>rs16843645</li><li>rs9826032</li><li>rs36020282</li><li>rs17197552</li><li>rs6779903</li><li>rs34901937</li><li>rs9814557</li>	2
Q06250			<li>A->T at 13: in dbSNP:rs6508</li><li>G->A at 66: in dbSNP:rs3087923</li>									<li>rs6508</li><li>rs3087923</li>	2
Q06265	5393		<li>I->V at 366: in dbSNP:rs1803183</li><li>S->T at 425: in dbSNP:rs1051881</li>									<li>rs1803183</li><li>rs1051881</li>	2
Q06278	316		<li>R->C at 802: in dbSNP:rs41309768</li><li>H->R at 1297: in dbSNP:rs3731722</li>									<li>rs41309768</li><li>rs3731722</li>	2
Q06323	5720		<li>S->N at 55: in dbSNP:rs1803830</li><li>T->K at 244: in dbSNP:rs14930</li>									<li>rs1803830</li><li>rs14930</li>	2
Q06330	3516		<li>K->E at 291: in dbSNP:rs1064372</li><li>D->H at 334: in dbSNP:rs1064376</li><li>R->Q at 419: in dbSNP:rs1064384</li><li>P->S at 425: in dbSNP:rs1064387</li><li>A->V at 456: in dbSNP:rs1064402</li>									<li>rs1064402</li><li>rs1064376</li><li>rs1064384</li><li>rs1064372</li><li>rs1064387</li>	2
Q06430	2651		<li>P->R at 85: in dbSNP:rs17637756</li>									rs17637756	2
Q06432	786		<li>G->S at 196: in dbSNP:rs1799938</li>									rs1799938	2
Q06481	334		<li>D->N at 632: in dbSNP:rs3740881</li>									rs3740881	2
Q06495	6569		<li>A->F at 48: in NPHLOP1; causes hypophosphatemic urolithiasis; results in lower phosphate current, decreases affinity for phosphate and decreases phosphate uptake compared to wild-type; shows a dominant-negative effect; requires 2 nucleotide substitutions, MIM: 612286</li><li>V->M at 147: in NPHLOP1; causes hypophosphatemic osteoporosis; results in lower phosphate current, decreases affinity for phosphate and decreases phosphate uptake compared to wild-type; shows a dominant-negative effect, MIM: 612286</li>								Hypophosphatemic nephrolithiasis/osteoporosis type 1 (NPHLOP1) [MIM:612286]		2
Q06520	6822		<li>A->P at 63: in dbSNP:rs11569681</li><li>A->T at 261: in dbSNP:rs11569679</li>									<li>rs11569681</li><li>rs11569679</li>	2
Q06546	2551		<li>A->V at 291: in dbSNP:rs2829897</li><li>E->K at 345: in dbSNP:rs2829900</li>									<li>rs2829900</li><li>rs2829897</li>	2
Q06643	4050		<li>G->E at 70: in dbSNP:rs3093554</li><li>S->R at 84: in dbSNP:rs4647186</li><li>L->F at 87: in dbSNP:rs4647187</li><li>A->P at 111: in dbSNP:rs3093555</li><li>A->D at 122: in dbSNP:rs2229699</li>									<li>rs3093555</li><li>rs3093554</li><li>rs2229699</li><li>rs4647186</li><li>rs4647187</li>	2
Q06710	7849		<li>R->H at 31: in CHNG2; loss of activity, MIM: 218700</li><li>Q->P at 40: in CHNG2; loss of activity, MIM: 218700</li><li>C->Y at 57: in CHNG2; loss of activity, MIM: 218700</li><li>L->R at 62: in CHNG2; loss of activity, MIM: 218700</li><li>F->L at 329, MIM: 218700</li>								Congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700]		2
Q06730	7581		<li>Q->E at 549: in dbSNP:rs2505232</li><li>G->R at 614: in dbSNP:rs12256916</li><li>D->H at 804: in dbSNP:rs10508862</li>									<li>rs10508862</li><li>rs2505232</li><li>rs12256916</li>	2
Q06732	7582		<li>R->C at 145: in dbSNP:rs210280</li><li>H->R at 356: in dbSNP:rs7914982</li>									<li>rs210280</li><li>rs7914982</li>	2
Q07000			<li>G->S at 40: in allele Cw*1511</li><li>H->R at 45: in allele Cw*1510</li><li>N->K at 90: in allele Cw*1511</li><li>T->A at 97: in allele Cw*1503</li><li>H->Y at 137: in allele Cw*1504</li><li>L->F at 140: in allele Cw*1505</li><li>L->S at 140: in allele Cw*1504</li>										2
Q07001	1144		<li>E->K at 80: in FCCMS; reduced adult and fetal AChR expression and a reduced probability of both adult and fetal AChR being in the open state, MIM: 608930</li><li>F->L at 95: in lethal type multiple pterygium syndrome, MIM: 253290</li><li>P->Q at 271: in FCCMS; burst duration was decreased and disassociation of ACh was increased resulting in brief channel opening episodes; shows abnormal association with alpha CHRNA1 subunit resulting in a decreased number of fully assembled AChRs, MIM: 608930</li><li>Q->E at 288: in SCCMS; a benign mutation or a rare polymorphism: in dbSNP rsrs41265127, MIM: 601462</li><li>S->F at 289: in SCCMS; delayed closure of AchR ion channels, increasing the propensity for open-channel block, as well as a reduced rate of channel opening, MIM: 601462</li><li>D->E at 398: in a breast cancer sample; somatic mutation, MIM: 601462</li>							<li>P54251</li><li>P54250</li><li>P54249</li><li>P09688</li><li>P14144</li><li>P02708</li><li>P14143</li><li>P02709</li><li>P54248</li><li>P02711</li><li>P02710</li><li>P09479</li>	<li>Lethal type multiple pterygium syndrome [MIM:253290]</li><li>Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]</li><li>Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]</li>	rs41265127	2
Q07002	5129		<li>G->S at 46</li><li>G->R at 65</li><li>T->M at 164</li>										2
Q07011	3604		<li>A->T at 56: in dbSNP:rs9657963</li><li>K->N at 115: in dbSNP:rs9657965</li><li>A->D at 176: in dbSNP:rs9657979</li><li>E->G at 250: in a colorectal cancer sample; somatic mutation</li>									<li>rs9657965</li><li>rs9657963</li><li>rs9657979</li>	2
Q07065	10970		<li>A->T at 348: in dbSNP:rs3088113</li>									rs3088113	2
Q07075	2028		<li>R->Q at 213: in dbSNP:rs10004516</li><li>V->A at 218: in dbSNP:rs1126483</li><li>R->T at 887: in a breast cancer sample; somatic mutation</li>									<li>rs10004516</li><li>rs1126483</li>	2
Q07092	1307		<li>Q->H at 27: in dbSNP:rs2229802</li><li>T->K at 62: in dbSNP:rs2228552</li><li>R->Q at 418: in dbSNP:rs6699645</li><li>G->S at 745: in dbSNP:rs34770879</li><li>P->L at 909: in dbSNP:rs2229804</li>									<li>rs2229804</li><li>rs2228552</li><li>rs2229802</li><li>rs34770879</li><li>rs6699645</li>	2
Q07157	7082		<li>N->S at 471: in dbSNP:rs2229517</li><li>I->V at 790: in dbSNP:rs7179270</li><li>P->L at 930: in dbSNP:rs45529137</li><li>H->R at 1110: in dbSNP:rs45567033</li><li>D->A at 1347: in dbSNP:rs2291166</li><li>N->S at 1605: in dbSNP:rs45578638</li>									<li>rs45529137</li><li>rs45578638</li><li>rs7179270</li><li>rs2291166</li><li>rs45567033</li><li>rs2229517</li>	2
Q07283	7062		<li>L->R at 63: in dbSNP:rs2515663</li><li>V->L at 237: in dbSNP:rs3134814</li><li>R->S at 552: in dbSNP:rs6680692</li><li>L->M at 790: in dbSNP:rs11803731</li><li>L->V at 1258: in dbSNP:rs2496253</li><li>K->Q at 1902: in dbSNP:rs1131471</li>									<li>rs2496253</li><li>rs3134814</li><li>rs11803731</li><li>rs2515663</li><li>rs1131471</li><li>rs6680692</li>	2
Q07343	5142		<li>S->C at 703: in dbSNP:rs2227297</li>									rs2227297	2
Q07444	3823		<li>P->R at 19: in allele NKG2-E*02</li><li>R->S at 135: in dbSNP:rs1138437</li>									rs1138437	2
Q07507	1805		<li>V->I at 201: in dbSNP:rs6698023</li>									rs6698023	2
Q07627	728946		<li>PSCSTSGTCGSSCCQ at 12-58: in allele KAP1.6</li><li>Missing  at 19-110: in allele KAP1.7</li>							Q07627			2
Q07699	6324		<li>C->W at 121: in GEFS+1, MIM: 604233</li>								Generalized epilepsy with febrile seizures plus type 1 (GEFS+1) [MIM:604233]		2
Q07837	6519		<li>P->Q at 128: in CSNU1, MIM: 220100</li><li>Y->C at 151: in CSNU1, MIM: 220100</li><li>R->Q at 181: in CSNU1, MIM: 220100</li><li>T->M at 216: in CSNU1, MIM: 220100</li><li>N->K at 253: in CSNU1, MIM: 220100</li><li>E->K at 268: in CSNU1; reduction in amino acid transport activity, MIM: 220100</li><li>T->A at 341: in CSNU1; reduction in amino acid transport activity, MIM: 220100</li><li>R->C at 362: in CSNU1, MIM: 220100</li><li>R->H at 362: in CSNU1, MIM: 220100</li><li>R->W at 365: in CSNU1, MIM: 220100</li><li>G->R at 398: in CSNU1, MIM: 220100</li><li>R->W at 452: in CSNU1, MIM: 220100</li><li>Y->H at 461: in CSNU1, MIM: 220100</li><li>M->K at 467: in CSNU1, MIM: 220100</li><li>M->T at 467: in CSNU1; loss of 80% of amino acid transport activity, MIM: 220100</li><li>G->V at 481: in CSNU1, MIM: 220100</li><li>E->K at 482: in CSNU1, MIM: 220100</li><li>P->A at 508: in CSNU1, MIM: 220100</li><li>Q->R at 510: in CSNU1, MIM: 220100</li><li>Y->H at 582: in CSNU1, MIM: 220100</li><li>R->T at 584: in CSNU1, MIM: 220100</li><li>F->S at 599: in CSNU1, MIM: 220100</li><li>G->E at 600: in CSNU1, MIM: 220100</li><li>P->T at 615: in CSNU1, MIM: 220100</li><li>M->I at 618: in dbSNP:rs698761, MIM: 220100</li><li>F->S at 648: in CSNU1, MIM: 220100</li><li>T->R at 652: in CSNU1, MIM: 220100</li><li>L->P at 678: in CSNU1, MIM: 220100</li>	amino acid transport	GO:0006865						Cystinuria type I (CSNU1) [MIM:220100]	rs698761	2
Q07864	5426		<li>P->L at 99: in dbSNP:rs5744739</li><li>A->V at 252: in dbSNP:rs5744751</li><li>R->Q at 260: in dbSNP:rs5744752</li><li>N->S at 336: in dbSNP:rs5744760</li><li>F->I at 695: in dbSNP:rs5744799</li><li>R->C at 1382: in dbSNP:rs5744904</li><li>Y->C at 1395: in dbSNP:rs5744933</li><li>N->S at 1396: in dbSNP:rs5744934</li><li>E->Q at 1399: in dbSNP:rs5744935</li><li>E->A at 1577: in dbSNP:rs5744948</li><li>A->V at 1712: in dbSNP:rs5744950</li><li>K->R at 1857: in dbSNP:rs5744971</li><li>C->Y at 1935: in dbSNP:rs5744991</li><li>A->V at 2040: in dbSNP:rs5745021</li><li>E->K at 2140: in dbSNP:rs5745066</li><li>R->C at 2159: in dbSNP:rs5745067</li><li>R->H at 2165: in dbSNP:rs5745068</li>									<li>rs5744991</li><li>rs5744739</li><li>rs5744904</li><li>rs5745021</li><li>rs5744752</li><li>rs5744751</li><li>rs5745068</li><li>rs5744760</li><li>rs5745066</li><li>rs5745067</li><li>rs5744950</li><li>rs5744933</li><li>rs5744934</li><li>rs5744935</li><li>rs5744948</li><li>rs5744971</li><li>rs5744799</li>	2
Q07869	5465		<li>R->Q at 127: in dbSNP:rs1800204</li><li>L->V at 162: in dbSNP:rs1800206</li><li>V->A at 227: in dbSNP:rs1800234</li><li>A->V at 268: in dbSNP:rs1042311</li><li>D->N at 304: in dbSNP:rs1800242</li><li>G->R at 395: in dbSNP:rs2229245</li><li>R->T at 409: in dbSNP:rs1800243</li>									<li>rs1800234</li><li>rs1800204</li><li>rs1042311</li><li>rs2229245</li><li>rs1800206</li><li>rs1800242</li><li>rs1800243</li>	2
Q07889	6654		<li>E->K at 108: in NS4, MIM: 610733</li><li>T->K at 266: in NS4, MIM: 610733</li><li>M->R at 269: in NS4, MIM: 610733</li><li>D->Y at 309: in NS4, MIM: 610733</li><li>Y->C at 337: in NS4, MIM: 610733</li><li>W->R at 432: in NS4, MIM: 610733</li><li>E->K at 433: in NS4, MIM: 610733</li><li>G->R at 434: in NS4, MIM: 610733</li><li>C->Y at 441: in NS4, MIM: 610733</li><li>S->R at 548: in NS4, MIM: 610733</li><li>L->P at 550: in NS4, MIM: 610733</li><li>R->G at 552: in NS4; increases the basal level of active RAS; prolonges RAS activation after EGF stimulation and enhances ERK activation, MIM: 610733</li><li>R->K at 552: in NS4, MIM: 610733</li><li>R->S at 552: in NS4, MIM: 610733</li><li>P->L at 655: in dbSNP rsrs56219475, MIM: 610733</li><li>Y->H at 702: in NS4, MIM: 610733</li><li>W->L at 729: in NS4; promotes constitutive RAS activation and enhances ERK activation, MIM: 610733</li><li>I->F at 733: in NS4, MIM: 610733</li><li>E->K at 846: in NS4, MIM: 610733</li><li>Q->R at 977, MIM: 610733</li><li>H->R at 1320, MIM: 610733</li>							<li>O42785</li><li>P22655</li><li>P26224</li><li>P01132</li><li>O74650</li><li>P29075</li><li>Q91079</li><li>Q95ND4</li><li>Q9BEA0</li><li>P09048</li><li>P19739</li><li>P01133</li><li>P29323</li><li>P69611</li><li>Q00968</li><li>P69610</li><li>P01114</li><li>P07522</li>	Noonan syndrome type 4 (NS4) [MIM:610733]	rs56219475	2
Q07890	6655		<li>S->N at 483: in dbSNP:rs17122201</li><li>H->Y at 508: in dbSNP:rs8010237</li><li>L->I at 672: in dbSNP:rs34139502</li>									<li>rs17122201</li><li>rs8010237</li><li>rs34139502</li>	2
Q07912	10188		<li>R->L at 34: in a lung adenocarcinoma sample; somatic mutation</li><li>K->R at 71: in dbSNP rsrs56036945</li><li>R->Q at 99: in an ovarian mucinous carcinoma sample; somatic mutation</li><li>R->W at 99: in dbSNP rsrs3747673</li><li>T->M at 152: in dbSNP rsrs56161912</li><li>E->K at 346: in an ovarian endometrioid cancer sample; somatic mutation</li><li>M->I at 409: in a gastric adenocarcinoma sample; somatic mutation</li><li>P->S at 507: in dbSNP rsrs35759128</li><li>P->L at 725: in dbSNP rsrs56260729</li><li>R->Q at 748: in dbSNP rsrs57872314</li><li>R->H at 1038: in dbSNP rsrs13433937</li>									<li>rs13433937</li><li>rs57872314</li><li>rs56161912</li><li>rs35759128</li><li>rs3747673</li><li>rs56036945</li><li>rs56260729</li>	2
Q07960	392		<li>R->C at 369: in dbSNP:rs11822837</li>									rs11822837	2
Q07973	1591		<li>R->Q at 157: in dbSNP:rs35051736</li><li>M->T at 374: in dbSNP:rs6022990</li><li>L->S at 409: in dbSNP:rs6068812</li>									<li>rs6068812</li><li>rs6022990</li><li>rs35051736</li>	2
Q08043	89		<li>R->Q at 523: in dbSNP:rs1671064</li><li>C->R at 628: in dbSNP:rs618838</li><li>E->A at 635: in dbSNP:rs2229456</li><li>Q->R at 776: in dbSNP:rs540874</li>									<li>rs618838</li><li>rs1671064</li><li>rs2229456</li><li>rs540874</li>	2
Q08050	2305		<li>A->E at 402: in dbSNP:rs28990715</li><li>F->L at 450: in dbSNP:rs28919868</li><li>S->P at 643: in dbSNP:rs3742076</li><li>P->R at 669: in dbSNP:rs28919869</li><li>P->L at 673: in dbSNP:rs28919870</li>									<li>rs28919869</li><li>rs28919868</li><li>rs28990715</li><li>rs28919870</li><li>rs3742076</li>	2
Q08117	166		<li>A->E at 168: in dbSNP:rs1802578</li>									rs1802578	2
Q08170	6429		<li>E->D at 253: in dbSNP:rs2230679</li><li>G->A at 338: in dbSNP:rs2230677</li><li>G->S at 356: in dbSNP:rs2230678</li><li>Q->E at 438: in dbSNP:rs1049928</li>									<li>rs2230679</li><li>rs1049928</li><li>rs2230678</li><li>rs2230677</li>	2
Q08174	5097		<li>L->F at 15: in dbSNP:rs12517385</li><li>H->P at 25: in dbSNP:rs12515587</li><li>A->T at 514: in dbSNP:rs3822357</li>									<li>rs3822357</li><li>rs12515587</li><li>rs12517385</li>	2
Q08188	7053		<li>K->T at 13: in dbSNP:rs214803</li><li>I->L at 163: in dbSNP:rs6048066</li><li>S->N at 249: in dbSNP:rs214814</li><li>K->R at 562: in dbSNP:rs1042617</li><li>R->G at 654: in dbSNP:rs214830</li><li>L->M at 687: in dbSNP:rs45581032</li>									<li>rs45581032</li><li>rs6048066</li><li>rs1042617</li><li>rs214830</li><li>rs214814</li><li>rs214803</li>	2
Q08257	1429		<li>P->S at 66: in dbSNP:rs11551729</li><li>I->V at 176: in dbSNP:rs3819946</li><li>E->K at 183: in dbSNP:rs17095822</li>									<li>rs11551729</li><li>rs17095822</li><li>rs3819946</li>	2
Q08289	783		<li>A->G at 99: in a colorectal cancer sample; somatic mutation</li><li>S->L at 535: in BRS4; loss of function, MIM: 611876</li>							P47751	Brugada syndrome type 4 (BRS4) [MIM:611876]		2
Q08334	3588		<li>K->E at 47: associated with susceptibility to HBV infection; higher cell surface levels; dbSNP:rs2834167</li>					cell surface	GO:0009928,GO:0009986	P29243		rs2834167	2
Q08345	780		<li>S->G at 17: in dbSNP rsrs55901302</li><li>V->A at 100: in dbSNP rsrs34544756</li><li>R->Q at 169: in dbSNP rsrs55980643</li><li>A->D at 170: in dbSNP rsrs56231803</li><li>R->W at 306: in dbSNP rsrs56024191</li><li>S->A at 496: in a lung squamous cell carcinoma sample; somatic mutation</li><li>L->V at 833: in dbSNP:rs2524235</li>									<li>rs55901302</li><li>rs56231803</li><li>rs55980643</li><li>rs34544756</li><li>rs2524235</li><li>rs56024191</li>	2
Q08379	2801		<li>R->G at 890: in dbSNP:rs2240961</li>									rs2240961	2
Q08397	4016		<li>R->L at 141: associated with risk of developing XFS resulting in glaucoma; in combined case-control samples from Iceland and Sweden; dbSNP:rs1048661</li><li>G->D at 153: associated with risk of developing XFS resulting in glaucoma; in combined case-control samples from Iceland and Sweden; dbSNP:rs3825942</li>									<li>rs1048661</li><li>rs3825942</li>	2
Q08426	1962		<li>V->G at 40: in dbSNP:rs1062551</li><li>I->R at 41: in dbSNP:rs1062552</li><li>T->I at 75: in dbSNP:rs1062553</li><li>A->T at 274: in dbSNP:rs2302819</li><li>A->G at 325: in dbSNP:rs1062555</li><li>K->T at 598: in dbSNP:rs1042437</li><li>T->P at 606: in dbSNP:rs1042438</li><li>Q->K at 685: in dbSNP:rs11919970</li><li>L->S at 715: in dbSNP:rs11927618</li>									<li>rs2302819</li><li>rs11927618</li><li>rs1062551</li><li>rs1062552</li><li>rs1062553</li><li>rs11919970</li><li>rs1062555</li><li>rs1042437</li><li>rs1042438</li>	2
Q08431	4240		<li>R->S at 3: in dbSNP:rs4945</li><li>M->L at 76: in dbSNP:rs1878326</li>									<li>rs4945</li><li>rs1878326</li>	2
Q08462	108		<li>V->L at 147: in dbSNP:rs13166360</li><li>V->I at 163: in dbSNP:rs34043481</li>									<li>rs34043481</li><li>rs13166360</li>	2
Q08477	4051		<li>H->Q at 96: in dbSNP:rs34923393</li><li>Y->C at 106: in dbSNP:rs35888783</li><li>A->D at 269: in dbSNP:rs1805040</li><li>V->I at 270: in dbSNP rsrs28371536</li><li>I->T at 271: in dbSNP rsrs28371479</li>									<li>rs28371536</li><li>rs35888783</li><li>rs28371479</li><li>rs1805040</li><li>rs34923393</li>	2
Q08493	5143		<li>S->L at 131: in dbSNP:rs10413646</li><li>R->Q at 289: in dbSNP:rs34503849</li><li>R->Q at 344: in dbSNP:rs2229228</li>									<li>rs2229228</li><li>rs10413646</li><li>rs34503849</li>	2
Q08648	10407		<li>R->Q at 77: in dbSNP:rs2853658</li><li>D->G at 89: in dbSNP:rs2738035</li>									<li>rs2738035</li><li>rs2853658</li>	2
Q08708	10871		<li>T->I at 71: in dbSNP:rs11870245</li>									rs11870245	2
Q08752	5481		<li>R->C at 49: in dbSNP:rs2070631</li><li>D->V at 196: in dbSNP:rs2230222</li><li>L->I at 302: in dbSNP rsrs9410</li><li>G->E at 335: in dbSNP:rs17843956</li>									<li>rs9410</li><li>rs2070631</li><li>rs2230222</li><li>rs17843956</li>	2
Q08828	107		<li>P->L at 456: in dbSNP:rs12721473</li><li>A->T at 940: in dbSNP:rs45444695</li><li>V->M at 984: in dbSNP:rs2293106</li>									<li>rs12721473</li><li>rs45444695</li><li>rs2293106</li>	2
Q08830	2267		<li>T->I at 15: in dbSNP:rs484373</li><li>I->V at 72: in dbSNP:rs3739406</li><li>P->L at 105: in dbSNP:rs2653406</li><li>Y->H at 111: in dbSNP:rs34019703</li><li>M->V at 114: in dbSNP:rs35311020</li><li>T->S at 121: in dbSNP:rs34239530</li><li>Y->F at 140: in dbSNP:rs35431851</li><li>W->L at 256: in dbSNP:rs2653414</li>									<li>rs34019703</li><li>rs35311020</li><li>rs2653406</li><li>rs35431851</li><li>rs34239530</li><li>rs484373</li><li>rs3739406</li><li>rs2653414</li>	2
Q08881	3702		<li>R->K at 19: in a metastatic melanoma sample; somatic mutation</li><li>P->L at 23: in a metastatic melanoma sample; somatic mutation</li><li>R->Q at 193: in dbSNP:rs17054374</li><li>R->Q at 451: in a gastric adenocarcinoma sample; somatic mutation</li><li>R->W at 581: in dbSNP:rs34482255</li><li>V->I at 587: in dbSNP rsrs56005928</li>									<li>rs17054374</li><li>rs56005928</li><li>rs34482255</li>	2
Q08999	5934		<li>Y->C at 210: in dbSNP:rs17800727</li>									rs17800727	2
Q08AD1			<li>I->L at 361: in a colorectal cancer sample; somatic mutation</li><li>P->L at 958: in dbSNP:rs3753952</li><li>P->R at 1028: in dbSNP:rs6674599</li>									<li>rs3753952</li><li>rs6674599</li>	2
Q08AF3	162394		<li>V->L at 754: in dbSNP:rs16970806</li><li>P->L at 787: in dbSNP:rs11651240</li><li>A->V at 797: in dbSNP:rs2291189</li>									<li>rs2291189</li><li>rs11651240</li><li>rs16970806</li>	2
Q08AG7	440145		<li>S->G at 5: in dbSNP:rs1465896</li>									rs1465896	2
Q08AH1	116285		<li>I->M at 272: in dbSNP:rs16970511</li><li>I->V at 479: in dbSNP:rs8056709</li><li>I->T at 515: in dbSNP:rs16970453</li>									<li>rs16970453</li><li>rs8056709</li><li>rs16970511</li>	2
Q08AH3	123876		<li>S->L at 513: in dbSNP:rs1133607</li><li>A->T at 561: in dbSNP:rs1054977</li>									<li>rs1133607</li><li>rs1054977</li>	2
Q08AI6	151258		<li>A->T at 194: in dbSNP:rs4564790</li>									rs4564790	2
Q08AI8	79919		<li>A->T at 170: in dbSNP:rs4359646</li><li>L->P at 309: in dbSNP:rs6707568</li>									<li>rs6707568</li><li>rs4359646</li>	2
Q08AN1			<li>H->R at 451: in dbSNP:rs3764537</li>									rs3764537	2
Q08ER8			<li>P->A at 55: in dbSNP:rs6510057</li><li>R->Q at 107: in dbSNP:rs8100491</li><li>H->L at 246: in dbSNP:rs1968090</li><li>E->V at 287: in dbSNP:rs35238720</li><li>V->D at 439: in dbSNP:rs10411486</li><li>M->V at 573: in dbSNP:rs10410649</li>									<li>rs6510057</li><li>rs10411486</li><li>rs35238720</li><li>rs1968090</li><li>rs8100491</li><li>rs10410649</li>	2
Q09428	6833		<li>G->R at 7: in HHF1, MIM: 256450</li><li>V->D at 21: in HHF1, MIM: 256450</li><li>F->S at 27: in HHF1, MIM: 256450</li><li>G->E at 70: in HHF1; altered intracellular trafficking, MIM: 256450</li><li>R->Q at 74: in HHF1, MIM: 256450</li><li>R->W at 74: in HHF1, MIM: 256450</li><li>V->A at 86: in PNDM, MIM: 606176</li><li>L->V at 104: in dbSNP:rs10400391, MIM: 606176</li><li>G->R at 111: in HHF1; altered intracellular trafficking, MIM: 256450</li><li>A->P at 116: in HHF1, MIM: 256450</li><li>H->Q at 125: in HHF1; mild; dbSNP:rs60637558, MIM: 256450</li><li>F->L at 132: in PNDM; with neurologic features; reduces the sensitivity of the K, MIM: 606176</li><li>V->D at 187: in HHF1; severe; high prevalence in Finland; loss of channel activity, MIM: 256450</li><li>N->S at 188: in HHF1; severe, MIM: 256450</li><li>L->R at 213: in PNDM, MIM: 606176</li><li>M->R at 233: in HHF1, MIM: 256450</li><li>R->Q at 275, MIM: 256450</li><li>D->N at 310: in HHF1, MIM: 256450</li><li>N->D at 406: in HHF1, MIM: 256450</li><li>C->R at 418: in HHF1, MIM: 256450</li><li>C->R at 435: in TNDM2, MIM: 610374</li><li>R->Q at 495: in HHF1, MIM: 256450</li><li>E->K at 501: in HHF1, MIM: 256450</li><li>L->P at 503: in HHF1, MIM: 256450</li><li>L->P at 508: in HHF1, MIM: 256450</li><li>P->R at 551: in HHF1, MIM: 256450</li><li>V->M at 560: in dbSNP:rs4148619, MIM: 256450</li><li>L->V at 582: in TNDM2, MIM: 610374</li><li>F->L at 591: in HHF1, MIM: 256450</li><li>R->C at 620: in HHF1; dbSNP:rs58241708, MIM: 256450</li><li>D->N at 673, MIM: 256450</li><li>F->S at 686: in HHF1, MIM: 256450</li><li>G->V at 716: in HHF1, MIM: 256450</li><li>K->T at 719: in HHF1, MIM: 256450</li><li>D->N at 810, MIM: 256450</li><li>R->C at 834, MIM: 256450</li><li>R->G at 841: in HHF1, MIM: 256450</li><li>K->T at 889: in HHF1, MIM: 256450</li><li>S->F at 956: in HHF1, MIM: 256450</li><li>H->Y at 1023: in TNDM2; overactive channel, MIM: 610374</li><li>T->P at 1130: in HHF1, MIM: 256450</li><li>T->M at 1138: in HHF1, MIM: 256450</li><li>L->R at 1147: in HHF1, MIM: 256450</li><li>R->Q at 1182: in TNDM2, MIM: 610374</li><li>R->Q at 1214: in HHF1; severe, MIM: 256450</li><li>R->W at 1214: in HHF1, MIM: 256450</li><li>N->K at 1295: in HHF1, MIM: 256450</li><li>K->N at 1336: in HHF1, MIM: 256450</li><li>G->E at 1342: in HHF1; altered intracellular trafficking, MIM: 256450</li><li>L->Q at 1349: in HHF1, MIM: 256450</li><li>R->H at 1352: in LIH; partially impairs ATP-dependent potassium channel function, MIM: 240800</li><li>R->P at 1352: in HHF1; dbSNP:rs28936370, MIM: 256450</li><li>V->G at 1360, MIM: 256450</li><li>V->M at 1360: in HHF1, MIM: 256450</li><li>S->A at 1369: common polymorphism; dbSNP:rs757110, MIM: 256450</li><li>G->R at 1378: in HHF1, MIM: 256450</li><li>R->C at 1379: in TNDM2, MIM: 610374</li><li>G->S at 1381: in HHF1, MIM: 256450</li><li>K->Q at 1384: in HHF1, MIM: 256450</li><li>Missing  at 1385: in HHF1; does not alter surface expression but channels are not functional, MIM: 256450</li><li>S->F at 1386: in HHF1, MIM: 256450</li><li>Missing  at 1387: in HHF1; severe; high frequency in Ashkenazi Jewish patients; defective trafficking and lack of surface expression, MIM: 256450</li><li>R->H at 1393: in HHF1; severe; loss of channel activity, MIM: 256450</li><li>G->R at 1400: in HHF1, MIM: 256450</li><li>R->H at 1418: in HHF1; altered intracellular trafficking, MIM: 256450</li><li>R->C at 1420: in HHF1; modest impairment of channel function; dbSNP:rs28938469, MIM: 256450</li><li>I->V at 1424: in PNDM; overactive channel, MIM: 606176</li><li>R->Q at 1436: in HHF1; cannot form a functional channel, due to protein instability or defective transport to the membrane, MIM: 256450</li><li>L->P at 1450: in HHF1, MIM: 256450</li><li>A->T at 1457: in HHF1, MIM: 256450</li><li>D->H at 1471: in HHF1, MIM: 256450</li><li>D->N at 1471: in HHF1, MIM: 256450</li><li>G->R at 1478: in HHF1; channels insensitive to metabolic inhibition and to activation by ADP, MIM: 256450</li><li>R->K at 1486: in HHF1, MIM: 256450</li><li>R->Q at 1493: in HHF1, MIM: 256450</li><li>R->W at 1493: in HHF1; altered intracellular trafficking; dbSNP:rs28936371, MIM: 256450</li><li>E->K at 1506: in HHF1; mild; dominantly inherited; channels insensitive to metabolic inhibition and to activation by ADP, MIM: 256450</li><li>A->AAS at 1507: in HHF1, MIM: 256450</li><li>L->P at 1543: in HHF1; reduced channels surface expression and response to ADP, MIM: 256450</li><li>V->D at 1550: in HHF1, MIM: 256450</li><li>L->V at 1551: in HHF1, MIM: 256450</li><li>V->I at 1572: in dbSNP:rs8192690, MIM: 256450</li>	transport	GO:0006810			<li>intracellular</li><li>membrane</li>	<li>GO:0005622</li><li>GO:0016020</li>	<li>Q8SQP4</li><li>Q8NIG3</li><li>Q757K0</li><li>P02783</li><li>P02309</li>	<li>Leucine-induced hypoglycemia (LIH) [MIM:240800]</li><li>Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]</li><li>Permanent neonatal diabetes mellitus (PNDM) [MIM:606176]</li><li>Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]</li>	<li>rs28938469</li><li>rs757110</li><li>rs10400391</li><li>rs58241708</li><li>rs28936370</li><li>rs60637558</li><li>rs28936371</li><li>rs8192690</li><li>rs4148619</li>	2
Q09666	79026		<li>G->V at 962: in dbSNP:rs664761</li><li>A->T at 2114: in dbSNP:rs1298288</li><li>P->L at 2439: in dbSNP:rs11824660</li><li>Q->K at 3003: in dbSNP:rs566144</li><li>V->I at 3190: in dbSNP:rs11231129</li><li>S->P at 3724: in dbSNP:rs11231128</li><li>G->D at 4561: in dbSNP:rs12795508</li><li>M->V at 4611: in dbSNP:rs12801302</li><li>I->V at 4613: in dbSNP:rs12801153</li><li>D->G at 4631: in dbSNP:rs12801123</li><li>T->A at 5415: in dbSNP:rs11231126</li>									<li>rs11231129</li><li>rs11231128</li><li>rs12801123</li><li>rs12795508</li><li>rs12801153</li><li>rs12801302</li><li>rs566144</li><li>rs664761</li><li>rs1298288</li><li>rs11231126</li><li>rs11824660</li>	2
Q09FC8	55786		<li>H->P at 196: in dbSNP:rs16984466</li><li>I->L at 229: in dbSNP:rs1054485</li><li>I->V at 233: in dbSNP:rs1133327</li><li>Y->C at 241: in dbSNP:rs1560099</li><li>N->D at 463: in dbSNP:rs10410030</li>									<li>rs16984466</li><li>rs1133327</li><li>rs1054485</li><li>rs10410030</li><li>rs1560099</li>	2
Q0D2J5			<li>Y->H at 327: in dbSNP:rs7254529</li>									rs7254529	2
Q0D2K0	348938		<li>G->V at 142: in ARCII, MIM: 612281</li><li>A->D at 176: in ARCII; frequent mutation, MIM: 612281</li><li>S->F at 208: in ARCII, MIM: 612281</li><li>G->R at 230: in ARCII, MIM: 612281</li><li>H->N at 237: in ARCII, MIM: 612281</li><li>G->R at 297: in ARCII, MIM: 612281</li>								Ichthyosis congenital autosomal recessive ichthyin-related (ARCII) [MIM:612281]		2
Q0D2K5			<li>G->D at 59: in dbSNP:rs603638</li><li>P->L at 157: in dbSNP:rs678690</li>									<li>rs678690</li><li>rs603638</li>	2
Q0IIN9			<li>L->I at 84: in dbSNP:rs2294043</li>									rs2294043	2
Q0P611			<li>T->A at 7: in dbSNP:rs10159161</li><li>T->S at 7: in dbSNP:rs10157977</li><li>I->V at 117: in dbSNP:rs12076164</li>									<li>rs10159161</li><li>rs12076164</li><li>rs10157977</li>	2
Q0P641	389073		<li>R->H at 82: in dbSNP:rs11898181</li><li>R->C at 130: in dbSNP:rs6435421</li><li>S->G at 152: in dbSNP:rs10804166</li>									<li>rs6435421</li><li>rs11898181</li><li>rs10804166</li>	2
Q0P670	201243		<li>S->A at 108: in dbSNP:rs13290</li><li>Q->R at 376: in dbSNP:rs3892554</li>									<li>rs3892554</li><li>rs13290</li>	2
Q0P6D6	80071		<li>G->D at 529: in dbSNP:rs4936966</li><li>C->R at 813: in dbSNP:rs7107487</li>									<li>rs4936966</li><li>rs7107487</li>	2
Q0VAF6	342898		<li>L->M at 111: in dbSNP:rs2082416</li>									rs2082416	2
Q0VAK6	56203		<li>I->T at 263: in dbSNP:rs9835034</li><li>K->M at 438: in dbSNP:rs6810145</li><li>A->V at 560: in dbSNP:rs17005363</li>									<li>rs17005363</li><li>rs6810145</li><li>rs9835034</li>	2
Q0VAR9	92070		<li>G->S at 19: in dbSNP:rs1732115</li><li>Y->C at 173: in dbSNP:rs1564508</li>									<li>rs1564508</li><li>rs1732115</li>	2
Q0VD83	55911		<li>A->P at 419: associated with susceptibility to hypercholesterolemia; dbSNP:rs180743</li>										2
Q0VDD7	79173		<li>G->R at 267: in dbSNP:rs2305775</li><li>Q->R at 500: in dbSNP:rs3803892</li>									<li>rs3803892</li><li>rs2305775</li>	2
Q0VDD8			<li>T->S at 220: in dbSNP:rs41267347</li><li>P->L at 274: in dbSNP:rs41267349</li>									<li>rs41267347</li><li>rs41267349</li>	2
Q0VDF9	51182		<li>A->V at 85: in a breast cancer sample; somatic mutation</li>										2
Q0VDG4	79634		<li>D->N at 18: in dbSNP:rs10497410</li><li>V->A at 179: in dbSNP:rs6716400</li>									<li>rs10497410</li><li>rs6716400</li>	2
Q0VF96	84952		<li>P->T at 380: in dbSNP:rs1280395</li><li>S->F at 459: in dbSNP:rs7182648</li><li>A->T at 511: in dbSNP:rs1280396</li><li>L->V at 1101: in dbSNP:rs1620402</li><li>M->V at 1270: in dbSNP:rs16977594</li>									<li>rs1280396</li><li>rs1280395</li><li>rs7182648</li><li>rs1620402</li><li>rs16977594</li>	2
Q0VG06	80233		<li>L->P at 660: in dbSNP:rs11552304</li><li>A->T at 817: in dbSNP:rs14422</li>									<li>rs14422</li><li>rs11552304</li>	2
Q0VG73	152225		<li>S->R at 19: in dbSNP:rs12629299</li><li>I->M at 63: in dbSNP:rs10936873</li>									<li>rs10936873</li><li>rs12629299</li>	2
Q0VG99			<li>A->G at 66</li><li>L->V at 125: in an STD patient; inactive</li><li>S->F at 220</li>							<li>P52842</li><li>Q06520</li><li>P50234</li>			2
Q0VGE8			<li>N->I at 80: in dbSNP:rs12459008</li><li>L->S at 162: in dbSNP:rs11084210</li>									<li>rs12459008</li><li>rs11084210</li>	2
Q0ZGT2	91624		<li>G->R at 245: in dbSNP:rs1166698</li>									rs1166698	2
Q0ZLH3	494513		<li>T->I at 54: in DFNB59, MIM: 610220</li><li>R->W at 183: in DFNB59, MIM: 610220</li><li>R->C at 265: in dbSNP:rs17304212, MIM: 610220</li>							Q0ZLH3	Non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59) [MIM:610220]	rs17304212	2
Q10469	4247		<li>H->R at 262: in CDG2A, MIM: 212066</li><li>S->F at 290: in CDG2A, MIM: 212066</li><li>N->D at 318: in CDG2A, MIM: 212066</li>								Congenital disorder of glycosylation type 2A (CDG2A) [MIM:212066]		2
Q10471	2590		<li>R->H at 245: in dbSNP:rs1923950</li><li>V->M at 554: in dbSNP:rs2273970</li>									<li>rs1923950</li><li>rs2273970</li>	2
Q10472	2589		<li>Y->D at 414: in dbSNP:rs34304568</li>									rs34304568	2
Q10571	4330		<li>Q->H at 382: in dbSNP:rs45589338</li>									rs45589338	2
Q10588	683		<li>A->V at 77: in dbSNP:rs2302466</li><li>I->V at 101: in dbSNP:rs6840615</li><li>R->H at 125: in dbSNP:rs2302465</li><li>R->Q at 145: in dbSNP:rs2302464</li>									<li>rs2302466</li><li>rs6840615</li><li>rs2302465</li><li>rs2302464</li>	2
Q10589	684		<li>V->F at 143: in dbSNP:rs1804402</li>									rs1804402	2
Q10981	2524		<li>I->V at 25: polymorphism found in Xhosa population; dbSNP:rs1800021</li><li>R->C at 138: polymorphism found in Xhosa population; dbSNP:rs1800022</li><li>I->F at 140: in allele Sej; non-secretor phenotype; dbSNP:rs1047781</li><li>D->N at 172: polymorphism found in Xhosa population; dbSNP:rs1800025</li><li>G->S at 258: in dbSNP:rs602662</li>									<li>rs602662</li><li>rs1047781</li><li>rs1800021</li><li>rs1800025</li><li>rs1800022</li>	2
Q11128	2527		<li>P->L at 187: in dbSNP:rs778970</li>									rs778970	2
Q11201	6482		<li>N->S at 111: in dbSNP:rs45523131</li>									rs45523131	2
Q12765	9805		<li>Q->R at 338: in dbSNP:rs17324153</li>									rs17324153	2
Q12767	9772		<li>I->T at 1040: in dbSNP:rs8073809</li>									rs8073809	2
Q12768	9897		<li>N->D at 471: in SPG8, MIM: 603563</li><li>L->F at 619: in SPG8; fails to rescue the curly phenotype in a zebrafish model, MIM: 603563</li><li>V->F at 626: in SPG8; fails to rescue the curly phenotype in a zebrafish model, MIM: 603563</li>								Autosomal dominant spastic paraplegia type 8 (SPG8) [MIM:603563]		2
Q12770	22937		<li>V->I at 798: in dbSNP rsrs12487736</li>									rs12487736	2
Q12788	10607		<li>Q->R at 293: in dbSNP:rs2230086</li><li>E->Q at 294: in dbSNP:rs8052713</li><li>S->P at 457: in dbSNP:rs17605</li>									<li>rs8052713</li><li>rs17605</li><li>rs2230086</li>	2
Q12789	2975		<li>Q->E at 1889: in dbSNP:rs35233306</li><li>F->S at 1959: in dbSNP:rs12919017</li><li>E->K at 2077: in dbSNP:rs2228248</li>									<li>rs2228248</li><li>rs35233306</li><li>rs12919017</li>	2
Q12794	3373		<li>E->K at 268: in MPS9, MIM: 601492</li>								Mucopolysaccharidosis type 9 (MPS9) [MIM:601492]		2
Q12797	444		<li>R->M at 354: in dbSNP:rs6995412</li>									rs6995412	2
Q12805	2202		<li>I->F at 220</li><li>R->W at 345: in DHRD, MIM: 126600</li>								Doyne honeycomb retinal dystrophy (DHRD) [MIM:126600]		2
Q12816	7216		<li>S->G at 738: in dbSNP:rs17297490</li>									rs17297490	2
Q12834	991		<li>V->M at 402: in dbSNP rsrs45443196</li><li>R->Q at 479: in dbSNP rsrs45461499</li>									<li>rs45461499</li><li>rs45443196</li>	2
Q12836	57829		<li>A->V at 114: in dbSNP:rs34370253</li><li>P->S at 295: in dbSNP:rs34811980</li>									<li>rs34811980</li><li>rs34370253</li>	2
Q12849	2926		<li>D->Y at 277: in dbSNP:rs17854012</li>									rs17854012	2
Q12852	7786		<li>E->K at 409: in a breast pleomorphic lobular carcinoma sample; somatic mutation</li><li>G->R at 628: in dbSNP rsrs34366500</li><li>G->S at 640: in dbSNP rsrs55794887</li>									<li>rs55794887</li><li>rs34366500</li>	2
Q12860	1272		<li>P->H at 794: in a colorectal cancer sample; somatic mutation</li><li>V->L at 798: in dbSNP:rs1056020</li><li>E->G at 824: in dbSNP:rs11553341</li>									<li>rs1056020</li><li>rs11553341</li>	2
Q12864	1015		<li>I->T at 446: in dbSNP:rs1131829</li><li>D->E at 734: in dbSNP:rs1051623</li><li>E->A at 739: in dbSNP:rs1051624</li>									<li>rs1051624</li><li>rs1131829</li><li>rs1051623</li>	2
Q12866	10461		<li>R->S at 20: in dbSNP:rs35898499</li><li>S->N at 118: in dbSNP:rs13027171</li><li>V->M at 185: in dbSNP rsrs56205303</li><li>A->T at 282</li><li>E->K at 289</li><li>R->H at 293: in dbSNP:rs34072093</li><li>N->S at 329: in dbSNP:rs34943572</li><li>A->G at 446: in a renal clear cell carcinoma sample; somatic mutation</li><li>V->L at 452: in dbSNP rsrs34010621</li><li>R->K at 466: in dbSNP:rs7604639</li><li>N->S at 498: in dbSNP:rs35858762</li><li>I->V at 518: in dbSNP:rs2230515</li><li>E->K at 540: in RP, MIM: 268000</li><li>S->C at 661: in RP, MIM: 268000</li><li>Q->E at 662: in dbSNP rsrs56209758, MIM: 268000</li><li>A->S at 708: in a head & Neck squamous cell carcinoma sample; somatic mutation, MIM: 268000</li><li>E->Q at 823: in dbSNP rsrs55924349, MIM: 268000</li><li>R->W at 865: in dbSNP:rs2230516, MIM: 268000</li><li>V->I at 870: in dbSNP:rs2230517, MIM: 268000</li><li>I->T at 871: in RP, MIM: 268000</li><li>I->V at 871, MIM: 268000</li>								Retinitis pigmentosa (RP) [MIM:268000]	<li>rs56209758</li><li>rs35858762</li><li>rs2230516</li><li>rs34072093</li><li>rs34943572</li><li>rs7604639</li><li>rs2230517</li><li>rs2230515</li><li>rs35898499</li><li>rs34010621</li><li>rs56205303</li><li>rs13027171</li><li>rs55924349</li>	2
Q12872	6433		<li>Q->L at 52: in dbSNP:rs1051207</li><li>L->F at 122: in dbSNP:rs1051314</li><li>F->L at 136: in dbSNP:rs1131564</li><li>P->L at 421: in dbSNP:rs1982528</li>									<li>rs1051314</li><li>rs1051207</li><li>rs1131564</li><li>rs1982528</li>	2
Q12873	1107		<li>A->V at 3: in dbSNP:rs931543</li>									rs931543	2
Q12879	2903		<li>K->E at 270</li>										2
Q12882	1806		<li>C->R at 29: in allele DPYD*9A and allele DPYD*9B; loss of activity; dbSNP:rs1801265</li><li>M->V at 166: in dbSNP:rs2297595</li><li>R->W at 235: in allele DPYD*8; loss of activity; dbSNP:rs1801266</li><li>S->N at 534: in allele DPYD*4; low activity; dbSNP:rs1801158</li><li>I->V at 543: in allele DPYD*5; dbSNP:rs1801159</li><li>V->I at 732: in dbSNP:rs1801160</li><li>R->H at 886: in allele DPYD*9B; 25% of activity; dbSNP:rs1801267</li><li>V->F at 995: in allele DPYD*10; low activity; dbSNP:rs1801268</li>							<li>Q28007</li><li>Q12882</li><li>Q28943</li>		<li>rs2297595</li><li>rs1801160</li><li>rs1801266</li><li>rs1801265</li><li>rs1801268</li><li>rs1801267</li><li>rs1801159</li><li>rs1801158</li>	2
Q12887	1352		<li>T->K at 196: in COX deficiency, MIM: 220110</li><li>N->K at 204: in COX deficiency, MIM: 220110</li><li>P->L at 225: in COX deficiency, MIM: 220110</li><li>D->G at 336: in COX deficiency; associated with Leigh syndrome, MIM: 220110</li><li>D->V at 336: in COX deficiency; associated with Leigh syndrome, MIM: 220110</li>							<li>P36552</li><li>P36551</li><li>Q9UTE2</li><li>Q9V3D2</li><li>P11353</li>	Cytochrome c oxidase deficiency (COX deficiency) [MIM:220110]		2
Q12889	5016		<li>D->E at 332: in dbSNP:rs17027633</li><li>M->T at 477: in dbSNP:rs2485319</li><li>M->V at 479: in dbSNP:rs3767607</li><li>Y->H at 514: in dbSNP:rs1126656</li><li>S->G at 536: in dbSNP:rs3767609</li><li>H->Q at 604: in dbSNP:rs10067</li><li>L->H at 662: in a colorectal cancer sample; somatic mutation</li><li>E->Q at 676: in dbSNP:rs7825</li>									<li>rs10067</li><li>rs3767609</li><li>rs17027633</li><li>rs7825</li><li>rs1126656</li><li>rs2485319</li><li>rs3767607</li>	2
Q12891	8692		<li>A->S at 18: in dbSNP:rs709210</li>									rs709210	2
Q12894	7866		<li>R->Q at 438: in dbSNP:rs2229648</li>									rs2229648	2
Q12899	7726		<li>Q->H at 197: in dbSNP:rs17194565</li>									rs17194565	2
Q12901			<li>H->R at 474: in a colorectal cancer sample; somatic mutation</li>										2
Q12904	9255		<li>P->A at 79: in dbSNP:rs1134648</li><li>T->A at 104: in dbSNP:rs2230254</li><li>T->A at 117: in dbSNP:rs2230255</li>									<li>rs2230254</li><li>rs1134648</li><li>rs2230255</li>	2
Q12906	3609		<li>D->H at 50: in dbSNP:rs1064493</li><li>A->S at 501: in dbSNP:rs34520379</li>									<li>rs34520379</li><li>rs1064493</li>	2
Q12913	5795		<li>R->C at 214: in colon cancer; somatic mutation</li><li>Q->P at 276: in colon cancer; somatic mutation; dbSNP:rs1566734</li><li>A->T at 293: in dbSNP:rs2229701</li><li>R->Q at 326: in dbSNP:rs1503185</li><li>V->I at 372: in dbSNP:rs2229703</li><li>E->D at 872: in dbSNP:rs4752904</li><li>I->T at 1235: in dbSNP:rs11039554</li>									<li>rs11039554</li><li>rs2229703</li><li>rs2229701</li><li>rs1566734</li><li>rs1503185</li><li>rs4752904</li>	2
Q12918	3820		<li>I->T at 168: in dbSNP:rs1135816</li>									rs1135816	2
Q12923	5783		<li>F->L at 1356: in dbSNP:rs10033029</li><li>L->P at 1419</li><li>I->M at 1522: in dbSNP:rs2230600</li><li>E->K at 1625: in dbSNP:rs12500797</li><li>S->P at 1744: in dbSNP:rs17012064</li><li>Y->D at 2081: in dbSNP:rs989902</li><li>I->V at 2458: in dbSNP:rs34226837</li>									<li>rs2230600</li><li>rs10033029</li><li>rs12500797</li><li>rs989902</li><li>rs17012064</li><li>rs34226837</li>	2
Q12929	2059		<li>D->E at 761: in dbSNP:rs7137185</li><li>A->S at 806: in dbSNP:rs1802658</li>									<li>rs1802658</li><li>rs7137185</li>	2
Q12931	10131		<li>R->G at 307: in dbSNP:rs13926</li><li>D->E at 395: in dbSNP:rs1136948</li><li>R->H at 692: in dbSNP:rs2791</li>									<li>rs1136948</li><li>rs2791</li><li>rs13926</li>	2
Q12934	631		<li>G->S at 345: in dbSNP:rs6080719</li><li>D->E at 656: in dbSNP:rs16999317</li>									<li>rs16999317</li><li>rs6080719</li>	2
Q12948	2296		<li>S->T at 82: in ARS, MIM: 601090</li><li>I->M at 87: in ARS, MIM: 601090</li><li>F->S at 112: in IGDA and Peters anomaly, MIM: 604229</li><li>I->M at 126: in ARS; with glaucoma, MIM: 601090</li><li>S->L at 131: in ARS; with glaucoma, MIM: 601090</li><li>M->K at 161, MIM: 601090</li>							<li>P50473</li><li>P55000</li><li>P14000</li>	<li>Peters anomaly [MIM:604229]</li><li>Iridogoniodysgenesis anomaly (IGDA) [MIM:601631]</li><li>Axenfeld-Rieger syndrome (ARS) [MIM:601090]</li>		2
Q12950	2298		<li>I->F at 134: in dbSNP:rs10959293</li><li>G->D at 136: in dbSNP:rs2492216</li><li>I->V at 152: in dbSNP:rs7031810</li>									<li>rs2492216</li><li>rs10959293</li><li>rs7031810</li>	2
Q12951	2299		<li>P->S at 243: in dbSNP:rs35678180</li><li>N->S at 362: in dbSNP:rs3828625</li>									<li>rs35678180</li><li>rs3828625</li>	2
Q12967	5900		<li>R->L at 496: in a colorectal cancer sample; somatic mutation</li>										2
Q12968	4775		<li>S->L at 75: in dbSNP:rs2230092</li><li>E->A at 94: in dbSNP:rs3743736</li><li>L->S at 100: in dbSNP:rs2230093</li><li>P->L at 136: in dbSNP:rs2230094</li><li>P->S at 382: in dbSNP:rs2230095</li>									<li>rs2230094</li><li>rs2230093</li><li>rs2230095</li><li>rs2230092</li><li>rs3743736</li>	2
Q12982	663		<li>S->T at 24: in dbSNP:rs6151509</li>									rs6151509	2
Q13002	2898		<li>E->Q at 187: in a breast cancer sample; somatic mutation</li><li>I->V at 567: in RNA edited version</li><li>Y->C at 571: in RNA edited version</li><li>Q->R at 621: in RNA edited version</li><li>V->I at 766: in dbSNP:rs3213608</li><li>M->I at 867: in dbSNP:rs2235076</li>									<li>rs3213608</li><li>rs2235076</li>	2
Q13003	2899		<li>R->H at 215: in a colorectal cancer sample; somatic mutation</li><li>S->A at 310: in dbSNP:rs6691840</li><li>R->Q at 352: in RNA edited version</li><li>D->H at 391: in a breast cancer sample; somatic mutation</li>									rs6691840	2
Q13007	11009		<li>Y->H at 124: in dbSNP:rs1150258</li><li>H->R at 125: in dbSNP:rs3093431</li><li>V->L at 131: in dbSNP:rs3093446</li>									<li>rs1150258</li><li>rs3093446</li><li>rs3093431</li>	2
Q13009	7074		<li>G->R at 247: in dbSNP:rs2070418</li><li>G->V at 247: in dbSNP:rs2070417</li><li>R->C at 678: in a colorectal cancer sample; somatic mutation</li><li>Q->H at 844: in dbSNP:rs16987932</li><li>A->V at 1339: in a colorectal cancer sample; somatic mutation</li>									<li>rs16987932</li><li>rs2070418</li><li>rs2070417</li>	2
Q13011	1891		<li>E->A at 41: in dbSNP:rs9419</li><li>G->R at 217: in dbSNP:rs2229259</li>									<li>rs2229259</li><li>rs9419</li>	2
Q13017	394		<li>I->V at 17: in dbSNP:rs17386818</li>									rs17386818	2
Q13018	22925		<li>R->Q at 142: in dbSNP:rs12327936</li><li>P->S at 177: in dbSNP:rs13394676</li><li>I->V at 279: in dbSNP:rs965290</li><li>M->V at 292: in dbSNP:rs3749117</li><li>H->D at 300: in dbSNP:rs35771982</li><li>R->H at 404: in dbSNP:rs33985939</li><li>G->S at 1106: in dbSNP:rs3828323</li>									<li>rs33985939</li><li>rs12327936</li><li>rs13394676</li><li>rs3749117</li><li>rs965290</li><li>rs3828323</li><li>rs35771982</li>	2
Q13023	9472		<li>A->V at 337: in dbSNP:rs3742926</li><li>N->S at 408: in dbSNP:rs17099240</li><li>N->D at 558: in dbSNP:rs35210906</li><li>E->K at 892: in dbSNP:rs34572259</li><li>K->M at 910: in a breast cancer sample; somatic mutation</li><li>M->I at 1192: in a breast cancer sample; somatic mutation</li><li>A->V at 1492: in dbSNP:rs11845640</li><li>T->A at 1516: in dbSNP:rs17099587</li><li>V->I at 1522: in dbSNP:rs34711402</li><li>E->Q at 1702: in a breast cancer sample; somatic mutation</li><li>P->T at 1839: in a colorectal cancer sample; somatic mutation</li><li>N->D at 2035: in dbSNP:rs1051695</li><li>F->Y at 2171: in dbSNP:rs4647899</li><li>D->H at 2209: in dbSNP:rs4402458</li><li>E->D at 2267: in dbSNP:rs35977369</li>									<li>rs1051695</li><li>rs35977369</li><li>rs17099587</li><li>rs35210906</li><li>rs4647899</li><li>rs11845640</li><li>rs17099240</li><li>rs4402458</li><li>rs3742926</li><li>rs34572259</li><li>rs34711402</li>	2
Q13049	22954		<li>P->S at 130: in BBS11; this mutation maintains the self-interaction, MIM: 209900</li><li>T->R at 257: in dbSNP:rs3747834, MIM: 209900</li><li>R->H at 394: in LGMD2H; this mutation abolishes self-binding; interaction with UBE2N is similarly impaired, MIM: 254110</li><li>R->C at 408: in dbSNP:rs3747835, MIM: 254110</li><li>D->N at 487: in LGMD2H; this mutation abolishes self-binding; interaction with UBE2N is similarly impaired, MIM: 254110</li><li>Missing  at 588: in LGMD2H, MIM: 254110</li>			binding	GO:0005488			<li>Q5R7J6</li><li>P61088</li><li>Q4R4I1</li>	<li>Limb-girdle muscular dystrophy type 2H (LGMD2H) [MIM:254110]</li><li>Bardet-Biedl syndrome type 11 (BBS11) [MIM:209900]</li>	<li>rs3747835</li><li>rs3747834</li>	2
Q13057	80347		<li>S->Y at 55: in dbSNP:rs615942</li>									rs615942	2
Q13064	7681		<li>T->M at 145: in a colorectal cancer sample; somatic mutation</li><li>S->T at 239: in a colorectal cancer sample; somatic mutation</li>										2
Q13075	4671		<li>V->M at 535</li>										2
Q13077	7185		<li>M->T at 139</li>										2
Q13084	10573		<li>H->Y at 27: in dbSNP:rs3194151</li><li>D->E at 160: in dbSNP:rs11557302</li>									<li>rs3194151</li><li>rs11557302</li>	2
Q13087	64714		<li>P->S at 39: in dbSNP:rs45455191</li><li>T->R at 119: in dbSNP:rs45614840</li><li>E->K at 185: in dbSNP:rs419949</li><li>T->M at 286: in dbSNP:rs2685127</li><li>P->A at 382: in dbSNP:rs45529833</li><li>R->Q at 388: in dbSNP:rs400037</li><li>P->S at 502: in dbSNP:rs1048786</li>									<li>rs400037</li><li>rs419949</li><li>rs45455191</li><li>rs45529833</li><li>rs45614840</li><li>rs1048786</li><li>rs2685127</li>	2
Q13099	8100		<li>M->I at 383: in dbSNP:rs2442455</li><li>S->N at 455: in dbSNP:rs9509307</li><li>S->G at 671: in dbSNP:rs9552254</li>									<li>rs9552254</li><li>rs9509307</li><li>rs2442455</li>	2
Q13103	6694		<li>S->F at 38: in dbSNP rsrs34347825</li>									rs34347825	2
Q13106	7710		<li>G->V at 122: in dbSNP:rs2074078</li><li>L->V at 182: in dbSNP:rs2188736</li><li>P->L at 384: in dbSNP:rs34746514</li>									<li>rs2188736</li><li>rs34746514</li><li>rs2074078</li>	2
Q13112	8208		<li>K->Q at 506: in dbSNP:rs2230638</li>									rs2230638	2
Q13114	7187		<li>M->T at 129: in dbSNP:rs1131877</li>									rs1131877	2
Q13118	7071		<li>S->F at 249: in dbSNP:rs4734653</li>									rs4734653	2
Q13126	4507		<li>V->I at 56: in dbSNP:rs7023954</li>									rs7023954	2
Q13127	5978		<li>V->I at 626: in dbSNP:rs2228991</li><li>E->D at 692: in dbSNP:rs2227902</li><li>Q->K at 762: in dbSNP:rs2227903</li><li>P->L at 797: in dbSNP:rs3796529</li>									<li>rs2227902</li><li>rs2227903</li><li>rs3796529</li><li>rs2228991</li>	2
Q13129	6018		<li>R->K at 668: in dbSNP:rs35189918</li><li>V->A at 932: in dbSNP:rs35563960</li><li>G->D at 957: in dbSNP:rs35042446</li><li>E->D at 1784: in dbSNP:rs10889205</li>									<li>rs35563960</li><li>rs35042446</li><li>rs35189918</li><li>rs10889205</li>	2
Q13131	5562		<li>Q->R at 7: in a breast cancer sample; somatic mutation</li>										2
Q13133	10062		<li>G->V at 52: in dbSNP:rs41481445</li>									rs41481445	2
Q13136	8500		<li>V->I at 71: in dbSNP:rs546502</li><li>L->F at 1072: in dbSNP:rs11236045</li>									<li>rs11236045</li><li>rs546502</li>	2
Q13144	8893		<li>V->G at 73: in VWM, MIM: 603896</li><li>T->A at 91: in VWM: in dbSNP rsrs28939717, MIM: 603896</li><li>L->F at 106: in VWM, MIM: 603896</li><li>R->H at 113: in VWM and ovarioleukodystrophy, MIM: 603896</li><li>R->C at 195: in ovarian failure, MIM: 603896</li><li>R->H at 195: in CLE, MIM: 603896</li><li>N->T at 200: in dbSNP:rs2971409, MIM: 603896</li><li>R->H at 299: in VWM, MIM: 603896</li><li>R->G at 315: in VWM, MIM: 603896</li><li>R->H at 315: in VWM, MIM: 603896</li><li>R->P at 339: in VWM, MIM: 603896</li><li>R->Q at 339: in VWM, MIM: 603896</li><li>R->W at 339: in VWM, MIM: 603896</li><li>G->V at 386: in VWM, MIM: 603896</li><li>V->A at 430: in VWM, MIM: 603896</li><li>I->V at 587: in dbSNP:rs843358, MIM: 603896</li><li>W->R at 628: in VWM: in dbSNP rsrs28937596, MIM: 603896</li><li>E->K at 650: in VWM, MIM: 603896</li>								<li>Cree leukoencephalopathy (CLE) [MIM:603896]</li><li>Leukoencephalopathy with vanishing white matter (VWM) [MIM:603896]</li><li>Ovarioleukodystrophy [MIM:603896]</li>	<li>rs28937596</li><li>rs2971409</li><li>rs843358</li><li>rs28939717</li>	2
Q13155	7965		<li>A->G at 129: in dbSNP:rs17855441</li><li>L->I at 166: in dbSNP:rs34525431</li>									<li>rs34525431</li><li>rs17855441</li>	2
Q13156	29935		<li>A->T at 33: in dbSNP:rs2642219</li>									rs2642219	2
Q13183	9058		<li>L->F at 44: in dbSNP:rs45443898</li><li>M->L at 45: in dbSNP:rs16964363</li><li>F->L at 254: in dbSNP:rs11568461</li><li>A->P at 310: in dbSNP:rs11568441</li><li>P->S at 385: in dbSNP:rs45546232</li><li>V->M at 477: in dbSNP:rs11568476</li><li>I->V at 550: in dbSNP:rs11567842</li>									<li>rs16964363</li><li>rs45443898</li><li>rs45546232</li><li>rs11568441</li><li>rs11568461</li><li>rs11568476</li><li>rs11567842</li>	2
Q13190	6811		<li>P->L at 51: in dbSNP:rs3802945</li><li>Q->H at 72: in dbSNP:rs11231241</li><li>Q->H at 79: in a breast cancer sample; somatic mutation</li>									<li>rs11231241</li><li>rs3802945</li>	2
Q13200	5708		<li>A->T at 176: in dbSNP:rs11545172</li><li>E->D at 313: in dbSNP:rs11545169</li>									<li>rs11545169</li><li>rs11545172</li>	2
Q13201	22915		<li>T->A at 58: in dbSNP:rs1442138</li><li>T->A at 805: in dbSNP:rs3756065</li><li>G->D at 883: in dbSNP:rs12646270</li><li>T->R at 964: in dbSNP:rs17855885</li>									<li>rs12646270</li><li>rs3756065</li><li>rs17855885</li><li>rs1442138</li>	2
Q13203	4608		<li>Q->H at 48: in dbSNP:rs2788532</li><li>A->G at 49: in dbSNP:rs2791721</li><li>A->G at 114: in dbSNP:rs2642531</li>									<li>rs2791721</li><li>rs2788532</li><li>rs2642531</li>	2
Q13206	1662		<li>L->V at 566: in a breast cancer sample; somatic mutation</li>										2
Q13214	7869		<li>R->C at 348: in NSCLC</li><li>D->H at 397: in NSCLC</li><li>T->I at 415: in NSCLC</li>										2
Q13216	1161		<li>S->C at 150: in dbSNP:rs167037</li><li>A->V at 160: in CSA, MIM: 216400</li><li>Y->C at 200: in dbSNP:rs4647105, MIM: 216400</li><li>A->P at 205: in CSA, MIM: 216400</li>							<li>Q06652</li><li>Q1E8D2</li><li>P08796</li><li>Q13216</li><li>Q00398</li>	Cockayne syndrome type A (CSA) [MIM:216400]	<li>rs167037</li><li>rs4647105</li>	2
Q13219	5069		<li>S->R at 944</li><li>S->Y at 1224: in dbSNP:rs7020782</li>									rs7020782	2
Q13224	2904		<li>S->N at 407</li>										2
Q13227	2874		<li>T->A at 306: in dbSNP:rs2292065</li>									rs2292065	2
Q13231	1118		<li>R->H at 40: in dbSNP:rs35920428</li><li>G->S at 102: in dbSNP:rs2297950</li><li>Q->H at 171: in dbSNP:rs12562058</li><li>A->G at 442: in dbSNP:rs1065761</li>									<li>rs1065761</li><li>rs35920428</li><li>rs12562058</li><li>rs2297950</li>	2
Q13233	4214		<li>S->N at 92</li><li>C->S at 443</li><li>D->N at 806: in dbSNP:rs702689</li><li>V->I at 906: in dbSNP:rs832582</li>									<li>rs832582</li><li>rs702689</li>	2
Q13237	5593		<li>T->S at 22: in dbSNP:rs34956759</li><li>H->R at 106: in dbSNP rsrs34616910</li><li>W->R at 716: in a colorectal adenocarcinoma sample; somatic mutation</li>									<li>rs34956759</li><li>rs34616910</li>	2
Q13241	3824		<li>A->S at 25: in dbSNP:rs10772256</li>									rs10772256	2
Q13243	6430		<li>A->S at 160: in dbSNP:rs1057683</li>									rs1057683	2
Q13247	6431		<li>R->Q at 145: in a colorectal cancer sample; somatic mutation</li>										2
Q13253	9241		<li>P->A at 35: in BDB2, MIM: 611377</li><li>P->R at 35: in SYM1 and TCC, MIM: 186570</li><li>P->S at 35: in SYM1 and BDB2; dbSNP:rs28937580, MIM: 185800</li><li>A->P at 36: in BDB2, MIM: 611377</li><li>E->K at 48: in BDB2, MIM: 611377</li><li>R->G at 167: in BDB2, MIM: 611377</li><li>C->Y at 184: in SYM1; sporadic; de novo mutation, MIM: 185800</li><li>P->S at 187: in BDB2, MIM: 611377</li><li>G->C at 189: in SYM1, MIM: 185800</li><li>R->L at 204: in TCC, MIM: 186570</li><li>W->C at 205: in SYM1, MIM: 185800</li><li>W->G at 217: in SYNS1, MIM: 186500</li><li>I->N at 220: in SYM1, MIM: 185800</li><li>Y->C at 222: in SYM1 and TCC, MIM: 186570</li><li>Y->D at 222: in SYM1, MIM: 185800</li><li>P->L at 223: in SYM1, MIM: 185800</li>							<li>Q4P9K6</li><li>Q6FXJ3</li><li>Q59Q43</li><li>Q9H9B4</li><li>Q6BMY0</li><li>Q6CAW5</li><li>Q63965</li><li>Q6CIY7</li><li>Q5KND6</li><li>Q4IPX8</li><li>Q06563</li><li>Q754F0</li>	<li>Tarsal-carpal coalition syndrome (TCC) [MIM:186570]</li><li>Symphalangism proximal syndrome (SYM1) [MIM:185800]</li><li>Multiple synostoses syndrome 1 (SYNS1) [MIM:186500]</li><li>Brachydactyly type B2 (BDB2) [MIM:611377]</li>	rs28937580	2
Q13255	2911		<li>S->Y at 34: in dbSNP:rs12190109</li><li>R->K at 285: in dbSNP:rs7760248</li><li>R->W at 696: in a colorectal cancer sample; somatic mutation</li><li>E->D at 741: in dbSNP:rs3025919</li><li>G->E at 884: in dbSNP:rs362936</li><li>V->I at 929: in dbSNP:rs2941</li><li>P->S at 993: in dbSNP:rs6923492</li>									<li>rs3025919</li><li>rs7760248</li><li>rs6923492</li><li>rs2941</li><li>rs12190109</li><li>rs362936</li>	2
Q13258	5729		<li>R->C at 7: in dbSNP:rs41311442</li><li>G->E at 198: in dbSNP rsrs41312444</li><li>E->A at 301: in dbSNP:rs41312504</li><li>R->Q at 332: in dbSNP rsrs41312506</li>									<li>rs41311442</li><li>rs41312504</li><li>rs41312444</li><li>rs41312506</li>	2
Q13263	10155		<li>T->M at 794: in dbSNP rsrs56229738</li>									rs56229738	2
Q13268			<li>A->V at 250: in a colorectal cancer sample; somatic mutation</li>										2
Q13275	6405		<li>A->G at 474: in dbSNP:rs1046955</li><li>L->M at 503: in dbSNP:rs1046956</li>									<li>rs1046956</li><li>rs1046955</li>	2
Q13277	6809		<li>E->D at 83: in dbSNP:rs12282741</li><li>G->S at 276: in dbSNP:rs34563654</li><li>S->P at 285: in dbSNP:rs34753750</li>									<li>rs34563654</li><li>rs34753750</li><li>rs12282741</li>	2
Q13286	1201		<li>L->P at 101: in Batten disease, MIM: 204200</li><li>L->P at 170: in Batten disease, MIM: 204200</li><li>E->K at 295: in Batten disease, MIM: 204200</li><li>V->F at 330: in Batten disease, MIM: 204200</li><li>R->C at 334: in Batten disease, MIM: 204200</li><li>R->H at 334: in Batten disease, MIM: 204200</li>								Batten disease [MIM:204200]		2
Q13287	9111		<li>S->L at 16: in dbSNP:rs1048135</li>									rs1048135	2
Q13291	6504		<li>F->L at 11: in dbSNP:rs2295612</li><li>L->F at 81: in a breast cancer sample; somatic mutation</li><li>P->T at 333: in dbSNP:rs3796504</li>									<li>rs2295612</li><li>rs3796504</li>	2
Q13303	8514		<li>E->K at 88: in dbSNP:rs2229003</li>									rs2229003	2
Q13308	5754		<li>R->H at 276: in dbSNP rsrs56188167</li><li>T->S at 410</li><li>E->D at 745: in dbSNP:rs9472017</li><li>E->Q at 766: in dbSNP rsrs56216742</li><li>A->V at 777: in dbSNP rsrs34764696</li><li>H->R at 783: in dbSNP rsrs55820547</li><li>A->V at 933: in a colorectal adenocarcinoma sample; somatic mutation</li><li>P->T at 1029: in dbSNP rsrs55755163</li><li>R->Q at 1038: in dbSNP:rs34865794</li>									<li>rs55755163</li><li>rs55820547</li><li>rs56216742</li><li>rs9472017</li><li>rs34865794</li><li>rs34764696</li><li>rs56188167</li>	2
Q13309	6502		<li>P->L at 85: in dbSNP:rs3913486</li><li>L->I at 87: in dbSNP:rs3913487</li>									<li>rs3913486</li><li>rs3913487</li>	2
Q13310	8761		<li>Y->F at 382: in dbSNP:rs9820</li>									rs9820	2
Q13316	1758		<li>S->C at 69: in dbSNP:rs10019009</li><li>D->N at 117: in one individual with tumoral calcinosis</li><li>R->H at 272</li><li>K->R at 463: in dbSNP:rs34661425</li>									<li>rs34661425</li><li>rs10019009</li>	2
Q13322	2887		<li>P->L at 36: in dbSNP:rs35647889</li><li>D->H at 558: in dbSNP:rs11768472</li>									<li>rs35647889</li><li>rs11768472</li>	2
Q13323	638		<li>E->K at 19: in dbSNP:rs4988415</li><li>T->I at 26: in dbSNP:rs11090143</li><li>L->P at 148: in dbSNP:rs11574527</li>									<li>rs4988415</li><li>rs11090143</li><li>rs11574527</li>	2
Q13324	1395		<li>E->D at 220: in dbSNP:rs34625936</li>									rs34625936	2
Q13326	6445		<li>G->D at 69: in LGMD2C, MIM: 253700</li><li>G->R at 69: in LGMD2C, MIM: 253700</li><li>R->H at 116: in dbSNP:rs17314986, MIM: 253700</li><li>C->Y at 283: in LGMD2C, MIM: 253700</li><li>S->N at 287: in dbSNP:rs1800354, MIM: 253700</li>								Limb-girdle muscular dystrophy type 2C (LGMD2C) [MIM:253700]	<li>rs17314986</li><li>rs1800354</li>	2
Q13332			<li>T->M at 996: in a colorectal cancer sample; somatic mutation</li><li>R->C at 1457: in dbSNP:rs4807697</li>									rs4807697	2
Q13336	6563		<li>E->K at 44: in dbSNP:rs2298720</li><li>M->V at 167: in dbSNP:rs2298719</li><li>W->R at 171: in dbSNP:rs9948825</li><li>D->N at 280: in Jk: in dbSNP rsrs1058396</li><li>S->P at 291: in Jk</li>									<li>rs1058396</li><li>rs2298719</li><li>rs2298720</li><li>rs9948825</li>	2
Q13351	10661		<li>S->P at 102: in dbSNP:rs2072597</li><li>F->L at 182: in dbSNP:rs2072596</li>									<li>rs2072596</li><li>rs2072597</li>	2
Q13360	7730		<li>D->G at 94: in dbSNP:rs2230750</li><li>T->M at 112: in dbSNP:rs2217652</li>									<li>rs2230750</li><li>rs2217652</li>	2
Q13361	8076		<li>V->D at 61: in a breast cancer sample; somatic mutation</li>										2
Q13362	5527		<li>A->P at 515: in dbSNP:rs3742424</li>									rs3742424	2
Q13368	4356		<li>R->G at 585: in dbSNP:rs17742683</li>									rs17742683	2
Q13370	5140		<li>A->V at 87: in dbSNP:rs1056584</li>									rs1056584	2
Q13371	5082		<li>K->N at 218: in dbSNP:rs4466466</li>									rs4466466	2
Q13387	23542		<li>P->L at 743: in dbSNP:rs1140555</li>									rs1140555	2
Q13393	5337		<li>P->A at 49: in dbSNP:rs9819927</li><li>A->S at 622: in dbSNP:rs2290480</li><li>V->M at 820: in dbSNP:rs2287579</li><li>V->I at 1024: in dbSNP:rs9827333</li>									<li>rs9827333</li><li>rs2287579</li><li>rs2290480</li><li>rs9819927</li>	2
Q13394	4081		<li>S->P at 70: in dbSNP:rs1065316</li>									rs1065316	2
Q13395	6894		<li>L->P at 221: in dbSNP:rs12082990</li><li>A->T at 425: in dbSNP:rs10910439</li><li>S->G at 678: in dbSNP:rs4920246</li><li>N->S at 743: in dbSNP:rs2273872</li><li>H->P at 864: in dbSNP:rs4272658</li><li>F->L at 997: in dbSNP:rs12135427</li><li>T->I at 1038: in dbSNP:rs3820602</li><li>I->V at 1359: in dbSNP:rs3738616</li><li>I->V at 1461: in dbSNP:rs2275654</li>									<li>rs12082990</li><li>rs2275654</li><li>rs4272658</li><li>rs10910439</li><li>rs2273872</li><li>rs4920246</li><li>rs3738616</li><li>rs3820602</li><li>rs12135427</li>	2
Q13398	10520		<li>D->N at 110: in dbSNP:rs34897843</li>									rs34897843	2
Q13402	4647		<li>L->S at 16: in USH1B; heterozygosity approaching 50%; dbSNP:rs1052030, MIM: 276900</li><li>G->R at 25: in USH1B, MIM: 276900</li><li>A->E at 26: in USH1B, MIM: 276900</li><li>V->M at 67: in USH1B, MIM: 276900</li><li>R->P at 90: in USH1B, MIM: 276900</li><li>H->D at 133: in USH1B; the deleterious effect remains to be proven, MIM: 276900</li><li>I->N at 134: in USH1B, MIM: 276900</li><li>G->R at 163: in USH1B, MIM: 276900</li><li>K->R at 164: in USH1B, MIM: 276900</li><li>T->M at 165: in USH1B, MIM: 276900</li><li>A->T at 198: in USH1B; is predicted to alter the normal splicing of exon 6, MIM: 276900</li><li>T->A at 204: in USH1B, MIM: 276900</li><li>I->V at 205, MIM: 276900</li><li>R->C at 212: in USH1B; frequent mutation, MIM: 276900</li><li>R->H at 212: in USH1B; frequent mutation: in dbSNP rsrs28934610, MIM: 276900</li><li>G->R at 214: in USH1B, MIM: 276900</li><li>Missing  at 218-219: in USH1B, MIM: 276900</li><li>R->C at 241: in USH1B, MIM: 276900</li><li>R->S at 241: in USH1B, MIM: 276900</li><li>R->P at 244: in DFNB2, MIM: 600060</li><li>Missing  at 269: in USH1B, MIM: 600060</li><li>R->H at 302: in USH1B; frequent mutation; may be a polymorphism: in dbSNP rsrs41298135, MIM: 276900</li><li>A->D at 397: in USH1B, MIM: 276900</li><li>E->Q at 450: in USH1B, MIM: 276900</li><li>A->V at 457: in USH1B, MIM: 276900</li><li>N->I at 458: in DFNA11: in dbSNP rsrs28934903, MIM: 601317</li><li>H->HQ at 468: in USH1B, MIM: 601317</li><li>P->L at 503: in USH1B, MIM: 276900</li><li>G->D at 519: in USH1B; the deleterious effect remains to be proven, MIM: 276900</li><li>V->I at 597: rare polymorphism, MIM: 276900</li><li>M->I at 599: in DFNB2, MIM: 600060</li><li>L->P at 651: in USH1B; atypical, MIM: 276900</li><li>G->R at 722: in DFNA11, MIM: 601317</li><li>R->W at 756: in USH1B, MIM: 276900</li><li>A->T at 826: in USH1B, MIM: 276900</li><li>R->C at 853: in DFNA11; disturb calmodulin/MYO7A binding; may result in impaired adaptation to environmental stimuli and progressive deterioration of hearing transduction in heterozygotes, MIM: 601317</li><li>Missing  at 886-888: in DFNA11, MIM: 601317</li><li>G->S at 955: in USH1B, MIM: 276900</li><li>E->D at 968: in USH1B, MIM: 276900</li><li>L->P at 1087: in USH1B, MIM: 276900</li><li>E->K at 1170: in USH1B, MIM: 276900</li><li>R->Q at 1240: in USH1B, MIM: 276900</li><li>A->P at 1288: in USH1B, MIM: 276900</li><li>E->K at 1327: in USH1B, MIM: 276900</li><li>R->S at 1343: in USH1B, MIM: 276900</li><li>Missing  at 1346: in USH1B, MIM: 276900</li><li>Missing  at 1347-1351: in USH1B, MIM: 276900</li><li>T->M at 1566: in USH1B; could be a polymorphism, MIM: 276900</li><li>R->Q at 1602: in USH1B; atypical, MIM: 276900</li><li>A->S at 1628: in USH1B, MIM: 276900</li><li>C->G at 1666, MIM: 276900</li><li>C->S at 1666: in dbSNP:rs2276288, MIM: 276900</li><li>Y->C at 1719: in USH1B; could be a polymorphism, MIM: 276900</li><li>G->S at 1740: in dbSNP:rs12275336, MIM: 276900</li><li>R->W at 1743: in USH1B, MIM: 276900</li><li>L->P at 1858: in USH1B, MIM: 276900</li><li>R->W at 1873: in USH1B, MIM: 276900</li><li>R->Q at 1883: in USH1B, MIM: 276900</li><li>P->L at 1887: in USH1B, MIM: 276900</li><li>I->L at 1954: in dbSNP:rs948962, MIM: 276900</li><li>Missing  at 1962: in USH1B, MIM: 276900</li><li>F->I at 1992, MIM: 276900</li><li>G->E at 2137: in USH1B, MIM: 276900</li><li>D->N at 2142: in dbSNP:rs1132036, MIM: 276900</li><li>G->S at 2163: in USH1B, MIM: 276900</li><li>G->D at 2187: in USH1B, MIM: 276900</li>	<li>hearing</li><li>transduction</li>	<li>GO:0007605</li><li>GO:0009293</li>	binding	GO:0005488			<li>Q40302</li><li>Q8STF0</li><li>P04353</li><li>P41040</li><li>Q28970</li><li>P04352</li><li>Q9GRJ1</li><li>P61860</li><li>P02594</li><li>P02595</li><li>P61861</li><li>P48976</li><li>O82018</li><li>P93171</li><li>P62184</li><li>P62144</li><li>P62145</li><li>Q5RAD2</li><li>P07463</li><li>P24044</li><li>P11121</li><li>P62149</li><li>P06787</li><li>O02367</li><li>Q6IT78</li><li>P05935</li><li>P05933</li><li>O16305</li><li>Q6PI52</li><li>P05934</li><li>Q6YNX6</li><li>Q7Y052</li><li>Q95NR9</li><li>P62157</li><li>P11118</li><li>P62156</li><li>P21251</li><li>P62155</li><li>Q5EHV7</li><li>P62154</li><li>P62152</li><li>P62151</li><li>Q7T3T2</li><li>P69097</li><li>P69098</li><li>P60206</li><li>Q9U6D3</li><li>Q9HFY6</li><li>P60205</li><li>P62158</li><li>P60204</li><li>O96102</li><li>P62201</li><li>P18061</li><li>P11120</li><li>Q8X187</li><li>P93087</li><li>O60041</li><li>Q05055</li><li>P62204</li><li>P62160</li><li>P62203</li><li>Q13402</li><li>P62202</li><li>P61859</li><li>P17928</li><li>P15094</li><li>Q95NI4</li><li>Q9UWF0</li><li>P62162</li><li>P02598</li><li>P62161</li><li>P02599</li><li>Q71UH6</li><li>Q71UH5</li><li>O97341</li><li>P04464</li><li>P27165</li><li>Q39752</li><li>P84339</li><li>P27166</li><li>P23286</li><li>O94739</li><li>P27161</li><li>P41041</li><li>Q6R520</li>	<li>Non-syndromic sensorineural deafness autosomal dominant type 11 (DFNA11) [MIM:601317]</li><li>Usher syndrome type 1B (USH1B) [MIM:276900]</li><li>Non-syndromic sensorineural deafness autosomal recessive type 2 (DFNB2) [MIM:600060]</li>	<li>rs12275336</li><li>rs28934903</li><li>rs28934610</li><li>rs2276288</li><li>rs41298135</li><li>rs1052030</li><li>rs1132036</li><li>rs948962</li>	2
Q13405	740		<li>T->A at 9: in dbSNP:rs17146691</li>									rs17146691	2
Q13410	696		<li>T->A at 213: in dbSNP:rs3736781</li><li>V->A at 303: in dbSNP:rs1980600</li><li>D->E at 503: in dbSNP:rs9393728</li>									<li>rs3736781</li><li>rs1980600</li><li>rs9393728</li>	2
Q13415	4998		<li>R->S at 19: in dbSNP:rs3087473</li><li>Q->H at 180: in dbSNP:rs3087482</li><li>V->M at 190: in dbSNP:rs3087477</li><li>A->V at 372: in dbSNP:rs3087476</li><li>R->M at 441: in dbSNP:rs3087472</li><li>K->E at 456: in dbSNP:rs3087470</li><li>T->M at 466: in dbSNP:rs3087481</li><li>C->Y at 469: in dbSNP:rs3087483</li><li>M->T at 816: in dbSNP:rs34521609</li>									<li>rs34521609</li><li>rs3087476</li><li>rs3087477</li><li>rs3087483</li><li>rs3087470</li><li>rs3087481</li><li>rs3087472</li><li>rs3087482</li><li>rs3087473</li>	2
Q13416	4999		<li>M->K at 106: in dbSNP:rs2307361</li><li>R->Q at 521: in dbSNP:rs16835624</li>									<li>rs16835624</li><li>rs2307361</li>	2
Q13421	10232		<li>A->V at 72: in dbSNP:rs9927389</li><li>R->P at 309: in dbSNP:rs17850474</li><li>G->E at 497: in dbSNP:rs35935235</li><li>M->V at 601: in dbSNP:rs1135210</li>									<li>rs1135210</li><li>rs9927389</li><li>rs35935235</li><li>rs17850474</li>	2
Q13424	6640		<li>L->F at 364: in dbSNP:rs1046815</li>									rs1046815	2
Q13425	6645		<li>D->E at 424: in dbSNP:rs1058482</li>									rs1058482	2
Q13428	6949		<li>W->R at 53: in TCS, MIM: 154500</li><li>P->L at 516, MIM: 154500</li><li>P->A at 665: in dbSNP:rs2071240, MIM: 154500</li><li>A->V at 887: in dbSNP:rs7713638, MIM: 154500</li><li>R->K at 1030: in a colorectal cancer sample; somatic mutation, MIM: 154500</li><li>A->V at 1390: in dbSNP:rs15251, MIM: 154500</li><li>D->G at 1432, MIM: 154500</li>								Treacher Collins syndrome (TCS) [MIM:154500]	<li>rs2071240</li><li>rs15251</li><li>rs7713638</li>	2
Q13438	10956		<li>R->W at 398: in dbSNP:rs1804598</li><li>S->L at 454: in dbSNP:rs34764811</li>									<li>rs1804598</li><li>rs34764811</li>	2
Q13445	11018		<li>D->N at 102: in a breast cancer sample; somatic mutation</li>										2
Q13454	7991		<li>I->V at 65: in dbSNP:rs11545035</li>									rs11545035	2
Q13461	2301		<li>G->A at 196</li><li>S->G at 300</li>										2
Q13465	4197		<li>P->S at 120: in dbSNP:rs7622799</li>									rs7622799	2
Q13467	7855		<li>P->L at 216: in dbSNP:rs35994626</li>									rs35994626	2
Q13469	4773		<li>H->R at 446: in dbSNP:rs12479626</li>									rs12479626	2
Q13470	8711		<li>V->I at 278: in dbSNP rsrs55939858</li><li>R->K at 339: in a lung adenocarcinoma sample; somatic mutation</li><li>T->K at 514</li><li>R->C at 539</li><li>S->C at 546</li><li>V->M at 598</li>									rs55939858	2
Q13472	7156		<li>D->N at 459: in dbSNP:rs28671051</li><li>C->Y at 596</li><li>D->N at 742: in dbSNP:rs9909732</li><li>N->D at 773: in dbSNP:rs9911283</li>									<li>rs28671051</li><li>rs9909732</li><li>rs9911283</li>	2
Q13474	1821		<li>V->L at 68: in dbSNP:rs7066252</li>									rs7066252	2
Q13477	8174		<li>S->SPESPDTTSQEP at 253</li><li>P->H at 300: in dbSNP:rs3745925</li>									rs3745925	2
Q13478	8809		<li>R->H at 210: in dbSNP:rs11465635</li><li>N->K at 232: in dbSNP:rs11465644</li><li>S->N at 310: in dbSNP:rs11465648</li><li>Missing at 317</li><li>G->R at 423: in dbSNP:rs12619169</li>									<li>rs11465644</li><li>rs12619169</li><li>rs11465635</li><li>rs11465648</li>	2
Q13480	2549		<li>Y->C at 83: in a breast cancer sample; somatic mutation</li><li>P->L at 311: in dbSNP:rs28925904</li><li>T->I at 377: in dbSNP:rs2229879</li><li>T->N at 387: in a breast cancer sample; somatic mutation</li>									<li>rs2229879</li><li>rs28925904</li>	2
Q13485	4089	<ul><li>K->R at 519: Abolishes ubiquitination</li></ul>	<li>W->G at 101: in dbSNP:rs2229083</li><li>P->S at 130: in a colorectal cancer sample; somatic mutation</li><li>E->G at 330: in JPS, MIM: 174900</li><li>D->N at 351: in a colorectal cancer sample; somatic mutation, MIM: 174900</li><li>G->R at 352: in JP/HHT and JPS, MIM: 175050</li><li>R->C at 361: in JPS, MIM: 174900</li><li>R->H at 361: in a colorectal cancer sample; somatic mutation, MIM: 174900</li><li>G->D at 386: in JP/HHT: in dbSNP rsrs28936393, MIM: 175050</li><li>D->H at 493: in pancreatic carcinoma: in dbSNP rsrs28936392, MIM: 260350</li>								<li>Pancreatic carcinoma [MIM:260350]</li><li>Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT) [MIM:175050]</li><li>Juvenile polyposis syndrome (JPS) [MIM:174900]</li>	<li>rs2229083</li><li>rs28936393</li><li>rs28936392</li>	3
Q13487	6618		<li>L->V at 118: in dbSNP:rs475002</li>									rs475002	2
Q13488	10312		<li>R->W at 56: in dbSNP:rs36027301</li><li>A->P at 141: in OPTB1, MIM: 259700</li><li>P->L at 161: in dbSNP:rs34227834, MIM: 259700</li><li>G->R at 405: in OPTB1, MIM: 259700</li><li>R->L at 444: in OPTB1, MIM: 259700</li><li>Missing  at 462: in OPTB1, MIM: 259700</li><li>D->N at 517: in OPTB1, MIM: 259700</li><li>P->R at 775: in OPTB1, MIM: 259700</li>								Osteopetrosis autosomal recessive type 1 (OPTB1) [MIM:259700]	<li>rs36027301</li><li>rs34227834</li>	2
Q13489	330		<li>K->R at 260: in dbSNP:rs2276113</li><li>V->M at 386: in dbSNP:rs12222256</li><li>R->K at 401: in dbSNP:rs17881197</li>									<li>rs17881197</li><li>rs2276113</li><li>rs12222256</li>	2
Q13490	329		<li>M->I at 453: in dbSNP:rs34749508</li><li>M->V at 453</li><li>A->V at 506: in dbSNP rsrs34510872</li><li>P->S at 549: in dbSNP rsrs35494784</li>									<li>rs34510872</li><li>rs34749508</li><li>rs35494784</li>	2
Q13492	8301		<li>T->P at 158: in dbSNP:rs12800974</li><li>S->F at 383: in dbSNP:rs12222608</li><li>W->C at 578: in dbSNP:rs1043858</li><li>Q->E at 579: in dbSNP:rs1043859</li><li>F->L at 641: in dbSNP:rs556337</li>									<li>rs1043858</li><li>rs1043859</li><li>rs12800974</li><li>rs556337</li><li>rs12222608</li>	2
Q13495	10046		<li>P->S at 359: in dbSNP:rs41313406</li><li>Q->R at 580</li><li>N->S at 662: in dbSNP:rs2073043</li>									<li>rs41313406</li><li>rs2073043</li>	2
Q13496	4534		<li>Missing  at 47: in XCNM</li><li>V->F at 49: in XCNM, MIM: 310400</li><li>Y->D at 68: in XCNM, MIM: 310400</li><li>R->C at 69: in XCNM; mild, MIM: 310400</li><li>R->P at 69: in XCNM, MIM: 310400</li><li>R->S at 69: in XCNM; severe, MIM: 310400</li><li>L->F at 70: in XCNM; mild, MIM: 310400</li><li>L->P at 87: in XCNM; mild, MIM: 310400</li><li>E->K at 157: in XCNM, MIM: 310400</li><li>P->S at 179: in XCNM; mild, MIM: 310400</li><li>N->K at 180: in XCNM; very mild, MIM: 310400</li><li>R->G at 184: in XCNM; severe, MIM: 310400</li><li>R->L at 184: in XCNM, MIM: 310400</li><li>T->I at 186: in XCNM, MIM: 310400</li><li>N->S at 189: in XCNM, MIM: 310400</li><li>T->I at 197: in XCNM, MIM: 310400</li><li>Y->N at 198: in XCNM; severe, MIM: 310400</li><li>P->S at 199: in XCNM, MIM: 310400</li><li>L->S at 202: in XCNM; severe, MIM: 310400</li><li>P->L at 205: in XCNM; severe, MIM: 310400</li><li>I->T at 225: in XCNM; mild, MIM: 310400</li><li>P->T at 226: in XCNM, MIM: 310400</li><li>V->M at 227: in XCNM, MIM: 310400</li><li>L->P at 228: in XCNM, MIM: 310400</li><li>S->P at 229: in XCNM; mild, MIM: 310400</li><li>W->C at 230: in XCNM, MIM: 310400</li><li>H->R at 232: in XCNM, MIM: 310400</li><li>R->C at 241: in XCNM; mild to moderate, MIM: 310400</li><li>R->L at 241: in XCNM; severe, MIM: 310400</li><li>I->S at 264: in XCNM; severe, MIM: 310400</li><li>A->G at 279: in XCNM, MIM: 310400</li><li>Missing  at 294: in XCNM; mild, MIM: 310400</li><li>M->R at 317: in XCNM; mild, MIM: 310400</li><li>W->C at 346: in XCNM; mild, MIM: 310400</li><li>W->S at 346: in XCNM, MIM: 310400</li><li>V->G at 364: in XCNM, MIM: 310400</li><li>H->D at 374: in XCNM, MIM: 310400</li><li>S->N at 376: in XCNM, MIM: 310400</li><li>G->E at 378: in XCNM, MIM: 310400</li><li>G->R at 378: in XCNM; severe, MIM: 310400</li><li>A->D at 389: in XCNM; severe, MIM: 310400</li><li>L->P at 391: in XCNM, MIM: 310400</li><li>Y->C at 397: in XCNM; severe, MIM: 310400</li><li>G->A at 402: in XCNM; mild, MIM: 310400</li><li>G->R at 402: in XCNM, MIM: 310400</li><li>G->V at 402: in XCNM, MIM: 310400</li><li>E->K at 404: in XCNM; mild, MIM: 310400</li><li>L->P at 406: in XCNM; severe, MIM: 310400</li><li>W->C at 411: in XCNM, MIM: 310400</li><li>S->SFIQ at 420: in XCNM; severe, MIM: 310400</li><li>R->Q at 421: in XCNM; severe, MIM: 310400</li><li>R->RFIQ at 421: in XCNM; severe, MIM: 310400</li><li>D->N at 431: in XCNM, MIM: 310400</li><li>D->N at 433: in XCNM, MIM: 310400</li><li>C->Y at 444: in XCNM, MIM: 310400</li><li>H->P at 469: in XCNM, MIM: 310400</li><li>L->P at 470: in XCNM; severe, MIM: 310400</li><li>N->Y at 481: in XCNM; mild, MIM: 310400</li><li>W->R at 499: in XCNM; mild, MIM: 310400</li><li>K->N at 510: in XCNM; severe, MIM: 310400</li>								X-linked centronuclear myopathy X-linked (XCNM) [MIM:310400]		2
Q13505	4580		<li>T->S at 63: in dbSNP:rs760077</li>									rs760077	2
Q13510			<li>Q->H at 22: in FD, MIM: 228000</li><li>H->D at 23: in FD, MIM: 228000</li><li>Y->C at 36: in FD, MIM: 228000</li><li>M->V at 72: in dbSNP:rs1071645, MIM: 228000</li><li>V->I at 93: in dbSNP:rs1049874, MIM: 228000</li><li>Missing  at 96: in FD, MIM: 228000</li><li>V->E at 97: in FD, MIM: 228000</li><li>D->E at 124: in dbSNP:rs2472205, MIM: 228000</li><li>E->V at 138: in FD, MIM: 228000</li><li>L->V at 182: in FD, MIM: 228000</li><li>T->K at 222: in FD, MIM: 228000</li><li>G->R at 235: in FD, MIM: 228000</li><li>A->V at 246: in dbSNP:rs10103355, MIM: 228000</li><li>R->G at 254: in FD, MIM: 228000</li><li>N->D at 320: in FD, MIM: 228000</li><li>P->R at 362: in FD, MIM: 228000</li><li>V->I at 369: in dbSNP:rs17636067, MIM: 228000</li>								Farber disease (FD) [MIM:228000]	<li>rs17636067</li><li>rs1071645</li><li>rs1049874</li><li>rs2472205</li><li>rs10103355</li>	2
Q13515	8419		<li>Missing  at 233: in autosomal dominant multiple types cataract type 1; congenital</li><li>R->W at 287: in autosomal dominant multiple types cataract type 1; juvenile-onset, MIM: 611597</li>								Autosomal dominant multiple types cataract type 1 [MIM:611597]		2
Q13520	363		<li>V->I at 234: in dbSNP:rs17124220</li>									rs17124220	2
Q13523	8899		<li>V->I at 83: in dbSNP:rs9503893</li><li>I->V at 584: in dbSNP rsrs56267049</li><li>F->L at 658: in a breast cancer sample; somatic mutation</li>									<li>rs9503893</li><li>rs56267049</li>	2
Q13530	10955		<li>T->A at 437</li>										2
Q13554	816		<li>P->L at 488: in a colorectal adenocarcinoma sample; somatic mutation</li><li>E->K at 509: in dbSNP rsrs35452727</li>									rs35452727	2
Q13555	818		<li>S->P at 36: in dbSNP:rs17853266</li>									rs17853266	2
Q13557	817		<li>D->E at 167: in dbSNP rsrs35367671</li><li>Q->E at 463: in dbSNP:rs1053668</li><li>T->I at 493: in dbSNP:rs35765784</li>									<li>rs1053668</li><li>rs35765784</li><li>rs35367671</li>	2
Q13562	4760		<li>A->T at 45: in dbSNP:rs1801262</li><li>R->L at 111: in MODY6, MIM: 606394</li><li>P->H at 197: in dbSNP:rs8192556, MIM: 606394</li>								Maturity onset diabetes of the young type 6 (MODY6) [MIM:606394]	<li>rs1801262</li><li>rs8192556</li>	2
Q13563	5311		<li>R->P at 28: common polymorphism: in dbSNP rsrs1805044</li><li>A->P at 356: in ADPKD2, MIM: 173900</li><li>W->G at 414: in ADPKD2, MIM: 173900</li><li>I->V at 452: in dbSNP:rs1801612, MIM: 173900</li><li>Missing  at 479: in ADPKD2; somatic mutation, MIM: 173900</li><li>Missing  at 504-512: in ADPKD2; somatic mutation, MIM: 173900</li><li>Missing  at 684: in ADPKD2; somatic mutation, MIM: 173900</li>								Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:173900]	<li>rs1805044</li><li>rs1801612</li>	2
Q13571	7805		<li>R->K at 226: in dbSNP:rs35351292</li>									rs35351292	2
Q13591	9037		<li>V->L at 246: in dbSNP:rs1806079</li><li>S->L at 792: in dbSNP:rs2290734</li>									<li>rs2290734</li><li>rs1806079</li>	2
Q13596	6642		<li>S->Y at 115: in dbSNP:rs1049501</li><li>D->N at 466: in dbSNP:rs1802376</li>									<li>rs1049501</li><li>rs1802376</li>	2
Q13601	11103		<li>R->Q at 134: in dbSNP:rs11540407</li>									rs11540407	2
Q13606	10798		<li>R->G at 6: in dbSNP:rs17597625</li><li>L->S at 50: in dbSNP:rs4367963</li><li>F->S at 76: in dbSNP:rs9666086</li><li>V->I at 306: in dbSNP:rs9665861</li>									<li>rs17597625</li><li>rs9666086</li><li>rs4367963</li><li>rs9665861</li>	2
Q13607	26211		<li>R->C at 122: in dbSNP:rs2072164</li><li>H->R at 137: in dbSNP:rs2072165</li>									<li>rs2072165</li><li>rs2072164</li>	2
Q13608	5190		<li>A->V at 809: in dbSNP:rs35830695</li><li>R->Q at 812: in ZWS, MIM: 214100</li><li>R->W at 812: in ZWS; atypical, MIM: 214100</li><li>V->I at 882: in dbSNP:rs2274516, MIM: 214100</li><li>P->Q at 939: in dbSNP:rs1129187, MIM: 214100</li>								Zellweger syndrome (ZWS) [MIM:214100]	<li>rs2274516</li><li>rs1129187</li><li>rs35830695</li>	2
Q13609	1776		<li>L->V at 19: in a breast cancer sample; somatic mutation</li><li>G->R at 82: in a breast cancer sample; somatic mutation</li><li>Y->S at 117: in a colorectal cancer sample; somatic mutation</li>										2
Q13610	11137		<li>L->F at 288: in dbSNP:rs11547907</li>									rs11547907	2
Q13618	8452		<li>D->H at 13: in dbSNP:rs2969802</li><li>R->S at 184: in dbSNP:rs17480168</li><li>V->I at 567: in dbSNP:rs3738952</li>									<li>rs3738952</li><li>rs2969802</li><li>rs17480168</li>	2
Q13620	8450		<li>L->P at 85</li><li>T->I at 195: in MRXC; could be a rare polymorphism, MIM: 300354</li><li>R->C at 554: in MRXC, MIM: 300354</li><li>V->A at 727: in MRXC, MIM: 300354</li>								Cabezas X-linked mental retardation syndrome (MRXC) [MIM:300354]		2
Q13621	6557		<li>V->F at 272: in BS1, MIM: 601678</li><li>D->N at 648: in BS1, MIM: 601678</li><li>V->A at 958: in dbSNP:rs1552311, MIM: 601678</li>							P21464	Bartter syndrome type 1 (BS1) [MIM:601678]	rs1552311	2
Q13627	1859		<li>Y->F at 415</li><li>A->P at 679: in dbSNP rsrs55720916</li><li>Q->H at 681</li>									rs55720916	2
Q13635	5727		<li>L->P at 175: in BCNS; sporadic BCC, MIM: 109400</li><li>T->P at 230: in BCNS, MIM: 109400</li><li>F->S at 376: in BCNS, MIM: 109400</li><li>A->T at 393: in HPE7, MIM: 610828</li><li>A->G at 443: in HPE7, MIM: 610828</li><li>FL->LR at 505-506: in BCNS, MIM: 610828</li><li>G->R at 509: in BCNS; could be a rare polymorphism, MIM: 109400</li><li>G->V at 509: in BCNS, MIM: 109400</li><li>D->Y at 513: in BCNS, MIM: 109400</li><li>T->M at 728: in HPE7: in dbSNP rsrs28936404, MIM: 610828</li><li>V->G at 751: in HPE7, MIM: 610828</li><li>I->IPNI at 815: in BCNS, MIM: 610828</li><li>Missing  at 816: in BCNS, MIM: 610828</li><li>S->G at 827: in HPE7, MIM: 610828</li><li>V->M at 829: in squamous cell carcinoma, MIM: 610828</li><li>V->G at 908: in HPE7, MIM: 610828</li><li>T->M at 1052: in HPE7: in dbSNP rsrs28936405, MIM: 610828</li><li>G->R at 1069: in BCNS, MIM: 109400</li><li>V->VV at 1083: in BCNS, MIM: 109400</li><li>R->W at 1114: in BCNS and BCC, MIM: 605462</li><li>S->P at 1132: in BCNS, MIM: 109400</li><li>S->Y at 1132: in BCNS, MIM: 109400</li><li>T->S at 1195: in dbSNP:rs2236405, MIM: 109400</li><li>E->K at 1242: in squamous cell carcinoma, MIM: 109400</li><li>P->L at 1282: in dbSNP:rs2227968, MIM: 109400</li><li>P->L at 1315: in dbSNP:rs357564, MIM: 109400</li><li>E->D at 1438: in BCNS; sporadic NBCCS, MIM: 109400</li>								<li>Holoprosencephaly type 7 (HPE7) [MIM:610828]</li><li>Sporadic basal cell carcinoma (BCC) [MIM:605462]</li><li>Basal cell nevus syndrome (BCNS) [MIM:109400]</li>	<li>rs357564</li><li>rs28936404</li><li>rs2236405</li><li>rs28936405</li><li>rs2227968</li>	2
Q13639	3360		<li>C->Y at 372: in dbSNP:rs34826744</li>									rs34826744	2
Q13642	2273		<li>W->S at 122: in X-linked dominant scapuloperoneal myopathy, MIM: 300695</li><li>H->Y at 123: in RBM; X-linked severe early-onset; the mutant protein initiates aggregation of the FHL1 protein, forms reducing bodies and traps wild-type FHL1 into the inclusion bodies; consistent with a dominant-negative effect, MIM: 300717</li><li>T->TI at 128: in XMPMA, MIM: 300717</li><li>C->F at 132: in RBM; X-linked severe early-onset; the mutant protein initiates aggregation of the FHL1 protein, forms reducing bodies and traps wild-type FHL1 into the inclusion bodies; consistent with a dominant-negative effect, MIM: 300717</li><li>C->R at 153: in RBM; X-linked childhood-onset, MIM: 300717</li><li>C->Y at 153: in RBM; X-linked childhood-onset, MIM: 300717</li><li>C->W at 224: in XMPMA, MIM: 300696</li>					inclusion bodies	GO:0016234	<li>P39521</li><li>Q13642</li>	<li>X-linked myopathy with postural muscle atrophy (XMPMA) [MIM:300696]</li><li>X-linked dominant scapuloperoneal myopathy [MIM:300695]</li><li>X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717]</li><li>X-linked childhood-onset reducing body myopathy (RBM) [MIM:300718]</li>		2
Q13651	3587		<li>L->V at 61: in dbSNP:rs4252250</li><li>V->I at 113: in dbSNP:rs4252303</li><li>S->G at 159: in dbSNP:rs3135932</li><li>R->Q at 212: in dbSNP:rs4252273</li><li>I->V at 224: in dbSNP:rs2228055</li><li>G->R at 351: in dbSNP:rs2229113</li><li>P->S at 353: in dbSNP:rs35235073</li><li>S->L at 420: in dbSNP:rs2229114</li>									<li>rs3135932</li><li>rs2229114</li><li>rs2228055</li><li>rs4252273</li><li>rs4252303</li><li>rs2229113</li><li>rs35235073</li><li>rs4252250</li>	2
Q13683	3679		<li>H->R at 695: in dbSNP:rs1800974</li>									rs1800974	2
Q13685	14		<li>I->V at 250: in dbSNP:rs2305835</li>									rs2305835	2
Q13686	8846		<li>M->I at 135: in dbSNP:rs17825440</li><li>M->L at 324: in dbSNP:rs6494</li>									<li>rs6494</li><li>rs17825440</li>	2
Q13698	779		<li>A->G at 69: in dbSNP:rs12406479</li><li>L->H at 458: in dbSNP:rs12742169</li><li>R->G at 528: in HOKPP, MIM: 170400</li><li>R->H at 528: in HOKPP, MIM: 170400</li><li>R->S at 900: in HOKPP, MIM: 170400</li><li>R->H at 1086: in MSH5: in dbSNP rsrs1800559, MIM: 170400</li><li>R->G at 1239: in HOKPP: in dbSNP rsrs28930069, MIM: 170400</li><li>R->H at 1239: in HOKPP: in dbSNP rsrs28930068, MIM: 170400</li><li>R->C at 1539: in dbSNP:rs3850625, MIM: 170400</li><li>R->H at 1658: in dbSNP:rs13374149, MIM: 170400</li><li>L->S at 1800: in dbSNP:rs12139527, MIM: 170400</li><li>E->D at 1840: in dbSNP:rs1042379, MIM: 170400</li>							<li>Q12175</li><li>O43196</li>	Periodic paralysis hypokalemic (HOKPP) [MIM:170400]	<li>rs28930069</li><li>rs12139527</li><li>rs12406479</li><li>rs28930068</li><li>rs1042379</li><li>rs1800559</li><li>rs13374149</li><li>rs3850625</li><li>rs12742169</li>	2
Q13702	5913		<li>Q->K at 8: in dbSNP:rs11556408</li><li>L->P at 14: in CMS1D, MIM: 608931</li><li>V->M at 45: in CMS1D; reduced coclustering with acetylcholine receptor, MIM: 608931</li><li>N->K at 88: in CMS1D, MIM: 608931</li><li>F->S at 139: in FADS, MIM: 208150</li><li>E->K at 162: in CMS1D; reduced coclustering with acetylcholine receptor, MIM: 608931</li><li>R->C at 164: in CMS1D; reduced coclustering with acetylcholine receptor, MIM: 608931</li><li>A->V at 189: in FADS, MIM: 208150</li><li>L->P at 283: in CMS1D; reduced coclustering with acetylcholine receptor, MIM: 608931</li>								<li>Congenital myasthenic syndrome type 1d (CMS1D) [MIM:608931]</li><li>Fetal akinesia deformation sequence (FADS) [MIM:208150]</li>	rs11556408	2
Q13705	93		<li>R->H at 40: in left-right axis malformations, MIM: 602730</li><li>P->R at 176: in dbSNP rsrs35882617, MIM: 602730</li><li>E->D at 459: in dbSNP:rs500611, MIM: 602730</li><li>V->I at 494: in left-right axis malformations, MIM: 602730</li>								Left-right axis malformations [MIM:602730]	<li>rs35882617</li><li>rs500611</li>	2
Q13724	7841		<li>G->R at 222: in dbSNP:rs3213671</li><li>E->Q at 236: in dbSNP rsrs1063587</li><li>D->N at 239: in dbSNP:rs1063588</li><li>P->S at 293: in dbSNP:rs2268416</li><li>R->T at 486: in CDGIIb; loss of activity, MIM: 606056</li><li>R->P at 495: in dbSNP:rs34075781, MIM: 606056</li><li>F->L at 652: in CDGIIb; loss of activity, MIM: 606056</li><li>G->S at 785: in dbSNP:rs35533773, MIM: 606056</li>								Type IIb congenital disorder of glycosylation (CDGIIb) [MIM:606056]	<li>rs1063587</li><li>rs3213671</li><li>rs34075781</li><li>rs35533773</li><li>rs2268416</li><li>rs1063588</li>	2
Q13733	480		<li>G->D at 83: in dbSNP:rs6427504</li><li>E->K at 297: in dbSNP:rs17368402</li><li>M->R at 541: in dbSNP:rs16831482</li><li>M->I at 586: in dbSNP:rs7528360</li>									<li>rs16831482</li><li>rs17368402</li><li>rs6427504</li><li>rs7528360</li>	2
Q13740	214		<li>G->D at 229: in dbSNP:rs10933819</li><li>N->S at 258: in dbSNP:rs1044240</li><li>T->M at 301: in dbSNP:rs1044243</li><li>L->M at 315: in dbSNP:rs12629872</li><li>V->M at 352: in dbSNP:rs2291375</li><li>M->I at 367: in dbSNP:rs34926152</li>									<li>rs34926152</li><li>rs1044240</li><li>rs10933819</li><li>rs2291375</li><li>rs1044243</li><li>rs12629872</li>	2
Q13748	113457		<li>V->L at 75: in dbSNP:rs36215077</li><li>D->V at 392: in dbSNP:rs17076703</li><li>V->M at 440: in dbSNP:rs1803092</li>									<li>rs36215077</li><li>rs1803092</li><li>rs17076703</li>	2
Q13751	3914		<li>N->D at 181: in dbSNP:rs2235542</li><li>G->A at 199: in GABEB; somatic second-site mutation, MIM: 226650</li><li>K->Q at 207: in GABEB; somatic second-site mutation, MIM: 226650</li><li>E->K at 210: in GABEB, MIM: 226650</li><li>R->L at 292: in dbSNP:rs12091253, MIM: 226650</li><li>S->T at 438: in dbSNP:rs2229468, MIM: 226650</li><li>R->C at 450: in a colorectal cancer sample; somatic mutation, MIM: 226650</li><li>V->M at 527: in dbSNP:rs2076349, MIM: 226650</li><li>P->L at 679: in H-JEB, MIM: 226700</li><li>N->S at 690: in dbSNP:rs2229466, MIM: 226700</li><li>M->L at 852: in dbSNP:rs12748250, MIM: 226700</li><li>A->D at 926: in dbSNP:rs2076222, MIM: 226700</li><li>R->W at 988: in dbSNP:rs2229467, MIM: 226700</li>								<li>Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]</li><li>Epidermolysis bullosa junctional Herlitz type (H-JEB) [MIM:226700]</li>	<li>rs2076349</li><li>rs2076222</li><li>rs12748250</li><li>rs2229466</li><li>rs2235542</li><li>rs2229467</li><li>rs2229468</li><li>rs12091253</li>	2
Q13753	3918		<li>A->P at 111: in dbSNP:rs12065473</li><li>R->Q at 115: in dbSNP:rs17481405</li><li>T->M at 124: in dbSNP:rs11586699</li><li>D->V at 136: in dbSNP:rs12037099</li><li>D->E at 247: in dbSNP:rs2296306</li><li>S->I at 608: in dbSNP:rs4373715</li><li>S->T at 733: in dbSNP:rs2296303</li>									<li>rs12037099</li><li>rs4373715</li><li>rs11586699</li><li>rs12065473</li><li>rs2296306</li><li>rs2296303</li><li>rs17481405</li>	2
Q13769	8563		<li>T->K at 380: in a breast cancer sample; somatic mutation</li><li>T->S at 475: in dbSNP:rs8141153</li><li>G->S at 499: in a breast cancer sample; somatic mutation</li><li>I->V at 525: in dbSNP:rs737976</li><li>I->V at 579: in dbSNP:rs1049534</li>									<li>rs1049534</li><li>rs737976</li><li>rs8141153</li>	2
Q13795	10139		<li>L->V at 108: in a breast cancer sample; somatic mutation</li>										2
Q13796	357		<li>D->E at 942: in dbSNP:rs16985780</li><li>D->H at 1245: in a breast cancer sample; somatic mutation</li><li>I->V at 1475: in dbSNP:rs12012202</li><li>L->F at 1607: in dbSNP:rs2073942</li>									<li>rs12012202</li><li>rs2073942</li><li>rs16985780</li>	2
Q13797			<li>G->E at 507: in dbSNP:rs267561</li><li>R->C at 750: in a breast cancer sample; somatic mutation</li>									rs267561	2
Q13813	6709		<li>N->S at 385: in dbSNP:rs2227863</li><li>S->C at 904: in a breast cancer sample; somatic mutation</li><li>P->S at 1017: in a breast cancer sample; somatic mutation</li><li>I->T at 1300: in dbSNP:rs1048236</li><li>R->W at 1794: in a breast cancer sample; somatic mutation</li><li>D->N at 1918: in a breast cancer sample; somatic mutation</li>									<li>rs2227863</li><li>rs1048236</li>	2
Q13823	29889		<li>Q->H at 452: in dbSNP:rs12025870</li>									rs12025870	2
Q13835	5317		<li>R->H at 116: in dbSNP:rs34626929</li><li>C->Y at 161: in dbSNP:rs34704938</li><li>I->V at 196: in dbSNP:rs35507614</li><li>G->D at 415: in dbSNP:rs1626370</li>									<li>rs34626929</li><li>rs35507614</li><li>rs34704938</li><li>rs1626370</li>	2
Q13867	642		<li>I->V at 443: common polymorphism; dbSNP:rs1050565</li>									rs1050565	2
Q13873	659		<li>C->Y at 60: in PPH1, MIM: 178600</li><li>Q->H at 82: in PPH1, MIM: 178600</li><li>C->Y at 117: in PPH1, MIM: 178600</li><li>C->W at 118: in PPH1, MIM: 178600</li><li>C->R at 123: in PPH1, MIM: 178600</li><li>C->S at 123: in PPH1, MIM: 178600</li><li>G->D at 182: in PPH1, MIM: 178600</li><li>E->D at 224, MIM: 178600</li><li>C->Y at 347: in PPH1, MIM: 178600</li><li>C->R at 420: in PPH1, MIM: 178600</li><li>C->R at 483: in PPH1; sporadic, MIM: 178600</li><li>D->G at 485: in PPH1; complete loss of function, MIM: 178600</li><li>R->Q at 491: in PPH1; sporadic, MIM: 178600</li><li>R->W at 491: in PPH1, MIM: 178600</li><li>K->T at 512: in PPH1, MIM: 178600</li><li>N->K at 519: in PPH1, MIM: 178600</li><li>S->N at 775: in dbSNP:rs2228545, MIM: 178600</li><li>R->P at 899: in PPH1; leads to constitutive activation of the MAPK14 pathway, MIM: 178600</li>							<li>Q95NE7</li><li>O02812</li><li>P49599</li><li>Q16539</li><li>Q13873</li><li>P20604</li>	Primary pulmonary hypertension (PPH1) [MIM:178600]	rs2228545	2
Q13885	7280		<li>R->W at 62: in a colorectal cancer sample; somatic mutation</li>										2
Q13887	688		<li>P->S at 301: in a colorectal cancer sample; somatic mutation</li>										2
Q13895	705		<li>E->K at 103: in dbSNP:rs2296916</li><li>P->S at 426: in dbSNP:rs3828855</li>									<li>rs3828855</li><li>rs2296916</li>	2
Q13901	10438		<li>S->P at 127: in dbSNP:rs10444</li>									rs10444	2
Q13938	828		<li>R->G at 39: in dbSNP:rs7249419</li>									rs7249419	2
Q13939	881		<li>S->N at 75: in dbSNP:rs34789048</li>									rs34789048	2
Q13950	860		<li>Missing at 78-83</li><li>A->AAAAAAAAAAA at 84: in CCD associated with brachydactyly of hands and feet</li><li>L->R at 113: in CCD, MIM: 119600</li><li>S->R at 118: in CCD, MIM: 119600</li><li>F->C at 121: in CCD, MIM: 119600</li><li>C->R at 123: in CCD, MIM: 119600</li><li>Missing  at 133: in CCD, MIM: 119600</li><li>R->Q at 169: in CCD, MIM: 119600</li><li>M->R at 175: in CCD; abolishes DNA binding, MIM: 119600</li><li>R->Q at 190: in CCD; abolishes DNA binding, MIM: 119600</li><li>R->W at 190: in CCD, MIM: 119600</li><li>S->N at 191: in CCD; abolishes DNA binding, MIM: 119600</li><li>R->C at 193: in CCD, MIM: 119600</li><li>F->S at 197: in CCD; abolishes DNA binding, MIM: 119600</li><li>L->F at 199: in CCD; abolishes DNA binding, MIM: 119600</li><li>T->A at 200: in CCD; mild; associated also with isolated dental anomalies; normal DNA binding, MIM: 119600</li><li>T->R at 205: in CCD, MIM: 119600</li><li>Q->R at 209: in CCD, MIM: 119600</li><li>R->Q at 225: in CCD; interferes with nuclear localization; abolishes DNA binding, MIM: 119600</li><li>R->W at 225: in CCD; interferes with nuclear localization, MIM: 119600</li><li>G->S at 511: in CCD; could be a polymorphism, MIM: 119600</li>	localization	GO:0051179	DNA binding	GO:0003677				Cleidocranial dysplasia (CCD) [MIM:119600]		2
Q13951	865		<li>P->A at 100: in a breast cancer sample; somatic mutation</li>										2
Q13952	4802		<li>Q->H at 165: in a breast cancer sample; somatic mutation</li>										2
Q13976	5592		<li>N->S at 267: in dbSNP:rs34997494</li>									rs34997494	2
Q14002	1087		<li>F->I at 120: in dbSNP:rs8102488</li><li>A->V at 263: in dbSNP:rs7259532</li>									<li>rs8102488</li><li>rs7259532</li>	2
Q14003	3748		<li>R->H at 420: in SCA13; loss of channel activity, MIM: 605259</li><li>F->L at 448: in SCA13; slow channel closing, MIM: 605259</li>								Spinocerebellar ataxia type 13 (SCA13) [MIM:605259]		2
Q14004	8621		<li>S->F at 340: in dbSNP:rs13622</li><li>P->A at 356: in dbSNP rsrs17537669</li><li>L->F at 403: in dbSNP:rs3735137</li><li>R->Q at 410: in dbSNP rsrs17496261</li><li>T->A at 494: in dbSNP rsrs34624759</li><li>T->A at 500: in dbSNP:rs3735135</li><li>S->G at 624</li><li>T->R at 670: in dbSNP:rs34775357</li><li>R->L at 700: in dbSNP:rs1057000</li><li>V->M at 1062: in dbSNP rsrs17496712</li><li>V->M at 1170: in dbSNP rsrs3204309</li>									<li>rs1057000</li><li>rs3204309</li><li>rs13622</li><li>rs17496712</li><li>rs34775357</li><li>rs17537669</li><li>rs34624759</li><li>rs17496261</li><li>rs3735137</li><li>rs3735135</li>	2
Q14005	3603		<li>R->Q at 188: in dbSNP:rs17875512</li><li>S->L at 205: in dbSNP:rs17875513</li><li>S->T at 326: in dbSNP:rs34101586</li><li>N->K at 446: in dbSNP:rs11556218</li><li>H->R at 475: in dbSNP:rs34159341</li>									<li>rs17875512</li><li>rs34101586</li><li>rs17875513</li><li>rs34159341</li><li>rs11556218</li>	2
Q14008	9793		<li>Y->C at 785: in dbSNP:rs11038988</li>									rs11038988	2
Q14031	1288		<li>S->A at 455: in dbSNP:rs1042065</li><li>N->K at 1110: in dbSNP:rs1042067</li><li>P->S at 1126: in dbSNP:rs35179844</li><li>G->E at 1130: in a colorectal cancer sample; somatic mutation</li><li>I->V at 1162: in dbSNP:rs34466065</li><li>L->P at 1362: in dbSNP:rs35363062</li>									<li>rs34466065</li><li>rs35179844</li><li>rs35363062</li><li>rs1042065</li><li>rs1042067</li>	2
Q14050	1299		<li>P->S at 94: in dbSNP:rs35908728</li><li>R->Q at 103</li><li>R->W at 103</li><li>P->L at 296: in dbSNP rsrs45628843</li><li>R->Q at 402</li><li>A->E at 435: in dbSNP:rs751557</li><li>Missing at 563-565</li><li>Missing at 564-566</li>									<li>rs751557</li><li>rs45628843</li><li>rs35908728</li>	2
Q14055	1298		<li>T->M at 246: in dbSNP rsrs6695686</li><li>Q->R at 326: in dbSNP:rs2228564</li><li>Q->W at 326: in IDD; requires 2 nucleotide substitutions, MIM: 603932</li><li>L->V at 335: in dbSNP rsrs2228567, MIM: 603932</li><li>V->I at 581: in dbSNP:rs3737821, MIM: 603932</li>							P98153	Intervertebral disc disease (IDD) [MIM:603932]	<li>rs3737821</li><li>rs2228567</li><li>rs6695686</li><li>rs2228564</li>	2
Q14088	9363		<li>M->T at 102</li>										2
Q14093	1539		<li>D->Y at 146: in dbSNP:rs13293961</li><li>G->D at 184: in dbSNP:rs10990424</li><li>K->E at 190: in dbSNP:rs2298050</li><li>G->D at 208: in dbSNP:rs2298051</li><li>A->E at 319: in dbSNP:rs3763636</li>									<li>rs13293961</li><li>rs3763636</li><li>rs2298051</li><li>rs2298050</li><li>rs10990424</li>	2
Q14094	10983		<li>V->I at 207: in dbSNP:rs4252903</li>									rs4252903	2
Q14112	22795		<li>P->S at 1238: in a breast cancer sample; somatic mutation</li>										2
Q14114	7804		<li>R->Q at 25: in dbSNP:rs4926972</li><li>D->E at 46: in dbSNP:rs3820198</li><li>V->M at 453: in dbSNP:rs5180</li><li>W->C at 466: in dbSNP:rs5181</li><li>Q->R at 607: in dbSNP:rs5172</li><li>I->L at 611: in dbSNP:rs5170</li><li>S->T at 653: in dbSNP:rs5171</li><li>R->Q at 952: associated with susceptibility to myocardial infarction type 1; increases activation of MAPK14 by oxidized low density lipoprotein; dbSNP:rs5174</li>							<li>Q95NE7</li><li>O02812</li><li>Q16539</li>		<li>rs5180</li><li>rs5181</li><li>rs3820198</li><li>rs5171</li><li>rs5170</li><li>rs4926972</li><li>rs5174</li><li>rs5172</li>	2
Q14117	1807		<li>T->R at 68: in DHP deficiency, MIM: 222748</li><li>Q->R at 334: in DHP deficiency, MIM: 222748</li><li>W->R at 360: in DHP deficiency, MIM: 222748</li><li>G->R at 435: in DHP deficiency, MIM: 222748</li><li>R->T at 490: in DHP deficiency, MIM: 222748</li>							<li>Q9EQF5</li><li>Q63150</li><li>Q14117</li>	DHP deficiency [MIM:222748]		2
Q14118	1605		<li>S->W at 14: in dbSNP:rs2131107</li>									rs2131107	2
Q14126	1829		<li>R->Q at 46: in ARVD10, MIM: 610193</li><li>R->H at 49: in ARVD10, MIM: 610193</li><li>Y->C at 89: in dbSNP:rs2230232, MIM: 610193</li><li>I->V at 293: in dbSNP:rs2230234, MIM: 610193</li><li>C->Y at 507: in ARVD10, MIM: 610193</li><li>V->I at 515: in dbSNP:rs2230235, MIM: 610193</li><li>R->K at 773: in dbSNP:rs2278792, MIM: 610193</li><li>G->C at 812: in ARVD10, MIM: 610193</li><li>M->L at 863: in dbSNP:rs16962093, MIM: 610193</li><li>T->I at 903: in dbSNP:rs34065672, MIM: 610193</li>								Familial arrhythmogenic right ventricular dysplasia 10 (ARVD10) [MIM:610193]	<li>rs16962093</li><li>rs2278792</li><li>rs2230234</li><li>rs34065672</li><li>rs2230235</li><li>rs2230232</li>	2
Q14129	8214		<li>A->V at 117: in dbSNP:rs16983281</li>									rs16983281	2
Q14134	23650		<li>S->F at 514: in a breast cancer sample; somatic mutation</li>										2
Q14135	9686		<li>M->I at 32: in dbSNP:rs2276749</li>									rs2276749	2
Q14142	9830		<li>V->M at 219: in dbSNP:rs2296079</li>									rs2296079	2
Q14146	9816		<li>V->G at 778: in dbSNP:rs3811473</li><li>V->M at 1400: in dbSNP:rs12142450</li>									<li>rs3811473</li><li>rs12142450</li>	2
Q14152	8661		<li>E->K at 386: in dbSNP:rs967185</li><li>K->N at 694: in dbSNP:rs431898</li><li>D->E at 993: in dbSNP:rs532138</li>									<li>rs431898</li><li>rs967185</li><li>rs532138</li>	2
Q14154	9812		<li>A->T at 95: in dbSNP:rs17850821</li><li>F->L at 128: in dbSNP:rs10036567</li><li>A->T at 247: in dbSNP:rs351260</li><li>R->C at 468: in dbSNP:rs10056676</li>									<li>rs10056676</li><li>rs17850821</li><li>rs10036567</li><li>rs351260</li>	2
Q14156	23167		<li>G->R at 358: in dbSNP:rs2270877</li><li>N->D at 365: in dbSNP:rs1051221</li>									<li>rs2270877</li><li>rs1051221</li>	2
Q14157	9898		<li>Q->H at 482: in dbSNP:rs17849745</li>									rs17849745	2
Q14160	23513		<li>L->P at 422: in dbSNP:rs6558394</li><li>E->V at 674: in dbSNP rsrs10098508</li>									<li>rs10098508</li><li>rs6558394</li>	2
Q14161	9815		<li>N->S at 338: in dbSNP:rs9804905</li><li>N->S at 387: in dbSNP:rs925368</li><li>A->V at 552: in dbSNP:rs11068997</li>									<li>rs925368</li><li>rs11068997</li><li>rs9804905</li>	2
Q14162	8578		<li>V->A at 425: in dbSNP:rs2272011</li><li>R->K at 618: in dbSNP:rs35455643</li><li>D->E at 639: in dbSNP:rs3744644</li><li>R->W at 662: in dbSNP:rs8072430</li><li>S->G at 667: in dbSNP:rs4790250</li><li>G->V at 748: in dbSNP:rs3760460</li>									<li>rs3760460</li><li>rs8072430</li><li>rs4790250</li><li>rs35455643</li><li>rs2272011</li><li>rs3744644</li>	2
Q14166	23170		<li>R->W at 84: in dbSNP:rs138951</li><li>N->S at 95: in dbSNP:rs13058467</li><li>V->M at 297: in dbSNP:rs11704935</li><li>V->M at 464: in dbSNP:rs34074034</li>									<li>rs13058467</li><li>rs34074034</li><li>rs11704935</li><li>rs138951</li>	2
Q14181	23649		<li>G->R at 583: in dbSNP:rs487989</li><li>S->N at 588: in dbSNP:rs7123885</li>									<li>rs7123885</li><li>rs487989</li>	2
Q14183	8448		<li>G->S at 48: in dbSNP:rs1140239</li>									rs1140239	2
Q14186	7027		<li>D->N at 401: in dbSNP:rs4150823</li>									rs4150823	2
Q14188	7029		<li>I->T at 64</li><li>P->S at 81</li>										2
Q14191	7486		<li>K->R at 32: in dbSNP rsrs34477820</li><li>G->V at 92: in a colorectal cancer sample; somatic mutation</li><li>V->I at 114: in dbSNP:rs2230009</li><li>K->N at 125: in WRN, MIM: 277700</li><li>K->E at 135: in WRN, MIM: 277700</li><li>T->P at 172, MIM: 277700</li><li>N->K at 240, MIM: 277700</li><li>T->A at 324: in dbSNP:rs1800390, MIM: 277700</li><li>Q->R at 329: in dbSNP:rs4987237, MIM: 277700</li><li>E->K at 343: in dbSNP:rs11574222, MIM: 277700</li><li>L->F at 383: in dbSNP:rs4987238, MIM: 277700</li><li>L->W at 383, MIM: 277700</li><li>M->I at 387: in dbSNP:rs1800391, MIM: 277700</li><li>N->S at 533: in dbSNP:rs11574240, MIM: 277700</li><li>S->C at 612: in dbSNP:rs11574250, MIM: 277700</li><li>S->F at 708: in dbSNP:rs11574289, MIM: 277700</li><li>Q->L at 724, MIM: 277700</li><li>R->C at 834: in dbSNP:rs3087425, MIM: 277700</li><li>I->S at 912: in dbSNP:rs11574323, MIM: 277700</li><li>F->L at 1074: in dbSNP:rs1801195, MIM: 277700</li><li>S->L at 1079: in dbSNP:rs3087414, MIM: 277700</li><li>S->A at 1133: in dbSNP:rs11574358, MIM: 277700</li><li>S->L at 1141, MIM: 277700</li><li>K->E at 1269, MIM: 277700</li><li>V->I at 1339: in dbSNP:rs11574395, MIM: 277700</li><li>C->R at 1367: polymorphism associated with a higher risk of myocardial infarction; dbSNP:rs1346044, MIM: 277700</li>							Q14191	Werner syndrome (WRN) [MIM:277700]	<li>rs3087414</li><li>rs11574240</li><li>rs11574358</li><li>rs11574323</li><li>rs3087425</li><li>rs34477820</li><li>rs4987237</li><li>rs1346044</li><li>rs1800391</li><li>rs11574289</li><li>rs2230009</li><li>rs1800390</li><li>rs4987238</li><li>rs11574250</li><li>rs1801195</li><li>rs11574395</li><li>rs11574222</li>	2
Q14194	1400		<li>V->I at 461: in dbSNP:rs34611001</li>									rs34611001	2
Q14195	1809		<li>A->S at 442: in dbSNP:rs2304044</li>									rs2304044	2
Q14197	3396		<li>R->P at 8: in dbSNP:rs3744206</li><li>L->F at 77: in dbSNP:rs10512599</li>									<li>rs3744206</li><li>rs10512599</li>	2
Q14203	1639		<li>G->S at 59: in PLMND, MIM: 607641</li><li>A->P at 163, MIM: 607641</li><li>L->M at 287: in dbSNP:rs13420401, MIM: 607641</li><li>R->Q at 495: in dbSNP:rs17721059, MIM: 607641</li>								Progressive lower motor neuron disease (PLMND) [MIM:607641]	<li>rs17721059</li><li>rs13420401</li>	2
Q14204	1778		<li>D->N at 3902: in dbSNP:rs17512818</li><li>H->Q at 4029: in dbSNP:rs10129889</li>									<li>rs10129889</li><li>rs17512818</li>	2
Q14209	1870		<li>G->R at 205: in dbSNP:rs2229297</li><li>Q->H at 226: in dbSNP:rs2075995</li>									<li>rs2075995</li><li>rs2229297</li>	2
Q14210	8581		<li>A->T at 10: in dbSNP:rs2572925</li>									rs2572925	2
Q14213	10148		<li>A->V at 174: in dbSNP:rs1803524</li><li>V->I at 201: in dbSNP:rs4740</li>									<li>rs1803524</li><li>rs4740</li>	2
Q14232	1967		<li>N->Y at 208: in VWM, MIM: 603896</li>								Leukoencephalopathy with vanishing white matter (VWM) [MIM:603896]		2
Q14240	1974		<li>Q->H at 93: in dbSNP:rs11538616</li><li>V->L at 181: in a breast cancer sample; somatic mutation</li>									rs11538616	2
Q14241			<li>T->M at 119: in dbSNP:rs2235541</li><li>V->I at 298: in dbSNP:rs520713</li><li>A->V at 490: in dbSNP:rs550252</li>									<li>rs2235541</li><li>rs520713</li><li>rs550252</li>	2
Q14244	9053		<li>V->I at 361: in dbSNP:rs35350783</li><li>R->P at 526: in dbSNP:rs35107962</li><li>R->W at 558: in dbSNP:rs2076190</li>									<li>rs2076190</li><li>rs35107962</li><li>rs35350783</li>	2
Q14246	2015		<li>R->L at 2: in dbSNP:rs34176643</li><li>A->T at 57: in dbSNP:rs330877</li><li>S->R at 140: in dbSNP:rs330880</li><li>D->N at 174: in dbSNP:rs897738</li><li>N->S at 254: in dbSNP:rs443658</li><li>A->V at 298: in dbSNP:rs370094</li><li>T->M at 389: in dbSNP:rs466876</li><li>V->I at 424: in dbSNP:rs457857</li><li>Q->K at 496: in dbSNP:rs373533</li><li>V->I at 539: in dbSNP:rs461645</li><li>V->I at 589: in dbSNP:rs7256147</li><li>T->M at 663: in dbSNP:rs2228539</li><li>F->C at 691: in dbSNP:rs2229769</li><li>V->L at 724: in dbSNP:rs10406580</li>									<li>rs330877</li><li>rs443658</li><li>rs461645</li><li>rs466876</li><li>rs330880</li><li>rs897738</li><li>rs2228539</li><li>rs34176643</li><li>rs370094</li><li>rs373533</li><li>rs457857</li><li>rs7256147</li><li>rs10406580</li><li>rs2229769</li>	2
Q14249	2021		<li>L->S at 12: in dbSNP:rs2293969</li>									rs2293969	2
Q14254			<li>A->T at 279: in dbSNP:rs3736238</li>									rs3736238	2
Q14258	7706		<li>V->G at 89: in dbSNP:rs7212260</li><li>L->P at 358: in dbSNP:rs205498</li>									<li>rs205498</li><li>rs7212260</li>	2
Q14264	2086		<li>T->I at 90: in dbSNP:rs6460219</li><li>C->Y at 192: in dbSNP rsrs34639489</li><li>Y->C at 236</li><li>N->S at 481: in dbSNP:rs4618579</li><li>L->P at 522</li><li>N->S at 569: in dbSNP:rs4717229</li>									<li>rs4717229</li><li>rs6460219</li><li>rs4618579</li><li>rs34639489</li>	2
Q14296	10922		<li>V->L at 424: in a lung adenocarcinoma sample; somatic mutation</li><li>A->V at 436: in dbSNP:rs2288648</li>									rs2288648	2
Q14314	10875		<li>G->E at 53: in dbSNP:rs2075761</li>									rs2075761	2
Q14318	23770		<li>A->V at 87: in dbSNP:rs11574806</li>									rs11574806	2
Q14324			<li>G->S at 52: in dbSNP:rs25669</li><li>V->I at 625: in dbSNP:rs25665</li><li>R->H at 1090: in dbSNP:rs25667</li>									<li>rs25669</li><li>rs25665</li><li>rs25667</li>	2
Q14331	2483		<li>T->A at 19: in dbSNP:rs17797703</li><li>K->E at 66: in dbSNP:rs17406826</li>									<li>rs17406826</li><li>rs17797703</li>	2
Q14353	2593		<li>T->M at 209: in dbSNP:rs17851582</li>									rs17851582	2
Q14390	91227		<li>E->G at 70: in dbSNP:rs2904923</li>									rs2904923	2
Q14392	2615		<li>L->V at 223: in dbSNP:rs35033061</li><li>G->A at 311: in dbSNP:rs35130967</li>									<li>rs35033061</li><li>rs35130967</li>	2
Q14397	2646		<li>E->G at 77: in dbSNP:rs8179206</li><li>G->S at 256: in dbSNP:rs8179212</li><li>P->L at 446: in dbSNP:rs1260326</li><li>R->Q at 540: in dbSNP:rs8179249</li>									<li>rs1260326</li><li>rs8179206</li><li>rs8179249</li><li>rs8179212</li>	2
Q14457	8678		<li>A->V at 103</li><li>I->T at 403</li>										2
Q14494	4779		<li>D->H at 63: in dbSNP:rs2229367</li>									rs2229367	2
Q14498	9584		<li>A->V at 2: in dbSNP:rs1803701</li>									rs1803701	2
Q14500	3768		<li>R->Q at 6: in dbSNP:rs3752032</li><li>S->L at 15: in dbSNP:rs1657738</li><li>P->L at 156: in dbSNP:rs1714864</li><li>I->V at 249: in dbSNP:rs4985866</li>									<li>rs4985866</li><li>rs1657738</li><li>rs1714864</li><li>rs3752032</li>	2
Q14507	10876		<li>G->C at 62: in dbSNP:rs34552133</li>									rs34552133	2
Q14511	4739		<li>D->N at 178: in dbSNP:rs11546959</li><li>P->L at 304: in dbSNP:rs34184473</li><li>T->M at 577: in dbSNP:rs3734401</li>									<li>rs34184473</li><li>rs3734401</li><li>rs11546959</li>	2
Q14515	8404		<li>D->A at 49: in dbSNP:rs13051</li>									rs13051	2
Q14520	3026		<li>V->I at 90: in dbSNP:rs11575750</li><li>E->Q at 393: in Marburg II polymorphism; dbSNP:rs11575688</li><li>G->E at 534: in Marburg I polymorphism; impairs the pro-urokinase activating potency; could be a prominent risk predictor of carotid stenosis; dbSNP:rs7080536</li>									<li>rs7080536</li><li>rs11575688</li><li>rs11575750</li>	2
Q14527	6596		<li>N->S at 311: in dbSNP:rs2305868</li><li>E->Q at 362: in dbSNP:rs2228257</li><li>R->H at 819: in dbSNP:rs2229361</li>									<li>rs2305868</li><li>rs2229361</li><li>rs2228257</li>	2
Q14533	3887		<li>G->R at 52: in dbSNP:rs2071588</li><li>R->L at 248: in dbSNP:rs6580873</li><li>R->C at 316: in dbSNP:rs4761786</li><li>E->K at 402: in Monilethrix, MIM: 158000</li><li>E->K at 413: in Monilethrix: in dbSNP rsrs57419521, MIM: 158000</li>								Monilethrix [MIM:158000]	<li>rs4761786</li><li>rs6580873</li><li>rs2071588</li><li>rs57419521</li>	2
Q14541			<li>M->I at 190: in dbSNP:rs1805098</li>									rs1805098	2
Q14542	3177		<li>D->Y at 5: in dbSNP rsrs8187643</li><li>N->K at 68: in dbSNP rsrs8187644</li><li>P->L at 94: in dbSNP rsrs8187648</li><li>SGV->M at 184-186: in dbSNP rsrs8187654,rs8187653</li>									<li>rs8187653</li><li>rs8187654</li><li>rs8187643</li><li>rs8187644</li><li>rs8187648</li>	2
Q14549	2636		<li>A->T at 194: in dbSNP:rs11975799</li>									rs11975799	2
Q14554	10954		<li>T->M at 391: in dbSNP:rs2292661</li>									rs2292661	2
Q14563	10371		<li>A->T at 131: in a breast cancer sample; somatic mutation</li>										2
Q14566	4175		<li>E->V at 35: in dbSNP:rs3087355</li><li>E->K at 806: in dbSNP:rs4988283</li>									<li>rs4988283</li><li>rs3087355</li>	2
Q14568			<li>T->A at 235: in dbSNP:rs1826330</li><li>C->Y at 312: in dbSNP:rs2726836</li>									<li>rs1826330</li><li>rs2726836</li>	2
Q14573	3710		<li>L->W at 374: in dbSNP:rs2229646</li><li>R->Q at 667: in dbSNP:rs11963294</li><li>D->E at 742: in dbSNP:rs2229633</li><li>G->V at 1029: in dbSNP:rs2296333</li><li>L->V at 1552: in dbSNP:rs9461899</li><li>R->Q at 1850: in dbSNP:rs12528378</li><li>E->Q at 2398: in dbSNP:rs2229641</li><li>L->V at 2436: in dbSNP:rs2229642</li>									<li>rs2296333</li><li>rs12528378</li><li>rs2229646</li><li>rs2229642</li><li>rs2229633</li><li>rs2229641</li><li>rs9461899</li><li>rs11963294</li>	2
Q14574	1825		<li>A->D at 28: in dbSNP:rs2852003</li><li>S->T at 78: in dbSNP:rs276937</li><li>R->K at 102: in dbSNP:rs276938</li><li>K->Q at 180: in dbSNP:rs35296997</li><li>R->W at 199: in dbSNP:rs276921</li><li>N->S at 239: in dbSNP:rs35630063</li>									<li>rs35630063</li><li>rs35296997</li><li>rs276921</li><li>rs276938</li><li>rs2852003</li><li>rs276937</li>	2
Q14584	10781		<li>P->L at 519: in dbSNP:rs10515</li>									rs10515	2
Q14587	10795		<li>T->M at 175: in dbSNP:rs7975069</li>									rs7975069	2
Q14588	10780		<li>V->I at 16: in dbSNP:rs2293587</li><li>V->M at 208: in dbSNP:rs11668974</li>									<li>rs2293587</li><li>rs11668974</li>	2
Q14590	9310		<li>H->P at 296: in dbSNP:rs2125579</li>									rs2125579	2
Q14623	3549		<li>P->L at 46: in ACFD, MIM: 607778</li><li>E->K at 95: in BDA1, MIM: 112500</li><li>D->E at 100: in BDA1, MIM: 112500</li><li>D->N at 100: in BDA1: in dbSNP rsrs28936377, MIM: 112500</li><li>E->K at 131: in BDA1, MIM: 112500</li><li>V->A at 190: in ACFD, MIM: 607778</li>								<li>Acrocapitofemoral dysplasia (ACFD) [MIM:607778]</li><li>Brachydactyly type A1 (BDA1) [MIM:112500]</li>	rs28936377	2
Q14624	3700		<li>I->N at 85: in dbSNP:rs13072536</li><li>I->N at 86</li><li>Q->L at 669: in dbSNP:rs2276814</li><li>P->T at 698: in dbSNP:rs4687657</li><li>M->I at 714: in dbSNP:rs2256734</li><li>L->P at 791: in dbSNP:rs2535621</li>									<li>rs2535621</li><li>rs2256734</li><li>rs13072536</li><li>rs4687657</li><li>rs2276814</li>	2
Q14626	3590		<li>P->T at 65: in dbSNP:rs11575589</li><li>R->W at 395: in dbSNP:rs11575580</li>									<li>rs11575580</li><li>rs11575589</li>	2
Q14627	3598		<li>W->R at 111: in dbSNP:rs17095919</li>									rs17095919	2
Q14642	3632		<li>K->R at 45: in dbSNP:rs1133400</li>									rs1133400	2
Q14643	3708		<li>M->V at 769: in dbSNP:rs35789999</li><li>I->V at 1430: in dbSNP:rs3749383</li>									<li>rs3749383</li><li>rs35789999</li>	2
Q14651	5357		<li>I->M at 146: in dbSNP:rs35710125</li><li>S->L at 216: in dbSNP:rs35435507</li>									<li>rs35435507</li><li>rs35710125</li>	2
Q14654			<li>E->K at 10: rare polymorphism</li><li>E->K at 23: linked to V-337; dbSNP:rs5219</li><li>R->H at 34: in HHF2, MIM: 601820</li><li>F->L at 35: in PNDM, MIM: 606176</li><li>F->V at 35: in PNDM, MIM: 606176</li><li>G->D at 40: in HHF2, MIM: 601820</li><li>C->R at 42: in TNDM3; increased spontaneous open probability; reduced ATP sensitivity; reduced expression at the cell surface of the functional ATP-sensitive form, MIM: 610582</li><li>H->Y at 46: in PNDM; one patient with mild dysmorphic features, MIM: 606176</li><li>R->P at 50: in PNDM; decreased inhibition by ATP; enhanced activation by Mg, MIM: 606176</li><li>R->Q at 50: in PNDM; decreased inhibition by ATP; enhanced activation by Mg, MIM: 606176</li><li>Q->R at 52: in PNDM; with developmental delay and epilepsy; produces larger current and more change in ATP sensitivity than mutation associated with mild disease C-201, MIM: 606176</li><li>G->D at 53: in PNDM; with developmental delay and epilepsy, MIM: 606176</li><li>G->R at 53: in TNDM3; also found in a family member with PNDM; reduction in the sensitivity to ATP when compared with wild-type, MIM: 610582</li><li>G->S at 53: in TNDM3; also found in a family member with PNDM; reduction in the sensitivity to ATP when compared with wild-type, MIM: 610582</li><li>F->L at 55: in HHF2; does neither affect channel expression nor channel response to MgADP, MIM: 601820</li><li>V->G at 59: in PNDM; with developmental delay and epilepsy; with neurologic features; produces larger current and more change in ATP sensitivity than mutation associated with mild disease C-201; decreases ATP sensitivity indirectly by favoring the open conformation of the channel, MIM: 606176</li><li>V->M at 59: in PNDM; four patients with developmental delay and muscle weakness, MIM: 606176</li><li>K->N at 67: in HHF2, MIM: 601820</li><li>W->R at 91: in HHF2, MIM: 601820</li><li>A->D at 101: in HHF2, MIM: 601820</li><li>S->P at 116: in HHF2, MIM: 601820</li><li>G->A at 134: in HHF2, MIM: 601820</li><li>R->L at 136: in HHF2, MIM: 601820</li><li>L->P at 147: in HHF2; dbSNP:rs28936678, MIM: 601820</li><li>I->S at 148, MIM: 601820</li><li>L->P at 164: in PNDM, MIM: 606176</li><li>C->Y at 166: in PNDM; individual also diagnosed with West syndrome, MIM: 606176</li><li>K->N at 170: in PNDM, MIM: 606176</li><li>K->R at 170: in PNDM, MIM: 606176</li><li>K->T at 170: in PNDM, MIM: 606176</li><li>I->V at 182: in TNDM3; reduction in the sensitivity to ATP when compared with wild-type, MIM: 610582</li><li>R->H at 195: in dbSNP:rs5217, MIM: 610582</li><li>R->C at 201: in PNDM; two individuals with developmental delay; produces smaller current and less change in ATP sensitivity than mutations associated with severe disease R-52 and G-59, MIM: 606176</li><li>R->H at 201: in PNDM; ability of ATP to block mutant channels greatly reduced, MIM: 606176</li><li>R->L at 201: in PNDM, MIM: 606176</li><li>P->L at 254: in HHF2; impairs trafficking of the mutant channel, MIM: 601820</li><li>H->R at 259: in HHF2; impairs trafficking and abolishes channel function, MIM: 601820</li><li>P->L at 266: in HHF2, MIM: 601820</li><li>L->V at 270: in dbSNP:rs1800467, MIM: 601820</li><li>I->L at 296: in PNDM; with developmental delay and epilepsy, MIM: 606176</li><li>R->H at 301: in HHF2, MIM: 601820</li><li>E->K at 322: in PNDM, MIM: 606176</li><li>Y->C at 330: in PNDM, MIM: 606176</li><li>Y->S at 330: in PNDM, MIM: 606176</li><li>F->I at 333: in PNDM, MIM: 606176</li><li>I->V at 337: linked to K-23; dbSNP:rs5215, MIM: 606176</li><li>L->P at 355: in NIDDM; Afro-Caribbean, MIM: 606176</li><li>P->PKP at 380: in NIDDM, MIM: 606176</li><li>S->C at 385, MIM: 606176</li>					cell surface	GO:0009928,GO:0009986	<li>Q8NIG3</li><li>Q75AX1</li><li>P02309</li>	<li>Transient neonatal diabetes mellitus type 3 (TNDM3) [MIM:610582]</li><li>Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820]</li><li>Permanent neonatal diabetes mellitus (PNDM) [MIM:606176]</li>	<li>rs1800467</li><li>rs5217</li>	2
Q14656	8269		<li>S->L at 70: in dbSNP:rs2266890</li><li>M->V at 78: in dbSNP:rs7350355</li><li>R->Q at 138: in dbSNP:rs36085378</li>									<li>rs2266890</li><li>rs36085378</li><li>rs7350355</li>	2
Q14667	9703		<li>H->Q at 986: in dbSNP:rs16964472</li><li>V->G at 1516: in dbSNP:rs12602520</li><li>R->G at 2060: in dbSNP:rs16964462</li>									<li>rs16964462</li><li>rs12602520</li><li>rs16964472</li>	2
Q14678	23189		<li>N->K at 206: in dbSNP:rs17857145</li><li>H->Q at 210: in dbSNP:rs28374506</li><li>K->R at 321: in dbSNP:rs17857159</li><li>E->Q at 432: in dbSNP:rs4465020</li><li>S->A at 464: in dbSNP:rs912174</li><li>A->V at 664: in dbSNP:rs3824421</li><li>R->H at 667: in dbSNP:rs3824420</li><li>N->S at 901: in dbSNP:rs12352313</li><li>I->T at 1055: in dbSNP:rs34832656</li>									<li>rs17857145</li><li>rs4465020</li><li>rs17857159</li><li>rs34832656</li><li>rs12352313</li><li>rs28374506</li><li>rs912174</li><li>rs3824421</li><li>rs3824420</li>	2
Q14679	9654		<li>N->S at 17: in dbSNP:rs11542786</li><li>E->Q at 34: in dbSNP:rs3731877</li><li>L->P at 364: in dbSNP:rs3731875</li><li>R->H at 418: in dbSNP:rs2114664</li><li>G->S at 518: in dbSNP:rs17851914</li><li>S->G at 524: in dbSNP:rs17851915</li><li>A->S at 852: in dbSNP:rs17856640</li>									<li>rs11542786</li><li>rs17851914</li><li>rs2114664</li><li>rs3731875</li><li>rs17856640</li><li>rs17851915</li><li>rs3731877</li>	2
Q14687	23199		<li>R->W at 627: in a colorectal cancer sample; somatic mutation</li><li>V->A at 936: in dbSNP:rs17853763</li><li>R->Q at 1153: in dbSNP:rs2303203</li>									<li>rs2303203</li><li>rs17853763</li>	2
Q14689	23181		<li>P->A at 191: in dbSNP:rs7283507</li><li>S->N at 372: in dbSNP:rs16979312</li>									<li>rs7283507</li><li>rs16979312</li>	2
Q14690	22984		<li>S->N at 397: in dbSNP:rs7074814</li><li>A->S at 623: in dbSNP:rs11598673</li><li>A->S at 780: in dbSNP:rs11591914</li><li>L->F at 1216: in dbSNP:rs2986014</li><li>P->S at 1453: in dbSNP:rs2274289</li><li>D->A at 1871: in dbSNP:rs7831</li>									<li>rs2274289</li><li>rs7074814</li><li>rs11598673</li><li>rs2986014</li><li>rs11591914</li><li>rs7831</li>	2
Q14691	9837		<li>V->I at 97: in dbSNP:rs6076347</li>									rs6076347	2
Q14693	23175		<li>G->E at 56: in a colorectal cancer sample; somatic mutation</li><li>P->S at 610: in dbSNP:rs4669781</li><li>S->T at 637: in dbSNP:rs17852755</li>									<li>rs4669781</li><li>rs17852755</li>	2
Q14695	100134802		<li>S->N at 85: in dbSNP:rs740182</li>									rs740182	2
Q14703	8720		<li>I->T at 6: in dbSNP:rs34701895</li><li>R->G at 90: in dbSNP:rs34076105</li>									<li>rs34701895</li><li>rs34076105</li>	2
Q14714	8082		<li>S->N at 186: in dbSNP:rs12313670</li><li>V->I at 228: in dbSNP:rs12313736</li>									<li>rs12313670</li><li>rs12313736</li>	2
Q14721	3745		<li>P->S at 825: in dbSNP:rs34467662</li>									rs34467662	2
Q14739	3930		<li>P->L at 119: in PHA, MIM: 169400</li><li>S->N at 154: in dbSNP:rs2230419, MIM: 169400</li><li>R->C at 169: in dbSNP:rs2230420, MIM: 169400</li><li>T->A at 311: in dbSNP:rs2275601, MIM: 169400</li><li>P->R at 569: in PHA, MIM: 169400</li>							P80463	Pelger-Huet anomaly (PHA) [MIM:169400]	<li>rs2230420</li><li>rs2230419</li><li>rs2275601</li>	2
Q14746	22796		<li>R->H at 288: in dbSNP:rs34796217</li><li>N->K at 304: in dbSNP:rs6681346</li><li>V->I at 589: in dbSNP:rs34109129</li>									<li>rs34796217</li><li>rs6681346</li><li>rs34109129</li>	2
Q14749	27232		<li>L->P at 50: in GNMT deficiency; 10% wild-type activity, MIM: 606664</li><li>N->S at 141: in GNMT deficiency; 0.5% wild-type activity, MIM: 606664</li><li>H->N at 177: in GNMT deficiency; 75% wild-type activity, MIM: 606664</li>							<li>Q29513</li><li>Q29555</li><li>Q14749</li>	GNMT deficiency (also known as hypermethioninemia) [MIM:606664]		2
Q14764	9961		<li>V->I at 635: in dbSNP:rs35916172</li><li>R->Q at 651: in dbSNP:rs3764944</li>									<li>rs3764944</li><li>rs35916172</li>	2
Q14765	6775		<li>E->Q at 112: in a breast cancer sample; somatic mutation</li><li>I->V at 115: in dbSNP:rs3024839</li><li>R->W at 584: in dbSNP:rs3024933</li>									<li>rs3024839</li><li>rs3024933</li>	2
Q14773	3386		<li>Q->R at 100: in LW</li><li>V->L at 208: in dbSNP rsrs36023325</li>									rs36023325	2
Q14774	3142		<li>S->P at 116: in dbSNP:rs12141189</li><li>P->L at 356: in dbSNP:rs2738755</li><li>A->G at 387: in dbSNP:rs11578466</li>									<li>rs2738755</li><li>rs12141189</li><li>rs11578466</li>	2
Q14789	2804		<li>Q->H at 348: in a breast cancer sample; somatic mutation</li><li>T->S at 911: in dbSNP:rs3732407</li><li>A->G at 944: in a breast cancer sample; somatic mutation</li><li>Y->C at 1212: in dbSNP:rs3732410</li><li>P->S at 1249: in dbSNP:rs33988592</li><li>C->F at 1713: in dbSNP:rs35674179</li><li>G->D at 1765: in dbSNP:rs1127412</li>									<li>rs1127412</li><li>rs33988592</li><li>rs3732407</li><li>rs3732410</li><li>rs35674179</li>	2
Q147U1	162993		<li>C->Y at 450: in dbSNP:rs10414485</li><li>Y->C at 492: in dbSNP:rs10420364</li>									<li>rs10414485</li><li>rs10420364</li>	2
Q147U7	255798		<li>H->Y at 20: in dbSNP:rs9869292</li><li>R->W at 64: in dbSNP:rs11926701</li>									<li>rs9869292</li><li>rs11926701</li>	2
Q14802	5349		<li>G->S at 40: in dbSNP:rs35578165</li>									rs35578165	2
Q14831	2917		<li>Y->F at 433: in dbSNP:rs2229902</li><li>I->V at 495: in dbSNP:rs7634846</li><li>G->E at 745: in dbSNP:rs1485174</li>									<li>rs1485174</li><li>rs2229902</li><li>rs7634846</li>	2
Q14832	2913		<li>G->D at 475: in dbSNP:rs17161026</li>									rs17161026	2
Q14833	2914		<li>L->F at 169: in dbSNP:rs452752</li><li>V->I at 797</li>									rs452752	2
Q14839			<li>D->E at 139: in dbSNP:rs1639122</li><li>S->L at 1648: in dbSNP:rs35512811</li><li>I->V at 1655: in dbSNP:rs16932768</li>									<li>rs1639122</li><li>rs16932768</li><li>rs35512811</li>	2
Q14849	10948		<li>R->Q at 117: in dbSNP:rs1877031</li><li>G->A at 216: in dbSNP:rs11556624</li>									<li>rs1877031</li><li>rs11556624</li>	2
Q14896			<li>G->R at 5: in CMH4, MIM: 115197</li><li>T->A at 59: in CMH4, MIM: 115197</li><li>V->M at 158: in dbSNP:rs3729986, MIM: 115197</li><li>P->S at 161: in CMH4, MIM: 115197</li><li>V->I at 189: in dbSNP:rs11570052, MIM: 115197</li><li>V->L at 219: in CMH4, MIM: 115197</li><li>D->N at 228: in CMH4, MIM: 115197</li><li>S->G at 236: in dbSNP:rs3729989, MIM: 115197</li><li>Y->S at 237: in CMH4, MIM: 115197</li><li>V->I at 256: in CMH4, MIM: 115197</li><li>H->P at 257: in CMH4, MIM: 115197</li><li>E->K at 258: in CMH4, MIM: 115197</li><li>G->R at 263: in CMH4, MIM: 115197</li><li>R->H at 273: in CMH4, MIM: 115197</li><li>G->E at 278: in CMH4, MIM: 115197</li><li>G->A at 279: in CMH4, MIM: 115197</li><li>R->Q at 281: in dbSNP:rs11570060, MIM: 115197</li><li>R->W at 282: in CMH4, MIM: 115197</li><li>R->Q at 326: in dbSNP:rs34580776, MIM: 115197</li><li>L->P at 352: in CMH4, MIM: 115197</li><li>R->W at 382: in dbSNP:rs11570076, MIM: 115197</li><li>L->V at 383: in dbSNP:rs11570077, MIM: 115197</li><li>G->S at 415, MIM: 115197</li><li>A->S at 416: in CMH4, MIM: 115197</li><li>E->Q at 450: in CMH4, MIM: 115197</li><li>R->H at 457: in CMH4, MIM: 115197</li><li>G->R at 489: in CMH4, MIM: 115197</li><li>R->G at 494: in CMH4, MIM: 115197</li><li>R->Q at 494: in CMH4, MIM: 115197</li><li>R->Q at 501: in CMH4, MIM: 115197</li><li>R->W at 501: in CMH4, MIM: 115197</li><li>Missing  at 503: in CMH4, MIM: 115197</li><li>G->R at 506: in CMH4, MIM: 115197</li><li>A->T at 521: in dbSNP:rs11570082, MIM: 115197</li><li>G->W at 522: in CMH4, MIM: 115197</li><li>E->Q at 541: in CMH4, MIM: 115197</li><li>L->M at 544, MIM: 115197</li><li>C->R at 565: in CMH4, MIM: 115197</li><li>D->V at 603: in CMH4, MIM: 115197</li><li>D->N at 604: in CMH4; pathogenicity remains to be determined, MIM: 115197</li><li>P->L at 607: in CMH4, MIM: 115197</li><li>R->H at 653: in CMH4; as well folded and stable as the wild-type; dbSNP:rs1800565, MIM: 115197</li><li>R->H at 667: in CMH4, MIM: 115197</li><li>R->P at 667: in CMH4, MIM: 115197</li><li>L->H at 668: in CMH4, MIM: 115197</li><li>R->C at 732: in CMH4, MIM: 115197</li><li>N->K at 754: in CMH4; destabilizes the structure of Ig-like C2-type domain 5, MIM: 115197</li><li>E->D at 758: in CMH4, MIM: 115197</li><li>D->N at 769: in CMH4, MIM: 115197</li><li>W->R at 791: in CMH4, MIM: 115197</li><li>R->H at 809: in CMH4, MIM: 115197</li><li>K->R at 810: in CMH4, MIM: 115197</li><li>Missing  at 810: in CMH4, MIM: 115197</li><li>Missing  at 812: in CMH4, MIM: 115197</li><li>R->Q at 819: in CMH4; dbSNP:rs2856655, MIM: 115197</li><li>A->T at 832: in CMH4; pathogenicity is uncertain, MIM: 115197</li><li>A->V at 832: in CMH4; dbSNP:rs3729952, MIM: 115197</li><li>R->T at 833: in CMH4, MIM: 115197</li><li>R->W at 833: in CMH4; pathogenicity is uncertain, MIM: 115197</li><li>P->H at 872: in CMH4, MIM: 115197</li><li>V->M at 895: may act as a phenotype modifier in cardiomyopathy patients; dbSNP:rs35078470, MIM: 115197</li><li>N->T at 947: in CMH4, MIM: 115197</li><li>Q->E at 997: in CMH4; dbNP:11570112, MIM: 115197</li><li>Q->R at 997: in CMH4, MIM: 115197</li><li>R->Q at 1001: in CMH4, MIM: 115197</li><li>R->W at 1001: in dbSNP:rs3729799, MIM: 115197</li><li>P->Q at 1002: in CMH4, MIM: 115197</li><li>T->S at 1027: in CMH4, MIM: 115197</li><li>R->C at 1047: in dbSNP:rs11570113, MIM: 115197</li><li>F->I at 1112: in CMH4, MIM: 115197</li><li>V->I at 1114: in CMH4, MIM: 115197</li><li>I->T at 1130: in CMH4; pathogenicity is uncertain, MIM: 115197</li><li>Missing  at 1154: in CMH4, MIM: 115197</li><li>A->T at 1193: in CMH4, MIM: 115197</li><li>G->R at 1247: in CMH4, MIM: 115197</li><li>A->T at 1254: in CMH4, MIM: 115197</li>								Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	<li>rs11570060</li><li>rs11570113</li><li>rs34580776</li><li>rs3729799</li><li>rs11570082</li><li>rs11570077</li><li>rs11570076</li><li>rs3729989</li><li>rs3729986</li><li>rs11570052</li>	2
Q14914	22949		<li>A->S at 27: in dbSNP:rs1053959</li>									rs1053959	2
Q14916	6568		<li>S->N at 76: in dbSNP:rs6933573</li><li>T->I at 269: in dbSNP:rs1165196</li>									<li>rs1165196</li><li>rs6933573</li>	2
Q14929	169841		<li>P->L at 59: in dbSNP:rs1536690</li><li>R->C at 368: in dbSNP:rs12236219</li>									<li>rs12236219</li><li>rs1536690</li>	2
Q14934	4776	<ul><li>S->A at 168: Promotes nuclear localization and increases transcriptional activity; when associated with A-170</li><li>S->A at 170: Promotes nuclear localization and increases transcriptional activity; when associated with A-168</li><li>S->A at 213: Decreased transcriptional activity; when associated with A-217</li><li>S->A at 217: Decreased transcriptional activity; when associated with A-213</li></ul>	<li>G->A at 160: in dbSNP:rs2229309</li><li>S->N at 246: in dbSNP:rs2228231</li><li>S->P at 800: in dbSNP:rs7149586</li>	localization	GO:0051179							<li>rs2228231</li><li>rs7149586</li><li>rs2229309</li>	3
Q14943			<li>R->H at 166</li>										2
Q14954	3806		<li>R->K at 91: in dbSNP rsrs687485</li>									rs687485	2
Q14956	10457		<li>A->D at 110: in a breast cancer sample; somatic mutation</li><li>S->C at 195: in dbSNP:rs530436</li><li>N->H at 197: in dbSNP:rs530413</li><li>S->F at 294: in dbSNP:rs35499907</li><li>P->L at 324: in dbSNP:rs35363287</li><li>S->I at 531: in a breast cancer sample; somatic mutation</li><li>S->R at 538: in dbSNP:rs35878037</li>									<li>rs35878037</li><li>rs35499907</li><li>rs530413</li><li>rs530436</li><li>rs35363287</li>	2
Q14957			<li>R->S at 1212: in dbSNP:rs3744215</li>									rs3744215	2
Q14966	27332		<li>I->V at 110: in dbSNP:rs12612365</li><li>N->S at 980: in dbSNP:rs3732235</li><li>S->N at 1462: in dbSNP:rs10427371</li><li>V->M at 1726: in dbSNP:rs1804020</li><li>A->V at 1912: in dbSNP:rs11542286</li>									<li>rs10427371</li><li>rs11542286</li><li>rs3732235</li><li>rs1804020</li><li>rs12612365</li>	2
Q14973	6554		<li>S->F at 267: in dbSNP:rs2296651</li>									rs2296651	2
Q14978	9221		<li>G->V at 412: in dbSNP:rs11191224</li><li>S->P at 456: in dbSNP:rs1049455</li>									<li>rs11191224</li><li>rs1049455</li>	2
Q14980	4926		<li>K->R at 242: in dbSNP:rs34239655</li><li>A->G at 794: in dbSNP:rs3750913</li><li>E->D at 1153: in dbSNP:rs34311364</li><li>V->M at 1825: in dbSNP:rs7949430</li><li>Y->H at 1836: in dbSNP:rs35586429</li><li>A->T at 2049: in dbSNP:rs5743685</li>									<li>rs3750913</li><li>rs35586429</li><li>rs5743685</li><li>rs34311364</li><li>rs34239655</li><li>rs7949430</li>	2
Q14990	4956		<li>S->N at 216: in dbSNP:rs2916569</li><li>Missing at 219-227</li><li>F->L at 243: in dbSNP:rs11995900</li>									<li>rs2916569</li><li>rs11995900</li>	2
Q14993	1310		<li>A->G at 352: in dbSNP:rs2273426</li><li>G->D at 361: in a breast cancer sample; somatic mutation</li><li>G->E at 406: in dbSNP:rs13204209</li><li>E->G at 496: in dbSNP:rs13204209</li><li>K->N at 1019: in a breast cancer sample; somatic mutation</li>									<li>rs2273426</li><li>rs13204209</li>	2
Q14994	9970		<li>V->G at 133</li>										2
Q14995	9975		<li>P->H at 21: in dbSNP:rs17854365</li><li>Q->K at 282: in dbSNP:rs17857305</li><li>P->R at 288: in dbSNP:rs17857306</li><li>L->M at 386: in dbSNP:rs4858097</li>									<li>rs4858097</li><li>rs17854365</li><li>rs17857306</li><li>rs17857305</li>	2
Q14997	23198		<li>I->V at 872: in dbSNP:rs230287</li><li>S->T at 1371: in dbSNP:rs805408</li>									<li>rs230287</li><li>rs805408</li>	2
Q14999	9820		<li>S->G at 616: in dbSNP:rs7774330</li><li>Q->R at 813: in dbSNP:rs9381231</li><li>R->Q at 852: in dbSNP:rs34574340</li><li>L->R at 1014: in 3MS, MIM: 273750</li><li>Q->G at 1246: in 3MS; requires 2 nucleotide substitutions, MIM: 273750</li><li>Q->H at 1246: in dbSNP:rs36071170, MIM: 273750</li><li>H->P at 1464: in 3MS; impairs the ability to interact with RBX1, thus hampers the assembly of polyubiquitin chains, MIM: 273750</li>							<li>Q08273</li><li>P62877</li><li>Q8QG64</li>	3M syndrome [MIM:273750]	<li>rs36071170</li><li>rs9381231</li><li>rs34574340</li><li>rs7774330</li>	2
Q149M9			<li>G->S at 174: in dbSNP:rs3888834</li><li>L->F at 211: in dbSNP:rs11668502</li><li>T->A at 218: in dbSNP:rs706764</li><li>Q->E at 900: in dbSNP:rs773930</li><li>I->N at 926: in dbSNP:rs2608737</li><li>H->R at 935: in dbSNP:rs2608738</li><li>D->V at 1541: in dbSNP:rs11671361</li>									<li>rs706764</li><li>rs773930</li><li>rs11668502</li><li>rs2608738</li><li>rs2608737</li><li>rs3888834</li><li>rs11671361</li>	2
Q14C87	121256		<li>E->Q at 436: in dbSNP:rs12816729</li><li>D->H at 460: in dbSNP:rs12816538</li><li>L->F at 878: in dbSNP:rs555131</li>									<li>rs555131</li><li>rs12816538</li><li>rs12816729</li>	2
Q14CA7			<li>V->I at 111: in dbSNP:rs17163344</li><li>Q->H at 138: in dbSNP:rs7533480</li><li>F->S at 200: in dbSNP:rs159529</li>									<li>rs17163344</li><li>rs7533480</li><li>rs159529</li>	2
Q14CB8	84986		<li>Q->R at 305: in dbSNP:rs17112598</li>									rs17112598	2
Q14CN2	22802		<li>P->S at 43: in dbSNP:rs2231580</li><li>D->V at 443: in dbSNP:rs2839932</li><li>M->L at 449: in dbSNP:rs1011048</li><li>V->L at 810: in dbSNP:rs2231604</li><li>Missing at 877-878</li>									<li>rs1011048</li><li>rs2839932</li><li>rs2231580</li><li>rs2231604</li>	2
Q14CN4	140807		<li>N->D at 171: in dbSNP:rs11170187</li><li>Y->C at 264: in dbSNP:rs12833456</li><li>D->E at 366: in dbSNP:rs7310138</li><li>R->L at 428: in dbSNP:rs11170183</li>									<li>rs11170187</li><li>rs11170183</li><li>rs12833456</li><li>rs7310138</li>	2
Q14CX7	80018		<li>L->F at 426: in dbSNP:rs16941860</li><li>S->R at 789: in a breast cancer sample; somatic mutation</li><li>K->R at 876: in dbSNP:rs12231744</li><li>L->I at 915: in dbSNP:rs12298022</li>									<li>rs12231744</li><li>rs12298022</li><li>rs16941860</li>	2
Q14CZ0	29035		<li>N->S at 221: in dbSNP:rs34869458</li>									rs34869458	2
Q14CZ7	79072		<li>L->V at 22: in a breast cancer sample; somatic mutation</li><li>R->K at 56: in dbSNP:rs2966952</li><li>E->G at 459: in dbSNP:rs16879259</li>									<li>rs16879259</li><li>rs2966952</li>	2
Q14CZ8	220296		<li>M->V at 218: in dbSNP:rs10790715</li>									rs10790715	2
Q14D04	79674		<li>S->C at 208: in dbSNP:rs34559487</li><li>V->G at 263: in dbSNP:rs1378796</li><li>S->C at 271: in dbSNP:rs1378795</li><li>M->V at 319: in dbSNP:rs11923380</li><li>L->V at 329: in dbSNP:rs34823544</li><li>R->Q at 365: in dbSNP:rs16827563</li><li>S->P at 522: in dbSNP:rs11918974</li>									<li>rs1378796</li><li>rs16827563</li><li>rs11918974</li><li>rs34823544</li><li>rs11923380</li><li>rs34559487</li><li>rs1378795</li>	2
Q14DG7	114795		<li>A->V at 658: in dbSNP:rs16919359</li>									rs16919359	2
Q15003	23397		<li>V->A at 539: in dbSNP:rs2305935</li>									rs2305935	2
Q15007	9589		<li>E->D at 84: in dbSNP:rs35059844</li>									rs35059844	2
Q15011	9709		<li>R->H at 50: in dbSNP:rs2217332</li>									rs2217332	2
Q15020	9733		<li>D->E at 23: in dbSNP:rs2072579</li><li>V->M at 591: in DSAP1, MIM: 175900</li><li>E->D at 621: in dbSNP:rs2287546, MIM: 175900</li>								Disseminated superficial actinic porokeratosis type 1 (DSAP1) [MIM:175900]	<li>rs2072579</li><li>rs2287546</li>	2
Q15022	23512		<li>N->I at 216: in dbSNP:rs17339444</li>									rs17339444	2
Q15024			<li>R->Q at 169: in dbSNP:rs34512144</li><li>L->V at 274: in dbSNP:rs6794</li>									<li>rs6794</li><li>rs34512144</li>	2
Q15025	10318		<li>P->S at 103: in dbSNP:rs2303018</li><li>A->V at 146: in dbSNP:rs2233289</li><li>P->A at 151: in dbSNP:rs2233290</li><li>R->Q at 233: in dbSNP:rs2233292</li><li>A->V at 260: in dbSNP:rs2233295</li>									<li>rs2233295</li><li>rs2233290</li><li>rs2233292</li><li>rs2233289</li><li>rs2303018</li>	2
Q15029	9343		<li>G->V at 773: in dbSNP:rs1056505</li>									rs1056505	2
Q15031	23395		<li>K->N at 727: in dbSNP:rs36054230</li><li>E->D at 831: in dbSNP:rs9827689</li>									<li>rs9827689</li><li>rs36054230</li>	2
Q15032	23518		<li>M->V at 270: in dbSNP:rs961360</li><li>Q->P at 632: in dbSNP:rs2305165</li>									<li>rs2305165</li><li>rs961360</li>	2
Q15034	8916		<li>E->Q at 946: in dbSNP:rs1804080</li>									rs1804080	2
Q15040	9929		<li>S->R at 48: in dbSNP:rs6001200</li>									rs6001200	2
Q15043	23516		<li>P->L at 33: in dbSNP:rs896378</li>									rs896378	2
Q15046	3735		<li>G->A at 179: in dbSNP:rs11557665</li><li>T->S at 595: in dbSNP:rs6834</li>									<li>rs11557665</li><li>rs6834</li>	2
Q15048	9684		<li>G->D at 437: in dbSNP:rs3735854</li>									rs3735854	2
Q15049	23209		<li>G->E at 59: in MLC, MIM: 604004</li><li>P->S at 92: in MLC, MIM: 604004</li><li>S->L at 93: in MLC, MIM: 604004</li><li>T->R at 118: in MLC, MIM: 604004</li><li>N->K at 141: in MLC, MIM: 604004</li><li>N->S at 141: in MLC, MIM: 604004</li><li>C->F at 171: in dbSNP:rs6010260, MIM: 604004</li><li>G->R at 212: in MLC, MIM: 604004</li><li>S->L at 280: in MLC, MIM: 604004</li><li>L->M at 309: in PC, MIM: 604004</li><li>N->S at 344: in dbSNP:rs11568188, MIM: 604004</li>								Megalencephalic leukoencephalopathy with subcortical cysts (MLC) [MIM:604004]	<li>rs6010260</li><li>rs11568188</li>	2
Q15050	23212		<li>Q->H at 116: in dbSNP:rs34077648</li><li>K->R at 126: in dbSNP:rs3739335</li><li>R->L at 191: in dbSNP:rs3739336</li>									<li>rs34077648</li><li>rs3739335</li><li>rs3739336</li>	2
Q15051	9657		<li>F->L at 142: in dbSNP:rs11926958</li><li>I->N at 393: in dbSNP:rs1141528</li><li>R->C at 435: in dbSNP:rs11920543</li>									<li>rs11926958</li><li>rs11920543</li><li>rs1141528</li>	2
Q15052	9459		<li>Q->H at 297: in dbSNP:rs5974620</li>									rs5974620	2
Q15053			<li>Q->K at 26: in dbSNP:rs2269650</li>									rs2269650	2
Q15058	9928		<li>P->A at 1633: in dbSNP:rs12120084</li>									rs12120084	2
Q15059	8019		<li>T->N at 36: in a renal clear cell carcinoma sample; somatic mutation</li><li>A->T at 161: in a gastric adenocarcinoma sample; somatic mutation</li><li>A->V at 172: in dbSNP rsrs34609592</li><li>K->Q at 435: in dbSNP rsrs36093130</li><li>R->H at 441: in dbSNP rsrs56017928</li><li>S->P at 447: in dbSNP rsrs55754444</li>									<li>rs34609592</li><li>rs55754444</li><li>rs36093130</li><li>rs56017928</li>	2
Q15063	10631		<li>T->I at 339: in dbSNP:rs9594223</li><li>V->M at 814: in dbSNP:rs9547952</li>									<li>rs9547952</li><li>rs9594223</li>	2
Q15067	51		<li>G->S at 101: in dbSNP:rs3744032</li><li>T->I at 153: in dbSNP:rs17855420</li><li>G->C at 178: in pseudo-NALD, MIM: 264470</li><li>M->V at 278: in pseudo-NALD, MIM: 264470</li><li>I->M at 312: in dbSNP:rs1135640, MIM: 264470</li>								Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470]	<li>rs1135640</li><li>rs17855420</li><li>rs3744032</li>	2
Q15070			<li>V->A at 44: in dbSNP:rs8572</li><li>V->I at 91: in dbSNP:rs17619</li>									<li>rs17619</li><li>rs8572</li>	2
Q15084	10130		<li>K->R at 214: in dbSNP:rs4807</li>									rs4807	2
Q15102	5050		<li>R->G at 214: in dbSNP:rs1043818</li>									rs1043818	2
Q15109	177		<li>G->S at 82: in dbSNP:rs2070600</li><li>Q->R at 100: in dbSNP rsrs17846806</li>									<li>rs17846806</li><li>rs2070600</li>	2
Q15111	5334		<li>D->N at 445: in dbSNP:rs45506698</li><li>P->S at 454: in dbSNP:rs45506696</li><li>S->F at 546: in dbSNP:rs45596936</li><li>V->I at 667: in dbSNP:rs1064213</li><li>W->C at 684: in dbSNP:rs6741084</li><li>S->N at 937: in dbSNP:rs45452996</li>									<li>rs45452996</li><li>rs1064213</li><li>rs45506696</li><li>rs45506698</li><li>rs6741084</li><li>rs45596936</li>	2
Q15116	5133		<li>A->V at 215: in dbSNP:rs2227982</li>									rs2227982	2
Q15118	5163		<li>A->T at 134: in dbSNP:rs35661499</li><li>N->T at 412: in dbSNP:rs34250425</li>									<li>rs34250425</li><li>rs35661499</li>	2
Q15119	5164		<li>G->R at 342: in a glioblastoma multiforme sample; somatic mutation: in dbSNP rsrs17855787</li>									rs17855787	2
Q15120	5165		<li>E->A at 219: in a head & Neck squamous cell carcinoma sample; somatic mutation</li>										2
Q15126	10654		<li>V->M at 125: in dbSNP:rs16836525</li>									rs16836525	2
Q15131	8558		<li>P->L at 96: in dbSNP rsrs55819627</li><li>N->S at 168: in dbSNP rsrs56340740</li><li>R->H at 342: in dbSNP rsrs55757604</li><li>C->Y at 358: in dbSNP rsrs56242003</li>									<li>rs56242003</li><li>rs55819627</li><li>rs55757604</li><li>rs56340740</li>	2
Q15149	5339		<li>L->LL at 429: in MD-EBS</li><li>A->V at 641: in dbSNP:rs11136336</li><li>Missing  at 1003-1005: in MD-EBS</li><li>R->W at 2110: in O-EBS, MIM: 131950</li><li>R->W at 2150: in dbSNP:rs34893635, MIM: 131950</li><li>A->V at 2194: in dbSNP:rs7002002, MIM: 131950</li><li>S->P at 2791: in dbSNP:rs7833924, MIM: 131950</li><li>R->W at 2821: in dbSNP:rs35723243, MIM: 131950</li><li>R->H at 2969: in dbSNP:rs6558407, MIM: 131950</li><li>V->I at 3162: in dbSNP:rs35027700, MIM: 131950</li><li>A->V at 3171: in dbSNP:rs35858667, MIM: 131950</li><li>T->M at 3486: in dbSNP:rs34725742, MIM: 131950</li><li>G->A at 3490: in dbSNP:rs35261863, MIM: 131950</li>								Epidermolysis bullosa simplex Ogna type (O-EBS) [MIM:131950]	<li>rs34893635</li><li>rs35723243</li><li>rs11136336</li><li>rs7833924</li><li>rs35027700</li><li>rs6558407</li><li>rs35261863</li><li>rs34725742</li><li>rs7002002</li><li>rs35858667</li>	2
Q15154	5108		<li>S->N at 159: in dbSNP:rs412750</li><li>A->D at 176: in dbSNP:rs2285302</li><li>V->M at 597: in dbSNP:rs208753</li><li>S->P at 600: in dbSNP:rs34325017</li><li>A->S at 691: in dbSNP:rs17635381</li><li>G->V at 871: in dbSNP:rs7009117</li><li>R->H at 1251: in dbSNP:rs17514547</li><li>E->D at 1326: in dbSNP:rs34932823</li><li>T->I at 1543: in dbSNP:rs370429</li><li>K->N at 1701: in dbSNP:rs36113670</li><li>N->D at 1865: in dbSNP:rs35789133</li>									<li>rs17635381</li><li>rs370429</li><li>rs35789133</li><li>rs34325017</li><li>rs412750</li><li>rs34932823</li><li>rs7009117</li><li>rs2285302</li><li>rs208753</li><li>rs17514547</li><li>rs36113670</li>	2
Q15155	23420		<li>I->V at 404: in dbSNP:rs2561962</li><li>K->N at 458</li><li>N->D at 490: in dbSNP:rs1062412</li><li>M->V at 493: in dbSNP:rs1062413</li><li>E->K at 1081</li><li>I->F at 1141</li><li>R->G at 1195</li>									<li>rs2561962</li><li>rs1062413</li><li>rs1062412</li>	2
Q15165	5445		<li>A->G at 148: associated with elevated mean fasting plasma glucose level; dbSNP:rs12026</li><li>V->L at 172: in dbSNP:rs17876152</li><li>C->S at 311: associated with increased risk of coronary heart disease; CHD; dbSNP:rs7493</li>							<li>Q2YWJ5</li><li>Q6D6D9</li><li>Q6LGH5</li><li>Q8NE62</li><li>Q0TKW1</li><li>Q8FKI9</li><li>Q9L4K0</li><li>Q6G664</li><li>Q8YFY2</li><li>Q5HCU1</li><li>Q1RFM3</li><li>Q2FV11</li><li>Q985M5</li><li>Q8G1Z8</li><li>Q8UH55</li><li>Q3K5H3</li><li>Q9HTJ2</li><li>Q62CH8</li><li>Q4A0Q1</li><li>Q8P5D7</li><li>Q6GDJ1</li><li>Q1QXE1</li><li>Q88AE7</li><li>Q4K4K7</li><li>Q39A44</li><li>Q2KB43</li><li>Q1MJU4</li><li>Q5HL11</li><li>Q8NUM0</li><li>Q4L9D7</li><li>P54223</li><li>Q7MF12</li><li>Q6FDF9</li><li>P17444</li><li>Q3BXK8</li><li>Q4ZM63</li><li>Q63KK7</li><li>Q8ZGW0</li><li>Q48CM7</li><li>Q88CW6</li><li>Q66D54</li><li>Q8CMY2</li><li>Q8X6C6</li><li>Q1CFR7</li><li>Q4UYN5</li><li>Q8BJ64</li><li>Q8D3K2</li><li>P60336</li><li>Q1BQE2</li><li>P60337</li><li>Q8PPG8</li><li>Q1C932</li><li>Q2FDP9</li><li>Q9X2M2</li><li>Q13NG7</li><li>Q3JLL7</li><li>Q2T6D0</li>		<li>rs7493</li><li>rs12026</li><li>rs17876152</li>	2
Q15166	5446		<li>E->K at 146: in dbSNP:rs17878827</li><li>A->D at 179: in dbSNP:rs17883013</li>									<li>rs17883013</li><li>rs17878827</li>	2
Q15181	5464		<li>K->N at 57: in a breast cancer sample; somatic mutation</li>										2
Q15198	5157		<li>H->Y at 23: in CRC; somatic mutation, MIM: 114500</li>							<li>Q8L925</li><li>P16960</li>	Colorectal cancer (CRC) [MIM:114500]		2
Q15238	5673		<li>K->N at 154: in dbSNP:rs1058259</li>									rs1058259	2
Q15256	5801		<li>K->R at 314: in dbSNP:rs3803036</li>									rs3803036	2
Q15257	5524		<li>K->R at 28: in dbSNP:rs17481693</li><li>R->Q at 208: in dbSNP:rs4836639</li><li>S->L at 357: in dbSNP:rs2480452</li>									<li>rs2480452</li><li>rs4836639</li><li>rs17481693</li>	2
Q15269	5822		<li>D->N at 25: in dbSNP:rs2020945</li><li>E->K at 174: in dbSNP:rs35001460</li><li>F->I at 551: in dbSNP:rs17856422</li>									<li>rs2020945</li><li>rs35001460</li><li>rs17856422</li>	2
Q15274	23475		<li>A->V at 158: in dbSNP:rs2303255</li><li>A->T at 195: in dbSNP:rs9932770</li>									<li>rs2303255</li><li>rs9932770</li>	2
Q15276	9135		<li>E->G at 640: in dbSNP:rs3026099</li>									rs3026099	2
Q15293	5954		<li>T->N at 71: in dbSNP:rs1061145</li><li>D->Y at 73: in dbSNP:rs1804281</li><li>Q->E at 74: in dbSNP:rs1061143</li><li>F->L at 117: in a colorectal cancer sample; somatic mutation</li><li>R->P at 188: in dbSNP:rs1061080</li>									<li>rs1061080</li><li>rs1804281</li><li>rs1061143</li><li>rs1061145</li>	2
Q15311	10928		<li>A->V at 617: in dbSNP:rs35867116</li>									rs35867116	2
Q15319	5459		<li>L->P at 223: in DFNA15; whereas wild-type protein is located in the nucleus part of the mutant protein is also present in the cytoplasm; mutant protein shows greatly reduced capability for binding to DNA as well as transcriptionally activating reporter gene expression, MIM: 602459</li><li>L->F at 289: in DFNA15; whereas wild-type protein is located in the nucleus part of the mutant protein is also present in the cytoplasm; mutant protein shows greatly reduced capability for binding to DNA as well as transcriptionally activating reporter gene expression, MIM: 602459</li>			binding	GO:0005488	<li>cytoplasm</li><li>nucleus</li>	<li>GO:0005737</li><li>GO:0005634</li>		Non-syndromic sensorineural deafness autosomal dominant type 15 (DFNA15) [MIM:602459]		2
Q15323	3881		<li>A->G at 39: in dbSNP:rs6503628</li><li>A->V at 82: in dbSNP:rs6503627</li><li>A->V at 377: in dbSNP:rs34293483</li>									<li>rs6503627</li><li>rs6503628</li><li>rs34293483</li>	2
Q15327	27063		<li>T->M at 116: in TAPVR, MIM: 106700</li>								Total anomalous pulmonary venous return (TAPVR) [MIM:106700]		2
Q15329	1875		<li>G->A at 18: in dbSNP rsrs4150841</li>									rs4150841	2
Q15345	10489		<li>V->I at 609: in dbSNP:rs11542623</li>									rs11542623	2
Q15349	6196		<li>E->K at 311: in a metastatic melanoma sample; somatic mutation</li><li>R->Q at 732: in a colorectal adenocarcinoma sample; somatic mutation</li>										2
Q15361	7270		<li>E->K at 35: in dbSNP:rs11550314</li><li>A->S at 290: in dbSNP:rs8999</li><li>V->A at 303: in dbSNP:rs3739914</li><li>G->V at 360: in dbSNP:rs3739915</li><li>R->Q at 401: in dbSNP:rs3739916</li><li>E->K at 473: in dbSNP:rs12336746</li>									<li>rs12336746</li><li>rs11550314</li><li>rs8999</li><li>rs3739915</li><li>rs3739916</li><li>rs3739914</li>	2
Q15375	2045		<li>I->V at 138: in dbSNP:rs2278107</li><li>E->K at 170: in a colorectal adenocarcinoma sample; somatic mutation</li><li>G->R at 232: in a metastatic melanoma sample; somatic mutation</li><li>P->S at 278: in dbSNP:rs2278106</li><li>R->W at 371: in a colorectal cancer sample; somatic mutation</li><li>P->S at 903: in a metastatic melanoma sample; somatic mutation</li>									<li>rs2278107</li><li>rs2278106</li>	2
Q15382	6009		<li>E->K at 139: in a colorectal cancer sample; somatic mutation</li>										2
Q15388	9804		<li>P->L at 117: in dbSNP:rs16991984</li><li>V->L at 134: in dbSNP:rs1049510</li>									<li>rs1049510</li><li>rs16991984</li>	2
Q15389	284		<li>Missing  at 269: in cell line T98G; may be due to exon slippage</li>										2
Q15391	9934		<li>L->P at 140: in a colorectal cancer sample; somatic mutation</li>										2
Q15392	1718		<li>E->K at 191: in desmosterolosis: in dbSNP rsrs28939093, MIM: 602398</li><li>N->T at 294: in desmosterolosis, MIM: 602398</li><li>K->N at 306: in desmosterolosis, MIM: 602398</li><li>Y->S at 471: in desmosterolosis: in dbSNP rsrs28939092, MIM: 602398</li>								Desmosterolosis [MIM:602398]	<li>rs28939093</li><li>rs28939092</li>	2
Q15393	23450		<li>G->R at 908: in dbSNP:rs11551673</li>									rs11551673	2
Q15397	9933		<li>S->N at 13: in dbSNP:rs10968457</li><li>I->V at 264: in dbSNP:rs35869387</li><li>R->P at 289: in allele HA-8P and allele HA-8PL; dbSNP:rs2173904</li><li>V->L at 297: in allele HA-8PL; dbSNP:rs2270891</li><li>T->S at 414: in dbSNP:rs3736390</li><li>R->Q at 480: in dbSNP:rs2270889</li>									<li>rs2270889</li><li>rs35869387</li><li>rs3736390</li><li>rs2270891</li><li>rs10968457</li><li>rs2173904</li>	2
Q15398	9787		<li>G->E at 69: in dbSNP:rs2274271</li>									rs2274271	2
Q15399	7096		<li>R->T at 80: in dbSNP:rs5743611</li><li>H->Y at 118: in dbSNP:rs5743612</li><li>N->S at 248: in dbSNP:rs4833095</li><li>H->L at 305: in dbSNP:rs3923647</li><li>P->L at 315: in dbSNP:rs5743613</li><li>V->G at 587: in dbSNP:rs5743617</li><li>S->I at 602: in dbSNP:rs5743618</li><li>L->R at 631: in dbSNP:rs5743619</li><li>P->L at 733: in dbSNP:rs5743621</li>									<li>rs5743617</li><li>rs5743618</li><li>rs3923647</li><li>rs5743619</li><li>rs4833095</li><li>rs5743613</li><li>rs5743611</li><li>rs5743621</li><li>rs5743612</li>	2
Q15413	6263		<li>S->R at 261</li><li>I->V at 494: in dbSNP rsrs2077268</li><li>C->Y at 693</li><li>V->I at 731: in dbSNP rsrs2229116</li><li>E->G at 1380</li><li>Missing at 2268</li>									<li>rs2229116</li><li>rs2077268</li>	2
Q15418	6195		<li>K->T at 335: in dbSNP:rs2229712</li>									rs2229712	2
Q15431	6847		<li>E->D at 78: in dbSNP:rs12563933</li><li>E->D at 805: in dbSNP:rs1053812</li>									<li>rs1053812</li><li>rs12563933</li>	2
Q15436	10484		<li>L->V at 211: in dbSNP:rs8018720</li><li>F->L at 382: in CLSD; loss of function mutation; cargo proteins retained in the endoplasmic reticulum, MIM: 607812</li>					endoplasmic reticulum	GO:0005783	Q24573	Craniolenticulosutural dysplasia (CLSD) [MIM:607812]	rs8018720	2
Q15437	10483		<li>P->L at 433: in dbSNP:rs17807673</li><li>H->Q at 489: in dbSNP:rs2273526</li>									<li>rs2273526</li><li>rs17807673</li>	2
Q15459	10291		<li>R->W at 511: in a colorectal cancer sample; somatic mutation</li>										2
Q15466	8431		<li>R->W at 57: in early-onset obesity; Japanese population; loss of repressor activity, MIM: 601665</li><li>G->A at 171: in dbSNP:rs6659176, MIM: 601665</li><li>G->E at 189: in early-onset obesity; Japanese population; strong decrease of repressor activity, MIM: 601665</li><li>A->S at 195: in early-onset obesity; Japanese population; slight decrease of repressor activity, MIM: 601665</li><li>R->C at 213: in early-onset obesity; Japanese population; loss of repressor activity, MIM: 601665</li><li>R->H at 216: no effect on repressor activity, MIM: 601665</li>								Early-onset obesity [MIM:601665]	rs6659176	2
Q15468	6491		<li>A->V at 86: in dbSNP:rs3125630</li><li>H->R at 984: in dbSNP:rs13376679</li><li>P->R at 1012</li><li>A->V at 1145: in dbSNP:rs3766317</li>									<li>rs13376679</li><li>rs3125630</li><li>rs3766317</li>	2
Q15475	6495		<li>R->W at 110: in BOS3; crucial for EYA1-SIX1 interaction, MIM: 608389</li><li>Y->C at 129: in BOS3; crucial for EYA1-SIX1 interaction; crucial for SIX1-DNA protein-DNA binding, MIM: 608389</li><li>Missing  at 133: in DFNA23; crucial for EYA1-SIX1 interaction; crucial for SIX1-DNA protein-DNA binding, MIM: 608389</li>			DNA binding	GO:0003677			<li>Q15475</li><li>Q9YHA0</li><li>Q99502</li>	Branchiootic syndrome type 3 (BOS3) [MIM:608389]		2
Q15477	6499		<li>L->V at 183: in a breast cancer sample; somatic mutation</li><li>M->I at 765: in a colorectal cancer sample; somatic mutation</li>										2
Q15485	2220		<li>P->L at 80: in a colorectal cancer sample; somatic mutation</li><li>H->Y at 113: in dbSNP:rs17549179</li><li>G->S at 117: in dbSNP:rs12684476</li><li>T->M at 236: in dbSNP:rs17549193</li><li>A->S at 258: in dbSNP:rs7851696</li>									<li>rs17549179</li><li>rs12684476</li><li>rs7851696</li><li>rs17549193</li>	2
Q15491	3084		<li>G->R at 46: in dbSNP:rs3735774</li><li>A->P at 127: in dbSNP:rs34822181</li>									<li>rs3735774</li><li>rs34822181</li>	2
Q15517	1041		<li>M->L at 18: in dbSNP:rs3095318</li><li>L->F at 56: in allele 1.31 and allele 1.32; dbSNP:rs7742033</li><li>S->N at 143: in dbSNP:rs3130984</li><li>Missing  at 143: in allele 2.11</li><li>G->S at 145: in dbSNP:rs6457328</li><li>S->N at 150: in allele 2.21, allele 2.22 and allele 2.23</li><li>Missing at 153</li><li>S->F at 202: in allele 1.11, allele 1.21, allele 1.31, allele 1.32, allele 1.51, allele 1.52, allele 2.11, allele 2.21, allele 2.22 and allele 2.23; dbSNP:rs707913</li><li>Missing  at 253: in allele 1.32</li><li>S->G at 401: in allele 1.21; dbSNP:rs33941312</li><li>S->A at 408: in allele 1.51; dbSNP:rs1042127</li><li>S->L at 410: in allele 2.11, allele 2.21, allele 2.22 and allele 2.23; dbSNP:rs3132554</li><li>D->N at 527: in allele 2.21, allele 2.22 and allele 2.23; dbSNP:rs3130981</li>									<li>rs3130981</li><li>rs707913</li><li>rs6457328</li><li>rs3095318</li><li>rs3132554</li><li>rs7742033</li><li>rs1042127</li><li>rs33941312</li><li>rs3130984</li>	2
Q15526	6834		<li>N->K at 89: in a breast cancer sample; somatic mutation</li><li>G->E at 124: in LS: in dbSNP rsrs28933402, MIM: 256000</li><li>G->R at 124: in LS, MIM: 256000</li><li>D->H at 202, MIM: 256000</li><li>I->T at 246: in LS, MIM: 256000</li><li>Y->D at 274: in LS, MIM: 256000</li>								Leigh syndrome (LS) [MIM:256000]	rs28933402	2
Q15527	6835		<li>G->S at 213: in dbSNP:rs12763</li>									rs12763	2
Q15542	6877		<li>S->A at 130: in dbSNP:rs10883859</li>									rs10883859	2
Q15544	6882		<li>T->R at 68: in dbSNP:rs15922</li><li>S->F at 155: in dbSNP:rs11537996</li>									<li>rs15922</li><li>rs11537996</li>	2
Q15554	7014		<li>S->G at 413: in dbSNP:rs35874485</li>									rs35874485	2
Q15555	10982		<li>Y->C at 162: in dbSNP:rs11538993</li>									rs11538993	2
Q15561	7004		<li>P->S at 323: in dbSNP:rs11550887</li>									rs11550887	2
Q15569	7016		<li>H->Y at 539: in breast cancer samples; infiltrating ductal carcinoma; somatic mutation</li><li>G->S at 574: in dbSNP:rs55673450</li>									rs55673450	2
Q15572	9013		<li>S->F at 304: in dbSNP:rs4150145</li><li>R->H at 357: in dbSNP:rs4150147</li><li>S->L at 387: in dbSNP:rs4150151</li><li>H->Y at 518: in dbSNP:rs4150165</li><li>P->L at 573: in dbSNP:rs4150170</li><li>L->M at 575: in dbSNP:rs2230129</li><li>A->G at 591: in dbSNP:rs4150172</li><li>G->S at 635: in dbSNP:rs4150173</li><li>T->M at 791: in dbSNP:rs4150175</li><li>P->L at 793: in dbSNP:rs2230131</li><li>R->H at 816: in dbSNP:rs4150176</li>									<li>rs4150173</li><li>rs4150176</li><li>rs2230129</li><li>rs4150175</li><li>rs4150170</li><li>rs4150147</li><li>rs4150172</li><li>rs4150145</li><li>rs2230131</li><li>rs4150151</li><li>rs4150165</li>	2
Q15573	9015		<li>I->M at 98: in dbSNP:rs17163271</li>									rs17163271	2
Q15582	7045		<li>V->I at 113: in granular corneal dystrophy; unclassified form; with centrifuge pattern of opacities</li><li>D->H at 123: in granular corneal dystrophy; unclassified form; Hanoi</li><li>R->C at 124: in CDL1, MIM: 122200</li><li>R->H at 124: in ACD; most common mutation in Japanese, MIM: 607541</li><li>R->L at 124: in CDRB, MIM: 608470</li><li>R->S at 124: in CDGG1; late-onset; mild ocular irritation and reduction in visual acuity, MIM: 121900</li><li>Missing  at 125-126: associated with Leu-124 in atypical granular dystrophy; French granular variant, MIM: 121900</li><li>I->F at 200: in dbSNP rsrs45455404, MIM: 121900</li><li>L->F at 269, MIM: 121900</li><li>R->G at 496: in dbSNP:rs10057190, MIM: 121900</li><li>P->T at 501: in CDL3A, MIM: 608471</li><li>V->D at 505: in CDL1, MIM: 122200</li><li>L->R at 509: in EBMD, MIM: 121820</li><li>L->P at 518: in CDL1, MIM: 122200</li><li>L->R at 518: in CDL1; severe phenotype; delayed age of onset, MIM: 122200</li><li>L->R at 527: in CDL1; late-onset; found also in sporadic cases, MIM: 122200</li><li>T->R at 538: in CDL1; delayed age of onset, MIM: 122200</li><li>V->D at 539: in lattice corneal dystrophy; unclassified form, MIM: 122200</li><li>F->S at 540: in CDL3A, MIM: 608471</li><li>Missing  at 540: in CDRB, MIM: 608471</li><li>N->S at 544: in CDL; late-onset, MIM: 608471</li><li>A->D at 546: in CDL1; associated with Q-551, MIM: 122200</li><li>A->T at 546: in CDL3A, MIM: 608471</li><li>P->Q at 551: in CDL1; associated with D-546, MIM: 122200</li><li>R->Q at 555: in CDTB; originally thought to cause CDRB, MIM: 602082</li><li>R->W at 555: in CDGG1; common mutation in Europe and United States; rare in Japan, MIM: 121900</li><li>L->R at 569: in CDL1, MIM: 122200</li><li>H->R at 572: in CDL1; late-onset, MIM: 122200</li><li>Missing  at 572: in CDL1; late-onset and unilateral phenotype, MIM: 122200</li><li>G->V at 594: in lattice corneal dystrophy; unclassified form, MIM: 122200</li><li>N->H at 622: in asymmetric lattice corneal dystrophy, MIM: 122200</li><li>N->K at 622: in CDL3A, MIM: 608471</li><li>G->D at 623: in CDL1; delayed age of onset, MIM: 122200</li><li>Missing  at 624-625: in lattice corneal dystrophy; unclassified form, MIM: 122200</li><li>H->P at 626: in CDL1, MIM: 122200</li><li>H->R at 626: in CDL1; delayed age of onset, MIM: 122200</li><li>V->D at 631: in CDL, MIM: 122200</li><li>R->S at 666: in EBMD; low penetrance in one family, MIM: 121820</li>							<li>Q8Z6A7</li><li>Q46669</li><li>Q96AP0</li>	<li>Corneal dystrophy Groenouw type 1 (CDGG1) [MIM:121900]</li><li>Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]</li><li>Corneal dystrophy Thiel-Behnke type (CDTB) [MIM:602082]</li><li>Epithelial basement membrane corneal dystrophy (EBMD) [MIM:121820]</li><li>Lattice corneal dystrophy type 3A (CDL3A) [MIM:608471]</li><li>Reis-Buecklers corneal dystrophy (CDRB) [MIM:608470]</li><li>Avellino corneal dystrophy (ACD) [MIM:607541]</li>	<li>rs45455404</li><li>rs10057190</li>	2
Q15583	7050		<li>S->C at 157: in HPE4, MIM: 142946</li><li>P->R at 192: in HPE4, MIM: 142946</li><li>Q->L at 236: in HPE4: in dbSNP rsrs28939693, MIM: 142946</li><li>T->A at 280: in HPE4, MIM: 142946</li><li>P->S at 289: in dbSNP:rs11571512, MIM: 142946</li><li>S->F at 291: in HPE4, MIM: 142946</li><li>P->L at 292: in dbSNP:rs2229333, MIM: 142946</li>								Holoprosencephaly type 4 (HPE4) [MIM:142946]	<li>rs2229333</li><li>rs11571512</li><li>rs28939693</li>	2
Q155Q3	85458		<li>K->R at 300: in dbSNP:rs34575249</li>									rs34575249	2
Q15612	158131		<li>Q->R at 24: in dbSNP:rs972925</li><li>I->M at 163: in dbSNP:rs1329957</li><li>T->A at 240: in dbSNP:rs727913</li>									<li>rs727913</li><li>rs1329957</li><li>rs972925</li>	2
Q15617	26494		<li>A->V at 247: in dbSNP:rs4482039</li>									rs4482039	2
Q15619	26188		<li>T->M at 209: in dbSNP:rs12068080</li>									rs12068080	2
Q15633	6895		<li>S->F at 251: in dbSNP:rs1126500</li>									rs1126500	2
Q15643	9321		<li>T->I at 1846</li>										2
Q15646	8638		<li>N->I at 341: in dbSNP:rs35249920</li>									rs35249920	2
Q15652	221037		<li>A->T at 272: in dbSNP:rs34798625</li><li>E->D at 394: in dbSNP:rs35380596</li><li>S->T at 464: in dbSNP:rs10761725</li><li>N->Y at 1393: in dbSNP:rs9703886</li><li>D->E at 2400: in dbSNP:rs34491125</li><li>E->D at 2535: in dbSNP:rs1935</li>									<li>rs34798625</li><li>rs9703886</li><li>rs34491125</li><li>rs1935</li><li>rs35380596</li><li>rs10761725</li>	2
Q15654	7205		<li>V->I at 230: in dbSNP:rs2075756</li><li>L->F at 296: in dbSNP rsrs17855370</li>									<li>rs2075756</li><li>rs17855370</li>	2
Q15661	7177		<li>A->V at 18: in dbSNP:rs1800984</li><li>G->V at 23: in dbSNP:rs1141965</li><li>A->T at 85: in dbSNP:rs1141968</li><li>N->K at 132: in dbSNP:rs1800991</li><li>H->R at 136: in dbSNP:rs1064780</li><li>T->A at 141: in dbSNP:rs1800992</li><li>D->N at 162: in dbSNP:rs2234641</li><li>P->S at 170: in dbSNP:rs2234904</li><li>T->S at 215: in dbSNP:rs2234905</li><li>R->Q at 216: in dbSNP:rs2234906</li>									<li>rs1141965</li><li>rs1800984</li><li>rs1800992</li><li>rs1064780</li><li>rs2234641</li><li>rs1800991</li><li>rs1141968</li><li>rs2234904</li><li>rs2234906</li><li>rs2234905</li>	2
Q15672	7291		<li>S->G at 31: in dbSNP:rs1800126</li><li>G->S at 84: in dbSNP:rs2234705</li><li>Q->P at 119: in SCS, MIM: 101400</li><li>L->P at 131: in SCS, MIM: 101400</li><li>I->IAALRKII at 135: in SCS, MIM: 101400</li><li>P->PKIIPTLP at 139: in SCS, MIM: 101400</li><li>I->V at 156: in SCS; variant form with features overlapping Baller-Gerold syndrome, MIM: 101400</li><li>A->T at 186: in CRS1, MIM: 123100</li><li>S->L at 188: in CRS1, MIM: 123100</li>							O81191	<li>Saethre-Chotzen syndrome (SCS) [MIM:101400]</li><li>Craniosynostosis type 1 (CRS1) [MIM:123100]</li>	<li>rs2234705</li><li>rs1800126</li>	2
Q15678	5784		<li>Q->E at 159: in a breast cancer sample; somatic mutation</li><li>H->P at 360: in a breast cancer sample; somatic mutation</li><li>V->F at 505: in dbSNP:rs12239356</li>									rs12239356	2
Q15695			<li>S->G at 155: in dbSNP:rs712665</li><li>S->N at 444: in dbSNP:rs430665</li>									<li>rs430665</li><li>rs712665</li>	2
Q15726	3814		<li>E->K at 20: in dbSNP:rs12998</li><li>Q->R at 36: in dbSNP rsrs35431622</li><li>P->R at 81: in dbSNP:rs4889</li>									<li>rs35431622</li><li>rs12998</li><li>rs4889</li>	2
Q15735			<li>S->I at 333: in dbSNP:rs12485025</li>									rs12485025	2
Q15738	50814		<li>A->V at 105: in CHILD, MIM: 308050</li><li>G->S at 205: in CHILD: in dbSNP rsrs28935175, MIM: 308050</li>								Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]	rs28935175	2
Q15746	4638		<li>V->A at 261: in dbSNP rsrs3796164</li><li>T->A at 276: in dbSNP rsrs55846245</li><li>R->H at 378: in dbSNP rsrs56378658</li><li>M->V at 405: in dbSNP rsrs35436690</li><li>P->S at 443: in dbSNP rsrs35156360</li><li>R->G at 607</li><li>P->A at 652</li><li>W->C at 656</li><li>T->M at 692</li><li>A->T at 701</li><li>V->M at 709</li><li>L->P at 861: in dbSNP:rs3732486</li><li>D->E at 914: in dbSNP:rs3732487</li><li>A->V at 1527: in dbSNP rsrs34982967</li><li>P->L at 1588: in an ovarian mucinous carcinoma sample; somatic mutation</li>									<li>rs56378658</li><li>rs35436690</li><li>rs3796164</li><li>rs34982967</li><li>rs3732487</li><li>rs3732486</li><li>rs55846245</li><li>rs35156360</li>	2
Q15751	8925		<li>L->F at 1088: in dbSNP:rs1063423</li><li>L->F at 1278: in dbSNP:rs3764187</li><li>G->V at 1411: in dbSNP:rs36089909</li><li>H->N at 1447: in dbSNP:rs7162519</li><li>S->A at 1572: in dbSNP:rs16947363</li><li>A->G at 1696: in dbSNP:rs2255243</li><li>T->A at 1995: in dbSNP:rs2228512</li><li>V->I at 2220: in dbSNP:rs2228510</li><li>A->T at 2816: in dbSNP:rs35122568</li><li>S->F at 3152: in dbSNP:rs2228513</li><li>G->R at 3517: in dbSNP:rs7182782</li><li>D->E at 3722: in dbSNP:rs2229749</li>									<li>rs36089909</li><li>rs16947363</li><li>rs2228513</li><li>rs35122568</li><li>rs2228512</li><li>rs2255243</li><li>rs7182782</li><li>rs2228510</li><li>rs7162519</li><li>rs3764187</li><li>rs2229749</li><li>rs1063423</li>	2
Q15758	6510		<li>P->A at 17: in dbSNP:rs3027956</li><li>V->L at 512: in dbSNP:rs3027961</li>									<li>rs3027961</li><li>rs3027956</li>	2
Q15760	2842		<li>I->V at 189: in dbSNP:rs4763862</li>									rs4763862	2
Q15762	10666		<li>G->S at 307: in dbSNP:rs763361</li>									rs763361	2
Q15772	10290		<li>R->H at 206: in dbSNP rsrs55821435</li><li>R->C at 934: in dbSNP rsrs34398769</li><li>R->Q at 966: in dbSNP rsrs34861443</li><li>P->L at 1103: in dbSNP rsrs56334571</li><li>A->V at 1135: in dbSNP rsrs55670811</li><li>E->D at 1178: in a gastric adenocarcinoma sample; somatic mutation</li><li>R->W at 1234: in dbSNP rsrs55916864</li><li>R->Q at 1340: in dbSNP rsrs34994343</li><li>R->C at 1621: in dbSNP rsrs55646900</li><li>R->W at 1903: in an ovarian mucinous carcinoma sample; somatic mutation</li><li>P->T at 2687: in dbSNP rsrs13026308</li><li>V->M at 2742: in a gastric adenocarcinoma sample; somatic mutation</li><li>H->R at 3079: in dbSNP rsrs12464085</li>									<li>rs56334571</li><li>rs13026308</li><li>rs55646900</li><li>rs34861443</li><li>rs55821435</li><li>rs55670811</li><li>rs34398769</li><li>rs55916864</li><li>rs12464085</li><li>rs34994343</li>	2
Q15773	8079		<li>F->C at 80: in a colorectal cancer sample; somatic mutation</li>										2
Q15776	7745		<li>P->L at 163</li>										2
Q15777	744		<li>H->R at 67: in dbSNP:rs11556749</li>									rs11556749	2
Q15782	1117		<li>A->V at 182: in dbSNP:rs11556868</li><li>V->I at 184: in dbSNP:rs34049547</li>									<li>rs34049547</li><li>rs11556868</li>	2
Q15800	6307		<li>N->S at 124: in dbSNP:rs34499452</li>									rs34499452	2
Q15813	6905		<li>Missing  at 52-55: in HRD and KCS1</li><li>V->A at 205: in dbSNP:rs16832611</li><li>S->T at 333: in dbSNP:rs35579976</li><li>E->G at 409: in dbSNP:rs16832619</li>							<li>Q12494</li><li>Q9MAM3</li>		<li>rs16832611</li><li>rs35579976</li><li>rs16832619</li>	2
Q15814	6903		<li>A->V at 65: in dbSNP:rs2234026</li><li>G->D at 157: in dbSNP:rs7742995</li><li>P->S at 169: in dbSNP:rs2234027</li><li>P->S at 180: in dbSNP:rs2234028</li><li>A->T at 279: in dbSNP:rs12175072</li>									<li>rs2234028</li><li>rs7742995</li><li>rs12175072</li><li>rs2234026</li><li>rs2234027</li>	2
Q15819	7336		<li>E->G at 36: in dbSNP:rs11557776</li><li>D->H at 40: in dbSNP:rs14890</li><li>P->Q at 78: in dbSNP:rs11557786</li>									<li>rs11557776</li><li>rs11557786</li><li>rs14890</li>	2
Q15822	1135		<li>T->I at 22: in dbSNP:rs2472553</li><li>A->T at 125: in dbSNP:rs891398</li><li>I->N at 279: in ENFL4; markedly increases receptor sensitivity to acetylcholine, MIM: 610353</li>								Nocturnal frontal lobe epilepsy type 4 (ENFL4) [MIM:610353]	<li>rs891398</li><li>rs2472553</li>	2
Q15825	8973		<li>N->S at 447: in dbSNP:rs16891583</li>									rs16891583	2
Q15833			<li>V->I at 526: in dbSNP:rs6791</li>									rs6791	2
Q15835	6011		<li>E->Q at 136: in one patient with autosomal dominant retinitis pigmentosa; probably not pathogenic</li><li>T->M at 298: in patients with autosomal recessive retinitis pigmentosa; unclear pathological significance</li><li>N->S at 330: in patients with autosomal dominant retinitis pigmentosa; probably not pathogenic</li><li>V->D at 380: in CSNBO, MIM: 258100</li><li>P->H at 391: in CSNBO, MIM: 258100</li><li>R->H at 438: in one patient with autosomal dominant retinitis pigmentosa; probably not pathogenic, MIM: 258100</li><li>C->S at 514: in one patient with autosomal dominant retinitis pigmentosa; probably not pathogenic, MIM: 258100</li><li>M->T at 522: in patients with autosomal recessive retinitis pigmentosa; unclear pathological significance, MIM: 258100</li><li>S->L at 536: in one patient with autosomal dominant retinitis pigmentosa; probably not pathogenic, MIM: 258100</li>								Congenital stationary night blindness Oguchi type (CSNBO) [MIM:258100]		2
Q15842	3764		<li>V->A at 334: in dbSNP:rs34811413</li>									rs34811413	2
Q15849	8170		<li>A->T at 880: in dbSNP:rs3745009</li>									rs3745009	2
Q15858	6335		<li>S->T at 241: in primary erythermalgia, MIM: 133020</li><li>I->T at 859: in primary erythermalgia; sporadic; activated at more negative potentials; slower inactivation kinetics than wild-type channels, MIM: 133020</li><li>L->H at 869: in primary erythermalgia; activated at more negative potentials; slower inactivation kinetics than wild-type channels, MIM: 133020</li><li>M->L at 932: in dbSNP:rs12478318, MIM: 133020</li><li>R->C at 1007: in PEPD, MIM: 167400</li><li>R->W at 1161: in dbSNP:rs6746030, MIM: 167400</li><li>V->D at 1309: in PEPD, MIM: 167400</li><li>V->F at 1309: in PEPD, MIM: 167400</li><li>V->F at 1310: in PEPD, MIM: 167400</li><li>F->V at 1460: in primary erythermalgia; produces a hyperpolarizing shift in channel activation and a depolarizing shift in steady-state activation, MIM: 133020</li><li>I->T at 1472: in PEPD; reduction in fast inactivation leading to persistent sodium current, MIM: 167400</li><li>F->V at 1473: in PEPD, MIM: 167400</li><li>T->I at 1475: in PEPD; reduction in fast inactivation leading to persistent sodium current, MIM: 167400</li><li>M->K at 1638: in PEPD; reduction in fast inactivation leading to persistent sodium current, MIM: 167400</li><li>D->G at 1919: in dbSNP:rs3750904, MIM: 167400</li>							P12955	<li>Primary erythermalgia [MIM:133020]</li><li>Paroxysmal extreme pain disorder (PEPD) [MIM:167400]</li>	<li>rs3750904</li><li>rs6746030</li><li>rs12478318</li>	2
Q15878	777		<li>D->E at 859: in dbSNP:rs35737760</li><li>A->T at 1955: in dbSNP:rs704326</li>									<li>rs704326</li><li>rs35737760</li>	2
Q15884	9413		<li>T->I at 233: in dbSNP:rs35386391</li><li>R->K at 261: in dbSNP:rs11138396</li>									<li>rs35386391</li><li>rs11138396</li>	2
Q15906	6944		<li>I->V at 318: in a breast cancer sample; somatic mutation</li>										2
Q15911	463		<li>S->A at 72: in dbSNP:rs7193297</li><li>T->P at 428: in dbSNP:rs16971436</li><li>E->Q at 460: in dbSNP:rs2073852</li><li>V->A at 777: in dbSNP:rs4788682</li><li>A->S at 997: in dbSNP:rs2213978</li><li>A->V at 3374</li><li>Missing at 3377-3384</li><li>P->A at 3421: in dbSNP:rs8044440</li><li>G->GGG at 3527</li>									<li>rs16971436</li><li>rs2213978</li><li>rs4788682</li><li>rs8044440</li><li>rs2073852</li><li>rs7193297</li>	2
Q15928	7700		<li>K->E at 124: in dbSNP:rs2229296</li><li>R->K at 349: in dbSNP:rs955417</li><li>K->N at 358: in dbSNP:rs2018645</li>									<li>rs2229296</li><li>rs955417</li><li>rs2018645</li>	2
Q15935	58492		<li>C->S at 3: in dbSNP:rs12610412</li><li>L->W at 20: in dbSNP:rs34603238</li><li>P->S at 179: in dbSNP:rs34705382</li><li>G->R at 460: in dbSNP:rs35411355</li>									<li>rs35411355</li><li>rs12610412</li><li>rs34603238</li><li>rs34705382</li>	2
Q15937	7633		<li>T->I at 31: in dbSNP:rs13292096</li><li>R->G at 51: in dbSNP:rs4504745</li>									<li>rs13292096</li><li>rs4504745</li>	2
Q16082	3316		<li>G->S at 111: in dbSNP:rs4252589</li>									rs4252589	2
Q16099	2900		<li>V->I at 528: in dbSNP:rs35599906</li><li>M->T at 824: in dbSNP:rs9988907</li>									<li>rs9988907</li><li>rs35599906</li>	2
Q16134	2110		<li>V->L at 565: in a colorectal cancer sample; somatic mutation</li>										2
Q16222	6675		<li>P->H at 418: in dbSNP:rs1128539</li>									rs1128539	2
Q16254	1874		<li>T->P at 293: in dbSNP:rs1801013</li><li>S->SSSS at 319</li>									rs1801013	2
Q16270	3490		<li>L->F at 11: in dbSNP:rs11573021</li>									rs11573021	2
Q16280	1260		<li>R->H at 97: in a breast cancer sample; somatic mutation</li><li>D->H at 118: in dbSNP:rs6627455</li><li>R->Q at 399: in a breast cancer sample; somatic mutation</li><li>E->K at 663: in dbSNP:rs714147</li>									<li>rs6627455</li><li>rs714147</li>	2
Q16281	1261		<li>P->L at 48</li><li>T->M at 153: in dbSNP:rs34314205</li><li>D->V at 162: in ACHM2, MIM: 216900</li><li>P->L at 163: in ACHM2, MIM: 216900</li><li>Y->C at 181: in ACHM2, MIM: 216900</li><li>N->Y at 182: in ACHM2, MIM: 216900</li><li>L->F at 186: in ACHM2, MIM: 216900</li><li>C->Y at 191: in ACHM2, MIM: 216900</li><li>E->K at 194: in ACHM2, MIM: 216900</li><li>E->K at 198: in dbSNP:rs2271041, MIM: 216900</li><li>R->W at 223: in ACHM2, MIM: 216900</li><li>T->R at 224: in ACHM2, MIM: 216900</li><li>E->K at 228: in ACHM2; the dose-response relationship for cGMP-activation is not significantly different from that of wild-type CNGA3; the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein; the channel density into the cell membrane is considerably improved by decreasing the cultivation temparature, MIM: 216900</li><li>F->S at 249: in ACHM2, MIM: 216900</li><li>D->N at 260: in ACHM2, MIM: 216900</li><li>Y->D at 263: in ACHM2, MIM: 216900</li><li>G->D at 267: in ACHM2, MIM: 216900</li><li>R->C at 277: in ACHM2, MIM: 216900</li><li>R->H at 277: in ACHM2; does not form functional homomeric or heteromeric channels; cell surface expression levels is significantly reduced, MIM: 216900</li><li>R->Q at 283: in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the dose-response relationship for cGMP-activation is not significantly different from that of wild-type CNGA3; the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein; a substantial reduction of macroscopic cGMP maximum current to only one-third of the mean value for wild-type CNGA3 + CNGB3 is observed for the mutant CNGA3 + CNGB3; the channel density into the cell membrane is considerably improved by decreasing the cultivation temparature, MIM: 216900</li><li>R->W at 283: in ACHM2, MIM: 216900</li><li>T->R at 291: in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the K, MIM: 216900</li><li>Missing  at 312: in ACHM2, MIM: 216900</li><li>S->P at 341: in ACHM2, MIM: 216900</li><li>T->S at 369: in ACHM2, MIM: 216900</li><li>P->S at 372: in ACHM2, MIM: 216900</li><li>F->S at 380: in ACHM2, MIM: 216900</li><li>S->P at 401: in ACHM2, MIM: 216900</li><li>M->T at 406: in ACHM2, MIM: 216900</li><li>R->W at 410: in ACHM2, MIM: 216900</li><li>R->C at 427: in ACHM2, MIM: 216900</li><li>R->W at 436: in ACHM2, MIM: 216900</li><li>R->W at 439: in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration; the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein; coexpression of the CNGB3 subunit compensate completely for the slightly higher apparent cGMP sensitivity of homomers; the channel density into the cell membrane is considerably improved by decreasing the cultivation temparature, MIM: 216900</li><li>A->T at 469: in ACHM2; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration; the left shift in the dose-response relationship of the mutant CNGA3 is less distinctive than in homomeric channels with this mutation indicating a partial rescue effect of the CNGB3 subunit; is in large part located in the cell membrane at 37 and 27 degrees Celsius, MIM: 216900</li><li>N->S at 471: in ACHM2; mutant CNGA3 alone or together with the CNGB3 subunit exhibit an increase in apparent affinity for cGMP and an increase in the relative agonist efficacy of cAMP compared with cGMP; cell surface expression levels is unchanged, MIM: 216900</li><li>D->V at 485: in ACHM2, MIM: 216900</li><li>C->S at 510: in ACHM2, MIM: 216900</li><li>G->E at 513: in ACHM2, MIM: 216900</li><li>G->E at 516: in ACHM2, MIM: 216900</li><li>I->T at 522: in ACHM2, MIM: 216900</li><li>G->D at 525: in ACHM2, MIM: 216900</li><li>V->M at 529: in ACHM2, MIM: 216900</li><li>F->L at 547: in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration; a substantial reduction of macroscopic cGMP maximum current to only one-third of the mean value for wild-type CNGA3 + CNGB3 is observed for the mutant CNGA3 + CNGB3; is in large part located in the cell membrane at 37 and 27 degrees Celsius, MIM: 216900</li><li>G->R at 548: in ACHM2, MIM: 216900</li><li>G->R at 557: in ACHM2; the K, MIM: 216900</li><li>R->H at 563: in ACHM2; mutant CNGA3 alone or together with the CNGB3 subunit exhibit an increase in apparent affinity for cGMP and an increase in the relative agonist efficacy of cAMP compared with cGMP; cell surface expression levels is significantly reduced, MIM: 216900</li><li>T->M at 565: in ACHM2, MIM: 216900</li><li>R->H at 569: in ACHM2, MIM: 216900</li><li>Y->C at 573: in ACHM2, MIM: 216900</li><li>E->K at 590: in ACHM2; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration, MIM: 216900</li><li>E->K at 593: in ACHM2, MIM: 216900</li>					<li>cell membrane</li><li>cell surface</li>	<li>GO:0005886</li><li>GO:0009928,GO:0009986</li>	<li>Q8MJD7</li><li>Q16281</li><li>Q29441</li><li>Q9NQW8</li>	Achromatopsia type 2 (ACHM2) [MIM:216900]	<li>rs2271041</li><li>rs34314205</li>	2
Q16288	4916		<li>T->R at 149: in a gastric adenocarcinoma sample; somatic mutation</li><li>R->C at 306: in dbSNP:rs56386352</li><li>V->L at 307: in a lung adenocarcinoma sample; somatic mutation</li><li>L->Q at 336: in a lung adenocarcinoma sample; somatic mutation</li><li>A->S at 664: in a lung carcinoma sample; somatic mutation</li><li>H->Y at 677: in a lung adenocarcinoma sample; somatic mutation</li><li>R->Q at 678: in dbSNP rsrs55890138</li><li>R->F at 735: in a lung large cell carcinoma sample; somatic mutation; requires 2 nucleotide substitutions</li><li>W->C at 736: in a lung carcinoma sample; somatic mutation</li><li>R->P at 745: in a lung carcinoma sample; somatic mutation</li><li>Y->F at 766: in a lung carcinoma sample; somatic mutation</li><li>K->R at 768: in dbSNP rsrs55770052</li><li>E->K at 781: in dbSNP rsrs56393451</li>									<li>rs56386352</li><li>rs55770052</li><li>rs56393451</li><li>rs55890138</li>	2
Q16322	3744		<li>R->H at 200: in a colorectal cancer sample; somatic mutation</li><li>V->M at 220: in dbSNP:rs34970857</li><li>S->N at 258: in dbSNP:rs3748729</li>									<li>rs34970857</li><li>rs3748729</li>	2
Q16348			<li>R->H at 57: in dbSNP:rs1920305</li><li>Y->C at 73: in dbSNP:rs1143667</li><li>L->F at 350: in dbSNP:rs2257212</li><li>P->S at 409: in dbSNP:rs1143671</li><li>R->K at 509: in dbSNP:rs1143672</li><li>A->G at 609: in dbSNP:rs1143668</li><li>A->P at 609: in dbSNP:rs1143673</li><li>M->L at 704: in dbSNP:rs1920314</li>									<li>rs1920314</li><li>rs1143668</li><li>rs1143667</li><li>rs1143671</li><li>rs1143672</li><li>rs1143673</li><li>rs2257212</li><li>rs1920305</li>	2
Q16352	9118		<li>T->S at 92: in dbSNP:rs1063455</li><li>E->Q at 110: in a breast cancer sample; somatic mutation</li><li>D->H at 149: in dbSNP:rs1063456</li>									<li>rs1063456</li><li>rs1063455</li>	2
Q16363	3910		<li>H->Y at 498: in dbSNP:rs1050348</li><li>S->G at 1117: in dbSNP:rs2032567</li><li>P->R at 1119: in dbSNP:rs1050349</li>									<li>rs2032567</li><li>rs1050348</li><li>rs1050349</li>	2
Q16378	11272		<li>R->Q at 96: in dbSNP:rs1063193</li><li>R->Q at 120: in dbSNP:rs1047699</li>									<li>rs1063193</li><li>rs1047699</li>	2
Q16401	5711		<li>E->G at 21: in dbSNP:rs2297575</li><li>L->H at 72: in dbSNP:rs17282618</li>									<li>rs2297575</li><li>rs17282618</li>	2
Q16445	2559		<li>P->H at 180: in a colorectal cancer sample; somatic mutation</li><li>T->M at 187: in dbSNP:rs3811993</li><li>P->S at 404: in dbSNP:rs34907804</li>									<li>rs3811993</li><li>rs34907804</li>	2
Q16478	2901		<li>V->M at 527: in dbSNP:rs2230298</li>									rs2230298	2
Q16513	5586		<li>E->D at 94: in dbSNP:rs12039846</li><li>A->E at 197: in dbSNP:rs35207128</li><li>Q->R at 655: in dbSNP:rs12085658</li>									<li>rs12039846</li><li>rs12085658</li><li>rs35207128</li>	2
Q16515	40		<li>D->G at 354: in dbSNP:rs16967895</li>									rs16967895	2
Q16518	6121		<li>L->P at 22: in LCA2, MIM: 204100</li><li>G->S at 40: in LCA2, MIM: 204100</li><li>R->Q at 44: in LCA2, MIM: 204100</li><li>H->Y at 68: in LCA2, MIM: 204100</li><li>R->Q at 91: in LCA2, MIM: 204100</li><li>R->W at 91: in RP20, MIM: 180069</li><li>A->T at 132: in RP20, MIM: 180069</li><li>Y->D at 144: in LCA2, MIM: 204100</li><li>H->Y at 182: in LCA2, MIM: 204100</li><li>V->F at 287: in LCA2, MIM: 204100</li><li>N->K at 321: in LCA2, MIM: 204100</li><li>L->S at 341: in RP20, MIM: 180069</li><li>P->T at 363: in LCA2, MIM: 204100</li><li>Y->H at 368: in RP20, MIM: 180069</li><li>A->G at 393: in LCA2, MIM: 204100</li><li>E->Q at 417: in LCA2, MIM: 204100</li><li>Y->C at 431: in LCA2, MIM: 204100</li><li>A->V at 434: in dbSNP:rs34627040, MIM: 204100</li><li>V->G at 452: in RP20, MIM: 180069</li><li>R->W at 515: in RP20; this mutation has been found in compound heterozygosity in LCA2, MIM: 180069</li>								<li>Retinitis pigmentosa type 20 (RP20) [MIM:180069]</li><li>Leber congenital amaurosis type 2 (LCA2) [MIM:204100]</li>	rs34627040	2
Q16534	3131		<li>I->F at 253: in fusion protein; decreases DNA-binding activity</li>			DNA-binding	GO:0003677						2
Q16538	27239		<li>R->G at 459: in dbSNP:rs11612427</li>									rs11612427	2
Q16543	11140		<li>G->E at 360: in dbSNP:rs280528</li>									rs280528	2
Q16548	597		<li>C->Y at 19: in dbSNP:rs1138357</li><li>N->K at 39: in dbSNP:rs1138358</li><li>G->D at 82: in dbSNP:rs3826007</li><li>E->D at 117: in dbSNP:rs34080999</li>									<li>rs1138358</li><li>rs34080999</li><li>rs3826007</li><li>rs1138357</li>	2
Q16549	9159		<li>L->V at 688: in dbSNP:rs608620</li><li>S->N at 689: in dbSNP:rs45539233</li><li>R->M at 700: in dbSNP:rs45574931</li><li>H->Y at 708: in dbSNP:rs473131</li><li>R->Q at 711: in dbSNP:rs473093</li>									<li>rs473093</li><li>rs608620</li><li>rs473131</li><li>rs45539233</li><li>rs45574931</li>	2
Q16557	5671		<li>L->S at 23: in dbSNP:rs11559136</li><li>L->P at 30: in dbSNP:rs12185496</li><li>N->T at 198: in dbSNP:rs16976174</li><li>K->N at 199: in dbSNP:rs17173152</li>									<li>rs17173152</li><li>rs12185496</li><li>rs16976174</li><li>rs11559136</li>	2
Q16558	3779		<li>E->K at 65: has a protective effect against diastolic hypertension; dbSNP:rs11739136</li><li>V->L at 110: in dbSNP:rs2301149</li>									<li>rs11739136</li><li>rs2301149</li>	2
Q16568	9607		<li>L->F at 61: in an obese patient</li><li>S->T at 66</li><li>L->M at 113: in dbSNP:rs12517689</li>									rs12517689	2
Q16570	2532		<li>G->D at 42: antigen Fy: in dbSNP rsrs12075</li><li>R->C at 89: antigen Fy: in dbSNP rsrs34599082</li><li>A->T at 100: in dbSNP:rs13962</li><li>L->Q at 203: in dbSNP:rs3027020</li><li>S->F at 326: in dbSNP:rs17851570</li>									<li>rs17851570</li><li>rs3027020</li><li>rs34599082</li><li>rs12075</li><li>rs13962</li>	2
Q16572	6572		<li>R->Q at 11: in dbSNP:rs8187732</li><li>A->P at 13: in dbSNP:rs8187733</li><li>R->W at 29: in dbSNP:rs8187734</li><li>E->A at 520: in dbSNP:rs8187730</li>									<li>rs8187730</li><li>rs8187734</li><li>rs8187733</li><li>rs8187732</li>	2
Q16581	719		<li>V->A at 136: in dbSNP:rs11567806</li>									rs11567806	2
Q16585	6443		<li>Q->E at 11: in DMD-like</li><li>R->C at 91: in LGMD2E, MIM: 604286</li><li>R->L at 91: in LGMD2E: in dbSNP rsrs28936384, MIM: 604286</li><li>R->P at 91: in LGMD2E: in dbSNP rsrs28936384, MIM: 604286</li><li>M->K at 100: in LGMD2E: in dbSNP rsrs28936386, MIM: 604286</li><li>L->R at 108: in LGMD2E, MIM: 604286</li><li>S->F at 114: in LGMD2E or DMD-like, MIM: 604286</li><li>I->F at 119: in LGMD2E, MIM: 604286</li><li>G->D at 139: in DMD-like, MIM: 604286</li><li>T->R at 151: in LGMD2E: in dbSNP rsrs28936383, MIM: 604286</li><li>G->S at 167: in LGMD2E, MIM: 604286</li><li>T->A at 182: in DMD-like, MIM: 604286</li><li>Y->C at 184: in DMD-like, MIM: 604286</li>							<li>P11533</li><li>O97592</li><li>P11532</li><li>Q5GN48</li>	Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286]	<li>rs28936386</li><li>rs28936383</li><li>rs28936384</li>	2
Q16586	6442		<li>P->L at 30: in LGMD2D, MIM: 608099</li><li>L->P at 31: in LGMD2D, MIM: 608099</li><li>R->C at 34: in LGMD2D, MIM: 608099</li><li>R->H at 34: in LGMD2D, MIM: 608099</li><li>Y->H at 62: in LGMD2D, MIM: 608099</li><li>G->E at 68: in LGMD2D, MIM: 608099</li><li>R->W at 74: in LGMD2D, MIM: 608099</li><li>R->C at 77: in LGMD2D; dbSNP:rs28933693, MIM: 608099</li><li>L->P at 89: in LGMD2D, MIM: 608099</li><li>G->R at 91: in LGMD2D, MIM: 608099</li><li>A->V at 93: in LGMD2D, MIM: 608099</li><li>D->G at 97: in LGMD2D, MIM: 608099</li><li>R->C at 98: in LGMD2D, MIM: 608099</li><li>R->H at 98: in LGMD2D, MIM: 608099</li><li>I->T at 103: in LGMD2D, MIM: 608099</li><li>I->T at 124: in LGMD2D, MIM: 608099</li><li>A->APGAQP at 136: in LGMD2D; associated with G-137, MIM: 608099</li><li>E->G at 137: in LGMD2D; associated with P-G-A-Q-P-136 ins; dbSNP:rs28933694, MIM: 608099</li><li>E->K at 137: in LGMD2D, MIM: 608099</li><li>L->F at 158: in LGMD2D, MIM: 608099</li><li>L->P at 173: in LGMD2D, MIM: 608099</li><li>V->A at 175: in LGMD2D, MIM: 608099</li><li>V->I at 196: in LGMD2D, MIM: 608099</li><li>P->H at 205: in LGMD2D, MIM: 608099</li><li>P->Q at 228: in LGMD2D, MIM: 608099</li><li>V->A at 242: in LGMD2D, MIM: 608099</li><li>V->M at 247: in LGMD2D, MIM: 608099</li><li>R->C at 284: in LGMD2D, MIM: 608099</li>								Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	<li>rs28933693</li><li>rs28933694</li>	2
Q16587			<li>E->K at 117</li><li>KL->NF at 622-623</li>										2
Q16589	901		<li>L->V at 4: in dbSNP:rs4150050</li><li>E->G at 28: in dbSNP:rs4150051</li>									<li>rs4150051</li><li>rs4150050</li>	2
Q16594	6880		<li>T->M at 6: in dbSNP:rs4252233</li><li>Q->H at 210: in dbSNP:rs11542580</li>									<li>rs4252233</li><li>rs11542580</li>	2
Q16600	8187		<li>G->A at 172: in dbSNP:rs2230660</li><li>G->C at 209: in dbSNP:rs2230661</li><li>D->E at 266: in dbSNP:rs1128865</li>									<li>rs2230661</li><li>rs2230660</li><li>rs1128865</li>	2
Q16602	10203		<li>N->Y at 8: in dbSNP:rs698577</li><li>F->L at 16: in dbSNP:rs13391909</li><li>R->I at 274: in dbSNP:rs34010553</li>									<li>rs698577</li><li>rs34010553</li><li>rs13391909</li>	2
Q16609	80350		<li>T->M at 91: in dbSNP:rs7749199</li>									rs7749199	2
Q16610	1893		<li>T->M at 130: in dbSNP:rs3737240</li><li>F->I at 167: in LiP, MIM: 247100</li><li>G->S at 415: in dbSNP:rs13294, MIM: 247100</li><li>G->R at 528: in dbSNP:rs1050901, MIM: 247100</li><li>S->F at 535: in dbSNP:rs1050904, MIM: 247100</li>								Lipoid proteinosis (LiP) [MIM:247100]	<li>rs1050901</li><li>rs3737240</li><li>rs13294</li><li>rs1050904</li>	2
Q16612	9315		<li>E->G at 43: in dbSNP:rs11559</li>									rs11559	2
Q16613	15		<li>R->C at 15: in dbSNP:rs34470791</li><li>A->T at 129: in DSPS: in dbSNP rsrs28936679</li>									<li>rs28936679</li><li>rs34470791</li>	2
Q16619	1489		<li>A->T at 92: in dbSNP:rs2234933</li>									rs2234933	2
Q16620	4915		<li>L->F at 138: in a lung adenocarcinoma sample; somatic mutation</li><li>G->R at 309</li><li>N->Y at 338: in dbSNP:rs1047856</li><li>G->V at 545: in dbSNP:rs1075108</li><li>M->I at 697: in a lung carcinoma sample; somatic mutation</li><li>R->G at 699: in a lung carcinoma sample; somatic mutation</li><li>R->C at 718: in a lung carcinoma sample; somatic mutation</li>									<li>rs1075108</li><li>rs1047856</li>	2
Q16627	6358		<li>K->E at 61: in dbSNP:rs16971802</li>									rs16971802	2
Q16633	5450		<li>T->A at 141: in dbSNP rsrs1042750</li><li>Q->R at 194: in dbSNP rsrs1042751</li>									<li>rs1042750</li><li>rs1042751</li>	2
Q16635	6901		<li>R->S at 94: in MGA2, MIM: 302060</li><li>C->R at 118: in INVM, MIM: 302060</li><li>G->R at 197: in INVM, MIM: 302060</li>							P40578	3-methylglutaconic aciduria type 2 (MGA2) [MIM:302060]		2
Q16637	6606		<li>A->G at 2: in SMA2 and SMA3, MIM: 253400</li><li>D->N at 30: in SMA2, MIM: 253550</li><li>D->V at 44: in SMA3, MIM: 253400</li><li>G->R at 95: in SMA3; reduces SMN binding to Sm proteins, MIM: 253400</li><li>A->G at 111: in SMA2; reduces SMN binding to Sm proteins, MIM: 253550</li><li>I->F at 116: in SMA1, MIM: 253300</li><li>Q->E at 136: in SMA1, MIM: 253300</li><li>P->L at 245: in SMA3, MIM: 253400</li><li>S->G at 262: in SMA3, MIM: 253400</li><li>S->I at 262: in SMA3, MIM: 253400</li><li>Y->C at 272: in SMA1, MIM: 253300</li><li>T->I at 274: in SMA2 and SMA3, MIM: 253400</li><li>G->S at 275: in SMA3, MIM: 253400</li><li>G->C at 279: in SMA2 and SMA3, MIM: 253400</li><li>G->V at 279: in SMA1, MIM: 253300</li>			binding	GO:0005488			<li>Q16637</li><li>O02771</li><li>Q15486</li><li>Q02651</li><li>O18870</li><li>P63162</li>	<li>Spinal muscular atrophy autosomal recessive type 1 (SMA1) [MIM:253300]</li><li>Spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550]</li><li>Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400]</li>		2
Q16643	1627		<li>E->K at 278: in a breast cancer sample; somatic mutation</li><li>I->V at 446: in dbSNP:rs2544809</li><li>S->P at 553: in dbSNP:rs28538572</li><li>E->Q at 640: in a breast cancer sample; somatic mutation</li>									<li>rs2544809</li><li>rs28538572</li>	2
Q16647	5740		<li>P->L at 38: in allele CYP8A1*2</li><li>S->R at 118: in allele CYP8A1*3; dbSNP:rs5622</li><li>E->A at 154: in dbSNP:rs5623</li><li>F->L at 171: in dbSNP:rs5624</li><li>R->C at 236: in dbSNP:rs5626</li><li>R->S at 379: in allele CYP8A1*4: in dbSNP rsrs56195291</li><li>P->S at 500: in dbSNP:rs5584</li>							Q16647		<li>rs56195291</li><li>rs5623</li><li>rs5622</li><li>rs5584</li><li>rs5624</li><li>rs5626</li>	2
Q16650	10716		<li>H->Q at 289: in dbSNP:rs12994035</li>									rs12994035	2
Q16654	5166		<li>A->V at 17: in dbSNP rsrs56391840</li><li>L->M at 19: in dbSNP rsrs55761955</li><li>D->G at 109: in dbSNP:rs34898343</li>									<li>rs34898343</li><li>rs55761955</li><li>rs56391840</li>	2
Q16659	5597		<li>L->V at 290</li>										2
Q16661	2981		<li>P->T at 11: in dbSNP:rs2297567</li>									rs2297567	2
Q16663	6359		<li>I->T at 24: in dbSNP:rs854625</li>									rs854625	2
Q16666	3428		<li>D->H at 103: in dbSNP:rs1057018</li><li>S->T at 179: in dbSNP:rs866484</li><li>K->E at 202: in dbSNP:rs11585341</li><li>R->S at 409: in dbSNP:rs1057027</li><li>Y->N at 413: in dbSNP:rs1057028</li><li>T->S at 723: in dbSNP:rs6940</li>									<li>rs11585341</li><li>rs866484</li><li>rs6940</li><li>rs1057027</li><li>rs1057028</li><li>rs1057018</li>	2
Q16667	1033		<li>W->R at 31: in HCC; patient BX-01, MIM: 114550</li><li>F->L at 78: in HCC; patient T9, MIM: 114550</li><li>C->Y at 79: in HCC; patient BX-01, MIM: 114550</li><li>N->K at 91: in HCC; patient BX-10, MIM: 114550</li><li>D->V at 94: in HCC; patient NT1, MIM: 114550</li><li>L->F at 95: in HCC; patient BX-05, MIM: 114550</li><li>I->V at 108: in HCC; patient T9, MIM: 114550</li><li>S->F at 159: in dbSNP:rs1803843, MIM: 114550</li><li>N->S at 187: in HCC; patient NT4, MIM: 114550</li><li>K->I at 195: in HCC; patient NT4, MIM: 114550</li>							<li>P24727</li><li>P34131</li><li>P34130</li><li>P25436</li><li>Q8T115</li><li>P60771</li><li>Q9NFL6</li>	Patients with hepatocellular carcinoma (HCC) [MIM:114550]	rs1803843	2
Q16670	7741		<li>R->S at 220: in dbSNP:rs17851075</li>									rs17851075	2
Q16671	269		<li>R->C at 54: in PMDS-2, MIM: 261550</li><li>G->V at 142: in PMDS-2, MIM: 261550</li><li>H->Q at 282: in PMDS-2, MIM: 261550</li><li>R->Q at 406: in PMDS-2, MIM: 261550</li><li>D->G at 426: in PMDS-2, MIM: 261550</li><li>Missing  at 444-452: in PMDS-2, MIM: 261550</li><li>V->A at 458: in PMDS-2, MIM: 261550</li><li>D->H at 491: in PMDS-2, MIM: 261550</li><li>R->C at 504: in PMDS-2, MIM: 261550</li>								Persistent Muellerian duct syndrome type 2 (PMDS-2) [MIM:261550]		2
Q16678	1545		<li>S->W at 28: in POAG, MIM: 137760</li><li>R->G at 48: in allele CYP1B1*2, allele CYP1B1*5, allele CYP1B1*6 and allele CYP1B1*7; dbSNP:rs10012, MIM: 137760</li><li>P->L at 52, MIM: 137760</li><li>W->C at 57: in POAG; juvenile onset; allele CYP1B1*11, MIM: 137760</li><li>G->E at 61: in GLC3A and POAG; allele CYP1B1*12; reduces enzymatic activity; dbSNP:rs28936700, MIM: 137760</li><li>Q->R at 68: in dbSNP:rs9282670, MIM: 137760</li><li>L->P at 77: in GLC3A, MIM: 231300</li><li>Y->N at 81: in POAG; adult-onset; hypomorphic allele; reduces the abundance of the enzyme; dbSNP:rs9282671, MIM: 137760</li><li>A->P at 115: in GLC3A, MIM: 231300</li><li>A->S at 119: in allele CYP1B1*2, allele CYP1B1*6 and allele CYP1B1*7; significantly associated with breast or lung cancer; no significant change in 17beta-estradiol 2- and 4-hydroxylation activities and 17beta-estradiol affinity; 1.5-fold reduction in testosterone affinity but nearly no change in testosterone 6beta-hydroxylation activity; 2-fold increase in progesterone 6beta- and 16alpha-hydroxylation activities and 5-fold reduction in progesterone affinity; dbSNP:rs1056827, MIM: 231300</li><li>M->R at 132: in GLC3A, MIM: 231300</li><li>Q->H at 144, MIM: 231300</li><li>Q->P at 144: in GLC3A, MIM: 231300</li><li>Q->R at 144: in GLC3A, MIM: 231300</li><li>R->W at 145: in POAG, MIM: 137760</li><li>G->S at 184, MIM: 137760</li><li>A->P at 189: associated with ocular hypertension susceptibility, MIM: 137760</li><li>D->V at 192: in GLC3A, MIM: 231300</li><li>P->L at 193: in GLC3A, MIM: 231300</li><li>V->I at 198: in GLC3A; dbSNP:rs59472972, MIM: 231300</li><li>N->S at 203: in GLC3A; reduces enzymatic activity, MIM: 231300</li><li>S->N at 206: in dbSNP:rs9341248, MIM: 231300</li><li>S->I at 215: in GLC3A, MIM: 231300</li><li>E->K at 229: in GLC3A and POAG; juvenile-onset; hypomorphic allele; reduces the abundance of the enzyme; dbSNP:rs57865060, MIM: 137760</li><li>G->R at 232: in GLC3A and POAG; adult-onset, MIM: 137760</li><li>S->R at 239: in GLC3A, MIM: 231300</li><li>R->L at 266: in dbSNP:rs9341250, MIM: 231300</li><li>Missing  at 269-271: in GLC3A and POAG, MIM: 231300</li><li>V->L at 320: in GLC3A, MIM: 231300</li><li>A->F at 330: in GLC3A; requires 2 nucleotide substitutions; uncertain pathogenicity, MIM: 231300</li><li>A->S at 330: associated with ocular hypertension susceptibility, MIM: 231300</li><li>Missing  at 343: in GLC3A; reduces enzymatic activity and also the abundance of the enzyme, MIM: 231300</li><li>L->F at 345: in POAG, MIM: 137760</li><li>Missing  at 355-358: in GLC3A, MIM: 137760</li><li>V->M at 364: in GLC3A, MIM: 231300</li><li>G->W at 365: in GLC3A; allele CYP1B1*18; dbSNP:rs55771538, MIM: 231300</li><li>R->H at 368: in GLC3A and glaucoma; digenic early-onset; this mutation may act as a modifier of MYOC mutant phenotype: in dbSNP rsrs28936414, MIM: 231300</li><li>D->N at 374: in GLC3A: in dbSNP rsrs28936413, MIM: 231300</li><li>P->L at 379: in allele CYP1B1*19; dbSNP:rs56305281, MIM: 231300</li><li>E->K at 387: in GLC3A and POAG; allele CYP1B1*20; dbSNP:rs55989760, MIM: 137760</li><li>A->T at 388: in GLC3A, MIM: 231300</li><li>R->C at 390: in GLC3A, MIM: 231300</li><li>R->H at 390: in GLC3A; allele CYP1B1*21: in dbSNP rsrs56010818, MIM: 231300</li><li>R->S at 390: in GLC3A, MIM: 231300</li><li>I->S at 399: in GLC3A, MIM: 231300</li><li>V->F at 409: in POAG, MIM: 137760</li><li>V->G at 422, MIM: 137760</li><li>N->Y at 423: in GLC3A and POAG; juvenile-onset, MIM: 137760</li><li>L->V at 432: in allele CYP1B1*3, allele CYP1B1*5, allele CYP1B1*6 and allele CYP1B1*7; 1.6-fold increase in 17beta-estradiol 4-hydroxylation activity but no change in 17beta-estradiol 2-hydroxylation activity; 2-fold reduction in testosterone 6beta-hydroxylation activity and 3-fold reduction in testosterone affinity; 6-fold and 4-fold increase in progesterone 6beta- and 16alpha-hydroxylation activity, respectively and 7-fold reduction in progesterone affinity; dbSNP:rs1056836, MIM: 137760</li><li>P->L at 437: in GLC3A; allele CYP1B1*23; dbSNP:rs56175199, MIM: 231300</li><li>D->H at 441: in dbSNP:rs4986887, MIM: 231300</li><li>A->G at 443: in GLC3A and POAG; allele CYP1B1*7; unproven pathogenicity; dbSNP:rs4986888, MIM: 137760</li><li>R->Q at 444: in GLC3A, MIM: 231300</li><li>F->C at 445: in GLC3A, MIM: 231300</li><li>D->E at 449: in dbSNP:rs1056837, MIM: 231300</li><li>N->S at 453: in allele CYP1B1*4; dbSNP:rs1800440, MIM: 231300</li><li>G->D at 466: in GLC3A, MIM: 231300</li><li>R->W at 469: in GLC3A; allele CYP1B1*25; dbSNP:rs28936701, MIM: 231300</li><li>E->G at 499: in GLC3A, MIM: 231300</li><li>S->L at 515: in POAG; uncertain pathogenicity, MIM: 137760</li><li>V->A at 518, MIM: 137760</li><li>R->T at 523: in POAG; juvenile-onset, MIM: 137760</li><li>D->G at 530: in POAG, MIM: 137760</li>							<li>Q99972</li><li>Q2PT31</li><li>Q9XTA3</li><li>Q863A3</li><li>Q866N2</li><li>Q16678</li><li>Q594P2</li>	<li>Primary open angle glaucoma (POAG) [MIM:137760]</li><li>Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]</li>	<li>rs59472972</li><li>rs56305281</li><li>rs28936414</li><li>rs28936413</li><li>rs56175199</li><li>rs57865060</li><li>rs9282671</li><li>rs9282670</li><li>rs1800440</li><li>rs55771538</li><li>rs9341250</li><li>rs1056827</li><li>rs4986888</li><li>rs55989760</li><li>rs1056836</li><li>rs1056837</li><li>rs56010818</li><li>rs28936701</li><li>rs4986887</li><li>rs10012</li><li>rs28936700</li><li>rs9341248</li>	2
Q16690	1847		<li>E->D at 154: in dbSNP:rs2282238</li><li>P->L at 322: in dbSNP:rs35101549</li>									<li>rs35101549</li><li>rs2282238</li>	2
Q16696	1553		<li>R->Q at 25: in allele CYP2A13*2: in dbSNP rsrs8192784</li><li>R->Q at 101: in allele CYP2A13*4</li><li>T->TT at 134: in allele CYP2A13*3</li><li>D->E at 158: in allele CYP2A13*3 and allele CYP2A13*8</li><li>R->C at 257: in allele CYP2A13*2; dbSNP:rs8192789</li><li>V->L at 323: in allele CYP2A13*9</li><li>F->Y at 453: in allele CYP2A13*5</li><li>R->C at 494: in allele CYP2A13*6</li>							Q16696		<li>rs8192784</li><li>rs8192789</li>	2
Q16698	1666		<li>K->N at 333: in dbSNP:rs15094</li>									rs15094	2
Q16719	8942		<li>R->Q at 188: in dbSNP:rs2304705</li><li>T->A at 198: in hydroxykynureninuria, MIM: 236800</li><li>K->E at 412: in dbSNP:rs9013, MIM: 236800</li>								Hydroxykynureninuria [MIM:236800]	<li>rs9013</li><li>rs2304705</li>	2
Q16720	492		<li>I->M at 198: in dbSNP:rs2269409</li>									rs2269409	2
Q16762	7263		<li>E->D at 102: in dbSNP:rs35156365</li><li>E->G at 228: in dbSNP:rs1049270</li>									<li>rs1049270</li><li>rs35156365</li>	2
Q16772	2940		<li>I->L at 71: in dbSNP:rs1052661</li><li>N->D at 73: in dbSNP:rs41273858</li>									<li>rs41273858</li><li>rs1052661</li>	2
Q16787	3909		<li>T->N at 796: in dbSNP:rs17187262</li><li>V->A at 1206: in dbSNP:rs12457323</li><li>P->T at 1208: in dbSNP:rs17202961</li><li>T->A at 2702: in dbSNP:rs9952370</li><li>N->K at 2815: in dbSNP:rs1154232</li>									<li>rs17202961</li><li>rs1154232</li><li>rs9952370</li><li>rs17187262</li><li>rs12457323</li>	2
Q16790	768		<li>V->M at 33: in dbSNP:rs2071676</li><li>Q->R at 326: in dbSNP:rs3829078</li>									<li>rs3829078</li><li>rs2071676</li>	2
Q16798	10873		<li>S->G at 85: in dbSNP:rs17856661</li><li>K->N at 324: in dbSNP:rs1042780</li>									<li>rs17856661</li><li>rs1042780</li>	2
Q16799	6252		<li>G->E at 247: in dbSNP:rs35645652</li><li>I->V at 357: in dbSNP:rs35707243</li>									<li>rs35707243</li><li>rs35645652</li>	2
Q16816	5260		<li>V->M at 48: in a colorectal adenocarcinoma sample; somatic mutation</li><li>R->C at 323</li>										2
Q16819	4224		<li>V->L at 469: in dbSNP:rs2274658</li><li>R->G at 476: in dbSNP:rs12197930</li><li>T->S at 606: in dbSNP:rs2297020</li><li>M->V at 634: in dbSNP:rs2297019</li><li>T->M at 726: in dbSNP:rs1804211</li>									<li>rs2274658</li><li>rs1804211</li><li>rs12197930</li><li>rs2297019</li><li>rs2297020</li>	2
Q16821	5506		<li>G->S at 45: in dbSNP:rs8192687</li><li>C->Y at 231: in dbSNP:rs7801819</li><li>M->V at 451: in dbSNP:rs2974942</li><li>K->N at 476: in dbSNP:rs2974944</li><li>G->A at 554: in a breast cancer sample; somatic mutation</li><li>E->K at 748: in dbSNP:rs4304271</li><li>H->L at 882: in dbSNP:rs2974938</li><li>R->S at 883: in dbSNP:rs1800000</li><li>D->Y at 905: in insulin resistance; dbSNP:rs1799999</li><li>A->E at 931: in NIDDM: in dbSNP rsrs35449651, MIM: 125853</li>							<li>P67974</li><li>P67973</li><li>P67971</li><li>P69048</li><li>P01330</li><li>P0C236</li><li>P69047</li><li>P07453</li><li>P42633</li><li>P01324</li><li>P68243</li><li>P01320</li><li>P68992</li><li>P81423</li><li>P01328</li><li>Q9TQY7</li><li>P01340</li><li>P68990</li><li>P67969</li><li>P68991</li><li>P67968</li><li>P68245</li><li>P81881</li><li>P69046</li><li>P01336</li><li>P68988</li><li>P68987</li><li>P01334</li><li>P01316</li><li>P13190</li><li>P01331</li><li>P01314</li><li>P01319</li><li>P09477</li><li>P09476</li><li>P12703</li><li>P29335</li><li>P12704</li><li>P18109</li><li>P68989</li><li>P12708</li>	Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	<li>rs2974942</li><li>rs8192687</li><li>rs2974944</li><li>rs35449651</li><li>rs1799999</li><li>rs2974938</li><li>rs4304271</li><li>rs1800000</li><li>rs7801819</li>	2
Q16822	5106		<li>R->Q at 31: in dbSNP:rs2229660</li><li>D->N at 64: in dbSNP:rs10132601</li><li>G->S at 406: in dbSNP:rs17101262</li>									<li>rs2229660</li><li>rs17101262</li><li>rs10132601</li>	2
Q16828	1848		<li>V->L at 114: in dbSNP:rs2279574</li><li>S->A at 144: in dbSNP:rs770087</li><li>N->I at 313: in dbSNP:rs12828557</li>									<li>rs12828557</li><li>rs770087</li><li>rs2279574</li>	2
Q16829	1849		<li>S->N at 184: in dbSNP:rs34821455</li>									rs34821455	2
Q16832	4921		<li>R->S at 105: in a lung large cell carcinoma sample; somatic mutation</li><li>M->I at 441: in dbSNP:rs34722354</li><li>R->C at 478: in dbSNP:rs34869543</li><li>V->F at 543: in dbSNP:rs55973200</li>									<li>rs55973200</li><li>rs34869543</li><li>rs34722354</li>	2
Q16836	3033		<li>A->T at 40: in HADH deficiency, MIM: 231530</li><li>D->E at 57: in HADH deficiency, MIM: 231530</li><li>P->L at 86: in dbSNP:rs4956145, MIM: 231530</li><li>P->L at 258: in HHF4; loss of activity, MIM: 609975</li>							<li>P00348</li><li>P40939</li><li>Q16836</li>	<li>3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]</li><li>Familial hyperinsulinemic hypoglycemia 4 (HHF4) [MIM:609975]</li>	rs4956145	2
Q16849	5798		<li>S->R at 419: in dbSNP:rs35314717</li>									rs35314717	2
Q16850	1595		<li>V->A at 13: in dbSNP:rs2229188</li>									rs2229188	2
Q16853	8639		<li>T->R at 5: in dbSNP:rs33954211</li><li>R->Q at 78: in dbSNP:rs402680</li><li>H->Y at 167: in dbSNP:rs2228470</li><li>V->M at 171: in dbSNP:rs408038</li><li>H->R at 203: in dbSNP:rs630079</li><li>Y->H at 317: in dbSNP:rs438287</li><li>R->Q at 329: in dbSNP:rs2229595</li><li>I->T at 371: in dbSNP:rs35097308</li><li>A->S at 408: in dbSNP rsrs35643019</li><li>R->H at 426: in dbSNP:rs33986943</li><li>R->W at 441: in dbSNP:rs2229596</li><li>A->T at 582: in dbSNP rsrs34987927</li><li>G->S at 700: in dbSNP:rs477207</li><li>A->V at 749: in dbSNP rsrs34012919</li>									<li>rs2229596</li><li>rs477207</li><li>rs35097308</li><li>rs33986943</li><li>rs2229595</li><li>rs34012919</li><li>rs408038</li><li>rs34987927</li><li>rs33954211</li><li>rs438287</li><li>rs35643019</li><li>rs630079</li><li>rs402680</li><li>rs2228470</li>	2
Q16854	1716		<li>R->K at 142: in MDS, MIM: 251880</li><li>E->K at 227: in MDS, MIM: 251880</li><li>L->S at 250: in MDS; significant reduction of activity, MIM: 251880</li>								Hepatocerebral mitochondrial DNA depletion syndrome (MDS) [MIM:251880]		2
Q16864	9296		<li>G->V at 24: in dbSNP:rs10958</li>									rs10958	2
Q16873	4056		<li>R->Q at 142: in dbSNP:rs11541078</li>									rs11541078	2
Q16877	5210		<li>N->K at 181: in a breast cancer sample; somatic mutation</li>										2
Q16880	7368		<li>P->L at 226: in dbSNP:rs4148254</li><li>M->I at 368: in dbSNP:rs11098261</li>									<li>rs4148254</li><li>rs11098261</li>	2
Q16881	7296		<li>D->G at 365: in dbSNP:rs1127954</li>									rs1127954	2
Q16890	7164		<li>R->K at 62: in dbSNP:rs6905231</li>									rs6905231	2
Q16891	10989		<li>P->S at 124: in dbSNP:rs6750289</li><li>A->V at 294: in dbSNP:rs35233009</li>									<li>rs35233009</li><li>rs6750289</li>	2
Q17R55	148109		<li>P->S at 3: in dbSNP:rs34873156</li><li>C->R at 160: in dbSNP:rs565791</li><li>V->I at 216: in dbSNP:rs564117</li>									<li>rs565791</li><li>rs34873156</li><li>rs564117</li>	2
Q17R60	3617		<li>G->V at 463: in dbSNP:rs9443201</li><li>H->D at 518: in dbSNP:rs3734311</li><li>K->R at 569: in dbSNP:rs3734312</li><li>R->W at 704: in dbSNP:rs10943299</li><li>R->H at 711: in dbSNP:rs3734313</li><li>S->N at 761: in dbSNP:rs3778005</li>									<li>rs3734311</li><li>rs3734312</li><li>rs3734313</li><li>rs9443201</li><li>rs3778005</li><li>rs10943299</li>	2
Q17R89	9912		<li>V->M at 463: in dbSNP:rs3213688</li>									rs3213688	2
Q17RC7	91828		<li>R->W at 77: in dbSNP:rs2297067</li><li>D->E at 93: in dbSNP:rs2297066</li><li>L->H at 185: in dbSNP:rs10131298</li><li>R->Q at 675: in dbSNP:rs729184</li>									<li>rs10131298</li><li>rs729184</li><li>rs2297067</li><li>rs2297066</li>	2
Q17RD7	83851		<li>A->V at 10: in dbSNP:rs8019076</li><li>R->L at 131: in dbSNP:rs17099370</li>									<li>rs8019076</li><li>rs17099370</li>	2
Q17RF5	152816		<li>P->L at 30: in dbSNP:rs2306175</li><li>R->H at 109: in dbSNP:rs2306174</li>									<li>rs2306175</li><li>rs2306174</li>	2
Q17RG1	146212		<li>E->K at 750: in dbSNP:rs16957289</li>									rs16957289	2
Q17RM4	84865		<li>R->Q at 534: in dbSNP:rs13385919</li>									rs13385919	2
Q17RN3	147965		<li>T->K at 240: in dbSNP:rs3745962</li>									rs3745962	2
Q17RP2	81789		<li>R->W at 59: in dbSNP:rs9324636</li><li>Q->R at 327: in dbSNP:rs10875553</li>									<li>rs10875553</li><li>rs9324636</li>	2
Q17RQ9	284353		<li>V->L at 118: in dbSNP:rs3810144</li>									rs3810144	2
Q17RR3	119548		<li>L->F at 2: in dbSNP:rs10885929</li><li>F->L at 332: in dbSNP:rs7077408</li><li>F->Y at 450: in dbSNP:rs2116286</li>									<li>rs7077408</li><li>rs2116286</li><li>rs10885929</li>	2
Q17RS7	348654		<li>T->S at 92: in dbSNP:rs1812152</li><li>N->S at 143: in dbSNP:rs16981869</li><li>I->V at 203: in dbSNP:rs10177628</li><li>R->L at 275: in a breast cancer sample; somatic mutation</li><li>N->S at 310: in dbSNP:rs300175</li><li>I->T at 680: in dbSNP:rs300169</li><li>R->C at 898: in dbSNP:rs17315702</li>									<li>rs300175</li><li>rs10177628</li><li>rs1812152</li><li>rs17315702</li><li>rs300169</li><li>rs16981869</li>	2
Q17RW2	255631		<li>G->R at 1423: in dbSNP:rs7520146</li>									rs7520146	2
Q18PE1	285489		<li>R->Q at 158: in dbSNP:rs6811423</li><li>G->A at 180: in LGM, MIM: 254300</li><li>D->N at 197: in dbSNP:rs16844422, MIM: 254300</li><li>R->H at 261: in dbSNP:rs16844460, MIM: 254300</li><li>Q->R at 296: in dbSNP:rs6811423, MIM: 254300</li><li>G->R at 379: in dbSNP:rs6831659, MIM: 254300</li><li>P->S at 415: in dbSNP:rs16844464, MIM: 254300</li><li>G->D at 427: in dbSNP:rs2020433, MIM: 254300</li><li>R->W at 451: in dbSNP:rs16844470, MIM: 254300</li><li>G->D at 461: in dbSNP:rs9684786, MIM: 254300</li>								Familial limb-girdle myasthenia autosomal recessive (LGM) [MIM:254300]	<li>rs9684786</li><li>rs6831659</li><li>rs16844464</li><li>rs16844460</li><li>rs2020433</li><li>rs6811423</li><li>rs16844422</li><li>rs16844470</li>	2
Q1AE95	653659		<li>M->V at 193: in dbSNP:rs7630407</li>									rs7630407	2
Q1ED39	400506		<li>A->V at 266: in dbSNP:rs2074036</li>									rs2074036	2
Q1EHB4	159963		<li>V->L at 510: in dbSNP:rs12278761</li>									rs12278761	2
Q1HG43	90527		<li>S->G at 313: in dbSNP:rs16977686</li>									rs16977686	2
Q1HG44	405753		<li>R->G at 100: in dbSNP:rs2576090</li>									rs2576090	2
Q1L5Z9	164832		<li>L->P at 183: in dbSNP:rs4851287</li><li>P->L at 426: in dbSNP:rs4851287</li><li>R->W at 562: in a colorectal cancer sample; somatic mutation</li>									rs4851287	2
Q1L6U9	692094		<li>G->V at 116: in dbSNP:rs3750436</li>									rs3750436	2
Q1MSJ5	79848		<li>R->H at 872: in dbSNP:rs16933182</li><li>W->R at 1100: in dbSNP:rs1808140</li>									<li>rs1808140</li><li>rs16933182</li>	2
Q1MX18	387755		<li>D->N at 333: in dbSNP:rs17507577</li><li>Q->R at 450: in dbSNP:rs7123855</li>									<li>rs7123855</li><li>rs17507577</li>	2
Q1X8D7	55282		<li>R->P at 222: in dbSNP:rs9922085</li><li>G->S at 509: in dbSNP:rs8052655</li><li>S->G at 744: in dbSNP:rs16957415</li>									<li>rs16957415</li><li>rs8052655</li><li>rs9922085</li>	2
Q1ZYL8	113177		<li>A->T at 2: in dbSNP:rs17851210</li><li>F->L at 38: in dbSNP:rs35585208</li>									<li>rs35585208</li><li>rs17851210</li>	2
Q24JP5	54972		<li>R->H at 699: in dbSNP:rs524523</li><li>A->V at 969: in dbSNP:rs2469887</li>									<li>rs524523</li><li>rs2469887</li>	2
Q24JQ0	85019		<li>L->F at 131: in dbSNP:rs8099409</li>									rs8099409	2
Q27J81	64423		<li>P->S at 1096: in dbSNP:rs34251364</li><li>T->M at 1135: in dbSNP:rs3803311</li>									<li>rs3803311</li><li>rs34251364</li>	2
Q29718			<li>D->G at 186: in allele B*8202</li>										2
Q29836			<li>E->G at 69: in allele B*6702</li><li>I->V at 76: in allele B*6702</li><li>N->E at 87: in allele B*6702; requires 2 nucleotide substitutions</li><li>I->K at 90: in allele B*6702</li><li>A->R at 93: in allele B*6702; requires 2 nucleotide substitutions</li><li>T->A at 97: in allele B*6702</li><li>E->V at 100: in allele B*6702</li>										2
Q29865			<li>V->A at 319: in allele Cw*1802</li>										2
Q29960			<li>S->N at 101: in allele Cw*1602</li><li>N->K at 104: in allele Cw*1602</li><li>H->D at 153: in allele Cw*1602 and allele Cw*1604</li><li>C->W at 157: in allele Cw*1602 and allele Cw*1604</li><li>Q->W at 180: in allele Cw*1604; requires 2 nucleotide substitutions</li>										2
Q29963			<li>D->Y at 33: in allele Cw*0603</li><li>W->L at 180: in allele Cw*0604</li>										2
Q29980	4277		<li>E->G at 39: in allele MICB*002, allele MICB*003, allele MICB*004, allele MICB*005, allele MICB*006, allele MICB*007, allele MICB*008, allele MICB*010, allele MICB*011, allele MICB*012, allele MICB*013, allele MICB*014, allele MICB*015, allele MICB*016, allele MICB*018, allele MICB*019, allele MICB*020 and allele MICB*022; dbSNP:rs45578846</li><li>P->H at 68: in allele MICB*011; dbSNP:rs45583740</li><li>D->N at 75: in allele MICB*004 and allele MICB*020; dbSNP:rs3131639</li><li>K->E at 80: in allele MICB*002, allele MICB*007, allele MICB*008, allele MICB*014, allele MICB*015, allele MICB*016, allele MICB*019 and allele MICB*022; dbSNP:rs1065075</li><li>D->G at 88: in allele MICB*022; dbSNP:rs45486091</li><li>D->G at 105: in allele MICB*012; dbSNP:rs45502297</li><li>I->M at 121: in allele MICB*008; dbSNP:rs3134900</li><li>D->N at 136: in allele MICB*002, allele MICB*007, allele MICB*008, allele MICB*014, allele MICB*015, allele MICB*018, allele MICB*020 and allele MICB*022; dbSNP:rs1051788</li><li>T->I at 212: in allele MICB*003; dbSNP:rs41293883</li><li>E->K at 215: in allele MICB*006 and allele MICB*015; dbSNP:rs45624537</li><li>R->K at 279: in allele MICB*007; dbSNP:rs45587032</li><li>G->S at 291: in allele MICB*013, allele MICB*014, allele MICB*015 and allele MICB*016; dbSNP:rs41273040</li><li>V->A at 300: in allele MICB*002, allele MICB*003, allele MICB*004, allele MICB*005, allele MICB*006, allele MICB*007, allele MICB*008, allele MICB*010, allele MICB*011, allele MICB*012, allele MICB*013, allele MICB*014 and allele MICB*015; dbSNP:rs45470602</li><li>A->T at 383: in allele MICB*003, allele MICB*004, allele MICB*010 and allele MICB*011; dbSNP:rs1065076</li>									<li>rs45502297</li><li>rs45486091</li><li>rs41293883</li><li>rs3134900</li><li>rs45578846</li><li>rs1065076</li><li>rs41273040</li><li>rs45587032</li><li>rs1065075</li><li>rs45583740</li><li>rs45470602</li><li>rs45624537</li><li>rs3131639</li><li>rs1051788</li>	2
Q29983	4276		<li>R->P at 29: in allele MICA*010, allele MICA*025 and allele MICA*054; abolishes cell surface expression, probably by interfering with protein folding; dbSNP:rs9380254</li><li>W->G at 37: in allele MICA*002, allele MICA*011, allele MICA*013, allele MICA*014, allele MICA*015, allele MICA*017, allele MICA*020, allele MICA*022, allele MICA*023, allele MICA*030, allele MICA*034, allele MICA*035, allele MICA*036, allele MICA*041, allele MICA*044, allele MICA*046, allele MICA*047, allele MICA*052, allele MICA*053 and allele MICA*055; dbSNP:rs1063630</li><li>T->A at 47: in allele MICA*002, allele MICA*004, allele MICA*005, allele MICA*006, allele MICA*007, allele MICA*008, allele MICA*009, allele MICA*010, allele MICA*011, allele MICA*013, allele MICA*014, allele MICA*015, allele MICA*016, allele MICA*017, allele MICA*019, allele MICA*020, allele MICA*022, allele MICA*023, allele MICA*024, allele MICA*025, allele MICA*026, allele MICA*027, allele MICA*028, allele MICA*029, allele MICA*030, allele MICA*031, allele MICA*032, allele MICA*033, allele MICA*034, allele MICA*035, allele MICA*036, allele MICA*037, allele MICA*038, allele MICA*039, allele MICA*040, allele MICA*041, allele MICA*042, allele MICA*043, allele MICA*044, allele MICA*045, allele MICA*046, allele MICA*047, allele MICA*048, allele MICA*049, allele MICA*051, allele MICA*052, allele MICA*053, allele MICA*054, allele MICA*055 and allele MICA*056; dbSNP:rs1051785</li><li>V->G at 49: in allele MICA*041; dbSNP:rs17200158</li><li>C->Y at 59: in allele MICA*004, allele MICA*005, allele MICA*006, allele MICA*008, allele MICA*009, allele MICA*010, allele MICA*016, allele MICA*019, allele MICA*024, allele MICA*025, allele MICA*027, allele MICA*028, allele MICA*031, allele MICA*032, allele MICA*033, allele MICA*042, allele MICA*044, allele MICA*048, allele MICA*049, allele MICA*051, allele MICA*054 and allele MICA*056; dbSNP:rs1051786</li><li>Q->R at 114: in allele MICA*017; dbSNP:rs41558312</li><li>R->K at 128: in allele MICA*036; dbSNP:rs41557113</li><li>G->R at 137: in allele MICA*014 and allele MICA*015; dbSNP:rs41556715</li><li>L->V at 145: in allele MICA*004, allele MICA*006, allele MICA*009, allele MICA*044 and allele MICA*049; dbSNP:rs1051790</li><li>T->S at 147: in allele MICA*033; dbSNP:rs41539919</li><li>K->E at 148: in allele MICA*002, allele MICA*004, allele MICA*005, allele MICA*006, allele MICA*007, allele MICA*008, allele MICA*009, allele MICA*010, allele MICA*011, allele MICA*012, allele MICA*013, allele MICA*014, allele MICA*015, allele MICA*016, allele MICA*017, allele MICA*018, allele MICA*019, allele MICA*020, allele MICA*022, allele MICA*023, allele MICA*024, allele MICA*025, allele MICA*026, allele MICA*027, allele MICA*028, allele MICA*029, allele MICA*030, allele MICA*032, allele MICA*033, allele MICA*034, allele MICA*035, allele MICA*036, allele MICA*037, allele MICA*038, allele MICA*039, allele MICA*041, allele MICA*042, allele MICA*043, allele MICA*044, allele MICA*045, allele MICA*046, allele MICA*047, allele MICA*048, allele MICA*049, allele MICA*051, allele MICA*052, allele MICA*053, allele MICA*054, allele MICA*055 and allele MICA*056; dbSNP:rs1051791</li><li>M->V at 152: in allele MICA*004, allele MICA*005, allele MICA*006, allele MICA*008, allele MICA*009, allele MICA*010, allele MICA*013, allele MICA*016, allele MICA*019, allele MICA*022, allele MICA*024, allele MICA*027, allele MICA*028, allele MICA*033, allele MICA*044, allele MICA*048, allele MICA*049, allele MICA*053, allele MICA*054 and allele MICA*056; reduces binding affinity for KLRK1; dbSNP:rs1051792</li><li>V->I at 165: in allele MICA*029; dbSNP:rs3819269</li><li>M->V at 174: in allele MICA*011 and allele MICA*034; dbSNP:rs41560824</li><li>H->L at 179: in allele MICA*012, allele MICA*032 and allele MICA*043; dbSNP:rs3819268</li><li>K->E at 196: in allele MICA*004, allele MICA*006, allele MICA*008, allele MICA*009, allele MICA*010, allele MICA*013, allele MICA*014, allele MICA*016, allele MICA*019, allele MICA*022, allele MICA*024, allele MICA*027, allele MICA*028, allele MICA*033, allele MICA*036, allele MICA*044, allele MICA*048, allele MICA*049, allele MICA*053, allele MICA*054 and allele MICA*056; dbSNP:rs1051794</li><li>G->S at 198: in allele MICA*004, allele MICA*006, allele MICA*009, allele MICA*010, allele MICA*016, allele MICA*019, allele MICA*031, allele MICA*033, allele MICA*036, allele MICA*044, allele MICA*049, allele MICA*054 and allele MICA*056; dbSNP:rs1131896</li><li>V->I at 199: in allele MICA*006; dbSNP:rs41549718</li><li>T->R at 204: in allele MICA*004, allele MICA*014, allele MICA*032 and allele MICA*044; dbSNP:rs1131897</li><li>G->S at 229: in allele MICA*004, allele MICA*005, allele MICA*006, allele MICA*008, allele MICA*009, allele MICA*010, allele MICA*016, allele MICA*019, allele MICA*022, allele MICA*024, allele MICA*027, allele MICA*033, allele MICA*034, allele MICA*035, allele MICA*037, allele MICA*038, allele MICA*039, allele MICA*042, allele MICA*044, allele MICA*048, allele MICA*049, allele MICA*053, allele MICA*054 and allele MICA*056; dbSNP:rs1131898</li><li>Y->C at 231: in allele MICA*046; dbSNP:rs41546915</li><li>W->R at 233: in allele MICA*004, allele MICA*005, allele MICA*006, allele MICA*008, allele MICA*009, allele MICA*010, allele MICA*016, allele MICA*019, allele MICA*022, allele MICA*024, allele MICA*027, allele MICA*033, allele MICA*034, allele MICA*035, allele MICA*037, allele MICA*038, allele MICA*039, allele MICA*042, allele MICA*044, allele MICA*048, allele MICA*049, allele MICA*053, allele MICA*054 and allele MICA*056; dbSNP:rs1051798</li><li>T->I at 236: in allele MICA*008, allele MICA*010, allele MICA*016, allele MICA*019, allele MICA*022, allele MICA*027, allele MICA*033, allele MICA*035, allele MICA*037, allele MICA*039, allele MICA*042, allele MICA*048, allele MICA*053, allele MICA*054 and allele MICA*056; dbSNP:rs1140700</li><li>S->T at 238: in allele MICA*004, allele MICA*006, allele MICA*008, allele MICA*009, allele MICA*010, allele MICA*016, allele MICA*019, allele MICA*022, allele MICA*024, allele MICA*027, allele MICA*033, allele MICA*034, allele MICA*035, allele MICA*037, allele MICA*038, allele MICA*039, allele MICA*042, allele MICA*044, allele MICA*048, allele MICA*049, allele MICA*053, allele MICA*054 and allele MICA*056; dbSNP:rs1051799</li><li>V->L at 244: in allele MICA*016 and allele MICA*039; dbSNP:rs41540613</li><li>W->S at 253: in allele MICA*056</li><li>Q->R at 274: in allele MICA*005, allele MICA*008, allele MICA*010, allele MICA*013, allele MICA*016, allele MICA*019, allele MICA*022, allele MICA*027, allele MICA*033, allele MICA*035, allele MICA*037, allele MICA*039, allele MICA*042, allele MICA*045, allele MICA*048, allele MICA*053, allele MICA*054 and allele MICA*056; dbSNP:rs1063635</li><li>R->S at 279: in allele MICA*043; dbSNP:rs41557614</li><li>S->G at 291: in allele MICA*054</li><li>P->A at 294: in allele MICA*011, allele MICA*030 and allele MICA*047; dbSNP:rs41553616</li><li>VLVLQSHWQTFHVSA at 300-383: in allele MICA*015 and allele MICA*017</li><li>AAIFVIIIFYVRCCK at 318-383: in allele MICA*008, allele MICA*023, allele MICA*028 and allele MICA*053</li><li>A->AA at 319: in allele MICA*010, allele MICA*016, allele MICA*019, allele MICA*027, allele MICA*033, allele MICA*048, allele MICA*054 and allele MICA*056</li><li>A->AAA at 319: in allele MICA*004, allele MICA*006, allele MICA*009, allele MICA*011, allele MICA*026, allele MICA*047 and allele MICA*049</li><li>A->AAAA at 319: in allele MICA*050</li><li>A->AAAAA at 319: in allele MICA*055</li><li>A->AAAAAA at 319: in allele MICA*002, allele MICA*041, allele MICA*046 and allele MICA*052</li><li>A->AAAAAAA at 319: in allele MICA*020</li><li>V->I at 328: in allele MICA*052</li><li>R->C at 329: in allele MICA*002, allele MICA*011, allele MICA*020, allele MICA*041, allele MICA*043, allele MICA*046, allele MICA*047, allele MICA*050 and allele MICA*052; dbSNP:rs41554412</li><li>T->M at 356: in allele MICA*049</li><li>D->A at 373: in allele MICA*004, allele MICA*006, allele MICA*010, allele MICA*011, allele MICA*016, allele MICA*019, allele MICA*048 and allele MICA*049</li><li>T->A at 377: in allele MICA*011</li><li>A->T at 383: in allele MICA*018</li>	protein folding	GO:0006457	binding	GO:0005488	cell surface	GO:0009928,GO:0009986	<li>P26718</li><li>P61252</li><li>Q9MZ37</li><li>Q9MZJ7</li>			2
Q2EN02			<li>C->F at 130: in dbSNP:rs4845938</li>									rs4845938	2
Q2I0M5	343637		<li>Q->R at 65: in anonychia, MIM: 206800</li><li>C->F at 95: in anonychia, MIM: 206800</li><li>R->Q at 106: in dbSNP:rs6140807, MIM: 206800</li><li>C->R at 107: in anonychia, MIM: 206800</li><li>C->Y at 118: in anonychia, MIM: 206800</li>								Anonychia [MIM:206800]	rs6140807	2
Q2KHM9	9851		<li>H->Q at 201: in dbSNP:rs16955985</li><li>E->D at 375: in dbSNP:rs9889363</li><li>E->G at 375: in dbSNP:rs17794522</li><li>N->D at 444: in dbSNP:rs2289643</li><li>P->L at 466: in dbSNP:rs2289642</li><li>V->M at 501: in dbSNP:rs11868877</li><li>P->L at 566: in dbSNP:rs2304977</li><li>R->Q at 896: in dbSNP:rs1443417</li>									<li>rs2304977</li><li>rs17794522</li><li>rs9889363</li><li>rs16955985</li><li>rs1443417</li><li>rs2289642</li><li>rs11868877</li><li>rs2289643</li>	2
Q2KHR2	64864		<li>G->V at 434: in dbSNP:rs16976751</li><li>V->L at 677: in dbSNP:rs3803460</li><li>L->P at 1256: in dbSNP:rs33984059</li>									<li>rs3803460</li><li>rs16976751</li><li>rs33984059</li>	2
Q2KHR3	79832		<li>Q->R at 644: in dbSNP:rs2297781</li><li>S->N at 1018: in dbSNP:rs7940077</li><li>N->D at 1304: in dbSNP:rs16923676</li>									<li>rs7940077</li><li>rs2297781</li><li>rs16923676</li>	2
Q2KHT3	23274		<li>G->E at 906: in dbSNP:rs2241100</li>									rs2241100	2
Q2KHT4	83445		<li>F->L at 39: in dbSNP:rs2306765</li><li>G->V at 67: in dbSNP:rs11546332</li>									<li>rs2306765</li><li>rs11546332</li>	2
Q2LD37	84162		<li>I->T at 978: in dbSNP:rs6848868</li><li>T->A at 4352: in dbSNP:rs2306369</li><li>T->A at 4786: in dbSNP:rs10017270</li>									<li>rs10017270</li><li>rs6848868</li><li>rs2306369</li>	2
Q2M1P5	374654		<li>S->I at 958: in dbSNP:rs3803530</li><li>G->R at 1005: in dbSNP:rs12900805</li>									<li>rs3803530</li><li>rs12900805</li>	2
Q2M1V0	91464		<li>S->G at 28: in dbSNP:rs361863</li><li>P->S at 57: in dbSNP:rs362090</li><li>R->Q at 83: in dbSNP:rs8140287</li><li>A->V at 158: in dbSNP:rs7291048</li>									<li>rs7291048</li><li>rs8140287</li><li>rs362090</li><li>rs361863</li>	2
Q2M1Z3	57514		<li>P->L at 221: in dbSNP:rs751793</li><li>S->G at 803: in dbSNP:rs3732413</li><li>I->L at 1115: in dbSNP:rs12107254</li><li>V->M at 1366: in dbSNP:rs3796360</li><li>T->I at 1380: in dbSNP:rs9852894</li>									<li>rs3732413</li><li>rs3796360</li><li>rs751793</li><li>rs12107254</li><li>rs9852894</li>	2
Q2M243	148870		<li>Q->E at 54: in dbSNP:rs10910021</li><li>M->T at 267: in dbSNP:rs1181883</li><li>T->M at 353: in dbSNP:rs10910024</li>									<li>rs1181883</li><li>rs10910024</li><li>rs10910021</li>	2
Q2M296			<li>L->V at 45: in dbSNP:rs34005514</li><li>S->C at 296: in dbSNP:rs3751802</li><li>G->R at 315: in dbSNP:rs3751803</li>									<li>rs3751803</li><li>rs3751802</li><li>rs34005514</li>	2
Q2M2E3	146852		<li>W->R at 34: in dbSNP:rs12943505</li><li>V->M at 98: in dbSNP:rs12601097</li><li>Y->C at 139: in dbSNP:rs12936935</li>									<li>rs12601097</li><li>rs12943505</li><li>rs12936935</li>	2
Q2M2E5	285668		<li>A->T at 57: in dbSNP:rs16893687</li><li>R->W at 101: in dbSNP:rs436696</li>									<li>rs16893687</li><li>rs436696</li>	2
Q2M2I3	54854		<li>A->T at 91: in dbSNP:rs447802</li><li>P->L at 311: in dbSNP:rs3745728</li><li>R->H at 372: in dbSNP:rs3745727</li>									<li>rs3745727</li><li>rs3745728</li><li>rs447802</li>	2
Q2M2I5	192666		<li>A->T at 115: in dbSNP:rs9914185</li><li>G->D at 250: in dbSNP:rs7211480</li><li>M->I at 267: in dbSNP:rs874889</li><li>R->C at 366: in dbSNP:rs16966138</li><li>C->Y at 415: in dbSNP:rs12945784</li><li>W->R at 418: in dbSNP:rs12946793</li><li>K->E at 429: in dbSNP:rs2462961</li>									<li>rs2462961</li><li>rs874889</li><li>rs12945784</li><li>rs7211480</li><li>rs12946793</li><li>rs16966138</li><li>rs9914185</li>	2
Q2M2I8	22848		<li>I->V at 59: in dbSNP rsrs34535244</li><li>K->Q at 509: in dbSNP:rs6715776</li><li>Q->H at 533</li><li>V->A at 603: in dbSNP rsrs56038532</li><li>T->M at 694: in dbSNP rsrs55889248</li><li>P->T at 725: in dbSNP rsrs35285785</li><li>P->R at 771: in dbSNP rsrs34422616</li><li>D->G at 835</li>									<li>rs34422616</li><li>rs55889248</li><li>rs35285785</li><li>rs6715776</li><li>rs34535244</li><li>rs56038532</li>	2
Q2M2W7	284018		<li>I->V at 92: in dbSNP:rs9891146</li>									rs9891146	2
Q2M2Z5	55857		<li>Q->H at 139: in dbSNP:rs4815025</li><li>T->M at 236: in dbSNP:rs2236178</li>									<li>rs2236178</li><li>rs4815025</li>	2
Q2M329	257236		<li>E->K at 96: in dbSNP:rs871134</li>									rs871134	2
Q2M385	219972		<li>A->T at 467: in dbSNP:rs544864</li><li>P->L at 552: in dbSNP:rs7926933</li><li>Q->R at 694: in dbSNP:rs17153442</li>									<li>rs17153442</li><li>rs7926933</li><li>rs544864</li>	2
Q2M389	23325		<li>V->L at 323: in dbSNP:rs34434425</li><li>I->V at 901: in dbSNP:rs1663564</li>									<li>rs34434425</li><li>rs1663564</li>	2
Q2M3A8			<li>E->A at 6: in dbSNP:rs11026002</li><li>S->F at 135: in dbSNP:rs11026004</li><li>G->V at 142: in dbSNP:rs12280457</li>									<li>rs11026004</li><li>rs12280457</li><li>rs11026002</li>	2
Q2M3C6	123591		<li>R->H at 391: in dbSNP:rs937732</li><li>P->L at 427: in dbSNP:rs937733</li>									<li>rs937732</li><li>rs937733</li>	2
Q2M3C7	80309		<li>G->R at 425: in dbSNP:rs4283414</li><li>K->E at 617: in dbSNP:rs3811514</li><li>H->Q at 847: in dbSNP:rs3811515</li><li>Q->R at 867: in dbSNP:rs3828161</li>									<li>rs4283414</li><li>rs3811515</li><li>rs3828161</li><li>rs3811514</li>	2
Q2M3D2	90332		<li>N->D at 173: in dbSNP:rs10411314</li>									rs10411314	2
Q2M3G0	340273		<li>K->E at 115: in dbSNP:rs2301641</li><li>K->R at 224: in dbSNP:rs13222448</li><li>E->V at 230: in a colorectal cancer sample; somatic mutation</li><li>Q->H at 460: in dbSNP:rs35885925</li><li>A->T at 470: in dbSNP:rs17143304</li><li>K->E at 525: in dbSNP:rs6461515</li>									<li>rs35885925</li><li>rs2301641</li><li>rs13222448</li><li>rs17143304</li><li>rs6461515</li>	2
Q2M3G4	134549		<li>P->L at 180: in dbSNP:rs2292030</li>									rs2292030	2
Q2M3M2	200010		<li>V->M at 152: in dbSNP:rs212989</li><li>M->T at 207: in dbSNP:rs12047252</li><li>I->M at 269: in dbSNP:rs212991</li>									<li>rs12047252</li><li>rs212989</li><li>rs212991</li>	2
Q2M3T9	23553		<li>A->S at 346: in dbSNP:rs6949082</li>									rs6949082	2
Q2M3X9	641339		<li>L->F at 182: in dbSNP:rs1737367</li><li>T->M at 343</li><li>P->L at 412: in MRX92; uncertain pathological significance, MIM: 300573</li>								Mental retardation X-linked type 92 (MRX92) [MIM:300573]	rs1737367	2
Q2NKJ3	80169		<li>V->I at 820: in dbSNP:rs3027238</li><li>V->I at 1005: in dbSNP:rs3826543</li>									<li>rs3826543</li><li>rs3027238</li>	2
Q2NKK8	144132		<li>V->E at 240: in dbSNP:rs2555158</li><li>D->N at 317: in dbSNP:rs2555152</li><li>H->Y at 418: in dbSNP:rs4758423</li><li>Q->E at 560: in dbSNP:rs11603869</li>									<li>rs11603869</li><li>rs2555158</li><li>rs4758423</li><li>rs2555152</li>	2
Q2NKQ1	129049		<li>T->P at 802: in dbSNP:rs6004350</li><li>R->K at 873: in dbSNP:rs2073201</li>									<li>rs2073201</li><li>rs6004350</li>	2
Q2NL82	55720		<li>S->G at 386: in dbSNP:rs2281726</li><li>N->S at 719: in dbSNP:rs2273983</li><li>K->Q at 727: in dbSNP:rs35019711</li><li>H->Q at 750: in dbSNP:rs35343613</li>									<li>rs35343613</li><li>rs35019711</li><li>rs2273983</li><li>rs2281726</li>	2
Q2PPJ7	57186		<li>S->N at 492: in dbSNP:rs6137081</li>									rs6137081	2
Q2PZI1	23333		<li>G->V at 502: in dbSNP:rs1637696</li>									rs1637696	2
Q2T9K0			<li>H->N at 24: in dbSNP:rs1675955</li>									rs1675955	2
Q2TAC2	284001		<li>E->Q at 237: in dbSNP:rs34543170</li><li>Q->R at 321: in dbSNP:rs7406116</li><li>M->V at 480: in dbSNP:rs7209474</li><li>R->G at 775: in dbSNP:rs4625783</li><li>D->N at 777: in dbSNP:rs7406163</li><li>A->T at 778: in dbSNP:rs7406162</li><li>Q->K at 811: in dbSNP:rs7213172</li><li>M->T at 834: in dbSNP:rs11077969</li>									<li>rs7406163</li><li>rs34543170</li><li>rs7406162</li><li>rs11077969</li><li>rs7406116</li><li>rs7213172</li><li>rs7209474</li><li>rs4625783</li>	2
Q2TAC6	124602		<li>R->W at 471: in dbSNP:rs2382644</li><li>L->P at 937: in dbSNP:rs9891620</li>									<li>rs9891620</li><li>rs2382644</li>	2
Q2TAK8	84939		<li>R->G at 219: in dbSNP:rs3826942</li><li>G->A at 551: in dbSNP:rs34502536</li>									<li>rs34502536</li><li>rs3826942</li>	2
Q2TAL5	342527		<li>A->T at 162: in dbSNP:rs12449695</li>									rs12449695	2
Q2TAL6	375567		<li>A->G at 120: in dbSNP:rs769604</li>									rs769604	2
Q2TAM9	286319		<li>D->N at 120: in dbSNP:rs34498078</li>									rs34498078	2
Q2TAZ0	23130		<li>V->I at 175: in dbSNP:rs12293826</li><li>A->V at 627: in dbSNP:rs2285347</li><li>G->R at 948: in dbSNP:rs11827140</li>									<li>rs11827140</li><li>rs2285347</li><li>rs12293826</li>	2
Q2TB10	168850		<li>L->V at 102: in dbSNP:rs17865569</li>									rs17865569	2
Q2TB90	80201		<li>D->G at 54: in dbSNP:rs10823320</li><li>T->I at 124: in dbSNP:rs874556</li><li>L->P at 204: in dbSNP:rs7899445</li><li>R->W at 721: in dbSNP:rs1111335</li><li>N->K at 917: in dbSNP:rs906219</li>									<li>rs1111335</li><li>rs906219</li><li>rs874556</li><li>rs7899445</li><li>rs10823320</li>	2
Q2TBA0	131377		<li>N->S at 345: in dbSNP:rs6805421</li><li>C->R at 617: in dbSNP:rs123509</li>									<li>rs123509</li><li>rs6805421</li>	2
Q2TBE0			<li>P->T at 206: in dbSNP:rs608634</li><li>H->Y at 439: in dbSNP:rs659040</li><li>H->Q at 441: in dbSNP:rs35968518</li><li>G->R at 533: in dbSNP:rs17106909</li><li>Y->C at 890: in dbSNP:rs3758911</li>									<li>rs608634</li><li>rs3758911</li><li>rs17106909</li><li>rs35968518</li><li>rs659040</li>	2
Q2TBF2	9671		<li>T->I at 266: in dbSNP:rs3764002</li>									rs3764002	2
Q2UY09	340267		<li>A->G at 189: in dbSNP:rs7804532</li><li>I->V at 239: in dbSNP:rs10486180</li><li>T->S at 327: in dbSNP:rs10486176</li><li>E->D at 433: in dbSNP:rs6952195</li><li>A->P at 472: in dbSNP:rs17167927</li><li>R->Q at 741: in dbSNP:rs17167102</li>									<li>rs6952195</li><li>rs10486176</li><li>rs17167102</li><li>rs10486180</li><li>rs7804532</li><li>rs17167927</li>	2
Q2VIQ3	285643		<li>E->Q at 494: in dbSNP:rs17116709</li><li>R->L at 580: in dbSNP:rs6580126</li><li>R->H at 680: in dbSNP:rs17116710</li>									<li>rs17116709</li><li>rs17116710</li><li>rs6580126</li>	2
Q2VPA4	1379		<li>G->R at 116: in dbSNP:rs2296158</li><li>I->V at 139: in dbSNP:rs3085</li><li>N->D at 402: in dbSNP:rs12729569</li><li>V->I at 455: in dbSNP:rs6683902</li><li>L->P at 491: in dbSNP:rs2796257</li>									<li>rs3085</li><li>rs6683902</li><li>rs12729569</li><li>rs2796257</li><li>rs2296158</li>	2
Q2VPJ9	388886		<li>S->R at 140: in dbSNP:rs743370</li>									rs743370	2
Q2VPK5	348180		<li>M->V at 253: in dbSNP:rs11549837</li><li>V->I at 332: in dbSNP:rs4782321</li><li>Q->R at 416: in dbSNP:rs8059048</li>									<li>rs4782321</li><li>rs11549837</li><li>rs8059048</li>	2
Q2VWA4	652991		<li>F->C at 947: in dbSNP:rs7235231</li>									rs7235231	2
Q2VWP7	283659		<li>T->A at 236: in dbSNP:rs16976466</li><li>V->L at 826: in dbSNP:rs10518816</li><li>I->L at 1062: in dbSNP:rs1438914</li>									<li>rs16976466</li><li>rs10518816</li><li>rs1438914</li>	2
Q2VY69	342909		<li>K->E at 546: in dbSNP:rs8113249</li>									rs8113249	2
Q2WEN9	388551		<li>V->F at 31: in dbSNP:rs2119660</li>									rs2119660	2
Q2WGJ9	654463		<li>D->E at 1110: in dbSNP:rs7012186</li>									rs7012186	2
Q2WGN9	128954		<li>L->P at 273: in dbSNP:rs11703655</li>									rs11703655	2
Q2Y0W8	9498		<li>D->A at 312: in dbSNP:rs35966334</li><li>I->V at 898: in dbSNP:rs12318785</li>									<li>rs35966334</li><li>rs12318785</li>	2
Q2YD98	57654		<li>R->H at 391: in dbSNP:rs2276904</li><li>L->P at 620: in dbSNP:rs28522910</li>									<li>rs2276904</li><li>rs28522910</li>	2
Q30134			<li>S->D at 86: in allele DRB1*0802 and allele DRB1*0804; requires 2 nucleotide substitutions</li><li>F->I at 96: in allele DRB1*0803</li><li>G->V at 115: in allele DRB1*0804</li>							Q8IUH3			2
Q30154	3127		<li>M->T at 20: in dbSNP:rs17211043</li><li>L->S at 28</li><li>R->Q at 33: in dbSNP:rs34716432</li><li>K->T at 41: in dbSNP:rs1136756</li><li>N->H at 62: in dbSNP:rs1059576</li><li>T->N at 106: in dbSNP:rs16822752</li><li>G->A at 154</li>									<li>rs16822752</li><li>rs1059576</li><li>rs17211043</li><li>rs1136756</li><li>rs34716432</li>	2
Q30201	3077		<li>R->S at 6: in HH, MIM: 235200</li><li>G->D at 43: in HH; located on the same allele as D-63, MIM: 235200</li><li>V->M at 53: in dbSNP rsrs28934889, MIM: 235200</li><li>V->M at 59: in dbSNP rsrs28934890, MIM: 235200</li><li>H->D at 63: in HH and PV; dbSNP:rs1799945, MIM: 176200</li><li>S->C at 65: in HH; mild form; dbSNP:rs1800730, MIM: 235200</li><li>R->C at 66: in HH, MIM: 235200</li><li>G->R at 93: in HH; dbSNP:rs28934597, MIM: 235200</li><li>I->T at 105: in HH; dbSNP:rs28934596, MIM: 235200</li><li>Q->H at 127: in HH and PV; dbSNP:rs28934595, MIM: 176200</li><li>A->V at 176: in HH; uncertain pathological significance, MIM: 235200</li><li>T->I at 217: in dbSNP:rs4986950, MIM: 235200</li><li>R->G at 224: in HH, MIM: 235200</li><li>E->K at 277: rare polymorphism, MIM: 235200</li><li>C->Y at 282: in HH; dbSNP:rs1800562, MIM: 235200</li><li>Q->P at 283: in HH; destabilizing effect on the tertiary structure of the protein; prevents the normal interaction between HFE and B2M and between HFE and TFRC; decreases the capacity of HFE to reduce transferrin-mediated iron uptake, MIM: 235200</li><li>V->A at 295: in HH, MIM: 235200</li><li>R->M at 330: in HH, MIM: 235200</li>							<li>Q9GL41</li><li>Q9GL42</li><li>P21612</li><li>Q9GL43</li><li>P23055</li><li>P30442</li><li>P30441</li><li>P21611</li><li>P61769</li><li>Q8HZV3</li><li>P19717</li><li>O77529</li><li>Q9GLD3</li><li>Q6V7J5</li><li>O77528</li><li>O77526</li><li>O77525</li><li>O77524</li><li>Q861S3</li><li>O77523</li><li>P63061</li><li>P63062</li><li>P22044</li><li>O77521</li><li>O77520</li><li>P63060</li><li>P35939</li><li>Q86606</li><li>Q71UN6</li><li>P01885</li><li>Q71UN7</li><li>P01886</li><li>Q71UN4</li><li>Q71UN5</li><li>P01888</li><li>Q07717</li><li>P21740</li><li>P16595</li><li>P27425</li><li>O77518</li><li>O77517</li><li>P30928</li><li>P30927</li><li>O77519</li><li>P23056</li><li>Q07891</li><li>P23057</li><li>P61770</li><li>Q9GKZ0</li><li>P61771</li><li>Q71UN3</li><li>Q864T6</li><li>P03422</li><li>P12346</li><li>Q864T8</li><li>Q864T7</li><li>Q00793</li><li>Q06427</li><li>Q06428</li><li>P09571</li><li>P26033</li><li>Q6QAT4</li><li>Q9WS39</li><li>P26036</li><li>P55076</li><li>P63064</li><li>P06940</li><li>P63063</li><li>P63066</li><li>P63065</li><li>P63068</li><li>P63067</li><li>P55079</li><li>P63069</li><li>Q6T672</li><li>P11208</li><li>P11207</li><li>Q29443</li><li>Q9MYZ3</li><li>P63070</li><li>P63071</li><li>P60168</li><li>P60167</li><li>P60169</li><li>Q8AXA0</li><li>P19847</li><li>Q03335</li><li>P60166</li><li>Q5RDH6</li><li>Q9GKM2</li><li>O42197</li><li>Q03340</li><li>Q9PRF8</li><li>P35974</li><li>Q5MGS7</li><li>Q6PZD3</li><li>P02787</li><li>P19341</li><li>P02786</li><li>P60018</li><li>Q921I1</li><li>P21738</li><li>Q8CIQ3</li><li>P21739</li><li>Q9EMA9</li><li>Q8SPW0</li><li>Q863A9</li><li>P16213</li><li>Q2V905</li><li>Q9WV24</li><li>P36315</li><li>Q8AYH8</li><li>P33483</li><li>Q9IC37</li><li>Q863B1</li><li>Q03423</li><li>Q03422</li><li>Q9TSX4</li><li>O77530</li><li>O77531</li><li>Q9QM81</li><li>O77532</li><li>P35945</li><li>O77533</li><li>O77534</li><li>Q90997</li><li>O77535</li><li>O77536</li><li>P35941</li><li>O77537</li><li>Q30201</li><li>P19134</li><li>P16072</li>	<li>Hereditary hemochromatosis (HH) [MIM:235200]</li><li>Porphyria variegata (PV) [MIM:176200]</li>	<li>rs28934889</li><li>rs1800730</li><li>rs1799945</li><li>rs28934596</li><li>rs28934890</li><li>rs28934595</li><li>rs28934597</li><li>rs1800562</li><li>rs4986950</li>	2
Q30KQ4	245930		<li>Q->L at 19: in dbSNP:rs6119768</li>									rs6119768	2
Q32M45	121601		<li>G->A at 115: in dbSNP:rs34162417</li>									rs34162417	2
Q32M84	118663		<li>R->Q at 318: in dbSNP:rs2421013</li><li>G->D at 331: in dbSNP:rs986178</li><li>H->P at 439: in dbSNP:rs1048347</li><li>Q->R at 472: in dbSNP:rs10510108</li>									<li>rs986178</li><li>rs1048347</li><li>rs2421013</li><li>rs10510108</li>	2
Q32M92	145858		<li>A->T at 17: in dbSNP:rs1455773</li>									rs1455773	2
Q32MH5	56204		<li>Q->R at 135: in dbSNP:rs8036680</li><li>V->I at 560: in dbSNP:rs12915981</li>									<li>rs8036680</li><li>rs12915981</li>	2
Q32MK0	91807		<li>G->R at 366: in a colorectal cancer sample; somatic mutation</li>										2
Q32MQ0	79755		<li>M->V at 235: in dbSNP:rs8074277</li><li>P->L at 288: in dbSNP:rs35653278</li><li>Q->R at 392: in dbSNP:rs34687659</li>									<li>rs8074277</li><li>rs35653278</li><li>rs34687659</li>	2
Q32MZ4	9208		<li>S->C at 68: in a breast cancer sample; somatic mutation</li><li>Q->R at 275: in dbSNP:rs3213869</li><li>N->S at 418: in dbSNP:rs2001301</li><li>E->K at 609: in dbSNP:rs3739041</li><li>P->L at 645: in dbSNP:rs3739040</li><li>R->G at 779: in dbSNP:rs3739039</li><li>H->D at 783: in dbSNP:rs3739038</li>									<li>rs2001301</li><li>rs3739040</li><li>rs3739041</li><li>rs3739038</li><li>rs3739039</li><li>rs3213869</li>	2
Q32NC0	83608		<li>T->A at 132: in dbSNP:rs2276314</li>									rs2276314	2
Q32P28	64175		<li>G->R at 349: in dbSNP:rs6700677</li><li>P->R at 506: in dbSNP:rs3738501</li><li>M->I at 549: in dbSNP:rs11581921</li><li>Q->K at 644: in dbSNP:rs3738497</li>									<li>rs3738497</li><li>rs11581921</li><li>rs3738501</li><li>rs6700677</li>	2
Q32P41	57570		<li>S->P at 217: in dbSNP:rs7142228</li><li>L->P at 255: in dbSNP:rs2882686</li><li>E->A at 294: in dbSNP:rs2296928</li>									<li>rs2296928</li><li>rs2882686</li><li>rs7142228</li>	2
Q32P44	256364		<li>Q->K at 620: in dbSNP:rs34098002</li>									rs34098002	2
Q32P51	144983		<li>N->D at 215: in dbSNP:rs9536212</li>									rs9536212	2
Q330K2	137682		<li>Q->R at 99: in complex I deficiency</li>							Q07842			2
Q33E94	5992		<li>N->S at 687</li>										2
Q3B7T1	26098		<li>N->S at 45: in a colorectal cancer sample; somatic mutation</li><li>L->F at 95: in a colorectal cancer sample; somatic mutation</li>										2
Q3B820	84140		<li>I->V at 236: in dbSNP:rs17513722</li><li>E->K at 273: in dbSNP:rs6733774</li>									<li>rs17513722</li><li>rs6733774</li>	2
Q3BBV0	55672		<li>I->M at 20: in dbSNP:rs9730080</li><li>N->K at 31: in dbSNP:rs9730077</li><li>A->T at 510: in dbSNP:rs681623</li><li>C->G at 591: in dbSNP:rs3738661</li><li>V->M at 612: in dbSNP:rs672812</li><li>R->C at 663: in dbSNP:rs28453011</li><li>H->D at 712: in dbSNP:rs3901680</li><li>K->E at 726: in dbSNP:rs3901679</li><li>Q->P at 734: in dbSNP:rs9727080</li><li>Q->K at 850: in dbSNP:rs11581926</li>									<li>rs3738661</li><li>rs9730077</li><li>rs9727080</li><li>rs681623</li><li>rs672812</li><li>rs3901679</li><li>rs11581926</li><li>rs3901680</li><li>rs28453011</li><li>rs9730080</li>	2
Q3I5F7	641372		<li>E->K at 166: in dbSNP:rs17782052</li>									rs17782052	2
Q3KNS1	374308		<li>T->A at 126: in dbSNP:rs12098477</li><li>L->P at 152: in dbSNP:rs6482626</li><li>A->G at 224: in dbSNP:rs12098562</li><li>R->K at 372: in dbSNP:rs2152099</li><li>C->G at 407: in dbSNP:rs2484180</li><li>D->G at 473: in dbSNP:rs2429485</li><li>M->T at 521: in dbSNP:rs2505327</li><li>M->I at 584: in dbSNP:rs1638630</li>									<li>rs2505327</li><li>rs1638630</li><li>rs2484180</li><li>rs12098562</li><li>rs2152099</li><li>rs12098477</li><li>rs2429485</li><li>rs6482626</li>	2
Q3KNW5	345274		<li>S->F at 6: in dbSNP:rs17694522</li><li>I->V at 114: in dbSNP:rs13106574</li>									<li>rs13106574</li><li>rs17694522</li>	2
Q3KP44	79722		<li>V->M at 344: in dbSNP:rs321776</li>									rs321776	2
Q3KP66	55765		<li>C->R at 538: in dbSNP:rs296520</li>									rs296520	2
Q3KPI0	90273		<li>T->N at 121: in dbSNP:rs714106</li><li>M->V at 198: in dbSNP:rs2302188</li>									<li>rs2302188</li><li>rs714106</li>	2
Q3KQU3	55700		<li>R->W at 104: in dbSNP:rs2296266</li><li>R->S at 531: in dbSNP:rs12563354</li>									<li>rs2296266</li><li>rs12563354</li>	2
Q3KQV3	126375		<li>R->Q at 177: in dbSNP:rs2651079</li><li>R->W at 525: in dbSNP:rs3746244</li>									<li>rs3746244</li><li>rs2651079</li>	2
Q3KQV9	91373		<li>A->V at 319: in dbSNP:rs7037849</li><li>P->S at 373: in dbSNP:rs1122444</li>									<li>rs7037849</li><li>rs1122444</li>	2
Q3KRA6	130355		<li>V->I at 46: in dbSNP:rs6542522</li><li>R->K at 116: in dbSNP:rs1052500</li>									<li>rs6542522</li><li>rs1052500</li>	2
Q3L8U1	80205		<li>D->E at 2312: in dbSNP:rs6499548</li>									rs6499548	2
Q3LFD5			<li>Y->C at 130: in dbSNP:rs2542134</li><li>N->S at 325: in dbSNP:rs2277833</li>									<li>rs2277833</li><li>rs2542134</li>	2
Q3LHN2	337969		<li>Y->H at 5: in dbSNP:rs7280687</li><li>G->C at 32: in dbSNP:rs8131735</li>									<li>rs8131735</li><li>rs7280687</li>	2
Q3LI54	728299		<li>A->T at 61: in dbSNP:rs7279142</li>									rs7279142	2
Q3LI58	337977		<li>G->S at 15: in a breast cancer sample; somatic mutation</li>										2
Q3LI63	337975		<li>S->L at 52: in a breast cancer sample; somatic mutation</li>										2
Q3LI67			<li>Y->S at 51: in dbSNP:rs9305426</li>									rs9305426	2
Q3LI73	337971		<li>Y->C at 48: in dbSNP:rs2298437</li>									rs2298437	2
Q3LI76	254950		<li>L->M at 43: in dbSNP:rs2832873</li>									rs2832873	2
Q3LI77	284827		<li>A->T at 59: in dbSNP:rs2226548</li><li>R->H at 154: in dbSNP:rs999597</li>									<li>rs999597</li><li>rs2226548</li>	2
Q3LI81	643812		<li>A->V at 99: in dbSNP:rs2244485</li>									rs2244485	2
Q3LIE5	56985		<li>L->R at 92: in dbSNP:rs34940296</li><li>E->G at 337: in dbSNP:rs406446</li>									<li>rs34940296</li><li>rs406446</li>	2
Q3LXA3	26007		<li>T->A at 185: in dbSNP:rs2260655</li><li>A->G at 334: in dbSNP:rs35723406</li>									<li>rs35723406</li><li>rs2260655</li>	2
Q3MHD2	124801		<li>P->R at 77: in dbSNP:rs17854322</li>									rs17854322	2
Q3MIN7	57139		<li>P->H at 162: in dbSNP:rs167479</li><li>V->A at 164: in dbSNP:rs160838</li><li>R->C at 615: in dbSNP:rs2291516</li>									<li>rs2291516</li><li>rs167479</li><li>rs160838</li>	2
Q3MIP1	162073		<li>C->S at 237: in dbSNP:rs8051801</li><li>P->S at 522: in dbSNP:rs11074362</li>									<li>rs8051801</li><li>rs11074362</li>	2
Q3MIS6	84436		<li>S->N at 419: in dbSNP:rs324109</li>									rs324109	2
Q3MIT2	150962		<li>T->I at 484: in a colorectal cancer sample; somatic mutation</li>										2
Q3MIW9	135656		<li>G->R at 337: in dbSNP:rs11970154</li><li>E->K at 419: in dbSNP:rs3132580</li><li>R->Q at 517: in dbSNP:rs2240804</li>									<li>rs2240804</li><li>rs3132580</li><li>rs11970154</li>	2
Q3MIX3	203054		<li>R->S at 17: in dbSNP:rs6599528</li>									rs6599528	2
Q3MJ13	256764		<li>L->F at 819: in dbSNP:rs17730281</li><li>S->A at 833: in dbSNP:rs16966320</li>									<li>rs16966320</li><li>rs17730281</li>	2
Q3MJ16			<li>N->S at 370: in dbSNP:rs4924595</li><li>A->T at 663: in dbSNP:rs8030775</li>									<li>rs8030775</li><li>rs4924595</li>	2
Q3SX64	284451		<li>V->A at 135: in dbSNP:rs34551779</li>									rs34551779	2
Q3SXM5	83693		<li>P->S at 248: in dbSNP:rs11540436</li><li>C->S at 327: in dbSNP:rs4378600</li>									<li>rs4378600</li><li>rs11540436</li>	2
Q3SXY7	345193		<li>M->L at 209: in dbSNP:rs764205</li><li>T->A at 359: in dbSNP:rs2347131</li><li>M->T at 376: in dbSNP:rs2347132</li>									<li>rs2347131</li><li>rs2347132</li><li>rs764205</li>	2
Q3SXY8	200894		<li>R->Q at 79: in JBTS8; reduces binding to GTP, MIM: 612291</li><li>R->C at 200: in JBTS8, MIM: 612291</li><li>T->S at 348: in dbSNP:rs33944211, MIM: 612291</li>			binding	GO:0005488				Joubert syndrome type 8 (JBTS8) [MIM:612291]	rs33944211	2
Q3SXZ7	164395		<li>Y->C at 76: in dbSNP:rs17093689</li>									rs17093689	2
Q3SY00	254187		<li>A->V at 210: in dbSNP:rs565921</li><li>R->S at 237: in dbSNP:rs7927388</li><li>S->N at 292: in dbSNP:rs7927826</li><li>R->P at 305: in dbSNP:rs7927841</li><li>V->M at 521: in dbSNP:rs491973</li>									<li>rs7927841</li><li>rs565921</li><li>rs491973</li><li>rs7927826</li><li>rs7927388</li>	2
Q3SY05	284573		<li>V->A at 98: in dbSNP:rs4951039</li>									rs4951039	2
Q3SY56	80320		<li>V->I at 156: in dbSNP:rs34309518</li>									rs34309518	2
Q3SY77	167127		<li>R->H at 515: in a colorectal cancer sample; somatic mutation</li>										2
Q3SY84	112802		<li>V->I at 107: in dbSNP:rs665522</li><li>E->K at 122: in dbSNP:rs665470</li><li>I->F at 355: in dbSNP:rs35988863</li><li>G->V at 464: in dbSNP:rs10783518</li><li>R->Q at 523: in dbSNP:rs2292506</li>									<li>rs35988863</li><li>rs665470</li><li>rs2292506</li><li>rs665522</li><li>rs10783518</li>	2
Q3SYC2	80168		<li>M->V at 9: in dbSNP:rs554202</li><li>P->H at 196: in dbSNP:rs34582952</li><li>C->Y at 313: in dbSNP:rs12281468</li>									<li>rs34582952</li><li>rs12281468</li><li>rs554202</li>	2
Q3SYG4	27241		<li>T->A at 12: in dbSNP:rs4498440</li><li>G->R at 141: in BBS9, MIM: 209900</li><li>A->T at 455: in dbSNP:rs11773504, MIM: 209900</li><li>A->V at 455: in dbSNP:rs11773504, MIM: 209900</li><li>R->Q at 521: in dbSNP:rs34218557, MIM: 209900</li>							Q3SYG4	Bardet-Biedl syndrome type 9 (BBS9) [MIM:209900]	<li>rs11773504</li><li>rs4498440</li><li>rs34218557</li>	2
Q3T8J9	54856		<li>M->V at 1418: in dbSNP:rs2297775</li>									rs2297775	2
Q3T906	79158		<li>K->Q at 4: in MLIIIA; dbSNP:rs34159654, MIM: 252600</li><li>D->V at 190: in dbSNP:rs34946266, MIM: 252600</li><li>I->L at 348: in dbSNP:rs7958709, MIM: 252600</li><li>D->A at 407: in MLIIIA, MIM: 252600</li><li>A->G at 662, MIM: 252600</li><li>K->M at 1236: in MLII; not only impairs lysosomal enzyme targeting but also the availability of intact GNPTG required for phosphotransferase activity and assembly of subunits, MIM: 252500</li>							<li>Q58CS8</li><li>Q9UJJ9</li>	<li>Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]</li><li>Mucolipidosis type II (MLII) [MIM:252500]</li>	<li>rs34159654</li><li>rs34946266</li><li>rs7958709</li>	2
Q3V5L5	146664		<li>V->I at 70: in dbSNP:rs571264</li>									rs571264	2
Q3YBM2	28959		<li>P->S at 55: in dbSNP:rs11546671</li><li>T->A at 70: in dbSNP:rs28434777</li><li>R->S at 94: in dbSNP:rs3173833</li><li>A->T at 134: in dbSNP:rs2072443</li><li>R->W at 180: in dbSNP:rs17256042</li>									<li>rs28434777</li><li>rs17256042</li><li>rs3173833</li><li>rs11546671</li><li>rs2072443</li>	2
Q3YEC7	55684		<li>E->Q at 382: in dbSNP:rs2811741</li>									rs2811741	2
Q3ZCM7	347688		<li>L->F at 345: in dbSNP:rs4880608</li>									rs4880608	2
Q3ZCN5			<li>C->F at 653: in a breast cancer sample; somatic mutation</li>										2
Q3ZCQ2	389289		<li>R->Q at 119: in dbSNP:rs1054428</li><li>R->W at 186: in dbSNP:rs10971</li>									<li>rs1054428</li><li>rs10971</li>	2
Q3ZCQ3	400451		<li>S->L at 114: in dbSNP:rs34052034</li>									rs34052034	2
Q3ZCT8	166348		<li>Q->K at 22: in dbSNP:rs4141499</li>									rs4141499	2
Q3ZCV2	163747		<li>G->C at 126: in dbSNP:rs9782980</li><li>Y->H at 205: in dbSNP:rs600499</li>									<li>rs600499</li><li>rs9782980</li>	2
Q3ZCX4	374900		<li>M->T at 437: in dbSNP:rs547483</li><li>Q->R at 642: in dbSNP:rs1644634</li>									<li>rs1644634</li><li>rs547483</li>	2
Q400G9	155185		<li>R->H at 491: in dbSNP:rs7776970</li>									rs7776970	2
Q401N2	353174		<li>A->T at 152: in dbSNP:rs2257020</li>									rs2257020	2
Q460N3	165631		<li>R->K at 315: in dbSNP:rs6793271</li><li>G->R at 606: in dbSNP:rs12489170</li>									<li>rs6793271</li><li>rs12489170</li>	2
Q494R4	283152		<li>R->H at 101: in dbSNP:rs2301574</li>									rs2301574	2
Q494U1	84069		<li>R->P at 539: in dbSNP:rs3829740</li>									rs3829740	2
Q495B1	348094		<li>K->E at 264: in dbSNP:rs34988193</li>									rs34988193	2
Q495D7	283422		<li>P->L at 38: in dbSNP:rs11055389</li><li>A->E at 76: in dbSNP:rs17821405</li><li>I->V at 84: in dbSNP:rs7308685</li>									<li>rs17821405</li><li>rs11055389</li><li>rs7308685</li>	2
Q495M3	153201		<li>A->V at 445: in dbSNP:rs10042608</li>									rs10042608	2
Q495M9	124590		<li>L->P at 48: in USH1G, MIM: 606943</li>							Q495M9	Usher syndrome type 1G (USH1G) [MIM:606943]		2
Q495N2	285641		<li>K->E at 167: in dbSNP:rs978012</li><li>P->S at 185: in dbSNP:rs12520516</li><li>R->H at 190: in dbSNP:rs17660042</li><li>E->D at 415: in dbSNP:rs13155282</li><li>S->F at 421: in dbSNP:rs13155520</li>									<li>rs12520516</li><li>rs13155520</li><li>rs978012</li><li>rs13155282</li><li>rs17660042</li>	2
Q495T6			<li>M->T at 518: in dbSNP:rs3748816</li>									rs3748816	2
Q495W5	170384		<li>S->A at 51: in dbSNP:rs17853514</li>									rs17853514	2
Q495Z4	339201		<li>S->R at 32: in dbSNP:rs7217858</li>									rs7217858	2
Q496A3	221409		<li>G->R at 8: in dbSNP:rs10948132</li>									rs10948132	2
Q496F6	342510		<li>K->T at 19: in dbSNP:rs581157</li><li>T->A at 27: in a colorectal cancer sample; somatic mutation</li><li>R->G at 158: in dbSNP:rs1878061</li>									<li>rs581157</li><li>rs1878061</li>	2
Q496J9	22987		<li>T->S at 482: in dbSNP:rs2270927</li><li>D->N at 543: in dbSNP:rs31244</li>									<li>rs31244</li><li>rs2270927</li>	2
Q496Y0	79836		<li>A->G at 122: in a breast cancer sample; somatic mutation</li>										2
Q499Z3	200172		<li>A->T at 30: in dbSNP:rs1138293</li><li>R->S at 128: in dbSNP:rs17851964</li><li>R->T at 144: in dbSNP:rs3738368</li>									<li>rs1138293</li><li>rs3738368</li><li>rs17851964</li>	2
Q49A26	84656		<li>N->D at 103: in dbSNP:rs34176249</li><li>Q->H at 459: in dbSNP:rs2085329</li><li>Y->C at 531: in dbSNP:rs17703111</li>									<li>rs34176249</li><li>rs17703111</li><li>rs2085329</li>	2
Q49A88			<li>T->P at 317: in dbSNP:rs17310144</li>									rs17310144	2
Q49A92	116328		<li>K->N at 75: in a colorectal cancer sample; somatic mutation</li><li>A->T at 426: in dbSNP:rs16935065</li>									rs16935065	2
Q49AA0	339559		<li>V->L at 113: in dbSNP:rs34752670</li>									rs34752670	2
Q49AG3	58486		<li>A->V at 17: in dbSNP:rs2232918</li><li>Q->R at 47: in dbSNP:rs2232919</li><li>P->S at 77: in dbSNP:rs2232920</li>									<li>rs2232920</li><li>rs2232919</li><li>rs2232918</li>	2
Q49AJ0	51059		<li>I->V at 477: in dbSNP:rs7835830</li><li>D->N at 846: in dbSNP:rs2978180</li>									<li>rs2978180</li><li>rs7835830</li>	2
Q49AM1	80298		<li>L->V at 14: in dbSNP:rs34238336</li><li>A->V at 31: in dbSNP:rs35305400</li><li>A->G at 81: in dbSNP:rs35548605</li><li>V->I at 198: in dbSNP:rs1043157</li>									<li>rs35548605</li><li>rs34238336</li><li>rs1043157</li><li>rs35305400</li>	2
Q49AM3	64427		<li>A->V at 28: in dbSNP:rs6707475</li><li>T->P at 205: in dbSNP:rs35852562</li>									<li>rs35852562</li><li>rs6707475</li>	2
Q49AR2	55322		<li>T->P at 235: in dbSNP:rs17410000</li><li>D->E at 405: in dbSNP:rs16901277</li>									<li>rs16901277</li><li>rs17410000</li>	2
Q49MG5	79884		<li>M->V at 146: in dbSNP:rs34082815</li><li>R->W at 177: in dbSNP:rs3733391</li><li>K->R at 499: in dbSNP:rs1058992</li><li>N->D at 601: in dbSNP:rs2305050</li>									<li>rs1058992</li><li>rs2305050</li><li>rs3733391</li><li>rs34082815</li>	2
Q4AC94	26005		<li>P->R at 773: in dbSNP:rs34050666</li><li>R->Q at 997: in dbSNP:rs11235995</li><li>Q->R at 1219: in dbSNP:rs826058</li><li>Y->C at 1297: in dbSNP:rs1095423</li><li>S->N at 1663: in dbSNP:rs12419308</li><li>G->W at 1831: in dbSNP:rs1632245</li><li>R->G at 1832: in dbSNP:rs1632242</li>									<li>rs12419308</li><li>rs826058</li><li>rs34050666</li><li>rs1095423</li><li>rs1632242</li><li>rs11235995</li><li>rs1632245</li>	2
Q4AE62	79712		<li>M->I at 137: in dbSNP:rs3731958</li>									rs3731958	2
Q4FZB7	51111		<li>I->N at 9: in dbSNP:rs2512606</li>									rs2512606	2
Q4G0A6	84182		<li>D->A at 183: in dbSNP:rs34357272</li><li>S->L at 262: in dbSNP:rs17159453</li><li>M->T at 322: in dbSNP:rs12701034</li><li>R->K at 324: in dbSNP:rs35897481</li><li>A->V at 355: in dbSNP:rs12672119</li><li>M->V at 655: in dbSNP:rs10216063</li>									<li>rs35897481</li><li>rs12672119</li><li>rs12701034</li><li>rs10216063</li><li>rs17159453</li><li>rs34357272</li>	2
Q4G0N8	285335		<li>I->V at 158: in dbSNP:rs9828502</li><li>I->V at 286: in dbSNP:rs9872691</li><li>I->M at 348: in dbSNP:rs9809404</li><li>I->V at 364: in dbSNP:rs9809384</li><li>T->A at 424: in dbSNP:rs6768523</li><li>T->I at 705: in dbSNP:rs4434123</li><li>Q->K at 732: in dbSNP:rs6781844</li><li>S->I at 768: in dbSNP:rs9288938</li>									<li>rs9809404</li><li>rs6781844</li><li>rs9288938</li><li>rs9828502</li><li>rs6768523</li><li>rs4434123</li><li>rs9809384</li><li>rs9872691</li>	2
Q4G0P3	54768		<li>R->P at 451: in dbSNP:rs7200485</li><li>T->N at 584: in dbSNP:rs7200126</li><li>T->A at 690: in dbSNP:rs10744982</li><li>N->D at 724: in dbSNP:rs3817211</li><li>V->M at 1717: in dbSNP:rs783762</li><li>R->H at 1891: in dbSNP:rs783732</li><li>R->Q at 1951: in dbSNP:rs17321570</li><li>V->M at 2098: in dbSNP:rs1798337</li><li>Q->R at 2275: in dbSNP:rs1815707</li><li>E->G at 2305: in dbSNP:rs2502726</li><li>N->I at 2444: in dbSNP:rs1798532</li><li>L->S at 2501: in dbSNP:rs1798529</li><li>G->E at 2557: in dbSNP:rs8044142</li><li>K->R at 2588: in dbSNP:rs1774395</li><li>P->L at 2931: in dbSNP:rs11075812</li><li>E->K at 2936: in dbSNP:rs8047935</li><li>R->K at 2938: in dbSNP:rs7188837</li><li>E->G at 2993: in dbSNP:rs12102425</li><li>T->R at 3115: in dbSNP:rs1774423</li><li>Y->D at 3268: in dbSNP:rs7197263</li><li>R->H at 3810: in dbSNP:rs13338821</li><li>V->M at 3898: in dbSNP:rs1626593</li><li>A->T at 4025: in dbSNP:rs11075798</li><li>K->R at 4087: in dbSNP:rs1774416</li><li>H->Y at 4269: in dbSNP:rs1891343</li><li>G->S at 4519: in dbSNP:rs2292127</li><li>N->K at 4605: in dbSNP:rs783898</li>									<li>rs783732</li><li>rs7200126</li><li>rs1774423</li><li>rs1626593</li><li>rs1798529</li><li>rs1798532</li><li>rs13338821</li><li>rs2292127</li><li>rs2502726</li><li>rs783898</li><li>rs8047935</li><li>rs783762</li><li>rs11075812</li><li>rs7188837</li><li>rs17321570</li><li>rs1798337</li><li>rs1815707</li><li>rs3817211</li><li>rs1774416</li><li>rs7197263</li><li>rs1891343</li><li>rs12102425</li><li>rs7200485</li><li>rs8044142</li><li>rs10744982</li><li>rs1774395</li><li>rs11075798</li>	2
Q4G0S4	339761		<li>T->M at 359: in dbSNP:rs35075135</li>									rs35075135	2
Q4G0U5	200373		<li>I->V at 351: in dbSNP:rs2272058</li><li>M->I at 509: in dbSNP:rs11686014</li>									<li>rs2272058</li><li>rs11686014</li>	2
Q4G0X9	55036		<li>A->P at 8: in dbSNP:rs2289530</li>									rs2289530	2
Q4G0Z9	157777		<li>M->K at 132: in dbSNP:rs16933088</li><li>L->V at 317: in dbSNP:rs17332410</li><li>S->A at 578: in dbSNP:rs11778562</li>									<li>rs11778562</li><li>rs17332410</li><li>rs16933088</li>	2
Q4G112			<li>T->N at 329: in dbSNP:rs1017089</li>									rs1017089	2
Q4G176	197322		<li>P->L at 2: in dbSNP:rs7188200</li><li>A->P at 17: in dbSNP:rs11547019</li><li>V->M at 372: in dbSNP:rs3743979</li>									<li>rs7188200</li><li>rs11547019</li><li>rs3743979</li>	2
Q4KMQ2	196527		<li>A->T at 128: in dbSNP:rs2162321</li>									rs2162321	2
Q4KMZ1	55721		<li>F->C at 209: in dbSNP:rs3903683</li><li>C->Y at 217: in dbSNP:rs12032332</li><li>P->L at 464: in dbSNP:rs41306593</li>									<li>rs3903683</li><li>rs12032332</li><li>rs41306593</li>	2
Q4L180	11259		<li>R->H at 168: in dbSNP:rs793440</li><li>A->P at 884: in dbSNP:rs28362487</li>									<li>rs28362487</li><li>rs793440</li>	2
Q4L235	132949		<li>K->R at 368: in dbSNP:rs3796543</li><li>A->V at 747: in dbSNP:rs3796544</li><li>V->I at 774: in dbSNP:rs3796545</li><li>T->A at 865: in dbSNP:rs12498340</li><li>D->Y at 1030: in dbSNP:rs8340</li>									<li>rs12498340</li><li>rs3796545</li><li>rs3796543</li><li>rs3796544</li><li>rs8340</li>	2
Q4LDE5	79987		<li>G->A at 332: in dbSNP:rs3818764</li><li>G->S at 428: in dbSNP:rs10980419</li><li>V->I at 507: in dbSNP:rs872665</li><li>Q->H at 581: in dbSNP:rs10817033</li><li>I->V at 637: in dbSNP:rs13286541</li><li>K->R at 899: in dbSNP:rs10817025</li><li>I->V at 1157: in dbSNP:rs7038903</li><li>L->M at 1330: in dbSNP:rs10817021</li><li>K->Q at 1416: in dbSNP:rs1889323</li><li>M->L at 1444: in dbSNP:rs7863519</li><li>L->V at 1651: in dbSNP:rs7852962</li><li>E->A at 1813: in dbSNP:rs2986671</li><li>R->K at 1956: in dbSNP:rs17204832</li><li>T->A at 2610: in dbSNP:rs3802433</li><li>A->V at 2753: in dbSNP:rs7030192</li><li>I->V at 2925: in dbSNP:rs16914996</li><li>F->I at 3164: in dbSNP:rs3739451</li><li>P->T at 3233: in dbSNP:rs16914992</li><li>T->M at 3562: in dbSNP:rs17204533</li>									<li>rs7863519</li><li>rs10980419</li><li>rs7030192</li><li>rs7852962</li><li>rs2986671</li><li>rs16914992</li><li>rs3739451</li><li>rs16914996</li><li>rs3818764</li><li>rs10817025</li><li>rs10817021</li><li>rs7038903</li><li>rs17204832</li><li>rs10817033</li><li>rs3802433</li><li>rs17204533</li><li>rs1889323</li><li>rs13286541</li><li>rs872665</li>	2
Q4LDR2	613212		<li>E->V at 17: in dbSNP:rs248709</li><li>M->I at 23: in dbSNP:rs2280170</li>									<li>rs248709</li><li>rs2280170</li>	2
Q4LEZ3	441376		<li>G->R at 96: in dbSNP:rs16889283</li>									rs16889283	2
Q4U2R6	51258		<li>M->I at 102: in dbSNP:rs9526</li>									rs9526	2
Q4V9L6	338773		<li>I->T at 72: in dbSNP:rs7975237</li>									rs7975237	2
Q4VC05	605		<li>N->T at 120: in dbSNP:rs34821485</li>									rs34821485	2
Q4VC12	118490		<li>L->P at 417: in dbSNP:rs11591720</li>									rs11591720	2
Q4VNC0	344905		<li>E->Q at 133: in dbSNP:rs6797429</li><li>G->S at 739: in dbSNP:rs2280268</li><li>I->V at 1053: in dbSNP:rs6787746</li><li>V->A at 1131: in dbSNP:rs2271791</li><li>K->Q at 1204: in dbSNP:rs7428010</li>									<li>rs2280268</li><li>rs6797429</li><li>rs6787746</li><li>rs7428010</li><li>rs2271791</li>	2
Q4VNC1	84239		<li>I->M at 181: in dbSNP:rs6788448</li><li>V->A at 353</li><li>E->D at 646: in dbSNP:rs35424709</li>									<li>rs6788448</li><li>rs35424709</li>	2
Q4VX76	94120		<li>P->S at 414: in dbSNP:rs901363</li><li>V->I at 540: in dbSNP:rs2291388</li><li>Q->L at 587: in dbSNP:rs3123101</li>									<li>rs2291388</li><li>rs901363</li><li>rs3123101</li>	2
Q4VXU2	80336		<li>S->A at 212: in dbSNP:rs2075960</li>									rs2075960	2
Q4W5G0	166815		<li>H->R at 475: in dbSNP:rs2280099</li>									rs2280099	2
Q4W5P6	132332		<li>V->A at 11: in dbSNP:rs4370153</li>									rs4370153	2
Q4ZG55	9687		<li>N->T at 77: in dbSNP:rs10929757</li><li>V->A at 122: in dbSNP:rs4669751</li><li>V->M at 346: in dbSNP:rs6744817</li><li>R->Q at 973: in dbSNP:rs3762579</li><li>Y->C at 1463: in dbSNP:rs11695925</li><li>D->N at 1687: in dbSNP:rs2304402</li><li>L->V at 1814: in dbSNP:rs34955282</li>									<li>rs2304402</li><li>rs3762579</li><li>rs10929757</li><li>rs11695925</li><li>rs4669751</li><li>rs34955282</li><li>rs6744817</li>	2
Q4ZHG4	84624		<li>T->A at 438: in dbSNP:rs509648</li><li>E->Q at 463: in dbSNP:rs420137</li><li>Q->E at 1003: in dbSNP:rs370434</li><li>D->E at 1180: in dbSNP:rs420054</li><li>P->L at 1261: in dbSNP:rs3003174</li><li>Q->R at 1280: in dbSNP:rs2501176</li><li>K->T at 1498: in dbSNP:rs386360</li><li>T->A at 1568: in dbSNP:rs7763726</li>									<li>rs7763726</li><li>rs420054</li><li>rs386360</li><li>rs3003174</li><li>rs2501176</li><li>rs420137</li><li>rs509648</li><li>rs370434</li>	2
Q502W6	200403		<li>R->W at 181: in dbSNP:rs2305355</li><li>V->L at 677: in dbSNP:rs7601049</li><li>M->V at 885: in dbSNP:rs11889349</li><li>D->E at 1223: in dbSNP:rs17428626</li><li>K->R at 1245: in dbSNP:rs7587534</li><li>T->I at 1277: in dbSNP:rs2271038</li>									<li>rs7601049</li><li>rs2305355</li><li>rs2271038</li><li>rs17428626</li><li>rs7587534</li><li>rs11889349</li>	2
Q502X0			<li>E->K at 48: in dbSNP:rs3099950</li>									rs3099950	2
Q504Y0	221074		<li>S->G at 36: in dbSNP:rs10764176</li><li>T->M at 244: in dbSNP:rs7899328</li><li>I->V at 304: in dbSNP:rs2478568</li><li>F->L at 435: in dbSNP:rs11011935</li><li>P->T at 471: in a breast cancer sample; somatic mutation</li>									<li>rs10764176</li><li>rs7899328</li><li>rs11011935</li><li>rs2478568</li>	2
Q504Y3	152098		<li>L->Q at 202: in dbSNP:rs1563656</li>									rs1563656	2
Q52LG2	337959		<li>R->C at 26: in dbSNP:rs16986753</li><li>S->R at 74: in dbSNP:rs3804010</li>									<li>rs3804010</li><li>rs16986753</li>	2
Q52LW3	9411		<li>S->C at 552: in a breast cancer sample; somatic mutation</li><li>P->L at 1192: in dbSNP:rs11165091</li><li>G->D at 1255: in dbSNP:rs1999272</li>									<li>rs1999272</li><li>rs11165091</li>	2
Q52M58	283598		<li>R->W at 3: in dbSNP:rs17097718</li><li>V->A at 33: in dbSNP:rs4905757</li>									<li>rs17097718</li><li>rs4905757</li>	2
Q52M62			<li>T->A at 18: in dbSNP:rs3815685</li><li>T->M at 18: in dbSNP:rs11764</li><li>S->P at 126: in dbSNP:rs11765965</li><li>P->S at 157: in dbSNP:rs11769079</li><li>L->F at 206: in dbSNP:rs6974355</li>									<li>rs11769079</li><li>rs11764</li><li>rs11765965</li><li>rs6974355</li><li>rs3815685</li>	2
Q52M75			<li>R->C at 85: in dbSNP:rs17366761</li>									rs17366761	2
Q52WX2	388228		<li>R->H at 12: in dbSNP:rs35448675</li><li>K->E at 92: in an ovarian mucinous carcinoma sample; somatic mutation</li><li>N->T at 250: in dbSNP rsrs56072383</li><li>A->S at 261</li>									<li>rs56072383</li><li>rs35448675</li>	2
Q53EL6	27250		<li>V->I at 36: in dbSNP:rs7081726</li><li>S->Y at 48: in dbSNP:rs11548765</li><li>G->R at 120: in a breast cancer sample; somatic mutation</li>									<li>rs7081726</li><li>rs11548765</li>	2
Q53EL9	124925		<li>V->M at 300</li><li>A->V at 330</li><li>T->A at 546: in dbSNP:rs1976165</li><li>V->A at 592</li><li>Y->N at 736</li><li>L->V at 756</li><li>M->T at 806: in dbSNP:rs12941884</li>									<li>rs1976165</li><li>rs12941884</li>	2
Q53EP0	64778		<li>T->S at 179: in dbSNP:rs7652177</li><li>P->S at 927: in a breast cancer sample; somatic mutation</li><li>M->V at 1080: in dbSNP:rs2276806</li>									<li>rs2276806</li><li>rs7652177</li>	2
Q53EQ6			<li>I->M at 519: in dbSNP:rs10282929</li>									rs10282929	2
Q53EV4	10233		<li>N->H at 65: in dbSNP:rs2071072</li><li>R->L at 124: in dbSNP:rs2071073</li><li>V->E at 317: in dbSNP:rs1057077</li>									<li>rs2071073</li><li>rs2071072</li><li>rs1057077</li>	2
Q53F39	65258		<li>R->Q at 138: in dbSNP:rs11872520</li><li>V->M at 197: in dbSNP:rs35611363</li><li>A->P at 268: in dbSNP:rs662515</li><li>M->L at 336: in dbSNP:rs16976814</li>									<li>rs662515</li><li>rs16976814</li><li>rs11872520</li><li>rs35611363</li>	2
Q53FA7	9540		<li>M->K at 180: in a breast cancer sample; somatic mutation</li><li>E->K at 223: in dbSNP:rs35176319</li>									rs35176319	2
Q53FE4	84103		<li>G->E at 64: in dbSNP:rs13143848</li><li>S->P at 85: in dbSNP:rs13119384</li><li>E->K at 91: in dbSNP:rs17029087</li>									<li>rs17029087</li><li>rs13143848</li><li>rs13119384</li>	2
Q53FT3	51501		<li>P->A at 47: in dbSNP:rs11539213</li>									rs11539213	2
Q53FZ2	6296		<li>L->P at 100: in dbSNP:rs5713</li><li>D->H at 270: in dbSNP:rs13306603</li><li>P->T at 308: in dbSNP:rs7196188</li><li>K->N at 367: in dbSNP:rs5716</li>									<li>rs7196188</li><li>rs5716</li><li>rs13306603</li><li>rs5713</li>	2
Q53G44	10964		<li>H->R at 73: in dbSNP:rs273259</li><li>A->T at 104: in dbSNP:rs34932081</li><li>R->C at 148: in dbSNP:rs273258</li><li>V->I at 217: in dbSNP:rs3820093</li><li>I->T at 235: in dbSNP:rs987495</li><li>R->C at 296: in dbSNP:rs1981071</li><li>M->I at 390: in dbSNP:rs35466823</li>									<li>rs273259</li><li>rs273258</li><li>rs35466823</li><li>rs1981071</li><li>rs987495</li><li>rs34932081</li><li>rs3820093</li>	2
Q53G59	59349		<li>P->L at 72: in dbSNP:rs12569087</li>									rs12569087	2
Q53GD3	80736		<li>R->L at 6: in dbSNP:rs2075798</li><li>D->V at 123: in dbSNP:rs12661281</li><li>G->E at 128: in dbSNP:rs17856465</li><li>I->V at 187: in dbSNP:rs2242665</li><li>V->M at 326: in dbSNP:rs644827</li><li>A->T at 347: in a colorectal cancer sample; somatic mutation</li><li>T->M at 411: in a colorectal cancer sample; somatic mutation</li><li>R->C at 493: in dbSNP:rs6915800</li>									<li>rs12661281</li><li>rs17856465</li><li>rs2242665</li><li>rs2075798</li><li>rs644827</li><li>rs6915800</li>	2
Q53GG5	27295		<li>V->M at 127: in dbSNP:rs11944325</li>									rs11944325	2
Q53GI3	84124		<li>T->M at 325: in dbSNP:rs3735454</li>									rs3735454	2
Q53GL7	84875		<li>I->V at 249: in dbSNP:rs11136344</li><li>L->P at 395: in dbSNP:rs11136343</li><li>V->A at 630: in dbSNP:rs11544989</li>									<li>rs11544989</li><li>rs11136344</li><li>rs11136343</li>	2
Q53GS7	2733		<li>G->D at 130: in dbSNP:rs17852725</li><li>T->TPFQ at 144: in LCCS1; allele Fin</li><li>I->V at 243: in dbSNP:rs2275260</li><li>R->H at 569: in LCCS1, MIM: 253310</li><li>R->Q at 590: in dbSNP:rs17856852, MIM: 253310</li><li>V->M at 617: in LAAHD, MIM: 611890</li><li>I->T at 684: in LAAHD, MIM: 611890</li>								<li>Lethal congenital contracture syndrome type 1 (LCCS1) [MIM:253310]</li><li>Lethal arthrogryposis with anterior horn cell disease (LAAHD) [MIM:611890]</li>	<li>rs17856852</li><li>rs17852725</li><li>rs2275260</li>	2
Q53H12	55750		<li>V->M at 3: in dbSNP:rs10262855</li>									rs10262855	2
Q53H54	55039		<li>W->R at 28: in dbSNP:rs3812475</li>									rs3812475	2
Q53H76	51365		<li>S->I at 23: in dbSNP:rs11929241</li><li>R->H at 110</li><li>S->N at 284: in dbSNP:rs2692622</li>									<li>rs2692622</li><li>rs11929241</li>	2
Q53H96	65263		<li>R->Q at 57: in dbSNP:rs11549789</li><li>V->M at 105: in dbSNP:rs2242089</li><li>N->K at 150: in dbSNP:rs2242090</li>									<li>rs2242090</li><li>rs2242089</li><li>rs11549789</li>	2
Q53HC0	80212		<li>S->C at 70: in dbSNP:rs11057401</li><li>A->T at 253: in dbSNP:rs35935939</li><li>R->H at 281: in dbSNP:rs17886730</li>									<li>rs17886730</li><li>rs35935939</li><li>rs11057401</li>	2
Q53HC5	55295		<li>V->M at 542: in dbSNP:rs17852384</li>									rs17852384	2
Q53QW1	165100		<li>V->L at 11: in dbSNP:rs16828251</li><li>Q->R at 79: in dbSNP:rs16828254</li><li>E->K at 168: in dbSNP:rs16828257</li><li>S->P at 261: in dbSNP:rs10933378</li>									<li>rs16828257</li><li>rs16828254</li><li>rs16828251</li><li>rs10933378</li>	2
Q53R12	79853		<li>A->V at 27: in dbSNP:rs7574414</li>									rs7574414	2
Q53R41	79675		<li>E->Q at 384: in dbSNP:rs12618227</li><li>C->G at 446: in dbSNP:rs35106223</li><li>M->V at 467: in dbSNP:rs2253680</li>									<li>rs2253680</li><li>rs35106223</li><li>rs12618227</li>	2
Q53RD9	129804		<li>V->M at 119: in dbSNP:rs35586251</li>									rs35586251	2
Q53RE8	51239		<li>A->T at 113: in dbSNP:rs17852947</li>									rs17852947	2
Q53S58	80775		<li>G->A at 29: in dbSNP:rs11684353</li><li>I->V at 32: in dbSNP:rs13011768</li><li>D->E at 267: in dbSNP:rs1983406</li>									<li>rs13011768</li><li>rs1983406</li><li>rs11684353</li>	2
Q53S99	56918		<li>E->Q at 104: in dbSNP:rs2138402</li>									rs2138402	2
Q53SZ7	339779		<li>R->G at 194: in dbSNP:rs17855664</li><li>R->C at 222: in dbSNP:rs3739097</li>									<li>rs17855664</li><li>rs3739097</li>	2
Q53T59	64342		<li>V->M at 260: in dbSNP:rs2305458</li><li>G->R at 273: in dbSNP:rs35589938</li><li>P->R at 348: in dbSNP:rs35579164</li><li>A->T at 388: in dbSNP:rs3732149</li>									<li>rs2305458</li><li>rs35589938</li><li>rs3732149</li><li>rs35579164</li>	2
Q53T94	9014		<li>A->S at 6: in dbSNP:rs2303914</li><li>V->I at 282: in dbSNP:rs396190</li><li>T->A at 351: in dbSNP:rs1054565</li><li>E->D at 462: in dbSNP:rs1820965</li><li>T->M at 487: in dbSNP:rs16867245</li>									<li>rs1820965</li><li>rs2303914</li><li>rs1054565</li><li>rs16867245</li><li>rs396190</li>	2
Q53TN4	79901		<li>M->T at 156: in dbSNP:rs16859487</li><li>R->H at 226: in HFE</li><li>S->N at 266: in dbSNP:rs10455</li>							<li>Q9GL41</li><li>Q9GL42</li><li>Q9GL43</li><li>Q9GKZ0</li><li>P60018</li><li>Q30201</li>		<li>rs10455</li><li>rs16859487</li>	2
Q53TQ3	54891		<li>A->V at 358: in dbSNP:rs2909111</li>									rs2909111	2
Q53TS8	151254		<li>K->M at 123: in a colorectal cancer sample; somatic mutation</li><li>H->Q at 376: in dbSNP:rs10804117</li>									rs10804117	2
Q562F6	151246		<li>G->D at 9: in dbSNP:rs1036533</li><li>I->V at 496: in dbSNP:rs17448235</li>									<li>rs1036533</li><li>rs17448235</li>	2
Q567U6	54520		<li>R->C at 179: in dbSNP:rs33975708</li><li>R->C at 213: in dbSNP:rs34095554</li><li>P->L at 228: in dbSNP:rs17512204</li><li>H->R at 315: in a colorectal cancer sample; somatic mutation</li><li>Y->H at 465: in dbSNP:rs17047557</li>									<li>rs17047557</li><li>rs33975708</li><li>rs17512204</li><li>rs34095554</li>	2
Q569K4	151126		<li>S->G at 242: in dbSNP:rs2271761</li>									rs2271761	2
Q569K6	550631		<li>P->L at 191: in dbSNP:rs12167903</li><li>S->A at 587: in dbSNP:rs2015035</li>									<li>rs12167903</li><li>rs2015035</li>	2
Q56NI9	157570		<li>A->V at 80: in dbSNP:rs4732748</li><li>W->G at 539: in RBS, MIM: 268300</li>								Roberts syndrome (RBS) [MIM:268300]	rs4732748	2
Q56P03	55837		<li>Q->E at 168: in dbSNP:rs17856038</li>									rs17856038	2
Q56P42	152138		<li>Q->R at 81: in dbSNP:rs293833</li>									rs293833	2
Q56UN5	80122		<li>T->I at 438: in dbSNP:rs16831235</li><li>I->M at 500: in a breast pleomorphic lobular carcinoma sample; somatic mutation</li><li>E->Q at 676: in dbSNP:rs1112542</li><li>E->G at 812: in dbSNP:rs3905317</li>									<li>rs1112542</li><li>rs3905317</li><li>rs16831235</li>	2
Q56VL3	132299		<li>R->Q at 44: in dbSNP:rs7676916</li>									rs7676916	2
Q580R0	29798		<li>P->L at 203: in dbSNP:rs1056219</li>									rs1056219	2
Q587I9	84826		<li>R->G at 38: in dbSNP:rs10206957</li>									rs10206957	2
Q587J8	154288		<li>E->Q at 97: in dbSNP:rs564533</li><li>A->G at 201: in dbSNP:rs561930</li>									<li>rs561930</li><li>rs564533</li>	2
Q58DX5	254827		<li>G->S at 68: in dbSNP:rs9823911</li><li>I->M at 128: in dbSNP:rs9836841</li><li>M->T at 194: in dbSNP:rs4371530</li><li>S->P at 385: in dbSNP:rs6802937</li><li>R->P at 622: in dbSNP:rs9866564</li><li>S->L at 677: in dbSNP:rs9826737</li>									<li>rs4371530</li><li>rs6802937</li><li>rs9866564</li><li>rs9823911</li><li>rs9836841</li><li>rs9826737</li>	2
Q58EX7	25894		<li>T->I at 412: in dbSNP:rs11860295</li><li>D->G at 525: in dbSNP:rs8044843</li><li>R->H at 830: in dbSNP:rs3868142</li><li>S->T at 1090: in dbSNP:rs17680862</li>									<li>rs3868142</li><li>rs8044843</li><li>rs11860295</li><li>rs17680862</li>	2
Q58F21	676		<li>S->F at 2: in dbSNP:rs55806733</li><li>R->Q at 6: in dbSNP:rs56273490</li><li>Q->K at 62: in dbSNP:rs10783071</li><li>A->V at 89: in a gastric adenocarcinoma sample; somatic mutation</li><li>K->N at 238: in dbSNP:rs1156281</li><li>H->Y at 288: in a lung neuroendocrine carcinoma sample; somatic mutation</li><li>K->T at 336: in dbSNP:rs1064567</li><li>E->K at 357: in dbSNP:rs34674879</li><li>N->K at 410: in dbSNP:rs3088232</li><li>P->A at 542: in dbSNP:rs55912588</li><li>R->Q at 605: in dbSNP:rs35327986</li><li>P->L at 696: in dbSNP:rs10747493</li>									<li>rs1156281</li><li>rs55912588</li><li>rs10747493</li><li>rs10783071</li><li>rs1064567</li><li>rs3088232</li><li>rs34674879</li><li>rs56273490</li><li>rs35327986</li><li>rs55806733</li>	2
Q58G82	401135		<li>T->M at 97: in dbSNP:rs3819257</li>									rs3819257	2
Q58WW2	55827		<li>V->A at 547: in dbSNP:rs11558511</li>									rs11558511	2
Q5BIV9	503542		<li>T->M at 7: in dbSNP:rs2492666</li>									rs2492666	2
Q5BJE1	374864		<li>A->T at 42: in dbSNP:rs12606658</li><li>V->E at 465: in dbSNP:rs9965081</li><li>L->R at 600: in dbSNP:rs457896</li><li>D->N at 601: in dbSNP:rs466113</li>									<li>rs9965081</li><li>rs457896</li><li>rs466113</li><li>rs12606658</li>	2
Q5BJF6	4957		<li>T->S at 710: in dbSNP:rs16930426</li>									rs16930426	2
Q5BJH7	90522		<li>P->S at 56: in dbSNP:rs11556992</li>									rs11556992	2
Q5BKX6			<li>P->L at 277: in dbSNP:rs753778</li><li>N->D at 718: in dbSNP:rs3739238</li>									<li>rs753778</li><li>rs3739238</li>	2
Q5BVD1	79669		<li>I->V at 111: in dbSNP:rs16859190</li><li>S->G at 144: in dbSNP:rs340167</li>									<li>rs340167</li><li>rs16859190</li>	2
Q5C9Z4	64434		<li>H->P at 122: in dbSNP:rs6952214</li><li>M->V at 723: in dbSNP:rs12919</li><li>R->H at 779: in dbSNP:rs2302445</li><li>V->L at 804: in dbSNP:rs2302443</li><li>V->M at 812: in dbSNP:rs12919</li>									<li>rs6952214</li><li>rs2302443</li><li>rs12919</li><li>rs2302445</li>	2
Q5CZC0			<li>M->V at 104: in dbSNP:rs9808218</li>									rs9808218	2
Q5D0E6	55152		<li>R->Q at 299: in dbSNP:rs3087866</li>									rs3087866	2
Q5D1E8	80149		<li>V->M at 240: in dbSNP:rs16824179</li><li>G->D at 547: in dbSNP:rs17849897</li>									<li>rs17849897</li><li>rs16824179</li>	2
Q5D862	388698		<li>L->F at 41: in dbSNP:rs3818831</li><li>R->Q at 107: in dbSNP:rs2282304</li><li>G->E at 137: in dbSNP:rs6587667</li><li>R->Q at 276: in dbSNP:rs2282303</li><li>C->S at 298: in dbSNP:rs2282302</li><li>E->K at 723: in dbSNP:rs16842865</li><li>Y->S at 881: in dbSNP:rs12411129</li><li>H->R at 1249: in dbSNP:rs16833974</li><li>E->D at 1992: in dbSNP:rs1858484</li><li>Q->H at 2239: in dbSNP:rs12736606</li>									<li>rs16842865</li><li>rs12736606</li><li>rs2282302</li><li>rs2282303</li><li>rs2282304</li><li>rs3818831</li><li>rs6587667</li><li>rs1858484</li><li>rs16833974</li><li>rs12411129</li>	2
Q5DID0	89766		<li>V->L at 173</li><li>N->D at 274: in dbSNP rsrs17114359</li><li>N->H at 274</li><li>R->Q at 447</li><li>M->T at 559: in dbSNP rsrs220126</li><li>I->T at 639: in dbSNP rsrs220129</li><li>T->P at 698: in dbSNP rsrs220130</li><li>V->I at 850: in dbSNP rsrs220146</li><li>S->N at 1027</li><li>G->S at 1068</li><li>E->K at 1115</li><li>D->N at 1208: in dbSNP rsrs220159</li><li>N->H at 1309: in dbSNP rsrs3819142</li>									<li>rs220130</li><li>rs220129</li><li>rs220159</li><li>rs220146</li><li>rs220126</li><li>rs17114359</li><li>rs3819142</li>	2
Q5DX21	152404		<li>T->P at 39: in dbSNP:rs2903250</li><li>E->D at 333: in dbSNP:rs36052974</li>									<li>rs2903250</li><li>rs36052974</li>	2
Q5EG05	114769		<li>R->S at 33: in dbSNP:rs35966314</li><li>Q->K at 37: in dbSNP:rs1042744</li><li>A->D at 56: in dbSNP:rs34534919</li><li>N->I at 167: in dbSNP:rs542571</li>									<li>rs35966314</li><li>rs542571</li><li>rs1042744</li><li>rs34534919</li>	2
Q5F1R6	134218		<li>D->N at 214: in a breast cancer sample; somatic mutation</li>										2
Q5FBB7	151648		<li>V->A at 171: in dbSNP:rs6806241</li><li>Q->P at 322: in dbSNP:rs9868701</li>									<li>rs9868701</li><li>rs6806241</li>	2
Q5FWE3	285368		<li>Q->E at 138: in dbSNP:rs279601</li><li>L->I at 860: in dbSNP:rs2279794</li>									<li>rs279601</li><li>rs2279794</li>	2
Q5FWF4	84083		<li>E->K at 541: in dbSNP:rs935615</li><li>R->Q at 546: in dbSNP:rs7608121</li>									<li>rs935615</li><li>rs7608121</li>	2
Q5FWF6	285989		<li>T->A at 77: in dbSNP:rs6962772</li>									rs6962772	2
Q5FWF7	554251		<li>T->I at 16: in dbSNP:rs12614904</li>									rs12614904	2
Q5FYB0	79642		<li>S->R at 565: in dbSNP:rs17046588</li>									rs17046588	2
Q5GAN3	440163		<li>S->A at 139: in dbSNP:rs2277847</li>									rs2277847	2
Q5GAN6	338879		<li>S->N at 131: in dbSNP:rs2067648</li>									rs2067648	2
Q5GFL6	340706		<li>A->T at 9: in dbSNP:rs9664945</li><li>E->G at 131: in dbSNP:rs597371</li><li>L->R at 137: in a colorectal cancer sample; somatic mutation</li>									<li>rs9664945</li><li>rs597371</li>	2
Q5GH77	150165		<li>T->M at 143: in dbSNP:rs5748648</li><li>P->L at 232: in dbSNP:rs9605146</li><li>F->L at 255: in dbSNP:rs5748623</li><li>H->N at 442: in dbSNP:rs5748622</li>									<li>rs5748622</li><li>rs9605146</li><li>rs5748648</li><li>rs5748623</li>	2
Q5GJ75	388121		<li>A->T at 38: in dbSNP:rs17647084</li>									rs17647084	2
Q5H8A3	129521		<li>P->S at 6: in dbSNP:rs13411940</li>									rs13411940	2
Q5H8A4	54872		<li>R->H at 458: in dbSNP:rs13115344</li><li>C->R at 610: in dbSNP:rs7666425</li><li>V->I at 699: in dbSNP:rs13114026</li><li>F->S at 932: in dbSNP:rs1127410</li>									<li>rs1127410</li><li>rs13115344</li><li>rs7666425</li><li>rs13114026</li>	2
Q5H8C1	158326		<li>V->L at 439: in dbSNP:rs2779500</li><li>I->V at 499: in dbSNP:rs1353223</li><li>S->Y at 803: in dbSNP:rs7023244</li><li>L->V at 863: in dbSNP:rs7041710</li><li>S->R at 1202: in dbSNP:rs16932300</li><li>D->E at 1273: in dbSNP:rs7025814</li><li>V->M at 1502: in dbSNP:rs10961700</li><li>N->I at 1576: in dbSNP:rs2101770</li><li>Q->P at 2143: in dbSNP:rs10961689</li><li>V->G at 2174: in dbSNP:rs17856912</li>									<li>rs17856912</li><li>rs7023244</li><li>rs10961689</li><li>rs2779500</li><li>rs1353223</li><li>rs7041710</li><li>rs7025814</li><li>rs2101770</li><li>rs10961700</li><li>rs16932300</li>	2
Q5H9K5	84460		<li>R->K at 214: in dbSNP:rs17282855</li>									rs17282855	2
Q5H9L4	54457		<li>L->P at 34: in dbSNP:rs5951328</li><li>E->K at 61</li><li>S->G at 308: in dbSNP:rs35899692</li><li>Missing at 350-351</li><li>R->H at 458: in dbSNP:rs41310729</li>									<li>rs5951328</li><li>rs41310729</li><li>rs35899692</li>	2
Q5H9R4			<li>R->G at 188: in dbSNP:rs5951332</li>									rs5951332	2
Q5H9S7	80067		<li>H->Q at 185: in dbSNP:rs3731984</li>									rs3731984	2
Q5H9T9	84075		<li>T->R at 262: in a breast cancer sample; somatic mutation</li><li>Q->K at 776: in a breast cancer sample; somatic mutation</li><li>S->L at 787: in a breast cancer sample; somatic mutation</li>										2
Q5HY64	442444		<li>N->T at 924: in dbSNP:rs1995914</li>									rs1995914	2
Q5HY92	55137		<li>S->L at 96: in dbSNP:rs2231902</li><li>R->C at 448: in dbSNP:rs2231904</li><li>K->R at 565: in dbSNP:rs2231905</li>									<li>rs2231902</li><li>rs2231904</li><li>rs2231905</li>	2
Q5HY98	90321		<li>C->Y at 95: in dbSNP:rs12462608</li>									rs12462608	2
Q5HYA8	91147		<li>Q->P at 376: in MKS3, MIM: 607361</li><li>Y->C at 513: in JBTS6, MIM: 610688</li><li>G->E at 545: in JBTS6, MIM: 610688</li><li>V->I at 604: in dbSNP:rs3134031, MIM: 610688</li>							Q5HYA8	<li>Joubert syndrome type 6 (JBTS6) [MIM:610688]</li><li>Meckel syndrome type 3 (MKS3) [MIM:607361]</li>	rs3134031	2
Q5HYI7	345778		<li>S->R at 238: in dbSNP:rs9293796</li>									rs9293796	2
Q5HYK3	84274		<li>A->T at 152: in dbSNP:rs3742049</li>									rs3742049	2
Q5HYK9	63934		<li>P->L at 134: in dbSNP:rs35914474</li><li>K->R at 260: in dbSNP:rs3760849</li><li>T->A at 540: in dbSNP:rs12610019</li>									<li>rs12610019</li><li>rs3760849</li><li>rs35914474</li>	2
Q5HYW2	340527		<li>T->I at 535: in dbSNP:rs7061150</li>									rs7061150	2
Q5HYW3	340526		<li>S->R at 420: in dbSNP:rs6624595</li>									rs6624595	2
Q5I0G3	130752		<li>E->D at 510: in dbSNP:rs2287631</li><li>T->A at 515: in dbSNP:rs2287632</li>									<li>rs2287632</li><li>rs2287631</li>	2
Q5I7T1	144245		<li>G->A at 84: in dbSNP:rs6582584</li><li>I->V at 446: in some patients with drug-induced cardiac repolarization defects; exerts a greater protective effect, relative to wild-type, against drug blockage of KCNH2 potassium channel</li>							<li>Q9TSZ3</li><li>Q9PT84</li><li>O08703</li><li>Q12809</li><li>Q8WNY2</li><li>Q9TUI4</li>		rs6582584	2
Q5IJ48	286204		<li>P->L at 46: in a patient with Leber congenital amaurosis; pathogenicity not very likely</li><li>T->N at 90: in dbSNP:rs2808415</li><li>V->L at 97: in a patient with Leber congenital amaurosis; pathogenicity not very likely</li><li>P->L at 116: in a patient with Leber congenital amaurosis; pathogenicity not very likely</li><li>M->T at 145: in dbSNP:rs1105223</li><li>G->A at 159: in dbSNP:rs1105222</li><li>E->D at 187: in a patient with Leber congenital amaurosis; pathogenicity not very likely</li><li>A->T at 351: in RP; pathogenicity not very likely but cannot completely be ruled out, MIM: 268000</li><li>R->Q at 534: in RP; detected in a patient with autosomal dominant RP but the patient has a causative mutation in one of the known autosomal dominant RP gene, MIM: 268000</li><li>R->W at 610, MIM: 268000</li><li>H->Q at 746, MIM: 268000</li><li>T->M at 1110, MIM: 268000</li>								Retinitis pigmentosa (RP) [MIM:268000]	<li>rs1105222</li><li>rs1105223</li><li>rs2808415</li>	2
Q5J8M3	51234		<li>P->T at 98: in dbSNP:rs11544437</li>									rs11544437	2
Q5JNZ3	282890		<li>R->C at 486: in dbSNP:rs9295783</li><li>K->Q at 511: in dbSNP:rs6456880</li>									<li>rs6456880</li><li>rs9295783</li>	2
Q5JPB2	128611		<li>G->R at 845: in dbSNP:rs181984</li><li>S->P at 1513: in dbSNP:rs259956</li>									<li>rs181984</li><li>rs259956</li>	2
Q5JPE7	283820		<li>D->N at 490: in dbSNP:rs17435353</li><li>V->M at 493: in dbSNP:rs17425492</li><li>V->M at 580: in dbSNP:rs15984</li><li>N->K at 726: in dbSNP:rs370986</li>									<li>rs17435353</li><li>rs17425492</li><li>rs370986</li><li>rs15984</li>	2
Q5JPH6	124454		<li>S->G at 457: in dbSNP:rs6497671</li>									rs6497671	2
Q5JPI9	399818		<li>R->Q at 67: in dbSNP:rs4347339</li>									rs4347339	2
Q5JQC9	8852		<li>H->R at 233: in dbSNP:rs17174078</li><li>A->G at 673: in dbSNP:rs12012704</li>									<li>rs12012704</li><li>rs17174078</li>	2
Q5JQD4			<li>T->I at 28: in dbSNP:rs5953365</li>									rs5953365	2
Q5JQF7	729583		<li>E->G at 41: in dbSNP:rs2071790</li>									rs2071790	2
Q5JQS5	127623		<li>V->M at 198: in dbSNP:rs6695302</li><li>G->D at 223: in dbSNP:rs4925663</li><li>T->I at 293: in dbSNP:rs12065526</li><li>D->G at 300: in dbSNP:rs12070953</li>									<li>rs12065526</li><li>rs4925663</li><li>rs6695302</li><li>rs12070953</li>	2
Q5JR12	333926		<li>L->F at 213: in dbSNP:rs34611728</li><li>V->I at 236: in dbSNP:rs10857971</li>									<li>rs34611728</li><li>rs10857971</li>	2
Q5JRA6	375056		<li>K->E at 482: in dbSNP:rs2936053</li><li>K->R at 605: in dbSNP:rs2936052</li><li>E->G at 881: in dbSNP:rs2936051</li><li>G->C at 1659: in dbSNP:rs17857325</li><li>K->E at 1723: in dbSNP:rs17854428</li>									<li>rs2936051</li><li>rs17857325</li><li>rs2936053</li><li>rs2936052</li><li>rs17854428</li>	2
Q5JRM2	347487		<li>P->L at 233: in dbSNP:rs5955139</li>									rs5955139	2
Q5JRS4	441911		<li>Q->R at 235: in dbSNP:rs11265165</li>									rs11265165	2
Q5JRV8	55026		<li>P->Q at 345: in dbSNP:rs17854410</li>									rs17854410	2
Q5JS37	387921		<li>L->R at 221: in dbSNP:rs9603498</li>									rs9603498	2
Q5JSH3	54521		<li>A->T at 289: in dbSNP:rs17271416</li><li>T->A at 296: in dbSNP:rs17855531</li>									<li>rs17271416</li><li>rs17855531</li>	2
Q5JSL3	139818		<li>I->F at 813: in dbSNP:rs16995229</li>									rs16995229	2
Q5JSP0	89846		<li>V->I at 275: in dbSNP:rs3802384</li>									rs3802384	2
Q5JSS6	644890		<li>K->T at 9: in dbSNP:rs4750568</li>									rs4750568	2
Q5JST6	80258		<li>N->S at 31: in dbSNP:rs17146914</li><li>E->K at 208: in dbSNP:rs7062352</li><li>S->Y at 430: in dbSNP:rs2208592</li><li>E->Q at 507: in dbSNP:rs3747354</li>									<li>rs17146914</li><li>rs3747354</li><li>rs2208592</li><li>rs7062352</li>	2
Q5JSZ5			<li>S->T at 936: in dbSNP:rs10736851</li><li>L->P at 981: in dbSNP:rs10751478</li>									<li>rs10736851</li><li>rs10751478</li>	2
Q5JT82	128209		<li>I->N at 35: in dbSNP:rs11210969</li><li>S->T at 57: in dbSNP:rs2429051</li><li>Q->H at 80: in dbSNP:rs6656945</li><li>N->S at 156: in dbSNP:rs2485652</li>									<li>rs11210969</li><li>rs2429051</li><li>rs2485652</li><li>rs6656945</li>	2
Q5JTC6	139285		<li>F->L at 159: in dbSNP:rs34677493</li><li>A->S at 278: in dbSNP:rs35718712</li><li>K->N at 292: in WT</li>									<li>rs34677493</li><li>rs35718712</li>	2
Q5JTN6	401551		<li>H->R at 172: in dbSNP:rs2274970</li><li>A->G at 193: in dbSNP:rs10760381</li>									<li>rs10760381</li><li>rs2274970</li>	2
Q5JTV8	26092		<li>M->T at 146: in dbSNP:rs1281378</li><li>V->I at 190: in a breast cancer sample; somatic mutation</li><li>P->R at 276: in dbSNP:rs609521</li><li>Q->H at 293: in dbSNP:rs17279712</li>									<li>rs1281378</li><li>rs17279712</li><li>rs609521</li>	2
Q5JTZ9	57505		<li>I->V at 339: in dbSNP:rs324136</li><li>A->D at 484: in dbSNP:rs495294</li>									<li>rs324136</li><li>rs495294</li>	2
Q5JU00	202500		<li>P->L at 35: in dbSNP:rs324146</li><li>H->R at 53: in dbSNP:rs17853373</li><li>F->S at 261: in dbSNP:rs2297336</li>									<li>rs2297336</li><li>rs17853373</li><li>rs324146</li>	2
Q5JU67	286207		<li>Y->S at 483: in dbSNP:rs497632</li>									rs497632	2
Q5JUK2	402381		<li>Q->R at 37: in dbSNP:rs471525</li><li>S->P at 269: in dbSNP:rs3119932</li>									<li>rs471525</li><li>rs3119932</li>	2
Q5JUK9	139793		<li>N->D at 35: in dbSNP:rs4826381</li><li>G->S at 53: in dbSNP:rs2296807</li>									<li>rs2296807</li><li>rs4826381</li>	2
Q5JV21			<li>K->E at 74: in dbSNP:rs997769</li><li>K->T at 74: in dbSNP:rs997389</li>									<li>rs997769</li><li>rs997389</li>	2
Q5JVG2	83744		<li>G->D at 502: in dbSNP:rs3739602</li>									rs3739602	2
Q5JVL4	114327		<li>P->T at 77: in EJM1; associated with H-221; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E, MIM: 254770</li><li>R->W at 159: no effect on cell death; binds to CACNA1E; dbSNP:rs3804506, MIM: 254770</li><li>I->V at 174: in JAE, MIM: 607631</li><li>R->H at 182: no effect on cell death; binds to CACNA1E; dbSNP:rs3804505, MIM: 607631</li><li>D->N at 210: in EJM1; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E, MIM: 254770</li><li>R->H at 221: in EJM1; associated with T-77; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E, MIM: 254770</li><li>F->L at 229: in EJM1; uncertain pathological significance; reduces substantially the cell death effect; reduces significantly the calcium influx; binds to CACNA1E, MIM: 254770</li><li>D->Y at 253: in EJM1; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E, MIM: 254770</li><li>C->Y at 259: in JAE, MIM: 607631</li><li>R->I at 285: in dbSNP:rs17851771, MIM: 607631</li><li>R->H at 294: in dbSNP:rs1570624, MIM: 607631</li><li>R->W at 353: in EJM1, MIM: 254770</li><li>E->K at 357: in dbSNP:rs505760, MIM: 254770</li><li>A->S at 394: in IGE, MIM: 600669</li><li>M->T at 448: in dbSNP:rs1266787, MIM: 600669</li><li>I->L at 619: no effect on cell death; binds to CACNA1E; dbSNP:rs17851770, MIM: 600669</li>	cell death	GO:0008219					<li>Q02343</li><li>Q15878</li>	<li>Idiopathic generalized epilepsy (IGE) [MIM:600669]</li><li>Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770]</li><li>Juvenile absence epilepsy (JAE) [MIM:607631]</li>	<li>rs505760</li><li>rs1570624</li><li>rs3804506</li><li>rs17851770</li><li>rs3804505</li><li>rs17851771</li><li>rs1266787</li>	2
Q5JVX7	400757		<li>E->G at 85: in dbSNP:rs2273682</li><li>V->I at 189: in dbSNP:rs11208997</li>									<li>rs2273682</li><li>rs11208997</li>	2
Q5JWF2	2778		<li>A->D at 436: in GNAS hyperfunction, MIM: 139320</li><li>A->APADPDSGAAPD at 437: in GNAS hyperfunction, MIM: 139320</li><li>P->R at 459: in GNAS hyperfunction, MIM: 139320</li>							<li>Q5JWF2</li><li>P84996</li><li>P63093</li><li>P63092</li><li>P29797</li><li>P63091</li><li>P16052</li><li>O18979</li><li>P04896</li><li>Q8R4A8</li><li>O95467</li>	GNAS hyperfunction [MIM:139320]		2
Q5JWR5	23033		<li>R->Q at 596: in dbSNP:rs4706980</li><li>D->H at 1155: in a breast cancer sample; somatic mutation</li><li>Q->L at 1781: in dbSNP:rs9444039</li>									<li>rs4706980</li><li>rs9444039</li>	2
Q5JX69	388799		<li>Q->K at 74: in dbSNP:rs3209183</li><li>E->A at 129: in dbSNP:rs2296129</li>									<li>rs3209183</li><li>rs2296129</li>	2
Q5JX71	200232		<li>V->A at 66: in dbSNP:rs707554</li><li>L->F at 95: in dbSNP:rs1054343</li><li>M->K at 117: in dbSNP:rs1054349</li><li>R->G at 135: in dbSNP:rs1054358</li><li>R->K at 146: in dbSNP:rs1054361</li>									<li>rs1054343</li><li>rs707554</li><li>rs1054361</li><li>rs1054358</li><li>rs1054349</li>	2
Q5JXA9	284759		<li>G->E at 153: in dbSNP:rs6033876</li><li>E->A at 215: in dbSNP:rs6042507</li><li>L->F at 304: in dbSNP:rs8119290</li>									<li>rs6033876</li><li>rs6042507</li><li>rs8119290</li>	2
Q5JXC2	60672		<li>K->N at 99: in dbSNP rsrs11553925</li><li>P->S at 142: in dbSNP rsrs11588712</li><li>E->K at 167: in dbSNP rsrs2295283</li>									<li>rs11553925</li><li>rs2295283</li><li>rs11588712</li>	2
Q5JXM2	728464		<li>L->F at 281: in dbSNP:rs2334321</li>									rs2334321	2
Q5JY77	9737		<li>A->G at 315: in dbSNP:rs17339512</li><li>I->V at 779: in dbSNP:rs17292748</li><li>P->S at 1093: in dbSNP:rs2235804</li>									<li>rs2235804</li><li>rs17339512</li><li>rs17292748</li>	2
Q5JYT7	85449		<li>K->N at 339: in dbSNP:rs1205434</li><li>P->L at 415: in dbSNP:rs6024235</li><li>A->V at 633: in dbSNP:rs16987188</li><li>E->K at 940: in dbSNP:rs760998</li><li>R->W at 1045: in dbSNP:rs3746471</li>									<li>rs16987188</li><li>rs3746471</li><li>rs760998</li><li>rs1205434</li><li>rs6024235</li>	2
Q5JZY3	284656		<li>R->H at 150: in a gastric adenocarcinoma sample; somatic mutation</li><li>T->K at 220: in dbSNP rsrs56276182</li><li>F->I at 281: in dbSNP rsrs4653328</li><li>L->P at 630</li><li>H->R at 775: in a breast infiltrating ductal carcinoma sample; somatic mutation</li><li>A->T at 956</li>									<li>rs4653328</li><li>rs56276182</li>	2
Q5K131	574028		<li>S->F at 9: in dbSNP:rs12580153</li>									rs12580153	2
Q5K4L6	11000		<li>G->A at 110: in dbSNP:rs34527123</li><li>R->H at 439: in dbSNP:rs35102232</li>									<li>rs34527123</li><li>rs35102232</li>	2
Q5K651	54809		<li>I->T at 143: in dbSNP:rs6969691</li><li>N->S at 449: in dbSNP:rs10239435</li><li>V->L at 549: in dbSNP:rs10279499</li><li>K->E at 1495: in NFTC; loss of punctate cytoplasmic expression, MIM: 610455</li>								Normophosphatemic familial tumoral calcinosis (NFTC) [MIM:610455]	<li>rs6969691</li><li>rs10279499</li><li>rs10239435</li>	2
Q5KU26	81035		<li>K->E at 91: in dbSNP:rs17855029</li><li>I->V at 487: in dbSNP:rs8098850</li><li>P->S at 522: in dbSNP:rs2305025</li><li>G->S at 606: in dbSNP:rs2305027</li>									<li>rs2305025</li><li>rs2305027</li><li>rs8098850</li><li>rs17855029</li>	2
Q5M775	92521		<li>S->R at 274: in dbSNP:rs9908032</li><li>M->L at 293: in dbSNP:rs2703806</li><li>D->N at 769: in dbSNP:rs35835131</li>									<li>rs35835131</li><li>rs2703806</li><li>rs9908032</li>	2
Q5M9N0	339965		<li>E->D at 232: in dbSNP:rs17001889</li><li>I->V at 297: in dbSNP:rs17001885</li>									<li>rs17001889</li><li>rs17001885</li>	2
Q5M9Q1			<li>Y->C at 96: in dbSNP:rs12000</li><li>T->N at 152: in dbSNP:rs1635</li><li>H->Y at 162: in dbSNP:rs9461446</li><li>G->E at 398: in dbSNP:rs1679709</li>									<li>rs1679709</li><li>rs9461446</li><li>rs1635</li><li>rs12000</li>	2
Q5MAI5	344387		<li>S->P at 38: in dbSNP rsrs35947084</li><li>R->H at 53: in dbSNP rsrs35454041</li><li>H->Y at 118: in dbSNP:rs6731369</li><li>F->C at 228: in dbSNP rsrs56353587</li><li>S->Y at 288: in dbSNP:rs34819676</li><li>R->C at 307: in dbSNP rsrs56330730</li>									<li>rs6731369</li><li>rs34819676</li><li>rs35454041</li><li>rs56330730</li><li>rs35947084</li><li>rs56353587</li>	2
Q5MCW4	148266		<li>Q->E at 29: in a breast cancer sample; somatic mutation</li><li>E->G at 87: in a breast cancer sample; somatic mutation</li>										2
Q5MJ08	441525		<li>K->N at 48: in dbSNP:rs10482390</li>									rs10482390	2
Q5MJ09	139067		<li>K->N at 43: in dbSNP:rs6654212</li><li>V->I at 89: in dbSNP:rs5953851</li>									<li>rs5953851</li><li>rs6654212</li>	2
Q5MJ10	494119		<li>T->I at 8</li>										2
Q5MNV8	494188		<li>R->Q at 209: in dbSNP:rs9906595</li>									rs9906595	2
Q5MY95	377841		<li>L->P at 62: in dbSNP:rs6606582</li>									rs6606582	2
Q5PT55	347051		<li>I->T at 287: in dbSNP:rs7012758</li>									rs7012758	2
Q5QGS0	340533		<li>I->T at 1112: in dbSNP:rs12851763</li>									rs12851763	2
Q5QGT7	344892		<li>Q->R at 82: in dbSNP:rs11707167</li>									rs11707167	2
Q5QGZ9	160364		<li>Q->K at 254: in dbSNP:rs479499</li>									rs479499	2
Q5QJ38	126637		<li>A->G at 193: in dbSNP:rs16833835</li>									rs16833835	2
Q5QJE6	30836		<li>E->D at 309: in dbSNP:rs3747965</li><li>T->A at 341: in dbSNP:rs3179879</li><li>A->V at 430: in dbSNP:rs35650636</li><li>Y->F at 676: in dbSNP:rs12748154</li>									<li>rs35650636</li><li>rs3179879</li><li>rs3747965</li><li>rs12748154</li>	2
Q5QJU3	340485		<li>A->V at 134: in dbSNP:rs10964136</li>									rs10964136	2
Q5R372	9910		<li>S->G at 277: in dbSNP:rs7339904</li>									rs7339904	2
Q5R387	391013		<li>Q->R at 140: in dbSNP:rs6426616</li>									rs6426616	2
Q5R3I4	55020		<li>F->L at 243: in dbSNP:rs130642</li>									rs130642	2
Q5R3K3	441168		<li>G->R at 80: in dbSNP:rs1057192</li><li>E->K at 293: in dbSNP:rs11544160</li>									<li>rs11544160</li><li>rs1057192</li>	2
Q5RHP9	127254		<li>P->A at 264: in dbSNP:rs11210490</li><li>R->H at 555: in dbSNP:rs696698</li><li>I->V at 636: in dbSNP:rs17095653</li><li>H->R at 691: in dbSNP:rs2305549</li><li>L->V at 1056: in dbSNP:rs11580409</li><li>V->M at 1528: in dbSNP:rs9326116</li>									<li>rs696698</li><li>rs9326116</li><li>rs11210490</li><li>rs11580409</li><li>rs2305549</li><li>rs17095653</li>	2
Q5S007	120892		<li>H->R at 50: in dbSNP:rs2256408</li><li>L->P at 119: in dbSNP:rs33995463</li><li>C->S at 228: in dbSNP:rs56108242</li><li>A->V at 419: in dbSNP:rs34594498</li><li>N->K at 551: in dbSNP:rs7308720</li><li>M->V at 712: in PD</li><li>A->V at 716</li><li>I->V at 723: in dbSNP:rs10878307</li><li>P->L at 755: in dbSNP:rs34410987</li><li>R->M at 793: in PARK8 and PD; idiopathic and late onset sporadic; could be a polymorphism; dbSNP:rs35173587, MIM: 607060</li><li>K->E at 871, MIM: 607060</li><li>Q->R at 930: in PARK8; could be a poymorphism, MIM: 607060</li><li>D->Y at 944: in dbSNP:rs17519916, MIM: 607060</li><li>R->Q at 1067: in PD; familial nondominant, MIM: 607060</li><li>S->C at 1096: in PARK8; could be a polymorphism, MIM: 607060</li><li>I->V at 1122: in PARK8; dbSNP:rs34805604, MIM: 607060</li><li>S->T at 1228: in PARK8, MIM: 607060</li><li>P->A at 1262: in dbSNP:rs4640000, MIM: 607060</li><li>I->V at 1371: in PARK8 and PD; could be a polymorphism; dbSNP:rs17466213, MIM: 607060</li><li>D->E at 1375: in dbSNP:rs28365226, MIM: 607060</li><li>R->H at 1398: in dbSNP:rs7133914, MIM: 607060</li><li>R->C at 1441: in PARK8 and PD; autosomal dominant inheritance; show an increase in activity in both autophosphorylation and phosphorylation of a generic substrate: in dbSNP rsrs33939927, MIM: 607060</li><li>R->G at 1441: in PARK8 and PD; sporadic late-onset patients; dbSNP:rs33939927, MIM: 607060</li><li>R->H at 1441: in PARK8 and PD; sporadic; pathogenicity has yet to be confirmed; dbSNP:rs34995376, MIM: 607060</li><li>R->Q at 1514: in PARK8; pathogenicity has yet to be confirmed; might have an effect on protein structure; dbSNP:rs35507033, MIM: 607060</li><li>P->S at 1542: in PARK8; pathogenicity has yet to be confirmed; might have an effect on protein structure; dbSNP:rs33958906, MIM: 607060</li><li>R->Q at 1550: in an ovarian mucinous carcinoma sample; somatic mutation, MIM: 607060</li><li>V->E at 1598: in PARK8; pathogenicity has yet to be confirmed; might have an effect on protein structure; dbSNP:rs721710, MIM: 607060</li><li>R->P at 1628: in dbSNP:rs33949390, MIM: 607060</li><li>M->T at 1646, MIM: 607060</li><li>S->T at 1647: in dbSNP:rs11564148, MIM: 607060</li><li>Y->C at 1699: in PARK8; dbSNP:rs35801418, MIM: 607060</li><li>R->P at 1723: in an ovarian serous carcinoma sample; somatic mutation, MIM: 607060</li><li>R->H at 1728: in PD, MIM: 607060</li><li>R->L at 1728: in PD, MIM: 607060</li><li>M->T at 1869: in PARK8 and PD; pathogenicity has yet to be confirmed: in dbSNP rsrs35602796, MIM: 607060</li><li>L->F at 1870, MIM: 607060</li><li>R->H at 1941: in PARK8, MIM: 607060</li><li>I->T at 2012: in PARK8; pathogenicity uncertain: in dbSNP rsrs34015634, MIM: 607060</li><li>G->S at 2019: in PARK8 and PD; idiopathic or sporadic; the most common genetic determinant of PD identified so far; show an increase in activity in both autophosphorylation and phosphorylation of a generic substrate: in dbSNP rsrs34637584, MIM: 607060</li><li>I->T at 2020: in PARK8; significant increase in autophosphorylation of about 40% in comparison to wild-type protein in vitro: in dbSNP rsrs35870237, MIM: 607060</li><li>N->D at 2081: in dbSNP rsrs33995883, MIM: 607060</li><li>P->L at 2119: in dbSNP:rs12423862, MIM: 607060</li><li>T->M at 2141: in PD, MIM: 607060</li><li>R->H at 2143: in PD, MIM: 607060</li><li>N->I at 2261: in dbSNP:rs12581902, MIM: 607060</li><li>T->I at 2356: in PARK8, MIM: 607060</li><li>G->R at 2385: associated with PD; both the wild-type and the variant protein localize to the cytoplasm and form aggregates; under conditions of oxidative stress the variant protein is more toxic and is associated with a higher rate of apoptosis: in dbSNP rsrs34778348, MIM: 607060</li><li>E->K at 2395, MIM: 607060</li><li>M->T at 2397: in dbSNP:rs3761863, MIM: 607060</li><li>L->H at 2466: in PD, MIM: 607060</li>	<li>phosphorylation</li><li>autophosphorylation</li><li>apoptosis</li>	<li>GO:0016310</li><li>GO:0046777</li><li>GO:0006915</li>			cytoplasm	GO:0005737		Parkinson disease 8 (PARK8) [MIM:607060, 168600]	<li>rs33995883</li><li>rs3761863</li><li>rs56108242</li><li>rs2256408</li><li>rs10878307</li><li>rs34995376</li><li>rs34594498</li><li>rs17466213</li><li>rs35173587</li><li>rs7133914</li><li>rs34015634</li><li>rs33995463</li><li>rs35507033</li><li>rs33939927</li><li>rs17519916</li><li>rs35870237</li><li>rs35602796</li><li>rs34637584</li><li>rs11564148</li><li>rs34805604</li><li>rs7308720</li><li>rs28365226</li><li>rs33958906</li><li>rs12581902</li><li>rs34778348</li><li>rs34410987</li><li>rs4640000</li><li>rs721710</li><li>rs35801418</li><li>rs33949390</li><li>rs12423862</li>	2
Q5SGD2	151742		<li>A->S at 262: in dbSNP:rs13326359</li>									rs13326359	2
Q5SNV9			<li>P->S at 453: in dbSNP:rs6668699</li><li>R->Q at 544: in dbSNP:rs4845880</li><li>R->W at 602: in dbSNP:rs6667720</li><li>W->R at 782: in dbSNP:rs6699881</li><li>R->C at 800: in dbSNP:rs7538516</li><li>S->I at 848: in dbSNP:rs6697244</li><li>R->H at 944: in dbSNP:rs4846043</li><li>W->R at 955: in dbSNP:rs4846044</li><li>R->H at 1215: in dbSNP:rs3737967</li><li>C->S at 1295: in dbSNP:rs1537514</li><li>R->G at 1451: in dbSNP:rs868014</li>									<li>rs6667720</li><li>rs6668699</li><li>rs6697244</li><li>rs6699881</li><li>rs4845880</li><li>rs4846044</li><li>rs4846043</li><li>rs1537514</li><li>rs7538516</li><li>rs868014</li><li>rs3737967</li>	2
Q5SQ13	203235		<li>L->F at 8: in dbSNP:rs11787585</li><li>Q->R at 37: in dbSNP:rs2386136</li><li>W->G at 220: in dbSNP:rs11790360</li>									<li>rs11787585</li><li>rs2386136</li><li>rs11790360</li>	2
Q5SQN1	116841		<li>R->G at 3: in dbSNP:rs2236359</li><li>G->R at 74: in dbSNP:rs12239037</li><li>V->M at 109: in dbSNP:rs2236358</li><li>R->C at 336: in dbSNP:rs17851681</li>									<li>rs12239037</li><li>rs2236359</li><li>rs2236358</li><li>rs17851681</li>	2
Q5SQS8	399814		<li>T->K at 20: in dbSNP:rs41448048</li><li>A->T at 269: in dbSNP:rs2947594</li>									<li>rs41448048</li><li>rs2947594</li>	2
Q5SR76	255352		<li>S->N at 264: in dbSNP:rs12781609</li>									rs12781609	2
Q5SRE5	23511		<li>A->V at 1419: in dbSNP:rs17433024</li><li>N->K at 1587: in dbSNP:rs12350674</li>									<li>rs12350674</li><li>rs17433024</li>	2
Q5SRE7	254295		<li>R->W at 222: in dbSNP:rs10988159</li>									rs10988159	2
Q5SRI9	79694		<li>Y->C at 331: in a breast cancer sample; somatic mutation</li>										2
Q5SRN2	10665		<li>R->C at 30: in dbSNP:rs3129941</li><li>Y->H at 36: in dbSNP:rs9268384</li><li>Y->C at 69: in dbSNP:rs9268368</li><li>P->L at 128: in dbSNP:rs1033500</li><li>I->F at 150: in dbSNP:rs1265754</li><li>P->L at 161: in dbSNP:rs1003878</li><li>S->P at 170: in dbSNP:rs9405090</li><li>S->P at 227: in dbSNP:rs560505</li><li>I->V at 315: in dbSNP:rs3749966</li><li>K->Q at 400: in dbSNP:rs7775397</li>									<li>rs1265754</li><li>rs9405090</li><li>rs1033500</li><li>rs3129941</li><li>rs3749966</li><li>rs7775397</li><li>rs1003878</li><li>rs9268368</li><li>rs560505</li><li>rs9268384</li>	2
Q5SSG8	394263		<li>D->E at 139: in dbSNP:rs9262324</li><li>E->G at 161: in dbSNP:rs9262337</li><li>E->D at 244: in dbSNP:rs41288649</li><li>G->S at 253: in dbSNP:rs41288655</li><li>V->A at 285: in dbSNP:rs9262370</li><li>E->D at 289: in dbSNP:rs41288665</li><li>N->S at 313: in dbSNP:rs9262379</li><li>A->V at 315: in dbSNP:rs41288675</li><li>D->E at 319: in dbSNP:rs9262380</li><li>T->P at 323: in dbSNP:rs41288679</li><li>S->N at 328: in dbSNP:rs41288681</li>									<li>rs41288679</li><li>rs9262380</li><li>rs41288665</li><li>rs41288675</li><li>rs9262370</li><li>rs9262324</li><li>rs41288655</li><li>rs41288681</li><li>rs9262337</li><li>rs9262379</li><li>rs41288649</li>	2
Q5ST30	57176		<li>H->Y at 26: in dbSNP:rs6926224</li><li>G->R at 64: in dbSNP:rs6926723</li><li>W->R at 449: in dbSNP:rs2249464</li><li>V->L at 680: in dbSNP:rs2074506</li><li>R->Q at 917: in dbSNP:rs9394021</li><li>A->T at 965: in dbSNP:rs2252863</li><li>Q->R at 1049: in dbSNP:rs4678</li>									<li>rs6926723</li><li>rs6926224</li><li>rs9394021</li><li>rs4678</li><li>rs2252863</li><li>rs2074506</li><li>rs2249464</li>	2
Q5SV97			<li>W->R at 20: in dbSNP:rs6660139</li>									rs6660139	2
Q5SVQ8	360023		<li>D->Y at 327: in dbSNP:rs10494751</li>									rs10494751	2
Q5SVZ6	79830		<li>V->M at 73: in dbSNP:rs2971408</li><li>R->Q at 454: in dbSNP:rs7552714</li><li>E->G at 493: in dbSNP:rs16837197</li>									<li>rs2971408</li><li>rs7552714</li><li>rs16837197</li>	2
Q5SW79	9859		<li>G->S at 213: in dbSNP:rs2631092</li>									rs2631092	2
Q5SWA1	84919		<li>P->S at 26: in dbSNP:rs12094135</li><li>E->K at 144: in dbSNP:rs4492688</li><li>N->S at 308: in dbSNP:rs3014626</li><li>E->G at 363: in dbSNP:rs2089891</li><li>K->E at 589: in dbSNP:rs17855962</li>									<li>rs2089891</li><li>rs12094135</li><li>rs3014626</li><li>rs17855962</li><li>rs4492688</li>	2
Q5SWX8	54953		<li>S->C at 251: in dbSNP:rs12084264</li>									rs12084264	2
Q5SXH7	79949		<li>V->I at 337: in dbSNP:rs34024791</li>									rs34024791	2
Q5SXM1	339500		<li>K->E at 144: in dbSNP:rs17854209</li>									rs17854209	2
Q5SXM8	728489		<li>P->H at 169: in dbSNP:rs3812553</li><li>S->T at 178: in dbSNP:rs3812552</li>									<li>rs3812553</li><li>rs3812552</li>	2
Q5SY80	257044		<li>T->K at 66: in dbSNP:rs11586356</li><li>T->I at 653: in a breast cancer sample; somatic mutation</li>									rs11586356	2
Q5SYB0	22844		<li>T->P at 6: in dbSNP:rs3747539</li><li>A->T at 44: in dbSNP:rs2296556</li><li>T->N at 50: in dbSNP:rs7031966</li><li>A->V at 225: in dbSNP:rs1359590</li><li>G->D at 572: in a breast cancer sample; somatic mutation</li><li>Y->D at 846: in dbSNP:rs34233395</li><li>G->E at 1092: in dbSNP:rs35075933</li>									<li>rs35075933</li><li>rs7031966</li><li>rs34233395</li><li>rs2296556</li><li>rs1359590</li><li>rs3747539</li>	2
Q5SYE7			<li>V->M at 1085: in dbSNP:rs3734305</li><li>G->S at 1585: in dbSNP:rs11540147</li>									<li>rs11540147</li><li>rs3734305</li>	2
Q5SZB4	375759		<li>R->K at 248: in dbSNP:rs918165</li><li>R->Q at 312: in dbSNP:rs3213763</li><li>R->Q at 381: in dbSNP:rs2302779</li><li>K->R at 415: in dbSNP:rs3087721</li>									<li>rs2302779</li><li>rs3213763</li><li>rs3087721</li><li>rs918165</li>	2
Q5SZD1			<li>E->Q at 137: in dbSNP:rs6919674</li><li>P->L at 235: in dbSNP:rs9473588</li>									<li>rs6919674</li><li>rs9473588</li>	2
Q5SZI1	401944		<li>N->T at 134: in dbSNP:rs10917051</li>									rs10917051	2
Q5SZK8	341640		<li>V->M at 770: in dbSNP:rs7327915</li><li>L->V at 868: in dbSNP:rs7329939</li><li>M->K at 1039: in dbSNP:rs2496424</li><li>I->S at 1045: in dbSNP:rs17058433</li><li>F->S at 1070: in dbSNP:rs2496425</li><li>R->H at 1668: in dbSNP:rs1868463</li><li>R->W at 1840: in dbSNP:rs9603422</li><li>E->K at 1972: in Fraser syndrome; may impair calcium-binding in the 2nd Calx-beta domain, MIM: 219000</li><li>R->C at 2066: in dbSNP:rs9548505, MIM: 219000</li><li>T->S at 2153: in dbSNP:rs9548506, MIM: 219000</li><li>T->I at 2326: in dbSNP:rs9548509, MIM: 219000</li><li>A->V at 2962: in dbSNP:rs7996253, MIM: 219000</li>			binding	GO:0005488				Fraser syndrome [MIM:219000]	<li>rs7996253</li><li>rs9548509</li><li>rs7329939</li><li>rs7327915</li><li>rs2496425</li><li>rs2496424</li><li>rs9548505</li><li>rs9603422</li><li>rs1868463</li><li>rs9548506</li><li>rs17058433</li>	2
Q5SZL2	387119		<li>S->G at 137: in dbSNP:rs3734381</li><li>D->V at 166: in dbSNP:rs9489444</li><li>P->T at 251: in dbSNP:rs3734382</li><li>S->F at 345: in a breast cancer sample; somatic mutation</li><li>Q->H at 532: in dbSNP:rs9489410</li><li>M->V at 640: in dbSNP:rs7743702</li>									<li>rs9489410</li><li>rs9489444</li><li>rs7743702</li><li>rs3734381</li><li>rs3734382</li>	2
Q5T013	81888		<li>D->N at 239: in dbSNP:rs17850049</li>									rs17850049	2
Q5T036	158293		<li>L->F at 22: in dbSNP:rs1055710</li><li>K->E at 241: in dbSNP:rs10821128</li>									<li>rs1055710</li><li>rs10821128</li>	2
Q5T089	79906		<li>L->V at 124: in dbSNP:rs12130128</li><li>H->Y at 330: in dbSNP:rs17851912</li>									<li>rs17851912</li><li>rs12130128</li>	2
Q5T0J7	84066		<li>E->G at 55: in dbSNP:rs16852957</li><li>A->G at 146: in dbSNP:rs12079481</li><li>L->R at 171: in dbSNP:rs3813636</li>									<li>rs16852957</li><li>rs12079481</li><li>rs3813636</li>	2
Q5T0L3	284680		<li>V->A at 69: in dbSNP:rs164181</li><li>R->H at 217: in dbSNP:rs17853130</li>									<li>rs164181</li><li>rs17853130</li>	2
Q5T0N1	118491		<li>W->L at 849: in dbSNP:rs12256262</li><li>N->D at 944: in dbSNP:rs4294502</li>									<li>rs4294502</li><li>rs12256262</li>	2
Q5T0T0	220972		<li>P->S at 92: in dbSNP:rs3764990</li><li>Y->H at 266: in dbSNP:rs7908745</li>									<li>rs7908745</li><li>rs3764990</li>	2
Q5T0W9	222584		<li>N->S at 410: in dbSNP:rs13211183</li><li>S->R at 435: in dbSNP:rs9475076</li><li>K->T at 640: in dbSNP:rs239798</li><li>T->N at 907: in dbSNP:rs9475077</li>									<li>rs9475077</li><li>rs13211183</li><li>rs239798</li><li>rs9475076</li>	2
Q5T124	91544		<li>E->G at 165: in dbSNP:rs6695966</li><li>L->R at 312: in dbSNP:rs4332350</li><li>A->V at 474</li><li>C->CPGPGPGPS at 486</li><li>Missing at 487-494</li><li>Missing at 488-502</li><li>P->S at 501: in dbSNP:rs17838088</li><li>P->S at 509: in dbSNP:rs17838088</li>									<li>rs17838088</li><li>rs6695966</li><li>rs4332350</li>	2
Q5T160	57038		<li>K->R at 291: in dbSNP:rs17850652</li><li>I->V at 331: in dbSNP:rs3757370</li><li>D->G at 367: in dbSNP:rs1108758</li>									<li>rs17850652</li><li>rs3757370</li><li>rs1108758</li>	2
Q5T197	149095		<li>M->L at 512: in dbSNP:rs11264300</li>									rs11264300	2
Q5T1B0	126859		<li>I->L at 522: in dbSNP:rs11577579</li><li>A->V at 742: in dbSNP:rs17369441</li><li>E->Q at 991: in dbSNP:rs6425573</li><li>Q->E at 993: in dbSNP:rs6658180</li>									<li>rs6658180</li><li>rs6425573</li><li>rs11577579</li><li>rs17369441</li>	2
Q5T1B1	170393		<li>E->G at 144: in dbSNP:rs11146376</li>									rs11146376	2
Q5T1C6	117145		<li>L->R at 17: in dbSNP:rs3748805</li><li>S->C at 38</li>									rs3748805	2
Q5T1H1	346007		<li>T->M at 120: in dbSNP:rs12193967</li><li>P->L at 852: in dbSNP:rs9294631</li>									<li>rs12193967</li><li>rs9294631</li>	2
Q5T1M5	23307		<li>A->T at 106: in dbSNP:rs1133618</li><li>H->Q at 413: in dbSNP:rs10435864</li><li>L->F at 434: in dbSNP:rs10465129</li>									<li>rs10465129</li><li>rs10435864</li><li>rs1133618</li>	2
Q5T1N1			<li>N->S at 61: in dbSNP:rs1277207</li><li>A->V at 104: in dbSNP:rs17621411</li><li>E->G at 167: in dbSNP:rs17852793</li><li>H->Y at 255: in dbSNP:rs9440631</li><li>L->V at 352: in dbSNP:rs11580913</li><li>N->K at 616: in dbSNP:rs7551421</li><li>C->Y at 654: in dbSNP:rs7522157</li>									<li>rs1277207</li><li>rs7522157</li><li>rs17621411</li><li>rs9440631</li><li>rs17852793</li><li>rs7551421</li><li>rs11580913</li>	2
Q5T1R4	59269		<li>V->I at 35: in dbSNP:rs2146315</li><li>V->M at 484: in a colorectal cancer sample; somatic mutation</li><li>H->R at 575: in dbSNP:rs2810566</li><li>Q->H at 1087: in dbSNP:rs17363472</li><li>A->P at 2023: in dbSNP:rs2483689</li><li>D->A at 2109: in dbSNP:rs2991344</li><li>G->R at 2272: in dbSNP:rs11809423</li><li>T->A at 2339: in dbSNP:rs9439043</li>									<li>rs2483689</li><li>rs17363472</li><li>rs2146315</li><li>rs11809423</li><li>rs2991344</li><li>rs2810566</li><li>rs9439043</li>	2
Q5T1V6	83479		<li>P->T at 77: in a breast cancer sample; somatic mutation</li><li>I->V at 107: in dbSNP:rs3795634</li><li>S->R at 472: in dbSNP:rs17854157</li>									<li>rs3795634</li><li>rs17854157</li>	2
Q5T200	23091		<li>E->D at 1429: in dbSNP:rs9534264</li>									rs9534264	2
Q5T280	51490		<li>A->V at 63: in dbSNP:rs34500948</li><li>T->R at 130: in dbSNP:rs6478854</li><li>I->T at 369: in dbSNP:rs2280843</li>									<li>rs6478854</li><li>rs2280843</li><li>rs34500948</li>	2
Q5T292	170371		<li>P->L at 83: in dbSNP:rs12257132</li>									rs12257132	2
Q5T2D3	23252		<li>N->S at 321: in dbSNP:rs2298110</li><li>A->T at 333: in dbSNP:rs10916668</li>									<li>rs10916668</li><li>rs2298110</li>	2
Q5T2L2	340811		<li>R->H at 50: in dbSNP:rs7097295</li>									rs7097295	2
Q5T2Q4			<li>V->E at 57: in dbSNP:rs2490085</li><li>R->Q at 176: in dbSNP:rs2489720</li><li>I->V at 288: in dbSNP:rs2505861</li>									<li>rs2490085</li><li>rs2505861</li><li>rs2489720</li>	2
Q5T2R2	23590		<li>D->E at 308: in coenzyme q10 deficiency, MIM: 607426</li>								Coenzyme Q10 deficiency [MIM:607426]		2
Q5T2S8	55130		<li>I->T at 343: in dbSNP:rs4405206</li><li>N->K at 935: in dbSNP:rs35181927</li><li>A->S at 1041: in dbSNP:rs3737184</li>									<li>rs3737184</li><li>rs35181927</li><li>rs4405206</li>	2
Q5T3F8	55362		<li>V->M at 307: in dbSNP:rs4714759</li>									rs4714759	2
Q5T3J3	55791		<li>A->T at 438: in dbSNP:rs2232041</li><li>S->P at 599: in dbSNP:rs2232045</li><li>I->M at 641: in dbSNP:rs2232047</li>									<li>rs2232045</li><li>rs2232047</li><li>rs2232041</li>	2
Q5T3U5	89845		<li>I->T at 948: in dbSNP:rs2125739</li>									rs2125739	2
Q5T440	200205		<li>G->S at 211: in dbSNP:rs2298014</li>									rs2298014	2
Q5T442	57165		<li>P->S at 90: in PMLD1, MIM: 608804</li><li>Y->D at 272: in PMLD1, MIM: 608804</li><li>M->T at 286: in PMLD1, MIM: 608804</li>								Pelizaeus-Merzbacher-like disease autosomal recessive type 1 (PMLD1) [MIM:608804]		2
Q5T481			<li>P->T at 173: in dbSNP:rs7908490</li><li>W->S at 768: in dbSNP:rs1417635</li>									<li>rs7908490</li><li>rs1417635</li>	2
Q5T4D3	84899		<li>V->M at 286: in dbSNP:rs3809371</li><li>V->I at 419: in dbSNP:rs946837</li><li>M->V at 655: in a breast cancer sample; somatic mutation</li>									<li>rs946837</li><li>rs3809371</li>	2
Q5T4F4	118813		<li>V->I at 82: in dbSNP:rs17108378</li><li>G->V at 138: in dbSNP:rs10882993</li><li>G->V at 191: in SPG33; dbSNP:rs35077384, MIM: 610244</li>								Spastic paraplegia autosomal dominant type 33 (SPG33) [MIM:610244]	<li>rs17108378</li><li>rs35077384</li><li>rs10882993</li>	2
Q5T4F7	6425		<li>G->A at 7: in dbSNP:rs11815012</li>									rs11815012	2
Q5T4H9	399726		<li>R->P at 73: in dbSNP:rs11012724</li>									rs11012724	2
Q5T4I8	347744		<li>A->D at 13: in dbSNP:rs7749306</li>									rs7749306	2
Q5T4J0			<li>P->L at 316: in dbSNP:rs9885719</li>									rs9885719	2
Q5T4S7	23352		<li>T->A at 1107: in dbSNP:rs16862578</li><li>R->H at 1394: in a breast cancer sample; somatic mutation</li><li>M->L at 4867: in dbSNP:rs12584</li><li>G->R at 4924: in a melanoma patient</li><li>V->M at 5084: in dbSNP:rs2274010</li>									<li>rs12584</li><li>rs16862578</li><li>rs2274010</li>	2
Q5T4T6	221711		<li>V->I at 94: in dbSNP:rs6456746</li><li>N->D at 647: in dbSNP:rs3798751</li><li>P->S at 672: in dbSNP:rs1225746</li>									<li>rs1225746</li><li>rs3798751</li><li>rs6456746</li>	2
Q5T4W7	9048		<li>Q->R at 19: in dbSNP:rs2242637</li>									rs2242637	2
Q5T5C0	134957		<li>N->S at 436: in dbSNP:rs1039084</li>									rs1039084	2
Q5T5J6	54823		<li>I->V at 148: in dbSNP:rs10489579</li><li>H->R at 536: in dbSNP:rs6698109</li><li>L->F at 638: in dbSNP:rs2295950</li><li>N->D at 821: in dbSNP:rs12041704</li>									<li>rs6698109</li><li>rs12041704</li><li>rs10489579</li><li>rs2295950</li>	2
Q5T5N4	168090		<li>R->L at 166: in dbSNP:rs36007498</li><li>I->M at 256: in dbSNP:rs510579</li><li>G->E at 271: in dbSNP:rs17852379</li><li>T->M at 301: in dbSNP:rs540751</li><li>V->L at 363: in dbSNP:rs9459350</li><li>R->Q at 385: in dbSNP:rs17856754</li>									<li>rs540751</li><li>rs510579</li><li>rs36007498</li><li>rs17856754</li><li>rs9459350</li><li>rs17852379</li>	2
Q5T5P2	56243		<li>A->G at 145: in dbSNP:rs17506606</li><li>A->T at 887: in dbSNP:rs10828663</li><li>P->A at 1362: in dbSNP:rs16924863</li>									<li>rs16924863</li><li>rs10828663</li><li>rs17506606</li>	2
Q5T5S1	84960		<li>M->T at 38: in dbSNP:rs945386</li><li>L->R at 113: in dbSNP:rs4546744</li><li>D->A at 129: in dbSNP:rs7859194</li><li>R->W at 342: in dbSNP:rs2811795</li><li>T->N at 421: in dbSNP:rs2254143</li>									<li>rs2254143</li><li>rs4546744</li><li>rs2811795</li><li>rs945386</li><li>rs7859194</li>	2
Q5T5Y3	157922		<li>A->V at 476: in dbSNP:rs35639321</li>									rs35639321	2
Q5T619	127665		<li>E->K at 42: in dbSNP:rs12564283</li><li>N->K at 111: in dbSNP:rs12568050</li>									<li>rs12564283</li><li>rs12568050</li>	2
Q5T653	51069		<li>S->F at 300: in dbSNP:rs10456521</li>									rs10456521	2
Q5T655	159686		<li>S->T at 496: in dbSNP:rs11192036</li><li>Q->H at 804: in dbSNP:rs7087328</li>									<li>rs7087328</li><li>rs11192036</li>	2
Q5T681	414157		<li>E->D at 121: in dbSNP:rs7093840</li>									rs7093840	2
Q5T686			<li>G->A at 41: in dbSNP:rs2275047</li>									rs2275047	2
Q5T6C5	127002		<li>P->S at 495: in dbSNP:rs1149172</li>									rs1149172	2
Q5T6F0	25853		<li>R->Q at 131: in dbSNP:rs11557154</li>									rs11557154	2
Q5T6F2	55833		<li>R->Q at 14: in dbSNP:rs1785506</li><li>P->L at 429: in dbSNP:rs10971809</li><li>N->S at 606: in dbSNP:rs307658</li><li>A->V at 756: in dbSNP:rs307692</li><li>M->I at 762: in dbSNP:rs16935295</li>									<li>rs10971809</li><li>rs307658</li><li>rs16935295</li><li>rs307692</li><li>rs1785506</li>	2
Q5T6J7			<li>K->T at 185: in dbSNP:rs1052690</li>									rs1052690	2
Q5T6L9	55780		<li>S->G at 540: in dbSNP:rs4716346</li>									rs4716346	2
Q5T6X4	221303		<li>Q->H at 71: in dbSNP:rs654128</li>									rs654128	2
Q5T742	220979		<li>N->I at 63: in dbSNP:rs12269028</li>									rs12269028	2
Q5T749	448834		<li>Q->H at 14: in dbSNP:rs17612167</li><li>V->A at 37: in dbSNP:rs944683</li><li>C->R at 113: in dbSNP:rs16834457</li><li>R->H at 168: in dbSNP:rs16834461</li><li>C->S at 413: in dbSNP:rs4329520</li><li>P->T at 532: in dbSNP:rs6703294</li>									<li>rs944683</li><li>rs16834461</li><li>rs17612167</li><li>rs6703294</li><li>rs4329520</li><li>rs16834457</li>	2
Q5T751	353133		<li>C->Y at 16: in dbSNP:rs2006940</li>									rs2006940	2
Q5T764	439996		<li>L->P at 188: in dbSNP:rs7072728</li>									rs7072728	2
Q5T7B8	347240		<li>D->E at 50: in dbSNP:rs16935508</li><li>M->V at 140: in dbSNP:rs10972048</li><li>W->L at 218: in dbSNP:rs17350674</li><li>T->K at 1077: in dbSNP:rs34101674</li>									<li>rs34101674</li><li>rs17350674</li><li>rs10972048</li><li>rs16935508</li>	2
Q5T7M4	388581		<li>G->R at 14: in dbSNP:rs7539412</li>									rs7539412	2
Q5T7N2	54596		<li>R->S at 27: in dbSNP:rs7552335</li><li>V->A at 246: in dbSNP:rs7542665</li><li>V->M at 309: in dbSNP:rs7533274</li><li>K->N at 329: in dbSNP:rs2457828</li><li>P->T at 549: in dbSNP:rs11207933</li><li>T->I at 613: in dbSNP:rs2886644</li><li>L->V at 860: in dbSNP:rs11207934</li>									<li>rs7533274</li><li>rs11207934</li><li>rs11207933</li><li>rs7552335</li><li>rs2886644</li><li>rs2457828</li><li>rs7542665</li>	2
Q5T7N3	163782		<li>G->S at 701: in dbSNP:rs17123306</li><li>T->A at 768: in dbSNP:rs11207949</li><li>H->R at 822: in dbSNP:rs2258470</li><li>V->A at 840: in dbSNP:rs2666472</li><li>V->L at 935: in dbSNP:rs2941679</li><li>A->V at 987: in dbSNP:rs34591898</li>									<li>rs11207949</li><li>rs2666472</li><li>rs34591898</li><li>rs2941679</li><li>rs2258470</li><li>rs17123306</li>	2
Q5T7V8	92344		<li>E->K at 320: in dbSNP:rs913257</li>									rs913257	2
Q5T7W7	158427		<li>R->Q at 83: in dbSNP:rs2773347</li><li>A->D at 109: in dbSNP:rs10817858</li>									<li>rs2773347</li><li>rs10817858</li>	2
Q5T848	57512		<li>A->G at 425: in dbSNP:rs2480345</li><li>I->V at 1209: in dbSNP:rs10828833</li>									<li>rs10828833</li><li>rs2480345</li>	2
Q5T890	375748		<li>V->A at 592: in dbSNP:rs2274654</li>									rs2274654	2
Q5T8A7	9858		<li>V->A at 98: in dbSNP:rs3748192</li><li>K->E at 206: in dbSNP:rs3928777</li><li>R->K at 346: in dbSNP:rs914644</li><li>M->T at 434: in dbSNP:rs1808998</li><li>R->H at 520: in dbSNP:rs3748195</li><li>G->S at 576: in dbSNP:rs17854528</li><li>N->D at 834: in dbSNP:rs2078266</li>									<li>rs17854528</li><li>rs914644</li><li>rs1808998</li><li>rs2078266</li><li>rs3748192</li><li>rs3748195</li><li>rs3928777</li>	2
Q5T8D3	91452		<li>T->M at 472: in dbSNP:rs7918793</li>									rs7918793	2
Q5T8I9	113802		<li>T->A at 129: in dbSNP:rs9988420</li><li>R->Q at 230: in dbSNP:rs35974434</li><li>M->I at 361: in dbSNP:rs17850887</li>									<li>rs17850887</li><li>rs9988420</li><li>rs35974434</li>	2
Q5T8P6	64062		<li>V->D at 718: in dbSNP:rs10767</li>									rs10767	2
Q5T8R8	157983		<li>L->R at 43: in dbSNP:rs636922</li><li>R->Q at 178: in dbSNP:rs2236547</li><li>R->G at 231: in dbSNP:rs540473</li>									<li>rs540473</li><li>rs2236547</li><li>rs636922</li>	2
Q5T953	389792		<li>P->S at 105: in dbSNP:rs184457</li>									rs184457	2
Q5T9A4	83858		<li>V->I at 7: in dbSNP:rs1240504</li>									rs1240504	2
Q5T9L3	79971		<li>V->I at 465: in dbSNP:rs983034</li>									rs983034	2
Q5T9Y9			<li>N->D at 13: in dbSNP:rs10797774</li>									rs10797774	2
Q5T9Z0	127670		<li>Y->H at 130: in dbSNP:rs6674281</li>									rs6674281	2
Q5TA76	353142		<li>R->C at 59: in dbSNP:rs16834245</li>									rs16834245	2
Q5TA78	199834		<li>G->V at 95: in dbSNP:rs10888510</li>									rs10888510	2
Q5TA82	353141		<li>C->Y at 92: in dbSNP:rs11205064</li>									rs11205064	2
Q5TAA0	55001		<li>L->V at 14: in dbSNP:rs671108</li>									rs671108	2
Q5TAH2	284525		<li>T->M at 481: in dbSNP:rs7551131</li><li>A->G at 505: in dbSNP:rs16846206</li><li>R->S at 934: in dbSNP:rs17854214</li>									<li>rs7551131</li><li>rs17854214</li><li>rs16846206</li>	2
Q5TAP6	9724		<li>G->V at 85: in dbSNP:rs3742289</li><li>T->A at 101: in dbSNP:rs3742290</li><li>R->H at 319: in dbSNP:rs17402034</li>									<li>rs17402034</li><li>rs3742289</li><li>rs3742290</li>	2
Q5TAX3	23318		<li>D->Y at 796: in dbSNP:rs12127732</li>									rs12127732	2
Q5TB80	22832		<li>C->S at 266: in dbSNP:rs17790493</li><li>E->Q at 272: in dbSNP:rs16874323</li><li>S->C at 342: in dbSNP:rs17790493</li><li>E->Q at 348: in dbSNP:rs16874323</li>									<li>rs17790493</li><li>rs16874323</li>	2
Q5TBA9	10129		<li>G->S at 1968: in dbSNP:rs2806639</li>									rs2806639	2
Q5TBB1	79621		<li>L->R at 60: in AGS2; heterozygous compound with T-177, MIM: 610181</li><li>H->R at 86: in AGS2; heterozygous compound with T-177, MIM: 610181</li><li>K->T at 162: in AGS2, MIM: 610181</li><li>T->I at 163: in AGS2; heterozygous compound with T-177, MIM: 610181</li><li>A->T at 177: in AGS2; frequent mutation, MIM: 610181</li><li>V->G at 185: in AGS2, MIM: 610181</li><li>Y->H at 219: in AGS2; heterozygous compound with a nonsense mutation, MIM: 610181</li>							Q5TBB1	Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181]		2
Q5TBC7	440603		<li>D->N at 90: in dbSNP:rs1217381</li>									rs1217381	2
Q5TC12	64756		<li>S->G at 62: in dbSNP:rs11211337</li>									rs11211337	2
Q5TC84	79627		<li>S->P at 47</li><li>Missing at 396</li>										2
Q5TCH4	284541		<li>R->C at 11: in allele CYP4A22*2 and CYP4A22*3</li><li>K->R at 121: in dbSNP:rs2758717</li><li>R->W at 126: in allele CYP4A22*8, allele CYP4A22*9, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs12564525</li><li>G->S at 130: in allele CYP4A22*4, allele CYP4A22*10, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs2056900</li><li>N->Y at 152: in allele CYP4A22*2, allele CYP4A22*3, allele CYP4A22*4, allele CYP4A22*5, allele CYP4A22*6, allele CYP4A22*7, allele CYP4A22*8, allele CYP4A22*9, allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs2056899</li><li>V->F at 185: in allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15</li><li>S->N at 226: in dbSNP:rs35202523</li><li>C->S at 230: in dbSNP:rs35156123</li><li>C->R at 231: allele CYP4A22*2, allele CYP4A22*3, allele CYP4A22*4, allele CYP4A22*5, allele CYP4A22*6, allele CYP4A22*7, allele CYP4A22*8, allele CYP4A22*9, allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs10789501</li><li>K->T at 276: in allele CYP4A22*8, allele CYP4A22*11, allele CYP4A22*14 and allele CYP4A22*15</li><li>L->P at 428: in allele CYP4A22*6, allele CYP4A22*9, allele CYP4A22*10, allele CYP4A22*12, allele CYP4A22*13 and allele CYP4A22*15; dbSNP:rs2405599</li><li>M->I at 491: in dbSNP:rs2758714</li><li>L->F at 509: in allele CYP4A22*7, allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs4926600</li>									<li>rs2056900</li><li>rs12564525</li><li>rs2758717</li><li>rs2405599</li><li>rs2056899</li><li>rs2758714</li><li>rs35202523</li><li>rs10789501</li><li>rs4926600</li><li>rs35156123</li>	2
Q5TCM9	254910		<li>C->Y at 40: in dbSNP:rs2105117</li>									rs2105117	2
Q5TCX8	84451		<li>D->N at 420: in dbSNP rsrs35465006</li><li>E->D at 563: in dbSNP rsrs35758282</li><li>S->F at 597: in dbSNP rsrs34984140</li><li>V->I at 728: in dbSNP:rs3795375</li><li>E->D at 741: in dbSNP:rs3795374</li><li>C->G at 784: in dbSNP:rs963981</li><li>R->W at 892: in dbSNP rsrs55681416</li><li>T->I at 900: in dbSNP rsrs34499091</li><li>R->C at 977: in dbSNP rsrs56065162</li><li>P->L at 982: in dbSNP rsrs34794284</li>									<li>rs56065162</li><li>rs3795375</li><li>rs55681416</li><li>rs34984140</li><li>rs963981</li><li>rs35465006</li><li>rs34499091</li><li>rs34794284</li><li>rs35758282</li><li>rs3795374</li>	2
Q5TCY1	84630		<li>P->L at 613: in dbSNP rsrs34993661</li><li>G->A at 623: in dbSNP:rs3800294</li><li>P->R at 649: in dbSNP rsrs35175743</li><li>D->E at 741: in dbSNP rsrs56377340</li><li>E->D at 744: in dbSNP:rs3800295</li><li>S->F at 806: in a lung large cell carcinoma sample; somatic mutation</li><li>P->S at 855: in a metastatic melanoma sample; somatic mutation</li><li>K->R at 1145: in dbSNP rsrs3800297</li><li>L->S at 1184: in dbSNP:rs3800298</li>									<li>rs3800294</li><li>rs35175743</li><li>rs34993661</li><li>rs56377340</li><li>rs3800295</li><li>rs3800297</li><li>rs3800298</li>	2
Q5TD94	345895		<li>P->S at 87: in CILD11</li><li>T->S at 149: in dbSNP:rs13213314</li><li>R->H at 556: in dbSNP:rs6927567</li><li>L->P at 589: in dbSNP:rs784133</li><li>N->H at 627: in dbSNP:rs9488991</li><li>A->V at 700: in dbSNP:rs9488992</li>									<li>rs6927567</li><li>rs13213314</li><li>rs784133</li><li>rs9488992</li><li>rs9488991</li>	2
Q5TD97			<li>V->M at 211: in dbSNP:rs2252816</li>									rs2252816	2
Q5TEA3	25943		<li>T->P at 481: in dbSNP:rs16988463</li><li>R->G at 577: in dbSNP:rs2422864</li>									<li>rs16988463</li><li>rs2422864</li>	2
Q5TEA6	80343		<li>G->S at 477: in dbSNP:rs11697581</li><li>H->Q at 687: in dbSNP:rs2073290</li>									<li>rs11697581</li><li>rs2073290</li>	2
Q5TEJ8	9473		<li>V->L at 431: in dbSNP:rs35995543</li><li>K->E at 511: in dbSNP:rs3766400</li>									<li>rs3766400</li><li>rs35995543</li>	2
Q5TEU4	79133		<li>L->P at 229: in mitochondrial complex I deficiency, MIM: 252010</li><li>L->F at 337: in dbSNP:rs6042368, MIM: 252010</li>							Q07842	Mitochondrial complex I deficiency [MIM:252010]	rs6042368	2
Q5TF39	91749		<li>S->P at 93: in dbSNP:rs17853558</li>									rs17853558	2
Q5TFG8	153918		<li>P->S at 6: in dbSNP:rs6934118</li>									rs6934118	2
Q5TG30			<li>G->R at 133: in dbSNP:rs6100455</li><li>R->L at 413: in dbSNP:rs6070872</li><li>H->N at 463: in dbSNP:rs16987460</li>									<li>rs6100455</li><li>rs16987460</li><li>rs6070872</li>	2
Q5TG53			<li>R->Q at 91: in dbSNP:rs624270</li>									rs624270	2
Q5TGJ6	154150		<li>T->M at 87: in dbSNP:rs2076506</li>									rs2076506	2
Q5TGL8	221749		<li>Q->H at 184: in dbSNP:rs226959</li><li>P->Q at 189: in dbSNP:rs17855666</li><li>E->Q at 203: in a breast cancer sample; somatic mutation</li>									<li>rs17855666</li><li>rs226959</li>	2
Q5TGP6	80133		<li>N->S at 29: in dbSNP:rs17563089</li><li>V->A at 74: in dbSNP:rs2294740</li><li>Y->H at 160: in dbSNP:rs16863872</li>									<li>rs17563089</li><li>rs16863872</li><li>rs2294740</li>	2
Q5TGY1	255104		<li>Q->K at 72: in dbSNP:rs10917536</li><li>R->H at 478: in dbSNP:rs4515815</li>									<li>rs4515815</li><li>rs10917536</li>	2
Q5TGY3	27245		<li>A->T at 935: in dbSNP:rs4908364</li>									rs4908364	2
Q5TH69	57221		<li>E->D at 413: in dbSNP:rs9376338</li><li>S->A at 689: in dbSNP:rs7764091</li><li>A->T at 1571: in dbSNP:rs3736706</li><li>K->R at 2031: in dbSNP:rs35964895</li>									<li>rs9376338</li><li>rs35964895</li><li>rs3736706</li><li>rs7764091</li>	2
Q5TH74	90529		<li>S->F at 254: in a breast cancer sample; somatic mutation</li>										2
Q5THJ4	55187		<li>A->T at 225: in dbSNP:rs12057307</li><li>S->L at 1341: in dbSNP:rs12407578</li><li>E->V at 1505: in dbSNP:rs4845898</li><li>S->F at 1707: in dbSNP:rs958068</li>									<li>rs4845898</li><li>rs958068</li><li>rs12057307</li><li>rs12407578</li>	2
Q5THR3	64800		<li>V->A at 166: in dbSNP:rs16990981</li><li>R->G at 199: in dbSNP:rs3747203</li><li>T->A at 351: in dbSNP:rs5764214</li><li>S->A at 384: in dbSNP:rs6006438</li><li>H->Y at 400: in dbSNP:rs137794</li><li>T->A at 680: in dbSNP:rs137731</li><li>D->N at 780: in dbSNP:rs12159591</li><li>R->W at 800: in dbSNP:rs6006514</li><li>A->V at 1059: in dbSNP:rs9614382</li>									<li>rs9614382</li><li>rs6006514</li><li>rs137731</li><li>rs6006438</li><li>rs137794</li><li>rs16990981</li><li>rs12159591</li><li>rs3747203</li><li>rs5764214</li>	2
Q5TI25	25832		<li>S->G at 243: in dbSNP:rs3871941</li><li>R->C at 571: in dbSNP:rs17433673</li>									<li>rs17433673</li><li>rs3871941</li>	2
Q5TIA1	150365		<li>E->Q at 657: in dbSNP:rs17002655</li><li>S->T at 853: in dbSNP:rs17002665</li><li>K->E at 1049: in dbSNP:rs12484839</li>									<li>rs12484839</li><li>rs17002655</li><li>rs17002665</li>	2
Q5TID7	57821		<li>F->S at 172: in dbSNP:rs3820059</li>									rs3820059	2
Q5TIE3			<li>A->S at 319: in dbSNP:rs2872972</li><li>N->S at 469: in dbSNP:rs2072752</li><li>S->N at 506: in dbSNP:rs12072406</li><li>K->R at 634: in dbSNP:rs10916769</li>									<li>rs10916769</li><li>rs2072752</li><li>rs2872972</li><li>rs12072406</li>	2
Q5TYW1	26149		<li>S->Y at 68: in dbSNP:rs2065444</li>									rs2065444	2
Q5TZ20	391211		<li>M->L at 258: in dbSNP:rs9330305</li>									rs9330305	2
Q5U3C3	84187		<li>S->N at 204: in dbSNP:rs34026111</li><li>Y->H at 276: in a colorectal cancer sample; somatic mutation</li>									rs34026111	2
Q5U5R9	143279		<li>P->A at 19: in dbSNP:rs7081569</li>									rs7081569	2
Q5U5Z8	79841		<li>I->R at 90: in dbSNP:rs12795414</li><li>T->P at 333: in dbSNP:rs35898124</li><li>R->H at 349: in dbSNP:rs7941404</li><li>D->G at 368: in dbSNP:rs1870545</li><li>M->I at 671: in dbSNP:rs12286721</li>									<li>rs12795414</li><li>rs35898124</li><li>rs1870545</li><li>rs7941404</li><li>rs12286721</li>	2
Q5U623	80063		<li>S->L at 527: in dbSNP:rs34834862</li><li>T->I at 537: in dbSNP:rs9932051</li><li>A->T at 543: in dbSNP:rs9931441</li>									<li>rs9931441</li><li>rs34834862</li><li>rs9932051</li>	2
Q5U649	144608		<li>K->R at 51: in dbSNP:rs17853860</li><li>K->R at 65: in dbSNP:rs7304054</li><li>N->K at 103: in dbSNP:rs7307438</li>									<li>rs7304054</li><li>rs17853860</li><li>rs7307438</li>	2
Q5U651	54922		<li>R->C at 601: in dbSNP:rs2287922</li>									rs2287922	2
Q5UIP0	55183		<li>G->S at 836: in dbSNP:rs2444263</li><li>V->M at 1362: in dbSNP:rs2123465</li><li>R->G at 1686: in dbSNP:rs3732305</li><li>E->K at 1784: in a breast cancer sample; somatic mutation</li><li>V->I at 1862: in dbSNP:rs2444258</li><li>D->H at 1955: in a breast cancer sample; somatic mutation</li><li>N->Y at 2021: in dbSNP:rs2444257</li><li>M->R at 2165: in dbSNP:rs16830057</li><li>L->V at 2418: in dbSNP:rs1065177</li>									<li>rs2444257</li><li>rs16830057</li><li>rs1065177</li><li>rs2444258</li><li>rs2444263</li><li>rs2123465</li><li>rs3732305</li>	2
Q5VIY5	90333		<li>H->R at 374: in dbSNP:rs12462929</li><li>G->R at 477: in dbSNP:rs10419826</li>									<li>rs10419826</li><li>rs12462929</li>	2
Q5VSK2	414308		<li>S->G at 396: in dbSNP:rs1926736</li><li>F->L at 407: in dbSNP:rs2437257</li>									<li>rs1926736</li><li>rs2437257</li>	2
Q5VST6	51104		<li>R->K at 154: in dbSNP:rs12380380</li><li>Q->K at 169: in dbSNP:rs17854317</li>									<li>rs17854317</li><li>rs12380380</li>	2
Q5VST9	84033		<li>A->T at 51: in dbSNP:rs1771487</li><li>Q->R at 502: in dbSNP:rs1771487</li><li>G->S at 804: in dbSNP:rs55950009</li><li>A->T at 908: in dbSNP:rs1757153</li><li>K->R at 1027: in dbSNP:rs55760713</li><li>A->S at 1086</li><li>A->T at 1090</li><li>S->T at 1091</li><li>A->P at 1101</li><li>G->R at 1121</li><li>L->V at 1133</li><li>A->V at 1136: in a colorectal cancer sample; somatic mutation</li><li>H->Q at 1156</li><li>Q->H at 1248</li><li>V->D at 1508: in dbSNP:rs7532342</li><li>A->V at 1532: in dbSNP:rs453140</li><li>T->M at 1566: in dbSNP:rs56217040</li><li>A->T at 1601: in dbSNP:rs55706639</li><li>R->H at 1792: in a colorectal cancer sample; somatic mutation</li><li>V->M at 1930: in a colorectal cancer sample; somatic mutation</li><li>E->K at 2090: in a colorectal cancer sample; somatic mutation</li><li>D->E at 2106: in dbSNP:rs1188721</li><li>F->L at 2116: in dbSNP:rs1188722</li><li>S->F at 2314: in a breast cancer sample; somatic mutation</li><li>R->Q at 2529: in dbSNP:rs3795783</li><li>V->M at 2720: in dbSNP:rs1188697</li><li>R->W at 2812: in dbSNP:rs3795785</li><li>A->T at 3300: in dbSNP:rs437129</li><li>E->D at 3372: in dbSNP:rs3795789</li><li>S->C at 3373: in dbSNP:rs3795790</li><li>A->V at 3389</li><li>D->E at 3426</li><li>R->G at 3834</li><li>R->Q at 3983: in a colorectal cancer sample; somatic mutation</li><li>G->R at 4039: in dbSNP:rs435776</li><li>H->R at 4381: in dbSNP:rs1150912</li><li>C->R at 4450: in dbSNP:rs1188732</li><li>R->H at 4534: in dbSNP:rs4653942</li><li>R->H at 4558: in a colorectal cancer sample; somatic mutation</li><li>R->Q at 4810: in a breast cancer sample; somatic mutation</li><li>A->S at 4823</li><li>A->T at 5071: in a breast cancer sample; somatic mutation</li><li>R->Q at 5598</li><li>E->Q at 6473</li>									<li>rs3795783</li><li>rs3795785</li><li>rs55706639</li><li>rs3795789</li><li>rs437129</li><li>rs55760713</li><li>rs453140</li><li>rs7532342</li><li>rs1188697</li><li>rs4653942</li><li>rs435776</li><li>rs1771487</li><li>rs55950009</li><li>rs1188722</li><li>rs1188721</li><li>rs56217040</li><li>rs1188732</li><li>rs1150912</li><li>rs1757153</li><li>rs3795790</li>	2
Q5VT66	64757		<li>T->A at 165: in dbSNP:rs2642438</li><li>M->K at 187: in dbSNP:rs17850677</li><li>C->S at 246: in dbSNP:rs3738178</li><li>M->I at 268: in dbSNP:rs2642419</li>									<li>rs3738178</li><li>rs17850677</li><li>rs2642419</li><li>rs2642438</li>	2
Q5VT79	244		<li>A->G at 177: in dbSNP:rs3013886</li>									rs3013886	2
Q5VT97			<li>I->M at 406: in dbSNP:rs12090608</li><li>V->I at 491: in dbSNP:rs817443</li><li>V->I at 1079: in dbSNP:rs709786</li>									<li>rs12090608</li><li>rs817443</li><li>rs709786</li>	2
Q5VT99			<li>L->F at 276: in dbSNP:rs2940315</li><li>K->E at 292: in dbSNP:rs3013105</li>									<li>rs2940315</li><li>rs3013105</li>	2
Q5VTE6	90806		<li>P->S at 97: in dbSNP:rs11542154</li>									rs11542154	2
Q5VTJ3			<li>T->P at 133: in dbSNP:rs2992752</li><li>H->N at 259: in dbSNP:rs2992753</li>									<li>rs2992752</li><li>rs2992753</li>	2
Q5VTL7	163479		<li>S->N at 310: in dbSNP:rs11582005</li><li>V->A at 354: in dbSNP:rs4494160</li><li>N->S at 368: in dbSNP:rs3006870</li><li>P->L at 686: in dbSNP:rs1277017</li>									<li>rs11582005</li><li>rs3006870</li><li>rs1277017</li><li>rs4494160</li>	2
Q5VTM1	100132929		<li>V->L at 35: in dbSNP:rs7079587</li>									rs7079587	2
Q5VTQ0	158219		<li>T->P at 62: in dbSNP:rs10961917</li><li>V->I at 354: in dbSNP:rs1407977</li>									<li>rs1407977</li><li>rs10961917</li>	2
Q5VTT5	127294		<li>D->H at 258: in dbSNP:rs4319261</li><li>T->M at 266: in dbSNP:rs6678540</li><li>M->T at 344: in dbSNP:rs4233050</li><li>Q->R at 435: in dbSNP:rs6700245</li><li>D->G at 528: in dbSNP:rs4393101</li><li>G->R at 662: in dbSNP:rs4320729</li><li>R->Q at 775: in dbSNP:rs12082295</li><li>P->S at 853: in dbSNP:rs35446243</li><li>D->A at 892: in dbSNP:rs36077733</li><li>F->L at 1041: in dbSNP:rs16829083</li><li>I->T at 1066: in dbSNP:rs12145360</li><li>R->Q at 1124: in dbSNP:rs16829071</li>									<li>rs12082295</li><li>rs6678540</li><li>rs4320729</li><li>rs16829071</li><li>rs16829083</li><li>rs6700245</li><li>rs4233050</li><li>rs36077733</li><li>rs35446243</li><li>rs12145360</li><li>rs4393101</li><li>rs4319261</li>	2
Q5VTY9	55733		<li>E->G at 165: in dbSNP:rs2228898</li><li>S->N at 182: in dbSNP:rs2294851</li><li>G->E at 448: in a melanoma cell line; abolishes GTP-binding</li><li>N->S at 450: in a lung cancer cell line</li>			GTP-binding	GO:0005525					<li>rs2228898</li><li>rs2294851</li>	2
Q5VU43	9659		<li>N->S at 13: in dbSNP:rs3010980</li><li>R->L at 25: in dbSNP:rs1664022</li><li>I->T at 49: in dbSNP:rs573724</li><li>A->T at 167: in dbSNP:rs2590120</li><li>R->K at 171: in dbSNP:rs3121544</li><li>E->A at 391: in dbSNP:rs45622240 and dbSNP:rs1324366</li><li>E->V at 410: in dbSNP:rs17425009</li><li>H->R at 482: in dbSNP:rs1698681</li><li>R->H at 681: in dbSNP:rs1629011</li><li>C->R at 708: in dbSNP:rs1628172</li><li>F->I at 1013: in dbSNP:rs1698624</li><li>A->T at 1066: in dbSNP:rs1698647</li><li>K->E at 1359: in dbSNP:rs1747958</li><li>V->E at 1736: in dbSNP:rs1778159</li><li>A->S at 1742: in dbSNP:rs1698605</li>									<li>rs3010980</li><li>rs1628172</li><li>rs1698681</li><li>rs1698605</li><li>rs1629011</li><li>rs2590120</li><li>rs1664022</li><li>rs17425009</li><li>rs1698647</li><li>rs1698624</li><li>rs1778159</li><li>rs573724</li><li>rs3121544</li><li>rs45622240 and dbSNP:rs1324366</li><li>rs1747958</li>	2
Q5VU65	91181		<li>V->I at 1491: in dbSNP:rs11264875</li>									rs11264875	2
Q5VU92	139170		<li>D->G at 19: in dbSNP:rs11095722</li>									rs11095722	2
Q5VU97	57685		<li>M->T at 414: in dbSNP:rs6588100</li>									rs6588100	2
Q5VUA4	24149		<li>S->I at 407: in dbSNP:rs34541323</li><li>N->S at 812: in a breast cancer sample; somatic mutation</li><li>L->V at 870: in dbSNP:rs9357410</li><li>G->R at 1274: in a breast cancer sample; somatic mutation</li><li>T->I at 1292: in dbSNP:rs10948072</li><li>A->T at 1580: in dbSNP:rs3734684</li><li>T->I at 1583: in dbSNP:rs36107018</li><li>V->A at 1797: in dbSNP:rs1459675</li>									<li>rs10948072</li><li>rs9357410</li><li>rs1459675</li><li>rs3734684</li><li>rs36107018</li><li>rs34541323</li>	2
Q5VUB5	221061		<li>P->S at 465: in dbSNP:rs3814165</li>									rs3814165	2
Q5VUD6	138311		<li>G->S at 158: in dbSNP:rs945384</li>									rs945384	2
Q5VUG0	57713		<li>P->R at 675: in dbSNP:rs3740212</li>									rs3740212	2
Q5VUM1	135154		<li>Q->R at 46: in dbSNP:rs1048886</li><li>R->C at 57: in dbSNP:rs34711085</li>									<li>rs34711085</li><li>rs1048886</li>	2
Q5VV42	54901		<li>K->R at 484: in dbSNP:rs9460608</li>									rs9460608	2
Q5VV43	9856		<li>T->P at 142: in dbSNP:rs4576240</li><li>A->T at 311: in DYX2; dbSNP:rs4504469, MIM: 600202</li><li>G->S at 567: in dbSNP:rs2744559, MIM: 600202</li><li>S->G at 773: in dbSNP:rs2744550, MIM: 600202</li><li>V->A at 774: in dbSNP:rs2817191, MIM: 600202</li><li>G->A at 919: in dbSNP:rs10946705, MIM: 600202</li><li>Y->C at 1013: in dbSNP:rs807534, MIM: 600202</li>								Dyslexia (DYX2) [MIM:600202]	<li>rs10946705</li><li>rs2744559</li><li>rs4504469</li><li>rs807534</li><li>rs2817191</li><li>rs4576240</li><li>rs2744550</li>	2
Q5VV63	26033		<li>S->N at 989: in dbSNP:rs1953758</li>									rs1953758	2
Q5VV67	23082		<li>S->G at 536: in dbSNP:rs17114388</li><li>P->R at 834: in dbSNP:rs17855877</li>									<li>rs17855877</li><li>rs17114388</li>	2
Q5VVB8	253582		<li>N->I at 60: in dbSNP:rs7760577</li><li>F->L at 80: in dbSNP:rs4629709</li><li>E->G at 86: in dbSNP:rs9492393</li><li>F->V at 111: in dbSNP:rs7776426</li>									<li>rs7760577</li><li>rs4629709</li><li>rs7776426</li><li>rs9492393</li>	2
Q5VVJ2	114803	<ul><li>D->N at 669: Abolishes H2A deubiquitination</li></ul>	<li>C->S at 200: in dbSNP:rs17118103</li><li>T->A at 264: in dbSNP:rs12139511</li><li>E->K at 825: in dbSNP:rs232777</li>	deubiquitination	GO:0016579							<li>rs12139511</li><li>rs232777</li><li>rs17118103</li>	3
Q5VVM6	728621		<li>H->N at 772: in dbSNP:rs16829829</li>									rs16829829	2
Q5VVW2	84253		<li>H->R at 108: in dbSNP:rs11550746</li><li>A->S at 752: in dbSNP:rs34608132</li>									<li>rs34608132</li><li>rs11550746</li>	2
Q5VVY1			<li>S->P at 148: in dbSNP:rs6427235</li>									rs6427235	2
Q5VW36	54914		<li>L->S at 166: in dbSNP:rs10511687</li><li>V->I at 234: in dbSNP:rs10441706</li><li>I->V at 523: in dbSNP:rs17832431</li><li>T->S at 718: in dbSNP:rs7875872</li><li>E->K at 721: in dbSNP:rs10964742</li><li>T->P at 1373: in dbSNP:rs3206852</li><li>K->E at 1668: in dbSNP:rs4977881</li>									<li>rs10511687</li><li>rs10964742</li><li>rs17832431</li><li>rs10441706</li><li>rs4977881</li><li>rs7875872</li><li>rs3206852</li>	2
Q5VW38	57720		<li>A->P at 189: in dbSNP:rs640343</li>									rs640343	2
Q5VWC8	401494		<li>T->A at 36: in dbSNP:rs2298260</li>									rs2298260	2
Q5VWI1	256536		<li>P->Q at 339: in dbSNP:rs17857275</li><li>K->T at 437: in a colorectal cancer sample; somatic mutation</li><li>E->K at 529: in dbSNP:rs17857276</li><li>Q->K at 566: in dbSNP:rs17854242</li>									<li>rs17857275</li><li>rs17857276</li><li>rs17854242</li>	2
Q5VWJ9	401548		<li>D->H at 83: in dbSNP:rs2796036</li><li>P->A at 125: in dbSNP:rs10117709</li>									<li>rs10117709</li><li>rs2796036</li>	2
Q5VWK5	149233		<li>Q->H at 3: in dbSNP:rs1884444</li><li>T->N at 175: in dbSNP:rs11465797</li><li>P->L at 310: in dbSNP:rs7530511</li><li>R->Q at 381: associated with IBD17; has a protective effect against Crohn disease and psoriasis; dbSNP:rs11209026</li>									<li>rs11465797</li><li>rs11209026</li><li>rs1884444</li><li>rs7530511</li>	2
Q5VWN6	54906		<li>C->G at 499: in dbSNP:rs2254067</li><li>A->D at 630: in dbSNP:rs4748636</li><li>R->P at 1075: in dbSNP:rs2797491</li><li>V->M at 1206: in dbSNP:rs3814196</li><li>P->S at 1578: in dbSNP:rs17143175</li><li>V->A at 1679: in dbSNP:rs2669142</li><li>T->I at 1782: in dbSNP:rs11593253</li><li>K->R at 2288: in dbSNP:rs2275774</li><li>S->N at 2404: in dbSNP:rs2797501</li>									<li>rs17143175</li><li>rs2797501</li><li>rs2797491</li><li>rs4748636</li><li>rs11593253</li><li>rs2275774</li><li>rs3814196</li><li>rs2669142</li><li>rs2254067</li>	2
Q5VWP3	90523		<li>R->H at 6: in dbSNP:rs17625497</li><li>I->V at 159: in dbSNP:rs4712056</li><li>T->S at 320: in dbSNP:rs6934690</li>									<li>rs4712056</li><li>rs17625497</li><li>rs6934690</li>	2
Q5VWT5	199920		<li>I->M at 125: in dbSNP:rs17114336</li>									rs17114336	2
Q5VWX1	202559		<li>G->A at 308: in dbSNP:rs7449840</li>									rs7449840	2
Q5VWZ2	127018		<li>I->M at 131: in dbSNP:rs940570</li>									rs940570	2
Q5VX52	64173		<li>V->L at 153: in dbSNP:rs10493753</li>									rs10493753	2
Q5VXI9	643418		<li>T->N at 244: in dbSNP:rs10788611</li>									rs10788611	2
Q5VXJ0	643414		<li>M->I at 331: in dbSNP:rs1214464</li><li>I->T at 391: in dbSNP:rs17112457</li>									<li>rs17112457</li><li>rs1214464</li>	2
Q5VXM1	200008		<li>G->R at 244: in dbSNP:rs3766465</li>									rs3766465	2
Q5VXU9	158401		<li>T->S at 226: in dbSNP:rs10981047</li><li>H->R at 416: in dbSNP:rs7470491</li><li>I->T at 649: in dbSNP:rs1322257</li><li>M->L at 734: in dbSNP:rs11791445</li><li>R->K at 788: in dbSNP:rs7868266</li><li>N->K at 809: in dbSNP:rs7036568</li><li>Y->C at 932: in dbSNP:rs1407390</li><li>L->P at 968: in dbSNP:rs6477845</li><li>I->T at 1162: in dbSNP:rs1475110</li><li>E->G at 1174: in dbSNP:rs7869279</li><li>N->K at 1380: in dbSNP:rs1322254</li><li>R->C at 1425: in dbSNP:rs10981009</li>									<li>rs1407390</li><li>rs7470491</li><li>rs1475110</li><li>rs6477845</li><li>rs10981009</li><li>rs1322254</li><li>rs7868266</li><li>rs11791445</li><li>rs1322257</li><li>rs10981047</li><li>rs7869279</li><li>rs7036568</li>	2
Q5VY09	51278		<li>R->H at 92: in dbSNP:rs3747955</li><li>V->I at 168: in dbSNP:rs3747954</li><li>R->G at 194: in dbSNP:rs1416829</li><li>Q->R at 202: in dbSNP:rs1361365</li><li>P->S at 285: in dbSNP:rs3747951</li>									<li>rs3747951</li><li>rs1416829</li><li>rs1361365</li><li>rs3747955</li><li>rs3747954</li>	2
Q5VY43	375033		<li>S->P at 234: in dbSNP:rs1952294</li><li>R->H at 885: in dbSNP:rs11264581</li><li>N->D at 903: in dbSNP:rs12137505</li>									<li>rs11264581</li><li>rs1952294</li><li>rs12137505</li>	2
Q5VY80	154064		<li>R->G at 26: in dbSNP:rs1543547</li><li>M->T at 85: in dbSNP:rs912565</li><li>L->R at 106: in dbSNP:rs1555696</li>									<li>rs912565</li><li>rs1555696</li><li>rs1543547</li>	2
Q5VYJ5			<li>D->A at 318: in dbSNP:rs7100382</li><li>I->V at 329: in dbSNP:rs7100403</li><li>K->N at 409: in dbSNP:rs1609746</li><li>V->A at 469: in dbSNP:rs10827306</li><li>D->G at 565: in dbSNP:rs12773592</li><li>E->K at 568: in dbSNP:rs12771333</li><li>T->M at 673: in dbSNP:rs10763974</li><li>V->I at 714: in dbSNP:rs10763975</li><li>K->E at 789: in dbSNP:rs2184035</li><li>L->I at 805: in dbSNP:rs16918863</li><li>H->Q at 843: in dbSNP:rs12256835</li><li>M->T at 929: in dbSNP:rs7100661</li><li>P->S at 1017: in dbSNP:rs16919132</li><li>S->N at 1063: in dbSNP:rs10827628</li><li>M->R at 1135: in dbSNP:rs16919148</li>									<li>rs10827306</li><li>rs12773592</li><li>rs10827628</li><li>rs16919132</li><li>rs1609746</li><li>rs2184035</li><li>rs12256835</li><li>rs10763974</li><li>rs7100403</li><li>rs10763975</li><li>rs16919148</li><li>rs12771333</li><li>rs16918863</li><li>rs7100382</li><li>rs7100661</li>	2
Q5VYM1	138724		<li>W->L at 222: in dbSNP:rs615474</li><li>L->F at 285: in dbSNP:rs10117097</li><li>L->V at 437: in dbSNP:rs35523761</li><li>S->T at 623: in dbSNP:rs2298312</li><li>P->S at 916: in dbSNP:rs3739871</li>									<li>rs10117097</li><li>rs3739871</li><li>rs2298312</li><li>rs615474</li><li>rs35523761</li>	2
Q5VYS4	84935		<li>R->G at 59: in dbSNP:rs9531945</li>									rs9531945	2
Q5VYS8	79670		<li>A->V at 40: in dbSNP:rs2378695</li>									rs2378695	2
Q5VYV7	128710		<li>R->Q at 317: in dbSNP:rs6077853</li>									rs6077853	2
Q5VYX0	55328		<li>E->D at 37: in dbSNP:rs2296545</li>									rs2296545	2
Q5VYY1	118932		<li>E->G at 73: in dbSNP:rs17113412</li><li>Y->H at 79: in dbSNP:rs17851907</li><li>Q->P at 148: in dbSNP:rs2304804</li><li>R->I at 177: in dbSNP:rs7912706</li>									<li>rs2304804</li><li>rs7912706</li><li>rs17113412</li><li>rs17851907</li>	2
Q5VYY2	340654		<li>R->W at 418: in dbSNP:rs11202862</li>									rs11202862	2
Q5VZ03	158046		<li>S->C at 76: in dbSNP:rs17852066</li>									rs17852066	2
Q5VZ19	126668		<li>R->Q at 102: in dbSNP:rs12750774</li><li>V->I at 136: in dbSNP:rs3811448</li>									<li>rs12750774</li><li>rs3811448</li>	2
Q5VZ46	57710		<li>H->Y at 214: in dbSNP:rs3747959</li><li>R->W at 740: in dbSNP:rs17302207</li><li>L->F at 801: in dbSNP:rs3795504</li><li>D->N at 1078: in dbSNP:rs2331995</li>									<li>rs3795504</li><li>rs2331995</li><li>rs17302207</li><li>rs3747959</li>	2
Q5VZ66	282973		<li>M->V at 493: in dbSNP:rs11592585</li><li>R->G at 795: in a breast cancer sample; somatic mutation</li>									rs11592585	2
Q5VZ89	55667		<li>T->A at 1030: in dbSNP:rs17818730</li><li>N->H at 1107: in dbSNP:rs6475322</li>									<li>rs6475322</li><li>rs17818730</li>	2
Q5VZB9	63951		<li>R->C at 342: in a colorectal cancer sample; somatic mutation</li>										2
Q5VZK9			<li>V->I at 77: in dbSNP:rs9358856</li><li>P->L at 545: in dbSNP:rs12207840</li><li>A->G at 639: in dbSNP:rs7454756</li><li>N->S at 1117: in dbSNP:rs9885914</li>									<li>rs7454756</li><li>rs12207840</li><li>rs9358856</li><li>rs9885914</li>	2
Q5VZL5	9202		<li>V->I at 452: in dbSNP:rs34924462</li><li>R->W at 1410: in a colorectal cancer sample; somatic mutation</li>									rs34924462	2
Q5VZP5	92235		<li>E->D at 265: in dbSNP:rs267745</li><li>R->H at 466: in dbSNP:rs6668826</li><li>A->T at 505: in dbSNP:rs3795605</li><li>K->Q at 855: in dbSNP:rs267746</li><li>T->N at 1124: in dbSNP:rs2281959</li>									<li>rs2281959</li><li>rs3795605</li><li>rs6668826</li><li>rs267745</li><li>rs267746</li>	2
Q5VZT2	387638		<li>R->G at 62: in dbSNP:rs11591355</li><li>D->H at 100: in dbSNP:rs625223</li>									<li>rs11591355</li><li>rs625223</li>	2
Q5VZV1	196541		<li>N->S at 46: in dbSNP:rs16960383</li>									rs16960383	2
Q5W041	219681		<li>E->G at 345: in dbSNP:rs16922864</li><li>S->P at 608: in dbSNP:rs11013233</li><li>R->Q at 626: in dbSNP:rs10828395</li>									<li>rs16922864</li><li>rs10828395</li><li>rs11013233</li>	2
Q5W064	142910		<li>V->I at 210: in dbSNP:rs1409136</li>									rs1409136	2
Q5W0A0	220081		<li>E->D at 63: in dbSNP:rs12020217</li><li>E->G at 99: in dbSNP:rs12020731</li><li>S->T at 174: in dbSNP:rs17066954</li><li>E->K at 178: in dbSNP:rs3014939</li><li>L->P at 303: in dbSNP:rs11618506</li><li>T->I at 427: in dbSNP:rs749071</li><li>P->R at 439: in dbSNP:rs12429125</li><li>H->R at 453: in dbSNP:rs17066902</li><li>R->C at 565: in dbSNP:rs7327901</li><li>V->F at 653: in dbSNP:rs1536207</li>									<li>rs12020731</li><li>rs7327901</li><li>rs17066902</li><li>rs11618506</li><li>rs12020217</li><li>rs1536207</li><li>rs12429125</li><li>rs749071</li><li>rs17066954</li><li>rs3014939</li>	2
Q5W0Q7	10208		<li>E->G at 173: in dbSNP:rs17853512</li><li>P->S at 384: in dbSNP:rs3742303</li><li>A->P at 522: in dbSNP:rs17609459</li><li>L->S at 531: in dbSNP:rs7984952</li><li>I->V at 583: in dbSNP:rs41412648</li><li>S->C at 739: in dbSNP:rs9578190</li><li>L->I at 786: in dbSNP:rs35371042</li><li>S->N at 950: in dbSNP:rs3742302</li><li>T->S at 1043: in dbSNP:rs17857086</li>									<li>rs17857086</li><li>rs17853512</li><li>rs35371042</li><li>rs41412648</li><li>rs7984952</li><li>rs9578190</li><li>rs17609459</li><li>rs3742303</li><li>rs3742302</li>	2
Q5W0U4	54836		<li>A->P at 261: in dbSNP:rs34089316</li><li>Q->H at 293: in dbSNP:rs818711</li><li>T->I at 374: in dbSNP:rs3088235</li>									<li>rs818711</li><li>rs34089316</li><li>rs3088235</li>	2
Q5W0V3	57700		<li>L->I at 408: in dbSNP:rs17853717</li><li>F->L at 631: in dbSNP:rs3180654</li>									<li>rs17853717</li><li>rs3180654</li>	2
Q5W186	128822		<li>L->F at 48: in dbSNP:rs2983640</li>									rs2983640	2
Q5XG87	11044		<li>N->S at 326: in dbSNP:rs28381415</li><li>G->S at 396: in dbSNP:rs28381418</li>									<li>rs28381415</li><li>rs28381418</li>	2
Q5XG99			<li>A->V at 157: in dbSNP:rs8041089</li><li>A->V at 161: in dbSNP:rs8041078</li><li>A->G at 180: in dbSNP:rs2061007</li>									<li>rs8041089</li><li>rs8041078</li><li>rs2061007</li>	2
Q5XKE5	338785		<li>S->L at 81: in dbSNP:rs2638497</li><li>F->L at 195: in dbSNP:rs17855862</li><li>H->R at 266: in dbSNP:rs17688672</li><li>A->V at 393: in dbSNP:rs17688627</li>									<li>rs17688672</li><li>rs17855862</li><li>rs17688627</li><li>rs2638497</li>	2
Q5XKL5	284697		<li>V->I at 60: in dbSNP:rs34856868</li><li>K->R at 136: in dbSNP:rs17131602</li>									<li>rs34856868</li><li>rs17131602</li>	2
Q5XPI4	63891		<li>P->R at 51: in dbSNP:rs2960546</li><li>R->Q at 387: in dbSNP:rs35620248</li><li>K->E at 596: in dbSNP:rs35726701</li><li>R->H at 854: in dbSNP:rs34823813</li>									<li>rs34823813</li><li>rs35726701</li><li>rs2960546</li><li>rs35620248</li>	2
Q5XX13	10517		<li>I->N at 23: in dbSNP:rs11544711</li><li>A->T at 821: in dbSNP:rs1026259</li>									<li>rs1026259</li><li>rs11544711</li>	2
Q5XXA6	55107		<li>F->S at 608: in dbSNP:rs2186797</li><li>G->R at 983: in dbSNP:rs3740722</li>									<li>rs3740722</li><li>rs2186797</li>	2
Q5ZPR3	80381		<li>P->L at 97: in dbSNP:rs7173448</li><li>R->S at 111: in dbSNP:rs7173476</li><li>Q->L at 137: in dbSNP:rs11574477</li><li>T->M at 160: in dbSNP:rs11574479</li><li>R->H at 267: in dbSNP:rs11574483</li><li>A->T at 279: in dbSNP:rs10083681</li><li>P->L at 315: in dbSNP:rs7173448</li><li>R->S at 329: in dbSNP:rs7173476</li><li>T->M at 378: in dbSNP:rs11574479</li>									<li>rs11574483</li><li>rs11574479</li><li>rs10083681</li><li>rs7173476</li><li>rs7173448</li><li>rs11574477</li>	2
Q60I27	259173		<li>E->Q at 45: in dbSNP:rs7642448</li><li>Q->E at 280: in a breast cancer sample; somatic mutation</li><li>L->F at 576: in a breast cancer sample; somatic mutation</li>									rs7642448	2
Q63HK3	342357		<li>L->F at 253: in dbSNP:rs2112811</li><li>E->D at 615: in dbSNP:rs8059494</li>									<li>rs2112811</li><li>rs8059494</li>	2
Q63HK5	57616		<li>P->L at 687: in dbSNP:rs4805664</li>									rs4805664	2
Q63HM2	64430		<li>Q->H at 770: in dbSNP:rs3742642</li><li>D->Y at 811: in dbSNP:rs12895606</li><li>G->S at 1000: in dbSNP:rs167437</li>									<li>rs12895606</li><li>rs3742642</li><li>rs167437</li>	2
Q63HN1			<li>N->K at 72: in dbSNP:rs521552</li><li>D->E at 203: in dbSNP:rs524512</li><li>V->M at 229: in dbSNP:rs516485</li>									<li>rs524512</li><li>rs521552</li><li>rs516485</li>	2
Q63HN8	57674		<li>S->N at 407: in dbSNP:rs9674961</li><li>V->L at 1911: in dbSNP:rs35332090</li><li>H->R at 2764: in dbSNP:rs12944088</li><li>K->E at 2805: in dbSNP:rs12944385</li><li>V->I at 3101: in dbSNP:rs8072774</li>									<li>rs12944088</li><li>rs35332090</li><li>rs9674961</li><li>rs8072774</li><li>rs12944385</li>	2
Q63HQ0	55435		<li>T->I at 297: in dbSNP:rs34900583</li>									rs34900583	2
Q63HQ2	133584		<li>R->H at 111: in dbSNP:rs2561111</li><li>W->R at 229: in dbSNP:rs1465567</li><li>T->M at 473: in dbSNP:rs16903965</li><li>H->N at 576: in dbSNP:rs6897179</li>									<li>rs2561111</li><li>rs6897179</li><li>rs16903965</li><li>rs1465567</li>	2
Q63ZY3	25959		<li>G->S at 118: in dbSNP:rs755237</li><li>M->T at 401: in dbSNP:rs17616661</li>									<li>rs755237</li><li>rs17616661</li>	2
Q63ZY6	260294		<li>W->S at 47: in dbSNP:rs400282</li><li>A->V at 90: in dbSNP:rs395127</li><li>C->R at 272: in dbSNP:rs17145838</li><li>K->R at 303: in dbSNP:rs7056</li>									<li>rs400282</li><li>rs17145838</li><li>rs395127</li><li>rs7056</li>	2
Q64LD2	79446		<li>K->R at 59: in dbSNP:rs2273801</li><li>W->R at 88: in dbSNP:rs2181170</li><li>H->R at 149: in dbSNP:rs2273800</li>									<li>rs2273801</li><li>rs2273800</li><li>rs2181170</li>	2
Q658L1	283726		<li>S->G at 8: in dbSNP:rs11631813</li><li>P->L at 34: in dbSNP:rs16973457</li><li>W->R at 225: in dbSNP:rs11630197</li>									<li>rs16973457</li><li>rs11631813</li><li>rs11630197</li>	2
Q658N2	23302		<li>H->Y at 212: in dbSNP:rs17855415</li>									rs17855415	2
Q658P3	55240		<li>A->T at 184: in dbSNP:rs17013371</li>									rs17013371	2
Q659C4	55132		<li>P->R at 462: in dbSNP:rs12508837</li><li>R->H at 660: in dbSNP:rs12645577</li>									<li>rs12508837</li><li>rs12645577</li>	2
Q66K14	23061		<li>L->P at 240: in dbSNP:rs1057078</li><li>V->I at 706: in dbSNP:rs10037618</li><li>P->Q at 1086: in a breast cancer sample; somatic mutation</li><li>T->K at 1119: in dbSNP:rs30386</li>									<li>rs30386</li><li>rs1057078</li><li>rs10037618</li>	2
Q66K74	55201		<li>L->V at 372: in dbSNP:rs17710707</li><li>S->C at 411: in dbSNP:rs17710707</li><li>P->Q at 538: in dbSNP:rs7252905</li>									<li>rs17710707</li><li>rs7252905</li>	2
Q66K79	8532		<li>P->L at 5: in dbSNP:rs2302583</li><li>P->L at 6: in dbSNP:rs34964084</li><li>Q->L at 130: in dbSNP:rs35993494</li><li>T->I at 486: in dbSNP:rs7378066</li><li>T->M at 501: in dbSNP:rs9991535</li>									<li>rs2302583</li><li>rs7378066</li><li>rs9991535</li><li>rs35993494</li><li>rs34964084</li>	2
Q66K80	284618		<li>R->S at 231: in dbSNP:rs16836822</li>									rs16836822	2
Q676U5	55054		<li>T->A at 300: associated with susceptibility to IBD10; dbSNP:rs2241880</li><li>E->K at 307: in dbSNP:rs1866878</li>									<li>rs1866878</li><li>rs2241880</li>	2
Q67FW5	146712		<li>A->T at 341: in dbSNP:rs7225887</li>									rs7225887	2
Q685J3	140453		<li>K->Q at 227: in dbSNP:rs10229731</li><li>G->E at 272: in dbSNP:rs10259584</li><li>R->S at 942: in dbSNP:rs10238201</li><li>T->M at 982: in dbSNP:rs4729646</li><li>I->T at 1130: in dbSNP:rs4729647</li><li>S->T at 1242: in dbSNP:rs10265276</li><li>T->N at 1246: in dbSNP:rs4729652</li><li>T->S at 1246: in dbSNP:rs4729651</li><li>P->A at 1249: in dbSNP:rs4729653</li><li>L->P at 1348: in dbSNP:rs4269454</li><li>C->R at 1375: in dbSNP:rs4367469</li><li>D->N at 4334: in dbSNP:rs6946812</li><li>R->Q at 4482: in dbSNP:rs9656065</li>									<li>rs9656065</li><li>rs10259584</li><li>rs10238201</li><li>rs4729652</li><li>rs4729653</li><li>rs6946812</li><li>rs4729647</li><li>rs10265276</li><li>rs10229731</li><li>rs4729646</li><li>rs4269454</li><li>rs4367469</li><li>rs4729651</li>	2
Q687X5	79689		<li>G->D at 75: in dbSNP:rs1981529</li><li>A->T at 122: in dbSNP:rs34741656</li>									<li>rs1981529</li><li>rs34741656</li>	2
Q68BL7	169611		<li>T->A at 309: in dbSNP:rs7874348</li><li>R->Q at 425: in dbSNP:rs16927649</li>									<li>rs7874348</li><li>rs16927649</li>	2
Q68BL8	25903		<li>Y->C at 10: in dbSNP:rs12130792</li><li>W->R at 470: in dbSNP:rs2499836</li>									<li>rs2499836</li><li>rs12130792</li>	2
Q68CJ6	389643		<li>P->R at 23: in dbSNP:rs6998705</li><li>S->G at 180: in dbSNP:rs4732620</li><li>R->Q at 328: in dbSNP:rs7817227</li><li>S->N at 474: in dbSNP:rs13279787</li>									<li>rs4732620</li><li>rs6998705</li><li>rs13279787</li><li>rs7817227</li>	2
Q68CL5	25941		<li>R->C at 47: in dbSNP:rs2303507</li>									rs2303507	2
Q68CP4			<li>P->L at 311: in MPS3C, MIM: 252930</li><li>R->C at 372: in MPS3C, MIM: 252930</li><li>G->S at 452: in MPS3C, MIM: 252930</li><li>E->K at 499: in MPS3C, MIM: 252930</li><li>M->K at 510: in MPS3C, MIM: 252930</li><li>S->L at 569: in MPS3C, MIM: 252930</li><li>D->V at 590: in MPS3C, MIM: 252930</li><li>P->L at 599: in MPS3C, MIM: 252930</li>								Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]		2
Q68CQ1	374977		<li>H->R at 182: in dbSNP:rs11206407</li><li>S->Y at 183: in a breast cancer sample; somatic mutation</li><li>V->M at 290: in dbSNP:rs12094920</li><li>Y->D at 306: in dbSNP:rs1655519</li><li>S->F at 312: in dbSNP:rs17399810</li><li>E->G at 316: in dbSNP:rs1655518</li><li>T->M at 352: in dbSNP:rs12074499</li><li>K->R at 455: in dbSNP:rs2304314</li><li>V->A at 509: in dbSNP:rs480963</li><li>R->H at 618: in dbSNP:rs570218</li>									<li>rs480963</li><li>rs2304314</li><li>rs1655518</li><li>rs17399810</li><li>rs1655519</li><li>rs570218</li><li>rs12094920</li><li>rs11206407</li><li>rs12074499</li>	2
Q68CQ4	27042		<li>Q->E at 67: in dbSNP:rs585627</li>									rs585627	2
Q68CQ7	55830		<li>R->H at 210: in dbSNP:rs2276812</li>									rs2276812	2
Q68CR1	23231		<li>Q->R at 107: in dbSNP:rs16877661</li><li>I->V at 401: in dbSNP:rs16877591</li><li>I->V at 554: in dbSNP:rs16877591</li><li>W->C at 1054: in dbSNP:rs2286866</li><li>P->S at 1122: in dbSNP:rs7671168</li>									<li>rs16877661</li><li>rs16877591</li><li>rs2286866</li><li>rs7671168</li>	2
Q68CR7	339977		<li>G->A at 342: in dbSNP:rs17081784</li>									rs17081784	2
Q68CZ1	23322		<li>T->P at 615: in JBTS7; affects interaction with NPHP4, MIM: 611560</li><li>T->I at 677: in a patient with cystic kidney dysplasia, retinitis pigmentosa and cerebellar ataxia without molar tooth sign; affects interaction with NPHP4, MIM: 611560</li><li>A->P at 695: in JBTS7; seems not to affect interaction with NPHP4, MIM: 611560</li><li>R->Q at 744: in dbSNP:rs2302677, MIM: 611560</li><li>G->S at 1025: in dbSNP:rs2111119, MIM: 611560</li><li>D->N at 1264: in dbSNP:rs3213758, MIM: 611560</li>							O75161	Joubert syndrome type 7 (JBTS7) [MIM:611560]	<li>rs3213758</li><li>rs2111119</li><li>rs2302677</li>	2
Q68CZ2	64759		<li>Q->H at 600: in dbSNP:rs2293362</li><li>G->S at 679: in dbSNP:rs7808646</li><li>E->K at 1034: in dbSNP:rs3807590</li>									<li>rs7808646</li><li>rs3807590</li><li>rs2293362</li>	2
Q68CZ6	79441		<li>I->T at 586: in dbSNP:rs11937432</li>									rs11937432	2
Q68D06	146857		<li>N->S at 4: in dbSNP:rs12943866</li><li>A->T at 50: in dbSNP:rs7216628</li><li>P->L at 433: in dbSNP:rs16970912</li><li>D->V at 642: in dbSNP:rs11657183</li><li>E->K at 652: in dbSNP:rs3744371</li>									<li>rs11657183</li><li>rs12943866</li><li>rs3744371</li><li>rs7216628</li><li>rs16970912</li>	2
Q68D10	144108		<li>S->F at 317: in dbSNP:rs12795406</li><li>R->Q at 447: in dbSNP:rs16935599</li><li>K->R at 617: in dbSNP:rs35411689</li>									<li>rs16935599</li><li>rs12795406</li><li>rs35411689</li>	2
Q68D51	163259		<li>D->E at 2: in dbSNP:rs7541738</li><li>D->G at 170: in dbSNP:rs12136548</li>									<li>rs12136548</li><li>rs7541738</li>	2
Q68D86	79839		<li>K->N at 153: in dbSNP:rs572020</li><li>K->R at 298: in dbSNP:rs2187094</li><li>C->F at 346: in dbSNP:rs745894</li><li>E->G at 370: in dbSNP:rs34102373</li><li>N->K at 425: in dbSNP:rs17080065</li><li>A->P at 429: in dbSNP:rs9963788</li>									<li>rs17080065</li><li>rs34102373</li><li>rs9963788</li><li>rs2187094</li><li>rs745894</li><li>rs572020</li>	2
Q68D91	153364		<li>A->T at 128: in dbSNP:rs2162986</li>									rs2162986	2
Q68DA7			<li>L->P at 686: in dbSNP:rs2306277</li>									rs2306277	2
Q68DC2	203286		<li>V->I at 644: in dbSNP:rs6415847</li>									rs6415847	2
Q68DD2	255189		<li>G->V at 30: in dbSNP:rs636604</li><li>V->M at 740: in dbSNP:rs1356410</li>									<li>rs1356410</li><li>rs636604</li>	2
Q68DE3			<li>A->P at 222: in dbSNP:rs9866806</li><li>A->V at 1963: in dbSNP:rs2290477</li>									<li>rs9866806</li><li>rs2290477</li>	2
Q68DK2	23503		<li>K->E at 429: in dbSNP:rs34059852</li><li>T->S at 898: in dbSNP:rs17192170</li><li>T->M at 951: in dbSNP:rs35471427</li><li>S->N at 1071: in dbSNP:rs7156206</li><li>P->L at 1103: in dbSNP:rs3742885</li><li>A->V at 1122: in dbSNP:rs3742884</li><li>A->E at 1164: in a breast cancer sample; somatic mutation</li><li>Y->C at 1457: in dbSNP:rs2235967</li><li>S->N at 1891: in dbSNP:rs3742883</li><li>R->Q at 1945: in a breast cancer sample; somatic mutation</li><li>R->H at 2411: in dbSNP:rs34373049</li>									<li>rs2235967</li><li>rs3742885</li><li>rs17192170</li><li>rs3742883</li><li>rs34059852</li><li>rs3742884</li><li>rs35471427</li><li>rs34373049</li><li>rs7156206</li>	2
Q68DN1	84226		<li>R->G at 357: in dbSNP:rs17006143</li><li>D->V at 505: in dbSNP:rs13410886</li><li>T->S at 655: in dbSNP:rs1919125</li><li>A->E at 660: in dbSNP:rs1919126</li><li>V->A at 685: in dbSNP:rs1919127</li><li>I->T at 767: in dbSNP:rs13416968</li><li>I->V at 774: in dbSNP:rs1919128</li><li>S->F at 1500: in dbSNP:rs12618071</li><li>H->Y at 1559: in dbSNP:rs13392197</li><li>N->S at 1613: in dbSNP:rs13031957</li><li>S->P at 1665: in dbSNP:rs28381983</li>									<li>rs28381983</li><li>rs13392197</li><li>rs1919125</li><li>rs17006143</li><li>rs13031957</li><li>rs12618071</li><li>rs1919127</li><li>rs13416968</li><li>rs1919126</li><li>rs1919128</li><li>rs13410886</li>	2
Q68DQ2	131544		<li>R->H at 433: in dbSNP:rs11918990</li><li>Y->C at 761: in dbSNP:rs17302349</li><li>N->H at 926: in dbSNP:rs4857302</li>									<li>rs11918990</li><li>rs4857302</li><li>rs17302349</li>	2
Q68DV7	54894		<li>I->V at 47: in dbSNP:rs3744093</li><li>R->H at 117: in dbSNP:rs2257205</li><li>R->Q at 221: in dbSNP:rs2285990</li><li>P->L at 231: in dbSNP:rs2680701</li><li>R->H at 343: in dbSNP:rs34523089</li><li>L->M at 418: in dbSNP:rs2526374</li><li>P->R at 686: in dbSNP:rs9652855</li>									<li>rs3744093</li><li>rs2526374</li><li>rs2285990</li><li>rs34523089</li><li>rs9652855</li><li>rs2680701</li><li>rs2257205</li>	2
Q68DX3	143162		<li>R->W at 727: in a colorectal cancer sample; somatic mutation</li>										2
Q68DY1	199777		<li>N->D at 31: in dbSNP:rs3206157</li><li>M->T at 65: in dbSNP:rs8106117</li><li>N->H at 68: in dbSNP:rs3209058</li><li>Q->E at 89: in dbSNP:rs8111015</li><li>S->N at 90: in dbSNP:rs8110802</li><li>C->Y at 464: in dbSNP:rs4809072</li><li>E->K at 500: in dbSNP:rs10408597</li>									<li>rs8106117</li><li>rs3209058</li><li>rs10408597</li><li>rs3206157</li><li>rs8111015</li><li>rs4809072</li><li>rs8110802</li>	2
Q68DY9	400720		<li>C->W at 182: in dbSNP:rs2074060</li><li>M->L at 218: in dbSNP:rs2074059</li>									<li>rs2074060</li><li>rs2074059</li>	2
Q68EA5	126295		<li>T->N at 223: in dbSNP:rs2288958</li><li>R->W at 230: in dbSNP:rs2288957</li>									<li>rs2288957</li><li>rs2288958</li>	2
Q68G75	93273		<li>P->S at 25: in dbSNP:rs7531012</li>									rs7531012	2
Q68J44	338599		<li>D->N at 66: in dbSNP:rs11594934</li><li>S->R at 137: in dbSNP:rs16931938</li>									<li>rs11594934</li><li>rs16931938</li>	2
Q693B1	147040		<li>G->S at 22: in dbSNP:rs8080182</li>									rs8080182	2
Q695T7	340024		<li>R->C at 57: in HND; abolishes transport activity, MIM: 234500</li><li>D->N at 173: in HND; population allele frequency among Europeans is 0.007; reduces transport activity by 50% but does not completely inactivates the transporter, MIM: 234500</li><li>R->Q at 240, MIM: 234500</li><li>L->P at 242: in HND; completely abolishes the transport activity, MIM: 234500</li><li>V->I at 252: in dbSNP:rs7732589, MIM: 234500</li><li>E->K at 501: in HND; completely abolishes the transport activity, MIM: 234500</li>	transport	GO:0006810						Hartnup disorder (HND) [MIM:234500]	rs7732589	2
Q69YN2	55280		<li>C->Y at 160: in dbSNP:rs2270962</li><li>P->L at 259: in dbSNP:rs7073610</li><li>R->H at 523: in dbSNP:rs35490714</li><li>R->Q at 526: in dbSNP:rs7922946</li>									<li>rs35490714</li><li>rs7073610</li><li>rs2270962</li><li>rs7922946</li>	2
Q69YN4	25962		<li>I->V at 753: in dbSNP:rs7814840</li>									rs7814840	2
Q6A162	125115		<li>T->A at 37: in dbSNP:rs1510069</li><li>F->S at 85: in dbSNP:rs17843015</li><li>S->N at 102: in dbSNP:rs1510068</li><li>T->M at 153: in dbSNP:rs9908304</li><li>R->H at 235: in dbSNP:rs2010027</li><li>C->Y at 265: in dbSNP:rs721957</li><li>E->D at 286: in dbSNP:rs721958</li><li>M->T at 303: in dbSNP:rs9908389</li><li>S->L at 406: in dbSNP:rs16968862</li>									<li>rs1510069</li><li>rs1510068</li><li>rs9908304</li><li>rs17843015</li><li>rs9908389</li><li>rs2010027</li><li>rs16968862</li><li>rs721957</li><li>rs721958</li>	2
Q6A163	390792		<li>T->M at 341: in dbSNP:rs17843021</li><li>L->M at 383: in dbSNP:rs17843023</li><li>R->Q at 456: in dbSNP:rs7213256</li>									<li>rs7213256</li><li>rs17843023</li><li>rs17843021</li>	2
Q6AHZ1	9849		<li>N->H at 946: in dbSNP:rs3814228</li><li>R->Q at 1328: in dbSNP:rs3814226</li>									<li>rs3814228</li><li>rs3814226</li>	2
Q6AI08	63897		<li>A->V at 71: in dbSNP:rs3744376</li><li>S->L at 1006: in dbSNP:rs16943991</li>									<li>rs3744376</li><li>rs16943991</li>	2
Q6AW86	388569		<li>S->G at 63: in dbSNP:rs12611254</li>									rs12611254	2
Q6AWC2	80014		<li>A->S at 773: in dbSNP:rs11941467</li><li>V->F at 816: in dbSNP:rs11734376</li><li>D->H at 904: in dbSNP:rs3814422</li><li>A->T at 1189: in dbSNP:rs4862155</li>									<li>rs4862155</li><li>rs11941467</li><li>rs3814422</li><li>rs11734376</li>	2
Q6AZY7	51435		<li>R->Q at 130: in dbSNP rsrs34791518</li><li>M->T at 325: in dbSNP rsrs33930667</li><li>R->Q at 423: in dbSNP rsrs3735754</li><li>V->I at 428: in dbSNP rsrs34086286</li><li>F->L at 467: in dbSNP:rs17057523</li><li>P->S at 551: in dbSNP rsrs35928641</li>									<li>rs33930667</li><li>rs17057523</li><li>rs35928641</li><li>rs3735754</li><li>rs34086286</li><li>rs34791518</li>	2
Q6AZZ1	55128		<li>C->Y at 442: in dbSNP:rs2231975</li>									rs2231975	2
Q6B0I6			<li>R->Q at 405: in dbSNP:rs3740853</li>									rs3740853	2
Q6B9Z1	444882		<li>L->P at 25: in dbSNP:rs10412490</li><li>R->Q at 60: in dbSNP:rs17271272</li>									<li>rs17271272</li><li>rs10412490</li>	2
Q6BCY4	51700		<li>E->A at 15: in dbSNP:rs11041525</li><li>N->D at 209: in dbSNP:rs12801394</li>									<li>rs11041525</li><li>rs12801394</li>	2
Q6BDI9			<li>D->N at 101: in dbSNP:rs929949</li><li>E->D at 206: in dbSNP:rs12819160</li>									<li>rs929949</li><li>rs12819160</li>	2
Q6BDS2	54887		<li>K->N at 404: in dbSNP:rs16894945</li><li>Q->R at 454: in dbSNP:rs11755393</li><li>K->E at 854: in dbSNP:rs3734265</li><li>Q->H at 984: in dbSNP:rs9469913</li><li>M->T at 1098: in dbSNP:rs13205210</li>									<li>rs13205210</li><li>rs11755393</li><li>rs16894945</li><li>rs9469913</li><li>rs3734265</li>	2
Q6BEB4	389058		<li>A->T at 75: in dbSNP:rs3749036</li>									rs3749036	2
Q6DD87	126208		<li>G->A at 379: in dbSNP:rs4077285</li>									rs4077285	2
Q6DHV5	387707		<li>N->D at 64: in dbSNP:rs17383738</li><li>Y->H at 237: in dbSNP:rs9943393</li><li>Q->L at 322: in dbSNP:rs1336459</li>									<li>rs1336459</li><li>rs9943393</li><li>rs17383738</li>	2
Q6DKI7	79037		<li>N->D at 81: in dbSNP:rs2906645</li>									rs2906645	2
Q6DN12	55784		<li>A->T at 877: in dbSNP:rs34193492</li>									rs34193492	2
Q6DN14	79772		<li>R->K at 612: in dbSNP:rs9885412</li>									rs9885412	2
Q6DN90	9922		<li>P->S at 640: in dbSNP:rs35319679</li><li>V->I at 882: in dbSNP:rs17541405</li>									<li>rs35319679</li><li>rs17541405</li>	2
Q6DT37	55561		<li>P->L at 168: in dbSNP rsrs34454471</li><li>S->F at 280: in a glioblastoma multiforme sample; somatic mutation</li><li>T->P at 362: in dbSNP rsrs55688429</li><li>A->D at 537: in dbSNP rsrs34241745</li>									<li>rs34241745</li><li>rs55688429</li><li>rs34454471</li>	2
Q6E0U4	93099		<li>A->D at 13: in a colorectal cancer sample; somatic mutation</li><li>A->S at 415: in dbSNP:rs2293696</li><li>D->A at 427: in dbSNP:rs909072</li>									<li>rs2293696</li><li>rs909072</li>	2
Q6ECI4	388566		<li>V->L at 23: in dbSNP:rs10421285</li><li>K->R at 254: in dbSNP:rs3752179</li><li>I->T at 418: in dbSNP:rs4801177</li>									<li>rs4801177</li><li>rs10421285</li><li>rs3752179</li>	2
Q6EEV4	81488		<li>A->P at 127: in dbSNP:rs11858659</li>									rs11858659	2
Q6EEV6	387082		<li>M->V at 55: may be associated with susceptibility to type 1 diabetes; greater NFKB1 transcriptional activity and IL12B expression; dbSNP:rs237025</li>							<li>Q865Y3</li><li>Q28234</li><li>Q61729</li><li>Q28938</li><li>Q865W9</li><li>Q91ZK7</li><li>Q04861</li><li>P29460</li><li>P19838</li><li>Q2PE76</li><li>Q28268</li><li>Q924V5</li><li>Q9XSQ5</li><li>P68220</li><li>P68221</li><li>Q8CJE6</li><li>P46282</li><li>P48095</li><li>Q6F3J0</li><li>O02744</li><li>Q866G3</li><li>P46658</li>		rs237025	2
Q6EMK4	114990		<li>E->A at 384: in dbSNP:rs3810818</li>									rs3810818	2
Q6FHJ7	6424		<li>P->T at 320: in dbSNP:rs1802073</li><li>R->K at 340: in dbSNP:rs1802074</li>									<li>rs1802073</li><li>rs1802074</li>	2
Q6FI81	57019		<li>A->E at 34: in dbSNP:rs11557672</li><li>Q->E at 52: in dbSNP:rs11557674</li>									<li>rs11557672</li><li>rs11557674</li>	2
Q6GMV1	200810		<li>D->N at 135: in dbSNP:rs3828357</li><li>I->T at 159: in dbSNP:rs3811679</li><li>G->S at 184: in dbSNP:rs3187686</li>									<li>rs3828357</li><li>rs3187686</li><li>rs3811679</li>	2
Q6GPH4	54739		<li>E->G at 85: in dbSNP:rs34195599</li><li>R->H at 132: in dbSNP:rs2271232</li><li>E->K at 188: in dbSNP:rs34625877</li><li>R->I at 219: in dbSNP:rs3736433</li>									<li>rs34195599</li><li>rs3736433</li><li>rs34625877</li><li>rs2271232</li>	2
Q6GPH6	150771		<li>G->R at 280: in dbSNP:rs17853311</li><li>S->C at 428: in dbSNP:rs35855657</li><li>T->M at 463: in dbSNP:rs2279105</li>									<li>rs2279105</li><li>rs35855657</li><li>rs17853311</li>	2
Q6GTS8	148811		<li>H->Y at 33: in dbSNP:rs11540014</li><li>V->I at 149: in dbSNP:rs1891460</li><li>R->W at 153: in dbSNP:rs1104899</li><li>I->T at 237: in dbSNP:rs7518979</li><li>S->C at 258: in dbSNP:rs11581214</li><li>G->R at 346: in dbSNP:rs11240573</li><li>I->T at 380: in dbSNP:rs1361754</li>									<li>rs1891460</li><li>rs11240573</li><li>rs1361754</li><li>rs11581214</li><li>rs11540014</li><li>rs7518979</li><li>rs1104899</li>	2
Q6GV28	338661		<li>C->R at 196: in dbSNP:rs1939927</li>									rs1939927	2
Q6GYQ0	253959		<li>T->A at 931: in dbSNP:rs2274068</li>									rs2274068	2
Q6H3X3	353091		<li>T->R at 70: in dbSNP:rs9397449</li>									rs9397449	2
Q6H9L7	145501		<li>A->T at 94: in dbSNP:rs3742728</li><li>P->A at 133: in dbSNP:rs11850175</li>									<li>rs11850175</li><li>rs3742728</li>	2
Q6HA08			<li>R->Q at 222: in dbSNP:rs749458</li>									rs749458	2
Q6IA86	55250		<li>T->P at 128: in dbSNP:rs1785934</li><li>V->M at 305: in dbSNP:rs1785928</li><li>H->R at 359: in dbSNP:rs16967474</li><li>I->T at 541: in dbSNP:rs28463092</li><li>T->P at 543: in dbSNP:rs17563617</li><li>E->G at 795: in dbSNP:rs12607773</li><li>H->P at 806: in dbSNP:rs1044128</li><li>T->P at 815: in dbSNP:rs1044134</li>									<li>rs28463092</li><li>rs1044134</li><li>rs1044128</li><li>rs1785928</li><li>rs1785934</li><li>rs12607773</li><li>rs17563617</li><li>rs16967474</li>	2
Q6IAA8	55004		<li>S->L at 73: in dbSNP:rs1053443</li>									rs1053443	2
Q6IB77	10249		<li>S->T at 17: in dbSNP:rs10896818</li><li>S->N at 156: in dbSNP:rs675815</li>									<li>rs10896818</li><li>rs675815</li>	2
Q6IBS0	11344		<li>R->C at 72: in dbSNP:rs35114109</li><li>Q->R at 76: in dbSNP rsrs35711542</li><li>A->T at 103: in a lung neuroendocrine carcinoma sample; somatic mutation</li>									<li>rs35114109</li><li>rs35711542</li>	2
Q6IC83	150297		<li>L->P at 73: in dbSNP:rs5998267</li><li>E->K at 217: in dbSNP:rs41344647</li>									<li>rs5998267</li><li>rs41344647</li>	2
Q6IC98	23151		<li>S->I at 159: in dbSNP rsrs36211078</li>									rs36211078	2
Q6ICB4	150368		<li>A->G at 188: in dbSNP:rs1807493</li>									rs1807493	2
Q6ICG8	164684		<li>Q->E at 5: in dbSNP:rs17002790</li><li>D->G at 121: in dbSNP:rs133335</li><li>C->F at 170: in dbSNP:rs17002802</li><li>Q->H at 285: in dbSNP:rs2301521</li>									<li>rs17002802</li><li>rs133335</li><li>rs17002790</li><li>rs2301521</li>	2
Q6ICL3	128989		<li>D->N at 125: in dbSNP:rs17855650</li><li>E->K at 200: in dbSNP:rs17854107</li><li>D->E at 245: in dbSNP:rs16982614</li>									<li>rs16982614</li><li>rs17855650</li><li>rs17854107</li>	2
Q6IE81	79960		<li>N->S at 662: in dbSNP:rs6855813</li>									rs6855813	2
Q6IEE8			<li>S->L at 307: in dbSNP:rs12451679</li><li>A->G at 405: in dbSNP:rs2304967</li><li>C->Y at 462: in dbSNP:rs2304968</li><li>Y->S at 550: in dbSNP:rs3744372</li>									<li>rs2304967</li><li>rs2304968</li><li>rs12451679</li><li>rs3744372</li>	2
Q6IEG0	154007		<li>P->L at 45: in dbSNP:rs2757594</li><li>R->Q at 281: in dbSNP:rs3823184</li>									<li>rs3823184</li><li>rs2757594</li>	2
Q6IEU7	390167		<li>V->L at 69: in dbSNP:rs10792043</li><li>I->T at 313: in dbSNP:rs10896488</li>									<li>rs10792043</li><li>rs10896488</li>	2
Q6IF42	442361		<li>L->P at 210: in dbSNP:rs10252253</li>									rs10252253	2
Q6IF63	120787		<li>H->R at 239: in dbSNP:rs10839531</li><li>L->Q at 254: in dbSNP:rs11040799</li><li>T->A at 266: in dbSNP:rs325609</li>									<li>rs11040799</li><li>rs10839531</li><li>rs325609</li>	2
Q6IF82	403253		<li>G->D at 82: in dbSNP:rs12805819</li><li>I->L at 104: in dbSNP:rs7103557</li><li>V->M at 145: in dbSNP:rs7103992</li><li>A->D at 192: in dbSNP:rs7103932</li>									<li>rs7103932</li><li>rs7103557</li><li>rs12805819</li><li>rs7103992</li>	2
Q6IF99	391107		<li>A->T at 208: in dbSNP:rs12240099</li>									rs12240099	2
Q6IFN5	26648		<li>S->F at 193: in dbSNP:rs12980833</li><li>P->S at 242: in dbSNP:rs2240928</li>									<li>rs2240928</li><li>rs12980833</li>	2
Q6IMI4	391365		<li>A->T at 23: in dbSNP:rs45552433</li><li>V->D at 37: in dbSNP:rs45626240</li><li>K->E at 50: in dbSNP:rs45493492</li><li>E->V at 129: in dbSNP:rs7425881</li><li>R->S at 143: in dbSNP:rs45439591</li><li>K->R at 258: in dbSNP:rs45495394</li>									<li>rs45552433</li><li>rs45493492</li><li>rs7425881</li><li>rs45626240</li><li>rs45495394</li><li>rs45439591</li>	2
Q6IMI6	442038		<li>A->T at 88: in dbSNP:rs11903659</li><li>Y->C at 148: in dbSNP:rs17035911</li><li>G->R at 179: in dbSNP:rs2219078</li><li>M->T at 194: in dbSNP:rs6722745</li>									<li>rs2219078</li><li>rs17035911</li><li>rs6722745</li><li>rs11903659</li>	2
Q6IMN6	65981		<li>P->S at 114: in dbSNP:rs17688567</li><li>K->R at 237: in dbSNP:rs12146709</li><li>M->V at 519: in dbSNP:rs2304630</li><li>S->L at 655: in dbSNP:rs2304628</li>									<li>rs2304630</li><li>rs17688567</li><li>rs2304628</li><li>rs12146709</li>	2
Q6IPM2	23288		<li>H->N at 101: in dbSNP:rs11976972</li><li>A->V at 546: in dbSNP:rs2293404</li><li>R->H at 587: in dbSNP:rs10950797</li><li>T->A at 596: in dbSNP:rs2293407</li><li>L->V at 666: in dbSNP:rs3735109</li><li>T->M at 690: in dbSNP:rs1061566</li>									<li>rs2293407</li><li>rs1061566</li><li>rs3735109</li><li>rs2293404</li><li>rs10950797</li><li>rs11976972</li>	2
Q6IPR3	127253		<li>R->Q at 110: in dbSNP:rs11538281</li><li>M->V at 121: in dbSNP:rs1133891</li>									<li>rs11538281</li><li>rs1133891</li>	2
Q6IPT2	112703		<li>S->I at 206: in dbSNP:rs736769</li>									rs736769	2
Q6IPT4	606495		<li>R->K at 46: in dbSNP:rs946448</li>									rs946448	2
Q6IQ16	339745		<li>R->Q at 45: in dbSNP:rs36099753</li>									rs36099753	2
Q6IQ23	144100		<li>L->I at 241: in dbSNP:rs35908144</li><li>A->V at 248: in dbSNP:rs16933529</li><li>Q->R at 279: in dbSNP:rs369819</li><li>V->I at 693: in dbSNP:rs34556458</li>									<li>rs369819</li><li>rs35908144</li><li>rs16933529</li><li>rs34556458</li>	2
Q6IQ26	23258		<li>Q->E at 224: in dbSNP:rs952374</li>									rs952374	2
Q6IQ49	163859		<li>M->I at 312: in dbSNP:rs34348128</li>									rs34348128	2
Q6IQ55	146057		<li>L->P at 8: in dbSNP:rs6493068</li><li>R->Q at 120: in dbSNP:rs35328266</li><li>T->A at 313: in dbSNP rsrs56017612</li><li>V->M at 440: in dbSNP rsrs56311523</li><li>R->P at 500: in dbSNP rsrs56039839</li><li>D->G at 635: in a lung small cell carcinoma sample; somatic mutation</li><li>T->I at 1062: in dbSNP rsrs55833708</li><li>T->M at 1084: in dbSNP:rs34348991</li><li>V->A at 1097: in dbSNP rsrs55796513</li><li>P->R at 1122: in dbSNP rsrs56142516</li><li>K->T at 1241: in dbSNP:rs36104367</li>									<li>rs55833708</li><li>rs56039839</li><li>rs36104367</li><li>rs34348991</li><li>rs56311523</li><li>rs55796513</li><li>rs35328266</li><li>rs56017612</li><li>rs6493068</li><li>rs56142516</li>	2
Q6ISB3	79977		<li>V->I at 415: in dbSNP:rs3779617</li>									rs3779617	2
Q6ISS4	3904		<li>G->S at 78: in dbSNP:rs36121405</li><li>H->R at 87: in dbSNP:rs34423078</li><li>F->Y at 115: in dbSNP:rs34429135</li>									<li>rs34423078</li><li>rs34429135</li><li>rs36121405</li>	2
Q6ISU1	171558		<li>V->I at 106: in dbSNP:rs9471966</li><li>A->T at 183: in dbSNP:rs36111725</li>									<li>rs36111725</li><li>rs9471966</li>	2
Q6IV72	155054		<li>D->V at 166: in dbSNP:rs6965052</li>									rs6965052	2
Q6IWH7	50636		<li>V->I at 67: in dbSNP:rs2302054</li>									rs2302054	2
Q6J4K2	80024		<li>R->C at 222: in dbSNP:rs16942745</li><li>L->F at 358: in dbSNP:rs3764034</li>									<li>rs3764034</li><li>rs16942745</li>	2
Q6J9G0	55359		<li>R->G at 71: in dbSNP:rs6650202</li><li>G->S at 204: in dbSNP:rs3759259</li><li>R->W at 210: in dbSNP rsrs34981955</li><li>L->S at 237: in dbSNP rsrs55877878</li><li>R->H at 379: in dbSNP rsrs34638573</li><li>V->I at 395: in a glioblastoma multiforme sample; somatic mutation</li><li>V->L at 400: in dbSNP rsrs55766125</li>									<li>rs34981955</li><li>rs6650202</li><li>rs3759259</li><li>rs55877878</li><li>rs55766125</li><li>rs34638573</li>	2
Q6JBY9	92241		<li>Q->R at 384: in dbSNP:rs34699420</li>									rs34699420	2
Q6JQN1	80724		<li>Q->R at 200: in dbSNP:rs35276160</li><li>T->P at 216: in dbSNP:rs35753710</li><li>D->N at 463: in dbSNP:rs36046440</li><li>A->V at 880: in dbSNP:rs34245489</li>									<li>rs34245489</li><li>rs36046440</li><li>rs35276160</li><li>rs35753710</li>	2
Q6KB66	144501		<li>V->I at 238: in dbSNP:rs35725856</li>									rs35725856	2
Q6KC79	25836		<li>S->N at 135: in dbSNP:rs3822471</li><li>S->A at 261: in dbSNP:rs16903425</li><li>N->S at 384: in dbSNP:rs2291703</li><li>N->S at 674: in dbSNP:rs3822471</li><li>I->V at 1206</li><li>Missing  at 1206: in CDLS1</li><li>A->G at 1246: in CDLS1, MIM: 122470</li><li>C->R at 1311: in CDLS1, MIM: 122470</li><li>L->P at 1312: in CDLS1, MIM: 122470</li><li>L->R at 1348: in CDLS1, MIM: 122470</li><li>E->K at 1647: in a breast cancer sample; somatic mutation, MIM: 122470</li><li>R->L at 1789: in CDLS1, MIM: 122470</li><li>D->V at 1803: in CDLS1, MIM: 122470</li><li>R->T at 1856: in CDLS1, MIM: 122470</li><li>R->C at 2298: in CDLS1, MIM: 122470</li><li>R->H at 2298: in CDLS1, MIM: 122470</li><li>G->R at 2312: in CDLS1, MIM: 122470</li><li>G->A at 2381: in CDLS1, MIM: 122470</li><li>A->T at 2390: in CDLS1, MIM: 122470</li><li>Y->C at 2430: in CDLS1, MIM: 122470</li><li>Y->H at 2440: in CDLS1, MIM: 122470</li>								Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]	<li>rs3822471</li><li>rs2291703</li><li>rs16903425</li>	2
Q6KF10	392255		<li>K->E at 110: in dbSNP:rs2245091</li><li>A->E at 249: associated with the KFS phenotype</li><li>L->P at 289: associated with the KFS phenotype</li>									rs2245091	2
Q6L8Q7	201626		<li>R->W at 23: in dbSNP:rs2241988</li>									rs2241988	2
Q6L9W6	283358		<li>G->S at 59: in dbSNP:rs2075033</li><li>R->Q at 265: in dbSNP:rs11063529</li><li>K->R at 411: in dbSNP:rs7298766</li><li>R->Q at 768: in dbSNP:rs11063570</li><li>R->H at 992: in dbSNP:rs36078145</li>									<li>rs36078145</li><li>rs7298766</li><li>rs11063529</li><li>rs2075033</li><li>rs11063570</li>	2
Q6MZM0	341208		<li>N->D at 251: in dbSNP:rs1945783</li><li>R->C at 381: in dbSNP:rs12291622</li>									<li>rs12291622</li><li>rs1945783</li>	2
Q6MZM9	401137		<li>I->L at 44: in dbSNP:rs1612460</li><li>R->C at 91: in dbSNP:rs1613461</li>									<li>rs1613461</li><li>rs1612460</li>	2
Q6MZN7	10866		<li>W->R at 32: in dbSNP:rs17206855</li><li>W->C at 82: in dbSNP:rs2255221</li><li>G->E at 93: in dbSNP:rs2255223</li><li>V->G at 112: associated with low viral load in HIV patients; dbSNP:rs2395029</li><li>H->R at 123: in dbSNP:rs3130907</li>									<li>rs3130907</li><li>rs2395029</li><li>rs2255221</li><li>rs17206855</li><li>rs2255223</li>	2
Q6MZQ0	79899		<li>T->A at 41: in dbSNP:rs330261</li><li>P->S at 330: in dbSNP:rs11033639</li>									<li>rs11033639</li><li>rs330261</li>	2
Q6MZT1			<li>V->I at 255: in dbSNP:rs889248</li>									rs889248	2
Q6MZW2	23105		<li>R->H at 158: in dbSNP:rs17683306</li><li>M->T at 757: in dbSNP:rs3749817</li>									<li>rs17683306</li><li>rs3749817</li>	2
Q6MZZ7	92291		<li>H->Y at 249: in dbSNP:rs17010210</li><li>A->T at 280: in dbSNP:rs508405</li><li>I->T at 596: in dbSNP:rs2276568</li>									<li>rs2276568</li><li>rs508405</li><li>rs17010210</li>	2
Q6N021			<li>P->R at 29: in dbSNP:rs12498609</li><li>M->V at 218: in dbSNP:rs6843141</li><li>P->L at 363: in dbSNP:rs17253672</li><li>A->G at 912: in dbSNP:rs4145756</li>									<li>rs17253672</li><li>rs6843141</li><li>rs12498609</li><li>rs4145756</li>	2
Q6N069	79612		<li>E->G at 344: in dbSNP:rs17062054</li>									rs17062054	2
Q6NSI1	100128802		<li>T->K at 265: in dbSNP:rs1436436</li>									rs1436436	2
Q6NSI4	55086		<li>I->M at 593: in dbSNP:rs5962707</li>									rs5962707	2
Q6NSJ0	57462		<li>N->I at 4: in dbSNP:rs2297776</li><li>D->E at 53: in dbSNP:rs4879781</li><li>R->S at 199: in dbSNP:rs12377</li><li>F->Y at 385: in dbSNP:rs7852399</li>									<li>rs2297776</li><li>rs7852399</li><li>rs12377</li><li>rs4879781</li>	2
Q6NSX1	83446		<li>R->C at 126: in dbSNP:rs17076052</li><li>I->V at 206: in dbSNP:rs1054515</li>									<li>rs17076052</li><li>rs1054515</li>	2
Q6NSZ9	221785		<li>P->A at 325: in dbSNP:rs10239632</li>									rs10239632	2
Q6NT16	116843		<li>V->I at 204: in dbSNP:rs6926101</li>									rs6926101	2
Q6NT32	221223		<li>R->Q at 71: in dbSNP:rs2397965</li><li>E->K at 261: in dbSNP:rs11076126</li><li>H->Q at 344: in dbSNP:rs11860946</li><li>G->R at 499: in dbSNP:rs16955812</li><li>D->E at 537: in dbSNP:rs11860456</li>									<li>rs16955812</li><li>rs11860456</li><li>rs11076126</li><li>rs11860946</li><li>rs2397965</li>	2
Q6NT55	126410		<li>F->L at 59: in LI3, MIM: 604777</li><li>S->C at 178: in dbSNP:rs16980531, MIM: 604777</li><li>R->H at 243: in LI3, MIM: 604777</li><li>R->W at 372: in LI3, MIM: 604777</li><li>H->Y at 435: in LI3, MIM: 604777</li><li>H->D at 436: in LI3, MIM: 604777</li><li>K->Q at 505: in dbSNP:rs7256787, MIM: 604777</li>								Ichthyosis lamellar type 3 (LI3) [MIM:604777]	<li>rs16980531</li><li>rs7256787</li>	2
Q6NT89	388610		<li>W->R at 27: in dbSNP:rs6689941</li>									rs6689941	2
Q6NTE8	51149		<li>Q->R at 42: in dbSNP:rs1650893</li><li>Q->R at 97: in dbSNP:rs1650893</li><li>R->G at 154: in dbSNP:rs248248</li><li>Q->R at 231: in dbSNP:rs10277</li>									<li>rs1650893</li><li>rs248248</li><li>rs10277</li>	2
Q6NTF7			<li>R->L at 18: in dbSNP:rs139293</li><li>G->R at 105: in dbSNP:rs139297</li><li>K->E at 121: in dbSNP:rs139298</li><li>K->N at 121: in dbSNP:rs139299</li><li>E->D at 178: in dbSNP:rs139302</li>									<li>rs139293</li><li>rs139302</li><li>rs139297</li><li>rs139298</li><li>rs139299</li>	2
Q6NTF9	57414		<li>R->H at 85: in dbSNP:rs11547498</li>									rs11547498	2
Q6NUI1	339184		<li>G->D at 82: in dbSNP:rs7216787</li>									rs7216787	2
Q6NUJ1	768239		<li>A->S at 268: in dbSNP:rs3796905</li><li>V->M at 296: in dbSNP:rs6850206</li>									<li>rs3796905</li><li>rs6850206</li>	2
Q6NUJ5	170394		<li>R->C at 89: in dbSNP:rs11146363</li><li>R->G at 98: in dbSNP:rs10747057</li>									<li>rs10747057</li><li>rs11146363</li>	2
Q6NUK4	221035		<li>Q->R at 171: in dbSNP:rs10995569</li>									rs10995569	2
Q6NUM9	54884		<li>A->V at 533: in dbSNP:rs4832169</li>									rs4832169	2
Q6NUN0	54988		<li>Q->H at 159</li><li>P->R at 352: in dbSNP rsrs8062344</li><li>H->R at 360: in dbSNP rsrs12931877</li><li>T->M at 533: in dbSNP rsrs56308819</li>									<li>rs8062344</li><li>rs56308819</li><li>rs12931877</li>	2
Q6NUN7	79864		<li>H->R at 486: in dbSNP:rs33999612</li>									rs33999612	2
Q6NUQ1	60561		<li>S->C at 40: in dbSNP:rs11556986</li><li>F->S at 668: in dbSNP:rs35971380</li><li>P->L at 759: in dbSNP:rs34310648</li>									<li>rs35971380</li><li>rs11556986</li><li>rs34310648</li>	2
Q6NUQ4	54867		<li>V->M at 351: in dbSNP:rs1124649</li>									rs1124649	2
Q6NUS8	133688		<li>C->G at 121: in dbSNP:rs3756669</li>									rs3756669	2
Q6NUT2	283417		<li>M->V at 37: in dbSNP:rs10878075</li><li>A->V at 41: in dbSNP:rs10878074</li><li>S->A at 51: in dbSNP:rs10878073</li>									<li>rs10878075</li><li>rs10878074</li><li>rs10878073</li>	2
Q6NUT3	126321		<li>Y->H at 182: in dbSNP:rs2240751</li><li>I->V at 203: in dbSNP:rs34562175</li><li>R->H at 243: in dbSNP:rs10414812</li><li>G->S at 395: in dbSNP:rs34878396</li><li>R->C at 476: in dbSNP:rs7252640</li>									<li>rs7252640</li><li>rs34562175</li><li>rs10414812</li><li>rs2240751</li><li>rs34878396</li>	2
Q6NV74	343990		<li>S->C at 315: in dbSNP:rs3731660</li>									rs3731660	2
Q6NV75	387509		<li>R->H at 209: in dbSNP:rs12735670</li>									rs12735670	2
Q6NVH7	126074		<li>D->G at 171: in dbSNP:rs317926</li>									rs317926	2
Q6NVU6	402682		<li>V->L at 47: in dbSNP:rs12666989</li>									rs12666989	2
Q6NVV3	152519		<li>I->V at 324: in dbSNP:rs13116684</li>									rs13116684	2
Q6NVV7	150383		<li>V->A at 5: in dbSNP:rs9627281</li>									rs9627281	2
Q6NVY1	26275		<li>T->A at 46: in dbSNP:rs1058180</li><li>Y->C at 122: in HIBCH deficiency, MIM: 250620</li>								HIBCH deficiency [MIM:250620]	rs1058180	2
Q6NW29	201965		<li>I->L at 124: in dbSNP:rs10015804</li>									rs10015804	2
Q6NW34	25871		<li>E->K at 101: in dbSNP:rs2291465</li><li>P->S at 352: in dbSNP:rs2306858</li><li>F->I at 357: in dbSNP:rs2306857</li><li>T->A at 476: in dbSNP:rs3732813</li><li>S->P at 490: in dbSNP:rs7628368</li>									<li>rs3732813</li><li>rs7628368</li><li>rs2306858</li><li>rs2306857</li><li>rs2291465</li>	2
Q6NX45	342132		<li>P->L at 65: in dbSNP:rs16944267</li><li>S->N at 83: in dbSNP:rs2589957</li><li>V->I at 147: in dbSNP:rs11854320</li>									<li>rs2589957</li><li>rs11854320</li><li>rs16944267</li>	2
Q6NX49	27300		<li>H->D at 203: in dbSNP:rs6510130</li><li>Q->R at 700: in dbSNP:rs260462</li>									<li>rs260462</li><li>rs6510130</li>	2
Q6NXG1	54845		<li>Y->C at 196: in dbSNP:rs2303454</li>									rs2303454	2
Q6NXP0	90288		<li>E->G at 66: in dbSNP:rs3774787</li><li>R->G at 215: in dbSNP:rs6790768</li><li>P->S at 541: in dbSNP:rs12637267</li>									<li>rs3774787</li><li>rs12637267</li><li>rs6790768</li>	2
Q6NXP2	346653		<li>P->T at 112: in dbSNP:rs17169357</li><li>V->D at 114: in dbSNP:rs6971819</li><li>R->W at 136: in dbSNP:rs6467210</li><li>I->V at 251: in dbSNP:rs1109552</li>									<li>rs17169357</li><li>rs1109552</li><li>rs6467210</li><li>rs6971819</li>	2
Q6NXR0	56269		<li>D->N at 135: in dbSNP:rs11555891</li>									rs11555891	2
Q6NXR4	80185		<li>E->G at 63: in dbSNP:rs2304748</li><li>L->R at 425: in dbSNP:rs3736497</li>									<li>rs2304748</li><li>rs3736497</li>	2
Q6NXT6	202018		<li>E->K at 465: in dbSNP:rs35606284</li><li>N->S at 522: in dbSNP:rs16893137</li>									<li>rs16893137</li><li>rs35606284</li>	2
Q6NY19	256949		<li>D->Y at 288: in dbSNP:rs890850</li><li>R->H at 359: in dbSNP:rs890853</li><li>A->T at 485: in dbSNP:rs2913955</li>									<li>rs890850</li><li>rs2913955</li><li>rs890853</li>	2
Q6NZ36	199990		<li>P->S at 126: in dbSNP:rs1058411</li>									rs1058411	2
Q6NZ63			<li>I->V at 7: in dbSNP:rs7787814</li><li>Q->R at 29: in dbSNP:rs16881810</li><li>R->M at 166: in dbSNP:rs16881812</li><li>I->T at 210: in dbSNP:rs16881817</li>									<li>rs16881817</li><li>rs7787814</li><li>rs16881810</li><li>rs16881812</li>	2
Q6NZ67	80097		<li>A->V at 118: in dbSNP:rs1043059</li><li>R->Q at 155: in dbSNP:rs1043152</li>									<li>rs1043059</li><li>rs1043152</li>	2
Q6NZI2	284119		<li>P->T at 14: in a breast cancer sample; somatic mutation</li><li>E->Q at 193: in dbSNP:rs35308568</li>									rs35308568	2
Q6NZY4	55596		<li>P->A at 672: in dbSNP:rs1063155</li>									rs1063155	2
Q6P047	203076		<li>F->L at 15: in dbSNP:rs11250058</li>									rs11250058	2
Q6P050	283807		<li>V->L at 109: in dbSNP:rs8035931</li>									rs8035931	2
Q6P087	285367		<li>D->H at 26: in dbSNP:rs17855991</li><li>A->P at 173: in dbSNP:rs34244989</li>									<li>rs34244989</li><li>rs17855991</li>	2
Q6P093	344752		<li>A->S at 186: in dbSNP:rs1972977</li><li>L->I at 343: in dbSNP:rs1052562</li>									<li>rs1052562</li><li>rs1972977</li>	2
Q6P0A1	399888		<li>A->T at 186: in dbSNP:rs4486587</li>									rs4486587	2
Q6P0N0	55320		<li>C->R at 164: in dbSNP:rs1269008</li><li>P->R at 347: in dbSNP:rs34168608</li><li>E->D at 583: in dbSNP:rs34101857</li><li>E->Q at 851: in dbSNP:rs34402741</li>									<li>rs1269008</li><li>rs34101857</li><li>rs34402741</li><li>rs34168608</li>	2
Q6P0Q8	23139		<li>L->F at 69: in dbSNP rsrs55914403</li><li>K->E at 275: in an ovarian mucinous carcinoma sample; somatic mutation</li><li>D->E at 388: in dbSNP:rs11211247</li><li>G->A at 655: in a breast mucinous carcinoma sample; somatic mutation</li><li>I->M at 659: in dbSNP:rs1707336</li><li>R->L at 991: in dbSNP rsrs56114653</li><li>K->R at 1197: in dbSNP:rs1052607</li><li>D->E at 1221: in dbSNP rsrs56060730</li><li>R->L at 1246: in dbSNP rsrs56309943</li><li>V->M at 1304: in dbSNP:rs33931638</li><li>A->T at 1463: in dbSNP:rs3737738</li><li>G->A at 1468: in dbSNP rsrs3737737</li><li>D->G at 1551: in dbSNP:rs1052610</li><li>T->I at 1608: in dbSNP:rs35474583</li><li>K->R at 1673: in dbSNP rsrs34070850</li><li>G->E at 1703</li>									<li>rs1707336</li><li>rs11211247</li><li>rs1052610</li><li>rs56114653</li><li>rs56309943</li><li>rs55914403</li><li>rs35474583</li><li>rs56060730</li><li>rs33931638</li><li>rs34070850</li><li>rs3737737</li><li>rs1052607</li><li>rs3737738</li>	2
Q6P158	90957		<li>S->F at 410: in dbSNP:rs11893062</li><li>S->G at 433: in dbSNP:rs35371077</li><li>N->S at 587: in dbSNP:rs7598922</li>									<li>rs11893062</li><li>rs7598922</li><li>rs35371077</li>	2
Q6P179	64167		<li>P->L at 214: in dbSNP:rs3733905</li><li>K->N at 392: in dbSNP:rs2549782</li><li>L->R at 411: in dbSNP:rs34261036</li><li>L->Q at 669: in dbSNP:rs17408150</li>									<li>rs2549782</li><li>rs34261036</li><li>rs3733905</li><li>rs17408150</li>	2
Q6P1A2	10162		<li>F->L at 63: in dbSNP:rs34196984</li><li>I->T at 217: in dbSNP:rs1984564</li>									<li>rs1984564</li><li>rs34196984</li>	2
Q6P1J6	151056		<li>V->L at 212: in dbSNP:rs6753929</li><li>M->V at 708: in dbSNP:rs11681826</li><li>G->R at 821: in dbSNP:rs10201128</li><li>D->H at 879: in dbSNP:rs7601771</li><li>A->V at 1318: in dbSNP:rs2199619</li>									<li>rs7601771</li><li>rs2199619</li><li>rs10201128</li><li>rs11681826</li><li>rs6753929</li>	2
Q6P1J9	79577		<li>L->P at 64: in FIHP; does not affect interaction with the Pfa1 complex, MIM: 145000</li><li>L->P at 384: in dbSNP:rs35590728, MIM: 145000</li>								Familial isolated hyperparathyroidism (FIHP) [MIM:145000]	rs35590728	2
Q6P1K2	11243		<li>Q->R at 75: in dbSNP:rs1052053</li><li>M->I at 137: in dbSNP:rs1052067</li>									<li>rs1052067</li><li>rs1052053</li>	2
Q6P1M0	10999		<li>G->S at 209: correlates with lower body mass index, triglyceride concentrations, systolic blood pressure, insulin concentrations and homeostasis model assessment index; dbSNP:rs2240953</li>	homeostasis	GO:0042592					<li>P67974</li><li>P67973</li><li>P67971</li><li>P69048</li><li>P01330</li><li>P0C236</li><li>P69047</li><li>P07453</li><li>P42633</li><li>P01324</li><li>P68243</li><li>P01320</li><li>P68992</li><li>P81423</li><li>P01328</li><li>Q9TQY7</li><li>P01340</li><li>P68990</li><li>P67969</li><li>P68991</li><li>P67968</li><li>P68245</li><li>P81881</li><li>P69046</li><li>P01336</li><li>P68988</li><li>P68987</li><li>P01334</li><li>P01316</li><li>P13190</li><li>P01331</li><li>P01314</li><li>P01319</li><li>P09477</li><li>P09476</li><li>P12703</li><li>P29335</li><li>P12704</li><li>P18109</li><li>P68989</li><li>P12708</li>		rs2240953	2
Q6P1M3	3993		<li>R->H at 45: in dbSNP:rs1671036</li><li>F->L at 479: in dbSNP:rs1671021</li><li>P->L at 488: in dbSNP:rs35991442</li><li>L->P at 490: in dbSNP:rs1671021</li><li>R->H at 748: in dbSNP:rs35474687</li><li>P->S at 759: in dbSNP:rs1661715</li><li>A->V at 774: in dbSNP:rs1661715</li><li>P->L at 790: in dbSNP:rs1661714</li><li>G->S at 1001: in dbSNP:rs35886912</li>									<li>rs35991442</li><li>rs1661715</li><li>rs35886912</li><li>rs1661714</li><li>rs1671021</li><li>rs1671036</li><li>rs35474687</li>	2
Q6P1N0	54862		<li>T->P at 339: in dbSNP:rs11883041</li><li>T->S at 635: in dbSNP:rs2290663</li><li>T->M at 801: in dbSNP:rs2305777</li>									<li>rs2290663</li><li>rs2305777</li><li>rs11883041</li>	2
Q6P1Q0	25875		<li>V->I at 84: in dbSNP:rs12379</li>									rs12379	2
Q6P1Q9	55798		<li>C->R at 124: in dbSNP:rs2896399</li><li>N->H at 129: in dbSNP:rs2023329</li><li>E->K at 169: in dbSNP:rs1065267</li><li>I->V at 266: in dbSNP:rs2562741</li>									<li>rs2023329</li><li>rs1065267</li><li>rs2896399</li><li>rs2562741</li>	2
Q6P1S2			<li>A->T at 47: in dbSNP:rs9853408</li><li>N->S at 160: in dbSNP:rs358733</li>									<li>rs358733</li><li>rs9853408</li>	2
Q6P1W5	84970		<li>Q->E at 45: in dbSNP:rs1382602</li><li>D->E at 112: in dbSNP:rs1414474</li><li>Y->H at 248: in dbSNP:rs17556981</li>									<li>rs17556981</li><li>rs1414474</li><li>rs1382602</li>	2
Q6P1X5	6873		<li>P->L at 8: in dbSNP:rs17818842</li><li>S->T at 447: in dbSNP:rs9297605</li><li>S->N at 1122: in dbSNP:rs956749</li><li>T->A at 1139: in dbSNP:rs956748</li>									<li>rs956749</li><li>rs17818842</li><li>rs956748</li><li>rs9297605</li>	2
Q6P280	57711		<li>V->L at 98: in dbSNP:rs2912444</li>									rs2912444	2
Q6P2C0	56964		<li>L->H at 66: in dbSNP:rs4287542</li><li>S->T at 254: in dbSNP:rs7163367</li><li>T->M at 352: in dbSNP:rs7178234</li>									<li>rs7178234</li><li>rs4287542</li><li>rs7163367</li>	2
Q6P2D8	143570		<li>T->R at 473: in dbSNP:rs4944960</li><li>K->E at 480: in dbSNP:rs12291445</li>									<li>rs12291445</li><li>rs4944960</li>	2
Q6P2H3	64793		<li>R->H at 48: in dbSNP:rs35831900</li><li>S->N at 213: in dbSNP:rs3795686</li><li>A->T at 542: in dbSNP:rs7550997</li><li>Q->H at 668: in dbSNP:rs36013141</li>									<li>rs36013141</li><li>rs35831900</li><li>rs3795686</li><li>rs7550997</li>	2
Q6P2M8			<li>Q->H at 262</li>										2
Q6P2P2	90826		<li>S->G at 483: in dbSNP:rs17023638</li><li>C->Y at 747: in dbSNP:rs11557361</li>									<li>rs11557361</li><li>rs17023638</li>	2
Q6P2Q9	10594		<li>K->E at 68: in dbSNP:rs1043391</li><li>R->H at 227: in dbSNP:rs11559304</li><li>P->L at 874: in dbSNP:rs1043396</li><li>N->H at 1293: in dbSNP:rs1043399</li><li>P->T at 2301: in RP13, MIM: 600059</li><li>F->L at 2304: in RP13, MIM: 600059</li><li>H->P at 2309: in RP13, MIM: 600059</li><li>H->R at 2309: in RP13, MIM: 600059</li><li>R->G at 2310: in RP13, MIM: 600059</li><li>R->K at 2310: in RP13, MIM: 600059</li><li>F->L at 2314: in RP13, MIM: 600059</li><li>Y->N at 2334: in RP13, MIM: 600059</li>							P05750	Retinitis pigmentosa type 13 (RP13) [MIM:600059]	<li>rs1043399</li><li>rs1043396</li><li>rs11559304</li><li>rs1043391</li>	2
Q6P387	123775		<li>T->S at 77: in dbSNP:rs17855893</li><li>I->T at 288: in dbSNP:rs7198494</li><li>Y->H at 335: in dbSNP:rs10459872</li><li>K->E at 357: in dbSNP:rs9930623</li><li>P->S at 388: in dbSNP:rs12929250</li>									<li>rs17855893</li><li>rs9930623</li><li>rs7198494</li><li>rs10459872</li><li>rs12929250</li>	2
Q6P3R8	341676		<li>K->Q at 255: in dbSNP:rs34756139</li><li>R->H at 290</li><li>C->R at 531</li>									rs34756139	2
Q6P3S1	163486		<li>V->M at 216: in dbSNP:rs7546381</li>									rs7546381	2
Q6P3S6	54455		<li>P->A at 471: in dbSNP:rs12069239</li>									rs12069239	2
Q6P3W2	120526		<li>N->D at 22: in a breast cancer sample; somatic mutation</li>										2
Q6P3W7	55681		<li>P->L at 357: in dbSNP:rs33968174</li><li>T->S at 720</li><li>Q->H at 863: in a lung adenocarcinoma sample; somatic mutation</li>									rs33968174	2
Q6P3X3	55622		<li>Y->C at 476: in dbSNP:rs2273660</li><li>R->H at 525: in dbSNP:rs2273664</li><li>R->H at 586: in dbSNP:rs17012268</li>									<li>rs2273660</li><li>rs17012268</li><li>rs2273664</li>	2
Q6P461	142827		<li>K->R at 227: in dbSNP:rs7090248</li>									rs7090248	2
Q6P474			<li>M->V at 209: in dbSNP:rs3169319</li><li>L->F at 429: in dbSNP:rs11648231</li><li>L->R at 429: in dbSNP:rs929843</li>									<li>rs3169319</li><li>rs929843</li><li>rs11648231</li>	2
Q6P4A8	79887		<li>I->V at 264: in dbSNP:rs7957558</li><li>V->A at 376: in dbSNP:rs2287541</li><li>A->P at 533: in dbSNP:rs1600</li>									<li>rs1600</li><li>rs2287541</li><li>rs7957558</li>	2
Q6P4F1	84750		<li>L->F at 59: in dbSNP:rs16880994</li><li>Y->H at 268: in dbSNP:rs16880853</li><li>L->V at 368: in dbSNP:rs17855838</li><li>R->P at 371: in dbSNP:rs17855839</li>									<li>rs16880853</li><li>rs16880994</li><li>rs17855839</li><li>rs17855838</li>	2
Q6P4F7	9824		<li>E->K at 605: in a breast cancer sample; somatic mutation</li>										2
Q6P4H8	134145		<li>T->M at 75: in dbSNP:rs2438652</li><li>A->V at 105: in dbSNP:rs16884350</li><li>V->A at 114: in dbSNP:rs17360625</li><li>L->M at 229: in dbSNP:rs15757</li>									<li>rs2438652</li><li>rs16884350</li><li>rs17360625</li><li>rs15757</li>	2
Q6P4I2	84942		<li>R->H at 249: in dbSNP:rs11073619</li>									rs11073619	2
Q6P4Q7	26504		<li>G->R at 126: in dbSNP:rs17855817</li><li>V->L at 134: in a breast cancer sample; somatic mutation</li>									rs17855817	2
Q6P531	124975		<li>R->W at 40: in dbSNP:rs7216284</li><li>A->V at 58: in dbSNP:rs11657054</li>									<li>rs11657054</li><li>rs7216284</li>	2
Q6P587	81889		<li>D->N at 110: in dbSNP:rs3743853</li>									rs3743853	2
Q6P5S2	352999		<li>C->G at 308: in dbSNP:rs9491833</li>									rs9491833	2
Q6P5W5	55630		<li>T->A at 58: in dbSNP rsrs2280838</li><li>P->L at 84: in AEZ; could be a polymorphism, MIM: 201100</li><li>R->C at 95: in AEZ, MIM: 201100</li><li>N->K at 106: in AEZ, MIM: 201100</li><li>T->A at 114: in dbSNP rsrs17855765, MIM: 201100</li><li>P->L at 200: in AEZ, MIM: 201100</li><li>R->W at 251: in AEZ; could be a polymorphism: in dbSNP rsrs2977838, MIM: 201100</li><li>Q->H at 303: in AEZ, MIM: 201100</li><li>C->Y at 309: in AEZ; could be a polymorphism, MIM: 201100</li><li>G->D at 330: in AEZ, MIM: 201100</li><li>A->T at 357: in dbSNP rsrs2272662, MIM: 201100</li><li>L->P at 372: in AEZ, MIM: 201100</li><li>G->R at 374: in AEZ, MIM: 201100</li><li>L->P at 410: in AEZ; could be a polymorphism, MIM: 201100</li><li>G->R at 526: in AEZ, MIM: 201100</li><li>G->R at 630: in AEZ, MIM: 201100</li>								Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]	<li>rs2272662</li><li>rs17855765</li><li>rs2977838</li><li>rs2280838</li>	2
Q6P656	161502		<li>P->S at 284: in dbSNP:rs2279997</li>									rs2279997	2
Q6P6B1	203111		<li>R->H at 59: in dbSNP:rs7833473</li><li>Q->P at 244: in dbSNP:rs35368005</li><li>H->R at 287: in dbSNP:rs11994440</li>									<li>rs11994440</li><li>rs7833473</li><li>rs35368005</li>	2
Q6P6B7	54522		<li>A->G at 128: in dbSNP:rs2296136</li><li>Q->R at 353: in dbSNP:rs1052420</li>									<li>rs2296136</li><li>rs1052420</li>	2
Q6P7N7	388730		<li>R->Q at 77: in dbSNP:rs4951168</li><li>F->S at 100: in dbSNP:rs16855059</li>									<li>rs4951168</li><li>rs16855059</li>	2
Q6P995	165215		<li>V->I at 304: in dbSNP:rs17855085</li>									rs17855085	2
Q6P9A1	348327		<li>T->A at 64: in dbSNP:rs9677004</li><li>H->Q at 110: in dbSNP:rs2360543</li><li>S->P at 124: in dbSNP:rs17855076</li><li>T->M at 169: in dbSNP:rs11883343</li><li>G->S at 262: in dbSNP:rs9676259</li>									<li>rs9676259</li><li>rs11883343</li><li>rs17855076</li><li>rs9677004</li><li>rs2360543</li>	2
Q6P9B6			<li>R->L at 10: in dbSNP:rs8046813</li><li>H->Q at 97: in dbSNP:rs8055536</li><li>D->E at 172: in dbSNP:rs436278</li><li>V->I at 220: in dbSNP:rs431818</li><li>E->D at 233: in dbSNP:rs34244563</li><li>R->C at 267: in dbSNP:rs422145</li><li>S->L at 443: in dbSNP:rs34628943</li>									<li>rs431818</li><li>rs8055536</li><li>rs34628943</li><li>rs8046813</li><li>rs422145</li><li>rs34244563</li><li>rs436278</li>	2
Q6P9F0	84660		<li>Q->E at 31: in a colorectal cancer sample; somatic mutation</li><li>T->K at 394: in dbSNP:rs17855031</li>									rs17855031	2
Q6P9F7	23507		<li>D->N at 288: in dbSNP:rs17131746</li><li>Q->K at 419: in dbSNP:rs17855025</li><li>R->H at 469: in dbSNP:rs3795832</li><li>N->S at 689: in dbSNP:rs12747447</li>									<li>rs17855025</li><li>rs12747447</li><li>rs17131746</li><li>rs3795832</li>	2
Q6P9G0	124637		<li>F->L at 20: in dbSNP:rs12453250</li>									rs12453250	2
Q6P9G4	201799		<li>S->F at 93: in dbSNP:rs17855714</li>									rs17855714	2
Q6P9H5	474344		<li>V->I at 65: in dbSNP:rs17173519</li><li>G->D at 170: in dbSNP:rs11974345</li><li>G->S at 171: in dbSNP:rs13234724</li><li>Q->R at 237: in dbSNP:rs11977216</li>									<li>rs13234724</li><li>rs11974345</li><li>rs11977216</li><li>rs17173519</li>	2
Q6PB30	158511		<li>Y->F at 28: in dbSNP:rs1894359</li><li>K->R at 62: in dbSNP:rs2515848</li>									<li>rs1894359</li><li>rs2515848</li>	2
Q6PCD5	55159		<li>T->N at 90: in dbSNP:rs8058922</li><li>R->K at 392: in dbSNP:rs17854997</li><li>I->V at 564: in dbSNP:rs7193541</li><li>I->T at 770: in dbSNP:rs17854996</li>									<li>rs8058922</li><li>rs7193541</li><li>rs17854996</li><li>rs17854997</li>	2
Q6PCE3	283209		<li>L->P at 14: in dbSNP:rs12049823</li><li>I->V at 531: in dbSNP:rs592644</li>									<li>rs592644</li><li>rs12049823</li>	2
Q6PD74	79719		<li>I->L at 132: in dbSNP:rs7173826</li>									rs7173826	2
Q6PEW0	221191		<li>S->G at 182: in dbSNP:rs3815803</li><li>V->I at 240: in dbSNP:rs1052276</li><li>T->A at 295: in dbSNP:rs2241414</li>									<li>rs3815803</li><li>rs1052276</li><li>rs2241414</li>	2
Q6PEW1	170261		<li>R->C at 7: in dbSNP:rs35356061</li><li>L->I at 179: in dbSNP:rs17854957</li><li>R->G at 214: in dbSNP:rs17853670</li>									<li>rs35356061</li><li>rs17853670</li><li>rs17854957</li>	2
Q6PEX3	388818		<li>S->Y at 26: in dbSNP:rs3804007</li><li>P->T at 188: in dbSNP:rs12483584</li>									<li>rs12483584</li><li>rs3804007</li>	2
Q6PEX7	374973		<li>E->D at 158: in dbSNP:rs614486</li><li>A->V at 253: in dbSNP:rs1025806</li>									<li>rs1025806</li><li>rs614486</li>	2
Q6PEY0	375519		<li>T->I at 20: in dbSNP:rs4707358</li><li>F->L at 206: in dbSNP:rs6934603</li>									<li>rs6934603</li><li>rs4707358</li>	2
Q6PEY1	92162		<li>L->F at 44: in dbSNP:rs2270518</li>									rs2270518	2
Q6PEY2	112714		<li>S->N at 101: in dbSNP:rs3863907</li><li>A->V at 126: in dbSNP:rs13000721</li><li>S->G at 162: in dbSNP:rs2261398</li><li>W->R at 402: in dbSNP:rs1052422</li><li>A->E at 449: in dbSNP:rs10208844</li>									<li>rs3863907</li><li>rs13000721</li><li>rs1052422</li><li>rs2261398</li><li>rs10208844</li>	2
Q6PEZ8	79883		<li>R->W at 44: in dbSNP:rs3745467</li>									rs3745467	2
Q6PF04	79898		<li>D->N at 84: in dbSNP:rs17854933</li><li>K->E at 93: in dbSNP:rs8106409</li><li>I->R at 135: in dbSNP:rs16983243</li>									<li>rs8106409</li><li>rs17854933</li><li>rs16983243</li>	2
Q6PF05	153657		<li>H->R at 22: in dbSNP:rs6451173</li><li>K->E at 67: in dbSNP:rs6866035</li><li>T->M at 150: in dbSNP:rs34566695</li><li>N->D at 153: in dbSNP:rs35769440</li><li>K->N at 247: in dbSNP:rs34702907</li><li>R->K at 325: in dbSNP:rs35665026</li>									<li>rs34702907</li><li>rs6451173</li><li>rs35665026</li><li>rs34566695</li><li>rs6866035</li><li>rs35769440</li>	2
Q6PF06	158234		<li>V->G at 234: in dbSNP:rs36023446</li><li>V->A at 242: in dbSNP:rs12337034</li>									<li>rs12337034</li><li>rs36023446</li>	2
Q6PGN9	84722		<li>R->Q at 312: in dbSNP:rs34863121</li>									rs34863121	2
Q6PGP7	9652		<li>L->V at 437: in dbSNP:rs17084873</li><li>R->S at 1296: in dbSNP:rs2303650</li>									<li>rs17084873</li><li>rs2303650</li>	2
Q6PGQ1	51233		<li>I->T at 4: in dbSNP:rs3827318</li>									rs3827318	2
Q6PGQ7	79866		<li>S->L at 210: in dbSNP:rs9543107</li><li>S->F at 308: in dbSNP:rs1146858</li>									<li>rs9543107</li><li>rs1146858</li>	2
Q6PI26	55164		<li>S->I at 140: in dbSNP:rs17855677</li><li>S->N at 489: in dbSNP:rs35178407</li>									<li>rs35178407</li><li>rs17855677</li>	2
Q6PI47	130535		<li>A->V at 333: in dbSNP:rs13018579</li><li>G->C at 336: in dbSNP:rs10203154</li><li>C->S at 390: in dbSNP:rs3795969</li><li>A->V at 413: in dbSNP:rs10203042</li>									<li>rs10203042</li><li>rs13018579</li><li>rs3795969</li><li>rs10203154</li>	2
Q6PI48	55157		<li>L->V at 10: in dbSNP:rs4427454</li><li>S->G at 45: in LBSL, MIM: 611105</li><li>C->F at 152: in LBSL, MIM: 611105</li><li>R->H at 179: in LBSL, MIM: 611105</li><li>Q->K at 184: in LBSL, MIM: 611105</li><li>K->R at 196: in dbSNP:rs35515638, MIM: 611105</li><li>Q->K at 248: in LBSL, MIM: 611105</li><li>R->Q at 263: in LBSL, MIM: 611105</li><li>D->V at 560: in LBSL, MIM: 611105</li><li>L->F at 613: in LBSL, MIM: 611105</li><li>L->Q at 626: in LBSL, MIM: 611105</li><li>L->V at 626: in LBSL, MIM: 611105</li><li>Y->C at 629: in LBSL, MIM: 611105</li>								Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	<li>rs35515638</li><li>rs4427454</li>	2
Q6PI73	79168		<li>L->W at 69: in dbSNP:rs620207</li><li>G->R at 149: in dbSNP:rs1052966</li><li>P->R at 288: in dbSNP:rs1052975</li><li>Y->H at 400: in dbSNP:rs8104206</li>									<li>rs8104206</li><li>rs1052975</li><li>rs1052966</li><li>rs620207</li>	2
Q6PI77	80823		<li>S->G at 132: in dbSNP:rs2179675</li><li>C->R at 318: in dbSNP:rs4514179</li>									<li>rs2179675</li><li>rs4514179</li>	2
Q6PID6	23548		<li>L->M at 69: in dbSNP:rs837105</li>									rs837105	2
Q6PID8	23008		<li>S->L at 2: in dbSNP:rs3734928</li><li>D->G at 183: in dbSNP:rs17854337</li><li>I->V at 274: in dbSNP:rs17854336</li><li>E->G at 295: in dbSNP:rs17857292</li><li>L->I at 437: in dbSNP:rs10241894</li>									<li>rs10241894</li><li>rs17857292</li><li>rs17854337</li><li>rs17854336</li><li>rs3734928</li>	2
Q6PIF6	4648		<li>G->S at 21: in dbSNP:rs2404991</li><li>R->Q at 1264: in dbSNP:rs2245408</li><li>E->D at 1647: in dbSNP:rs13025959</li><li>Q->R at 2105: in dbSNP:rs11686946</li>									<li>rs2404991</li><li>rs2245408</li><li>rs13025959</li><li>rs11686946</li>	2
Q6PIJ6	81545		<li>S->P at 592: in dbSNP:rs10043775</li><li>A->T at 894: in dbSNP:rs11949133</li>									<li>rs11949133</li><li>rs10043775</li>	2
Q6PIU1	27012		<li>D->G at 22: in dbSNP:rs17852611</li>									rs17852611	2
Q6PIU2	57552		<li>V->F at 19: in dbSNP:rs35316420</li><li>K->Q at 71: in dbSNP:rs2302815</li><li>L->M at 343: in dbSNP:rs17857335</li>									<li>rs17857335</li><li>rs2302815</li><li>rs35316420</li>	2
Q6PIW4	63979		<li>V->M at 137: in dbSNP:rs10235371</li><li>H->Y at 216: in dbSNP:rs35929700</li>									<li>rs35929700</li><li>rs10235371</li>	2
Q6PJ21	90864		<li>S->L at 171: in dbSNP:rs35816944</li>									rs35816944	2
Q6PJF5	79651		<li>P->L at 208: in dbSNP:rs3744045</li><li>A->T at 249: in dbSNP:rs34814954</li><li>D->Y at 528: in dbSNP:rs11553545</li>									<li>rs34814954</li><li>rs11553545</li><li>rs3744045</li>	2
Q6PJG2	91748		<li>A->V at 86: in dbSNP:rs35302179</li><li>P->L at 554: in dbSNP:rs17782124</li>									<li>rs17782124</li><li>rs35302179</li>	2
Q6PJG6	221927		<li>R->G at 20: in dbSNP:rs17856488</li>									rs17856488	2
Q6PJG9	78999		<li>V->A at 340: in dbSNP:rs3741194</li>									rs3741194	2
Q6PJI9	79726		<li>P->T at 201: in dbSNP:rs11557260</li>									rs11557260	2
Q6PJQ5	139628		<li>V->A at 286: in dbSNP:rs2375465</li>									rs2375465	2
Q6PJW8	163882		<li>S->N at 28: in dbSNP:rs35286882</li><li>S->L at 87: in dbSNP:rs6702823</li><li>R->C at 399: in dbSNP:rs12075111</li>									<li>rs35286882</li><li>rs12075111</li><li>rs6702823</li>	2
Q6PK04	339230		<li>H->Q at 127: in dbSNP:rs7226091</li><li>R->W at 177: in dbSNP:rs11150805</li><li>R->Q at 229: in dbSNP:rs11546630</li>									<li>rs11546630</li><li>rs7226091</li><li>rs11150805</li>	2
Q6PK18	79701		<li>D->E at 67: in dbSNP:rs8072110</li><li>P->R at 272: in dbSNP:rs17852152</li>									<li>rs17852152</li><li>rs8072110</li>	2
Q6PKC3	51061		<li>V->L at 783: in dbSNP:rs3190321</li>									rs3190321	2
Q6PKH6			<li>L->M at 17: in dbSNP:rs2273947</li>									rs2273947	2
Q6PL24	283578		<li>Q->K at 5: in dbSNP:rs3742737</li>									rs3742737	2
Q6PL45	283870		<li>I->V at 46: in dbSNP:rs26857</li>									rs26857	2
Q6PML9	10463		<li>M->V at 50: in dbSNP:rs1047626</li><li>T->A at 97: in dbSNP:rs2581423</li><li>L->S at 353: in dbSNP:rs1801962</li>									<li>rs1801962</li><li>rs2581423</li><li>rs1047626</li>	2
Q6PRD1	440435		<li>Q->E at 1176: in dbSNP:rs4399578</li><li>C->R at 1381: in dbSNP:rs4398144</li><li>Q->E at 1869: in dbSNP:rs4399578</li>									<li>rs4398144</li><li>rs4399578</li>	2
Q6PRD7	752014		<li>K->E at 55: in dbSNP:rs13331643</li>									rs13331643	2
Q6PXP3	155184		<li>V->I at 135: in dbSNP:rs34545462</li>									rs34545462	2
Q6Q4G3	206338		<li>V->F at 640: in dbSNP:rs17138632</li><li>F->L at 689: in dbSNP:rs10078759</li><li>V->I at 936: in dbSNP:rs17138681</li>									<li>rs17138632</li><li>rs10078759</li><li>rs17138681</li>	2
Q6Q759	200162		<li>R->Q at 143: in dbSNP:rs12133381</li><li>E->V at 158: in dbSNP:rs17185492</li><li>T->P at 1253: in dbSNP:rs34366834</li><li>P->L at 1348: in dbSNP:rs10923472</li><li>D->E at 1707: in a colorectal cancer sample; somatic mutation</li>									<li>rs10923472</li><li>rs34366834</li><li>rs17185492</li><li>rs12133381</li>	2
Q6Q788	116519		<li>S->W at 19: in allele APOA5*3; associated with high plasma triglyceride levels; dbSNP:rs3135506</li><li>D->E at 37: in dbSNP:rs34282181</li><li>V->M at 153: in dbSNP:rs3135507</li><li>G->C at 185: associated with high plasma triglyceride levels; dbSNP:rs2075291</li>							Q6Q788		<li>rs2075291</li><li>rs3135507</li><li>rs3135506</li><li>rs34282181</li>	2
Q6Q8B3	344807		<li>R->L at 113: in dbSNP:rs4682119</li>									rs4682119	2
Q6QHK4	344018		<li>A->E at 4</li><li>Missing  at 140: in POF6; one individual with premature ovarian failure</li><li>T->S at 141: in dbSNP:rs7566476</li>									rs7566476	2
Q6QNK2	283383		<li>V->M at 508: in dbSNP:rs11833801</li><li>S->L at 523: in dbSNP:rs11061318</li>									<li>rs11061318</li><li>rs11833801</li>	2
Q6QNY1	282991		<li>S->R at 13: in dbSNP:rs33965491</li>									rs33965491	2
Q6R2W3	114821		<li>M->V at 155: in dbSNP:rs409029</li>									rs409029	2
Q6R327	253260		<li>S->F at 837: in dbSNP:rs2043112</li>									rs2043112	2
Q6RI45	254065		<li>R->K at 1288: in dbSNP:rs3122407</li><li>K->E at 1596: in MRX93; may be a rare polymorphism, MIM: 300659</li>								Mental retardation X-linked type 93 (MRX93) [MIM:300659]	rs3122407	2
Q6RUI8	84798		<li>V->I at 7: in dbSNP:rs7251816</li><li>R->C at 84: in dbSNP:rs4802741</li><li>G->E at 104: in dbSNP:rs4801853</li>									<li>rs7251816</li><li>rs4802741</li><li>rs4801853</li>	2
Q6RW13	57085		<li>A->V at 143: in dbSNP:rs17875960</li>									rs17875960	2
Q6S5H4	339010		<li>H->D at 30: in dbSNP:rs4503752</li><li>M->V at 43: in dbSNP:rs2605913</li><li>C->W at 64: in dbSNP:rs2458860</li><li>C->R at 68: in dbSNP:rs6599743</li><li>T->K at 77: in dbSNP:rs4429251</li><li>N->D at 88: in dbSNP:rs2458862</li><li>A->T at 242: in dbSNP:rs4366679</li><li>Q->E at 286: in dbSNP:rs2445603</li><li>K->E at 511: in dbSNP:rs1949282</li><li>M->K at 535: in dbSNP:rs1828869</li><li>A->V at 568: in dbSNP:rs1828868</li>									<li>rs1828869</li><li>rs2445603</li><li>rs6599743</li><li>rs1828868</li><li>rs4429251</li><li>rs2458860</li><li>rs2605913</li><li>rs4503752</li><li>rs1949282</li><li>rs2458862</li><li>rs4366679</li>	2
Q6S9Z5	133923		<li>R->H at 173: in dbSNP:rs2560306</li>									rs2560306	2
Q6SA08	283629		<li>H->Y at 33: in dbSNP:rs36036137</li><li>Y->C at 89: in dbSNP:rs34083933</li><li>V->M at 145: in dbSNP rsrs35468205</li><li>Q->R at 196: in dbSNP:rs1270764</li><li>T->M at 327: in dbSNP rsrs35244223</li>									<li>rs1270764</li><li>rs35468205</li><li>rs34083933</li><li>rs36036137</li><li>rs35244223</li>	2
Q6SJ93	374393		<li>G->D at 218: in dbSNP:rs1060428</li><li>P->A at 731: in dbSNP:rs17153376</li>									<li>rs17153376</li><li>rs1060428</li>	2
Q6SJ96	387332		<li>R->P at 31: in dbSNP:rs8019270</li>									rs8019270	2
Q6STE5	6604		<li>P->S at 170: in dbSNP:rs1050101</li>									rs1050101	2
Q6T423	387601		<li>S->G at 250: in dbSNP:rs11231409</li><li>R->T at 300: in dbSNP:rs11231397</li>									<li>rs11231397</li><li>rs11231409</li>	2
Q6T4P5	79948		<li>I->T at 193: in dbSNP:rs1540615</li><li>A->V at 690: in dbSNP:rs3746136</li>									<li>rs3746136</li><li>rs1540615</li>	2
Q6T4R5	4810		<li>A->T at 844: in a breast cancer sample; somatic mutation</li><li>F->L at 1319: in dbSNP:rs3747295</li><li>S->T at 1510: in dbSNP:rs2071848</li><li>S->T at 1535: in dbSNP:rs2071848</li>									<li>rs2071848</li><li>rs3747295</li>	2
Q6TDU7	55259		<li>R->S at 33: in dbSNP:rs10842496</li>									rs10842496	2
Q6TFL3	203238		<li>I->N at 17: in dbSNP:rs443563</li><li>S->T at 121: in dbSNP:rs4741510</li><li>N->I at 495: in dbSNP:rs10962127</li><li>C->Y at 821: in dbSNP:rs34816651</li><li>K->R at 1069: in dbSNP:rs1539172</li>									<li>rs34816651</li><li>rs443563</li><li>rs1539172</li><li>rs10962127</li><li>rs4741510</li>	2
Q6U949	51214		<li>S->I at 106: in dbSNP:rs17883406</li><li>P->T at 112: in dbSNP:rs17883142</li><li>F->V at 125: in dbSNP:rs1003483</li><li>T->A at 150: in dbSNP:rs1003484</li>									<li>rs1003483</li><li>rs1003484</li><li>rs17883406</li><li>rs17883142</li>	2
Q6UB28	254042		<li>G->V at 14: in dbSNP:rs10497377</li>									rs10497377	2
Q6UB35	25902		<li>L->R at 444: in a colorectal cancer sample; somatic mutation</li>										2
Q6UB98	23253		<li>S->T at 171</li><li>P->A at 277: in dbSNP:rs2298548</li><li>E->D at 390: in dbSNP:rs35101529</li><li>T->I at 507: in dbSNP:rs17498752</li><li>T->S at 531: in dbSNP:rs7243088</li><li>S->N at 818: in dbSNP:rs2298546</li><li>K->R at 906: in dbSNP:rs4798791</li><li>L->S at 998: in dbSNP:rs34996750</li><li>S->P at 1758: in dbSNP:rs3744822</li>									<li>rs3744822</li><li>rs17498752</li><li>rs7243088</li><li>rs2298546</li><li>rs34996750</li><li>rs4798791</li><li>rs35101529</li><li>rs2298548</li>	2
Q6UDR6	391253		<li>A->E at 30: in dbSNP:rs16990631</li><li>G->S at 73: in dbSNP:rs6017667</li>									<li>rs16990631</li><li>rs6017667</li>	2
Q6UE05	135886		<li>I->N at 14: in dbSNP:rs11770052</li><li>A->D at 70: in dbSNP:rs17852792</li><li>W->R at 78: in dbSNP:rs13227841</li>									<li>rs17852792</li><li>rs11770052</li><li>rs13227841</li>	2
Q6UQ28	349633		<li>S->P at 142: in dbSNP:rs2564872</li>									rs2564872	2
Q6UUV9	23373		<li>T->A at 286: in dbSNP:rs3746266</li><li>V->I at 311: in dbSNP:rs36070283</li><li>T->A at 328: in dbSNP:rs3746266</li>									<li>rs3746266</li><li>rs36070283</li>	2
Q6UVJ0	163786		<li>A->V at 259: in dbSNP:rs13375867</li>									rs13375867	2
Q6UVM3	343450		<li>V->I at 33: in a breast cancer sample; somatic mutation</li><li>C->W at 413: in dbSNP:rs12738104</li><li>K->N at 429: in dbSNP:rs12742082</li>									<li>rs12742082</li><li>rs12738104</li>	2
Q6UVW9	387836		<li>G->D at 136: in dbSNP:rs526680</li>									rs526680	2
Q6UVY6	26002		<li>E->Q at 488: in dbSNP:rs36075540</li><li>K->E at 539: in dbSNP:rs17851680</li>									<li>rs17851680</li><li>rs36075540</li>	2
Q6UW10	389376		<li>N->S at 37: in dbSNP:rs3131787</li>									rs3131787	2
Q6UW49	246777		<li>L->F at 133: in dbSNP:rs3743091</li><li>E->G at 191: in dbSNP:rs3743093</li>									<li>rs3743091</li><li>rs3743093</li>	2
Q6UW63	79070		<li>I->V at 114: in dbSNP:rs1047740</li>									rs1047740	2
Q6UWB4			<li>R->P at 44: in dbSNP:rs4521726</li><li>V->A at 212: in dbSNP:rs4406360</li>									<li>rs4406360</li><li>rs4521726</li>	2
Q6UWF7	54827		<li>Y->H at 398: in dbSNP:rs550897</li><li>A->V at 451: in dbSNP:rs10891705</li>									<li>rs550897</li><li>rs10891705</li>	2
Q6UWF9	389558		<li>V->I at 96: in dbSNP:rs3112374</li>									rs3112374	2
Q6UWH4	51313		<li>G->S at 432: in dbSNP:rs17857283</li>									rs17857283	2
Q6UWJ1	55002		<li>A->T at 443: in dbSNP:rs2260335</li><li>A->T at 445: in dbSNP:rs7319493</li>									<li>rs7319493</li><li>rs2260335</li>	2
Q6UWL2	64420		<li>Q->E at 201: in dbSNP:rs17829458</li><li>H->Q at 524: in dbSNP:rs17855713</li>									<li>rs17855713</li><li>rs17829458</li>	2
Q6UWM7	197021		<li>T->M at 212: in dbSNP:rs7179073</li><li>A->T at 240: in dbSNP:rs1030986</li>									<li>rs1030986</li><li>rs7179073</li>	2
Q6UWN0	147719		<li>T->S at 184: in dbSNP:rs35476281</li>									rs35476281	2
Q6UWN5	284348		<li>P->A at 47: in dbSNP:rs11547806</li>									rs11547806	2
Q6UWN8	404203		<li>P->T at 36: in dbSNP:rs12186491</li>									rs12186491	2
Q6UWQ5	84569		<li>Q->P at 62: in dbSNP:rs3818551</li>									rs3818551	2
Q6UWR7	133121		<li>D->N at 357: in dbSNP:rs4488969</li><li>S->G at 419: in dbSNP:rs4479748</li>									<li>rs4488969</li><li>rs4479748</li>	2
Q6UWV2	196264		<li>M->V at 155: in dbSNP:rs17121966</li><li>V->G at 168: in dbSNP:rs36102742</li><li>V->M at 172: in dbSNP:rs34507994</li><li>D->V at 228: in dbSNP:rs7105729</li>									<li>rs36102742</li><li>rs34507994</li><li>rs17121966</li><li>rs7105729</li>	2
Q6UWW9	131920		<li>L->V at 57: in dbSNP:rs35161724</li>									rs35161724	2
Q6UWX4	79802		<li>V->M at 241: in dbSNP:rs3811466</li>									rs3811466	2
Q6UWY0	153642		<li>Q->R at 525: in dbSNP:rs17084927</li>									rs17084927	2
Q6UWY2	400668		<li>L->P at 143: in dbSNP:rs8102982</li>									rs8102982	2
Q6UWY5	283298		<li>V->E at 113: in dbSNP:rs12805648</li><li>A->T at 259: in dbSNP:rs12803046</li>									<li>rs12803046</li><li>rs12805648</li>	2
Q6UWZ7	84142	<ul><li>S->A at 406: Abolishes phosphorylation of the pSXXF motif and the interaction with BRCA1 but does not affect the interaction with UIMC1/RAP80</li></ul>	<li>A->T at 239: in dbSNP:rs12642536</li><li>A->T at 348: common polymorphism not associated with susceptibility to breast cancer; dbSNP:rs12642536</li><li>D->N at 373: common polymorphism not associated with susceptibility to breast cancer; dbSNP:rs13125836</li>	phosphorylation	GO:0016310					<li>Q864U1</li><li>P38398</li><li>Q95153</li><li>Q6J6J0</li><li>Q96RL1</li><li>Q6J6I8</li><li>Q6J6I9</li><li>Q9GKK8</li>		<li>rs13125836</li><li>rs12642536</li>	3
Q6UX04	10283		<li>P->A at 256: in dbSNP:rs7735338</li>									rs7735338	2
Q6UX07	147015		<li>R->Q at 191: in dbSNP:rs2277666</li><li>L->Q at 336: in dbSNP:rs4795472</li>									<li>rs4795472</li><li>rs2277666</li>	2
Q6UX15	143903		<li>E->K at 66: in dbSNP:rs11827718</li>									rs11827718	2
Q6UX27	284415		<li>G->S at 163: in dbSNP:rs2433724</li>									rs2433724	2
Q6UX39	401138		<li>N->S at 45: in dbSNP:rs7660807</li><li>S->P at 50: in dbSNP:rs34803339</li><li>G->S at 78: in a colorectal cancer sample; somatic mutation</li>									<li>rs34803339</li><li>rs7660807</li>	2
Q6UX41	79908		<li>T->A at 143: in dbSNP:rs2276995</li><li>E->K at 229: in dbSNP:rs7724813</li>									<li>rs7724813</li><li>rs2276995</li>	2
Q6UX71	84898		<li>V->I at 396: in dbSNP:rs3817405</li><li>I->V at 458: in dbSNP:rs2778979</li>									<li>rs3817405</li><li>rs2778979</li>	2
Q6UX73	146556		<li>L->S at 296: in dbSNP:rs1127920</li><li>Y->H at 363: in dbSNP:rs11642955</li>									<li>rs11642955</li><li>rs1127920</li>	2
Q6UXA7	29113		<li>V->M at 5: in dbSNP:rs2270191</li><li>L->F at 40: in dbSNP:rs2233974</li><li>N->D at 43: in dbSNP:rs2233975</li><li>G->R at 48: in dbSNP:rs2233976</li><li>V->A at 81: in dbSNP:rs2233977</li><li>A->P at 83: in dbSNP:rs1265053</li><li>A->P at 145: in dbSNP:rs2233978</li><li>K->E at 165: in dbSNP:rs1265054</li><li>M->I at 232: in dbSNP:rs2233982</li><li>G->D at 291: in dbSNP:rs2233984</li>									<li>rs1265053</li><li>rs1265054</li><li>rs2233978</li><li>rs2233977</li><li>rs2270191</li><li>rs2233982</li><li>rs2233976</li><li>rs2233984</li><li>rs2233975</li><li>rs2233974</li>	2
Q6UXB0	131408		<li>C->R at 52: in dbSNP:rs13434353</li><li>S->N at 260: in a breast cancer sample; somatic mutation</li>									rs13434353	2
Q6UXB1	388555		<li>T->S at 66: in dbSNP:rs10406448</li>									rs10406448	2
Q6UXB3	137797		<li>R->Q at 5: in dbSNP:rs11778314</li><li>A->V at 7: in dbSNP:rs11775636</li>									<li>rs11775636</li><li>rs11778314</li>	2
Q6UXB8	221476		<li>T->P at 50: in dbSNP:rs1405069</li><li>L->V at 416: in dbSNP:rs16889318</li>									<li>rs16889318</li><li>rs1405069</li>	2
Q6UXC1	158056		<li>P->T at 244: in a breast cancer sample; somatic mutation</li><li>W->G at 987: in dbSNP:rs2275156</li><li>R->W at 1174: in a breast cancer sample; somatic mutation</li>									rs2275156	2
Q6UXD7	84179		<li>S->P at 170: in dbSNP:rs11558585</li>									rs11558585	2
Q6UXF1	66000		<li>P->L at 84: in dbSNP:rs34111099</li>									rs34111099	2
Q6UXG2	57535		<li>I->V at 86: in dbSNP:rs678238</li><li>T->P at 623: in dbSNP:rs659543</li><li>S->R at 829: in a breast cancer sample; somatic mutation</li><li>L->P at 1009: in dbSNP:rs1052878</li>									<li>rs1052878</li><li>rs659543</li><li>rs678238</li>	2
Q6UXG3	146894		<li>D->N at 221: in dbSNP:rs17852267</li><li>T->A at 228: in dbSNP:rs12453522</li>									<li>rs17852267</li><li>rs12453522</li>	2
Q6UXG8	153579		<li>G->R at 511: in dbSNP:rs10068763</li>									rs10068763	2
Q6UXH0	55908		<li>R->W at 59: in dbSNP:rs2278426</li><li>R->Q at 147: in dbSNP:rs34056604</li>									<li>rs34056604</li><li>rs2278426</li>	2
Q6UXH1	79174		<li>D->E at 182: in dbSNP:rs8139422</li><li>S->A at 295: in dbSNP:rs11545762</li><li>E->G at 325: in dbSNP:rs11545763</li>									<li>rs8139422</li><li>rs11545762</li><li>rs11545763</li>	2
Q6UXH8	147372		<li>V->G at 193: in dbSNP:rs11659589</li>									rs11659589	2
Q6UXH9	25891		<li>A->T at 305: in dbSNP:rs16927482</li>									rs16927482	2
Q6UXI9	255743		<li>Q->H at 159: in dbSNP:rs35132891</li><li>V->I at 234: in dbSNP:rs4340795</li><li>G->S at 473: in dbSNP:rs35613262</li><li>M->T at 476: in dbSNP:rs35488797</li>									<li>rs35488797</li><li>rs35613262</li><li>rs35132891</li><li>rs4340795</li>	2
Q6UXK2	57611		<li>S->F at 137: in dbSNP:rs3889598</li>									rs3889598	2
Q6UXK5	57633		<li>L->V at 395: in dbSNP:rs35362954</li><li>T->P at 702: in dbSNP:rs34611357</li>									<li>rs34611357</li><li>rs35362954</li>	2
Q6UXN2	285852		<li>W->R at 73: in dbSNP:rs9369265</li><li>T->K at 146: in dbSNP:rs9471515</li><li>T->I at 168: in dbSNP:rs7769759</li>									<li>rs9471515</li><li>rs7769759</li><li>rs9369265</li>	2
Q6UXN8	283420		<li>A->G at 107: in dbSNP:rs11831360</li>									rs11831360	2
Q6UXP3	645843		<li>L->P at 82: in dbSNP:rs13077912</li>									rs13077912	2
Q6UXP7	167555		<li>T->I at 155: in dbSNP:rs369998</li>									rs369998	2
Q6UXT9	116236		<li>A->T at 334: in dbSNP:rs542939</li>									rs542939	2
Q6UXU6	162461		<li>S->N at 90: in dbSNP:rs6504642</li><li>S->T at 90: in dbSNP:rs6504642</li>									rs6504642	2
Q6UXV0	389400		<li>R->C at 33: in dbSNP:rs12199003</li><li>D->H at 195: in a breast cancer sample; somatic mutation</li><li>S->P at 387: in dbSNP:rs9370418</li>									<li>rs9370418</li><li>rs12199003</li>	2
Q6UXV1	126123		<li>R->C at 139: in dbSNP:rs3745498</li>									rs3745498	2
Q6UXX5	347365		<li>G->R at 387: in dbSNP:rs34188213</li><li>R->C at 561: in dbSNP:rs34004499</li><li>W->S at 1041: in dbSNP:rs17316491</li><li>G->A at 1170: in dbSNP:rs35355718</li>									<li>rs34188213</li><li>rs17316491</li><li>rs34004499</li><li>rs35355718</li>	2
Q6UXX9	340419		<li>L->P at 186: in dbSNP:rs601558</li>									rs601558	2
Q6UY01	79782		<li>L->F at 322: in dbSNP:rs35923425</li><li>A->E at 324: in dbSNP:rs3732452</li><li>L->F at 378: in dbSNP:rs35923425</li>									<li>rs3732452</li><li>rs35923425</li>	2
Q6UY11	65989		<li>G->R at 301: in dbSNP:rs35192247</li>									rs35192247	2
Q6UYE1	220107		<li>A->V at 83: in dbSNP:rs898861</li>									rs898861	2
Q6V0I7	79633		<li>Q->L at 453: in dbSNP:rs6847454</li><li>A->V at 807: in dbSNP:rs1039808</li><li>D->N at 2826: in dbSNP:rs12508222</li><li>G->D at 3524: in dbSNP:rs1567047</li><li>K->E at 3828: in dbSNP:rs17009684</li><li>S->N at 3873: in dbSNP:rs12650153</li><li>E->K at 4374: in dbSNP:rs11942361</li><li>P->S at 4972: in dbSNP:rs1014867</li><li>A->T at 4977: in dbSNP:rs17009858</li>									<li>rs11942361</li><li>rs6847454</li><li>rs1014867</li><li>rs17009858</li><li>rs12650153</li><li>rs12508222</li><li>rs1039808</li><li>rs17009684</li><li>rs1567047</li>	2
Q6V0L0	340665		<li>R->Q at 245: in dbSNP:rs11187265</li>									rs11187265	2
Q6V1P9	54798		<li>V->A at 153: in dbSNP:rs11721758</li><li>H->R at 174: in dbSNP:rs10017772</li><li>S->L at 344: in dbSNP:rs6858712</li><li>V->I at 827: in dbSNP:rs7666283</li><li>N->S at 897: in dbSNP:rs1352714</li><li>S->L at 1205: in dbSNP:rs11935573</li><li>T->R at 1480: in dbSNP:rs17031394</li><li>T->M at 2112: in dbSNP:rs17031279</li><li>S->N at 2303: in dbSNP:rs6824133</li>									<li>rs10017772</li><li>rs17031394</li><li>rs7666283</li><li>rs1352714</li><li>rs6858712</li><li>rs17031279</li><li>rs6824133</li><li>rs11935573</li><li>rs11721758</li>	2
Q6V702	255119		<li>T->M at 138: in dbSNP:rs11947742</li><li>I->V at 220: in dbSNP:rs1052325</li>									<li>rs11947742</li><li>rs1052325</li>	2
Q6V9R5	54811		<li>F->L at 178: in dbSNP:rs1059194</li><li>K->E at 205: in dbSNP:rs1059199</li>									<li>rs1059194</li><li>rs1059199</li>	2
Q6VAB6	283455		<li>R->S at 676: in a lung adenocarcinoma sample; somatic mutation</li>										2
Q6VVB1	378884		<li>S->R at 22: in EPM2; does not significantly alters the subcellular location as compared to the wild-type, MIM: 254780</li><li>C->S at 26: in EPM2: in dbSNP rsrs28940575, MIM: 254780</li><li>F->S at 33: in EPM2, MIM: 254780</li><li>E->Q at 67: in EPM2, MIM: 254780</li><li>C->Y at 68: in EPM2, MIM: 254780</li><li>P->A at 69: in EPM2: in dbSNP rsrs28940576, MIM: 254780</li><li>L->P at 87: in EPM2, MIM: 254780</li><li>P->L at 111: common polymorphism; dbSNP:rs10949483, MIM: 254780</li><li>L->P at 126: in EPM2; the mutant protein targeted exclusively nucleus as compared to predominantly cytoplasmic and partially nuclear localization of the wild-type protein, MIM: 254780</li><li>D->N at 146: in EPM2, MIM: 254780</li><li>I->M at 153: in EPM2, MIM: 254780</li><li>C->R at 160: in EPM2, MIM: 254780</li><li>I->N at 198: in EPM2, MIM: 254780</li><li>W->R at 219: in EPM2, MIM: 254780</li><li>D->A at 233: in EPM2, MIM: 254780</li><li>D->N at 245: in EPM2, MIM: 254780</li><li>R->K at 253: in EPM2, MIM: 254780</li><li>P->H at 264: in EPM2, MIM: 254780</li><li>L->P at 279: in EPM2; significantly alters the distribution of the protein; a great majority of cells expressing the mutant form formed perinuclear inclusion when compared with the wild-type form, MIM: 254780</li><li>Missing  at 294-295: in EPM2, MIM: 254780</li><li>Q->P at 302: in EPM2, MIM: 254780</li><li>D->A at 308: in EPM2, MIM: 254780</li>	localization	GO:0051179			nucleus	GO:0005634		Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	<li>rs10949483</li><li>rs28940575</li><li>rs28940576</li>	2
Q6VVX0	120227		<li>L->P at 99: in 25HOD3D; complete loss of activity: in dbSNP rsrs61495246</li>									rs61495246	2
Q6VY07	55690		<li>F->L at 302: in dbSNP:rs12798852</li>									rs12798852	2
Q6W0C5	359787		<li>E->Q at 51: in dbSNP:rs2024320</li>									rs2024320	2
Q6W2J9	54880		<li>P->L at 85: in MCOPS2: in dbSNP rsrs28935183, MIM: 300166</li>								Microphthalmia syndromic type 2 (MCOPS2) [MIM:300166]	rs28935183	2
Q6W5P4	387129		<li>N->I at 107: in dbSNP:rs324981</li><li>R->Q at 122: in dbSNP rsrs35436513</li><li>S->G at 143: in dbSNP:rs325465</li><li>C->F at 197: in dbSNP rsrs34705969</li><li>T->I at 212: in dbSNP rsrs35537374</li><li>S->R at 241: in dbSNP:rs727162</li><li>I->T at 315: in dbSNP:rs10270766</li><li>Q->R at 344: in dbSNP:rs6972158</li>									<li>rs10270766</li><li>rs35537374</li><li>rs34705969</li><li>rs324981</li><li>rs35436513</li><li>rs6972158</li><li>rs325465</li><li>rs727162</li>	2
Q6WCQ1	23164		<li>P->Q at 327: in dbSNP:rs3744137</li>									rs3744137	2
Q6WQI6	641654		<li>W->R at 37: in dbSNP:rs3802904</li>									rs3802904	2
Q6WRI0	285313		<li>T->I at 124: in dbSNP:rs35953658</li><li>Y->D at 150: in dbSNP:rs7619322</li><li>P->S at 571: in dbSNP:rs17204557</li><li>S->A at 1199: in dbSNP:rs16863403</li><li>T->I at 1370: in dbSNP:rs34933248</li><li>Y->H at 1875: in dbSNP:rs12487205</li><li>R->W at 2476: in dbSNP:rs3732775</li><li>H->Y at 2579: in dbSNP:rs7624011</li>									<li>rs12487205</li><li>rs16863403</li><li>rs7624011</li><li>rs35953658</li><li>rs7619322</li><li>rs17204557</li><li>rs34933248</li><li>rs3732775</li>	2
Q6X4T0	121273		<li>P->S at 86: in dbSNP:rs11458</li>									rs11458	2
Q6X4U4	25928		<li>Q->H at 189: in dbSNP:rs34016012</li>									rs34016012	2
Q6X4W1	26012		<li>T->A at 480: in IHH; sporadic case; could be a rare polymorphism, MIM: 146110</li>							<li>Q98938</li><li>P79860</li><li>P79871</li><li>Q14623</li><li>P79866</li><li>O13220</li><li>O13240</li><li>P79852</li><li>O13215</li><li>P79719</li><li>O13243</li><li>P97812</li><li>P79711</li><li>Q91612</li><li>P79693</li>	Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]		2
Q6X784	124626		<li>P->A at 68: in dbSNP:rs35591738</li><li>A->T at 118: in dbSNP:rs35829084</li><li>S->I at 173: in dbSNP:rs11557467</li><li>Q->E at 335: in dbSNP:rs35302660</li>									<li>rs35591738</li><li>rs11557467</li><li>rs35829084</li><li>rs35302660</li>	2
Q6XLA1			<li>P->S at 8: in some patients with endometrial cancer</li>										2
Q6XQN6	93100		<li>A->V at 57: in dbSNP:rs896950</li>									rs896950	2
Q6XXX2			<li>S->T at 21: in dbSNP:rs2836662</li><li>N->K at 39: in dbSNP:rs11908799</li><li>A->S at 52: in dbSNP:rs11908743</li><li>M->R at 104: in dbSNP:rs16996776</li>									<li>rs16996776</li><li>rs11908743</li><li>rs2836662</li><li>rs11908799</li>	2
Q6XYB7	85474		<li>S->F at 158: in dbSNP:rs17009998</li>									rs17009998	2
Q6XYQ8	341359		<li>T->S at 420: in dbSNP:rs35190376</li><li>H->P at 488: in dbSNP:rs34190017</li><li>A->V at 505: in dbSNP:rs34361405</li>									<li>rs35190376</li><li>rs34361405</li><li>rs34190017</li>	2
Q6XZF7	23268		<li>E->D at 81: in dbSNP:rs12267912</li><li>N->K at 373: in dbSNP:rs35924554</li><li>N->K at 914: in dbSNP:rs7919507</li><li>C->W at 1413: in dbSNP:rs11190305</li>									<li>rs35924554</li><li>rs11190305</li><li>rs7919507</li><li>rs12267912</li>	2
Q6Y7W6	26058		<li>N->S at 56: may be associated with PARK11</li><li>T->A at 112: in PARK11, MIM: 607688</li><li>I->V at 278: in PARK11, MIM: 607688</li><li>S->T at 335: in PARK11, MIM: 607688</li><li>P->L at 423: in dbSNP:rs34845648, MIM: 607688</li><li>N->T at 457: in PARK11, MIM: 607688</li><li>P->T at 460: in dbSNP:rs2289912, MIM: 607688</li><li>D->E at 606: in PARK11, MIM: 607688</li><li>H->R at 1171, MIM: 607688</li><li>Missing at 1211, MIM: 607688</li><li>Q->QQ at 1212, MIM: 607688</li><li>V->I at 1242: in PARK11, MIM: 607688</li>								Parkinson disease type 11 (PARK11) [MIM:607688]	<li>rs34845648</li><li>rs2289912</li>	2
Q6YBV0	120103		<li>L->I at 209: in dbSNP:rs17854446</li><li>P->H at 376: in dbSNP:rs17854445</li><li>L->I at 429: in dbSNP:rs17854443</li>									<li>rs17854446</li><li>rs17854445</li><li>rs17854443</li>	2
Q6YHK3	135228		<li>G->V at 45: in dbSNP:rs9446983</li><li>G->D at 377: in dbSNP:rs7741152</li><li>L->F at 641: in dbSNP:rs7742662</li><li>Y->S at 703: in allele Gov: in dbSNP rsrs10455097</li><li>N->S at 797: in dbSNP:rs2351528</li><li>V->I at 845: in dbSNP:rs5023688</li><li>Q->E at 1007: in a colorectal cancer sample; somatic mutation</li><li>V->M at 1009: in dbSNP:rs35630075</li><li>N->K at 1065: in a colorectal cancer sample; somatic mutation</li><li>T->M at 1241: in dbSNP:rs2917862</li><li>H->R at 1296: in dbSNP:rs13207595</li>									<li>rs35630075</li><li>rs10455097</li><li>rs7742662</li><li>rs2351528</li><li>rs7741152</li><li>rs9446983</li><li>rs2917862</li><li>rs5023688</li><li>rs13207595</li>	2
Q6YHU6	63892		<li>E->G at 63: in dbSNP:rs10210191</li><li>V->I at 699: in dbSNP:rs17031056</li><li>T->A at 1187: in dbSNP:rs7578597</li><li>T->S at 1385: in dbSNP:rs33979934</li><li>P->S at 1451: in dbSNP:rs17334247</li><li>C->Y at 1605: in dbSNP:rs35720761</li><li>C->R at 1668: in dbSNP:rs17030648</li>									<li>rs7578597</li><li>rs10210191</li><li>rs17030648</li><li>rs17031056</li><li>rs33979934</li><li>rs35720761</li><li>rs17334247</li>	2
Q6YP21	56267		<li>S->P at 206: in dbSNP:rs1059370</li>									rs1059370	2
Q6ZMD2	201305		<li>R->G at 293: in dbSNP:rs34457931</li><li>A->S at 330: in dbSNP:rs11655342</li><li>A->T at 507: in a colorectal cancer sample; somatic mutation</li>									<li>rs11655342</li><li>rs34457931</li>	2
Q6ZMI3	342035		<li>S->N at 141: in dbSNP:rs17648128</li><li>S->N at 265: in dbSNP:rs17648128</li>									rs17648128	2
Q6ZMJ2	286133		<li>A->T at 45: in dbSNP:rs17058374</li><li>D->H at 316: in dbSNP:rs17058207</li>									<li>rs17058374</li><li>rs17058207</li>	2
Q6ZMJ4	146433		<li>E->Q at 123: in dbSNP:rs8046424</li>									rs8046424	2
Q6ZMN7	29951		<li>G->S at 429: in dbSNP:rs285584</li><li>G->R at 784: in a colorectal cancer sample; somatic mutation</li>									rs285584	2
Q6ZMN8	645121		<li>A->P at 91: in dbSNP:rs803056</li>									rs803056	2
Q6ZMQ8	9625		<li>S->F at 81: in an ovarian mucinous carcinoma sample; somatic mutation</li><li>L->V at 97: in a lung adenocarcinoma sample; somatic mutation</li><li>M->V at 104: in an ovarian mucinous carcinoma sample; somatic mutation</li><li>T->M at 118: in dbSNP:rs8082016</li><li>G->C at 703</li><li>S->R at 815</li><li>S->L at 923</li><li>E->K at 1160</li><li>P->S at 1192</li><li>F->S at 1266</li><li>A->T at 1332</li>									rs8082016	2
Q6ZMR5	339967		<li>R->Q at 293: common polymorphism; may be a susceptibility factor for developing esophageal cancer especially in smoking population; dbSNP:rs353163</li>									rs353163	2
Q6ZMT4	80853		<li>D->Y at 392: in dbSNP:rs5020212</li><li>R->S at 644: in dbSNP:rs6950119</li>									<li>rs5020212</li><li>rs6950119</li>	2
Q6ZMT9	401124		<li>G->R at 146: in dbSNP:rs16992035</li><li>D->V at 299: in dbSNP:rs1995319</li><li>R->C at 672: in dbSNP:rs12507599</li><li>R->H at 782: in dbSNP:rs9654132</li>									<li>rs12507599</li><li>rs1995319</li><li>rs9654132</li><li>rs16992035</li>	2
Q6ZMU1	388503		<li>R->Q at 172: in dbSNP:rs8113341</li><li>D->N at 230: in dbSNP:rs10403787</li><li>D->G at 251: in dbSNP:rs1993466</li><li>L->R at 262: in dbSNP:rs4552116</li>									<li>rs4552116</li><li>rs8113341</li><li>rs10403787</li><li>rs1993466</li>	2
Q6ZMV9	221458		<li>A->E at 386: in a breast cancer sample; somatic mutation</li><li>R->H at 512: in dbSNP:rs2273063</li><li>W->R at 719: in dbSNP:rs20455</li>									<li>rs2273063</li><li>rs20455</li>	2
Q6ZMW2	158431		<li>R->P at 130: in dbSNP:rs7870376</li><li>R->H at 165: in dbSNP:rs4645656</li><li>N->S at 246: in dbSNP:rs34763627</li><li>T->A at 289: in dbSNP:rs35403084</li>									<li>rs34763627</li><li>rs4645656</li><li>rs35403084</li><li>rs7870376</li>	2
Q6ZMY3	90853		<li>T->A at 109: in dbSNP:rs6664445</li><li>R->W at 436: in dbSNP:rs6669563</li><li>R->W at 671: in a breast cancer sample; somatic mutation</li>									<li>rs6664445</li><li>rs6669563</li>	2
Q6ZMY6	126248		<li>D->H at 166: in a breast cancer sample; somatic mutation</li><li>R->C at 310: in dbSNP:rs11881580</li>									rs11881580	2
Q6ZMZ3	161176		<li>T->M at 668: in dbSNP:rs9671369</li><li>R->H at 864: in dbSNP:rs17092216</li><li>A->V at 923: in dbSNP:rs12434757</li><li>I->V at 946: in dbSNP:rs10130647</li>									<li>rs9671369</li><li>rs12434757</li><li>rs17092216</li><li>rs10130647</li>	2
Q6ZN03	100126693		<li>L->F at 116: in dbSNP:rs564352</li><li>A->T at 149: in dbSNP:rs2838262</li>									<li>rs564352</li><li>rs2838262</li>	2
Q6ZN06	126017		<li>A->T at 62: in dbSNP:rs2617667</li><li>D->V at 93: in dbSNP:rs12609217</li><li>I->F at 168: in dbSNP:rs12460628</li><li>Y->C at 192: in dbSNP:rs3859494</li><li>R->K at 231: in dbSNP:rs10421308</li><li>Y->F at 439: in dbSNP:rs10422163</li>									<li>rs12460628</li><li>rs3859494</li><li>rs10421308</li><li>rs2617667</li><li>rs10422163</li><li>rs12609217</li>	2
Q6ZN11	390927		<li>I->M at 68: in dbSNP:rs12977460</li>									rs12977460	2
Q6ZN16	389840		<li>A->T at 192</li><li>S->N at 199</li><li>D->H at 226</li><li>R->S at 255: in a lung squamous cell carcinoma sample; somatic mutation</li><li>S->G at 456</li><li>R->C at 494</li><li>S->L at 562: in a lung adenocarcinoma sample; somatic mutation</li><li>R->Q at 677: in a metastatic melanoma sample; somatic mutation</li><li>G->S at 838</li><li>S->L at 993</li><li>N->H at 1029</li><li>W->R at 1247: in a colorectal adenocarcinoma sample; somatic mutation</li><li>Q->E at 1251</li>										2
Q6ZN28	346389		<li>L->V at 31: in dbSNP:rs4721888</li><li>P->L at 50: in dbSNP:rs17142503</li><li>S->L at 515: in dbSNP:rs975263</li><li>E->A at 728: in dbSNP:rs12671170</li><li>R->T at 804: in dbSNP:rs3735615</li>									<li>rs12671170</li><li>rs3735615</li><li>rs17142503</li><li>rs975263</li><li>rs4721888</li>	2
Q6ZN30	54796		<li>L->V at 550: in dbSNP:rs4961490</li><li>T->A at 782: in dbSNP:rs3739714</li>									<li>rs4961490</li><li>rs3739714</li>	2
Q6ZN32	440695		<li>S->A at 19: in dbSNP:rs16838078</li><li>R->W at 151: in dbSNP:rs12083811</li><li>G->A at 263: in dbSNP:rs12136960</li><li>M->V at 318: in dbSNP:rs12126791</li>									<li>rs16838078</li><li>rs12126791</li><li>rs12136960</li><li>rs12083811</li>	2
Q6ZN55	64763		<li>R->Q at 332: in dbSNP:rs3745226</li><li>T->S at 711: in dbSNP:rs35898322</li><li>R->Q at 785: in dbSNP:rs3745228</li>									<li>rs3745228</li><li>rs3745226</li><li>rs35898322</li>	2
Q6ZN57	80108		<li>Q->H at 113: in dbSNP:rs28678700</li><li>R->G at 142: in dbSNP:rs11956147</li>									<li>rs28678700</li><li>rs11956147</li>	2
Q6ZN66	163351		<li>T->I at 278: in dbSNP:rs4582772</li><li>A->S at 331: in dbSNP:rs4658359</li><li>L->F at 344: in dbSNP:rs4658360</li><li>M->V at 355: in dbSNP:rs4658146</li><li>D->V at 520: in dbSNP:rs959460</li>									<li>rs4658360</li><li>rs4582772</li><li>rs4658146</li><li>rs4658359</li><li>rs959460</li>	2
Q6ZN68			<li>M->V at 66: in dbSNP:rs7796589</li><li>N->I at 333: in dbSNP:rs17136078</li>									<li>rs7796589</li><li>rs17136078</li>	2
Q6ZN79	440077		<li>K->Q at 142: in dbSNP:rs10743253</li>									rs10743253	2
Q6ZN84	60494		<li>Y->C at 449: in dbSNP:rs3741005</li>									rs3741005	2
Q6ZN90	649179		<li>R->Q at 7: in dbSNP:rs986645</li><li>E->D at 25: in dbSNP:rs369613</li><li>A->T at 186: in dbSNP:rs238775</li><li>L->F at 291: in dbSNP:rs238774</li><li>R->K at 396: in dbSNP:rs9607485</li>									<li>rs9607485</li><li>rs986645</li><li>rs238775</li><li>rs369613</li><li>rs238774</li>	2
Q6ZNA1	162962		<li>M->I at 219: in dbSNP:rs1366245</li><li>N->S at 809: in dbSNP:rs8113504</li>									<li>rs1366245</li><li>rs8113504</li>	2
Q6ZNA4	54778		<li>K->N at 9: in dbSNP:rs2899642</li>									rs2899642	2
Q6ZNB6	152518		<li>P->L at 246: in dbSNP:rs12651301</li>									rs12651301	2
Q6ZNC4	619279		<li>A->S at 35: in dbSNP:rs3907424</li>									rs3907424	2
Q6ZNC8	154141		<li>I->V at 450: in dbSNP:rs2065649</li>									rs2065649	2
Q6ZNE5	22863		<li>N->K at 131: in dbSNP:rs17675076</li>									rs17675076	2
Q6ZNG2	440097		<li>V->M at 171: in dbSNP:rs2731038</li>									rs2731038	2
Q6ZNG9	124751		<li>T->M at 435: in dbSNP:rs370752</li>									rs370752	2
Q6ZNJ1	23218		<li>R->H at 447: in dbSNP:rs17079425</li><li>R->G at 511: in dbSNP:rs11720139</li><li>A->G at 1877: in dbSNP:rs4682830</li><li>S->F at 2054: in dbSNP:rs2305637</li><li>E->K at 2747: in dbSNP:rs12893</li>									<li>rs17079425</li><li>rs12893</li><li>rs2305637</li><li>rs11720139</li><li>rs4682830</li>	2
Q6ZNQ3	100130742		<li>T->I at 64: in dbSNP:rs11785003</li>									rs11785003	2
Q6ZNW5			<li>T->M at 37: in dbSNP:rs7171194</li><li>T->P at 264: in dbSNP:rs10152994</li><li>I->T at 307: in dbSNP:rs10153004</li>									<li>rs10153004</li><li>rs7171194</li><li>rs10152994</li>	2
Q6ZP01	375316		<li>D->H at 52: in dbSNP:rs13393001</li><li>N->H at 892: in dbSNP:rs10186505</li>									<li>rs10186505</li><li>rs13393001</li>	2
Q6ZP29	54896		<li>S->N at 16: in dbSNP:rs12140547</li>									rs12140547	2
Q6ZP80	130827		<li>R->W at 223: in dbSNP:rs887987</li>									rs887987	2
Q6ZP82	285025		<li>R->W at 253: in dbSNP:rs12988301</li><li>R->W at 360: in dbSNP:rs17362588</li><li>N->S at 595: in dbSNP:rs13419085</li>									<li>rs17362588</li><li>rs13419085</li><li>rs12988301</li>	2
Q6ZPD9	147991		<li>M->V at 350: in dbSNP:rs8105178</li>									rs8105178	2
Q6ZQR2	389799		<li>G->R at 137: in dbSNP:rs7047726</li><li>R->W at 172: in a colorectal cancer sample; somatic mutation</li><li>R->H at 184: in dbSNP:rs11243798</li>									<li>rs7047726</li><li>rs11243798</li>	2
Q6ZQR6			<li>H->R at 7: in dbSNP:rs485411</li><li>S->R at 57: in dbSNP:rs501764</li>									<li>rs501764</li><li>rs485411</li>	2
Q6ZQW0	169355		<li>R->W at 235: in dbSNP:rs10109853</li>									rs10109853	2
Q6ZQX7	400566		<li>E->K at 56: in dbSNP:rs4581766</li><li>E->D at 220: in dbSNP:rs35229416</li>									<li>rs35229416</li><li>rs4581766</li>	2
Q6ZQY2			<li>G->R at 3: in dbSNP:rs12170538</li><li>R->C at 77: in dbSNP:rs9620774</li>									<li>rs12170538</li><li>rs9620774</li>	2
Q6ZR08	201625		<li>Y->F at 2740: in dbSNP:rs17057989</li><li>G->S at 2893: in dbSNP:rs4060726</li>									<li>rs4060726</li><li>rs17057989</li>	2
Q6ZR37	440107		<li>D->G at 99: in dbSNP:rs17790310</li><li>M->T at 212: in dbSNP:rs924326</li>									<li>rs924326</li><li>rs17790310</li>	2
Q6ZR52	284443		<li>C->F at 195: in dbSNP:rs4621113</li><li>L->V at 292: in dbSNP:rs10414834</li>									<li>rs10414834</li><li>rs4621113</li>	2
Q6ZR62	340595		<li>L->P at 27: in dbSNP:rs6568050</li><li>D->Y at 162: in dbSNP:rs7474140</li>									<li>rs6568050</li><li>rs7474140</li>	2
Q6ZRC1	389197		<li>R->W at 86: in dbSNP:rs16837960</li><li>A->P at 150: in a breast cancer sample; somatic mutation</li><li>I->V at 177: in dbSNP:rs6839295</li><li>V->M at 199: in dbSNP:rs7695618</li>									<li>rs6839295</li><li>rs7695618</li><li>rs16837960</li>	2
Q6ZRF7			<li>E->K at 14: in dbSNP:rs10853858</li>									rs10853858	2
Q6ZRF8	388591		<li>A->T at 421: in dbSNP:rs12073329</li><li>N->S at 573: in dbSNP:rs709209</li><li>G->A at 603: in dbSNP:rs846111</li>									<li>rs846111</li><li>rs709209</li><li>rs12073329</li>	2
Q6ZRI0	340990		<li>T->S at 375: in dbSNP:rs7130190</li><li>T->M at 659: in dbSNP:rs7112749</li><li>S->P at 692: in dbSNP:rs7106548</li><li>A->T at 919: in dbSNP:rs2355466</li><li>R->Q at 1075: in dbSNP:rs11024333</li><li>A->V at 1112: in dbSNP:rs7936324</li><li>P->L at 1129: in dbSNP:rs7936354</li><li>A->G at 1399: in dbSNP:rs4491195</li><li>P->L at 1647: in dbSNP:rs2041028</li><li>A->V at 1832: in dbSNP:rs1003490</li><li>T->M at 1947: in dbSNP:rs7111528</li><li>A->V at 2006: in dbSNP:rs11024341</li><li>R->Q at 2750: in dbSNP:rs12422210</li><li>W->S at 2909: in dbSNP:rs11024357</li>									<li>rs7936354</li><li>rs1003490</li><li>rs11024341</li><li>rs12422210</li><li>rs7936324</li><li>rs7112749</li><li>rs7106548</li><li>rs7130190</li><li>rs11024333</li><li>rs11024357</li><li>rs2041028</li><li>rs2355466</li><li>rs4491195</li><li>rs7111528</li>	2
Q6ZRI6	56905		<li>A->P at 119: in dbSNP:rs1873379</li><li>D->G at 491: in dbSNP:rs11072532</li><li>S->A at 536: in dbSNP:rs28509789</li><li>D->G at 945: in dbSNP:rs3743211</li>									<li>rs1873379</li><li>rs28509789</li><li>rs3743211</li><li>rs11072532</li>	2
Q6ZRM9			<li>A->V at 149: in dbSNP:rs12667117</li><li>V->M at 158: in dbSNP:rs12671601</li><li>F->L at 205: in dbSNP:rs10274643</li>									<li>rs12671601</li><li>rs12667117</li><li>rs10274643</li>	2
Q6ZRN7	100128770		<li>A->G at 108: in dbSNP:rs7206805</li>									rs7206805	2
Q6ZRP5	100129240		<li>R->H at 2: in dbSNP:rs11944677</li>									rs11944677	2
Q6ZRP7	169714		<li>K->E at 126: in dbSNP:rs12380852</li>									rs12380852	2
Q6ZRQ5	253714		<li>N->D at 419: in dbSNP:rs9374435</li><li>T->M at 564: in dbSNP:rs9481410</li><li>V->A at 875: in dbSNP:rs1737145</li><li>P->L at 1015: in dbSNP:rs10484830</li>									<li>rs1737145</li><li>rs10484830</li><li>rs9374435</li><li>rs9481410</li>	2
Q6ZRS4	223075		<li>A->D at 32: in dbSNP:rs7811042</li><li>L->V at 105: in a colorectal cancer sample; somatic mutation</li><li>V->A at 342: in dbSNP:rs4141001</li><li>Y->C at 661: in dbSNP:rs10247620</li><li>H->Y at 739: in dbSNP:rs7799540</li>									<li>rs10247620</li><li>rs4141001</li><li>rs7799540</li><li>rs7811042</li>	2
Q6ZS02			<li>L->V at 147: in dbSNP:rs4965539</li>									rs4965539	2
Q6ZS11	126432		<li>P->L at 288: in dbSNP:rs8110393</li>									rs8110393	2
Q6ZS81	57705		<li>S->P at 214: in dbSNP:rs7072606</li><li>S->F at 944: in dbSNP:rs12242384</li><li>S->N at 2527: in dbSNP:rs2663046</li>									<li>rs2663046</li><li>rs7072606</li><li>rs12242384</li>	2
Q6ZS82	388531		<li>A->S at 96: in dbSNP:rs259290</li>									rs259290	2
Q6ZSC3	375287		<li>I->V at 259: in dbSNP:rs35749426</li>									rs35749426	2
Q6ZSG2	642938		<li>A->V at 147: in dbSNP:rs11594560</li>									rs11594560	2
Q6ZSH3			<li>E->D at 145: in dbSNP:rs2879897</li>									rs2879897	2
Q6ZSI9	147968		<li>C->R at 287: in dbSNP:rs12983010</li>									rs12983010	2
Q6ZSJ8			<li>P->Q at 39: in dbSNP:rs11539701</li>									rs11539701	2
Q6ZSS7	54842		<li>R->G at 205: in dbSNP:rs9646748</li>									rs9646748	2
Q6ZST4			<li>T->A at 68: in dbSNP:rs17578859</li>									rs17578859	2
Q6ZSY5	89801		<li>F->S at 351: in dbSNP:rs17148347</li>									rs17148347	2
Q6ZSZ5	23370		<li>R->Q at 701: in dbSNP:rs2287918</li><li>R->Q at 752: in dbSNP:rs2287920</li>									<li>rs2287918</li><li>rs2287920</li>	2
Q6ZT07	23158		<li>E->K at 7: in dbSNP:rs13108827</li><li>E->K at 779: in dbSNP:rs13118702</li>									<li>rs13118702</li><li>rs13108827</li>	2
Q6ZT83			<li>R->W at 88: in dbSNP:rs6565904</li>									rs6565904	2
Q6ZTK2			<li>Q->R at 100: in dbSNP:rs8050530</li><li>Q->H at 183: in dbSNP:rs7206698</li><li>V->A at 275: in dbSNP:rs12932948</li><li>E->Q at 330: in dbSNP:rs12933868</li><li>V->I at 345: in dbSNP:rs13337464</li><li>T->A at 368: in dbSNP:rs4467099</li><li>W->R at 419: in dbSNP:rs4238608</li>									<li>rs7206698</li><li>rs4238608</li><li>rs12932948</li><li>rs4467099</li><li>rs13337464</li><li>rs12933868</li><li>rs8050530</li>	2
Q6ZTQ3	166824		<li>S->P at 163: in dbSNP:rs12507775</li><li>A->G at 306: in dbSNP:rs17804499</li>									<li>rs12507775</li><li>rs17804499</li>	2
Q6ZTQ4	222256		<li>V->M at 55: in dbSNP:rs35008315</li><li>Q->H at 61: in dbSNP:rs34426483</li><li>C->Y at 529: in dbSNP:rs6967330</li>									<li>rs34426483</li><li>rs35008315</li><li>rs6967330</li>	2
Q6ZTR7	339145		<li>E->K at 22: in dbSNP:rs9934891</li>									rs9934891	2
Q6ZTR8	201625		<li>V->A at 32: in dbSNP:rs9311651</li><li>S->N at 139: in dbSNP:rs6778837</li><li>D->E at 224: in dbSNP:rs6445902</li><li>T->A at 231: in dbSNP:rs7629743</li>									<li>rs6445902</li><li>rs7629743</li><li>rs6778837</li><li>rs9311651</li>	2
Q6ZTY8	374467		<li>G->S at 387: in dbSNP:rs11108639</li><li>P->L at 593: in dbSNP:rs11108643</li><li>K->E at 666: in dbSNP:rs7968231</li><li>E->K at 710: in dbSNP:rs10860073</li><li>V->A at 783: in dbSNP:rs7978894</li><li>N->S at 790: in dbSNP:rs1990828</li><li>P->H at 1107: in dbSNP:rs12581184</li>									<li>rs1990828</li><li>rs11108639</li><li>rs12581184</li><li>rs7978894</li><li>rs10860073</li><li>rs7968231</li><li>rs11108643</li>	2
Q6ZU11	91431		<li>I->T at 232: in dbSNP:rs3828539</li><li>S->L at 390: in dbSNP:rs17605622</li><li>S->C at 518: in dbSNP:rs3762891</li>									<li>rs3762891</li><li>rs3828539</li><li>rs17605622</li>	2
Q6ZU35	57482		<li>L->I at 269: in dbSNP:rs6823339</li><li>P->R at 655: in dbSNP:rs7672073</li><li>R->Q at 710: in dbSNP:rs3796546</li><li>S->L at 776: in dbSNP:rs3796547</li>									<li>rs3796547</li><li>rs7672073</li><li>rs6823339</li><li>rs3796546</li>	2
Q6ZU52	9729		<li>S->R at 61: in dbSNP:rs3734447</li><li>S->L at 331: in dbSNP:rs2236026</li>									<li>rs3734447</li><li>rs2236026</li>	2
Q6ZU64	255101		<li>M->L at 66: in dbSNP:rs6736922</li><li>V->I at 672: in dbSNP:rs13403802</li><li>K->M at 806: in dbSNP:rs9653262</li><li>N->S at 1858: in dbSNP:rs11893183</li>									<li>rs13403802</li><li>rs11893183</li><li>rs6736922</li><li>rs9653262</li>	2
Q6ZU65	254048		<li>P->A at 1308: in dbSNP:rs17160850</li>									rs17160850	2
Q6ZU80	145508		<li>R->L at 16: in dbSNP:rs7160694</li><li>H->R at 732: in dbSNP:rs327463</li>									<li>rs327463</li><li>rs7160694</li>	2
Q6ZUB1	286234		<li>T->P at 335: in dbSNP:rs7850542</li><li>V->M at 409: in dbSNP:rs34946554</li><li>K->E at 586: in dbSNP:rs35232271</li><li>T->M at 671: in dbSNP:rs36079890</li><li>D->E at 682: in dbSNP:rs4076795</li><li>G->R at 700: in dbSNP:rs34017995</li><li>D->E at 704: in dbSNP:rs4076794</li><li>A->V at 736: in dbSNP:rs34791830</li><li>P->L at 924: in dbSNP:rs34051334</li><li>V->E at 1019: in dbSNP:rs10868670</li><li>D->G at 1202: in dbSNP:rs11789780</li><li>R->H at 1350: in dbSNP:rs11142017</li>									<li>rs11142017</li><li>rs10868670</li><li>rs34017995</li><li>rs11789780</li><li>rs34791830</li><li>rs36079890</li><li>rs34946554</li><li>rs34051334</li><li>rs7850542</li><li>rs4076794</li><li>rs35232271</li><li>rs4076795</li>	2
Q6ZUF6	401253		<li>S->R at 13: in dbSNP:rs7759154</li><li>L->P at 73: in dbSNP:rs210162</li><li>P->S at 84: in dbSNP:rs9469517</li>									<li>rs9469517</li><li>rs210162</li><li>rs7759154</li>	2
Q6ZUJ4	375341		<li>E->K at 110: in dbSNP:rs13077498</li>									rs13077498	2
Q6ZUJ8	118788		<li>E->K at 21: in dbSNP:rs17112076</li><li>A->S at 83: in dbSNP:rs3748229</li><li>E->K at 551: in dbSNP:rs3748233</li><li>K->R at 638: in dbSNP:rs12784975</li>									<li>rs17112076</li><li>rs12784975</li><li>rs3748233</li><li>rs3748229</li>	2
Q6ZUL3	389649		<li>R->H at 81: in dbSNP:rs1378332</li>									rs1378332	2
Q6ZUM4	201175		<li>Q->H at 889: in dbSNP:rs34793644</li>									rs34793644	2
Q6ZUT3	90167		<li>G->E at 24: in NYS1, MIM: 310700</li><li>G->R at 24: in NYS1, MIM: 310700</li><li>L->R at 142: in NYS1, MIM: 310700</li><li>N->D at 221: in NYS1, MIM: 310700</li><li>A->T at 226: in NYS1, MIM: 310700</li><li>L->V at 231: in NYS1, MIM: 310700</li><li>A->P at 266: in NYS1, MIM: 310700</li><li>C->Y at 271: in NYS1, MIM: 310700</li><li>S->L at 281: in dbSNP:rs5977625, MIM: 310700</li><li>Y->C at 301: in NYS1, MIM: 310700</li><li>S->L at 340: in NYS1, MIM: 310700</li><li>R->H at 468: in dbSNP:rs6637934, MIM: 310700</li>								X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	<li>rs5977625</li><li>rs6637934</li>	2
Q6ZUT6	388115		<li>G->E at 189: in a colorectal cancer sample; somatic mutation</li>										2
Q6ZUT9	160518		<li>R->K at 52: in dbSNP:rs4930979</li><li>H->N at 487: in dbSNP:rs1056320</li>									<li>rs1056320</li><li>rs4930979</li>	2
Q6ZUX3	165186		<li>A->T at 55: in dbSNP:rs13009279</li><li>Q->R at 265: in dbSNP:rs12623297</li><li>Q->R at 362: in dbSNP:rs11127202</li><li>I->V at 441: in dbSNP:rs1109758</li><li>V->A at 535: in dbSNP:rs6721861</li><li>T->A at 941: in dbSNP:rs895591</li><li>G->V at 944: in dbSNP:rs7577483</li>									<li>rs13009279</li><li>rs895591</li><li>rs6721861</li><li>rs11127202</li><li>rs12623297</li><li>rs7577483</li><li>rs1109758</li>	2
Q6ZUX7	10184		<li>I->V at 102: in dbSNP:rs2303654</li>									rs2303654	2
Q6ZV23			<li>I->V at 287: in dbSNP:rs1488596</li>									rs1488596	2
Q6ZV29	375775		<li>R->Q at 323: in dbSNP:rs11137410</li><li>Q->E at 364: in dbSNP:rs3750378</li><li>E->D at 368: in dbSNP:rs3750379</li><li>V->A at 803: in dbSNP:rs1891630</li><li>V->M at 824: in dbSNP:rs34938599</li><li>P->L at 908: in dbSNP:rs3812499</li><li>L->M at 993: in dbSNP:rs35177111</li>									<li>rs34938599</li><li>rs1891630</li><li>rs3812499</li><li>rs11137410</li><li>rs35177111</li><li>rs3750378</li><li>rs3750379</li>	2
Q6ZV73	55785		<li>Q->R at 257: in dbSNP:rs10507047</li><li>E->K at 1393: in dbSNP:rs3794255</li>									<li>rs3794255</li><li>rs10507047</li>	2
Q6ZV77	401563		<li>K->E at 168: in dbSNP:rs12337910</li>									rs12337910	2
Q6ZVD7	219736		<li>R->P at 18: in PEE4, MIM: 609404</li><li>Y->H at 153: in PEE4; dbSNP:rs1341667, MIM: 609404</li><li>E->D at 608: in dbSNP:rs10509305, MIM: 609404</li><li>N->I at 825: in PEE4: in dbSNP rsrs41278532, MIM: 609404</li><li>A->T at 863: in dbSNP:rs7904300, MIM: 609404</li>								Pre-eclampsia/eclampsia 4 (PEE4) [MIM:609404]	<li>rs7904300</li><li>rs1341667</li><li>rs41278532</li><li>rs10509305</li>	2
Q6ZVF9	285513		<li>L->V at 39: in dbSNP:rs11734353</li><li>A->V at 378: in dbSNP:rs6811370</li><li>S->P at 382: in dbSNP:rs28622301</li><li>P->S at 390: in dbSNP:rs11733183</li><li>V->A at 446: in dbSNP:rs7653897</li><li>R->K at 746: in dbSNP:rs17015286</li>									<li>rs28622301</li><li>rs17015286</li><li>rs11733183</li><li>rs6811370</li><li>rs11734353</li><li>rs7653897</li>	2
Q6ZVH7	339768		<li>R->Q at 167: in dbSNP:rs34046909</li><li>I->V at 568: in dbSNP:rs13033248</li><li>A->S at 574: in dbSNP:rs13006204</li><li>A->V at 761: in dbSNP:rs4663845</li><li>Q->R at 829: in dbSNP:rs10172220</li>									<li>rs13006204</li><li>rs4663845</li><li>rs10172220</li><li>rs34046909</li><li>rs13033248</li>	2
Q6ZVL8	100128231		<li>T->A at 30: in dbSNP:rs8060538</li><li>G->R at 75: in dbSNP:rs8055082</li><li>K->R at 82: in dbSNP:rs9940490</li><li>P->S at 105: in dbSNP:rs8053661</li><li>C->S at 136: in dbSNP:rs8055382</li>									<li>rs9940490</li><li>rs8060538</li><li>rs8055082</li><li>rs8055382</li><li>rs8053661</li>	2
Q6ZVN6			<li>S->I at 53: in dbSNP:rs2289585</li>									rs2289585	2
Q6ZVN8	148738		<li>C->R at 80: in HFE2A: in dbSNP rsrs28940586, MIM: 602390</li><li>S->P at 85: in HFE2A, MIM: 602390</li><li>G->R at 99: in HFE2A, MIM: 602390</li><li>L->P at 101: in HFE2A, MIM: 602390</li><li>A->D at 168: in HFE2A, MIM: 602390</li><li>F->S at 170: in HFE2A, MIM: 602390</li><li>D->E at 172: in HFE2A, MIM: 602390</li><li>W->C at 191: in HFE2A, MIM: 602390</li><li>S->R at 205: in HFE2A, MIM: 602390</li><li>I->N at 222: in HFE2A, MIM: 602390</li><li>G->V at 250: in HFE2A, MIM: 602390</li><li>R->W at 288: in HFE2A, MIM: 602390</li><li>A->G at 310: in dbSNP:rs7540883, MIM: 602390</li><li>G->V at 320: in HFE2A, MIM: 602390</li><li>C->W at 321: in HFE2A, MIM: 602390</li>								Hemochromatosis type 2A (HFE2A) [MIM:602390]	<li>rs7540883</li><li>rs28940586</li>	2
Q6ZVT0	254173		<li>A->T at 130: in a colorectal cancer sample; somatic mutation</li><li>V->A at 249: in dbSNP:rs13374146</li><li>S->N at 448: in dbSNP:rs1320571</li>									<li>rs13374146</li><li>rs1320571</li>	2
Q6ZVW7	400935		<li>L->P at 333: in dbSNP:rs5771069</li>									rs5771069	2
Q6ZVZ8	401036		<li>A->T at 104: in dbSNP:rs6756597</li><li>A->P at 127: in dbSNP:rs7588748</li><li>H->N at 407: in dbSNP:rs10177957</li>									<li>rs10177957</li><li>rs6756597</li><li>rs7588748</li>	2
Q6ZW49	22976		<li>M->V at 979: in dbSNP:rs3501</li>									rs3501	2
Q6ZW61	166379		<li>I->T at 39</li><li>Missing  at 113: in BBS12</li><li>E->D at 126: in dbSNP:rs309369</li><li>P->L at 159: in BBS12; pathogenicity uncertain, MIM: 209900</li><li>I->V at 170, MIM: 209900</li><li>K->R at 195: in dbSNP:rs17854892, MIM: 209900</li><li>N->K at 238: in dbSNP:rs17006082, MIM: 209900</li><li>A->P at 289: in BBS12, MIM: 209900</li><li>Q->R at 386: in dbSNP:rs309370, MIM: 209900</li><li>S->T at 429: in dbSNP:rs7665271, MIM: 209900</li><li>N->H at 461: in dbSNP:rs10027479, MIM: 209900</li><li>D->N at 467: in dbSNP:rs13135778, MIM: 209900</li><li>R->K at 484: in dbSNP:rs35690634, MIM: 209900</li><li>G->V at 540: in BBS12, MIM: 209900</li><li>A->V at 615: in dbSNP:rs17857451, MIM: 209900</li>								Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]	<li>rs17006082</li><li>rs309370</li><li>rs17857451</li><li>rs17854892</li><li>rs13135778</li><li>rs309369</li><li>rs35690634</li><li>rs10027479</li><li>rs7665271</li>	2
Q6ZW76	124401		<li>A->T at 404: in dbSNP:rs863980</li><li>A->T at 593: in dbSNP:rs9936675</li>									<li>rs863980</li><li>rs9936675</li>	2
Q6ZWB6	386617		<li>P->L at 329: in dbSNP:rs13115990</li>									rs13115990	2
Q6ZWH5	152110		<li>F->L at 50</li><li>A->V at 66: in an ovarian mucinous carcinoma sample; somatic mutation</li><li>G->S at 67</li><li>E->K at 379: in a metastatic melanoma sample; somatic mutation</li><li>L->S at 513</li><li>N->S at 659</li><li>L->V at 701</li>										2
Q6ZWI9	442247		<li>G->D at 234: in dbSNP:rs11153361</li>									rs11153361	2
Q6ZWJ8	375616		<li>G->E at 47: in dbSNP:rs7787221</li>									rs7787221	2
Q6ZWK6	389208		<li>A->T at 4: in dbSNP:rs10030708</li><li>D->N at 124: in dbSNP:rs1438391</li>									<li>rs1438391</li><li>rs10030708</li>	2
Q6ZWL3	285440		<li>L->V at 22: in dbSNP:rs1055138</li><li>W->R at 44: in BCD, MIM: 210370</li><li>G->S at 61: in BCD, MIM: 210370</li><li>E->D at 79: in BCD, MIM: 210370</li><li>I->T at 111: in BCD, MIM: 210370</li><li>M->V at 123: in BCD, MIM: 210370</li><li>S->N at 213: in dbSNP:rs34331648, MIM: 210370</li><li>K->Q at 259: in dbSNP:rs13146272, MIM: 210370</li><li>H->P at 331: in BCD, MIM: 210370</li><li>S->P at 341: in BCD, MIM: 210370</li><li>R->H at 508: in BCD, MIM: 210370</li>								Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]	<li>rs1055138</li><li>rs13146272</li><li>rs34331648</li>	2
Q6ZWT7	129642		<li>T->A at 501: in dbSNP:rs16866827</li>									rs16866827	2
Q6ZYL4	404672		<li>L->P at 21: in TTDP, MIM: 601675</li>								Trichothiodystrophy photosensitive (TTDP) [MIM:601675]		2
Q702N8	165904		<li>D->N at 3: in dbSNP:rs2271488</li><li>Q->R at 346: in dbSNP:rs6805248</li><li>R->Q at 551: in dbSNP:rs34121641</li><li>L->H at 929: in a breast cancer sample; somatic mutation</li><li>H->P at 965: in dbSNP:rs11711871</li><li>P->A at 1046: in dbSNP:rs35649793</li><li>G->R at 1604: in dbSNP:rs3732383</li><li>A->V at 1608: in dbSNP:rs34810344</li><li>R->K at 1634: in a breast cancer sample; somatic mutation</li><li>I->V at 1724: in dbSNP:rs9827576</li>									<li>rs2271488</li><li>rs3732383</li><li>rs9827576</li><li>rs11711871</li><li>rs34810344</li><li>rs35649793</li><li>rs6805248</li><li>rs34121641</li>	2
Q709C8	54832		<li>R->H at 153: in dbSNP:rs12595158</li><li>R->K at 974: in dbSNP:rs3784634</li><li>I->V at 1132: in dbSNP:rs3784635</li><li>Y->C at 1302: in dbSNP:rs2303405</li><li>T->A at 1485: in dbSNP:rs8026956</li><li>I->V at 1495: in dbSNP:rs11629598</li><li>S->Y at 1592: in dbSNP:rs11629838</li><li>V->M at 2322: in dbSNP:rs12907567</li><li>K->R at 2808: in dbSNP:rs34060567</li><li>S->N at 2913: in dbSNP:rs10851704</li>									<li>rs11629598</li><li>rs3784635</li><li>rs3784634</li><li>rs10851704</li><li>rs2303405</li><li>rs12595158</li><li>rs34060567</li><li>rs12907567</li><li>rs8026956</li><li>rs11629838</li>	2
Q709F0	84129		<li>R->H at 157: in dbSNP:rs821572</li><li>V->L at 362: in dbSNP:rs6776576</li>									<li>rs821572</li><li>rs6776576</li>	2
Q70CQ2	9736		<li>M->T at 661: in dbSNP:rs6722430</li><li>L->R at 1663: in dbSNP:rs6723818</li><li>D->N at 2348: in dbSNP:rs4386306</li>									<li>rs6722430</li><li>rs4386306</li><li>rs6723818</li>	2
Q70CQ4	57478		<li>D->Y at 445: in dbSNP:rs1978066</li><li>Q->H at 532: in dbSNP:rs4597335</li><li>I->T at 538: in dbSNP:rs13339649</li><li>A->T at 552: in dbSNP:rs9932912</li><li>R->L at 931: in dbSNP:rs10083789</li><li>D->N at 1269: in dbSNP:rs35541113</li><li>R->C at 1309: in dbSNP:rs35254998</li>									<li>rs13339649</li><li>rs1978066</li><li>rs4597335</li><li>rs9932912</li><li>rs35254998</li><li>rs35541113</li><li>rs10083789</li>	2
Q70E73	65059		<li>A->S at 891: in a breast cancer sample; somatic mutation</li><li>T->A at 1228: in a breast cancer sample; somatic mutation</li>										2
Q70EK8	54532		<li>S->R at 962: in dbSNP:rs3749591</li>									rs3749591	2
Q70EL1	159195		<li>L->V at 505: in a breast cancer sample; somatic mutation</li><li>K->E at 976: in dbSNP:rs1618542</li><li>D->N at 1231: in dbSNP:rs4619071</li><li>G->D at 1367: in dbSNP:rs7083344</li>									<li>rs1618542</li><li>rs7083344</li><li>rs4619071</li>	2
Q70EL2			<li>K->E at 67: in dbSNP:rs7744845</li><li>S->N at 778: in dbSNP:rs6570065</li>									<li>rs6570065</li><li>rs7744845</li>	2
Q70J99	201294		<li>A->T at 59: in dbSNP:rs9904366</li><li>H->Q at 858: in dbSNP:rs17496835</li><li>K->E at 867: in dbSNP:rs1135688</li>									<li>rs1135688</li><li>rs9904366</li><li>rs17496835</li>	2
Q70JA7	337876		<li>G->E at 615: in dbSNP:rs10068403</li><li>D->G at 764: in dbSNP:rs2015018</li>									<li>rs10068403</li><li>rs2015018</li>	2
Q70UQ0	121457		<li>G->S at 265: in dbSNP:rs1048906</li>									rs1048906	2
Q70YC4	22891		<li>T->A at 62: in dbSNP:rs7076156</li>									rs7076156	2
Q70YC5			<li>S->A at 337: in dbSNP:rs3758490</li>									rs3758490	2
Q70Z35	80243		<li>D->N at 312: in dbSNP:rs11784582</li><li>V->I at 537: in a colorectal cancer sample; somatic mutation</li><li>A->E at 1571: in a colorectal cancer sample; somatic mutation</li>									rs11784582	2
Q70Z44	200909		<li>A->G at 171: in dbSNP:rs6443930</li><li>R->H at 225: in dbSNP:rs1000952</li><li>R->H at 435: in dbSNP:rs6789754</li>									<li>rs6789754</li><li>rs1000952</li><li>rs6443930</li>	2
Q70Z53	118924		<li>H->R at 16: in dbSNP:rs726817</li><li>R->T at 78: in dbSNP:rs2275438</li>									<li>rs726817</li><li>rs2275438</li>	2
Q711Q0	118461		<li>N->K at 208: in dbSNP:rs4838383</li><li>H->Q at 666: in dbSNP:rs10857469</li>									<li>rs4838383</li><li>rs10857469</li>	2
Q719H9	284252		<li>L->W at 107: in dbSNP:rs491684</li>									rs491684	2
Q719I0	130872		<li>M->T at 248: in a breast cancer sample; somatic mutation</li>										2
Q71F56	23389		<li>E->G at 251: in DTGA: in dbSNP rsrs28940309, MIM: 608808</li><li>R->H at 1872: in DTGA: in dbSNP rsrs28940310, MIM: 608808</li><li>D->G at 2023: in DTGA, MIM: 608808</li>								Transposition of the great arteries, dextro-looped (DTGA) [MIM:608808]	<li>rs28940309</li><li>rs28940310</li>	2
Q71H61	387597		<li>V->I at 202: in dbSNP:rs33958744</li>									rs33958744	2
Q71RG4	79089		<li>R->H at 228: in dbSNP:rs9895154</li>									rs9895154	2
Q71RS6	283652		<li>T->A at 111: associated with SHEP4; dbSNP:rs1426654</li>									rs1426654	2
Q71U36	7846		<li>I->L at 188: in LIS3, MIM: 611603</li><li>P->T at 263: in LIS3, MIM: 611603</li><li>R->C at 264: in LIS3, MIM: 611603</li><li>L->F at 286: in LIS3, MIM: 611603</li><li>R->C at 402: in LIS3, MIM: 611603</li><li>R->H at 402: in LIS3, MIM: 611603</li><li>S->L at 419: in LIS3, MIM: 611603</li><li>E->K at 447: in dbSNP:rs1065730, MIM: 611603</li>								Lissencephaly type 3 (LIS3) [MIM:611603]	rs1065730	2
Q75LS8			<li>V->G at 125: in dbSNP:rs11524166</li>									rs11524166	2
Q75N90	84467		<li>G->A at 119: in dbSNP:rs3813773</li><li>R->Q at 473: in dbSNP rsrs35277492</li><li>N->D at 662: in dbSNP:rs4804271</li><li>R->L at 935</li><li>V->F at 938</li><li>R->W at 1083: in dbSNP rsrs35579498</li><li>S->N at 1293: in dbSNP:rs4804063</li><li>V->I at 1326: in dbSNP rsrs12975322</li><li>S->G at 1614: in dbSNP rsrs33967815</li><li>R->Q at 1806: in dbSNP:rs3829817</li><li>N->K at 1869: in dbSNP:rs12150963</li><li>L->P at 1904: in dbSNP:rs12608849</li><li>P->H at 1958: in dbSNP:rs7245429</li><li>D->E at 2610: in dbSNP:rs7257948</li>									<li>rs7257948</li><li>rs7245429</li><li>rs33967815</li><li>rs35579498</li><li>rs35277492</li><li>rs12608849</li><li>rs4804271</li><li>rs12150963</li><li>rs3829817</li><li>rs12975322</li><li>rs4804063</li><li>rs3813773</li>	2
Q75V66	203859		<li>L->F at 322: in dbSNP:rs7481951</li><li>C->G at 356: in GDD; decreases cell adhesion and changes cell morphology to a round shape, MIM: 166260</li><li>C->R at 356: in GDD; decreases cell adhesion and changes cell morphology to a round shape, MIM: 166260</li><li>N->K at 882: in dbSNP:rs34969327, MIM: 166260</li>	cell adhesion	GO:0007155						Gnathodiaphyseal dysplasia (GDD) [MIM:166260]	<li>rs7481951</li><li>rs34969327</li>	2
Q75WM6	341567		<li>R->G at 84: in a Japanese man; dbSNP:rs2732441</li><li>L->P at 108: in a Japanese man</li><li>R->S at 136: in a Japanese man</li><li>R->Q at 174: in a Japanese man; dbSNP:rs1471997</li><li>R->Q at 195: in dbSNP:rs1471997</li><li>S->F at 237: in a Japanese man; dbSNP:rs2291483</li>									<li>rs2291483</li><li>rs2732441</li><li>rs1471997</li>	2
Q765I0	257313		<li>S->I at 21: in dbSNP:rs6788319</li>									rs6788319	2
Q76EJ3	11046		<li>A->S at 184: in dbSNP:rs1051763</li>									rs1051763	2
Q76FK4	55035		<li>V->L at 748: in dbSNP:rs2236344</li><li>D->E at 841: in dbSNP:rs15717</li><li>E->D at 988: in dbSNP:rs34224798</li><li>G->S at 1021: in dbSNP:rs921122</li>									<li>rs34224798</li><li>rs921122</li><li>rs15717</li><li>rs2236344</li>	2
Q76G19	57595		<li>R->C at 39: in a breast cancer sample; somatic mutation</li>										2
Q76L83	55252		<li>L->P at 731: in dbSNP:rs13385963</li><li>A->V at 796: in dbSNP:rs17854251</li><li>T->P at 1210: in dbSNP:rs12991178</li><li>T->P at 1242: in dbSNP:rs12990978</li>									<li>rs17854251</li><li>rs12991178</li><li>rs13385963</li><li>rs12990978</li>	2
Q76N32	23177		<li>R->G at 27: in dbSNP:rs12611491</li><li>G->S at 74: in dbSNP:rs7572857</li><li>L->P at 397: in dbSNP:rs35501092</li><li>R->C at 462: in dbSNP:rs35694840</li><li>E->Q at 473: in dbSNP:rs35089924</li>									<li>rs35501092</li><li>rs35694840</li><li>rs12611491</li><li>rs7572857</li><li>rs35089924</li>	2
Q76NI1	85442		<li>E->G at 436: in dbSNP:rs3810964</li><li>G->S at 581: in dbSNP:rs35152544</li><li>L->P at 717: in dbSNP:rs2998139</li><li>A->T at 1332: in dbSNP:rs11101642</li>									<li>rs35152544</li><li>rs3810964</li><li>rs11101642</li><li>rs2998139</li>	2
Q7KYR7	11120		<li>R->C at 124: in dbSNP:rs3734539</li><li>V->M at 207: in dbSNP:rs13195509</li><li>R->Q at 378: in dbSNP:rs3734542</li><li>G->A at 451: in dbSNP:rs3734543</li>									<li>rs13195509</li><li>rs3734543</li><li>rs3734542</li><li>rs3734539</li>	2
Q7KZN9	1355		<li>R->W at 217: in COX deficiency and Leigh syndrome: in dbSNP rsrs28939711, MIM: 256000</li><li>S->P at 344: in Leigh syndrome, MIM: 256000</li>							<li>P36552</li><li>P36551</li><li>Q9UTE2</li><li>Q9V3D2</li><li>P11353</li>	<li>Leigh syndrome [MIM:256000]</li><li>Cytochrome c oxidase deficiency (COX deficiency) [MIM:220110]</li>	rs28939711	2
Q7L014	9879		<li>E->Q at 207: in dbSNP:rs10447293</li>									rs10447293	2
Q7L0X0	9865		<li>S->N at 240: in dbSNP:rs740250</li><li>A->T at 347: in dbSNP:rs3735561</li><li>G->D at 369: in dbSNP:rs3735562</li>									<li>rs740250</li><li>rs3735561</li><li>rs3735562</li>	2
Q7L0X2	131831		<li>G->V at 9: in dbSNP:rs16862795</li><li>G->R at 433: in dbSNP:rs11919896</li>									<li>rs11919896</li><li>rs16862795</li>	2
Q7L1T6	51167		<li>R->H at 140</li><li>Q->R at 187</li><li>H->R at 223</li><li>P->A at 267: in dbSNP rsrs61382555</li><li>S->P at 282: in dbSNP:rs10080628</li><li>P->S at 316: in dbSNP:rs10080628</li><li>D->Y at 371: in a breast cancer sample; somatic mutation</li><li>L->M at 390: in a breast cancer sample; somatic mutation</li>									<li>rs61382555</li><li>rs10080628</li>	2
Q7L1W4	55144		<li>S->Y at 371: in dbSNP:rs11552246</li>									rs11552246	2
Q7L2K0	80178		<li>R->K at 346: in dbSNP:rs34948268</li>									rs34948268	2
Q7L2R6	91661		<li>S->G at 389: in dbSNP:rs10425136</li>									rs10425136	2
Q7L2Z9	55166		<li>G->R at 63: in dbSNP:rs4267943</li><li>D->G at 266: in dbSNP:rs2501968</li>									<li>rs4267943</li><li>rs2501968</li>	2
Q7L3B6	55664		<li>S->F at 291: in dbSNP:rs7036014</li>									rs7036014	2
Q7L3S4	51333		<li>D->N at 207: in dbSNP:rs17852362</li>									rs17852362	2
Q7L3T8	25973		<li>R->S at 28: in dbSNP:rs11577368</li><li>N->S at 235: in dbSNP:rs2270004</li>									<li>rs2270004</li><li>rs11577368</li>	2
Q7L3V2	79680		<li>R->H at 116: in dbSNP:rs17745302</li><li>D->Y at 123: in dbSNP:rs34027839</li>									<li>rs34027839</li><li>rs17745302</li>	2
Q7L4E1	84895		<li>E->K at 78: in dbSNP:rs6478859</li><li>V->A at 100: in dbSNP:rs16930845</li><li>G->S at 212: in dbSNP:rs17452596</li>									<li>rs17452596</li><li>rs16930845</li><li>rs6478859</li>	2
Q7L4I2	65117		<li>H->R at 88: in dbSNP:rs17886684</li>									rs17886684	2
Q7L513	84824		<li>R->Q at 349: in dbSNP:rs11746</li>									rs11746	2
Q7L576	23191		<li>A->P at 532: in dbSNP:rs34683919</li><li>G->D at 820: in dbSNP:rs17137190</li><li>G->S at 820: in dbSNP:rs7170637</li>									<li>rs7170637</li><li>rs17137190</li><li>rs34683919</li>	2
Q7L590	55388		<li>K->R at 134: in dbSNP:rs17152897</li><li>A->P at 195: in dbSNP:rs34630110</li><li>A->V at 418: in dbSNP:rs35114749</li><li>T->S at 541: in dbSNP:rs7905784</li><li>K->R at 669: in dbSNP:rs2274110</li>									<li>rs17152897</li><li>rs35114749</li><li>rs7905784</li><li>rs34630110</li><li>rs2274110</li>	2
Q7L592	55471		<li>P->A at 39: in dbSNP:rs2714473</li>									rs2714473	2
Q7L5A8	79152		<li>D->Y at 35: in dysmyelinating leukodystrophy with spastic paraparesis</li><li>P->A at 97: in dbSNP:rs35874850</li>									rs35874850	2
Q7L5N7	54947		<li>M->I at 163: in dbSNP:rs837550</li>									rs837550	2
Q7L5Y1	55556		<li>D->E at 31: in dbSNP:rs34724061</li><li>M->T at 145: in dbSNP:rs2612086</li><li>Y->S at 428: in dbSNP:rs2847620</li>									<li>rs2612086</li><li>rs34724061</li><li>rs2847620</li>	2
Q7L5Y9	10296		<li>R->C at 34: in dbSNP:rs34082974</li>									rs34082974	2
Q7L775	9852		<li>V->F at 333: in dbSNP:rs4647202</li><li>A->S at 360: in dbSNP:rs4647201</li>									<li>rs4647202</li><li>rs4647201</li>	2
Q7L7V1	55760		<li>P->R at 209: in a breast cancer sample; somatic mutation</li><li>E->D at 271: in dbSNP:rs11244674</li><li>D->A at 301: in dbSNP:rs35772239</li><li>V->L at 430: in dbSNP:rs17153669</li>									<li>rs17153669</li><li>rs35772239</li><li>rs11244674</li>	2
Q7L7X3	57551		<li>A->T at 855: in dbSNP:rs34151057</li>									rs34151057	2
Q7L8L6	60493		<li>R->C at 256: in dbSNP:rs3746700</li><li>I->T at 288: in dbSNP:rs2422857</li><li>I->V at 377: in dbSNP:rs3746699</li>									<li>rs3746700</li><li>rs3746699</li><li>rs2422857</li>	2
Q7L8W6	89978		<li>G->E at 41: in dbSNP:rs34907758</li><li>R->P at 236: in dbSNP:rs10519996</li>									<li>rs10519996</li><li>rs34907758</li>	2
Q7L985	158038		<li>R->H at 507: in dbSNP:rs17506843</li>									rs17506843	2
Q7LBC6	51780		<li>T->A at 256: in dbSNP:rs6865472</li><li>S->N at 1201: in dbSNP:rs7706614</li>									<li>rs6865472</li><li>rs7706614</li>	2
Q7LBE3	115019		<li>V->M at 744: in dbSNP:rs3811428</li><li>H->R at 748: in dbSNP:rs16856462</li>									<li>rs3811428</li><li>rs16856462</li>	2
Q7LDG7	10235		<li>G->A at 493: in dbSNP:rs2301562</li>									rs2301562	2
Q7LG56	50484		<li>W->R at 64: in EMDSRT, MIM: 612075</li><li>Missing  at 85: in EMDSRT, MIM: 612075</li><li>V->L at 115: in colorectal adenocarcinomas cell line; loss of ribonucleotide reductase activity, MIM: 612075</li><li>E->G at 194: in EMDSRT, MIM: 612075</li><li>E->K at 194: in EMDSRT, MIM: 612075</li><li>I->S at 224: in EMDSRT; without tubulopathy, MIM: 612075</li><li>C->F at 236: in EMDSRT, MIM: 612075</li><li>M->I at 282: in EMDSRT; without tubulopathy, MIM: 612075</li><li>L->V at 317: in EMDSRT; without tubulopathy, MIM: 612075</li>							<li>P57276</li><li>P32984</li><li>Q9Z6S5</li><li>Q89AS4</li><li>P08543</li><li>Q7T6Y8</li><li>P42491</li><li>P32282</li><li>P09248</li><li>O83972</li><li>O84834</li><li>Q01037</li><li>P43754</li><li>P78027</li><li>P36602</li><li>P74240</li><li>P28846</li><li>P47473</li><li>P03190</li><li>P16782</li><li>P55982</li><li>P50620</li><li>P50646</li><li>P50643</li><li>Q9PL93</li><li>Q8SR37</li><li>P50641</li><li>P20503</li><li>P50642</li><li>P52343</li><li>Q8K9W3</li><li>Q76RD8</li><li>P11156</li><li>P26685</li><li>O66503</li><li>Q9ZLF9</li><li>P12848</li><li>P09853</li>	Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT) [MIM:612075]		2
Q7LGC8	9469		<li>R->W at 222: in SED Omani type; severely impairs or abolishes the enzyme function, MIM: 608637</li><li>L->P at 259: in SED Omani type; severely impairs or abolishes the enzyme function, MIM: 608637</li><li>R->Q at 304: in SED Omani type; reduced enzyme activity; dbSNP:rs28937593, MIM: 608637</li><li>L->P at 307: in HSD, MIM: 143095</li><li>I->M at 348: in dbSNP:rs3740128, MIM: 143095</li><li>R->Q at 357: in dbSNP:rs3740129, MIM: 143095</li><li>E->K at 372: in SED Omani type, MIM: 608637</li>							P20723	<li>Humerospinal dysostosis (HSD) [MIM:143095]</li><li>Spondyloepiphyseal dysplasia Omani type (SED Omani type) [MIM:608637]</li>	<li>rs28937593</li><li>rs3740129</li><li>rs3740128</li>	2
Q7RTM1	133060		<li>I->V at 241: in dbSNP:rs28394859</li><li>D->E at 309: in dbSNP:rs2916414</li><li>V->M at 434: in dbSNP:rs11736799</li><li>K->T at 493: in dbSNP:rs34666677</li><li>Q->H at 516: in dbSNP:rs35106142</li>									<li>rs34666677</li><li>rs2916414</li><li>rs28394859</li><li>rs11736799</li><li>rs35106142</li>	2
Q7RTP0	123606		<li>T->R at 45: in SPG6, MIM: 600363</li><li>G->R at 106: in SPG6, MIM: 600363</li>								Spastic paraplegia autosomal dominant type 6 (SPG6) [MIM:600363]		2
Q7RTP6	57553		<li>M->L at 778: in dbSNP:rs5992128</li>									rs5992128	2
Q7RTR0	338321		<li>G->D at 425: in a breast cancer sample; somatic mutation</li>										2
Q7RTR2	197358		<li>V->M at 567: in dbSNP:rs8057436</li>									rs8057436	2
Q7RTR8	353164		<li>F->S at 196: in dbSNP:rs5020531</li><li>Y->C at 265: in dbSNP:rs1451772</li>									<li>rs5020531</li><li>rs1451772</li>	2
Q7RTS3	256297		<li>S->P at 263: in dbSNP:rs7918487</li>									rs7918487	2
Q7RTS5	347741		<li>R->Q at 64: in dbSNP:rs7210616</li><li>R->Q at 146: in dbSNP:rs9890664</li><li>S->P at 199: in dbSNP:rs1542752</li>									<li>rs9890664</li><li>rs7210616</li><li>rs1542752</li>	2
Q7RTS6	92736		<li>A->V at 392: in a colorectal cancer sample; somatic mutation</li><li>G->W at 465: in dbSNP:rs6501741</li>									rs6501741	2
Q7RTS7	121391		<li>N->K at 165: in dbSNP:rs11170177</li><li>L->Q at 178: in dbSNP:rs11170176</li><li>E->D at 271: in dbSNP:rs670741</li>									<li>rs670741</li><li>rs11170176</li><li>rs11170177</li>	2
Q7RTS9	54808	<ul><li>G->A at 2: Does not affect protein localization to Golgi apparatus. Prevents myristoylation in vitro</li></ul>	<li>E->K at 87: in SMC; does not affect protein localization, MIM: 607326</li><li>N->Y at 469: in DMC; results in protein mis-localization and aggregation, MIM: 223800</li>	<li>protein localization</li><li>localization</li>	<li>GO:0008104</li><li>GO:0051179</li>			Golgi apparatus	GO:0005794		<li>Smith-McCort dysplasia (SMC) [MIM:607326]</li><li>Dyggve-Melchior-Clausen syndrome (DMC) [MIM:223800]</li>		3
Q7RTT3	280660		<li>C->R at 72: in dbSNP:rs4598385</li>									rs4598385	2
Q7RTT5	280658		<li>L->S at 43: in dbSNP:rs3122210</li>									rs3122210	2
Q7RTT6	280657		<li>R->C at 90: in dbSNP:rs5952474</li><li>K->Q at 138: in dbSNP:rs17327911</li>									<li>rs5952474</li><li>rs17327911</li>	2
Q7RTU1	150921		<li>R->Q at 25: in dbSNP:rs11126879</li><li>T->S at 40: in dbSNP:rs4502371</li>									<li>rs11126879</li><li>rs4502371</li>	2
Q7RTU9	161497		<li>L->F at 1640: in dbSNP:rs2920791</li>									rs2920791	2
Q7RTV2	221357		<li>V->I at 55: in dbSNP:rs2397118</li>									rs2397118	2
Q7RTV5	195827		<li>R->K at 83: in dbSNP:rs9886834</li>									rs9886834	2
Q7RTX1	80835		<li>K->E at 347: in dbSNP:rs10864628</li><li>A->T at 372: in dbSNP:rs34160967</li><li>R->Q at 507: in dbSNP:rs35118458</li>									<li>rs35118458</li><li>rs10864628</li><li>rs34160967</li>	2
Q7RTX7	378807		<li>Q->R at 77: in dbSNP:rs11247866</li><li>L->F at 124: in dbSNP:rs12138368</li><li>I->V at 293: in dbSNP:rs17257155</li><li>D->N at 436: in dbSNP:rs6657616</li>									<li>rs6657616</li><li>rs12138368</li><li>rs17257155</li><li>rs11247866</li>	2
Q7RTY1	220963		<li>T->K at 258: in dbSNP:rs2242206</li><li>D->E at 461: in dbSNP:rs11006655</li>									<li>rs2242206</li><li>rs11006655</li>	2
Q7RTY5	345062		<li>C->Y at 65: in dbSNP:rs36097019</li><li>L->S at 130: in dbSNP:rs17027505</li><li>R->C at 298: in dbSNP:rs13126069</li>									<li>rs36097019</li><li>rs13126069</li><li>rs17027505</li>	2
Q7RTY7	341350		<li>R->C at 133: in dbSNP:rs10843438</li><li>W->G at 228: in dbSNP:rs967181</li><li>K->E at 330: in dbSNP:rs3847680</li><li>I->T at 444: in dbSNP:rs7975356</li><li>S->F at 672: in dbSNP:rs11050243</li><li>G->R at 754: in dbSNP:rs12305672</li><li>P->A at 881: in dbSNP:rs1347570</li><li>P->S at 934: in dbSNP:rs7967676</li>									<li>rs7975356</li><li>rs12305672</li><li>rs967181</li><li>rs10843438</li><li>rs7967676</li><li>rs1347570</li><li>rs11050243</li><li>rs3847680</li>	2
Q7RTZ1			<li>R->Q at 19: in dbSNP:rs7927138</li><li>P->S at 292: in dbSNP:rs10839849</li><li>G->E at 381: in dbSNP:rs3925028</li><li>N->T at 410: in dbSNP:rs4528317</li><li>R->G at 413: in dbSNP:rs3925027</li><li>H->Q at 526: in dbSNP:rs4519083</li><li>T->I at 539: in dbSNP:rs4633461</li>									<li>rs3925028</li><li>rs4633461</li><li>rs4519083</li><li>rs3925027</li><li>rs7927138</li><li>rs10839849</li><li>rs4528317</li>	2
Q7Z2G1	158983		<li>R->W at 87: in dbSNP:rs17332043</li><li>R->H at 123: in dbSNP:rs553509</li>									<li>rs17332043</li><li>rs553509</li>	2
Q7Z2H8	206358		<li>F->L at 362: in dbSNP:rs9687945</li>									rs9687945	2
Q7Z2K6	79956		<li>S->N at 44: in dbSNP:rs13284203</li>									rs13284203	2
Q7Z2W4	56829		<li>R->K at 485: in dbSNP:rs2236426</li><li>H->Q at 565: in dbSNP:rs2297241</li><li>Q->E at 701: in dbSNP:rs2297236</li><li>T->I at 851: in dbSNP:rs3735007</li>									<li>rs2236426</li><li>rs2297236</li><li>rs2297241</li><li>rs3735007</li>	2
Q7Z2W7	79054		<li>R->T at 247: in dbSNP:rs13004520</li><li>Y->C at 251: in dbSNP:rs17868387</li><li>M->T at 462: in dbSNP:rs28902173</li><li>T->I at 732: in dbSNP:rs17862932</li><li>N->S at 821: in dbSNP:rs28902201</li>									<li>rs17862932</li><li>rs28902201</li><li>rs17868387</li><li>rs28902173</li><li>rs13004520</li>	2
Q7Z2X4	55022		<li>T->THFQTMLKSKLN at 43: in variant with duplicated exon 2</li>										2
Q7Z2X7	203569		<li>L->V at 5: in dbSNP:rs1845444</li>									rs1845444	2
Q7Z2Y5	203447		<li>Q->H at 355: in dbSNP rsrs55862725</li><li>V->M at 358: in dbSNP:rs209373</li><li>S->C at 424: in a breast infiltrating ductal carcinoma sample; somatic mutation</li><li>P->A at 426: in dbSNP rsrs55635933</li><li>E->G at 579: in dbSNP rsrs56350428</li><li>E->G at 679: in dbSNP rsrs35115195</li><li>R->H at 727: in dbSNP:rs33936206</li><li>I->L at 880: in a colorectal adenocarcinoma sample; somatic mutation</li><li>D->G at 971: in dbSNP:rs35334892</li><li>A->E at 993: in dbSNP:rs16984889</li><li>P->S at 1106: in dbSNP rsrs35393519</li><li>A->P at 1121: in dbSNP:rs35720774</li><li>H->L at 1276: in dbSNP rsrs35942881</li><li>G->A at 1471</li><li>M->L at 1472</li>									<li>rs35942881</li><li>rs209373</li><li>rs55862725</li><li>rs16984889</li><li>rs35393519</li><li>rs35115195</li><li>rs33936206</li><li>rs56350428</li><li>rs35334892</li><li>rs55635933</li><li>rs35720774</li>	2
Q7Z2Z1	90381		<li>R->C at 287: in dbSNP:rs10775247</li><li>R->W at 402: in dbSNP:rs11629584</li><li>R->C at 628: in dbSNP:rs3743372</li><li>V->A at 747: in dbSNP:rs12905387</li><li>S->C at 923: in dbSNP:rs16943377</li><li>R->C at 1523: in dbSNP:rs894157</li><li>S->T at 1718: in dbSNP:rs1866928</li><li>R->C at 1885: in dbSNP:rs3743372</li>									<li>rs12905387</li><li>rs894157</li><li>rs10775247</li><li>rs16943377</li><li>rs11629584</li><li>rs1866928</li><li>rs3743372</li>	2
Q7Z2Z2	79631		<li>E->D at 478: in dbSNP:rs2292189</li><li>I->V at 617: in dbSNP:rs1128431</li><li>K->R at 711: in dbSNP:rs2292071</li>									<li>rs1128431</li><li>rs2292071</li><li>rs2292189</li>	2
Q7Z304	256691		<li>N->S at 294: in dbSNP:rs1998972</li>									rs1998972	2
Q7Z333	23064		<li>T->I at 3: in ALS4; heterozygous: in dbSNP rsrs28941475, MIM: 602433</li><li>M->I at 274: in SCAR1, MIM: 606002</li><li>W->C at 305: in SCAR1, MIM: 606002</li><li>R->W at 332: in SCAR1: in dbSNP rsrs29001665, MIM: 606002</li><li>L->S at 389: in ALS4: in dbSNP rsrs29001584, MIM: 602433</li><li>P->L at 413: in SCAR1, MIM: 606002</li><li>N->D at 603: in SCAR1; atypical; associated with K-653, MIM: 606002</li><li>Q->K at 653: in SCAR1; atypical; associated with D-603, MIM: 606002</li><li>A->G at 660: in dbSNP:rs882709, MIM: 606002</li><li>P->L at 1061: in dbSNP:rs12352982, MIM: 606002</li><li>F->C at 1152: in dbSNP:rs3739922, MIM: 606002</li><li>E->D at 1192: in dbSNP:rs1185193, MIM: 606002</li><li>R->G at 1252: in dbSNP:rs1183768, MIM: 606002</li><li>R->C at 1294: in SCAR1, MIM: 606002</li><li>P->L at 1331: in dbSNP:rs11243731, MIM: 606002</li><li>V->I at 1386: in dbSNP:rs543573, MIM: 606002</li><li>F->S at 1756: in SCAR1; heterozygous in a British family, MIM: 606002</li><li>T->A at 1855: in dbSNP:rs2296871, MIM: 606002</li><li>R->H at 2136: in ALS4, MIM: 602433</li><li>P->L at 2213: in SCAR1: in dbSNP rsrs28940290, MIM: 606002</li><li>P->R at 2368: in SCAR1, MIM: 606002</li><li>I->V at 2587: in dbSNP:rs1056899, MIM: 606002</li><li>S->G at 2612: in dbSNP:rs3739927, MIM: 606002</li>							<li>Q92558</li><li>Q6AWX6</li><li>O74660</li><li>Q7Z333</li>	<li>Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]</li><li>Amyotrophic lateral sclerosis type 4 (ALS4) [MIM:602433]</li>	<li>rs882709</li><li>rs11243731</li><li>rs1183768</li><li>rs543573</li><li>rs29001584</li><li>rs3739927</li><li>rs28941475</li><li>rs2296871</li><li>rs29001665</li><li>rs12352982</li><li>rs1185193</li><li>rs3739922</li><li>rs28940290</li><li>rs1056899</li>	2
Q7Z340	90233		<li>N->S at 218: in dbSNP:rs10413864</li><li>R->W at 550: in dbSNP:rs12611105</li>									<li>rs10413864</li><li>rs12611105</li>	2
Q7Z353	139324		<li>A->T at 193: in dbSNP:rs35653454</li><li>F->S at 397: in dbSNP:rs35161124</li>									<li>rs35653454</li><li>rs35161124</li>	2
Q7Z398			<li>I->T at 359: in dbSNP:rs1548476</li>									rs1548476	2
Q7Z3B0	643155		<li>L->F at 23: in dbSNP:rs4546328</li>									rs4546328	2
Q7Z3B3	284058		<li>K->T at 104: in dbSNP:rs17585974</li><li>T->I at 221: in dbSNP:rs17662853</li><li>N->D at 225: in dbSNP:rs35643216</li><li>S->P at 718: in dbSNP:rs34043286</li><li>P->L at 1010: in dbSNP:rs7220988</li><li>I->T at 1085: in dbSNP:rs34579536</li>									<li>rs7220988</li><li>rs35643216</li><li>rs34579536</li><li>rs17585974</li><li>rs34043286</li><li>rs17662853</li>	2
Q7Z3C6	79065		<li>S->G at 592: in dbSNP:rs2276635</li>									rs2276635	2
Q7Z3D6	80017		<li>R->C at 10: in dbSNP:rs10142502</li><li>S->N at 237: in dbSNP:rs34302825</li><li>A->T at 372: in dbSNP:rs12895348</li><li>D->N at 502: in dbSNP:rs2295524</li><li>D->N at 507: in dbSNP:rs34523602</li><li>G->D at 583: in dbSNP:rs34748911</li>									<li>rs12895348</li><li>rs2295524</li><li>rs34302825</li><li>rs34523602</li><li>rs34748911</li><li>rs10142502</li>	2
Q7Z3E1	25976		<li>R->S at 406: in dbSNP:rs17854621</li>									rs17854621	2
Q7Z3E2	55088		<li>T->I at 85: in dbSNP:rs1061159</li><li>R->Q at 179: in dbSNP:rs12782946</li><li>Q->K at 271: in dbSNP:rs7095762</li>									<li>rs1061159</li><li>rs12782946</li><li>rs7095762</li>	2
Q7Z3E5	80210		<li>L->F at 108: in dbSNP:rs11558175</li><li>I->T at 209: in dbSNP:rs16827883</li><li>R->H at 222: in dbSNP:rs3752780</li>									<li>rs11558175</li><li>rs16827883</li><li>rs3752780</li>	2
Q7Z3H4	344658		<li>E->D at 220: in dbSNP:rs10513680</li>									rs10513680	2
Q7Z3I7	137209		<li>K->T at 317: in dbSNP:rs10104558</li><li>G->E at 380: in dbSNP:rs10105106</li><li>S->C at 448: in dbSNP:rs10107774</li><li>V->I at 500: in dbSNP:rs7825375</li><li>C->F at 512: in a colorectal cancer sample; somatic mutation</li>									<li>rs10105106</li><li>rs10104558</li><li>rs7825375</li><li>rs10107774</li>	2
Q7Z3J2	57020		<li>Y->C at 32: in dbSNP:rs17854969</li><li>N->I at 186: in dbSNP:rs7206637</li><li>A->V at 506: in dbSNP:rs17854970</li>									<li>rs7206637</li><li>rs17854970</li><li>rs17854969</li>	2
Q7Z3K3	23126		<li>E->D at 1365: in dbSNP:rs35198305</li>									rs35198305	2
Q7Z3K6	166968		<li>D->G at 126: in dbSNP:rs17854108</li><li>N->K at 414: in dbSNP:rs13177917</li><li>N->D at 432: in dbSNP:rs13181823</li><li>N->S at 530: in dbSNP:rs36017815</li>									<li>rs36017815</li><li>rs13181823</li><li>rs13177917</li><li>rs17854108</li>	2
Q7Z3S7	93589		<li>V->I at 327: in dbSNP:rs10735005</li><li>R->H at 863: in dbSNP:rs36077411</li><li>T->M at 869: in dbSNP:rs35331095</li>									<li>rs36077411</li><li>rs10735005</li><li>rs35331095</li>	2
Q7Z3S9	388677		<li>S->P at 67: in dbSNP:rs10910779</li><li>T->I at 158: in dbSNP:rs8002</li><li>T->S at 196: in dbSNP:rs4649852</li><li>E->Q at 226: in dbSNP:rs1053710</li>									<li>rs10910779</li><li>rs1053710</li><li>rs4649852</li><li>rs8002</li>	2
Q7Z3T1	343171		<li>C->S at 169: in dbSNP:rs12083024</li><li>R->C at 179: in dbSNP:rs10888267</li><li>V->I at 190: in dbSNP:rs12135078</li><li>E->D at 196: in dbSNP:rs12139390</li><li>M->K at 272: in dbSNP:rs11204545</li><li>M->T at 275: in dbSNP:rs11204546</li>									<li>rs12139390</li><li>rs10888267</li><li>rs12135078</li><li>rs11204545</li><li>rs12083024</li><li>rs11204546</li>	2
Q7Z3U7	23041		<li>A->T at 548: in dbSNP:rs10219555</li>									rs10219555	2
Q7Z3V4	89910		<li>Q->R at 346: in dbSNP:rs7298565</li>									rs7298565	2
Q7Z3V5	51276		<li>K->M at 170: in dbSNP:rs16973893</li><li>Q->H at 189: in dbSNP:rs8111790</li><li>E->D at 252: in dbSNP:rs28512414</li><li>L->H at 573: in dbSNP:rs4802029</li><li>K->E at 593: in dbSNP:rs16973890</li>									<li>rs28512414</li><li>rs4802029</li><li>rs16973890</li><li>rs16973893</li><li>rs8111790</li>	2
Q7Z3Z0	147183		<li>S->L at 54: in dbSNP:rs12951399</li>									rs12951399	2
Q7Z3Z2	343035		<li>W->R at 6: in an individual with an atypical late-onset form of retinitis pigmentosa; dbSNP:rs35649846</li><li>E->D at 23: in an individual with an atypical late-onset form of retinitis pigmentosa; dbSNP:rs34422496</li><li>G->R at 35</li><li>R->C at 47: in dbSNP:rs34049451</li><li>G->V at 57: in an individual with cone-rod degeneration</li><li>R->W at 68</li><li>K->M at 130: in an individual with cone-rod dystrophy features</li><li>R->K at 167</li><li>D->V at 195</li>									<li>rs35649846</li><li>rs34049451</li><li>rs34422496</li>	2
Q7Z3Z3	440822		<li>P->S at 375: in dbSNP:rs1475853</li><li>C->R at 412: in dbSNP:rs1892722</li><li>V->M at 418: in dbSNP:rs1892723</li><li>V->I at 471: in dbSNP:rs11703684</li>									<li>rs1475853</li><li>rs1892722</li><li>rs1892723</li><li>rs11703684</li>	2
Q7Z3Z4	143689		<li>Q->R at 78: in dbSNP:rs12276921</li><li>Q->L at 327: in dbSNP:rs11020845</li>									<li>rs11020845</li><li>rs12276921</li>	2
Q7Z401	10260		<li>L->P at 284: in dbSNP:rs17854146</li>									rs17854146	2
Q7Z402	79905		<li>R->W at 59: in dbSNP:rs17854512</li><li>G->E at 254: in dbSNP:rs28583298</li><li>T->I at 635: in dbSNP:rs11864159</li>									<li>rs28583298</li><li>rs11864159</li><li>rs17854512</li>	2
Q7Z403	11322		<li>W->R at 125: in dbSNP:rs2748427</li><li>L->F at 153: in dbSNP:rs12449858</li>									<li>rs12449858</li><li>rs2748427</li>	2
Q7Z404	147798		<li>E->G at 17: in dbSNP:rs641738</li><li>Q->E at 683: in dbSNP:rs36657</li>									<li>rs641738</li><li>rs36657</li>	2
Q7Z406	79784		<li>S->L at 120: in DFNA4, MIM: 600652</li><li>I->V at 266, MIM: 600652</li><li>G->C at 376: in DFNA4, MIM: 600652</li><li>R->S at 726: in DFNA4: in dbSNP rsrs28940307, MIM: 600652</li><li>L->F at 976: in DFNA4: in dbSNP rsrs28940306, MIM: 600652</li><li>N->S at 1559, MIM: 600652</li>								Non-syndromic sensorineural deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	<li>rs28940306</li><li>rs28940307</li>	2
Q7Z407	114788		<li>I->M at 182: in dbSNP:rs2219898</li><li>W->G at 285: in a colorectal cancer sample; somatic mutation</li><li>V->L at 2963: in dbSNP:rs2193430</li><li>R->H at 3042: in a colorectal cancer sample; somatic mutation</li><li>R->Q at 3322: in a colorectal cancer sample; somatic mutation</li><li>N->H at 3584: in dbSNP:rs1592624</li>									<li>rs2219898</li><li>rs1592624</li><li>rs2193430</li>	2
Q7Z408	114784		<li>L->P at 167: in dbSNP:rs16836099</li><li>H->R at 538: in dbSNP:rs474474</li><li>R->K at 2096: in dbSNP:rs1874045</li><li>A->V at 2117: in dbSNP:rs11588581</li><li>M->V at 2554: in dbSNP:rs2641962</li><li>L->R at 2661: in dbSNP:rs3820206</li><li>L->V at 2661: in dbSNP:rs34850622</li><li>S->F at 3406: in dbSNP:rs1617468</li>									<li>rs2641962</li><li>rs474474</li><li>rs3820206</li><li>rs1874045</li><li>rs1617468</li><li>rs11588581</li><li>rs16836099</li><li>rs34850622</li>	2
Q7Z410	360200		<li>T->A at 4: in dbSNP:rs8100709</li><li>S->T at 30: in dbSNP:rs891174</li><li>R->W at 73: in dbSNP:rs17685098</li><li>A->T at 456: in dbSNP:rs10153474</li><li>S->N at 793: in dbSNP:rs735911</li><li>E->K at 938: in dbSNP:rs7247162</li>									<li>rs10153474</li><li>rs735911</li><li>rs7247162</li><li>rs891174</li><li>rs8100709</li><li>rs17685098</li>	2
Q7Z412	55670		<li>L->P at 45: in IRD, MIM: 266510</li><li>G->R at 89: in ZWS: in dbSNP rsrs28940308, MIM: 214100</li><li>R->W at 98: in NALD; affects the interaction with PEX6, MIM: 202370</li><li>L->V at 153: in dbSNP:rs12484657, MIM: 202370</li>							<li>P36966</li><li>Q6BS73</li><li>Q9UVU5</li><li>P33289</li><li>Q9C1E9</li><li>Q74Z13</li><li>Q13608</li><li>P33760</li><li>Q6FW67</li><li>Q6CPV1</li>	<li>Infantile Refsum disease (IRD) [MIM:266510]</li><li>Adrenoleukodystrophy neonatal (NALD) [MIM:202370]</li><li>Zellweger syndrome (ZWS) [MIM:214100]</li>	<li>rs28940308</li><li>rs12484657</li>	2
Q7Z418	338567		<li>F->Y at 58: in dbSNP:rs3909165</li><li>A->G at 198: in dbSNP:rs363359</li><li>S->P at 231: in dbSNP:rs363315</li><li>A->V at 233: in dbSNP:rs363360</li><li>E->K at 255: in dbSNP:rs3026042</li><li>V->I at 346: in dbSNP:rs12247136</li>									<li>rs363315</li><li>rs3026042</li><li>rs12247136</li><li>rs363359</li><li>rs363360</li><li>rs3909165</li>	2
Q7Z429	2907		<li>S->N at 107: in dbSNP:rs17854152</li>									rs17854152	2
Q7Z442	114780		<li>V->A at 20: in dbSNP:rs9924530</li><li>W->R at 73: in dbSNP:rs9924371</li><li>N->K at 77: in dbSNP:rs9934272</li><li>Q->L at 120: in dbSNP:rs7191351</li><li>G->D at 129: in dbSNP:rs7185774</li><li>V->I at 156: in dbSNP:rs35528333</li><li>C->S at 162: in dbSNP:rs35970134</li><li>V->M at 169: in dbSNP:rs36099350</li><li>L->S at 173: in dbSNP:rs8060294</li><li>V->I at 183: in dbSNP:rs12933806</li><li>G->R at 205: in dbSNP:rs34719852</li><li>E->G at 221: in dbSNP:rs6564838</li><li>R->W at 252: in dbSNP:rs6420424</li><li>P->A at 301: in dbSNP:rs11150370</li><li>N->S at 407: in dbSNP:rs9937169</li><li>K->Q at 416: in dbSNP:rs7194871</li><li>L->V at 462: in dbSNP:rs9934856</li><li>P->L at 512: in dbSNP:rs7205673</li><li>R->H at 636: in dbSNP:rs13339342</li><li>P->L at 711: in dbSNP:rs4889261</li><li>G->C at 785: in dbSNP:rs9935113</li><li>R->H at 849: in dbSNP:rs1869349</li><li>A->V at 863: in dbSNP:rs12596941</li><li>L->M at 919: in dbSNP:rs745211</li><li>L->P at 1036: in dbSNP:rs12597040</li><li>M->V at 1042: in dbSNP:rs12931227</li>									<li>rs9934272</li><li>rs13339342</li><li>rs9924371</li><li>rs7205673</li><li>rs6564838</li><li>rs12597040</li><li>rs745211</li><li>rs9934856</li><li>rs4889261</li><li>rs7194871</li><li>rs12596941</li><li>rs34719852</li><li>rs12933806</li><li>rs1869349</li><li>rs11150370</li><li>rs7185774</li><li>rs9937169</li><li>rs36099350</li><li>rs35528333</li><li>rs35970134</li><li>rs9935113</li><li>rs7191351</li><li>rs12931227</li><li>rs9924530</li><li>rs6420424</li><li>rs8060294</li>	2
Q7Z443			<li>I->F at 120: in dbSNP:rs16973585</li><li>S->P at 211: in dbSNP:rs4788591</li><li>K->E at 274: in dbSNP:rs12708923</li><li>T->S at 429: in dbSNP:rs7185272</li><li>A->D at 471: in dbSNP:rs16973537</li><li>H->Q at 571: in dbSNP:rs1559401</li><li>V->M at 593: in dbSNP:rs9925415</li><li>V->I at 903: in dbSNP:rs9921412</li><li>S->R at 1176: in dbSNP:rs1035543</li><li>Y->C at 1474: in dbSNP:rs13335617</li>									<li>rs12708923</li><li>rs1559401</li><li>rs9921412</li><li>rs9925415</li><li>rs7185272</li><li>rs13335617</li><li>rs1035543</li><li>rs16973537</li><li>rs4788591</li><li>rs16973585</li>	2
Q7Z460	23332		<li>I->T at 233: in dbSNP:rs17761055</li>									rs17761055	2
Q7Z465	149428		<li>S->N at 65: in dbSNP:rs12068365</li><li>S->N at 226: in dbSNP:rs12068365</li>									rs12068365	2
Q7Z478	54505		<li>D->A at 309: in dbSNP:rs35874395</li><li>P->H at 630: in dbSNP:rs17854904</li>									<li>rs17854904</li><li>rs35874395</li>	2
Q7Z494	27031		<li>S->T at 360: in NPHP3, MIM: 604387</li><li>N->S at 386: in NPHP3, MIM: 604387</li><li>R->H at 397: in NPHP3, MIM: 604387</li><li>R->Q at 973: in RHPD, MIM: 208540</li><li>L->P at 1141: in NPHP3, MIM: 604387</li><li>A->V at 1221: in NPHP3, MIM: 604387</li><li>S->R at 1252: in NPHP3, MIM: 604387</li><li>R->C at 1305: in dbSNP:rs35485382, MIM: 604387</li><li>S->T at 1314: in NPHP3, MIM: 604387</li>							Q7Z494	<li>Nephronophthisis type 3 (NPHP3) [MIM:604387]</li><li>Renal-hepatic-pancreatic dysplasia (RHPD) [MIM:208540]</li>	rs35485382	2
Q7Z4F1	26020		<li>R->W at 48: in dbSNP:rs2273837</li><li>M->V at 139: in dbSNP:rs28534929</li>									<li>rs28534929</li><li>rs2273837</li>	2
Q7Z4G4	60487		<li>L->Q at 230: in dbSNP:rs17854915</li>									rs17854915	2
Q7Z4H3	51020		<li>R->C at 64: in dbSNP:rs12213371</li>									rs12213371	2
Q7Z4H7	54801		<li>H->Q at 674: in dbSNP:rs10511670</li><li>S->I at 761: in dbSNP:rs4977493</li>									<li>rs10511670</li><li>rs4977493</li>	2
Q7Z4H8	143888		<li>R->L at 319: in dbSNP:rs17853654</li>									rs17853654	2
Q7Z4H9	84792		<li>G->R at 71: in dbSNP:rs3750041</li><li>R->Q at 127: in dbSNP:rs3750040</li><li>V->L at 161: in dbSNP:rs3750039</li><li>V->M at 198: in dbSNP:rs6952125</li><li>G->S at 237: in dbSNP:rs2241445</li>									<li>rs3750039</li><li>rs2241445</li><li>rs3750040</li><li>rs3750041</li><li>rs6952125</li>	2
Q7Z4J2	360203		<li>H->R at 195: in dbSNP:rs35762223</li><li>P->S at 219: in dbSNP:rs17040344</li><li>A->E at 282: in dbSNP:rs12336965</li>									<li>rs12336965</li><li>rs17040344</li><li>rs35762223</li>	2
Q7Z4L5	79809		<li>M->V at 201: in dbSNP:rs1432273</li><li>A->T at 276: in dbSNP:rs7592429</li><li>P->S at 463: in dbSNP:rs16851307</li><li>L->F at 473: in dbSNP:rs2163649</li><li>K->R at 846: in dbSNP:rs7595010</li>									<li>rs2163649</li><li>rs7595010</li><li>rs7592429</li><li>rs16851307</li><li>rs1432273</li>	2
Q7Z4M0	283677		<li>V->M at 148: in dbSNP:rs12102004</li>									rs12102004	2
Q7Z4N2	4308		<li>S->N at 32: in dbSNP:rs2241493</li><li>V->M at 605: in dbSNP:rs17815774</li><li>N->T at 1229: in dbSNP:rs17227996</li><li>R->H at 1305: in dbSNP:rs13380059</li><li>V->I at 1395: in dbSNP:rs3784588</li><li>R->G at 1422: in dbSNP:rs3784587</li><li>H->Q at 1498: in dbSNP:rs12898290</li>									<li>rs17227996</li><li>rs3784588</li><li>rs13380059</li><li>rs17815774</li><li>rs2241493</li><li>rs3784587</li><li>rs12898290</li>	2
Q7Z4N8	283208		<li>D->N at 400: in dbSNP:rs2282488</li>									rs2282488	2
Q7Z4Q2	55027		<li>R->S at 302: in dbSNP:rs34703459</li>									rs34703459	2
Q7Z4R2			<li>P->T at 27: in dbSNP:rs17853975</li>									rs17853975	2
Q7Z4S6	55605		<li>M->T at 356: in CFEOM1, MIM: 135700</li><li>M->R at 947: in CFEOM1, MIM: 135700</li><li>M->T at 947: in CFEOM1, MIM: 135700</li><li>M->V at 947: in CFEOM1, MIM: 135700</li><li>R->Q at 954: in CFEOM1, MIM: 135700</li><li>R->W at 954: in CFEOM1, MIM: 135700</li><li>I->T at 1010: in CFEOM1, MIM: 135700</li>								Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]		2
Q7Z4T8	168391		<li>R->C at 124: in dbSNP:rs6960270</li>									rs6960270	2
Q7Z4T9			<li>P->A at 207: in dbSNP:rs6438544</li><li>S->T at 253: in dbSNP:rs9817771</li><li>S->C at 320: in dbSNP:rs9819218</li>									<li>rs6438544</li><li>rs9819218</li><li>rs9817771</li>	2
Q7Z4V0	220929		<li>P->S at 173: in dbSNP:rs10160116</li><li>K->N at 381: in a breast cancer sample; somatic mutation</li>									rs10160116	2
Q7Z4W2	119180		<li>D->G at 144: in dbSNP:rs1054570</li>									rs1054570	2
Q7Z570	91752		<li>Q->L at 261: in dbSNP:rs12476147</li><li>N->S at 324: in a colorectal cancer sample; somatic mutation</li><li>D->G at 479: in dbSNP:rs35676856</li><li>E->K at 542: in dbSNP:rs4667001</li><li>K->R at 600: in dbSNP:rs35925696</li><li>T->K at 707: in dbSNP:rs1366842</li><li>H->R at 747: in dbSNP:rs12477430</li><li>L->V at 1081: in dbSNP:rs3731834</li><li>G->R at 1152: in dbSNP:rs12105159</li>									<li>rs1366842</li><li>rs35925696</li><li>rs3731834</li><li>rs12105159</li><li>rs12477430</li><li>rs4667001</li><li>rs35676856</li><li>rs12476147</li>	2
Q7Z572	374955		<li>P->S at 24: in a breast cancer sample; somatic mutation</li><li>I->L at 53: in dbSNP:rs12087671</li><li>Q->R at 184: in dbSNP:rs4661746</li><li>V->L at 255: in dbSNP:rs525409</li><li>N->K at 390: in dbSNP:rs12133574</li>									<li>rs12087671</li><li>rs4661746</li><li>rs525409</li><li>rs12133574</li>	2
Q7Z591	80709		<li>P->L at 624: in dbSNP:rs3748176</li><li>Q->R at 1097: in dbSNP:rs1265891</li><li>R->Q at 1119: in dbSNP:rs3748178</li><li>S->P at 1303: in dbSNP:rs2250242</li><li>Y->C at 1327: in dbSNP:rs2787344</li>									<li>rs2250242</li><li>rs3748178</li><li>rs1265891</li><li>rs3748176</li><li>rs2787344</li>	2
Q7Z5B4	79608		<li>P->H at 57: in dbSNP:rs17855498</li><li>G->V at 346: in a colorectal cancer sample; somatic mutation</li>									rs17855498	2
Q7Z5H3	58504		<li>T->K at 410: in dbSNP:rs1867586</li><li>R->C at 612: in dbSNP:rs3747853</li>									<li>rs3747853</li><li>rs1867586</li>	2
Q7Z5H4	317705		<li>R->C at 350: in allele VN1R5*3: in dbSNP rsrs41308154</li>							<li>Q7Z5H4</li><li>Q7YRP1</li>		rs41308154	2
Q7Z5H5			<li>A->V at 52: in allele VN1R4*3</li><li>R->L at 58: in allele VN1R4*4</li><li>D->N at 220: in allele VN1R4*2 and allele VN1R4*3</li>							<li>Q7Z5H5</li><li>Q7YRP2</li>			2
Q7Z5J4	10743		<li>G->A at 90: in dbSNP:rs3803763</li><li>P->T at 165: in dbSNP:rs11649804</li><li>Q->P at 939: in dbSNP:rs1759075</li>									<li>rs3803763</li><li>rs1759075</li><li>rs11649804</li>	2
Q7Z5J8	150709		<li>I->V at 675: in dbSNP:rs16831887</li><li>F->L at 1077: in dbSNP:rs1225090</li>									<li>rs1225090</li><li>rs16831887</li>	2
Q7Z5K2	23063		<li>V->I at 124: in dbSNP:rs10887621</li>									rs10887621	2
Q7Z5L0	284013		<li>T->A at 26: in dbSNP:rs4790706</li><li>T->S at 77: in dbSNP:rs2279961</li>									<li>rs4790706</li><li>rs2279961</li>	2
Q7Z5L2			<li>H->R at 566: in dbSNP:rs11189513</li><li>H->R at 656: in dbSNP:rs1952061</li>									<li>rs11189513</li><li>rs1952061</li>	2
Q7Z5L4	219938		<li>A->V at 50: in dbSNP:rs2282602</li>									rs2282602	2
Q7Z5L7	127435		<li>T->M at 444: in dbSNP:rs12567021</li><li>V->A at 472: in dbSNP:rs1288389</li>									<li>rs1288389</li><li>rs12567021</li>	2
Q7Z5L9	359948		<li>A->V at 254: in dbSNP:rs11502</li>									rs11502	2
Q7Z5M8	145447		<li>I->V at 282: in a breast cancer sample; somatic mutation</li><li>F->L at 334: in dbSNP:rs7154732</li>									rs7154732	2
Q7Z5N4	221935		<li>D->N at 1016: in dbSNP:rs11978101</li><li>H->R at 1641: in dbSNP:rs671694</li>									<li>rs671694</li><li>rs11978101</li>	2
Q7Z5R6	54518		<li>T->A at 404: in dbSNP:rs34081356</li>									rs34081356	2
Q7Z5S9	55314		<li>D->G at 157: in dbSNP:rs34277853</li>									rs34277853	2
Q7Z5U6	348793		<li>S->C at 60: in a breast cancer sample; somatic mutation</li><li>H->P at 338: in dbSNP:rs1048032</li>									rs1048032	2
Q7Z5V6	220004		<li>T->N at 238: in dbSNP:rs11230707</li><li>S->T at 382: in dbSNP:rs12787061</li>									<li>rs11230707</li><li>rs12787061</li>	2
Q7Z5W3	144233		<li>S->R at 288: in dbSNP:rs11169172</li>									rs11169172	2
Q7Z5Y6	353500		<li>R->H at 293: in dbSNP:rs6525</li>									rs6525	2
Q7Z5Y7	222658		<li>S->T at 171: in dbSNP:rs2239808</li>									rs2239808	2
Q7Z628	10276		<li>D->N at 202: in a breast cancer sample; somatic mutation</li><li>T->I at 417: in dbSNP:rs34658946</li>									rs34658946	2
Q7Z695	90956		<li>S->P at 307: in dbSNP:rs1140034</li><li>V->L at 418: in dbSNP rsrs3748092</li><li>V->M at 418: in dbSNP:rs3748092</li><li>P->L at 622: in dbSNP:rs1046515</li><li>P->L at 626: in dbSNP rsrs55922126</li>									<li>rs1046515</li><li>rs55922126</li><li>rs1140034</li><li>rs3748092</li>	2
Q7Z6B0	55297		<li>M->V at 261: in dbSNP:rs1133028</li><li>M->V at 314: in dbSNP:rs10771427</li>									<li>rs10771427</li><li>rs1133028</li>	2
Q7Z6E9	5930		<li>D->H at 43: in dbSNP:rs16973796</li><li>V->A at 555: in dbSNP:rs16973840</li><li>K->I at 1208: in dbSNP:rs3743968</li>									<li>rs16973840</li><li>rs16973796</li><li>rs3743968</li>	2
Q7Z6G3	54550		<li>G->S at 233: in dbSNP:rs2292323</li><li>T->S at 235: in dbSNP:rs2292324</li><li>Q->H at 308: in dbSNP:rs2292329</li><li>L->V at 353: in dbSNP:rs2271298</li>									<li>rs2292323</li><li>rs2292324</li><li>rs2292329</li><li>rs2271298</li>	2
Q7Z6I6	257106		<li>F->L at 70: in dbSNP:rs17854839</li><li>L->V at 591: in dbSNP:rs3813609</li>									<li>rs17854839</li><li>rs3813609</li>	2
Q7Z6J4	221472		<li>Q->H at 32: in dbSNP:rs831510</li>									rs831510	2
Q7Z6J8	90025		<li>T->P at 174: in dbSNP:rs12528542</li><li>V->M at 379: in dbSNP:rs7739323</li>									<li>rs7739323</li><li>rs12528542</li>	2
Q7Z6J9	283989		<li>D->E at 4: in dbSNP:rs7216673</li><li>H->Q at 38: in dbSNP:rs8079373</li><li>S->P at 93: in PCH4; associated with S-307 on the other allele, MIM: 225753</li><li>A->S at 307: in PCH2A and PCH4; associated with P-93 on the other allele, MIM: 225753</li><li>N->K at 347: in dbSNP:rs9911502, MIM: 225753</li><li>V->A at 437: in dbSNP:rs8064529, MIM: 225753</li>								<li>Pontocerebellar hypoplasia type 2A (PCH2A) [MIM:277470]</li><li>Pontocerebellar hypoplasia type 4 (PCH4) [MIM:225753]</li>	<li>rs9911502</li><li>rs8079373</li><li>rs7216673</li><li>rs8064529</li>	2
Q7Z6M1	10244		<li>P->A at 58: in dbSNP:rs13302059</li><li>R->G at 60: in dbSNP:rs17855990</li><li>T->P at 67: in dbSNP:rs13302050</li><li>H->Y at 73: in dbSNP:rs16927965</li><li>S->C at 95: in dbSNP:rs34991596</li><li>D->G at 313: in dbSNP:rs17849326</li><li>M->I at 333: in dbSNP:rs15233</li>									<li>rs17855990</li><li>rs17849326</li><li>rs13302059</li><li>rs16927965</li><li>rs34991596</li><li>rs13302050</li><li>rs15233</li>	2
Q7Z6M4	130916		<li>T->A at 45: in dbSNP:rs3796093</li><li>M->T at 189: in dbSNP:rs2286323</li><li>L->V at 339: in dbSNP:rs2240539</li><li>D->E at 347: in dbSNP:rs10203977</li><li>D->E at 378: in dbSNP:rs10167328</li>									<li>rs10167328</li><li>rs10203977</li><li>rs3796093</li><li>rs2286323</li><li>rs2240539</li>	2
Q7Z6R9	83741		<li>V->F at 214: in a breast cancer sample; somatic mutation</li>										2
Q7Z6W7	150353		<li>E->A at 41: in dbSNP:rs2269619</li>									rs2269619	2
Q7Z6Z6	150379		<li>L->F at 140: in dbSNP:rs2071883</li><li>T->I at 200: in dbSNP:rs10428037</li><li>W->R at 286: in dbSNP:rs739231</li>									<li>rs739231</li><li>rs2071883</li><li>rs10428037</li>	2
Q7Z713	353322		<li>T->S at 152: in dbSNP:rs4317244</li>									rs4317244	2
Q7Z745			<li>M->V at 11: in dbSNP:rs13174484</li><li>R->W at 191: in dbSNP:rs865093</li><li>L->I at 263: in dbSNP:rs10045243</li><li>E->V at 468: in dbSNP:rs17198125</li><li>I->V at 496: in dbSNP:rs325864</li><li>R->H at 526: in dbSNP:rs13173930</li><li>K->N at 617: in dbSNP:rs17854768</li><li>D->V at 648: in dbSNP:rs16870720</li><li>M->V at 781: in dbSNP:rs10067611</li><li>N->K at 918: in dbSNP:rs10054110</li><li>P->L at 1179: in dbSNP:rs2271704</li>									<li>rs16870720</li><li>rs13174484</li><li>rs10067611</li><li>rs10045243</li><li>rs2271704</li><li>rs17854768</li><li>rs13173930</li><li>rs17198125</li><li>rs325864</li><li>rs10054110</li><li>rs865093</li>	2
Q7Z7A1	11064		<li>V->I at 56: in dbSNP:rs10818503</li><li>P->L at 216: in dbSNP:rs10818504</li><li>A->T at 889: in dbSNP:rs17292952</li>									<li>rs10818503</li><li>rs17292952</li><li>rs10818504</li>	2
Q7Z7A3	90353		<li>A->V at 107: in dbSNP:rs17855403</li>									rs17855403	2
Q7Z7B0	27145		<li>P->S at 1003: in dbSNP:rs34807169</li>									rs34807169	2
Q7Z7B8	245939		<li>K->N at 27: in dbSNP:rs4813043</li>									rs4813043	2
Q7Z7F7	128308		<li>R->C at 24: in dbSNP:rs822730</li><li>R->H at 42: in dbSNP:rs35265990</li>									<li>rs35265990</li><li>rs822730</li>	2
Q7Z7G1	116449		<li>S->G at 65: in dbSNP:rs16869924</li>									rs16869924	2
Q7Z7G8	157680		<li>L->R at 2193: in Cohen syndrome; could be a rare polymorphism, MIM: 216550</li><li>Y->C at 2341: in Cohen syndrome, MIM: 216550</li><li>G->D at 2645: in Cohen syndrome, MIM: 216550</li><li>N->S at 2993: in Cohen syndrome: in dbSNP rsrs28940272, MIM: 216550</li><li>L->V at 3001: in a breast cancer sample; somatic mutation, MIM: 216550</li>								Cohen syndrome [MIM:216550]	rs28940272	2
Q7Z7H8	124995		<li>V->I at 125: in dbSNP:rs16948568</li>									rs16948568	2
Q7Z7J5	151871		<li>R->Q at 131: in dbSNP:rs9809030</li>									rs9809030	2
Q7Z7K2	168544		<li>T->A at 324: in dbSNP:rs6965332</li>									rs6965332	2
Q7Z7L1	91607		<li>V->F at 121: in dbSNP:rs12453150</li><li>D->N at 301: in dbSNP:rs4796077</li><li>Y->C at 822: in dbSNP:rs3803860</li>									<li>rs3803860</li><li>rs4796077</li><li>rs12453150</li>	2
Q7Z7L8			<li>T->A at 26: in dbSNP:rs1973717</li><li>S->P at 47: in dbSNP:rs12797684</li><li>R->S at 110: in dbSNP:rs12796438</li><li>R->C at 144: in dbSNP:rs12796667</li><li>F->S at 151: in dbSNP:rs12798337</li><li>P->S at 352: in dbSNP:rs2434483</li>									<li>rs12797684</li><li>rs1973717</li><li>rs2434483</li><li>rs12798337</li><li>rs12796667</li><li>rs12796438</li>	2
Q7Z7M8	374907		<li>S->G at 137: in dbSNP:rs284662</li>									rs284662	2
Q7Z7M9	11227		<li>P->L at 77: in dbSNP:rs3739112</li><li>Q->H at 489: in dbSNP:rs6759356</li><li>E->D at 507: in a breast cancer sample; somatic mutation</li><li>L->F at 692: in a breast cancer sample; somatic mutation</li>									<li>rs3739112</li><li>rs6759356</li>	2
Q86SG4			<li>C->R at 91: in dbSNP:rs8042811</li>									rs8042811	2
Q86SG5	338324		<li>A->T at 84: in dbSNP:rs3006414</li>									rs3006414	2
Q86SH4			<li>T->S at 50: in dbSNP:rs7270737</li>									rs7270737	2
Q86SJ6	147409		<li>Missing  at 125-335: in LAH; in Pakistani population</li><li>A->T at 154: in dbSNP:rs13381457</li><li>I->T at 535: in dbSNP:rs7229252</li><li>I->L at 644: in dbSNP:rs4799570</li>									<li>rs7229252</li><li>rs4799570</li><li>rs13381457</li>	2
Q86SQ4			<li>S->G at 123: in dbSNP:rs17280293</li><li>K->Q at 230: in dbSNP:rs11155242</li><li>Q->R at 1127: in dbSNP:rs1262686</li>									<li>rs11155242</li><li>rs1262686</li><li>rs17280293</li>	2
Q86SQ6	84435		<li>T->I at 38: in an acute myeloid leukemia sample; somatic mutation</li>										2
Q86SQ7	10806		<li>E->D at 378: in dbSNP:rs2275155</li>									rs2275155	2
Q86SQ9	79947		<li>V->M at 253: in dbSNP:rs3816539</li>									rs3816539	2
Q86SS6	143425		<li>D->N at 445: in a colorectal cancer sample; somatic mutation</li>										2
Q86SX6	51218		<li>A->T at 146: in dbSNP:rs11628901</li>									rs11628901	2
Q86T26	132724		<li>V->I at 242: in dbSNP:rs12331141</li><li>D->A at 325: in dbSNP:rs2319796</li><li>T->S at 348: in dbSNP:rs2319797</li>									<li>rs12331141</li><li>rs2319797</li><li>rs2319796</li>	2
Q86T75			<li>R->K at 41: in dbSNP:rs6675526</li><li>L->V at 44: in dbSNP:rs4323762</li>									<li>rs4323762</li><li>rs6675526</li>	2
Q86T90	57536		<li>R->C at 383: in dbSNP:rs12326301</li>									rs12326301	2
Q86TB3			<li>K->T at 2: in dbSNP:rs6566987</li><li>R->S at 136: in dbSNP:rs9944810</li><li>H->Q at 719: in dbSNP:rs12103986</li><li>G->S at 810: in dbSNP:rs3809970</li><li>R->T at 825: in dbSNP:rs3809972</li><li>K->N at 829: in dbSNP:rs3809973</li><li>S->L at 884: in dbSNP:rs3809974</li><li>T->I at 891: in dbSNP:rs3826593</li><li>N->K at 916: in dbSNP:rs4940404</li><li>E->K at 942: in an ovarian undifferentiated carcinoma sample; somatic mutation</li><li>S->T at 977: in dbSNP:rs3809975</li><li>L->V at 1057: in dbSNP:rs3809976</li><li>T->I at 1133: in dbSNP:rs3826593</li><li>K->N at 1134: in dbSNP:rs35791514</li><li>H->P at 1174: in dbSNP:rs3809977</li><li>L->V at 1296: in dbSNP:rs3809976</li><li>P->S at 1449: in dbSNP:rs3809982</li><li>K->T at 1476: in a melanoma metastatic sample; somatic mutation</li><li>A->S at 1551: in dbSNP:rs3809983</li><li>Q->R at 1579: in dbSNP:rs33910491</li><li>K->E at 1729: in dbSNP:rs34409558</li><li>K->E at 1730: in dbSNP:rs17065127</li><li>H->Y at 1767: in dbSNP:rs7234999</li><li>E->K at 1969: in dbSNP:rs17065127</li><li>I->V at 2157: in dbSNP:rs7240666</li>									<li>rs3809977</li><li>rs7234999</li><li>rs7240666</li><li>rs3809975</li><li>rs3809976</li><li>rs9944810</li><li>rs12103986</li><li>rs33910491</li><li>rs17065127</li><li>rs6566987</li><li>rs3809970</li><li>rs34409558</li><li>rs3809982</li><li>rs3809973</li><li>rs3809983</li><li>rs3809974</li><li>rs3809972</li><li>rs35791514</li><li>rs4940404</li><li>rs3826593</li>	2
Q86TC9	84665		<li>V->A at 393: in dbSNP:rs11596653</li><li>F->L at 628: in dbSNP:rs10823148</li><li>S->N at 691: in dbSNP:rs10997975</li><li>S->N at 707: in dbSNP:rs7916821</li><li>S->R at 803: in dbSNP:rs3814182</li><li>P->T at 1135: in dbSNP:rs7079481</li>									<li>rs7916821</li><li>rs10823148</li><li>rs7079481</li><li>rs11596653</li><li>rs10997975</li><li>rs3814182</li>	2
Q86TE4	338645		<li>E->Q at 308: in dbSNP:rs7930185</li>									rs7930185	2
Q86TH1	9719		<li>R->H at 113: in geleophysic dysplasia; leads to the reduced secretion of the mutated protein, MIM: 231050</li><li>E->K at 114: in geleophysic dysplasia, MIM: 231050</li><li>P->L at 147: in geleophysic dysplasia; leads to the reduced secretion of the mutated protein, MIM: 231050</li><li>V->I at 364: in dbSNP:rs35767802, MIM: 231050</li><li>G->R at 811: in geleophysic dysplasia; leads to the reduced secretion of the mutated protein, MIM: 231050</li>	secretion	GO:0046903						Geleophysic dysplasia [MIM:231050]	rs35767802	2
Q86TI0	23216		<li>S->P at 14: in dbSNP:rs2279027</li><li>T->I at 55: in dbSNP:rs4008480</li><li>R->W at 125: may be associated with risk of familial obesity; dbSNP:rs35859249</li><li>V->G at 228: in dbSNP:rs10501</li><li>Y->S at 685: in dbSNP:rs7677030</li><li>R->Q at 1136: in dbSNP:rs13110318</li>									<li>rs13110318</li><li>rs2279027</li><li>rs4008480</li><li>rs7677030</li><li>rs10501</li><li>rs35859249</li>	2
Q86TJ5	115196		<li>E->G at 190: in dbSNP:rs867168</li><li>V->I at 211: in dbSNP:rs867169</li>									<li>rs867169</li><li>rs867168</li>	2
Q86TM3	168400		<li>V->A at 62: in dbSNP:rs4412516</li><li>M->I at 381: in dbSNP:rs5925720</li><li>R->M at 391: in dbSNP:rs5926203</li>									<li>rs4412516</li><li>rs5926203</li><li>rs5925720</li>	2
Q86TN4	83707		<li>F->L at 3: in dbSNP:rs12788168</li><li>H->R at 172: in dbSNP:rs1059440</li><li>R->C at 221: in dbSNP:rs11549690</li>									<li>rs1059440</li><li>rs12788168</li><li>rs11549690</li>	2
Q86TS9	122704		<li>G->V at 5: in dbSNP:rs1135641</li><li>V->A at 19: in dbSNP:rs4982685</li><li>K->R at 104: in dbSNP:rs11538931</li>									<li>rs1135641</li><li>rs11538931</li><li>rs4982685</li>	2
Q86TU6			<li>E->D at 21: in dbSNP:rs8011237</li>									rs8011237	2
Q86TU7	84193		<li>N->D at 278: in dbSNP:rs1740231</li>									rs1740231	2
Q86TY3	145407		<li>T->I at 96: in dbSNP:rs3829765</li><li>A->V at 391: in dbSNP:rs1018504</li><li>V->F at 528: in dbSNP:rs12886921</li><li>Q->E at 613: in dbSNP:rs2273442</li>									<li>rs1018504</li><li>rs3829765</li><li>rs12886921</li><li>rs2273442</li>	2
Q86TZ1	115669		<li>I->S at 87: in dbSNP:rs12896790</li><li>A->T at 98: in dbSNP:rs17768654</li><li>T->I at 140: in dbSNP:rs4901284</li><li>T->S at 376: in dbSNP:rs17107176</li>									<li>rs4901284</li><li>rs17107176</li><li>rs17768654</li><li>rs12896790</li>	2
Q86U06	55147		<li>D->N at 184: in dbSNP:rs34246954</li><li>A->AA at 393</li><li>F->L at 428: in dbSNP:rs1127066</li>									<li>rs1127066</li><li>rs34246954</li>	2
Q86U17	256394		<li>T->S at 406: in dbSNP:rs17752285</li>									rs17752285	2
Q86U38	161424		<li>P->S at 51: in dbSNP:rs11848295</li><li>S->N at 308: in dbSNP:rs4280164</li><li>S->Y at 497: in a breast cancer sample; somatic mutation</li><li>R->Q at 626: in a breast cancer sample; somatic mutation</li>									<li>rs4280164</li><li>rs11848295</li>	2
Q86U70	8861		<li>R->Q at 299: in a colorectal cancer sample; somatic mutation</li>										2
Q86UB9	65084		<li>P->H at 193: in dbSNP:rs17854687</li><li>G->R at 218: in dbSNP:rs2276102</li><li>G->A at 430: in dbSNP:rs11235097</li>									<li>rs17854687</li><li>rs11235097</li><li>rs2276102</li>	2
Q86UC2	83861		<li>N->S at 201: in dbSNP:rs16889320</li><li>R->Q at 213: in dbSNP:rs34582178</li><li>R->Q at 398: in dbSNP:rs10455840</li><li>M->T at 439: in dbSNP:rs768994</li><li>E->K at 484: in dbSNP:rs12204826</li><li>G->D at 518: in dbSNP:rs3756987</li>									<li>rs768994</li><li>rs34582178</li><li>rs16889320</li><li>rs3756987</li><li>rs10455840</li><li>rs12204826</li>	2
Q86UD1	220323		<li>H->R at 210: in dbSNP:rs2508489</li><li>R->H at 217: in dbSNP:rs2508490</li>									<li>rs2508489</li><li>rs2508490</li>	2
Q86UD3	115123		<li>R->Q at 68: in dbSNP:rs34821177</li>									rs34821177	2
Q86UD4	79673		<li>N->D at 182: in dbSNP:rs34255209</li>									rs34255209	2
Q86UD7	353149		<li>V->A at 206: in dbSNP:rs11650318</li><li>G->S at 234: in dbSNP:rs17855672</li>									<li>rs11650318</li><li>rs17855672</li>	2
Q86UE3	339327		<li>L->V at 15: in a breast cancer sample; somatic mutation</li><li>Q->R at 201: in dbSNP:rs17854378</li><li>R->T at 243: in dbSNP:rs2111543</li><li>A->V at 253: in dbSNP:rs2111544</li><li>V->E at 298: in dbSNP:rs17710336</li><li>E->G at 427: in dbSNP:rs12460371</li><li>L->F at 452: in dbSNP:rs7255186</li><li>L->F at 652: in dbSNP:rs12373540</li>									<li>rs12373540</li><li>rs12460371</li><li>rs17710336</li><li>rs7255186</li><li>rs2111544</li><li>rs17854378</li><li>rs2111543</li>	2
Q86UE6	347730		<li>N->S at 330: in dbSNP:rs6733871</li>									rs6733871	2
Q86UG4	133482		<li>A->V at 27: in dbSNP:rs13190449</li><li>K->R at 381: in dbSNP:rs17150488</li><li>P->A at 527: in dbSNP:rs10073333</li><li>T->R at 654: in dbSNP:rs10055840</li>									<li>rs10073333</li><li>rs10055840</li><li>rs13190449</li><li>rs17150488</li>	2
Q86UK0	26154		<li>S->T at 459: in dbSNP:rs7560008</li><li>E->G at 550: in dbSNP:rs16853149</li><li>T->S at 777: in dbSNP:rs7560008</li><li>G->D at 1251: in dbSNP:rs13414448</li><li>N->S at 1380: in LI2: in dbSNP rsrs28940269, MIM: 601277</li><li>G->E at 1381: in LI2: in dbSNP rsrs28940268, MIM: 601277</li><li>R->H at 1514: in LI2: in dbSNP rsrs28940270, MIM: 601277</li><li>E->K at 1539: in LI2: in dbSNP rsrs28940271, MIM: 601277</li><li>R->C at 1546: in dbSNP:rs13401480, MIM: 601277</li><li>G->S at 1651: in LI2: in dbSNP rsrs28940568, MIM: 601277</li><li>E->K at 2064: in dbSNP:rs1213011, MIM: 601277</li><li>D->N at 2365: in HI; dbSNP:rs726070, MIM: 242500</li>								<li>Ichthyosis lamellar type 2 (LI2) [MIM:601277]</li><li>Ichthyosis harlequin (HI) [MIM:242500]</li>	<li>rs28940271</li><li>rs13414448</li><li>rs28940270</li><li>rs28940568</li><li>rs7560008</li><li>rs726070</li><li>rs28940268</li><li>rs13401480</li><li>rs28940269</li><li>rs1213011</li><li>rs16853149</li>	2
Q86UK5	132884		<li>S->G at 230: in dbSNP:rs4689278</li><li>I->R at 283: in EVC, MIM: 225500</li><li>A->S at 630: in a colorectal cancer sample; somatic mutation, MIM: 225500</li><li>T->A at 699: in dbSNP:rs730469, MIM: 225500</li><li>R->W at 950: in EVC, MIM: 225500</li><li>L->V at 994: in a colorectal cancer sample; somatic mutation, MIM: 225500</li>							P57679	Ellis-van Creveld syndrome (EVC) [MIM:225500]	<li>rs4689278</li><li>rs730469</li>	2
Q86UK7	90850		<li>S->Y at 453: in dbSNP:rs11556528</li><li>T->M at 637: in dbSNP:rs2286469</li><li>C->S at 725: in dbSNP:rs2286468</li>									<li>rs2286469</li><li>rs2286468</li><li>rs11556528</li>	2
Q86UP2	3895		<li>P->R at 226: in a breast cancer sample; somatic mutation</li><li>V->M at 282: in dbSNP:rs2274073</li><li>T->P at 1316: in a breast cancer sample; somatic mutation</li>									rs2274073	2
Q86UP8	84163		<li>H->N at 514: in dbSNP:rs2529318</li>									rs2529318	2
Q86UQ0	51385		<li>T->A at 12: in dbSNP:rs9847953</li><li>T->R at 216: in dbSNP:rs11718329</li>									<li>rs9847953</li><li>rs11718329</li>	2
Q86UT6	79671		<li>P->S at 63: in dbSNP:rs643423</li><li>R->L at 125: in dbSNP:rs3809045</li><li>A->E at 793: in dbSNP:rs4245191</li><li>A->S at 843: in dbSNP:rs35500631</li>									<li>rs35500631</li><li>rs4245191</li><li>rs643423</li><li>rs3809045</li>	2
Q86UT8	338657		<li>W->G at 244: in dbSNP:rs600648</li>									rs600648	2
Q86UV5	84196		<li>S->C at 125: in dbSNP:rs4253886</li><li>E->K at 135: in dbSNP:rs12097805</li>									<li>rs12097805</li><li>rs4253886</li>	2
Q86UV6	378108		<li>W->R at 13: in dbSNP:rs121966</li>									rs121966	2
Q86UW1	200931		<li>V->I at 202: in dbSNP:rs939885</li>									rs939885	2
Q86UW6	55728		<li>S->I at 101: in dbSNP:rs17511668</li><li>M->V at 196: in dbSNP:rs10014170</li><li>P->A at 283: in a breast cancer sample; somatic mutation</li><li>D->N at 611: in dbSNP:rs794001</li><li>T->A at 1587: in dbSNP:rs2271395</li>									<li>rs10014170</li><li>rs17511668</li><li>rs794001</li><li>rs2271395</li>	2
Q86UW7	93664		<li>A->T at 298: in dbSNP:rs17144625</li>									rs17144625	2
Q86UW9	113878		<li>A->T at 94: in dbSNP:rs2462312</li><li>G->E at 384: in dbSNP:rs1638152</li><li>T->A at 421: in dbSNP:rs6979487</li>									<li>rs6979487</li><li>rs1638152</li><li>rs2462312</li>	2
Q86UX2	80760		<li>E->K at 139: in dbSNP:rs12761771</li><li>N->H at 207: in dbSNP:rs36056263</li><li>T->P at 570: in dbSNP:rs2275069</li><li>R->C at 629: in dbSNP:rs34213756</li>									<li>rs36056263</li><li>rs2275069</li><li>rs12761771</li><li>rs34213756</li>	2
Q86UX6	282974		<li>T->A at 334: in dbSNP:rs17854384</li><li>R->H at 376: in a colorectal cancer sample; somatic mutation</li><li>A->T at 454: in dbSNP rsrs56109103</li><li>E->K at 467: in dbSNP rsrs55812591</li>									<li>rs56109103</li><li>rs17854384</li><li>rs55812591</li>	2
Q86UY5	84985		<li>A->T at 237: in dbSNP:rs7813708</li>									rs7813708	2
Q86UY8	51559		<li>A->E at 266: in dbSNP:rs12184494</li>									rs12184494	2
Q86UZ6			<li>T->A at 11: in dbSNP:rs2281929</li>									rs2281929	2
Q86V20	54537		<li>F->L at 132: in dbSNP:rs3129520</li><li>S->C at 550: in dbSNP:rs11202365</li><li>R->H at 747: in dbSNP:rs11816168</li>									<li>rs3129520</li><li>rs11202365</li><li>rs11816168</li>	2
Q86V21	65985		<li>I->V at 118: in dbSNP:rs12831803</li>									rs12831803	2
Q86V24	79602		<li>Q->R at 39: in dbSNP:rs12298275</li>									rs12298275	2
Q86V40	129293		<li>H->R at 143: in dbSNP:rs1863772</li><li>R->Q at 379: in dbSNP:rs2288352</li><li>P->L at 381: in dbSNP:rs1649292</li>									<li>rs1863772</li><li>rs2288352</li><li>rs1649292</li>	2
Q86V42	220108		<li>D->H at 181: in dbSNP:rs17075482</li>									rs17075482	2
Q86V48	7798		<li>G->S at 458: in dbSNP:rs477830</li><li>Q->K at 461: in dbSNP:rs3765407</li><li>D->N at 868: in dbSNP:rs10799790</li>									<li>rs3765407</li><li>rs477830</li><li>rs10799790</li>	2
Q86V59	55228		<li>S->T at 80: in dbSNP:rs12610254</li><li>C->Y at 97: in dbSNP:rs7248888</li>									<li>rs7248888</li><li>rs12610254</li>	2
Q86V71	353088		<li>H->Y at 650: in dbSNP:rs2562473</li>									rs2562473	2
Q86V85	160897		<li>T->N at 32: in a breast cancer sample; somatic mutation</li>										2
Q86V87	64760		<li>T->A at 315: in dbSNP:rs35497596</li><li>G->R at 667: in dbSNP:rs7822461</li>									<li>rs7822461</li><li>rs35497596</li>	2
Q86VD1	27136		<li>T->P at 153: in dbSNP:rs35282274</li><li>K->M at 322: in dbSNP:rs17225637</li><li>I->F at 470: in dbSNP:rs4855576</li><li>M->V at 478: in dbSNP:rs3762697</li><li>M->I at 649: in dbSNP:rs35421732</li><li>S->N at 767: in dbSNP:rs2290057</li><li>H->Y at 836: in dbSNP:rs2593943</li><li>S->C at 982: in dbSNP:rs16855035</li><li>S->W at 982: in dbSNP:rs16855035</li>									<li>rs17225637</li><li>rs2290057</li><li>rs16855035</li><li>rs4855576</li><li>rs35421732</li><li>rs3762697</li><li>rs2593943</li><li>rs35282274</li>	2
Q86VD7	284439		<li>S->P at 39: in dbSNP:rs17854359</li><li>L->M at 312: in dbSNP:rs17854358</li>									<li>rs17854359</li><li>rs17854358</li>	2
Q86VD9	80235		<li>T->A at 266: in dbSNP:rs574365</li><li>Q->R at 340: in dbSNP:rs4916589</li><li>V->A at 417: in dbSNP:rs1147238</li><li>M->I at 487: in dbSNP:rs17855662</li>									<li>rs4916589</li><li>rs574365</li><li>rs17855662</li><li>rs1147238</li>	2
Q86VE3			<li>W->R at 92: in dbSNP:rs10126146</li>									rs10126146	2
Q86VF2	91156		<li>T->M at 1056: in dbSNP:rs6690992</li><li>H->Y at 1095: in dbSNP:rs3738270</li>									<li>rs6690992</li><li>rs3738270</li>	2
Q86VF7	4892		<li>A->S at 132: in dbSNP:rs34700024</li><li>Q->E at 186: in dbSNP:rs35049661</li><li>V->A at 208: in dbSNP:rs2154028</li><li>Y->C at 249: in dbSNP:rs2185913</li><li>A->T at 282: in dbSNP:rs2275799</li><li>A->T at 344: in dbSNP:rs3121478</li><li>Q->R at 360: in dbSNP:rs3127106</li><li>D->N at 484: in dbSNP:rs11196400</li><li>S->L at 490: in dbSNP:rs3189030</li><li>N->I at 519: in dbSNP:rs2270182</li><li>A->S at 647: in dbSNP:rs2286734</li><li>A->V at 674: in dbSNP:rs2286735</li><li>R->C at 884: in dbSNP:rs868738</li><li>A->V at 1112: in dbSNP:rs1539587</li><li>I->V at 1183: in dbSNP:rs10749138</li><li>L->P at 1531: in dbSNP:rs11196389</li><li>R->C at 1566: in dbSNP:rs1885434</li><li>D->N at 1569: in dbSNP:rs11575798</li><li>A->S at 1643: in dbSNP:rs11575797</li>									<li>rs2275799</li><li>rs11196389</li><li>rs11575798</li><li>rs11575797</li><li>rs10749138</li><li>rs11196400</li><li>rs3189030</li><li>rs868738</li><li>rs3121478</li><li>rs1885434</li><li>rs2185913</li><li>rs34700024</li><li>rs35049661</li><li>rs2154028</li><li>rs2286734</li><li>rs2286735</li><li>rs1539587</li><li>rs2270182</li><li>rs3127106</li>	2
Q86VH2	55582		<li>I->V at 213: in dbSNP:rs12001918</li><li>R->Q at 300: in dbSNP:rs35594736</li>									<li>rs35594736</li><li>rs12001918</li>	2
Q86VI1	100130525		<li>Y->N at 75: in a breast cancer sample; somatic mutation</li><li>A->D at 514: in a breast cancer sample; somatic mutation</li><li>Q->E at 561: in dbSNP:rs9939768</li><li>S->G at 634: in dbSNP:rs16957212</li>									<li>rs9939768</li><li>rs16957212</li>	2
Q86VL8	146802		<li>G->R at 429: in dbSNP:rs34399035</li>									rs34399035	2
Q86VM9	124245		<li>A->T at 368: in dbSNP:rs34808360</li><li>H->R at 440: in dbSNP:rs17855686</li>									<li>rs34808360</li><li>rs17855686</li>	2
Q86VP1	8887		<li>S->N at 58: in dbSNP:rs7809260</li><li>L->I at 307: in dbSNP:rs11540483</li><li>Q->R at 457: in a breast cancer sample; somatic mutation</li>									<li>rs11540483</li><li>rs7809260</li>	2
Q86VP3	23241		<li>T->A at 185: in dbSNP:rs8010888</li><li>L->S at 493: in dbSNP:rs4076933</li>									<li>rs4076933</li><li>rs8010888</li>	2
Q86VP6	55832		<li>V->A at 803: in dbSNP:rs12580996</li><li>A->V at 952: in dbSNP:rs17854618</li>									<li>rs12580996</li><li>rs17854618</li>	2
Q86VQ0	167691		<li>L->S at 24: in dbSNP:rs2655655</li><li>D->A at 26: in dbSNP:rs34068461</li><li>R->Q at 66: in dbSNP:rs35338066</li><li>A->P at 546: in dbSNP:rs35415141</li><li>G->D at 656: in dbSNP:rs1875845</li>									<li>rs34068461</li><li>rs35415141</li><li>rs35338066</li><li>rs2655655</li><li>rs1875845</li>	2
Q86VQ3	84203		<li>K->E at 341: in dbSNP:rs11081510</li><li>D->G at 357: in dbSNP:rs2240906</li><li>A->T at 461: in dbSNP:rs17732496</li><li>R->T at 487: in dbSNP:rs17805544</li>									<li>rs17732496</li><li>rs11081510</li><li>rs17805544</li><li>rs2240906</li>	2
Q86VR8	24147		<li>M->L at 153: in dbSNP:rs12792700</li>									rs12792700	2
Q86VS3	64799		<li>L->V at 932: in dbSNP:rs3985641</li>									rs3985641	2
Q86VS8	84376		<li>Q->R at 221: in a breast cancer sample; somatic mutation</li><li>Y->S at 670: in dbSNP:rs34131505</li>									rs34131505	2
Q86VV4	202151		<li>R->T at 70: in dbSNP:rs1035480</li><li>A->D at 111: in dbSNP:rs35433829</li><li>A->V at 271: in dbSNP:rs16902872</li>									<li>rs16902872</li><li>rs35433829</li><li>rs1035480</li>	2
Q86VV8	25914		<li>S->A at 126: in dbSNP:rs3911730</li><li>K->R at 245: in dbSNP:rs17082206</li><li>H->R at 1742: in dbSNP:rs285227</li><li>S->F at 1761: in dbSNP:rs4891392</li>									<li>rs17082206</li><li>rs3911730</li><li>rs4891392</li><li>rs285227</li>	2
Q86VW0	91404		<li>Y->F at 49: in dbSNP:rs17854501</li><li>V->A at 563: in dbSNP:rs1047994</li>									<li>rs17854501</li><li>rs1047994</li>	2
Q86VW1	85413		<li>H->R at 49: in dbSNP:rs714368</li><li>V->A at 252: in dbSNP:rs723685</li><li>M->T at 409: in dbSNP:rs12210538</li><li>V->I at 431: in dbSNP:rs35948062</li>									<li>rs723685</li><li>rs714368</li><li>rs35948062</li><li>rs12210538</li>	2
Q86VY4	85453		<li>T->S at 120: in dbSNP:rs2635164</li><li>I->V at 365: in dbSNP:rs17854366</li>									<li>rs17854366</li><li>rs2635164</li>	2
Q86VZ4	84918		<li>P->R at 92: in dbSNP:rs9322225</li><li>R->H at 351: in dbSNP:rs17854254</li>									<li>rs17854254</li><li>rs9322225</li>	2
Q86W10	199974		<li>P->L at 393: in dbSNP:rs28463559</li>									rs28463559	2
Q86W24	338323		<li>E->K at 21: in dbSNP:rs11041150</li><li>N->T at 48: in dbSNP:rs12801277</li><li>R->E at 55: requires 2 nucleotide substitutions</li><li>D->V at 86: associated with spermatogenic failure</li><li>K->R at 92: in dbSNP:rs16921697</li><li>S->L at 98</li><li>A->T at 375: associated with spermatogenic failure</li><li>T->I at 397</li><li>V->M at 441</li><li>L->F at 511: in dbSNP:rs11041151</li><li>D->Q at 522: associated with spermatogenic failure; requires 2 nucleotide substitutions</li><li>S->C at 779: in a breast cancer sample; somatic mutation</li><li>E->K at 808: in dbSNP:rs10839708</li><li>S->T at 951</li><li>L->S at 954</li><li>L->F at 1010: in dbSNP:rs17280682</li><li>M->I at 1019: associated with spermatogenic failure</li>									<li>rs12801277</li><li>rs10839708</li><li>rs17280682</li><li>rs16921697</li><li>rs11041151</li><li>rs11041150</li>	2
Q86W25	126204		<li>Q->R at 247: in dbSNP:rs303997</li><li>N->S at 781: in dbSNP:rs17711239</li>									<li>rs303997</li><li>rs17711239</li>	2
Q86W28	126205		<li>P->L at 25: in dbSNP:rs306507</li><li>V->L at 116: in dbSNP:rs306506</li><li>P->R at 126: in a breast cancer sample; somatic mutation</li><li>A->T at 234: in dbSNP:rs11880691</li><li>Q->R at 268: in dbSNP:rs7259764</li><li>Q->E at 367: in dbSNP:rs11880748</li><li>E->V at 375: in a breast cancer sample; somatic mutation</li><li>A->V at 543: in dbSNP:rs41391053</li><li>R->W at 651: in dbSNP:rs41481648</li><li>V->A at 782: in dbSNP:rs306496</li><li>K->R at 937: in dbSNP:rs306481</li><li>Q->L at 1045: in a colorectal cancer sample; somatic mutation</li>									<li>rs306496</li><li>rs306506</li><li>rs306507</li><li>rs41481648</li><li>rs41391053</li><li>rs11880691</li><li>rs7259764</li><li>rs306481</li><li>rs11880748</li>	2
Q86W34	51321		<li>D->N at 30: in dbSNP:rs3213690</li><li>H->Q at 146: in dbSNP:rs3207194</li>									<li>rs3213690</li><li>rs3207194</li>	2
Q86W50	79066		<li>N->S at 479: in dbSNP:rs17834783</li>									rs17834783	2
Q86W67	653140		<li>Y->C at 140: in dbSNP:rs2288073</li>									rs2288073	2
Q86W92	8496		<li>V->L at 148: in dbSNP:rs2194816</li>									rs2194816	2
Q86WB7	54346		<li>R->K at 6: in dbSNP:rs36110805</li><li>K->Q at 128: in dbSNP:rs35313366</li><li>V->I at 292: in dbSNP:rs2072767</li><li>V->M at 295: in dbSNP:rs4708771</li><li>Y->H at 387: in dbSNP:rs663227</li><li>M->T at 403: in dbSNP:rs663606</li><li>V->I at 409: in dbSNP:rs7739897</li><li>V->A at 445</li>									<li>rs7739897</li><li>rs2072767</li><li>rs663227</li><li>rs35313366</li><li>rs36110805</li><li>rs663606</li><li>rs4708771</li>	2
Q86WC4	28962		<li>L->F at 52: in dbSNP:rs9480830</li>									rs9480830	2
Q86WD7	327657		<li>A->V at 24: in dbSNP:rs4905204</li><li>P->L at 218: in dbSNP:rs17090921</li><li>H->Q at 236: in dbSNP:rs28583900</li><li>R->I at 292: in dbSNP:rs28618118</li><li>V->A at 330: in dbSNP:rs11628722</li>									<li>rs28583900</li><li>rs17090921</li><li>rs4905204</li><li>rs11628722</li><li>rs28618118</li>	2
Q86WG3	85300		<li>S->R at 301: in ATCAY, MIM: 601238</li>							<li>Q86WG3</li><li>Q9GKT0</li>	Cerebellar ataxia, cayman type (ATCAY) [MIM:601238]		2
Q86WG5	81846		<li>P->L at 303: in dbSNP:rs16907355</li><li>E->K at 679: in dbSNP:rs7102464</li><li>Q->E at 1216: in dbSNP:rs12574508</li>									<li>rs12574508</li><li>rs16907355</li><li>rs7102464</li>	2
Q86WH2	283349		<li>R->H at 232</li>										2
Q86WI1	93035		<li>W->C at 373: in dbSNP:rs16879428</li><li>Y->H at 440: in dbSNP:rs964307</li><li>H->R at 923: in dbSNP:rs4735133</li><li>Y->H at 943: in dbSNP:rs16879534</li><li>A->E at 957: in dbSNP:rs35375999</li><li>T->A at 1192: in dbSNP:rs10093885</li><li>R->S at 1514: in dbSNP:rs1673408</li><li>T->R at 1539: in dbSNP:rs7820062</li><li>L->V at 1965: in dbSNP:rs1673407</li><li>H->Q at 3050: in dbSNP:rs1783147</li><li>V->I at 3080: in dbSNP:rs10441509</li><li>I->V at 3411: in dbSNP:rs16879659</li><li>D->E at 3607: in dbSNP:rs9774677</li><li>L->F at 3862: in dbSNP:rs16879693</li><li>V->I at 4220: in dbSNP:rs1783174</li>									<li>rs1783174</li><li>rs1673407</li><li>rs964307</li><li>rs1673408</li><li>rs16879659</li><li>rs16879693</li><li>rs1783147</li><li>rs16879534</li><li>rs7820062</li><li>rs10093885</li><li>rs35375999</li><li>rs16879428</li><li>rs9774677</li><li>rs4735133</li><li>rs10441509</li>	2
Q86WI3	84166		<li>S->L at 210: in dbSNP:rs16965150</li><li>M->I at 361: in a breast cancer sample; somatic mutation</li><li>P->L at 453: in dbSNP:rs9938543</li><li>C->R at 500: in dbSNP:rs28438857</li><li>S->N at 833: in dbSNP:rs35534915</li><li>Q->K at 1105: in dbSNP:rs289723</li><li>V->A at 1455: in dbSNP:rs7190199</li><li>Q->R at 1466: in dbSNP:rs7185320</li>									<li>rs289723</li><li>rs7190199</li><li>rs7185320</li><li>rs28438857</li><li>rs35534915</li><li>rs9938543</li><li>rs16965150</li>	2
Q86WJ1	9557		<li>R->P at 25: in dbSNP:rs11588753</li><li>H->Q at 350: in dbSNP:rs17356233</li><li>E->A at 649: in dbSNP:rs13374920</li><li>S->C at 743: in dbSNP:rs2275249</li><li>S->A at 885: in dbSNP:rs4950394</li>									<li>rs2275249</li><li>rs4950394</li><li>rs11588753</li><li>rs17356233</li><li>rs13374920</li>	2
Q86WK9	164091		<li>G->R at 272: in dbSNP:rs6689014</li>									rs6689014	2
Q86WN1	89848		<li>N->K at 344: in dbSNP:rs3749760</li><li>P->L at 681: in dbSNP:rs32957</li>									<li>rs3749760</li><li>rs32957</li>	2
Q86WN2	338376		<li>Q->H at 46: in dbSNP:rs1125488</li>									rs1125488	2
Q86WP2	65056		<li>R->G at 122: in dbSNP:rs1862171</li>									rs1862171	2
Q86WR7	254427		<li>A->V at 412: in dbSNP:rs12253554</li>									rs12253554	2
Q86WS5	283471		<li>Y->H at 19: in dbSNP:rs10876100</li><li>K->E at 62: in dbSNP:rs829121</li><li>A->T at 127: in dbSNP:rs861204</li>									<li>rs829121</li><li>rs861204</li><li>rs10876100</li>	2
Q86WT1	92104		<li>V->I at 446: in dbSNP:rs28630685</li><li>K->R at 577: in dbSNP:rs17854236</li>									<li>rs17854236</li><li>rs28630685</li>	2
Q86WT6	140691		<li>V->A at 31: in dbSNP:rs3759880</li>									rs3759880	2
Q86WU2	197257		<li>R->K at 233: in dbSNP:rs11644820</li>									rs11644820	2
Q86WX3	91582		<li>E->A at 124: in dbSNP:rs17001278</li>									rs17001278	2
Q86WZ0	399671		<li>L->H at 587: in dbSNP:rs12894435</li><li>W->G at 596: in dbSNP:rs12894425</li><li>V->A at 613: in dbSNP:rs12894400</li>									<li>rs12894435</li><li>rs12894400</li><li>rs12894425</li>	2
Q86X02	30850		<li>D->E at 300: in dbSNP:rs36057512</li>									rs36057512	2
Q86X19	200728		<li>G->S at 26: in dbSNP:rs17854454</li>									rs17854454	2
Q86X24	84072		<li>T->I at 267: in dbSNP:rs1336900</li>									rs1336900	2
Q86X27	55103		<li>N->S at 225: in dbSNP:rs35161510</li>									rs35161510	2
Q86X29	51599		<li>S->N at 363: in dbSNP:rs34259399</li>									rs34259399	2
Q86X40	123355		<li>R->H at 168: in dbSNP:rs11857384</li>									rs11857384	2
Q86X45	23639		<li>T->I at 232: in dbSNP:rs2293979</li><li>I->T at 466: in dbSNP:rs9297853</li>									<li>rs9297853</li><li>rs2293979</li>	2
Q86X51	340602		<li>R->K at 470: in dbSNP:rs1875755</li>									rs1875755	2
Q86X52	22856		<li>P->S at 359: in dbSNP:rs3743193</li><li>Q->H at 652: in dbSNP:rs4426333</li>									<li>rs3743193</li><li>rs4426333</li>	2
Q86X53	157697		<li>L->F at 365: in a colorectal cancer sample; somatic mutation</li><li>R->S at 403: in dbSNP:rs1703879</li>									rs1703879	2
Q86X59	388407		<li>P->L at 186: in dbSNP:rs9907379</li>									rs9907379	2
Q86X60	653820		<li>G->V at 82: in dbSNP:rs17838150</li><li>P->L at 94: in dbSNP:rs1572701</li>									<li>rs17838150</li><li>rs1572701</li>	2
Q86X67	25961		<li>G->D at 81: in dbSNP:rs34284214</li><li>M->V at 273: in dbSNP:rs17658872</li>									<li>rs34284214</li><li>rs17658872</li>	2
Q86X83	51122		<li>I->L at 113: in dbSNP:rs9843784</li><li>Q->H at 177: in dbSNP:rs1546732</li>									<li>rs9843784</li><li>rs1546732</li>	2
Q86XA0	124512		<li>L->V at 141: in dbSNP:rs12602772</li>									rs12602772	2
Q86XD5	9715		<li>A->T at 307: in dbSNP:rs17854363</li>									rs17854363	2
Q86XD8	93550		<li>K->T at 118: in dbSNP:rs17854567</li><li>H->Y at 358: in dbSNP:rs12267385</li>									<li>rs12267385</li><li>rs17854567</li>	2
Q86XE0	254122		<li>H->N at 155: in dbSNP:rs17854065</li><li>A->V at 282: in dbSNP:rs17855647</li><li>S->Y at 354: in dbSNP:rs17857243</li>									<li>rs17857243</li><li>rs17854065</li><li>rs17855647</li>	2
Q86XH1	79781		<li>K->R at 452: in dbSNP:rs10204742</li>									rs10204742	2
Q86XI2	54892		<li>T->M at 794: in dbSNP:rs10248318</li><li>E->D at 867: in dbSNP:rs3214000</li>									<li>rs3214000</li><li>rs10248318</li>	2
Q86XI6	79660		<li>G->E at 48: in dbSNP:rs3748140</li>									rs3748140	2
Q86XJ1	283431		<li>L->S at 461: in dbSNP:rs11834625</li><li>P->T at 500: in dbSNP:rs17030365</li>									<li>rs17030365</li><li>rs11834625</li>	2
Q86XK2	80204		<li>T->S at 126: in dbSNP:rs17036993</li>									rs17036993	2
Q86XK3	119392		<li>D->G at 81: in dbSNP:rs10786783</li>									rs10786783	2
Q86XK7	340547		<li>V->I at 147: in dbSNP:rs17254305</li>									rs17254305	2
Q86XL3	23141		<li>Y->H at 122: in dbSNP:rs1132375</li><li>Q->E at 148: in dbSNP:rs7968520</li><li>H->R at 720: in dbSNP:rs10781634</li>									<li>rs7968520</li><li>rs1132375</li><li>rs10781634</li>	2
Q86XM0	257062		<li>T->A at 504: in dbSNP:rs17854252</li><li>T->S at 743: in dbSNP:rs2305925</li>									<li>rs17854252</li><li>rs2305925</li>	2
Q86XN6	388561		<li>S->I at 122: in dbSNP:rs2708743</li><li>I->V at 168: in dbSNP:rs1984432</li><li>S->G at 528: in dbSNP:rs2708742</li><li>Q->E at 603: in dbSNP:rs2617726</li>									<li>rs2708742</li><li>rs2708743</li><li>rs2617726</li><li>rs1984432</li>	2
Q86XN7	80209		<li>V->A at 571: in dbSNP:rs3751379</li><li>S->T at 847: in dbSNP:rs17058955</li>									<li>rs17058955</li><li>rs3751379</li>	2
Q86XP0	283748		<li>R->W at 573: in dbSNP:rs17747505</li><li>A->G at 649: in dbSNP:rs17690899</li><li>R->G at 747: in dbSNP:rs2459692</li>									<li>rs17690899</li><li>rs17747505</li><li>rs2459692</li>	2
Q86XP6	200504		<li>S->N at 113: in dbSNP:rs1128272</li>									rs1128272	2
Q86XQ3	347732		<li>N->K at 204: in dbSNP:rs3896260</li>									rs3896260	2
Q86XR2	199786		<li>T->I at 229: in dbSNP:rs8107859</li><li>L->F at 543: in dbSNP:rs10401716</li><li>G->S at 603: in dbSNP:rs11666267</li>									<li>rs8107859</li><li>rs10401716</li><li>rs11666267</li>	2
Q86XR5	145270		<li>A->V at 22: in a colorectal cancer sample; somatic mutation</li>										2
Q86XT4	135892		<li>L->P at 8: in dbSNP:rs6980124</li>									rs6980124	2
Q86XU0	342926		<li>D->N at 56: in dbSNP:rs11881131</li><li>G->E at 254: in dbSNP:rs10425706</li>									<li>rs11881131</li><li>rs10425706</li>	2
Q86Y07	7444		<li>N->D at 50: in dbSNP rsrs34130684</li><li>I->M at 157: in dbSNP rsrs35966666</li><li>I->V at 167: in dbSNP:rs1051061</li><li>N->S at 211: in dbSNP:rs36081172</li>									<li>rs1051061</li><li>rs35966666</li><li>rs36081172</li><li>rs34130684</li>	2
Q86Y22	91522		<li>T->A at 287: in dbSNP:rs890802</li>									rs890802	2
Q86Y25	30832		<li>E->K at 250: in dbSNP:rs17855823</li><li>F->L at 546: in dbSNP:rs1445846</li><li>E->K at 553: in dbSNP:rs1445845</li>									<li>rs1445845</li><li>rs1445846</li><li>rs17855823</li>	2
Q86Y26	256646		<li>L->P at 22: in dbSNP:rs374230</li><li>T->M at 781: in dbSNP:rs16959028</li><li>V->E at 785: in dbSNP:rs17236868</li><li>T->N at 973: in dbSNP:rs2279683</li><li>P->R at 985: in dbSNP:rs2279684</li><li>R->H at 1113: in dbSNP:rs2279685</li>									<li>rs2279683</li><li>rs2279684</li><li>rs17236868</li><li>rs374230</li><li>rs2279685</li><li>rs16959028</li>	2
Q86Y33	166979		<li>T->P at 8: in dbSNP:rs173042</li><li>E->K at 17: in dbSNP:rs423074</li><li>T->S at 97: in dbSNP:rs34132993</li><li>C->R at 121: in dbSNP:rs1021580</li><li>A->S at 496: in dbSNP:rs3104230</li><li>R->W at 503: in dbSNP:rs444527</li>									<li>rs3104230</li><li>rs423074</li><li>rs34132993</li><li>rs444527</li><li>rs173042</li><li>rs1021580</li>	2
Q86Y46	319101		<li>V->M at 61: in dbSNP:rs35417182</li><li>P->L at 96: in dbSNP:rs659436</li><li>R->H at 212: in a colorectal cancer sample; somatic mutation</li><li>T->M at 248: in a colorectal cancer sample; somatic mutation</li><li>E->G at 365: in dbSNP:rs607426</li>									<li>rs659436</li><li>rs607426</li><li>rs35417182</li>	2
Q86Y82	23673		<li>P->R at 88: in a breast cancer sample; somatic mutation</li>										2
Q86Y91			<li>Q->R at 518: in dbSNP:rs17546822</li>									rs17546822	2
Q86YA3	55345		<li>N->S at 410: in dbSNP:rs7696816</li><li>E->G at 451: in dbSNP:rs17854334</li><li>T->I at 978: in dbSNP:rs17669218</li>									<li>rs17854334</li><li>rs7696816</li><li>rs17669218</li>	2
Q86YB7	55268		<li>N->D at 119: in dbSNP:rs17854314</li>									rs17854314	2
Q86YB8	56605		<li>D->V at 129: in dbSNP:rs2477599</li><li>H->Q at 465: in dbSNP:rs1055851</li>									<li>rs1055851</li><li>rs2477599</li>	2
Q86YC2	79728		<li>I->V at 309: in dbSNP:rs3809683</li><li>P->S at 864: in dbSNP rsrs45568339</li>									<li>rs3809683</li><li>rs45568339</li>	2
Q86YD3	84866		<li>W->C at 25: in dbSNP:rs35915434</li><li>Q->R at 342: in dbSNP:rs12289253</li>									<li>rs12289253</li><li>rs35915434</li>	2
Q86YE8	126231		<li>G->A at 166: in dbSNP:rs3752365</li>									rs3752365	2
Q86YF9	22873		<li>T->M at 172: in dbSNP:rs9561921</li><li>M->L at 664: in dbSNP:rs34303958</li><li>P->S at 736: in dbSNP:rs11070136</li>									<li>rs9561921</li><li>rs11070136</li><li>rs34303958</li>	2
Q86YH2			<li>A->E at 256: in dbSNP:rs2236729</li><li>V->G at 522: in dbSNP:rs12484816</li>									<li>rs12484816</li><li>rs2236729</li>	2
Q86YH6	57107		<li>F->L at 3: in dbSNP:rs3734675</li>									rs3734675	2
Q86YR6			<li>S->G at 113: in dbSNP:rs6517869</li><li>V->I at 135: in dbSNP:rs6517870</li>									<li>rs6517869</li><li>rs6517870</li>	2
Q86YR7	23101		<li>T->M at 159: in dbSNP:rs12632177</li><li>L->P at 254: in a colorectal cancer sample; somatic mutation</li><li>N->S at 277: in dbSNP:rs13082605</li><li>I->L at 359: in dbSNP:rs7639705</li><li>Q->L at 378: in dbSNP:rs2293203</li><li>F->S at 589: in dbSNP:rs3732602</li><li>R->H at 622: in a colorectal cancer sample; somatic mutation</li><li>F->L at 772: in dbSNP:rs9826325</li><li>A->T at 902: in dbSNP:rs6804951</li><li>M->T at 1015: in dbSNP:rs35070271</li><li>L->F at 1039: in a breast cancer sample; somatic mutation</li>									<li>rs6804951</li><li>rs13082605</li><li>rs2293203</li><li>rs35070271</li><li>rs9826325</li><li>rs7639705</li><li>rs12632177</li><li>rs3732602</li>	2
Q86YV5			<li>L->I at 122</li><li>R->G at 137</li><li>V->I at 139</li><li>Q->R at 404</li><li>L->P at 569</li><li>C->S at 578</li><li>P->A at 595</li><li>P->T at 662</li><li>P->L at 814</li><li>H->R at 851</li><li>S->L at 1003</li><li>V->M at 1041</li><li>T->A at 1113</li><li>R->H at 1315</li>										2
Q86YV6	340156		<li>E->Q at 30: in a breast infiltrating ductal carcinoma sample; somatic mutation</li><li>E->A at 39: in dbSNP:rs7770402</li><li>G->R at 50: in dbSNP:rs2296356</li><li>A->S at 78: in a breast infiltrating ductal carcinoma sample; somatic mutation</li><li>T->M at 126: in dbSNP:rs34953021</li><li>H->L at 217: in a lung squamous cell carcinoma sample; somatic mutation</li><li>C->Y at 318: in dbSNP rsrs35609073</li><li>Q->R at 373: in dbSNP rsrs35211631</li>									<li>rs35609073</li><li>rs34953021</li><li>rs35211631</li><li>rs7770402</li><li>rs2296356</li>	2
Q86YW0	89869		<li>S->L at 500: in dbSNP:rs10505830</li>									rs10505830	2
Q86YW5	340205		<li>L->V at 6: in a breast cancer sample; somatic mutation</li><li>H->P at 231: in dbSNP:rs34254490</li>									rs34254490	2
Q86YW9	116931		<li>Q->P at 401: in dbSNP:rs17290219</li><li>E->K at 464: in dbSNP:rs3108728</li><li>Q->H at 903: in dbSNP:rs2131100</li><li>R->Q at 1210: in dbSNP:rs3732765</li><li>R->Q at 1698: in dbSNP:rs2276761</li>									<li>rs3108728</li><li>rs2131100</li><li>rs3732765</li><li>rs2276761</li><li>rs17290219</li>	2
Q86YZ3	388697		<li>R->H at 85: in dbSNP:rs11204937</li><li>G->D at 167: in dbSNP:rs12741518</li><li>E->G at 473: in dbSNP:rs6587648</li><li>G->R at 492: in dbSNP:rs6587647</li><li>R->Q at 664: in dbSNP:rs7520249</li><li>S->T at 799: in dbSNP:rs6662450</li>									<li>rs6662450</li><li>rs11204937</li><li>rs7520249</li><li>rs6587647</li><li>rs6587648</li><li>rs12741518</li>	2
Q86Z02	204851		<li>Q->R at 6: in dbSNP:rs35324789</li><li>G->C at 310: in dbSNP rsrs34335651</li><li>L->V at 1165</li>									<li>rs35324789</li><li>rs34335651</li>	2
Q86Z14	152831		<li>R->Q at 728: in dbSNP:rs17618244</li><li>A->V at 747: in dbSNP:rs35372803</li><li>Y->H at 906: in dbSNP:rs17618262</li><li>Q->K at 1020: in dbSNP:rs4975017</li>									<li>rs4975017</li><li>rs35372803</li><li>rs17618262</li><li>rs17618244</li>	2
Q86Z20	202243		<li>V->M at 13: in dbSNP:rs10471774</li>									rs10471774	2
Q8HWS3	222546		<li>E->K at 6: in dbSNP:rs17853900</li><li>T->A at 688: in dbSNP:rs17857184</li><li>S->N at 743: in dbSNP:rs582803</li>									<li>rs582803</li><li>rs17857184</li><li>rs17853900</li>	2
Q8IU54	282618		<li>N->D at 188: in dbSNP:rs30461</li>									rs30461	2
Q8IU68	147138		<li>N->I at 306: in dbSNP:rs7208422</li><li>V->I at 501: in dbSNP:rs11651675</li>									<li>rs11651675</li><li>rs7208422</li>	2
Q8IU80	164656		<li>R->H at 223: in a breast cancer sample; somatic mutation</li><li>R->S at 234: in a breast cancer sample; somatic mutation</li><li>K->E at 253: in dbSNP:rs2235324</li><li>E->K at 262: in dbSNP:rs2235324</li><li>S->L at 288: in dbSNP:rs5995378</li><li>G->R at 442: in IRIDA, MIM: 206200</li><li>D->N at 521: in IRIDA, MIM: 206200</li><li>V->A at 736: in dbSNP:rs855791, MIM: 206200</li><li>G->D at 763: in dbSNP:rs11703011, MIM: 206200</li><li>R->C at 774: in IRIDA, MIM: 206200</li>								Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]	<li>rs5995378</li><li>rs855791</li><li>rs11703011</li><li>rs2235324</li>	2
Q8IU81	26145		<li>M->I at 24: in dbSNP:rs11550349</li>									rs11550349	2
Q8IU89	204219		<li>G->R at 370: in dbSNP:rs2439928</li>									rs2439928	2
Q8IUA0	90199		<li>M->T at 96: in dbSNP:rs2272955</li><li>N->S at 137: in dbSNP:rs2250860</li>									<li>rs2250860</li><li>rs2272955</li>	2
Q8IUA7	10350		<li>R->H at 353: in dbSNP:rs1860447</li><li>N->S at 785: in dbSNP:rs17684521</li><li>K->T at 1306: in dbSNP:rs2302294</li><li>G->S at 1356: in dbSNP:rs9916254</li>									<li>rs17684521</li><li>rs1860447</li><li>rs2302294</li><li>rs9916254</li>	2
Q8IUB2	140686		<li>H->D at 36: in dbSNP:rs6032538</li>									rs6032538	2
Q8IUB3	280664		<li>L->P at 8: in dbSNP:rs232729</li>									rs232729	2
Q8IUC1	337880		<li>C->S at 111: in dbSNP:rs9636845</li>									rs9636845	2
Q8IUC8	114805		<li>E->D at 59: in dbSNP:rs34086479</li>									rs34086479	2
Q8IUD2	23085		<li>S->G at 50: in dbSNP:rs35037408</li><li>T->A at 1032: in dbSNP:rs12319376</li>									<li>rs12319376</li><li>rs35037408</li>	2
Q8IUD6	84282		<li>H->Q at 71: in dbSNP:rs7225888</li><li>S->P at 108: in dbSNP:rs7211440</li><li>R->H at 286: in RNF135-related overgrowth syndrome</li>									<li>rs7225888</li><li>rs7211440</li>	2
Q8IUE1	90316		<li>V->I at 197: in dbSNP:rs2290380</li>									rs2290380	2
Q8IUF8	84864		<li>A->P at 17: in dbSNP:rs35391656</li><li>A->T at 386: in dbSNP:rs2172257</li>									<li>rs2172257</li><li>rs35391656</li>	2
Q8IUG1	81850		<li>C->S at 34</li><li>Missing  at 41-50: in allele KAP1.1</li><li>Missing  at 53-88: in allele KAP1.9</li><li>G->R at 92</li>							<li>Q8IUG1</li><li>Q07627</li>			2
Q8IUG5	84700		<li>G->V at 234: in lung small cell carcinoma; somatic mutation</li><li>K->N at 347: in lung small cell carcinoma; somatic mutation</li><li>R->Q at 379: in lung small cell carcinoma; somatic mutation</li><li>W->C at 389: in lung adenocarcinoma; somatic mutation</li><li>T->M at 590: in lung large cell carcinoma; somatic mutation</li><li>R->W at 661: in lung adenocarcinoma; somatic mutation: in dbSNP rsrs5761170</li><li>A->G at 835: in lung squamous cell carcinoma; somatic mutation</li><li>R->L at 1095: in lung adenocarcinoma; somatic mutation</li><li>R->Q at 1195: in lung small cell carcinoma; somatic mutation</li><li>P->Q at 1238: in lung large cell carcinoma; somatic mutation</li><li>P->T at 1238: in lung adenocarcinoma; somatic mutation</li><li>E->K at 1708: in lung adenocarcinoma; somatic mutation</li><li>E->D at 1715: in lung adenocarcinoma; somatic mutation</li><li>A->E at 1970: in lung small cell carcinoma; somatic mutation</li><li>G->C at 2295: in lung small cell carcinoma; somatic mutation</li><li>Q->R at 2347: in dbSNP:rs2236005</li><li>R->H at 2381: in lung adenocarcinoma; somatic mutation</li><li>D->E at 2554: in lung large cell carcinoma; somatic mutation</li>									<li>rs5761170</li><li>rs2236005</li>	2
Q8IUH4	54503		<li>R->K at 99: in dbSNP:rs2271001</li>									rs2271001	2
Q8IUH8			<li>R->Q at 123: in dbSNP:rs17763658</li><li>H->R at 303: in dbSNP:rs242944</li><li>R->P at 461: in dbSNP:rs12185233</li><li>I->V at 471: in dbSNP:rs12185268</li><li>S->P at 601: in dbSNP:rs12373123</li><li>G->R at 620: in dbSNP:rs12373139</li><li>P->R at 643: in dbSNP:rs12373142</li>									<li>rs12373142</li><li>rs12185233</li><li>rs12373123</li><li>rs242944</li><li>rs17763658</li><li>rs12185268</li><li>rs12373139</li>	2
Q8IUI8	51379		<li>V->M at 202: in dbSNP:rs3764418</li><li>L->P at 389: in dbSNP:rs11867457</li>									<li>rs11867457</li><li>rs3764418</li>	2
Q8IUN9	10462		<li>C->R at 35: in dbSNP:rs90951</li><li>R->K at 73: in dbSNP:rs16956478</li><li>T->M at 100: in dbSNP:rs35318160</li><li>A->G at 203: in dbSNP:rs35101468</li>									<li>rs16956478</li><li>rs35318160</li><li>rs35101468</li><li>rs90951</li>	2
Q8IUR0	126003		<li>S->A at 52: in dbSNP:rs6952</li>									rs6952	2
Q8IUR5	83857		<li>L->V at 706: in dbSNP:rs17854190</li>									rs17854190	2
Q8IUR6	153222		<li>T->A at 483: in dbSNP:rs17854147</li>									rs17854147	2
Q8IUS5	253152		<li>Y->F at 321: in dbSNP:rs17854127</li>									rs17854127	2
Q8IUX1	55863		<li>A->V at 198: in dbSNP:rs17850847</li>									rs17850847	2
Q8IUX4	200316		<li>R->P at 48: in dbSNP:rs35053197</li><li>Q->L at 61: in dbSNP:rs2076109</li><li>P->L at 97: in dbSNP:rs2076110</li><li>A->S at 108: in dbSNP:rs2020390</li><li>A->T at 178: in dbSNP rsrs34182094</li><li>V->I at 231: in dbSNP:rs2076101</li><li>Y->C at 307: in dbSNP:rs12157816</li>									<li>rs35053197</li><li>rs2076109</li><li>rs12157816</li><li>rs2076110</li><li>rs34182094</li><li>rs2020390</li><li>rs2076101</li>	2
Q8IUX7	165		<li>P->T at 273: in dbSNP:rs2537188</li><li>D->E at 648: in dbSNP:rs11770649</li><li>P->L at 1001: in dbSNP:rs4724285</li><li>K->E at 1133: in dbSNP:rs13928</li><li>V->I at 1148: in dbSNP:rs13898</li>									<li>rs11770649</li><li>rs2537188</li><li>rs4724285</li><li>rs13898</li><li>rs13928</li>	2
Q8IUX8	25975		<li>E->K at 66: in dbSNP:rs16979010</li><li>R->C at 164: in dbSNP:rs34613284</li><li>L->F at 508: in dbSNP:rs34550481</li><li>D->N at 535: in dbSNP:rs16979033</li>									<li>rs34613284</li><li>rs16979033</li><li>rs16979010</li><li>rs34550481</li>	2
Q8IUZ5	85007		<li>H->R at 126: in dbSNP:rs7707147</li>									rs7707147	2
Q8IV01	91683		<li>N->H at 170: in dbSNP:rs11227664</li>									rs11227664	2
Q8IV03	286343		<li>Missing at 47-49</li><li>S->G at 62: in dbSNP:rs3750501</li>									rs3750501	2
Q8IV13	79616		<li>H->Y at 234: in dbSNP:rs13362036</li>									rs13362036	2
Q8IV16	338328		<li>C->F at 14: in dbSNP:rs11538389</li><li>G->R at 56: in polymorphism; no discernible effect on the binding of LPL, chylomicrons or APOA5</li>			binding	GO:0005488	chylomicrons	GO:0042627	<li>P49923</li><li>P11602</li><li>Q6Q788</li><li>P06858</li><li>P49060</li><li>P55031</li><li>P11151</li><li>Q06000</li><li>P11152</li><li>P11153</li><li>Q29524</li><li>O46647</li>		rs11538389	2
Q8IV20	144811		<li>I->V at 254: in dbSNP:rs3764147</li>									rs3764147	2
Q8IV32	64925		<li>Q->L at 317: in dbSNP:rs4955419</li><li>R->W at 339: in dbSNP:rs4955418</li>									<li>rs4955419</li><li>rs4955418</li>	2
Q8IV33	285600		<li>K->E at 46: in dbSNP:rs2044909</li>									rs2044909	2
Q8IV35	151790		<li>R->H at 10: in a colorectal cancer sample; somatic mutation</li><li>L->P at 651: in dbSNP:rs13060964</li>									rs13060964	2
Q8IV42	118672		<li>G->R at 206: in dbSNP:rs3736582</li>									rs3736582	2
Q8IV45	222643		<li>R->G at 432: in dbSNP:rs742493</li>									rs742493	2
Q8IV48	90459		<li>L->P at 16: in dbSNP:rs2288672</li>									rs2288672	2
Q8IV50	256586		<li>I->V at 107: in dbSNP:rs3751593</li><li>S->F at 164: in dbSNP:rs7168775</li>									<li>rs7168775</li><li>rs3751593</li>	2
Q8IV53	79958		<li>A->T at 23: in dbSNP:rs10416003</li><li>R->C at 489: in dbSNP:rs35001260</li><li>A->V at 542: in dbSNP:rs35810378</li>									<li>rs35810378</li><li>rs35001260</li><li>rs10416003</li>	2
Q8IV61	25780		<li>T->A at 393: in dbSNP:rs13388394</li>									rs13388394	2
Q8IV63	51231		<li>S->F at 59: in dbSNP:rs2033262</li><li>P->T at 105: in dbSNP:rs11547882</li><li>S->P at 170: in dbSNP:rs11547881</li><li>F->L at 171: in dbSNP:rs11547883</li><li>T->A at 188: in dbSNP:rs11879620</li><li>S->L at 268: in dbSNP:rs10410075</li><li>C->Y at 288: in dbSNP:rs10409482</li><li>H->L at 304: in dbSNP:rs35261919</li><li>R->C at 370: in dbSNP rsrs35331034</li><li>S->G at 371: in dbSNP rsrs56407496</li>									<li>rs10410075</li><li>rs11547883</li><li>rs10409482</li><li>rs11547881</li><li>rs56407496</li><li>rs11547882</li><li>rs35331034</li><li>rs35261919</li><li>rs2033262</li><li>rs11879620</li>	2
Q8IV76	139135		<li>Q->E at 213: in dbSNP:rs5924658</li>									rs5924658	2
Q8IVB4	285195		<li>I->V at 540: in dbSNP:rs16853300</li><li>I->V at 589: in dbSNP:rs2289491</li>									<li>rs2289491</li><li>rs16853300</li>	2
Q8IVC4	201514		<li>P->S at 142: in dbSNP:rs11668789</li><li>T->A at 301: in dbSNP:rs7257872</li>									<li>rs11668789</li><li>rs7257872</li>	2
Q8IVD9	23386		<li>T->P at 3: in dbSNP:rs307007</li><li>R->C at 235: in dbSNP:rs11550029</li>									<li>rs307007</li><li>rs11550029</li>	2
Q8IVE3	130271		<li>P->T at 481: in dbSNP:rs17031297</li><li>R->K at 1069: in dbSNP:rs2278358</li><li>N->S at 1217: in dbSNP:rs17031368</li>									<li>rs2278358</li><li>rs17031297</li><li>rs17031368</li>	2
Q8IVF2	113146		<li>T->A at 525: in dbSNP:rs2278607</li><li>V->M at 1266: in dbSNP:rs11850930</li><li>L->V at 1470: in dbSNP:rs12890949</li><li>M->V at 2107: in dbSNP:rs11846918</li><li>S->R at 2115: in dbSNP:rs2582514</li><li>K->R at 2410: in dbSNP:rs11845746</li><li>D->E at 2429: in dbSNP:rs11160826</li><li>L->V at 2430: in dbSNP:rs2819426</li><li>V->A at 2616: in dbSNP:rs4264326</li><li>V->L at 3796: in dbSNP:rs12890949</li><li>M->V at 3961: in dbSNP:rs10141053</li><li>I->M at 4071: in dbSNP:rs2582511</li><li>F->L at 4138: in dbSNP:rs2582505</li><li>K->N at 4232: in dbSNP:rs2819423</li><li>V->A at 4278: in dbSNP:rs2819422</li><li>M->L at 4536: in dbSNP:rs9672139</li><li>T->A at 4664: in dbSNP:rs4465542</li><li>L->M at 5028: in dbSNP:rs9672139</li><li>G->R at 5072: in dbSNP:rs2819420</li><li>Y->D at 5184: in dbSNP:rs2819419</li><li>P->A at 5397: in dbSNP:rs3742935</li><li>G->R at 5564: in dbSNP:rs2819420</li><li>T->M at 5732: in dbSNP:rs748358</li>									<li>rs2819419</li><li>rs11845746</li><li>rs2278607</li><li>rs2819426</li><li>rs4264326</li><li>rs10141053</li><li>rs11846918</li><li>rs11850930</li><li>rs2819423</li><li>rs748358</li><li>rs2819422</li><li>rs2819420</li><li>rs11160826</li><li>rs2582505</li><li>rs9672139</li><li>rs4465542</li><li>rs2582514</li><li>rs12890949</li><li>rs3742935</li><li>rs2582511</li>	2
Q8IVF4			<li>V->I at 480: in dbSNP:rs10846559</li>									rs10846559	2
Q8IVF5	26230		<li>R->H at 332: in dbSNP:rs931312</li><li>R->H at 913: in dbSNP:rs7770537</li><li>P->S at 1089: in dbSNP:rs4259257</li><li>R->C at 1101: in dbSNP:rs11751128</li><li>D->E at 1572: in dbSNP:rs1571767</li>									<li>rs931312</li><li>rs11751128</li><li>rs4259257</li><li>rs7770537</li><li>rs1571767</li>	2
Q8IVG5	219285		<li>V->I at 266: in dbSNP:rs10488532</li><li>F->S at 289: in dbSNP:rs2073793</li><li>G->A at 1137: in dbSNP:rs17165111</li><li>N->T at 1516: in dbSNP:rs10282508</li>									<li>rs10488532</li><li>rs2073793</li><li>rs17165111</li><li>rs10282508</li>	2
Q8IVH2	116113		<li>A->T at 464: in a breast cancer sample; somatic mutation</li>										2
Q8IVH4	166785		<li>L->P at 89: in MMAA, MIM: 251100</li><li>R->Q at 145: in MMAA, MIM: 251100</li><li>Y->C at 207: in MMAA, MIM: 251100</li><li>G->E at 218: in MMAA, MIM: 251100</li><li>R->G at 359: in MMAA, MIM: 251100</li><li>R->Q at 359: in MMAA, MIM: 251100</li><li>Q->H at 363: in dbSNP:rs2270655, MIM: 251100</li>							<li>Q8IVH4</li><li>Q5MFW3</li>	Methylmalonic aciduria type cblA (MMAA) [MIM:251100]	rs2270655	2
Q8IVI9	115677		<li>E->G at 473: in dbSNP:rs479661</li>									rs479661	2
Q8IVJ8	339883		<li>H->Y at 107: in dbSNP:rs17266511</li>									rs17266511	2
Q8IVL0	89795		<li>A->T at 45: in dbSNP:rs10735309</li><li>S->W at 210: in dbSNP:rs34195711</li><li>E->K at 2200: in a patient with Sezary syndrome</li>									<li>rs34195711</li><li>rs10735309</li>	2
Q8IVL1	89797		<li>K->R at 109: in dbSNP:rs6483617</li><li>Q->H at 491: in dbSNP:rs16937251</li><li>E->D at 1041: in dbSNP:rs3802799</li><li>A->P at 1077: in dbSNP:rs3802800</li><li>V->I at 2374: in dbSNP:rs35891966</li>									<li>rs35891966</li><li>rs3802799</li><li>rs6483617</li><li>rs16937251</li><li>rs3802800</li>	2
Q8IVL5	55214		<li>D->N at 613: in a breast cancer sample; somatic mutation</li>										2
Q8IVL6	10536		<li>T->A at 301: in dbSNP:rs10744716</li><li>R->C at 304: in dbSNP:rs35359746</li><li>G->E at 385: in dbSNP:rs1047771</li><li>I->T at 685: in dbSNP:rs1129649</li><li>M->T at 705: in dbSNP:rs3213431</li>									<li>rs1047771</li><li>rs10744716</li><li>rs3213431</li><li>rs1129649</li><li>rs35359746</li>	2
Q8IVL8	130749		<li>M->I at 85: in dbSNP:rs13420911</li><li>S->R at 134: in dbSNP:rs11903403</li><li>K->N at 273: in a colorectal cancer sample; somatic mutation</li>									<li>rs11903403</li><li>rs13420911</li>	2
Q8IVM0	152137		<li>L->F at 121: in dbSNP:rs35380043</li><li>M->T at 156: in dbSNP:rs293813</li>									<li>rs293813</li><li>rs35380043</li>	2
Q8IVM7			<li>R->Q at 154: in dbSNP:rs9588286</li>									rs9588286	2
Q8IVM8	114571		<li>A->V at 393: in a breast cancer sample; somatic mutation</li><li>M->V at 487: in a breast cancer sample; somatic mutation</li><li>N->K at 521: in a colorectal cancer sample; somatic mutation</li>										2
Q8IVN8	157869		<li>W->R at 186: in dbSNP:rs2291219</li>									rs2291219	2
Q8IVS2	27349		<li>A->G at 303: in dbSNP:rs13815</li>									rs13815	2
Q8IVS8	132158		<li>L->V at 170: in dbSNP:rs35130772</li><li>T->I at 394: in dbSNP:rs9813489</li>									<li>rs35130772</li><li>rs9813489</li>	2
Q8IVT2	126353		<li>S->G at 156: in dbSNP:rs3746173</li><li>K->R at 232: in dbSNP:rs3746175</li><li>S->N at 269: in dbSNP:rs35384259</li><li>E->G at 653: in dbSNP:rs8107847</li>									<li>rs35384259</li><li>rs3746173</li><li>rs8107847</li><li>rs3746175</li>	2
Q8IVT5	8844		<li>S->P at 225</li><li>V->A at 357</li><li>Q->H at 661</li>										2
Q8IVU3	55008		<li>M->T at 123: in dbSNP:rs7677237</li><li>C->R at 199: in dbSNP:rs12510688</li><li>F->L at 343: in dbSNP:rs17014118</li><li>T->I at 614: in dbSNP:rs6532068</li>									<li>rs6532068</li><li>rs12510688</li><li>rs17014118</li><li>rs7677237</li>	2
Q8IVV8	128414		<li>K->Q at 91: in dbSNP:rs1129659</li><li>A->D at 131: in dbSNP:rs2236194</li><li>C->G at 151: in dbSNP:rs872808</li><li>E->D at 173: in dbSNP:rs11556207</li>									<li>rs872808</li><li>rs1129659</li><li>rs2236194</li><li>rs11556207</li>	2
Q8IVW1	51326		<li>L->I at 170</li>										2
Q8IVW4	51265		<li>M->T at 394: in dbSNP rsrs35687772</li>									rs35687772	2
Q8IVY1	149466		<li>S->L at 12: in dbSNP:rs35465732</li>									rs35465732	2
Q8IVY7			<li>R->Q at 87: in a colorectal cancer sample; somatic mutation</li>										2
Q8IW00	196740		<li>F->S at 68: in dbSNP:rs13088</li><li>R->H at 100: in a colorectal cancer sample; somatic mutation</li>									rs13088	2
Q8IW19	200558		<li>I->V at 100: in dbSNP:rs11902811</li><li>L->F at 336: in dbSNP:rs13404469</li>									<li>rs11902811</li><li>rs13404469</li>	2
Q8IW45	55739		<li>K->E at 140: in dbSNP:rs3742191</li><li>V->I at 149: in dbSNP:rs3742192</li><li>P->T at 152: in dbSNP:rs1044112</li>									<li>rs3742192</li><li>rs3742191</li><li>rs1044112</li>	2
Q8IW52	139065		<li>V->I at 206: in a colorectal cancer sample; somatic mutation</li>										2
Q8IW75	145264		<li>Q->K at 142: in dbSNP:rs17090972</li><li>I->V at 394: in dbSNP:rs34519784</li>									<li>rs34519784</li><li>rs17090972</li>	2
Q8IW93	128272		<li>G->R at 163: in dbSNP:rs221058</li><li>E->Q at 238: in dbSNP:rs221057</li>									<li>rs221058</li><li>rs221057</li>	2
Q8IWA5	57153		<li>R->Q at 154: in dbSNP:rs2288904</li>									rs2288904	2
Q8IWA6	160777		<li>I->V at 46: in dbSNP:rs1064319</li><li>T->A at 115: in dbSNP:rs2519540</li><li>V->I at 393: in dbSNP:rs16949292</li>									<li>rs2519540</li><li>rs1064319</li><li>rs16949292</li>	2
Q8IWB6	56155		<li>D->G at 88: in dbSNP rsrs56292204</li><li>K->E at 321: in a gastric adenocarcinoma sample; somatic mutation</li><li>S->C at 443</li><li>I->M at 559: in dbSNP rsrs35927726</li>									<li>rs56292204</li><li>rs35927726</li>	2
Q8IWC1	79649		<li>E->A at 502: in dbSNP:rs1055497</li><li>Q->R at 628: in dbSNP:rs2273221</li>									<li>rs2273221</li><li>rs1055497</li>	2
Q8IWD4	150275		<li>R->S at 147: in dbSNP:rs13057011</li><li>S->N at 272: in dbSNP:rs9613680</li>									<li>rs9613680</li><li>rs13057011</li>	2
Q8IWD5	162387		<li>R->H at 486: in dbSNP:rs2242373</li>									rs2242373	2
Q8IWE2	92689		<li>S->L at 40: in dbSNP:rs34137542</li><li>G->R at 84: in dbSNP:rs11096964</li><li>L->P at 116: in dbSNP:rs11944159</li><li>P->L at 201: in dbSNP:rs430296</li><li>R->H at 367: in dbSNP:rs2306923</li><li>V->I at 443: in dbSNP:rs17429619</li><li>S->L at 446: in dbSNP:rs36058104</li>									<li>rs17429619</li><li>rs2306923</li><li>rs34137542</li><li>rs11944159</li><li>rs36058104</li><li>rs11096964</li><li>rs430296</li>	2
Q8IWE5	23207		<li>I->T at 32: in dbSNP:rs12091750</li>									rs12091750	2
Q8IWF2	80020		<li>F->L at 179: in dbSNP:rs760718</li><li>N->S at 308: in dbSNP:rs2277841</li><li>K->R at 374: in dbSNP:rs35813894</li><li>E->D at 637: in dbSNP:rs35748020</li>									<li>rs2277841</li><li>rs760718</li><li>rs35813894</li><li>rs35748020</li>	2
Q8IWF9	220047		<li>T->A at 49: in dbSNP:rs12362209</li>									rs12362209	2
Q8IWI9			<li>T->A at 338: in dbSNP:rs3803348</li><li>S->T at 716: in dbSNP:rs2178004</li><li>C->R at 1270: in dbSNP:rs17677811</li><li>P->A at 1572: in dbSNP:rs17677991</li>									<li>rs2178004</li><li>rs3803348</li><li>rs17677811</li><li>rs17677991</li>	2
Q8IWJ2	9648		<li>Q->E at 1033: in dbSNP:rs2718698</li><li>R->G at 1197: in dbSNP:rs1061202</li>									<li>rs2718698</li><li>rs1061202</li>	2
Q8IWK6	166647		<li>V->M at 1043: in dbSNP:rs9002</li><li>V->G at 1166: in dbSNP:rs3814416</li>									<li>rs9002</li><li>rs3814416</li>	2
Q8IWL1	6436		<li>N->T at 9: in allele 1A, allele 1A</li><li>V->L at 50</li><li>A->P at 91: in allele 1A; dbSNP:rs17886395</li><li>Q->K at 223: in allele 1A</li>										2
Q8IWL2	6435		<li>N->T at 9: in dbSNP:rs1059046</li><li>V->A at 19: in allele 6A and allele 6A</li><li>L->V at 50: in allele 6A</li><li>R->W at 219: in susceptibility to idiopathic pulmonary fibrosis; allele 6A</li><li>Q->K at 223: in dbSNP:rs1965708</li>									<li>rs1965708</li><li>rs1059046</li>	2
Q8IWL3	150274		<li>Y->C at 73: in dbSNP:rs17886090</li><li>I->M at 163: in dbSNP:rs17884212</li>									<li>rs17884212</li><li>rs17886090</li>	2
Q8IWL8	246744		<li>Q->R at 7</li>										2
Q8IWN7			<li>P->A at 44</li><li>R->C at 56</li><li>T->S at 112</li><li>R->H at 136</li><li>A->V at 487</li><li>A->T at 624</li><li>P->L at 792</li><li>E->K at 795</li><li>R->W at 860</li><li>W->R at 1146</li><li>A->S at 1285: in allele RP1L1-3</li><li>G->A at 1319: in allele RP1L1-3</li><li>E->G at 1324: in allele RP1L1-3</li><li>Missing  at 1327-1406: in allele RP1L1-1</li><li>TE->VI at 1327-1328: in allele RP1L1-3</li><li>G->R at 1335: in allele RP1L1-2 and allele RP1L1-3</li><li>Missing  at 1343-1406: in allele RP1L1-2</li><li>Missing  at 1359-1406: in allele RP1L1-3</li><li>Missing  at 1375-1406: in allele RP1L1-4</li><li>Missing  at 1391-1406: in allele RP1L1-5</li><li>G->E at 1420: in allele RP1L1-1 and allele RP1L1-2</li><li>S->R at 1547: in dbSNP:rs4840498</li><li>A->V at 1563</li><li>P->R at 1575</li><li>S->L at 1585</li><li>K->KK at 1658</li><li>A->V at 1789</li><li>G->D at 1896</li><li>Missing at 1942-1948</li><li>D->V at 1969</li><li>E->A at 2026</li><li>A->T at 2034</li><li>G->V at 2149</li><li>Q->H at 2168</li><li>E->K at 2220</li><li>E->K at 2251: in dbSNP:rs4354268</li><li>P->L at 2279</li><li>G->E at 2322</li><li>G->R at 2365</li><li>H->R at 2415</li>							Q8IWN7		<li>rs4354268</li><li>rs4840498</li>	2
Q8IWP9	25901		<li>S->Y at 42: in dbSNP:rs34538642</li><li>P->L at 82: in dbSNP:rs2273510</li>									<li>rs2273510</li><li>rs34538642</li>	2
Q8IWR0	29066		<li>N->S at 3: in dbSNP:rs1429077</li><li>H->R at 57: in dbSNP:rs16958654</li>									<li>rs1429077</li><li>rs16958654</li>	2
Q8IWS0	84295		<li>C->Y at 45: in BFLS: in dbSNP rsrs28935179, MIM: 301900</li><li>C->F at 99: in BFLS, MIM: 301900</li><li>H->R at 229: in BFLS, MIM: 301900</li><li>K->E at 234: in BFLS, MIM: 301900</li><li>R->G at 257: in BFLS, MIM: 301900</li>								Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]	rs28935179	2
Q8IWT1	6330		<li>L->F at 179: in LQT10; increase in late sodium current, MIM: 611819</li>								Long QT syndrome type 10 (LQT10) [MIM:611819]		2
Q8IWT3	23113		<li>H->P at 2058: in dbSNP:rs2273709</li><li>T->I at 2180: in dbSNP:rs11962520</li>									<li>rs11962520</li><li>rs2273709</li>	2
Q8IWU2	22853		<li>P->A at 30: in dbSNP:rs3735252</li><li>D->H at 484: in a lung large cell carcinoma sample; somatic mutation</li><li>V->I at 595: in dbSNP rsrs34461195</li><li>V->M at 624: in dbSNP rsrs34628253</li><li>I->T at 693: in dbSNP rsrs56204700</li><li>L->M at 780: in dbSNP:rs11765552</li><li>V->F at 849: in dbSNP rsrs56196840</li><li>A->T at 862: in dbSNP rsrs34005293</li><li>S->R at 916: in dbSNP rsrs55867257</li><li>D->N at 1061: in dbSNP:rs3801295</li><li>D->N at 1220: in dbSNP:rs35912712</li><li>A->G at 1341: in dbSNP rsrs56343792</li><li>S->N at 1401: in dbSNP rsrs45488394</li>									<li>rs35912712</li><li>rs3735252</li><li>rs45488394</li><li>rs55867257</li><li>rs34461195</li><li>rs56343792</li><li>rs34005293</li><li>rs56204700</li><li>rs11765552</li><li>rs3801295</li><li>rs56196840</li><li>rs34628253</li>	2
Q8IWU4	169026		<li>R->Q at 325: in dbSNP:rs16889462</li><li>R->W at 325: in dbSNP:rs13266634</li>									<li>rs16889462</li><li>rs13266634</li>	2
Q8IWU9	121278		<li>P->S at 206: may be associated with susceptibility to bipolar affective disorder; decreases solubility; decreases thermal stability; catalytic activity as the wild type; dbSNP:rs17110563</li><li>R->H at 441: polymorphism linked with susceptibility to major depressive disorder; 80% loss of function; decreases solubility; decreases thermal stability; reduces catalytic activity</li>			catalytic activity	GO:0003824					rs17110563	2
Q8IWV2	152330		<li>T->P at 176: in a colorectal cancer sample; somatic mutation</li><li>K->N at 420: in a colorectal cancer sample; somatic mutation</li>										2
Q8IWV7	197131		<li>H->R at 136: in JBS, MIM: 243800</li><li>K->M at 596: in dbSNP:rs34568456, MIM: 243800</li><li>I->V at 899: in dbSNP:rs35069201, MIM: 243800</li><li>G->S at 1279: in JBS, MIM: 243800</li>								Johanson-Blizzard syndrome (JBS) [MIM:243800]	<li>rs34568456</li><li>rs35069201</li>	2
Q8IWV8	23304		<li>E->D at 172: in dbSNP:rs6905054</li><li>A->T at 1095: in dbSNP:rs6917033</li>									<li>rs6917033</li><li>rs6905054</li>	2
Q8IWW6	94134		<li>F->S at 442: in dbSNP:rs2808096</li>									rs2808096	2
Q8IWW8	137872		<li>D->V at 242: in a breast cancer sample; somatic mutation</li><li>C->R at 449: in dbSNP:rs1060242</li>									rs1060242	2
Q8IWX7	146862		<li>V->I at 60: in dbSNP:rs16970659</li><li>A->V at 199: in dbSNP:rs35749208</li><li>K->R at 377: in dbSNP:rs41389545</li><li>D->H at 496: in a breast cancer sample; somatic mutation</li><li>I->N at 852: in dbSNP:rs11654824</li>									<li>rs35749208</li><li>rs16970659</li><li>rs11654824</li><li>rs41389545</li>	2
Q8IWX8	10523		<li>N->H at 199: in dbSNP:rs1043448</li>									rs1043448	2
Q8IWX9			<li>S->L at 100: in dbSNP:rs9349180</li><li>I->V at 115: in dbSNP:rs1968871</li><li>D->E at 160: in dbSNP:rs6458199</li>									<li>rs1968871</li><li>rs9349180</li><li>rs6458199</li>	2
Q8IWY4	80274		<li>G->R at 398: in dbSNP:rs129415</li><li>S->P at 648: in dbSNP:rs138993</li>									<li>rs138993</li><li>rs129415</li>	2
Q8IWY9	146059		<li>N->S at 599: in CDAI, MIM: 224120</li><li>P->L at 672: in CDAI, MIM: 224120</li><li>E->K at 698: in CDAI, MIM: 224120</li><li>R->W at 714: in CDAI, MIM: 224120</li><li>F->I at 868: in CDAI, MIM: 224120</li><li>V->M at 869: in CDAI, MIM: 224120</li><li>R->W at 1042: in CDAI, MIM: 224120</li><li>D->V at 1043: in CDAI, MIM: 224120</li><li>P->L at 1130: in CDAI, MIM: 224120</li>								Congenital dyserythropoietic anemia type I (CDAI) [MIM:224120]		2
Q8IWZ3	54882		<li>L->M at 175: in dbSNP:rs17850570</li><li>G->C at 228: in dbSNP:rs17850572</li><li>G->S at 1586: in dbSNP:rs1051309</li><li>N->S at 1760: in dbSNP:rs3752704</li>									<li>rs3752704</li><li>rs17850572</li><li>rs17850570</li><li>rs1051309</li>	2
Q8IWZ5	287015		<li>R->K at 244: in dbSNP:rs698673</li><li>V->M at 475: in dbSNP:rs28594654</li><li>A->E at 579: in dbSNP:rs9876490</li>									<li>rs28594654</li><li>rs698673</li><li>rs9876490</li>	2
Q8IWZ6	55212		<li>I->F at 66: in BBS7, MIM: 209900</li><li>T->I at 211: in BBS7, MIM: 209900</li><li>H->R at 323: in BBS7, MIM: 209900</li>							Q8IWZ6	Bardet-Biedl syndrome type 7 (BBS7) [MIM:209900]		2
Q8IWZ8	57794		<li>R->H at 290: in dbSNP:rs17751061</li><li>Q->H at 568: in dbSNP:rs1044980</li>									<li>rs17751061</li><li>rs1044980</li>	2
Q8IX01	10147		<li>S->G at 206: in dbSNP:rs4808907</li><li>M->T at 552: in dbSNP:rs10404860</li><li>Q->R at 649: in dbSNP:rs10414535</li><li>Q->R at 722: in dbSNP:rs34540303</li><li>R->Q at 881: in dbSNP:rs35646935</li>									<li>rs35646935</li><li>rs4808907</li><li>rs10404860</li><li>rs34540303</li><li>rs10414535</li>	2
Q8IX03	23286		<li>R->C at 250: in dbSNP:rs17551608</li><li>M->I at 734: in dbSNP:rs3822660</li><li>S->A at 735: in dbSNP:rs3822659</li>									<li>rs3822659</li><li>rs3822660</li><li>rs17551608</li>	2
Q8IX05	9936		<li>R->S at 200: in dbSNP:rs34068933</li>									rs34068933	2
Q8IX12	55749		<li>E->K at 607: in a colorectal cancer sample; somatic mutation</li>										2
Q8IX19	199675		<li>I->V at 167</li><li>L->V at 175: in dbSNP:rs10409343</li>									rs10409343	2
Q8IX21	55719		<li>S->Y at 541: in dbSNP:rs10883563</li>									rs10883563	2
Q8IX29	157574		<li>R->Q at 75: in dbSNP:rs3735726</li><li>M->I at 254: in dbSNP:rs1390963</li><li>T->N at 255: in dbSNP:rs7016831</li>									<li>rs7016831</li><li>rs3735726</li><li>rs1390963</li>	2
Q8IX30	222663		<li>S->L at 410: in dbSNP:rs3800381</li>									rs3800381	2
Q8IX90	221150		<li>T->A at 254: in dbSNP:rs17345690</li>									rs17345690	2
Q8IXA5	124912		<li>C->Y at 80: in dbSNP:rs16967845</li><li>H->R at 100: in dbSNP:rs28963</li><li>A->T at 128: in dbSNP:rs35420663</li>									<li>rs35420663</li><li>rs28963</li><li>rs16967845</li>	2
Q8IXB1	54431		<li>D->N at 76: in dbSNP:rs6729801</li><li>L->I at 347: in dbSNP:rs13414223</li><li>Y->C at 414: in dbSNP:rs11681366</li><li>H->Q at 646: in dbSNP:rs288334</li>									<li>rs11681366</li><li>rs13414223</li><li>rs6729801</li><li>rs288334</li>	2
Q8IXB3			<li>H->Y at 3</li><li>P->S at 15</li><li>A->T at 18</li><li>F->S at 20: in dbSNP:rs6502774</li><li>E->D at 34</li><li>S->G at 57: in dbSNP:rs6502776</li>									<li>rs6502776</li><li>rs6502774</li>	2
Q8IXE1	390437		<li>N->D at 191: in dbSNP:rs10131326</li><li>S->T at 234: in dbSNP:rs10140908</li><li>C->R at 260: in dbSNP:rs10134472</li><li>R->H at 290: in dbSNP:rs10141025</li>									<li>rs10134472</li><li>rs10131326</li><li>rs10141025</li><li>rs10140908</li>	2
Q8IXJ9	171023		<li>V->I at 751: in dbSNP:rs6058693</li><li>P->L at 815: in dbSNP:rs6058694</li><li>L->R at 983: in dbSNP:rs34359205</li><li>L->F at 1325: in dbSNP:rs6057581</li>									<li>rs6057581</li><li>rs34359205</li><li>rs6058694</li><li>rs6058693</li>	2
Q8IXK0	1912		<li>P->S at 254: in dbSNP:rs10914692</li><li>V->M at 475: in dbSNP:rs12026290</li>									<li>rs10914692</li><li>rs12026290</li>	2
Q8IXL6	56975		<li>G->E at 365: in RNS, MIM: 259775</li><li>G->R at 365: in RNS, MIM: 259775</li><li>L->R at 374: in RNS, MIM: 259775</li><li>R->W at 535: in RNS, MIM: 259775</li>								Raine syndrome (RNS) [MIM:259775]		2
Q8IXR5	51252		<li>R->C at 793: in dbSNP:rs34013660</li>									rs34013660	2
Q8IXS0	222826		<li>V->I at 431: in dbSNP:rs595413</li>									rs595413	2
Q8IXT1	220042		<li>I->T at 217: in dbSNP:rs17853911</li><li>R->S at 460: in dbSNP:rs7947780</li><li>D->N at 757: in dbSNP:rs35711622</li><li>P->R at 795: in dbSNP:rs11826199</li><li>V->I at 842: in dbSNP:rs7130899</li>									<li>rs11826199</li><li>rs7130899</li><li>rs7947780</li><li>rs35711622</li><li>rs17853911</li>	2
Q8IXT5	389677		<li>S->F at 250: in dbSNP:rs17853906</li><li>R->C at 605: in dbSNP:rs17857188</li><li>N->H at 864: in dbSNP:rs16916188</li>									<li>rs17853906</li><li>rs16916188</li><li>rs17857188</li>	2
Q8IXW0	256329		<li>T->A at 44: in dbSNP:rs2061586</li>									rs2061586	2
Q8IXX5	92703		<li>R->M at 10: in dbSNP:rs11558253</li><li>A->T at 80: in dbSNP:rs6678040</li>									<li>rs11558253</li><li>rs6678040</li>	2
Q8IXY8	285755		<li>H->R at 110: in dbSNP:rs9398200</li>									rs9398200	2
Q8IXZ2	23144		<li>M->I at 6: in dbSNP:rs2242093</li><li>F->Y at 149: in dbSNP:rs3750206</li><li>E->D at 151: in dbSNP:rs3750207</li><li>S->G at 399: in dbSNP:rs1318196</li><li>G->S at 452: in dbSNP:rs4874147</li>									<li>rs3750207</li><li>rs2242093</li><li>rs3750206</li><li>rs1318196</li><li>rs4874147</li>	2
Q8IY17	10908		<li>A->P at 403: in dbSNP:rs17854645</li><li>R->H at 929: in SPG39, MIM: 612020</li><li>K->R at 1024: in dbSNP:rs17854647, MIM: 612020</li><li>M->V at 1051: in SPG39, MIM: 612020</li>								Spastic paraplegia type 39 (SPG39) [MIM:612020]	<li>rs17854645</li><li>rs17854647</li>	2
Q8IY18	23137		<li>V->I at 306: in dbSNP:rs1180116</li><li>C->R at 308: in dbSNP:rs1180117</li>									<li>rs1180116</li><li>rs1180117</li>	2
Q8IY26	403313		<li>S->G at 7: in dbSNP:rs34250374</li><li>M->T at 8: in dbSNP:rs35791393</li><li>S->W at 140: in dbSNP:rs17857157</li>									<li>rs34250374</li><li>rs17857157</li><li>rs35791393</li>	2
Q8IY33	79778		<li>A->P at 480: in dbSNP:rs12540098</li><li>P->L at 519: in dbSNP:rs4075307</li><li>L->V at 711: in dbSNP:rs11980797</li>									<li>rs11980797</li><li>rs4075307</li><li>rs12540098</li>	2
Q8IY34	51296		<li>F->I at 349: in dbSNP:rs17855607</li>									rs17855607	2
Q8IY37	57647		<li>R->Q at 458: in dbSNP:rs11057939</li><li>K->N at 508: in dbSNP:rs35165507</li><li>V->I at 717: in dbSNP:rs35016004</li><li>S->G at 869: in dbSNP:rs4516060</li><li>R->Q at 1081: in dbSNP:rs4447263</li>									<li>rs4516060</li><li>rs11057939</li><li>rs35165507</li><li>rs4447263</li><li>rs35016004</li>	2
Q8IY42	55286		<li>D->E at 39: in dbSNP:rs6852908</li><li>A->T at 151: in dbSNP:rs2973275</li><li>E->G at 274: in dbSNP:rs3733500</li>									<li>rs6852908</li><li>rs3733500</li><li>rs2973275</li>	2
Q8IY47	25948		<li>Q->K at 166: in dbSNP:rs17853781</li><li>E->G at 189: in dbSNP:rs17854425</li><li>T->P at 193: in dbSNP:rs35477666</li><li>P->R at 254: in dbSNP:rs17857323</li><li>P->R at 301: in dbSNP:rs17857324</li><li>L->I at 534: in dbSNP:rs17854424</li><li>S->Y at 594: in dbSNP:rs17853783</li>									<li>rs17857324</li><li>rs17857323</li><li>rs17854424</li><li>rs17854425</li><li>rs35477666</li><li>rs17853781</li><li>rs17853783</li>	2
Q8IY50	148641		<li>S->C at 231: in dbSNP:rs17853780</li>									rs17853780	2
Q8IY51	201798		<li>V->I at 439: in dbSNP:rs4696354</li>									rs4696354	2
Q8IY63	154810		<li>P->L at 847: in dbSNP:rs11020968</li>									rs11020968	2
Q8IY81	117246		<li>E->Q at 91: in dbSNP:rs2584625</li><li>C->S at 424: in dbSNP:rs2727288</li>									<li>rs2584625</li><li>rs2727288</li>	2
Q8IY82	84229		<li>L->M at 120: in dbSNP:rs11649000</li><li>S->C at 186: in dbSNP:rs7196016</li><li>L->P at 433: in dbSNP:rs3809611</li><li>P->H at 521: in dbSNP:rs17853687</li><li>N->K at 581: in dbSNP:rs2923144</li><li>C->R at 766: in dbSNP:rs2923147</li>									<li>rs17853687</li><li>rs11649000</li><li>rs3809611</li><li>rs7196016</li><li>rs2923144</li><li>rs2923147</li>	2
Q8IY85	124989		<li>Q->H at 286: in a breast cancer sample; somatic mutation</li><li>V->I at 312: in dbSNP:rs4968318</li><li>M->V at 617: in dbSNP:rs17855599</li>									<li>rs4968318</li><li>rs17855599</li>	2
Q8IY92	84464		<li>P->L at 1122: in dbSNP:rs714181</li><li>A->V at 1221: in dbSNP:rs3827530</li><li>S->F at 1271: in dbSNP:rs3810813</li><li>A->T at 1367: in dbSNP:rs17136464</li><li>P->S at 1677: in dbSNP:rs7196345</li>									<li>rs7196345</li><li>rs3810813</li><li>rs17136464</li><li>rs3827530</li><li>rs714181</li>	2
Q8IYA6	150468		<li>L->F at 19: in dbSNP:rs36093393</li><li>K->R at 26: in dbSNP:rs35593767</li><li>N->S at 62: in dbSNP:rs17042344</li><li>T->I at 104: in dbSNP:rs13007595</li><li>S->R at 263: in dbSNP:rs17042341</li><li>I->V at 375: in dbSNP:rs6731822</li><li>P->A at 379: in dbSNP:rs2676126</li><li>S->G at 519: in dbSNP:rs36046436</li><li>L->S at 614: in dbSNP:rs3811040</li><li>E->D at 706: in dbSNP:rs3811039</li>									<li>rs36046436</li><li>rs13007595</li><li>rs6731822</li><li>rs3811039</li><li>rs17042344</li><li>rs3811040</li><li>rs2676126</li><li>rs36093393</li><li>rs17042341</li><li>rs35593767</li>	2
Q8IYA7	283078		<li>R->H at 40: in dbSNP:rs34439626</li>									rs34439626	2
Q8IYA8	339834		<li>D->E at 430: in dbSNP:rs13068038</li>									rs13068038	2
Q8IYB0			<li>D->Y at 129: in a colorectal cancer sample; somatic mutation</li>										2
Q8IYB4	51555		<li>A->T at 226: in a colorectal cancer sample; somatic mutation</li>										2
Q8IYB5	60682		<li>A->V at 212: in dbSNP:rs2273566</li>									rs2273566	2
Q8IYB7	129563		<li>P->S at 12: in dbSNP:rs723044</li>									rs723044	2
Q8IYD1	23708		<li>P->T at 23: in dbSNP:rs17855593</li>									rs17855593	2
Q8IYD9	162681		<li>R->P at 147: in dbSNP:rs1657907</li><li>C->F at 196: in dbSNP:rs16958096</li>									<li>rs1657907</li><li>rs16958096</li>	2
Q8IYE0	57639		<li>N->S at 345: in dbSNP:rs1109968</li>									rs1109968	2
Q8IYE1			<li>R->W at 25: in dbSNP:rs17238798</li><li>E->V at 375: in dbSNP:rs17853515</li><li>S->T at 547: in dbSNP:rs12495805</li>									<li>rs12495805</li><li>rs17238798</li><li>rs17853515</li>	2
Q8IYF1	51224		<li>R->P at 179: in dbSNP:rs2571028</li><li>C->F at 254: in dbSNP:rs2010834</li><li>A->S at 403: in dbSNP:rs892586</li><li>R->Q at 498: in a colorectal cancer sample; somatic mutation</li>									<li>rs2010834</li><li>rs2571028</li><li>rs892586</li>	2
Q8IYF3	56159		<li>K->R at 130: in dbSNP:rs6525433</li><li>E->K at 451: in dbSNP:rs4844247</li>									<li>rs6525433</li><li>rs4844247</li>	2
Q8IYG6	115399		<li>R->Q at 12: in dbSNP:rs2277269</li><li>R->G at 507: in dbSNP:rs10902170</li><li>D->H at 523: in dbSNP:rs10902171</li>									<li>rs10902171</li><li>rs10902170</li><li>rs2277269</li>	2
Q8IYH5	26009		<li>P->S at 456: in a colorectal cancer sample; somatic mutation</li>										2
Q8IYI0	149840		<li>A->V at 23: in dbSNP:rs237422</li>									rs237422	2
Q8IYI8	126070		<li>P->R at 88: in dbSNP:rs448446</li><li>S->N at 569: in dbSNP:rs400106</li>									<li>rs400106</li><li>rs448446</li>	2
Q8IYK2	126402		<li>D->E at 434: in dbSNP:rs17855585</li><li>T->S at 444: in dbSNP:rs8111625</li><li>P->T at 499: in dbSNP:rs8112667</li>									<li>rs8111625</li><li>rs8112667</li><li>rs17855585</li>	2
Q8IYK4	23127		<li>V->I at 475: in a breast cancer sample; somatic mutation</li>										2
Q8IYL2			<li>R->G at 352: in dbSNP:rs1880024</li>									rs1880024	2
Q8IYL3	339448		<li>T->R at 53: in dbSNP:rs4274008</li><li>A->S at 101: in dbSNP:rs10909820</li>									<li>rs4274008</li><li>rs10909820</li>	2
Q8IYL9	8477		<li>I->L at 231: in dbSNP:rs3742704</li>									rs3742704	2
Q8IYM0	84070		<li>V->M at 397: in dbSNP:rs17853450</li><li>E->Q at 553: in dbSNP:rs12299908</li>									<li>rs12299908</li><li>rs17853450</li>	2
Q8IYM2	55106		<li>S->R at 43: in dbSNP:rs1849733</li><li>C->R at 168: in dbSNP:rs2586514</li><li>S->P at 448: in dbSNP:rs12946189</li>									<li>rs1849733</li><li>rs12946189</li><li>rs2586514</li>	2
Q8IYM9	10346		<li>D->N at 155: in dbSNP:rs7935564</li><li>T->A at 232: in dbSNP:rs2291843</li><li>R->T at 242: in dbSNP:rs1063303</li><li>R->K at 321: in dbSNP:rs12364019</li>									<li>rs1063303</li><li>rs12364019</li><li>rs7935564</li><li>rs2291843</li>	2
Q8IYP9	254887		<li>H->N at 132: in dbSNP:rs17853401</li><li>T->A at 221: in dbSNP:rs17853402</li><li>K->R at 247: in dbSNP:rs11921691</li><li>H->R at 274: in dbSNP:rs17857054</li>									<li>rs17857054</li><li>rs17853402</li><li>rs11921691</li><li>rs17853401</li>	2
Q8IYQ7	79896		<li>L->P at 154: in dbSNP:rs35827877</li><li>A->E at 248: in dbSNP:rs34929144</li>									<li>rs34929144</li><li>rs35827877</li>	2
Q8IYR0	154313		<li>R->K at 154: in dbSNP:rs13219364</li><li>G->A at 170: in dbSNP:rs16879281</li>									<li>rs16879281</li><li>rs13219364</li>	2
Q8IYR2	114826		<li>I->R at 131: in dbSNP:rs7224496</li><li>R->W at 562: in dbSNP:rs11549830</li><li>C->Y at 727: in dbSNP:rs9902398</li>									<li>rs7224496</li><li>rs11549830</li><li>rs9902398</li>	2
Q8IYR6	8577		<li>V->I at 189: in dbSNP:rs35624603</li>									rs35624603	2
Q8IYS0	54762		<li>L->P at 644: in dbSNP:rs17853381</li>									rs17853381	2
Q8IYS1	135293		<li>K->E at 333: in dbSNP:rs10944433</li>									rs10944433	2
Q8IYS4	146562		<li>E->D at 88: in dbSNP:rs17137215</li><li>P->S at 143: in dbSNP:rs17137230</li><li>S->L at 190: in dbSNP:rs35599524</li><li>E->K at 232: in dbSNP:rs35002791</li><li>A->V at 241: in dbSNP:rs7202010</li><li>C->R at 302: in dbSNP:rs2075469</li><li>R->Q at 354: in dbSNP:rs737700</li>									<li>rs17137215</li><li>rs2075469</li><li>rs17137230</li><li>rs35002791</li><li>rs737700</li><li>rs35599524</li><li>rs7202010</li>	2
Q8IYS5	126014		<li>S->I at 97: in dbSNP:rs1657535</li><li>Y->S at 229: in dbSNP:rs8106130</li>									<li>rs1657535</li><li>rs8106130</li>	2
Q8IYT1	149647		<li>N->D at 22: in dbSNP:rs17853363</li><li>N->S at 253: in dbSNP:rs3122712</li><li>G->D at 319: in dbSNP:rs17853362</li><li>N->D at 551: in dbSNP:rs3122713</li><li>T->M at 577: in dbSNP:rs3795842</li>									<li>rs17853363</li><li>rs17853362</li><li>rs3122712</li><li>rs3795842</li><li>rs3122713</li>	2
Q8IYT2	55783		<li>L->F at 60: in dbSNP:rs3096380</li><li>Y->F at 163: in dbSNP:rs17853360</li><li>N->S at 416: in dbSNP:rs3803704</li><li>T->K at 608: in dbSNP:rs3096381</li><li>F->L at 753: in dbSNP:rs16970857</li>									<li>rs3096380</li><li>rs3096381</li><li>rs17853360</li><li>rs3803704</li><li>rs16970857</li>	2
Q8IYT3	80129		<li>A->V at 269: in dbSNP:rs12205837</li><li>F->S at 324: in dbSNP:rs953767</li><li>A->T at 331: in dbSNP:rs17855718</li><li>N->K at 479: in dbSNP:rs35159094</li><li>R->Q at 553: in dbSNP:rs34430497</li><li>V->I at 604: in dbSNP:rs6929137</li><li>V->I at 683: in dbSNP:rs3734804</li>									<li>rs6929137</li><li>rs17855718</li><li>rs35159094</li><li>rs953767</li><li>rs34430497</li><li>rs3734804</li><li>rs12205837</li>	2
Q8IYT4	83473		<li>S->N at 160: in dbSNP:rs7233515</li>									rs7233515	2
Q8IYT8	9706		<li>P->S at 242: in dbSNP:rs34670978</li><li>V->M at 370: in dbSNP:rs150122</li><li>T->I at 533: in dbSNP:rs4462660</li><li>G->E at 627: in a metastatic melanoma sample; somatic mutation</li><li>A->V at 662: in a metastatic melanoma sample; somatic mutation</li><li>G->R at 752: in dbSNP:rs55730189</li><li>D->E at 842: in dbSNP:rs35107651</li>									<li>rs4462660</li><li>rs35107651</li><li>rs34670978</li><li>rs55730189</li><li>rs150122</li>	2
Q8IYU4	143630		<li>D->V at 92: in dbSNP:rs7933557</li><li>Q->K at 143: in dbSNP:rs3802978</li><li>R->C at 171: in dbSNP:rs2047456</li><li>G->D at 259: in dbSNP:rs16932225</li><li>H->Y at 274: in dbSNP:rs2017434</li><li>A->V at 275: in dbSNP:rs2017433</li><li>G->W at 379: in dbSNP:rs393044</li><li>Q->E at 455: in dbSNP:rs12223282</li>									<li>rs2017433</li><li>rs7933557</li><li>rs16932225</li><li>rs2017434</li><li>rs12223282</li><li>rs393044</li><li>rs2047456</li><li>rs3802978</li>	2
Q8IYU8	221154		<li>Q->L at 260: in dbSNP:rs17853349</li>									rs17853349	2
Q8IYW2	54777		<li>A->T at 492: in dbSNP:rs4880433</li><li>S->G at 701: in dbSNP:rs2254419</li>									<li>rs2254419</li><li>rs4880433</li>	2
Q8IYW4	150350		<li>I->T at 109: in dbSNP:rs17319801</li>									rs17319801	2
Q8IYW5	165918	<ul><li>A->G at 179: Impairs ability to form foci following ionizing radiation; when associated with G-450</li><li>A->G at 450: Impairs ability to form foci following ionizing radiation; when associated with G-179</li></ul>	<li>K->R at 387: in dbSNP:rs35774921</li><li>P->Q at 401: in dbSNP:rs3796129</li><li>E->K at 413: in dbSNP:rs6790173</li>									<li>rs35774921</li><li>rs6790173</li><li>rs3796129</li>	3
Q8IYX0			<li>E->G at 69: in dbSNP:rs12154540</li><li>H->R at 120: in dbSNP:rs17139320</li><li>Y->H at 212: in dbSNP:rs1830035</li><li>C->S at 223: in dbSNP:rs1830036</li>									<li>rs12154540</li><li>rs1830035</li><li>rs1830036</li><li>rs17139320</li>	2
Q8IYX1	161514		<li>R->Q at 113: in dbSNP:rs16958445</li>									rs16958445	2
Q8IYX3	164592		<li>R->C at 96: in dbSNP:rs861854</li><li>G->R at 121: in dbSNP:rs371513</li><li>R->W at 122: in dbSNP:rs861853</li><li>R->W at 199: in dbSNP:rs12170285</li><li>A->T at 436: in dbSNP:rs11705259</li>									<li>rs371513</li><li>rs861853</li><li>rs861854</li><li>rs12170285</li><li>rs11705259</li>	2
Q8IYX7	158297		<li>K->E at 27: in dbSNP:rs7021572</li><li>P->S at 63: in dbSNP:rs6475273</li>									<li>rs6475273</li><li>rs7021572</li>	2
Q8IYX8	285753		<li>D->E at 194: in dbSNP:rs351733</li>									rs351733	2
Q8IYY4	199221		<li>R->W at 321: in dbSNP:rs2724693</li><li>A->T at 545: in dbSNP:rs446644</li><li>A->V at 551: in dbSNP:rs11917468</li><li>H->R at 593: in dbSNP:rs374045</li><li>K->E at 645: in dbSNP:rs442800</li>									<li>rs374045</li><li>rs442800</li><li>rs446644</li><li>rs2724693</li><li>rs11917468</li>	2
Q8IZ02	151827		<li>P->L at 36: in dbSNP:rs9820986</li><li>L->I at 241: in dbSNP:rs10936600</li><li>M->I at 360: in dbSNP:rs9872760</li>									<li>rs9820986</li><li>rs9872760</li><li>rs10936600</li>	2
Q8IZ07	88455		<li>L->P at 505: in dbSNP:rs2287174</li>									rs2287174	2
Q8IZ08	64582		<li>Q->P at 5: in dbSNP:rs1752428</li><li>V->A at 481: in dbSNP:rs1752427</li>									<li>rs1752427</li><li>rs1752428</li>	2
Q8IZ13	63920		<li>A->S at 523: in dbSNP:rs10515808</li>									rs10515808	2
Q8IZ20	257101		<li>H->N at 204: in dbSNP:rs17852672</li>									rs17852672	2
Q8IZ40	283248		<li>T->A at 514: in dbSNP:rs320108</li>									rs320108	2
Q8IZ52	79586		<li>R->Q at 371: in dbSNP:rs6436155</li>									rs6436155	2
Q8IZ57	140767		<li>I->V at 41: in dbSNP:rs17299946</li><li>H->Y at 104: in dbSNP:rs11544636</li>									<li>rs17299946</li><li>rs11544636</li>	2
Q8IZ63	163154		<li>P->L at 116: in dbSNP:rs3745640</li>									rs3745640	2
Q8IZ69	27037		<li>S->R at 602: in dbSNP:rs447017</li><li>P->S at 604: in a breast cancer sample; somatic mutation</li>									rs447017	2
Q8IZ83	126133		<li>E->K at 110: in dbSNP:rs3745312</li><li>V->L at 227: in dbSNP:rs1320303</li>									<li>rs3745312</li><li>rs1320303</li>	2
Q8IZ96	113540		<li>S->T at 10: in dbSNP:rs16956746</li>									rs16956746	2
Q8IZA0	79932		<li>G->D at 243: in dbSNP:rs1635712</li><li>Q->H at 837: in dbSNP:rs1361040</li>									<li>rs1361040</li><li>rs1635712</li>	2
Q8IZC4	219790		<li>K->T at 101: in dbSNP:rs3765004</li><li>H->R at 462: in dbSNP:rs3125734</li>									<li>rs3125734</li><li>rs3765004</li>	2
Q8IZC6	85301		<li>V->I at 89: in dbSNP:rs2567707</li><li>Q->R at 120: in dbSNP:rs2567706</li><li>A->T at 265: in dbSNP:rs34578955</li><li>R->C at 349: in dbSNP:rs34973417</li><li>A->T at 422: in dbSNP:rs2241671</li><li>I->T at 537: in dbSNP:rs2808770</li><li>I->F at 611: in dbSNP:rs2567705</li><li>P->R at 720: in dbSNP:rs35446342</li><li>P->Q at 1116: in dbSNP:rs7048607</li><li>R->Q at 1348: in dbSNP:rs1631319</li><li>R->Q at 1354: in dbSNP:rs10982134</li><li>M->V at 1808: in dbSNP:rs3736252</li>									<li>rs2567705</li><li>rs2241671</li><li>rs3736252</li><li>rs35446342</li><li>rs2808770</li><li>rs34973417</li><li>rs34578955</li><li>rs1631319</li><li>rs10982134</li><li>rs7048607</li><li>rs2567707</li><li>rs2567706</li>	2
Q8IZC7	94039		<li>M->L at 121: in dbSNP:rs4808209</li>									rs4808209	2
Q8IZD2	55904		<li>S->P at 1424: in dbSNP:rs35605511</li>									rs35605511	2
Q8IZD4	196513		<li>N->D at 195: in dbSNP:rs12423058</li><li>N->S at 216: in dbSNP:rs34730825</li><li>S->T at 302: in dbSNP:rs2470449</li><li>R->H at 345: in dbSNP:rs715146</li>									<li>rs12423058</li><li>rs715146</li><li>rs2470449</li><li>rs34730825</li>	2
Q8IZD6	55356		<li>P->Q at 349: in dbSNP:rs17852419</li>									rs17852419	2
Q8IZF2	221395		<li>T->M at 604: in dbSNP:rs586024</li><li>V->I at 801: in dbSNP:rs9395218</li><li>M->T at 856: in dbSNP:rs547499</li>									<li>rs9395218</li><li>rs586024</li><li>rs547499</li>	2
Q8IZF3	221393		<li>N->K at 541: in dbSNP:rs9369738</li><li>S->L at 674: in a breast cancer sample; somatic mutation</li>									rs9369738	2
Q8IZF5	165082		<li>A->T at 404: in dbSNP:rs2052937</li>									rs2052937	2
Q8IZF7			<li>Q->R at 148: in dbSNP:rs6907125</li><li>I->V at 467: in dbSNP:rs9381594</li>									<li>rs9381594</li><li>rs6907125</li>	2
Q8IZH2	54464		<li>S->G at 674: in dbSNP:rs35214510</li><li>V->A at 1259: in dbSNP:rs35902661</li>									<li>rs35902661</li><li>rs35214510</li>	2
Q8IZJ0	282616		<li>T->M at 10: in dbSNP:rs554971</li><li>T->A at 112: in dbSNP:rs8103362</li>									<li>rs554971</li><li>rs8103362</li>	2
Q8IZJ3			<li>R->W at 251: in dbSNP:rs10426545</li><li>T->M at 265: in dbSNP:rs4808551</li><li>Q->R at 294: in dbSNP:rs3745340</li><li>D->E at 539: in dbSNP:rs3745335</li><li>H->R at 546: in dbSNP:rs1824152</li><li>P->H at 736: in dbSNP:rs9305083</li><li>V->I at 1156: in dbSNP:rs2250918</li><li>I->T at 1268: in dbSNP:rs706761</li><li>Q->R at 1843: in dbSNP:rs1054533</li>									<li>rs1824152</li><li>rs4808551</li><li>rs2250918</li><li>rs3745340</li><li>rs1054533</li><li>rs9305083</li><li>rs706761</li><li>rs3745335</li><li>rs10426545</li>	2
Q8IZJ4	266747		<li>Q->R at 24: in dbSNP:rs738786</li><li>R->C at 37: in dbSNP:rs17003394</li><li>T->M at 216: in dbSNP:rs17003397</li><li>H->Y at 241: in dbSNP:rs2070446</li><li>E->K at 297: in dbSNP:rs17003398</li><li>M->R at 342: in dbSNP:rs2070449</li><li>D->V at 358: in dbSNP:rs8137247</li><li>V->A at 378: in dbSNP:rs1007298</li>									<li>rs8137247</li><li>rs2070446</li><li>rs17003394</li><li>rs2070449</li><li>rs1007298</li><li>rs17003398</li><li>rs738786</li><li>rs17003397</li>	2
Q8IZK6	255231		<li>M->V at 365: in dbSNP:rs17117841</li><li>K->Q at 370: in dbSNP:rs6704203</li>									<li>rs6704203</li><li>rs17117841</li>	2
Q8IZL8	27043		<li>T->S at 1126: in dbSNP:rs9436</li>									rs9436	2
Q8IZM9	145389		<li>M->L at 70: in dbSNP:rs976272</li>									rs976272	2
Q8IZN3	79683		<li>T->M at 334: in dbSNP:rs8180688</li>									rs8180688	2
Q8IZP0	10006		<li>G->A at 331: in dbSNP:rs2306236</li>									rs2306236	2
Q8IZP2			<li>S->L at 71</li>										2
Q8IZP6	140432		<li>V->M at 92: in dbSNP:rs16955011</li>									rs16955011	2
Q8IZP7	100134314		<li>K->R at 265: in dbSNP:rs9516771</li>									rs9516771	2
Q8IZQ1	23001		<li>I->V at 3032: in dbSNP:rs17368018</li>									rs17368018	2
Q8IZS5	266553		<li>S->L at 21: in dbSNP:rs9477310</li><li>R->Q at 123: in dbSNP:rs9383206</li><li>T->I at 145: in dbSNP:rs9477211</li>									<li>rs9383206</li><li>rs9477310</li><li>rs9477211</li>	2
Q8IZS6	6991		<li>I->V at 67</li><li>R->I at 88: in dbSNP:rs2027063</li><li>V->A at 121: in dbSNP:rs13194101</li>									<li>rs13194101</li><li>rs2027063</li>	2
Q8IZT6	259266		<li>I->V at 313: in dbSNP:rs12025066</li><li>R->G at 430: in dbSNP:rs6428388</li><li>T->S at 869: in dbSNP:rs7551108</li><li>S->F at 1090: in dbSNP:rs16841081</li><li>Y->H at 2494: in dbSNP:rs964201</li><li>S->G at 2562: in dbSNP:rs41310927</li><li>Q->H at 2620: in dbSNP:rs12138336</li><li>L->I at 2647: in dbSNP:rs3762271</li><li>L->R at 3132: in dbSNP:rs36004306</li><li>H->R at 3258: in dbSNP:rs7528827</li>									<li>rs12138336</li><li>rs6428388</li><li>rs7528827</li><li>rs3762271</li><li>rs16841081</li><li>rs7551108</li><li>rs41310927</li><li>rs12025066</li><li>rs36004306</li><li>rs964201</li>	2
Q8IZT8	222537		<li>I->N at 247: in dbSNP:rs17793043</li>									rs17793043	2
Q8IZU2	116966		<li>A->T at 814: in dbSNP:rs4690661</li><li>C->S at 913: in dbSNP:rs7693453</li><li>E->K at 952: in dbSNP:rs6810394</li><li>A->T at 1215: in dbSNP:rs17625943</li><li>A->T at 1295: in dbSNP:rs11736872</li>									<li>rs17625943</li><li>rs4690661</li><li>rs6810394</li><li>rs7693453</li><li>rs11736872</li>	2
Q8IZU8			<li>P->S at 673: in dbSNP:rs2279269</li><li>Y->C at 730: in dbSNP:rs12953840</li><li>K->E at 1090: in a colorectal cancer sample; somatic mutation</li>									<li>rs12953840</li><li>rs2279269</li>	2
Q8IZX4	138474		<li>G->A at 47: in a lung small cell carcinoma sample; somatic mutation</li><li>Q->E at 171</li><li>G->A at 256: in dbSNP rsrs55991718</li><li>M->V at 371: in dbSNP:rs17219559</li><li>I->N at 532: in dbSNP rsrs56128445</li><li>P->S at 637: in dbSNP rsrs56157814</li><li>L->F at 750: in a lung adenocarcinoma sample; somatic mutation</li><li>L->I at 762: in a lung adenocarcinoma sample; somatic mutation</li><li>E->D at 794: in a lung adenocarcinoma sample; somatic mutation</li><li>M->T at 820: in dbSNP:rs1258</li><li>R->Q at 845: in dbSNP rsrs34787787</li><li>R->C at 1016: in dbSNP rsrs35905429</li><li>K->N at 1038: in dbSNP rsrs55767137</li><li>T->I at 1169: in dbSNP rsrs55976674</li><li>V->L at 1312: in dbSNP rsrs55824107</li><li>R->C at 1356: in dbSNP rsrs56107531</li><li>P->S at 1389: in dbSNP rsrs56393725</li><li>I->V at 1411: in dbSNP rsrs34500740</li><li>A->T at 1540: in dbSNP rsrs55782058</li><li>H->Y at 1549: in a glioblastoma multiforme sample; somatic mutation</li><li>K->N at 1731: in dbSNP rsrs34241003</li><li>I->V at 1805: in dbSNP:rs16918393</li><li>P->L at 1810: in dbSNP rsrs56342342</li><li>H->Q at 1824: in a lung adenocarcinoma sample; somatic mutation</li>									<li>rs55782058</li><li>rs55976674</li><li>rs34787787</li><li>rs1258</li><li>rs56342342</li><li>rs55991718</li><li>rs55767137</li><li>rs34241003</li><li>rs56393725</li><li>rs34500740</li><li>rs16918393</li><li>rs56128445</li><li>rs35905429</li><li>rs56107531</li><li>rs56157814</li><li>rs17219559</li><li>rs55824107</li>	2
Q8IZY2	10347		<li>E->G at 188: in dbSNP:rs3764645</li><li>T->A at 319: in dbSNP:rs3752232</li><li>H->R at 395: in dbSNP:rs3764647</li><li>R->H at 463: in dbSNP:rs3752233</li><li>N->T at 718: in dbSNP:rs3752239</li><li>R->Q at 1349: in dbSNP:rs3745842</li><li>G->A at 1527: in dbSNP:rs3752246</li><li>Q->R at 1686: in dbSNP:rs4147918</li><li>A->S at 2045: in dbSNP:rs4147934</li>									<li>rs3752232</li><li>rs4147934</li><li>rs3752246</li><li>rs3752233</li><li>rs3752239</li><li>rs3764647</li><li>rs3745842</li><li>rs4147918</li><li>rs3764645</li>	2
Q8J025	147495		<li>V->I at 150: in dbSNP:rs3748415</li>									rs3748415	2
Q8N0S2	93426		<li>E->D at 132: in dbSNP:rs8181357</li><li>K->R at 183: in dbSNP:rs3747881</li><li>P->A at 317: in dbSNP:rs11101822</li>									<li>rs8181357</li><li>rs11101822</li><li>rs3747881</li>	2
Q8N0S6	91687		<li>I->F at 117: in dbSNP:rs12086855</li>									rs12086855	2
Q8N0T5			<li>L->F at 11: in dbSNP:rs9309024</li><li>S->P at 60: in dbSNP:rs17022177</li><li>L->S at 93: in dbSNP:rs68352</li>									<li>rs9309024</li><li>rs17022177</li><li>rs68352</li>	2
Q8N0U2	199964		<li>E->K at 40: in dbSNP:rs3737832</li>									rs3737832	2
Q8N0U4			<li>G->A at 60: in dbSNP:rs28695887</li>									rs28695887	2
Q8N0U6	221718		<li>Y->C at 106: in dbSNP:rs303061</li>									rs303061	2
Q8N0U7	127795		<li>Q->E at 151: in a breast cancer sample; somatic mutation</li><li>L->V at 185: in dbSNP:rs12737449</li><li>N->D at 301: in dbSNP:rs17120025</li><li>K->E at 403: in dbSNP:rs626251</li><li>A->P at 406: in dbSNP:rs35260089</li>									<li>rs12737449</li><li>rs35260089</li><li>rs626251</li><li>rs17120025</li>	2
Q8N0V3	79863		<li>V->M at 122: in dbSNP:rs748338</li><li>N->H at 245: in dbSNP:rs3744872</li><li>K->Q at 276: in dbSNP:rs3744873</li>									<li>rs3744872</li><li>rs3744873</li><li>rs748338</li>	2
Q8N0V4	55203		<li>R->Q at 444: in dbSNP:rs2232026</li><li>Q->R at 452: in dbSNP:rs2232027</li>									<li>rs2232027</li><li>rs2232026</li>	2
Q8N0W3	197258		<li>V->M at 146: in dbSNP rsrs17881323</li><li>A->T at 521: in dbSNP:rs17881069</li><li>R->H at 571: in dbSNP:rs17886171</li><li>P->L at 701: in dbSNP rsrs17883716</li><li>A->T at 858: in dbSNP rsrs17884050</li><li>V->M at 861: in dbSNP:rs17878599</li><li>R->W at 901: in dbSNP rsrs17881635</li><li>R->Q at 939: in dbSNP rsrs17886060</li><li>R->W at 939: in dbSNP rsrs17883248</li>									<li>rs17881323</li><li>rs17886171</li><li>rs17881069</li><li>rs17883248</li><li>rs17883716</li><li>rs17881635</li><li>rs17884050</li><li>rs17878599</li><li>rs17886060</li>	2
Q8N0W4	57502		<li>G->S at 214: in a colorectal cancer sample; somatic mutation</li>										2
Q8N0W5	124152		<li>L->P at 220: in dbSNP:rs7191155</li>									rs7191155	2
Q8N0W7	158521		<li>A->V at 142: in dbSNP:rs764631</li>									rs764631	2
Q8N0X2	79582		<li>P->T at 324: in dbSNP:rs10167688</li><li>Q->H at 361: in dbSNP:rs2042791</li><li>K->T at 425: in dbSNP:rs12623569</li>									<li>rs2042791</li><li>rs10167688</li><li>rs12623569</li>	2
Q8N0X4	171425		<li>D->Y at 28: in dbSNP:rs17577293</li><li>V->I at 128: in dbSNP:rs35680839</li><li>I->V at 241: in dbSNP:rs3783185</li>									<li>rs3783185</li><li>rs17577293</li><li>rs35680839</li>	2
Q8N0Y3			<li>L->F at 61: in dbSNP:rs535034</li><li>L->F at 86: in dbSNP:rs2808136</li><li>T->M at 239: in dbSNP:rs475947</li><li>F->L at 274: in dbSNP:rs3817271</li>									<li>rs2808136</li><li>rs535034</li><li>rs3817271</li><li>rs475947</li>	2
Q8N0Y5	120586		<li>I->V at 124: in dbSNP:rs17603011</li><li>K->N at 139: in dbSNP:rs17150021</li>									<li>rs17603011</li><li>rs17150021</li>	2
Q8N0Y7	441531		<li>R->C at 40</li><li>R->Q at 90: in dbSNP rsrs5959129</li><li>I->T at 175</li>									rs5959129	2
Q8N0Z3	152185		<li>L->V at 275: in dbSNP:rs16861032</li><li>R->G at 472: in dbSNP:rs7614751</li>									<li>rs16861032</li><li>rs7614751</li>	2
Q8N0Z6	91875		<li>Q->H at 14: in dbSNP:rs34675160</li><li>Q->R at 47: in dbSNP:rs3742945</li>									<li>rs3742945</li><li>rs34675160</li>	2
Q8N0Z8	126789		<li>R->Q at 103: in dbSNP:rs12094447</li><li>R->W at 197: in dbSNP:rs34738574</li>									<li>rs34738574</li><li>rs12094447</li>	2
Q8N0Z9	54621		<li>V->M at 333: in dbSNP:rs9668527</li><li>H->Y at 435: in dbSNP:rs7307331</li>									<li>rs7307331</li><li>rs9668527</li>	2
Q8N103	117289		<li>G->D at 346: in dbSNP:rs35263580</li>									rs35263580	2
Q8N114	51246		<li>G->R at 216: in dbSNP:rs35750010</li>									rs35750010	2
Q8N119	118856		<li>A->E at 95: in dbSNP:rs28381282</li><li>P->Q at 115: in dbSNP:rs28381284</li><li>A->V at 191: in dbSNP:rs10901425</li><li>D->E at 263: in dbSNP:rs34811493</li><li>E->G at 349: in dbSNP:rs28381302</li><li>A->V at 454: in dbSNP:rs28381319</li>									<li>rs28381284</li><li>rs28381319</li><li>rs34811493</li><li>rs28381302</li><li>rs10901425</li><li>rs28381282</li>	2
Q8N123	53336		<li>Y->S at 3: in dbSNP:rs5940915</li><li>R->H at 131: in dbSNP:rs5984611</li>									<li>rs5984611</li><li>rs5940915</li>	2
Q8N127	219447		<li>R->L at 122: in dbSNP:rs12224086</li><li>Y->C at 310: in dbSNP:rs17600939</li>									<li>rs17600939</li><li>rs12224086</li>	2
Q8N130	142680		<li>R->H at 67: in dbSNP:rs34372115</li><li>S->F at 138: in HHRH, MIM: 241530</li><li>G->A at 180: in dbSNP:rs35643193, MIM: 241530</li><li>S->L at 192: in HHRH, MIM: 241530</li><li>G->R at 196: in HHRH, MIM: 241530</li><li>D->N at 237, MIM: 241530</li><li>G->S at 337: in dbSNP:rs35699762, MIM: 241530</li><li>R->L at 353: in HHRH, MIM: 241530</li><li>A->E at 413: in HHRH, MIM: 241530</li><li>R->W at 468: in HHRH, MIM: 241530</li><li>V->E at 513: in dbSNP:rs28542318, MIM: 241530</li>								Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]	<li>rs28542318</li><li>rs35699762</li><li>rs35643193</li><li>rs34372115</li>	2
Q8N131	114908		<li>V->M at 71: in dbSNP:rs2155587</li><li>V->F at 86: in dbSNP:rs11547915</li><li>A->T at 158: in dbSNP:rs12288849</li>									<li>rs11547915</li><li>rs12288849</li><li>rs2155587</li>	2
Q8N136	164781		<li>T->I at 27: in dbSNP:rs11894733</li><li>T->S at 121: in dbSNP:rs1715828</li><li>T->M at 129: in a breast cancer sample; somatic mutation</li><li>G->S at 259: in dbSNP:rs35027781</li><li>L->F at 317: in dbSNP:rs35395984</li>									<li>rs35395984</li><li>rs1715828</li><li>rs11894733</li><li>rs35027781</li>	2
Q8N137	116840		<li>R->Q at 439: in dbSNP:rs35421969</li><li>P->Q at 578: in dbSNP:rs11650083</li>									<li>rs35421969</li><li>rs11650083</li>	2
Q8N139	23460		<li>V->I at 282: in dbSNP:rs4968839</li><li>N->Y at 610: in dbSNP:rs9282554</li><li>M->I at 698: in dbSNP:rs9282553</li><li>M->I at 875: in dbSNP:rs7212506</li><li>N->S at 1322: in dbSNP:rs2302134</li>									<li>rs9282553</li><li>rs9282554</li><li>rs2302134</li><li>rs4968839</li><li>rs7212506</li>	2
Q8N145	203190		<li>A->T at 524: in dbSNP:rs34112456</li>									rs34112456	2
Q8N146	390152		<li>P->S at 137: in dbSNP:rs1842691</li><li>I->V at 201: in dbSNP:rs17531522</li><li>R->K at 295: in dbSNP:rs11606538</li>									<li>rs17531522</li><li>rs1842691</li><li>rs11606538</li>	2
Q8N148	346517		<li>S->F at 237: in dbSNP:rs10245778</li><li>R->K at 269: in dbSNP:rs7791886</li><li>V->A at 295: in dbSNP:rs7779316</li>									<li>rs7779316</li><li>rs7791886</li><li>rs10245778</li>	2
Q8N149	11027		<li>H->L at 25: in dbSNP:rs1834697</li><li>H->N at 25: in dbSNP:rs1834698</li>									<li>rs1834698</li><li>rs1834697</li>	2
Q8N157	54806		<li>I->N at 49</li><li>V->D at 443: in JBTS3, MIM: 608629</li><li>R->H at 548: in dbSNP:rs35433555, MIM: 608629</li><li>R->Q at 723: in JBTS3, MIM: 608629</li><li>S->L at 761, MIM: 608629</li><li>R->W at 830: in dbSNP:rs13312995, MIM: 608629</li><li>T->S at 856, MIM: 608629</li><li>Y->C at 933: in dbSNP:rs41288013, MIM: 608629</li><li>Q->P at 1018: in dbSNP:rs6940875, MIM: 608629</li><li>S->F at 1123, MIM: 608629</li><li>P->S at 1140, MIM: 608629</li>								Joubert syndrome type 3 (JBTS3) [MIM:608629]	<li>rs13312995</li><li>rs6940875</li><li>rs41288013</li><li>rs35433555</li>	2
Q8N158	221914		<li>D->N at 200: in a breast cancer sample; somatic mutation</li>										2
Q8N159	162417		<li>C->R at 200: in NAGSD; markedly decreases activity, MIM: 237310</li><li>A->P at 279: in NAGSD, MIM: 237310</li><li>S->P at 410: in NAGSD; markedly decreases activity, MIM: 237310</li><li>L->P at 430: in NAGSD; markedly decreases activity, MIM: 237310</li><li>W->R at 484: in NAGSD; markedly decreases activity, MIM: 237310</li><li>A->T at 518: in NAGSD; markedly decreases activity, MIM: 237310</li>								N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]		2
Q8N162	390151		<li>H->Y at 120: in dbSNP:rs2512961</li><li>Y->C at 169: in dbSNP:rs2449148</li>									<li>rs2512961</li><li>rs2449148</li>	2
Q8N196			<li>A->T at 158: in BOR2; affects Eya1 binding and the ability to activate gene transcription, MIM: 610896</li><li>A->T at 296: in BOR2, MIM: 610896</li><li>G->R at 365: in BOR2, MIM: 610896</li><li>T->M at 552: in BOR2; affects Eya1 binding and the ability to activate gene transcription, MIM: 610896</li><li>L->V at 556: in dbSNP:rs2014377, MIM: 610896</li><li>P->S at 635: in dbSNP:rs2014576, MIM: 610896</li><li>V->M at 693: in dbSNP:rs2341097, MIM: 610896</li>	transcription	GO:0006350	binding	GO:0005488			<li>P12383</li><li>P97767</li>	Branchiootorenal syndrome type 2 (BOR2) [MIM:610896]	<li>rs2341097</li><li>rs2014377</li><li>rs2014576</li>	2
Q8N1A6	132321		<li>R->M at 40: in dbSNP:rs35199409</li><li>S->L at 104: in dbSNP:rs2271570</li><li>V->M at 107: in dbSNP:rs337277</li><li>H->R at 166: in dbSNP:rs17351999</li>									<li>rs17351999</li><li>rs2271570</li><li>rs35199409</li><li>rs337277</li>	2
Q8N1B3	92002		<li>C->S at 183: in dbSNP:rs17850173</li>									rs17850173	2
Q8N1C3	2565		<li>G->E at 403: in dbSNP:rs17852913</li>									rs17852913	2
Q8N1D0	5003		<li>R->G at 133: in dbSNP:rs441071</li>									rs441071	2
Q8N1D5	93190		<li>F->L at 191: in dbSNP:rs1132185</li>									rs1132185	2
Q8N1E6	144699		<li>L->V at 220: in dbSNP:rs35571553</li>									rs35571553	2
Q8N1F1	125144		<li>Y->C at 36: in dbSNP:rs35517418</li><li>S->T at 78: in dbSNP:rs35752829</li>									<li>rs35517418</li><li>rs35752829</li>	2
Q8N1F7	9688		<li>S->R at 509: in dbSNP:rs17853288</li>									rs17853288	2
Q8N1F8	114790		<li>R->H at 393: in dbSNP:rs17855575</li><li>R->G at 410: in dbSNP:rs17855576</li><li>V->I at 563: in dbSNP:rs673951</li><li>F->S at 752: in dbSNP:rs627530</li><li>I->V at 1085: in dbSNP:rs17853279</li>									<li>rs17855576</li><li>rs627530</li><li>rs17855575</li><li>rs17853279</li><li>rs673951</li>	2
Q8N1G0	57592		<li>G->E at 259: in dbSNP:rs3748545</li><li>R->T at 344: in dbSNP:rs12045766</li>									<li>rs3748545</li><li>rs12045766</li>	2
Q8N1G1	57455		<li>S->G at 886: in dbSNP:rs2396359</li>									rs2396359	2
Q8N1G4	57470		<li>E->D at 193: in a colorectal cancer sample; somatic mutation</li><li>P->L at 545: in dbSNP:rs11547614</li><li>V->I at 581: in dbSNP:rs11547615</li>									<li>rs11547615</li><li>rs11547614</li>	2
Q8N1I0	9732		<li>T->I at 87: in a CNS cancer cell line</li><li>E->Q at 606</li><li>K->T at 1059: in a CNS cancer cell line</li><li>P->L at 1718: in prostate and ovarian cancer cell lines; abolishes ability to interact with CRK and to activate Rap1</li><li>P->A at 1733</li><li>S->P at 1755: in colorectal cancer cell line</li><li>V->M at 1884: in a prostate cancer cell line</li><li>V->I at 1914: in dbSNP rsrs12705795</li><li>P->L at 1917</li><li>S->L at 1926: in dbSNP rsrs34597439</li>							<li>Q04929</li><li>Q01917</li><li>Q96TL7</li><li>P54664</li><li>P08645</li><li>P53681</li><li>Q91VL8</li><li>P18613</li><li>P46108</li>		<li>rs34597439</li><li>rs12705795</li>	2
Q8N1I2			<li>V->L at 47: in dbSNP:rs8103849</li>									rs8103849	2
Q8N1K5	387357		<li>V->G at 284: in dbSNP:rs11968051</li><li>I->V at 630: in dbSNP:rs675531</li>									<li>rs11968051</li><li>rs675531</li>	2
Q8N1L9	116071		<li>G->S at 6: in dbSNP:rs12419103</li>									rs12419103	2
Q8N1M1	144453		<li>Y->H at 43: in dbSNP:rs1025016</li><li>E->G at 622: in dbSNP:rs17106884</li>									<li>rs17106884</li><li>rs1025016</li>	2
Q8N1N2	284254		<li>V->A at 38: in dbSNP:rs35428499</li><li>T->P at 189: in dbSNP:rs9947055</li>									<li>rs9947055</li><li>rs35428499</li>	2
Q8N1N4	196374		<li>R->H at 25: in dbSNP:rs11170289</li><li>L->P at 92: in dbSNP:rs2013335</li><li>G->A at 224: in dbSNP:rs2682343</li><li>A->T at 238: in dbSNP:rs10876360</li>									<li>rs2682343</li><li>rs11170289</li><li>rs10876360</li><li>rs2013335</li>	2
Q8N1N5	285464		<li>C->Y at 89: in dbSNP:rs13097</li><li>H->P at 95: in dbSNP:rs9328733</li><li>V->M at 120: in dbSNP:rs13097</li>									<li>rs9328733</li><li>rs13097</li>	2
Q8N1P7	55057		<li>S->N at 249: in dbSNP:rs10751735</li>									rs10751735	2
Q8N1Q8	284486		<li>Y->S at 55: in dbSNP:rs16833597</li><li>D->G at 197: in dbSNP:rs6587625</li><li>L->V at 206: in dbSNP:rs6587624</li>									<li>rs16833597</li><li>rs6587624</li><li>rs6587625</li>	2
Q8N1S5	201266		<li>A->T at 111: in dbSNP:rs2466517</li>									rs2466517	2
Q8N1T3	283446		<li>S->R at 37: in dbSNP:rs11611277</li><li>H->Y at 705: in dbSNP:rs34725387</li><li>L->P at 1011: in dbSNP:rs3825393</li>									<li>rs34725387</li><li>rs3825393</li><li>rs11611277</li>	2
Q8N1V2	146845		<li>E->K at 336: in dbSNP:rs6503235</li>									rs6503235	2
Q8N1W0			<li>G->D at 363: in dbSNP:rs1040285</li><li>P->S at 419: in dbSNP:rs949882</li><li>V->A at 458: in dbSNP:rs4142466</li>									<li>rs949882</li><li>rs4142466</li><li>rs1040285</li>	2
Q8N1W1			<li>R->M at 98: in dbSNP:rs12659447</li><li>W->R at 225: in dbSNP:rs7714670</li><li>P->Q at 284: in dbSNP:rs6453022</li><li>S->L at 544: in dbSNP:rs2973571</li><li>R->K at 585: in dbSNP:rs2973566</li><li>H->N at 780: in dbSNP:rs2973558</li><li>P->S at 1548: in dbSNP:rs17634865</li><li>H->Q at 1640: in dbSNP:rs1478453</li>									<li>rs6453022</li><li>rs7714670</li><li>rs2973566</li><li>rs1478453</li><li>rs12659447</li><li>rs2973558</li><li>rs2973571</li><li>rs17634865</li>	2
Q8N201	26173		<li>P->L at 172: in dbSNP:rs3752714</li>									rs3752714	2
Q8N205	163183		<li>S->L at 224: in dbSNP:rs34818970</li><li>Q->H at 278: in dbSNP:rs2285422</li>									<li>rs34818970</li><li>rs2285422</li>	2
Q8N228	256380		<li>R->Q at 126: in dbSNP:rs6934505</li>									rs6934505	2
Q8N271	150696		<li>Q->R at 508: in dbSNP:rs12992066</li>									rs12992066	2
Q8N283	148741		<li>N->K at 53: in dbSNP:rs6658371</li><li>P->S at 428: in dbSNP:rs6670984</li><li>N->D at 978: in dbSNP:rs16827032</li>									<li>rs6670984</li><li>rs16827032</li><li>rs6658371</li>	2
Q8N292	202309	<ul><li>P->A at 139: Abolishes interaction with GRB2</li><li>P->A at 141: Abolishes interaction with GRB2</li><li>P->A at 145: Abolishes interaction with GRB2</li></ul>	<li>A->T at 83: in dbSNP:rs35260984</li>							<li>P62993</li><li>Q07883</li><li>Q5R4J7</li>		rs35260984	3
Q8N2A8	201164		<li>L->P at 42: in dbSNP:rs17856924</li><li>R->H at 108: in dbSNP:rs11551966</li>									<li>rs11551966</li><li>rs17856924</li>	2
Q8N2B8			<li>R->Q at 127: in a colorectal cancer sample; somatic mutation</li>										2
Q8N2C3	120863		<li>H->R at 122: in dbSNP:rs7307415</li>									rs7307415	2
Q8N2C7			<li>R->W at 131: in dbSNP:rs35822936</li>									rs35822936	2
Q8N2C9			<li>V->F at 98: in dbSNP:rs220111</li>									rs220111	2
Q8N2E2	221806		<li>N->K at 964: in dbSNP:rs6460939</li><li>M->T at 1032: in dbSNP:rs2053380</li><li>Q->K at 1256: in dbSNP:rs6967385</li><li>F->C at 1485: in dbSNP:rs2192828</li>									<li>rs6967385</li><li>rs6460939</li><li>rs2192828</li><li>rs2053380</li>	2
Q8N2F6	83787		<li>P->S at 190: in dbSNP:rs17849774</li>									rs17849774	2
Q8N2G6	219654		<li>E->V at 43: in dbSNP:rs17852581</li>									rs17852581	2
Q8N2H3	84795		<li>P->S at 428: in dbSNP:rs17856170</li><li>M->T at 461: in dbSNP:rs2147896</li><li>A->T at 533: in dbSNP:rs2296441</li>									<li>rs17856170</li><li>rs2296441</li><li>rs2147896</li>	2
Q8N2I9	83931		<li>A->V at 10: in dbSNP rsrs56314546</li><li>M->T at 133: in a colorectal adenocarcinoma sample; somatic mutation</li><li>R->Q at 211: in a colorectal adenocarcinoma sample; somatic mutation</li><li>A->T at 395: in dbSNP:rs3795498</li>									<li>rs56314546</li><li>rs3795498</li>	2
Q8N2K0	26090		<li>A->T at 349: in dbSNP:rs746748</li>									rs746748	2
Q8N2M4	144110		<li>V->A at 215: in dbSNP:rs7945285</li>									rs7945285	2
Q8N2M8	11129		<li>K->E at 174: in dbSNP:rs4803794</li><li>L->S at 213: in a breast cancer sample; somatic mutation</li>									rs4803794	2
Q8N2S1	8425		<li>V->I at 194: in dbSNP:rs2303729</li><li>R->G at 635: in dbSNP:rs33937741</li><li>P->A at 679: in dbSNP:rs34299942</li><li>T->A at 787: in dbSNP:rs1131620</li><li>T->A at 820: in dbSNP:rs1051303</li><li>T->M at 1141: in dbSNP:rs10880</li>									<li>rs34299942</li><li>rs33937741</li><li>rs1051303</li><li>rs1131620</li><li>rs2303729</li><li>rs10880</li>	2
Q8N2U9	80148		<li>G->A at 175: in a colorectal cancer sample; somatic mutation</li>										2
Q8N2X6	116349		<li>P->S at 50: in dbSNP:rs10035653</li><li>R->G at 118: in dbSNP:rs10035612</li>									<li>rs10035612</li><li>rs10035653</li>	2
Q8N2Y8	9853		<li>A->T at 73: in dbSNP:rs1535422</li><li>P->L at 654: in dbSNP:rs3750427</li>									<li>rs3750427</li><li>rs1535422</li>	2
Q8N302	55109		<li>E->K at 133: in KTS; in 5 patients; displays a stronger angiogenic activity; dbSNP:rs34203073, MIM: 149000</li><li>T->A at 180: in dbSNP:rs9715897, MIM: 149000</li><li>L->P at 471: in dbSNP:rs17856835, MIM: 149000</li><li>P->T at 698: in dbSNP:rs34400049, MIM: 149000</li>								Klippel-Trenaunay syndrome (KTS) [MIM:149000]	<li>rs34400049</li><li>rs9715897</li><li>rs34203073</li><li>rs17856835</li>	2
Q8N307	200958		<li>C->S at 3: in dbSNP:rs7627924</li><li>V->G at 18: in dbSNP:rs1811139</li><li>Missing at 130-376</li><li>Missing at 184-354</li><li>Missing at 203-354</li><li>Missing at 241-354</li><li>I->T at 442: in dbSNP:rs2550232</li><li>Missing at 483-533</li><li>P->L at 590: in dbSNP:rs3828408</li><li>R->W at 666: in dbSNP:rs11923495</li><li>S->C at 671: in dbSNP:rs3762739</li>									<li>rs11923495</li><li>rs3762739</li><li>rs1811139</li><li>rs7627924</li><li>rs2550232</li><li>rs3828408</li>	2
Q8N309	254050		<li>Q->K at 256: in dbSNP:rs11060094</li>									rs11060094	2
Q8N319	221416		<li>K->E at 48: in dbSNP:rs2295333</li>									rs2295333	2
Q8N323	120400		<li>G->R at 353: in dbSNP:rs10891692</li><li>I->T at 423: in dbSNP:rs34993124</li>									<li>rs10891692</li><li>rs34993124</li>	2
Q8N326	221060		<li>R->K at 70: in dbSNP:rs7896053</li>									rs7896053	2
Q8N328	267004		<li>K->R at 382: in dbSNP:rs4253072</li><li>D->G at 415: in a breast cancer sample; somatic mutation</li><li>Q->E at 446: in dbSNP:rs11101143</li>									<li>rs11101143</li><li>rs4253072</li>	2
Q8N335	23171		<li>E->K at 83: in SIDS; significant reduction of sodium current when coexpressed with SCN5A in HEK cells, MIM: 272120</li><li>I->V at 124: in SIDS; significant reduction of sodium current when coexpressed with SCN5A in HEK cells, MIM: 272120</li><li>L->F at 178: in dbSNP:rs35447795, MIM: 272120</li><li>R->C at 273: in SIDS; significant reduction of sodium current when coexpressed with SCN5A in HEK cells, MIM: 272120</li><li>A->V at 280: in BRS2; affects SCN5A membrane expression; reduction of sodium current when coexpressed with SCN5A in HEK cells, MIM: 611777</li>					membrane	GO:0016020	<li>Q14524</li><li>P29320</li>	<li>Brugada syndrome type 2 (BRS2) [MIM:611777]</li><li>Sudden infant death syndrome (SIDS) [MIM:272120]</li>	rs35447795	2
Q8N339	4499		<li>T->K at 20: in dbSNP:rs1827210</li>									rs1827210	2
Q8N344	54531		<li>D->N at 68: in dbSNP:rs7507468</li><li>D->N at 104: in dbSNP:rs10421231</li><li>P->S at 464: in dbSNP:rs34129568</li><li>S->G at 485: in dbSNP:rs35042658</li>									<li>rs34129568</li><li>rs7507468</li><li>rs35042658</li><li>rs10421231</li>	2
Q8N349	284521		<li>L->F at 156: in dbSNP:rs12742561</li>									rs12742561	2
Q8N371	79831		<li>E->D at 302: in dbSNP:rs34445573</li>									rs34445573	2
Q8N386	126364		<li>P->S at 294: in dbSNP:rs6512265</li>									rs6512265	2
Q8N387	143662		<li>S->W at 19: in dbSNP:rs293979</li><li>I->T at 184: in dbSNP:rs2292290</li><li>T->I at 202: in dbSNP:rs15783</li>									<li>rs15783</li><li>rs293979</li><li>rs2292290</li>	2
Q8N394	160335		<li>A->T at 315: in dbSNP:rs1201791</li><li>Y->S at 443: in dbSNP:rs17010106</li><li>D->Y at 741: in dbSNP:rs428398</li>									<li>rs17010106</li><li>rs428398</li><li>rs1201791</li>	2
Q8N398	90113		<li>P->S at 211: in dbSNP:rs902417</li>									rs902417	2
Q8N3A8	79668		<li>S->A at 777: in a colorectal cancer sample; somatic mutation</li>										2
Q8N3C0	10973		<li>L->F at 146: in dbSNP:rs9390698</li><li>E->K at 344: in dbSNP:rs6918004</li><li>N->S at 478: in dbSNP:rs7750940</li><li>V->I at 1050: in dbSNP:rs9497983</li><li>V->A at 1425: in dbSNP:rs17246013</li><li>R->T at 1497: in dbSNP:rs17305382</li><li>C->W at 1800: in dbSNP:rs35011147</li><li>V->M at 1930: in dbSNP:rs3213542</li><li>S->C at 1995: in dbSNP:rs240780</li><li>Y->C at 2176: in dbSNP:rs240768</li>									<li>rs240768</li><li>rs35011147</li><li>rs9497983</li><li>rs240780</li><li>rs17246013</li><li>rs3213542</li><li>rs17305382</li><li>rs9390698</li><li>rs7750940</li><li>rs6918004</li>	2
Q8N3C7	79745		<li>R->L at 486: in dbSNP:rs3100246</li><li>T->P at 613: in dbSNP:rs34327508</li>									<li>rs34327508</li><li>rs3100246</li>	2
Q8N3D4	254102		<li>R->Q at 307: in dbSNP:rs3741380</li><li>V->G at 538: in dbSNP:rs6591182</li><li>D->V at 569: in dbSNP:rs1194099</li><li>T->I at 599: in dbSNP:rs7931052</li><li>T->I at 648: in dbSNP:rs7931269</li>									<li>rs3741380</li><li>rs1194099</li><li>rs6591182</li><li>rs7931269</li><li>rs7931052</li>	2
Q8N3E9	113026		<li>P->L at 652: in dbSNP:rs734921</li>									rs734921	2
Q8N3F8	85377		<li>A->S at 519: in dbSNP:rs9610875</li><li>P->L at 583: in dbSNP:rs2272829</li><li>H->R at 685: in dbSNP:rs34834842</li><li>E->K at 817: in a breast cancer sample; somatic mutation</li>									<li>rs9610875</li><li>rs2272829</li><li>rs34834842</li>	2
Q8N3F9	283554		<li>V->I at 248: in dbSNP:rs762063</li>									rs762063	2
Q8N3G9	222865		<li>E->V at 407: in dbSNP:rs17161477</li>									rs17161477	2
Q8N3I7	129880		<li>N->S at 184: in BBS5, MIM: 209900</li><li>R->H at 207: in BBS5; may have a modifying effect on BBS phenotype: in dbSNP rsrs35487251, MIM: 209900</li>							<li>Q8N3I7</li><li>Q4R649</li>	Bardet-Biedl syndrome type 5 (BBS5) [MIM:209900]	rs35487251	2
Q8N3J2	64863		<li>L->F at 163: in dbSNP:rs12606220</li><li>K->Q at 310: in dbSNP:rs2677879</li><li>L->V at 468: in dbSNP:rs8084295</li>									<li>rs12606220</li><li>rs2677879</li><li>rs8084295</li>	2
Q8N3J3	78995		<li>T->P at 126: in dbSNP:rs227584</li>									rs227584	2
Q8N3K9	202333		<li>Y->C at 64: in dbSNP:rs16877109</li><li>Q->H at 175: in dbSNP:rs6895605</li><li>D->G at 190: in dbSNP:rs10942901</li><li>G->D at 349: in dbSNP:rs1366271</li><li>G->D at 591: in dbSNP:rs16877124</li><li>V->A at 1006: in dbSNP:rs6893869</li><li>A->V at 1295: in dbSNP:rs4704585</li><li>I->V at 1309: in dbSNP:rs16877133</li><li>A->V at 1333: in dbSNP:rs16877135</li><li>I->V at 1380: in dbSNP:rs13158477</li><li>A->E at 1567: in dbSNP:rs1428223</li><li>S->A at 1599: in dbSNP:rs1428224</li><li>L->S at 1669: in dbSNP:rs1019762</li><li>I->N at 1713: in dbSNP:rs16877141</li><li>I->V at 1721: in dbSNP:rs1428225</li><li>A->V at 1875: in dbSNP:rs16877147</li><li>D->G at 1917: in dbSNP:rs16877150</li><li>S->G at 1920: in dbSNP:rs16877151</li><li>V->L at 2262: in dbSNP:rs6859595</li><li>K->E at 2383: in dbSNP:rs7721884</li><li>T->I at 2693: in dbSNP:rs28362541</li><li>K->N at 2906: in dbSNP:rs2278239</li><li>G->R at 2935: in dbSNP:rs2278240</li><li>H->Q at 3358: in dbSNP:rs3828611</li><li>K->E at 3583: in dbSNP:rs12514461</li><li>R->Q at 3927: in dbSNP:rs1129770</li><li>P->L at 4063: in dbSNP:rs10043986</li>									<li>rs16877124</li><li>rs1366271</li><li>rs13158477</li><li>rs16877109</li><li>rs1129770</li><li>rs12514461</li><li>rs1428225</li><li>rs1428224</li><li>rs1428223</li><li>rs7721884</li><li>rs10942901</li><li>rs16877133</li><li>rs6895605</li><li>rs3828611</li><li>rs10043986</li><li>rs16877150</li><li>rs16877151</li><li>rs1019762</li><li>rs16877135</li><li>rs6859595</li><li>rs4704585</li><li>rs6893869</li><li>rs2278240</li><li>rs28362541</li><li>rs2278239</li><li>rs16877141</li><li>rs16877147</li>	2
Q8N3L3	167838		<li>A->T at 11: in dbSNP:rs9321712</li><li>P->A at 650: in dbSNP:rs9495391</li>									<li>rs9321712</li><li>rs9495391</li>	2
Q8N3P4	23355		<li>V->I at 83: in dbSNP:rs9830734</li><li>H->Y at 1165: in dbSNP:rs11555405</li><li>I->T at 1364: in dbSNP:rs3821750</li><li>R->H at 1372: in dbSNP:rs16859527</li>									<li>rs9830734</li><li>rs16859527</li><li>rs11555405</li><li>rs3821750</li>	2
Q8N3R3	285343		<li>H->P at 4: in dbSNP:rs35830741</li>									rs35830741	2
Q8N3T1	117248		<li>V->G at 68: in dbSNP:rs36026882</li><li>P->L at 151: in dbSNP:rs11715981</li><li>P->A at 324: in dbSNP:rs12634179</li><li>A->T at 432: in dbSNP:rs17851238</li><li>H->Y at 510: in dbSNP:rs2271077</li>									<li>rs11715981</li><li>rs2271077</li><li>rs36026882</li><li>rs17851238</li><li>rs12634179</li>	2
Q8N3T6			<li>H->R at 160: in dbSNP:rs11059681</li><li>V->M at 231: in dbSNP:rs12307622</li><li>V->I at 271: in dbSNP:rs1683723</li><li>V->I at 443: in dbSNP:rs4272850</li><li>T->S at 729: in dbSNP:rs12426596</li><li>F->I at 798: in dbSNP:rs12301587</li><li>R->G at 809: in dbSNP:rs12424159</li>									<li>rs1683723</li><li>rs12424159</li><li>rs12426596</li><li>rs12301587</li><li>rs11059681</li><li>rs4272850</li><li>rs12307622</li>	2
Q8N3X1	23360		<li>E->G at 125: in dbSNP:rs34962598</li><li>T->A at 794: in dbSNP:rs35040940</li>									<li>rs35040940</li><li>rs34962598</li>	2
Q8N3Y3	120071		<li>E->K at 37: in dbSNP:rs17853729</li><li>R->W at 546: in dbSNP:rs11038713</li><li>R->C at 677: in dbSNP:rs2271851</li>									<li>rs2271851</li><li>rs11038713</li><li>rs17853729</li>	2
Q8N3Y7	195814		<li>R->W at 62: in dbSNP:rs4151643</li>									rs4151643	2
Q8N3Z0	167681		<li>R->Q at 224: in dbSNP:rs504593</li>									rs504593	2
Q8N3Z3	29083		<li>Q->H at 242: in dbSNP:rs1054263</li>									rs1054263	2
Q8N402			<li>P->L at 97: in dbSNP:rs12169718</li><li>T->S at 114: in dbSNP:rs6519443</li><li>T->P at 131: in dbSNP:rs6519442</li>									<li>rs6519443</li><li>rs6519442</li><li>rs12169718</li>	2
Q8N412	285555		<li>C->W at 111: in dbSNP:rs13131259</li><li>F->V at 112: in dbSNP:rs13131258</li><li>Y->H at 125: in dbSNP:rs17558193</li><li>I->V at 178: in dbSNP:rs2903150</li><li>K->R at 279: in dbSNP:rs7654193</li><li>V->A at 420: in dbSNP:rs17026871</li>									<li>rs7654193</li><li>rs17558193</li><li>rs13131258</li><li>rs17026871</li><li>rs2903150</li><li>rs13131259</li>	2
Q8N413	283130		<li>M->V at 224: in dbSNP:rs624307</li><li>R->Q at 251: in dbSNP:rs7108281</li>									<li>rs624307</li><li>rs7108281</li>	2
Q8N414	79605		<li>V->M at 127: in dbSNP:rs2009265</li>									rs2009265	2
Q8N423	10288		<li>H->R at 20: in dbSNP:rs383369</li><li>D->E at 161: in dbSNP:rs373032</li><li>V->M at 235: in dbSNP:rs386056</li><li>Y->H at 300: in dbSNP:rs7247538</li><li>W->C at 306: in dbSNP:rs7247451</li><li>T->R at 324: in dbSNP:rs7247055</li><li>F->S at 326: in dbSNP:rs7246737</li><li>R->G at 349: in dbSNP:rs7247025</li>									<li>rs386056</li><li>rs7247451</li><li>rs7247055</li><li>rs7247538</li><li>rs373032</li><li>rs383369</li><li>rs7247025</li><li>rs7246737</li>	2
Q8N427	51314		<li>R->K at 43: in dbSNP:rs2722372</li><li>C->R at 208: in dbSNP:rs10250905</li><li>I->T at 289: in a breast cancer sample; somatic mutation</li>									<li>rs10250905</li><li>rs2722372</li>	2
Q8N434	136306		<li>F->C at 385: in dbSNP:rs2305816</li>									rs2305816	2
Q8N436	119587		<li>R->Q at 750: in dbSNP:rs7088479</li>									rs7088479	2
Q8N441	53834		<li>P->Q at 362: in dbSNP:rs4647930</li><li>P->L at 464: in dbSNP:rs4647932</li>									<li>rs4647930</li><li>rs4647932</li>	2
Q8N442	60558		<li>L->P at 58: in dbSNP:rs6447368</li><li>T->I at 329: in dbSNP:rs10470742</li>									<li>rs6447368</li><li>rs10470742</li>	2
Q8N448	222484		<li>S->P at 198: in dbSNP:rs8002697</li>									rs8002697	2
Q8N456	474354		<li>G->V at 7: in dbSNP:rs7094610</li><li>R->H at 31: in dbSNP:rs17772611</li>									<li>rs7094610</li><li>rs17772611</li>	2
Q8N461	146330		<li>L->P at 429: in dbSNP:rs17855603</li>									rs17855603	2
Q8N465	728294		<li>R->G at 15: in dbSNP rsrs4675887</li><li>I->S at 147: in D2HGA; severe phenotype; loss of catalytic activity, MIM: 600721</li><li>V->I at 338: in dbSNP:rs1106639, MIM: 600721</li><li>A->V at 361: in dbSNP:rs1105273, MIM: 600721</li><li>D->Y at 375: in D2HGA, MIM: 600721</li><li>G->V at 436, MIM: 600721</li><li>N->D at 439: in D2HGA; mild phenotype; altered catalytic activity, MIM: 600721</li><li>V->A at 444: in D2HGA; severe phenotype; altered catalytic activity, MIM: 600721</li>			catalytic activity	GO:0003824				D-2-hydroxyglutaric aciduria (D2HGA) [MIM:600721]	<li>rs4675887</li><li>rs1106639</li><li>rs1105273</li>	2
Q8N468	148808		<li>L->I at 228: in dbSNP:rs17857119</li><li>G->A at 314: in dbSNP:rs7526132</li>									<li>rs17857119</li><li>rs7526132</li>	2
Q8N475	56884		<li>L->I at 92: in a colorectal cancer sample; somatic mutation</li><li>D->Y at 711: in dbSNP:rs3749598</li><li>K->E at 815: in dbSNP:rs17040982</li>									<li>rs3749598</li><li>rs17040982</li>	2
Q8N485	167410		<li>R->I at 3: in dbSNP:rs11558079</li>									rs11558079	2
Q8N490	25953		<li>A->V at 7: in DYT8</li><li>A->V at 9: in DYT8</li>										2
Q8N4B4	162517		<li>P->S at 10: in dbSNP:rs4796555</li><li>Y->C at 166: in dbSNP:rs16956264</li><li>S->T at 221: in dbSNP:rs4143218</li><li>L->F at 231: in dbSNP:rs1509123</li><li>I->M at 363: in dbSNP:rs7213731</li>									<li>rs4143218</li><li>rs16956264</li><li>rs7213731</li><li>rs1509123</li><li>rs4796555</li>	2
Q8N4B5	285800		<li>S->C at 136: in dbSNP:rs7757150</li>									rs7757150	2
Q8N4C6	51199		<li>P->A at 1111: in dbSNP:rs2236316</li><li>P->Q at 1125: in dbSNP:rs12882191</li><li>E->G at 1320: in dbSNP:rs2073347</li><li>S->T at 1837: in dbSNP:rs12717411</li><li>Q->E at 1934: in dbSNP:rs2295847</li>									<li>rs12717411</li><li>rs2073347</li><li>rs2236316</li><li>rs12882191</li><li>rs2295847</li>	2
Q8N4C8	50488		<li>A->T at 514</li><li>A->V at 771</li><li>L->P at 775</li><li>V->I at 863</li><li>E->V at 1010: in a gastric adenocarcinoma sample; somatic mutation</li><li>I->V at 1200</li>										2
Q8N4C9	284099		<li>S->T at 152: in dbSNP:rs1714987</li>									rs1714987	2
Q8N4F0	80341		<li>A->V at 20: in a colorectal cancer sample; somatic mutation</li><li>K->M at 31: in dbSNP:rs6088066</li><li>A->V at 63: in dbSNP:rs34128772</li>									<li>rs6088066</li><li>rs34128772</li>	2
Q8N4F7	285533		<li>M->V at 159: in dbSNP:rs10517577</li><li>L->F at 307: in dbSNP:rs1337</li><li>I->M at 315: in dbSNP:rs1339</li><li>N->I at 322: in dbSNP:rs2405432</li>									<li>rs10517577</li><li>rs1339</li><li>rs2405432</li><li>rs1337</li>	2
Q8N4H0	55064		<li>R->G at 243: in dbSNP:rs10974657</li><li>A->T at 310: in dbSNP:rs16921613</li>									<li>rs10974657</li><li>rs16921613</li>	2
Q8N4M1	126969		<li>I->V at 438: in dbSNP:rs859098</li>									rs859098	2
Q8N4N8	84643		<li>A->V at 112: in dbSNP:rs3803824</li><li>G->R at 128: in dbSNP:rs9912492</li><li>S->P at 417: in dbSNP:rs4561518</li><li>G->R at 437: in dbSNP:rs4561519</li>									<li>rs3803824</li><li>rs4561518</li><li>rs9912492</li><li>rs4561519</li>	2
Q8N4P2	150737		<li>H->R at 117: in dbSNP:rs11694988</li><li>I->V at 446: in dbSNP:rs2695315</li>									<li>rs2695315</li><li>rs11694988</li>	2
Q8N4P6	149499		<li>R->H at 483: in dbSNP:rs12119908</li><li>S->A at 503: in dbSNP:rs822431</li>									<li>rs822431</li><li>rs12119908</li>	2
Q8N4Q0	284273		<li>C->F at 323: in dbSNP:rs17056661</li>									rs17056661	2
Q8N4S0	79780		<li>K->R at 128: in dbSNP:rs3748261</li><li>Q->E at 149: in dbSNP:rs17851661</li><li>Q->R at 327: in dbSNP:rs10831519</li>									<li>rs17851661</li><li>rs3748261</li><li>rs10831519</li>	2
Q8N4S9	153562		<li>I->T at 33: in dbSNP:rs1185246</li>									rs1185246	2
Q8N4T0	57094		<li>F->L at 45: in dbSNP:rs10957393</li><li>S->C at 173: in dbSNP:rs17853192</li><li>N->S at 249: in dbSNP:rs17343819</li>									<li>rs17853192</li><li>rs10957393</li><li>rs17343819</li>	2
Q8N4T4	84904		<li>H->R at 306: in dbSNP:rs2297879</li>									rs2297879	2
Q8N4T8	84869		<li>M->L at 70: in dbSNP:rs2877380</li>									rs2877380	2
Q8N4U5	255394		<li>A->T at 41: in dbSNP:rs4964460</li><li>A->S at 82: in dbSNP:rs11837375</li><li>D->N at 261: in dbSNP:rs17218950</li>									<li>rs17218950</li><li>rs4964460</li><li>rs11837375</li>	2
Q8N4W9	388558		<li>K->N at 134: in dbSNP:rs329964</li><li>D->N at 262: in dbSNP:rs329965</li>									<li>rs329964</li><li>rs329965</li>	2
Q8N4Y2	283229		<li>Q->R at 77: in dbSNP:rs7126805</li><li>E->K at 153: in dbSNP:rs28558789</li><li>G->S at 173: in dbSNP:rs35567200</li><li>I->S at 248: in dbSNP:rs4075289</li>									<li>rs35567200</li><li>rs4075289</li><li>rs28558789</li><li>rs7126805</li>	2
Q8N511	147007		<li>V->I at 158: in dbSNP:rs12572</li><li>L->V at 166: in dbSNP:rs36106147</li>									<li>rs36106147</li><li>rs12572</li>	2
Q8N543	55239		<li>P->S at 173: in dbSNP:rs34883368</li>									rs34883368	2
Q8N554	92822		<li>R->W at 263: in dbSNP:rs6500437</li><li>R->W at 275: may increase breast cancer risk: in dbSNP rsrs17719249</li><li>R->W at 351: in dbSNP:rs17719249</li><li>E->D at 605: in dbSNP:rs17227424</li>									<li>rs17719249</li><li>rs17227424</li><li>rs6500437</li>	2
Q8N565	55686		<li>G->R at 15: in dbSNP:rs1864253</li>									rs1864253	2
Q8N567	84240		<li>P->A at 15: in dbSNP:rs16878594</li>									rs16878594	2
Q8N568	166614		<li>G->C at 119: in dbSNP rsrs56327537</li><li>R->H at 372: in dbSNP rsrs34386880</li><li>I->V at 583: in dbSNP rsrs35745104</li>									<li>rs56327537</li><li>rs35745104</li><li>rs34386880</li>	2
Q8N573	55074		<li>E->G at 11: in dbSNP rsrs28921397</li><li>Q->P at 271: in dbSNP rsrs28921419</li><li>K->R at 427: in dbSNP rsrs28921420</li>									<li>rs28921419</li><li>rs28921397</li><li>rs28921420</li>	2
Q8N5A5	84619		<li>S->R at 61: in dbSNP:rs1291212</li>									rs1291212	2
Q8N5B7	91012		<li>C->R at 75: in dbSNP:rs7302981</li>									rs7302981	2
Q8N5C7	56986		<li>L->P at 9: in dbSNP:rs11539522</li><li>E->K at 13: in dbSNP:rs11539519</li><li>S->P at 25: in dbSNP:rs11539521</li>									<li>rs11539522</li><li>rs11539521</li><li>rs11539519</li>	2
Q8N5D6	26301		<li>L->F at 20: in dbSNP:rs2073924</li><li>S->G at 21: in dbSNP:rs35578482</li><li>L->P at 79: in dbSNP:rs12350913</li><li>R->W at 163: in dbSNP rsrs34260370</li><li>D->N at 200: in dbSNP rsrs34903033</li><li>Q->P at 238: in dbSNP:rs35366884</li><li>T->I at 248: in dbSNP rsrs35184631</li><li>I->F at 291: in dbSNP:rs35403335</li>									<li>rs35184631</li><li>rs35403335</li><li>rs34260370</li><li>rs2073924</li><li>rs35366884</li><li>rs34903033</li><li>rs12350913</li><li>rs35578482</li>	2
Q8N5F7	79576		<li>P->H at 115: in dbSNP:rs34728541</li>									rs34728541	2
Q8N5G0			<li>A->T at 41: in dbSNP:rs2305669</li><li>S->N at 65: in dbSNP:rs6448414</li><li>H->N at 76: in dbSNP:rs2305670</li><li>A->T at 109: in dbSNP:rs4521339</li>									<li>rs4521339</li><li>rs2305670</li><li>rs6448414</li><li>rs2305669</li>	2
Q8N5H7	10044		<li>L->F at 23: in dbSNP:rs10760500</li>									rs10760500	2
Q8N5I2	92714		<li>G->C at 363: in dbSNP:rs35018943</li>									rs35018943	2
Q8N5I4	207063		<li>V->L at 247: in dbSNP:rs1127915</li><li>H->R at 292: in dbSNP:rs3210910</li><li>E->K at 297: in dbSNP:rs12010</li>									<li>rs1127915</li><li>rs3210910</li><li>rs12010</li>	2
Q8N5J2	55793		<li>K->T at 385: in dbSNP:rs2925741</li>									rs2925741	2
Q8N5M1	91647		<li>W->G at 94: in ATPAF2 deficiency, MIM: 604273</li>							Q8N5M1	Complex V mitochondrial respiratory chain ATPAF2 subunit deficiency (ATPAF2 deficiency) [MIM:604273]		2
Q8N5N7	54534		<li>L->F at 127: in dbSNP:rs8131</li>									rs8131	2
Q8N5R6	80125		<li>M->V at 635: in dbSNP:rs2277603</li><li>R->L at 640: in dbSNP:rs2277604</li><li>S->N at 683: in dbSNP:rs1564782</li><li>S->Y at 940: in dbSNP:rs4887136</li>									<li>rs4887136</li><li>rs1564782</li><li>rs2277604</li><li>rs2277603</li>	2
Q8N5S1	284427		<li>G->S at 144: in dbSNP:rs34488963</li><li>T->S at 258: in dbSNP:rs11883242</li>									<li>rs11883242</li><li>rs34488963</li>	2
Q8N5S3	129852		<li>L->P at 254: in dbSNP:rs2280718</li><li>R->T at 275: in dbSNP:rs13184</li>									<li>rs13184</li><li>rs2280718</li>	2
Q8N5S9	84254		<li>E->G at 375: in dbSNP:rs7214723</li>									rs7214723	2
Q8N5T2	55296		<li>S->G at 241: in dbSNP:rs16878555</li><li>F->S at 509: in dbSNP:rs17852970</li>									<li>rs16878555</li><li>rs17852970</li>	2
Q8N5U0	160298		<li>P->S at 242: in dbSNP:rs10769671</li>									rs10769671	2
Q8N5U1	219995		<li>S->G at 20: in dbSNP:rs12363342</li><li>L->R at 47: in dbSNP:rs1032939</li>									<li>rs12363342</li><li>rs1032939</li>	2
Q8N5U6	9921		<li>L->F at 332: in dbSNP:rs17852961</li><li>E->D at 433: in dbSNP:rs16950277</li>									<li>rs16950277</li><li>rs17852961</li>	2
Q8N5V2	25791		<li>R->G at 78: in dbSNP:rs2271703</li><li>M->T at 111: in dbSNP:rs4973588</li>									<li>rs4973588</li><li>rs2271703</li>	2
Q8N5W8	196792		<li>P->L at 2: in dbSNP:rs1891110</li>									rs1891110	2
Q8N5Y2	10943		<li>K->Q at 199: in dbSNP:rs1051595</li><li>V->I at 251: in dbSNP:rs1051600</li>									<li>rs1051600</li><li>rs1051595</li>	2
Q8N5Y8	54956		<li>S->P at 280: in dbSNP:rs17852901</li>									rs17852901	2
Q8N5Z5	79734		<li>R->G at 51: in dbSNP:rs17852877</li>									rs17852877	2
Q8N612	84067		<li>M->T at 491: in dbSNP:rs3750944</li><li>R->L at 619: in dbSNP:rs3750943</li><li>Q->H at 754: in dbSNP:rs11040808</li>									<li>rs3750944</li><li>rs3750943</li><li>rs11040808</li>	2
Q8N614	80008		<li>Y->C at 48: in dbSNP:rs35576563</li><li>S->P at 105: in dbSNP:rs11542133</li><li>M->T at 212: in dbSNP:rs2276887</li>									<li>rs11542133</li><li>rs2276887</li><li>rs35576563</li>	2
Q8N628	81472		<li>T->A at 20: in dbSNP:rs6697472</li><li>P->S at 68: in dbSNP:rs6657127</li><li>R->S at 129: in dbSNP:rs34220133</li>									<li>rs34220133</li><li>rs6657127</li><li>rs6697472</li>	2
Q8N635	254528		<li>I->T at 261: in dbSNP:rs9806945</li>									rs9806945	2
Q8N655	26148		<li>N->S at 49: in dbSNP:rs11188980</li><li>L->P at 314: in dbSNP:rs7082522</li><li>E->G at 396: in dbSNP:rs35128733</li><li>P->A at 401: in dbSNP:rs34104025</li><li>I->L at 535: in dbSNP:rs3829856</li><li>T->P at 556: in dbSNP:rs7894200</li>									<li>rs3829856</li><li>rs7894200</li><li>rs35128733</li><li>rs11188980</li><li>rs7082522</li><li>rs34104025</li>	2
Q8N660	284565		<li>P->Q at 615: in dbSNP:rs6695216</li>									rs6695216	2
Q8N661	255043		<li>A->T at 176: in dbSNP:rs35608872</li><li>R->H at 199: in dbSNP:rs4644955</li>									<li>rs4644955</li><li>rs35608872</li>	2
Q8N697	121260		<li>V->A at 239: in dbSNP:rs33990080</li>									rs33990080	2
Q8N699	80177		<li>G->S at 119: in dbSNP:rs17710008</li><li>R->G at 127: in dbSNP:rs17852097</li>									<li>rs17852097</li><li>rs17710008</li>	2
Q8N6C7			<li>R->S at 73: in dbSNP:rs11878617</li><li>H->Q at 91: in dbSNP:rs3760955</li>									<li>rs11878617</li><li>rs3760955</li>	2
Q8N6C8	11026		<li>P->S at 3: in dbSNP:rs11574606</li><li>L->R at 107: in dbSNP:rs6509862</li><li>Y->H at 301: in dbSNP:rs4473306</li>									<li>rs11574606</li><li>rs6509862</li><li>rs4473306</li>	2
Q8N6D2	221687		<li>V->A at 43: in a colorectal cancer sample; somatic mutation</li><li>P->L at 58: in a colorectal cancer sample; somatic mutation</li>										2
Q8N6D5	147463		<li>V->M at 95: in a breast cancer sample; somatic mutation</li><li>G->E at 112: in dbSNP:rs17855552</li>									rs17855552	2
Q8N6F1	149461		<li>L->F at 13: in dbSNP:rs12065961</li><li>G->D at 20: in HOMGO; perinuclear retention of the mutant protein, MIM: 248190</li><li>Q->E at 57: in HOMGO; the mutant protein inserts correctly into the cell membrane although subsequent analyzes suggested that dimer formation was disrupted, MIM: 248190</li><li>L->P at 90: in HOMGO, MIM: 248190</li>					cell membrane	GO:0005886		Hypomagnesemia renal with ocular involvement (HOMGO) [MIM:248190]	rs12065961	2
Q8N6G2	122046		<li>K->N at 231: in dbSNP:rs9533168</li>									rs9533168	2
Q8N6G5	55454		<li>E->K at 215: in dbSNP:rs11238456</li><li>P->S at 479: in dbSNP:rs2435381</li>									<li>rs2435381</li><li>rs11238456</li>	2
Q8N6G6	92949		<li>S->N at 242: in dbSNP:rs776755</li>									rs776755	2
Q8N6H7	84364		<li>P->R at 143: in dbSNP:rs11542793</li><li>R->H at 339: in dbSNP:rs34662994</li><li>R->W at 406: in dbSNP:rs35950498</li><li>S->N at 411: in dbSNP:rs3740691</li>									<li>rs35950498</li><li>rs3740691</li><li>rs34662994</li><li>rs11542793</li>	2
Q8N6I1	163126		<li>A->T at 6: in dbSNP:rs7252027</li><li>E->A at 60: in dbSNP:rs3746086</li>									<li>rs3746086</li><li>rs7252027</li>	2
Q8N6K7	154075		<li>E->K at 94: in dbSNP:rs17852709</li>									rs17852709	2
Q8N6L1	200185		<li>G->V at 32: in dbSNP:rs17854920</li>									rs17854920	2
Q8N6M0	51633		<li>R->Q at 283: in dbSNP:rs3210518</li>									rs3210518	2
Q8N6M6	84909		<li>V->A at 179: in dbSNP:rs16911679</li>									rs16911679	2
Q8N6M8	132141		<li>Q->K at 76: in dbSNP:rs17852683</li><li>R->Q at 114: in dbSNP:rs11927897</li>									<li>rs17852683</li><li>rs11927897</li>	2
Q8N6N2	148014		<li>L->P at 223: in dbSNP:rs11553464</li>									rs11553464	2
Q8N6Q3	57126		<li>A->P at 3: in dbSNP rsrs45441892</li><li>L->F at 119</li><li>L->I at 251: in dbSNP:rs10425835</li><li>R->Q at 323</li><li>A->T at 348: in dbSNP:rs17856829</li><li>F->S at 379</li>									<li>rs45441892</li><li>rs10425835</li><li>rs17856829</li>	2
Q8N6Q8	84190		<li>K->Q at 249: in dbSNP:rs4296098</li>									rs4296098	2
Q8N6R0	51603		<li>M->V at 105: in dbSNP:rs2232816</li><li>M->I at 359: in dbSNP:rs2232819</li>									<li>rs2232816</li><li>rs2232819</li>	2
Q8N6S4	81573		<li>T->S at 413: in dbSNP:rs17852616</li>									rs17852616	2
Q8N6T3	55738		<li>V->M at 184: in dbSNP:rs2273499</li>									rs2273499	2
Q8N6T7	51548		<li>S->N at 46: in dbSNP:rs352493</li>									rs352493	2
Q8N6W0	60680		<li>F->L at 65: in dbSNP:rs17854481</li>									rs17854481	2
Q8N6Y0	83878		<li>M->V at 439: in dbSNP:rs9676419</li><li>V->M at 525: in dbSNP:rs12459398</li><li>A->V at 677: in dbSNP:rs1043963</li>									<li>rs1043963</li><li>rs9676419</li><li>rs12459398</li>	2
Q8N6Y1			<li>V->M at 496: in a breast cancer sample; somatic mutation</li>										2
Q8N6Y2	10234		<li>T->I at 95: in dbSNP:rs34613342</li><li>K->E at 119: in dbSNP:rs3800939</li><li>G->A at 187: in dbSNP:rs1057066</li>									<li>rs3800939</li><li>rs1057066</li><li>rs34613342</li>	2
Q8N715	164127		<li>V->A at 195: in dbSNP:rs6689850</li><li>D->G at 329: in dbSNP:rs10907376</li><li>R->W at 331: in dbSNP:rs6682552</li><li>L->R at 380: in dbSNP:rs17852896</li>									<li>rs10907376</li><li>rs6689850</li><li>rs17852896</li><li>rs6682552</li>	2
Q8N720	79027		<li>E->D at 52: in dbSNP rsrs17853754</li>									rs17853754	2
Q8N726	1029		<li>P->S at 58: in dbSNP:rs3731190</li><li>G->R at 147: in dbSNP:rs4987127</li><li>P->L at 154: in dbSNP:rs34886500</li><li>G->D at 157: in dbSNP:rs35741010</li>									<li>rs3731190</li><li>rs34886500</li><li>rs35741010</li><li>rs4987127</li>	2
Q8N729	283869		<li>D->A at 149: in dbSNP:rs2286472</li>									rs2286472	2
Q8N743	115653		<li>I->V at 168: in dbSNP rsrs270790</li>									rs270790	2
Q8N752	122011		<li>S->G at 5: in dbSNP:rs56224973</li><li>R->Q at 21: in a colorectal cancer sample; somatic mutation; dbSNP:rs56158728</li><li>R->W at 21: in dbSNP rsrs56158728</li><li>D->E at 42: in dbSNP:rs9576175</li><li>R->S at 170: in dbSNP:rs17773251</li><li>E->K at 177: in dbSNP:rs17054882</li><li>P->L at 220: in dbSNP:rs56252856</li><li>K->N at 230: in dbSNP:rs56252523</li><li>A->T at 257: in dbSNP:rs55895045</li>									<li>rs56252523</li><li>rs17773251</li><li>rs56158728</li><li>rs17054882</li><li>rs9576175</li><li>rs56224973</li><li>rs56252856</li><li>rs55895045</li>	2
Q8N766	23065		<li>L->S at 295: in dbSNP:rs3850531</li><li>S->T at 345: in dbSNP:rs709683</li><li>S->N at 347: in dbSNP:rs709682</li>									<li>rs709682</li><li>rs709683</li><li>rs3850531</li>	2
Q8N769	100132603		<li>H->Y at 26: in dbSNP:rs8015313</li>									rs8015313	2
Q8N7B1	150280		<li>A->T at 2: in dbSNP:rs34150968</li><li>V->L at 20: in dbSNP:rs34305723</li>									<li>rs34305723</li><li>rs34150968</li>	2
Q8N7B9	146779		<li>G->R at 341: in dbSNP:rs12602985</li><li>M->I at 364: in dbSNP:rs1056642</li><li>S->A at 370: in dbSNP:rs1056643</li>									<li>rs12602985</li><li>rs1056642</li><li>rs1056643</li>	2
Q8N7C0	440699		<li>D->E at 209: in dbSNP:rs17407838</li>									rs17407838	2
Q8N7C7	378925		<li>F->L at 221: in dbSNP:rs7790381</li>									rs7790381	2
Q8N7E2	158506		<li>D->E at 166: in dbSNP:rs5951426</li><li>S->F at 287: in dbSNP:rs12860105</li>									<li>rs12860105</li><li>rs5951426</li>	2
Q8N7J2	219287		<li>A->T at 457: in a colorectal cancer sample; somatic mutation</li><li>I->M at 659: in dbSNP:rs2282406</li>									rs2282406	2
Q8N7K9	100113377		<li>I->T at 20: in dbSNP:rs2108389</li><li>E->G at 201: in dbSNP:rs16991953</li><li>S->P at 214: in dbSNP:rs8105780</li><li>I->L at 442: in dbSNP:rs10411250</li>									<li>rs8105780</li><li>rs10411250</li><li>rs16991953</li><li>rs2108389</li>	2
Q8N7L0	144809		<li>R->C at 134: in dbSNP:rs35889214</li>									rs35889214	2
Q8N7M0	200132		<li>E->D at 49: in dbSNP:rs1060575</li>									rs1060575	2
Q8N7Q3	163223		<li>G->E at 27: in dbSNP:rs8104929</li><li>E->K at 96: in dbSNP:rs12986319</li><li>S->W at 292: in dbSNP:rs11671538</li>									<li>rs12986319</li><li>rs11671538</li><li>rs8104929</li>	2
Q8N7R1	285877		<li>P->T at 32: in dbSNP:rs10229800</li><li>E->Q at 75: in dbSNP:rs11238247</li><li>G->E at 199: in dbSNP:rs1689291</li>									<li>rs1689291</li><li>rs11238247</li><li>rs10229800</li>	2
Q8N7S2	285126		<li>V->G at 4: in dbSNP:rs17005979</li><li>H->R at 51: in dbSNP:rs13414011</li>									<li>rs13414011</li><li>rs17005979</li>	2
Q8N7U6	151651		<li>I->V at 329: in dbSNP:rs2931403</li><li>T->I at 380: in dbSNP:rs2929366</li><li>Q->P at 661: in dbSNP:rs9868950</li>									<li>rs2929366</li><li>rs2931403</li><li>rs9868950</li>	2
Q8N7W2	222389		<li>R->T at 313: in a breast cancer sample; somatic mutation</li>										2
Q8N7X0	79747		<li>I->T at 310: in dbSNP:rs9497606</li>									rs9497606	2
Q8N7X2	441476		<li>S->G at 126: in dbSNP:rs28657439</li>									rs28657439	2
Q8N7Z5			<li>D->N at 702: in dbSNP:rs1422698</li><li>R->G at 758: in dbSNP:rs6893216</li><li>D->E at 1609: in dbSNP:rs961098</li><li>R->K at 1777: in dbSNP:rs4489037</li>									<li>rs6893216</li><li>rs4489037</li><li>rs961098</li><li>rs1422698</li>	2
Q8N801	285051		<li>L->M at 17: in dbSNP:rs815804</li><li>Q->R at 31: in dbSNP:rs17036300</li>									<li>rs815804</li><li>rs17036300</li>	2
Q8N812	400073		<li>A->T at 26: in a colorectal cancer sample; somatic mutation</li>										2
Q8N815	124817		<li>T->P at 145: in dbSNP:rs12947820</li>									rs12947820	2
Q8N816	147184		<li>I->M at 4: in dbSNP:rs17474506</li><li>Y->H at 79: in dbSNP:rs10558</li><li>L->R at 95: in dbSNP:rs1044806</li>									<li>rs17474506</li><li>rs1044806</li><li>rs10558</li>	2
Q8N823	81856		<li>I->L at 252: in dbSNP:rs4085565</li><li>E->G at 340: in dbSNP:rs4087790</li>									<li>rs4087790</li><li>rs4085565</li>	2
Q8N824			<li>E->D at 220: in dbSNP:rs2879938</li>									rs2879938	2
Q8N831	388951		<li>A->V at 60: in dbSNP:rs6743719</li><li>G->S at 109: in dbSNP:rs843704</li><li>P->L at 116: in dbSNP:rs13424808</li><li>R->C at 246: in dbSNP:rs17189743</li>									<li>rs13424808</li><li>rs6743719</li><li>rs843704</li><li>rs17189743</li>	2
Q8N841	284076		<li>E->D at 664: in dbSNP:rs2032844</li>									rs2032844	2
Q8N865	136895		<li>Y->C at 82: in dbSNP:rs2717858</li><li>T->A at 158: in dbSNP:rs12535348</li><li>S->T at 187: in dbSNP:rs2523072</li><li>H->R at 300: in dbSNP:rs2285738</li>									<li>rs2717858</li><li>rs2523072</li><li>rs12535348</li><li>rs2285738</li>	2
Q8N878	79981		<li>R->C at 274: in dbSNP:rs902393</li><li>Q->E at 456: in dbSNP:rs1548349</li>									<li>rs1548349</li><li>rs902393</li>	2
Q8N883	80110		<li>T->I at 68: in dbSNP:rs9636139</li><li>H->R at 223: in dbSNP:rs35098634</li><li>V->I at 415: in dbSNP:rs8104890</li>									<li>rs35098634</li><li>rs9636139</li><li>rs8104890</li>	2
Q8N884	115004		<li>T->N at 35: in dbSNP:rs9352000</li><li>P->H at 261: in dbSNP:rs610913</li>									<li>rs610913</li><li>rs9352000</li>	2
Q8N895	167465		<li>A->G at 739: in dbSNP:rs13188519</li>									rs13188519	2
Q8N8A8			<li>P->S at 115: in dbSNP:rs12101356</li>									rs12101356	2
Q8N8B7			<li>S->L at 163: in dbSNP:rs2361159</li>									rs2361159	2
Q8N8D7	286183		<li>V->I at 140: in dbSNP:rs4739003</li>									rs4739003	2
Q8N8E3	201134		<li>K->E at 551: in dbSNP:rs17704679</li>									rs17704679	2
Q8N8F6	285525		<li>A->T at 54: in dbSNP:rs2348353</li>									rs2348353	2
Q8N8G6	400360		<li>T->M at 59: in dbSNP:rs11853050</li><li>E->K at 77: in dbSNP:rs16968547</li>									<li>rs16968547</li><li>rs11853050</li>	2
Q8N8I6	284185		<li>V->L at 50: in dbSNP:rs2056439</li><li>R->C at 119: in dbSNP:rs2048058</li>									<li>rs2048058</li><li>rs2056439</li>	2
Q8N8I7			<li>G->S at 128: in dbSNP:rs11995303</li>									rs11995303	2
Q8N8J6	284370		<li>T->M at 129: in dbSNP:rs10500311</li><li>T->I at 360: in dbSNP:rs1978717</li><li>R->K at 727: in dbSNP:rs16983353</li>									<li>rs16983353</li><li>rs1978717</li><li>rs10500311</li>	2
Q8N8J7	132720		<li>P->Q at 46: in dbSNP:rs17852081</li>									rs17852081	2
Q8N8M0	375607		<li>S->F at 63: in dbSNP:rs34985488</li>									rs34985488	2
Q8N8Q3	284131		<li>V->I at 29: in dbSNP:rs35549084</li><li>R->Q at 112: in dbSNP:rs34933300</li><li>K->R at 114: in dbSNP rsrs41298706</li><li>H->Y at 141: in dbSNP rsrs41299812</li><li>D->N at 201: in dbSNP:rs35929621</li>									<li>rs41298706</li><li>rs35929621</li><li>rs34933300</li><li>rs35549084</li><li>rs41299812</li>	2
Q8N8R7	120534		<li>T->P at 180: in dbSNP:rs7940297</li>									rs7940297	2
Q8N8U3	203430		<li>P->S at 117: in dbSNP:rs4077512</li>									rs4077512	2
Q8N8U9	168667		<li>R->W at 555: in dbSNP:rs10249320</li>									rs10249320	2
Q8N8V2	388646		<li>I->T at 14: in dbSNP:rs676913</li><li>G->R at 618: in dbSNP:rs1886297</li>									<li>rs676913</li><li>rs1886297</li>	2
Q8N8V8	284186		<li>R->W at 122: in dbSNP:rs9916085</li>									rs9916085	2
Q8N8W4	285848		<li>H->P at 423: in dbSNP:rs12199580</li><li>T->M at 490: in dbSNP:rs12197079</li><li>S->P at 522: in dbSNP:rs4713956</li>									<li>rs4713956</li><li>rs12197079</li><li>rs12199580</li>	2
Q8N8W7	378832		<li>A->T at 13: in dbSNP:rs8131523</li><li>A->V at 97: in dbSNP:rs2838920</li>									<li>rs2838920</li><li>rs8131523</li>	2
Q8N8Y2	245972		<li>G->R at 272: in dbSNP:rs10094744</li><li>E->K at 295: in dbSNP:rs4263741</li>									<li>rs4263741</li><li>rs10094744</li>	2
Q8N944	205147		<li>P->S at 340: in dbSNP:rs1905235</li>									rs1905235	2
Q8N945	153768		<li>N->S at 99: in dbSNP:rs9324996</li>									rs9324996	2
Q8N960	153241		<li>L->V at 602: in dbSNP:rs6595440</li><li>Q->H at 879: in dbSNP:rs1047437</li><li>V->I at 936: in dbSNP:rs2303721</li><li>R->H at 947: in dbSNP:rs2303720</li>									<li>rs6595440</li><li>rs1047437</li><li>rs2303720</li><li>rs2303721</li>	2
Q8N961	25841		<li>H->Q at 64: in dbSNP:rs1925368</li><li>T->A at 732: in dbSNP:rs2473928</li>									<li>rs2473928</li><li>rs1925368</li>	2
Q8N999	91298		<li>P->L at 23: in dbSNP:rs11541954</li><li>V->L at 238: in dbSNP:rs9262</li>									<li>rs9262</li><li>rs11541954</li>	2
Q8N9B4	338699		<li>N->D at 198: in dbSNP:rs17515016</li>									rs17515016	2
Q8N9B5	133746		<li>M->L at 364: in dbSNP:rs13182512</li><li>A->V at 592: in dbSNP:rs12109475</li><li>H->R at 720: in dbSNP:rs16876657</li>									<li>rs12109475</li><li>rs13182512</li><li>rs16876657</li>	2
Q8N9C0	283284		<li>A->P at 94: in dbSNP:rs10832975</li><li>L->R at 130: in dbSNP:rs3740710</li><li>V->I at 414: in dbSNP:rs10766494</li><li>R->Q at 472: in dbSNP:rs4424652</li><li>S->I at 503: in dbSNP:rs3887899</li><li>M->V at 559: in dbSNP:rs7125943</li><li>L->F at 677: in dbSNP:rs11024769</li>									<li>rs10832975</li><li>rs7125943</li><li>rs11024769</li><li>rs3887899</li><li>rs4424652</li><li>rs3740710</li><li>rs10766494</li>	2
Q8N9E0	286499		<li>E->K at 67: in dbSNP:rs34123774</li>									rs34123774	2
Q8N9F8	285676		<li>D->A at 166: in dbSNP:rs12719860</li>									rs12719860	2
Q8N9H6	286122		<li>L->P at 39: in dbSNP:rs11136300</li>									rs11136300	2
Q8N9H8	54932		<li>Q->R at 220: in dbSNP:rs7389423</li>									rs7389423	2
Q8N9H9	148345		<li>A->V at 530: in dbSNP:rs1281018</li>									rs1281018	2
Q8N9K5	147929		<li>I->T at 188: in dbSNP:rs4805162</li>									rs4805162	2
Q8N9K7			<li>Q->H at 18: in dbSNP:rs2272624</li><li>S->T at 111: in dbSNP:rs17179534</li>									<li>rs2272624</li><li>rs17179534</li>	2
Q8N9L9	122970		<li>R->C at 57: in dbSNP:rs3742819</li><li>A->D at 187: in dbSNP:rs35724886</li>									<li>rs3742819</li><li>rs35724886</li>	2
Q8N9M5	284114		<li>A->V at 110: in dbSNP:rs3809718</li>									rs3809718	2
Q8N9N8	84285		<li>D->N at 23: in dbSNP:rs17849919</li><li>S->N at 159: in dbSNP:rs2276017</li>									<li>rs17849919</li><li>rs2276017</li>	2
Q8N9P6	158055		<li>L->P at 5: in dbSNP:rs34376913</li>									rs34376913	2
Q8N9R6	284040		<li>V->I at 73: in dbSNP:rs3744332</li><li>H->Q at 122: in dbSNP:rs2954759</li>									<li>rs2954759</li><li>rs3744332</li>	2
Q8N9R8	286205		<li>T->A at 37: in dbSNP:rs589292</li>									rs589292	2
Q8N9S9	169166		<li>D->H at 73: in dbSNP:rs2187016</li><li>Q->R at 309: in dbSNP:rs2248609</li><li>D->G at 428: in dbSNP:rs2022923</li>									<li>rs2022923</li><li>rs2248609</li><li>rs2187016</li>	2
Q8N9T8	65095		<li>T->A at 5: in dbSNP:rs3218222</li><li>G->R at 144: in dbSNP:rs12984043</li><li>E->A at 185: in dbSNP:rs11545166</li><li>E->K at 272: in dbSNP:rs3745249</li><li>S->L at 315: in dbSNP:rs34743532</li><li>R->W at 342: in dbSNP:rs33999611</li><li>E->Q at 355: in dbSNP:rs3826709</li><li>L->P at 451: in dbSNP:rs1982074</li><li>S->P at 709: in dbSNP:rs3087689</li>									<li>rs12984043</li><li>rs3745249</li><li>rs11545166</li><li>rs1982074</li><li>rs34743532</li><li>rs3826709</li><li>rs33999611</li><li>rs3218222</li><li>rs3087689</li>	2
Q8N9U0	123036		<li>T->K at 151: in dbSNP:rs2402073</li><li>S->N at 172: in dbSNP:rs8020529</li>									<li>rs2402073</li><li>rs8020529</li>	2
Q8N9V2	339976		<li>D->H at 21: in a breast cancer sample; somatic mutation</li><li>E->K at 132: in dbSNP:rs13131525</li>									rs13131525	2
Q8N9V3	151525		<li>K->T at 215: in dbSNP:rs16843852</li><li>H->D at 223: in dbSNP:rs17852677</li><li>R->S at 320: in dbSNP:rs7591849</li>									<li>rs7591849</li><li>rs16843852</li><li>rs17852677</li>	2
Q8N9V6	79998		<li>L->I at 153: in dbSNP:rs17853403</li><li>M->T at 243: in dbSNP:rs36123544</li>									<li>rs36123544</li><li>rs17853403</li>	2
Q8N9V7	375337		<li>R->C at 43: in dbSNP:rs9833423</li><li>Q->P at 88: in dbSNP:rs7645375</li><li>V->I at 196: in dbSNP:rs9284879</li><li>Q->R at 483: in dbSNP:rs17076541</li><li>P->A at 673: in dbSNP:rs17646517</li><li>K->E at 796: in dbSNP:rs17076545</li><li>Q->R at 1352: in dbSNP:rs11921568</li>									<li>rs17076545</li><li>rs17646517</li><li>rs9833423</li><li>rs17076541</li><li>rs7645375</li><li>rs11921568</li><li>rs9284879</li>	2
Q8N9W4			<li>R->G at 43: in dbSNP:rs2344900</li><li>N->H at 54: in dbSNP:rs3866720</li><li>E->G at 64: in dbSNP:rs2344899</li><li>W->R at 191: in dbSNP:rs4778531</li><li>R->P at 235: in dbSNP:rs12594944</li>									<li>rs4778531</li><li>rs3866720</li><li>rs12594944</li><li>rs2344899</li><li>rs2344900</li>	2
Q8N9Y4	90050		<li>A->T at 28: in dbSNP:rs10141024</li>									rs10141024	2
Q8N9Z0	162963		<li>V->M at 104: in dbSNP:rs3815905</li><li>A->S at 131: in dbSNP:rs2241586</li><li>R->P at 216: in dbSNP:rs321937</li><li>R->I at 298: in dbSNP:rs7343101</li>									<li>rs2241586</li><li>rs3815905</li><li>rs7343101</li><li>rs321937</li>	2
Q8N9Z9	160492		<li>A->T at 264: in dbSNP:rs35450203</li><li>E->G at 267: in dbSNP:rs34326830</li><li>T->A at 289: in dbSNP:rs34732786</li><li>A->T at 290: in dbSNP:rs34074522</li><li>S->T at 366: in dbSNP:rs1479500</li>									<li>rs34074522</li><li>rs34732786</li><li>rs35450203</li><li>rs1479500</li><li>rs34326830</li>	2
Q8NA03	161835		<li>N->D at 64: in dbSNP:rs1166719</li><li>R->H at 354: in dbSNP:rs937961</li><li>E->G at 374: in dbSNP:rs16969673</li><li>C->R at 402: in dbSNP:rs10152640</li><li>L->F at 411: in dbSNP:rs12908846</li><li>G->A at 528: in dbSNP:rs16969386</li>									<li>rs12908846</li><li>rs16969386</li><li>rs10152640</li><li>rs16969673</li><li>rs937961</li><li>rs1166719</li>	2
Q8NA23	114987		<li>P->S at 113: in dbSNP:rs10817479</li>									rs10817479	2
Q8NA47	160762		<li>L->S at 212: in dbSNP:rs12371434</li>									rs12371434	2
Q8NA54	154865		<li>V->M at 126: in dbSNP:rs10255061</li><li>D->N at 691: in dbSNP:rs17146009</li><li>R->H at 735: in a colorectal cancer sample; somatic mutation</li><li>R->P at 735: in dbSNP:rs1525626</li>									<li>rs1525626</li><li>rs17146009</li><li>rs10255061</li>	2
Q8NA56	83894		<li>L->P at 94: in dbSNP:rs35123039</li><li>H->Y at 140: in dbSNP:rs17610219</li><li>A->T at 276: in dbSNP:rs10013280</li>									<li>rs17610219</li><li>rs35123039</li><li>rs10013280</li>	2
Q8NA57	160419		<li>Q->R at 306: in dbSNP:rs10777084</li><li>R->H at 322: in dbSNP:rs11104703</li>									<li>rs10777084</li><li>rs11104703</li>	2
Q8NA61	220082		<li>K->E at 329: in dbSNP:rs7317245</li>									rs7317245	2
Q8NA66	168975		<li>D->N at 64: in dbSNP:rs10504829</li><li>Q->K at 69: in dbSNP:rs16894901</li>									<li>rs16894901</li><li>rs10504829</li>	2
Q8NA69	374877		<li>D->G at 256: in dbSNP:rs484870</li><li>Y->N at 396: in dbSNP:rs3826736</li><li>Y->N at 434: in dbSNP:rs475923</li><li>P->S at 497: in dbSNP:rs1133378</li><li>L->P at 500: in dbSNP:rs608144</li>									<li>rs608144</li><li>rs1133378</li><li>rs475923</li><li>rs3826736</li><li>rs484870</li>	2
Q8NA72	134359		<li>H->R at 36: in dbSNP:rs2307111</li><li>I->T at 85: in dbSNP:rs17672542</li><li>A->T at 446: in dbSNP:rs34678567</li>									<li>rs17672542</li><li>rs34678567</li><li>rs2307111</li>	2
Q8NA82	162333		<li>G->E at 241: in dbSNP:rs17853369</li><li>S->F at 319: in dbSNP:rs9891498</li><li>E->K at 742: in dbSNP:rs16946335</li>									<li>rs9891498</li><li>rs17853369</li><li>rs16946335</li>	2
Q8NA92	199745		<li>R->H at 70: in dbSNP:rs3810449</li><li>K->R at 112: in dbSNP:rs3810450</li><li>P->S at 157: in dbSNP:rs34250145</li><li>R->Q at 185: in dbSNP:rs10421966</li><li>R->W at 189: in dbSNP:rs10420353</li>									<li>rs3810450</li><li>rs34250145</li><li>rs3810449</li><li>rs10421966</li><li>rs10420353</li>	2
Q8NAA4	89849		<li>R->W at 220: in dbSNP:rs11235604</li>									rs11235604	2
Q8NAA6	400359		<li>L->V at 3: in dbSNP:rs7165988</li><li>A->V at 39: in dbSNP:rs11857596</li>									<li>rs7165988</li><li>rs11857596</li>	2
Q8NAC3	84818		<li>S->L at 182: in dbSNP:rs708567</li>									rs708567	2
Q8NAE3			<li>F->V at 96: in dbSNP:rs4551616</li>									rs4551616	2
Q8NAG6			<li>L->Q at 80: in dbSNP:rs8108174</li><li>L->W at 170: in dbSNP:rs2363956</li><li>P->T at 297: in dbSNP:rs891017</li><li>R->Q at 395: in dbSNP:rs11086065</li><li>V->M at 407: in dbSNP:rs34112069</li>									<li>rs8108174</li><li>rs34112069</li><li>rs11086065</li><li>rs891017</li><li>rs2363956</li>	2
Q8NAM6	201516		<li>E->K at 387: in dbSNP:rs11668570</li>									rs11668570	2
Q8NAP3	253461		<li>S->A at 319: in dbSNP:rs16851435</li><li>T->M at 615: in dbSNP:rs17787670</li><li>A->T at 809: in dbSNP:rs3732867</li>									<li>rs17787670</li><li>rs16851435</li><li>rs3732867</li>	2
Q8NAP8			<li>E->K at 181: in a colorectal cancer sample; somatic mutation</li>										2
Q8NAT2	163589		<li>M->T at 104: in dbSNP:rs12066948</li><li>F->V at 239: in dbSNP:rs12069976</li><li>K->E at 358: in dbSNP:rs6704505</li><li>E->K at 722: in dbSNP:rs35448215</li>									<li>rs35448215</li><li>rs12066948</li><li>rs12069976</li><li>rs6704505</li>	2
Q8NAT9			<li>M->R at 32: in dbSNP:rs1017522</li>									rs1017522	2
Q8NAX2	126695		<li>Q->R at 100: in dbSNP:rs17360994</li><li>R->W at 107: in dbSNP:rs3010109</li><li>K->R at 189: in dbSNP:rs34291506</li><li>R->H at 312: in a colorectal cancer sample; somatic mutation</li>									<li>rs34291506</li><li>rs3010109</li><li>rs17360994</li>	2
Q8NB12	150572		<li>Q->P at 164: in dbSNP:rs1542087</li>									rs1542087	2
Q8NB16	197259		<li>S->T at 52: in dbSNP rsrs34251827</li><li>D->E at 100: in dbSNP:rs33987771</li><li>S->P at 132: in dbSNP rsrs35589326</li><li>R->Q at 146: in dbSNP:rs34515646</li><li>M->L at 169: in dbSNP rsrs55929310</li><li>L->P at 291: in a gastric adenocarcinoma sample; somatic mutation</li><li>T->M at 364: in dbSNP:rs34389205</li><li>F->I at 398: in a gastric adenocarcinoma sample; somatic mutation</li><li>R->H at 421: in dbSNP rsrs55987292</li>									<li>rs33987771</li><li>rs35589326</li><li>rs34515646</li><li>rs34389205</li><li>rs55929310</li><li>rs55987292</li><li>rs34251827</li>	2
Q8NB25	79632		<li>Q->H at 174: in dbSNP:rs34681930</li><li>V->G at 177: in dbSNP:rs34977570</li><li>D->N at 599: in dbSNP:rs17827619</li>									<li>rs17827619</li><li>rs34977570</li><li>rs34681930</li>	2
Q8NB49	286410		<li>C->W at 114: in dbSNP:rs2491014</li><li>T->I at 157: in a colorectal cancer sample; somatic mutation</li><li>Q->P at 931: in a colorectal cancer sample; somatic mutation</li>									rs2491014	2
Q8NB66	440279		<li>S->L at 942: in dbSNP:rs17731958</li>									rs17731958	2
Q8NB90	166378		<li>S->C at 27: in dbSNP:rs35430470</li><li>S->Y at 673: in dbSNP:rs35133326</li>									<li>rs35133326</li><li>rs35430470</li>	2
Q8NBB2	283687		<li>V->A at 62: in dbSNP:rs2733102</li>									rs2733102	2
Q8NBB6			<li>V->M at 28: in dbSNP:rs311888</li>									rs311888	2
Q8NBF1	148979		<li>T->A at 110: in dbSNP:rs4307514</li><li>F->L at 157: in dbSNP:rs34961060</li><li>A->G at 187: in dbSNP:rs35227000</li>									<li>rs34961060</li><li>rs35227000</li><li>rs4307514</li>	2
Q8NBF2	374354		<li>V->I at 314: in dbSNP:rs7913176</li>									rs7913176	2
Q8NBF6	23080		<li>C->S at 257: in dbSNP:rs2290213</li>									rs2290213	2
Q8NBI3	374946		<li>L->F at 37: in dbSNP:rs11121804</li>									rs11121804	2
Q8NBI5	29015		<li>P->L at 53: in dbSNP:rs34799622</li>									rs34799622	2
Q8NBJ4	51280		<li>H->R at 217: in dbSNP:rs2297002</li>									rs2297002	2
Q8NBJ9	51092		<li>T->M at 631: in dbSNP:rs12285035</li><li>V->I at 636: in dbSNP:rs17120425</li>									<li>rs17120425</li><li>rs12285035</li>	2
Q8NBL1	56983		<li>K->R at 75: in dbSNP:rs11556605</li><li>P->T at 229: in dbSNP:rs17852785</li>									<li>rs17852785</li><li>rs11556605</li>	2
Q8NBL3	130733		<li>L->V at 107: in dbSNP:rs17852679</li>									rs17852679	2
Q8NBM8	78991		<li>P->A at 5: in dbSNP:rs2291814</li><li>A->T at 316: in dbSNP:rs35552800</li><li>E->D at 390: in dbSNP:rs4705336</li>									<li>rs4705336</li><li>rs35552800</li><li>rs2291814</li>	2
Q8NBP5	84804		<li>G->A at 59: in a breast cancer sample; somatic mutation</li><li>V->A at 84: in a breast cancer sample; somatic mutation</li><li>A->S at 129: in dbSNP:rs7601509</li><li>I->T at 288: in dbSNP:rs33993717</li>									<li>rs33993717</li><li>rs7601509</li>	2
Q8NBQ7	282679		<li>G->S at 102: in dbSNP:rs2276415</li>									rs2276415	2
Q8NBR9			<li>P->T at 22: in dbSNP:rs12421329</li>									rs12421329	2
Q8NBS3	83959		<li>N->T at 72</li><li>M->V at 91</li><li>N->S at 150: in dbSNP:rs34520315</li><li>A->T at 160</li><li>S->P at 213: in CDPD, MIM: 217400</li><li>A->V at 327, MIM: 217400</li><li>E->K at 399: in individuals with Fuchs endothelial corneal dystrophy late-onset; affects protein processing and transport to the cell surface, MIM: 217400</li><li>Q->H at 408, MIM: 217400</li><li>K->N at 409, MIM: 217400</li><li>G->D at 464: in CHED2; affects protein processing and transport to the cell surface, MIM: 217700</li><li>M->T at 483, MIM: 217700</li><li>R->K at 488: in CDPD, MIM: 217400</li><li>S->L at 489: in CHED2; affects protein processing and transport to the cell surface, MIM: 217700</li><li>T->M at 561, MIM: 217700</li><li>S->L at 565, MIM: 217700</li><li>T->A at 708, MIM: 217700</li><li>G->E at 709: in individuals with Fuchs endothelial corneal dystrophy late-onset; affects protein processing and transport to the cell surface, MIM: 217700</li><li>T->M at 754: in individuals with Fuchs endothelial corneal dystrophy late-onset; affects protein processing and transport to the cell surface, MIM: 217700</li><li>R->Q at 755: in CHED2; affects protein processing and transport to the cell surface, MIM: 217700</li><li>R->H at 804: in CHED2, MIM: 217700</li><li>V->M at 824: in CHED2; deafness not assessed, MIM: 217700</li><li>T->M at 833: in CHED2, MIM: 217700</li><li>L->P at 843: in CDPD, MIM: 217400</li><li>M->I at 848: in dbSNP:rs34224785, MIM: 217400</li><li>M->V at 856: in CDPD, MIM: 217400</li><li>R->C at 869: in CHED2; affects protein processing and transport to the cell surface, MIM: 217700</li><li>R->H at 869: in CHED2, MIM: 217700</li>	<li>protein processing</li><li>transport</li>	<li>GO:0016485</li><li>GO:0006810</li>			cell surface	GO:0009928,GO:0009986		<li>Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]</li><li>Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400]</li>	<li>rs34520315</li><li>rs34224785</li>	2
Q8NBU5	84896		<li>V->I at 107: in a colorectal cancer sample; somatic mutation</li>										2
Q8NBU9	100129680		<li>L->F at 105: in dbSNP:rs8113645</li>									rs8113645	2
Q8NBV4	84814		<li>T->M at 174: in dbSNP:rs2966332</li><li>L->V at 267: in dbSNP:rs11244366</li>									<li>rs11244366</li><li>rs2966332</li>	2
Q8NBV8	90019		<li>R->C at 120: in dbSNP:rs564271</li><li>F->I at 129: in dbSNP:rs34141314</li><li>R->Q at 143: in dbSNP:rs907608</li><li>T->M at 152: in dbSNP:rs907609</li>									<li>rs907609</li><li>rs34141314</li><li>rs564271</li><li>rs907608</li>	2
Q8NBW4	153129		<li>T->S at 182: in dbSNP:rs4865615</li>									rs4865615	2
Q8NBX0	51097		<li>G->R at 418: in dbSNP:rs7779</li>									rs7779	2
Q8NC01	51267		<li>G->A at 26: in dbSNP:rs2306894</li>									rs2306894	2
Q8NC24	285613		<li>S->P at 128: in dbSNP:rs17855845</li><li>L->I at 133: in dbSNP:rs14251</li><li>G->R at 196: in dbSNP:rs17855844</li><li>Q->E at 283: in dbSNP:rs11742646</li>									<li>rs17855844</li><li>rs11742646</li><li>rs17855845</li><li>rs14251</li>	2
Q8NC26	163071		<li>H->N at 99: in dbSNP:rs35802964</li><li>V->A at 207: in dbSNP:rs16981956</li>									<li>rs16981956</li><li>rs35802964</li>	2
Q8NC42	284996		<li>E->K at 7: in a breast cancer sample; somatic mutation</li><li>S->G at 9: in dbSNP:rs11123868</li><li>L->F at 344: in dbSNP:rs17856945</li><li>D->E at 356: in dbSNP:rs13151</li>									<li>rs17856945</li><li>rs13151</li><li>rs11123868</li>	2
Q8NC44	79137		<li>R->H at 374: in dbSNP:rs3210652</li><li>P->Q at 419: in dbSNP:rs3731900</li>									<li>rs3210652</li><li>rs3731900</li>	2
Q8NC60	84273		<li>A->S at 153: in dbSNP:rs3733306</li><li>K->R at 450: in dbSNP:rs11553077</li><li>Q->R at 579: in a breast cancer sample; somatic mutation</li>									<li>rs3733306</li><li>rs11553077</li>	2
Q8NC67	81831		<li>S->T at 456: in dbSNP:rs2231983</li>									rs2231983	2
Q8NC96	25977		<li>D->N at 224: in dbSNP:rs2231752</li>									rs2231752	2
Q8NCB2	79012		<li>R->W at 40: in a colorectal adenocarcinoma sample; somatic mutation</li><li>G->S at 60: in an ovarian serous carcinoma sample; somatic mutation</li><li>R->W at 274: in a colorectal adenocarcinoma sample; somatic mutation</li><li>E->D at 279: in dbSNP rsrs56071455</li><li>P->L at 472: in dbSNP rsrs56307047</li><li>Y->C at 491: in dbSNP:rs17849325</li>									<li>rs17849325</li><li>rs56307047</li><li>rs56071455</li>	2
Q8NCE0	80746		<li>R->H at 41: in dbSNP:rs12495784</li><li>R->H at 126: in dbSNP:rs33955793</li><li>Y->C at 309: in PCH2B, MIM: 612389</li>								Pontocerebellar hypoplasia type 2B (PCH2B) [MIM:612389]	<li>rs12495784</li><li>rs33955793</li>	2
Q8NCF5	84901		<li>R->W at 33: in dbSNP:rs7201257</li>									rs7201257	2
Q8NCG5	10164		<li>H->Q at 361: in dbSNP:rs3813744</li>									rs3813744	2
Q8NCI6	112937		<li>R->P at 121: in dbSNP:rs472287</li><li>V->M at 431: in dbSNP:rs2509062</li>									<li>rs472287</li><li>rs2509062</li>	2
Q8NCK7	162515		<li>D->G at 127: in dbSNP:rs13342692</li>									rs13342692	2
Q8NCL4	11226		<li>V->I at 423: in dbSNP:rs747300</li>									rs747300	2
Q8NCL8	89894		<li>C->G at 22: in dbSNP:rs3752630</li>									rs3752630	2
Q8NCL9	164284		<li>C->R at 30: in dbSNP:rs3946003</li><li>Y->H at 80: in dbSNP:rs7265854</li><li>R->Q at 83: in dbSNP:rs7265902</li><li>R->C at 261: in dbSNP:rs16981999</li>									<li>rs7265854</li><li>rs3946003</li><li>rs16981999</li><li>rs7265902</li>	2
Q8NCM8			<li>T->P at 302: in dbSNP:rs12803695</li><li>Q->L at 304: in dbSNP:rs12146610</li><li>H->Y at 341: in dbSNP:rs17301182</li><li>R->Q at 456: in dbSNP:rs17099969</li><li>R->K at 789: in dbSNP:rs7358374</li><li>R->K at 1221: in dbSNP:rs12794914</li><li>T->A at 1288: in dbSNP:rs17301750</li><li>K->R at 1413: in dbSNP:rs688906</li><li>Q->R at 2871: in dbSNP:rs589623</li><li>A->V at 3680: in dbSNP:rs10895391</li><li>S->N at 3976: in dbSNP:rs4754914</li><li>Q->P at 4139: in dbSNP:rs1793493</li>									<li>rs17301750</li><li>rs17099969</li><li>rs12803695</li><li>rs17301182</li><li>rs688906</li><li>rs12794914</li><li>rs589623</li><li>rs4754914</li><li>rs1793493</li><li>rs7358374</li><li>rs12146610</li><li>rs10895391</li>	2
Q8NCN5	55066		<li>Y->H at 109: in dbSNP:rs2549532</li>									rs2549532	2
Q8NCP5	29068		<li>K->E at 185: in dbSNP:rs17857365</li>									rs17857365	2
Q8NCQ5	201456		<li>Y->H at 420: in dbSNP:rs35815390</li>									rs35815390	2
Q8NCQ7	147011		<li>D->A at 245: in dbSNP:rs1077127</li><li>E->K at 320: in dbSNP:rs3744637</li>									<li>rs1077127</li><li>rs3744637</li>	2
Q8NCR0	148789		<li>N->S at 203: in a breast cancer sample; somatic mutation</li>										2
Q8NCR3	160140		<li>W->L at 183: in dbSNP:rs17857489</li><li>F->L at 242: in dbSNP:rs17855010</li>									<li>rs17857489</li><li>rs17855010</li>	2
Q8NCR6	84688		<li>P->Q at 233: in dbSNP:rs17852663</li>									rs17852663	2
Q8NCR9	119467		<li>F->I at 75: in dbSNP:rs35070529</li>									rs35070529	2
Q8NCT1			<li>A->T at 79: in dbSNP:rs12101554</li><li>S->P at 347: in dbSNP:rs17856817</li><li>P->S at 358: in dbSNP:rs2130882</li>									<li>rs2130882</li><li>rs12101554</li><li>rs17856817</li>	2
Q8NCU4	57577		<li>R->W at 374: in dbSNP:rs17603649</li><li>E->D at 696: in dbSNP:rs6784095</li>									<li>rs17603649</li><li>rs6784095</li>	2
Q8NCV1	161931		<li>G->E at 44: in dbSNP:rs8044695</li><li>G->R at 307: in dbSNP:rs11149631</li>									<li>rs8044695</li><li>rs11149631</li>	2
Q8NCW5	128240		<li>V->L at 19: in dbSNP:rs7516274</li>									rs7516274	2
Q8NCW6	63917		<li>P->S at 151: in dbSNP:rs6464201</li><li>D->Y at 197: in dbSNP:rs3778922</li>									<li>rs6464201</li><li>rs3778922</li>	2
Q8NCX0	284992		<li>E->K at 156: in dbSNP:rs34133636</li>									rs34133636	2
Q8ND04	55181		<li>P->L at 280: in dbSNP:rs8068240</li>									rs8068240	2
Q8ND07	80127		<li>K->E at 496: in dbSNP:rs3742809</li>									rs3742809	2
Q8ND23	90668		<li>L->M at 1022: in dbSNP:rs10146906</li>									rs10146906	2
Q8ND30	8495		<li>G->R at 658: in dbSNP:rs4758209</li>									rs4758209	2
Q8ND56	26065		<li>R->Q at 448: in dbSNP:rs2274896</li>									rs2274896	2
Q8ND61	84077		<li>G->D at 42: in dbSNP:rs17040154</li><li>D->N at 65: in dbSNP:rs9821143</li><li>A->T at 176: in dbSNP:rs17040196</li><li>S->Y at 230: in dbSNP:rs17852774</li><li>A->T at 298: in dbSNP:rs17040196</li><li>I->V at 407: in dbSNP:rs6765537</li><li>L->V at 422: in dbSNP:rs6790129</li>									<li>rs17040154</li><li>rs6765537</li><li>rs17852774</li><li>rs6790129</li><li>rs17040196</li><li>rs9821143</li>	2
Q8ND71	155038		<li>I->T at 301: in dbSNP:rs2293283</li>									rs2293283	2
Q8ND90	9240		<li>M->V at 54: in dbSNP:rs35129712</li><li>R->P at 215: in dbSNP:rs34413931</li>									<li>rs34413931</li><li>rs35129712</li>	2
Q8NDB2	55024		<li>R->H at 61: influences susceptibility to SLE; dbSNP:rs10516487</li><li>A->T at 383: influences susceptibility to SLE; dbSNP:rs3733197</li><li>R->C at 650: in dbSNP:rs3113676</li>									<li>rs3733197</li><li>rs3113676</li><li>rs10516487</li>	2
Q8NDD1	128061		<li>L->V at 28: in dbSNP:rs2274067</li>									rs2274067	2
Q8NDH2			<li>P->S at 30: in dbSNP:rs11843669</li><li>M->V at 94: in dbSNP:rs17592459</li><li>G->S at 264: in dbSNP:rs9518825</li><li>S->P at 314: in dbSNP:rs9300758</li><li>L->P at 347: in dbSNP:rs9300757</li><li>G->A at 382: in dbSNP:rs17507841</li><li>R->T at 1015: in dbSNP:rs7982465</li><li>N->S at 1121: in dbSNP:rs7983175</li><li>R->Q at 1209: in dbSNP:rs17592438</li><li>F->L at 1287: in dbSNP:rs7335290</li><li>L->P at 1382: in dbSNP:rs6491707</li><li>R->C at 1446: in dbSNP:rs9300756</li><li>T->M at 1483: in dbSNP:rs17507827</li><li>E->A at 1879: in dbSNP:rs9514051</li><li>K->E at 1915: in dbSNP:rs9554897</li>									<li>rs9554897</li><li>rs11843669</li><li>rs7983175</li><li>rs9514051</li><li>rs7982465</li><li>rs7335290</li><li>rs17507841</li><li>rs9300758</li><li>rs9300757</li><li>rs17592459</li><li>rs9300756</li><li>rs17592438</li><li>rs6491707</li><li>rs17507827</li><li>rs9518825</li>	2
Q8NDI1	23301		<li>R->T at 395: in a breast cancer sample; somatic mutation</li><li>K->Q at 755: in dbSNP:rs17432615</li>									rs17432615	2
Q8NDL9	60509		<li>G->D at 649: in dbSNP:rs35804461</li>									rs35804461	2
Q8NDM7	80217		<li>I->T at 394: in dbSNP:rs10883979</li><li>L->F at 617: in dbSNP:rs35901897</li><li>V->I at 635: in dbSNP:rs17116635</li><li>A->S at 836: in dbSNP:rs12262825</li>									<li>rs10883979</li><li>rs12262825</li><li>rs17116635</li><li>rs35901897</li>	2
Q8NDN9	55213		<li>A->V at 24: in dbSNP:rs4942848</li><li>T->I at 500</li>									rs4942848	2
Q8NDP4	90594		<li>P->S at 6: in dbSNP:rs10421552</li><li>L->S at 427: in dbSNP:rs10500209</li>									<li>rs10500209</li><li>rs10421552</li>	2
Q8NDQ6	163255		<li>D->V at 53: in dbSNP:rs1975937</li><li>K->I at 275: in a colorectal cancer sample; somatic mutation</li>									rs1975937	2
Q8NDV3	27127		<li>F->V at 473: in dbSNP:rs136603</li><li>L->M at 1050: in dbSNP:rs5764698</li>									<li>rs5764698</li><li>rs136603</li>	2
Q8NDW4	57209		<li>K->E at 218: in dbSNP:rs11011379</li>									rs11011379	2
Q8NDW8	199223		<li>R->Q at 91: in dbSNP:rs1112438</li><li>V->L at 108: in dbSNP:rs17855763</li><li>R->K at 290: in dbSNP:rs1274972</li><li>E->K at 293: in dbSNP:rs1274971</li><li>R->W at 622: in dbSNP:rs35581078</li><li>R->Q at 719: in dbSNP:rs9861353</li><li>R->L at 1055: in dbSNP:rs35934336</li><li>S->R at 1160: in dbSNP:rs34201693</li><li>K->R at 1316: in dbSNP:rs704959</li>									<li>rs9861353</li><li>rs704959</li><li>rs35934336</li><li>rs35581078</li><li>rs1274972</li><li>rs1112438</li><li>rs34201693</li><li>rs1274971</li><li>rs17855763</li>	2
Q8NDX1	23550		<li>G->R at 83: in dbSNP:rs1562277</li><li>S->P at 233: in dbSNP:rs12472091</li><li>G->A at 269: in dbSNP:rs4849167</li><li>R->Q at 637: in dbSNP:rs45487591</li><li>I->V at 658: in dbSNP:rs45574835</li>									<li>rs45574835</li><li>rs4849167</li><li>rs1562277</li><li>rs12472091</li><li>rs45487591</li>	2
Q8NDX2	246213		<li>T->I at 8: in dbSNP:rs45610843</li><li>A->V at 211: in DFNA25, MIM: 605583</li><li>A->T at 220: in dbSNP:rs11568530, MIM: 605583</li><li>G->E at 246: in dbSNP:rs11568543, MIM: 605583</li>								Non-syndromic sensorineural deafness autosomal dominant type 25 (DFNA25) [MIM:605583]	<li>rs45610843</li><li>rs11568543</li><li>rs11568530</li>	2
Q8NDX9	58496		<li>D->N at 102: in dbSNP:rs805267</li><li>S->Y at 131: in dbSNP:rs11758242</li><li>R->C at 176: in dbSNP:rs9267532</li>									<li>rs805267</li><li>rs11758242</li><li>rs9267532</li>	2
Q8NDY3	113622		<li>A->V at 7: in dbSNP:rs9577273</li>									rs9577273	2
Q8NDY8	339456		<li>M->T at 141: in dbSNP:rs28640257</li><li>M->V at 141: in dbSNP:rs4459050</li>									<li>rs4459050</li><li>rs28640257</li>	2
Q8NDZ0	139105		<li>F->L at 154: in dbSNP:rs17274127</li><li>S->F at 188: in dbSNP:rs12859329</li>									<li>rs12859329</li><li>rs17274127</li>	2
Q8NDZ2	375484		<li>S->F at 221: in dbSNP:rs2001605</li><li>R->K at 463: in dbSNP:rs17857141</li><li>R->H at 772: in dbSNP:rs17853733</li>									<li>rs17857141</li><li>rs2001605</li><li>rs17853733</li>	2
Q8NE00	54868		<li>V->M at 58: in dbSNP:rs2016126</li><li>A->T at 439: in dbSNP:rs3803784</li>									<li>rs3803784</li><li>rs2016126</li>	2
Q8NE09	26166		<li>R->M at 397: in dbSNP:rs2446927</li><li>H->Y at 943: in dbSNP:rs3133711</li>									<li>rs2446927</li><li>rs3133711</li>	2
Q8NE18			<li>A->S at 308: in dbSNP:rs2437323</li>									rs2437323	2
Q8NE22	133383		<li>T->S at 76: in dbSNP:rs2257505</li><li>K->E at 209: in dbSNP:rs40497</li>									<li>rs40497</li><li>rs2257505</li>	2
Q8NE28	169436		<li>G->D at 139: in a glioblastoma multiforme sample; somatic mutation</li><li>K->E at 473: in dbSNP:rs3124747</li><li>R->Q at 568: in dbSNP:rs17150554</li>									<li>rs3124747</li><li>rs17150554</li>	2
Q8NE31	220965		<li>P->H at 82: in dbSNP:rs17853626</li>									rs17853626	2
Q8NE35	22849		<li>R->W at 324: in dbSNP:rs17853616</li>									rs17853616	2
Q8NE62	55349		<li>E->A at 40: in dbSNP:rs9001</li><li>L->R at 78: in dbSNP:rs12676</li><li>N->S at 441: in dbSNP:rs34974961</li>									<li>rs34974961</li><li>rs9001</li><li>rs12676</li>	2
Q8NE63	147746		<li>A->T at 106: in dbSNP rsrs34434715</li><li>V->M at 171: in dbSNP rsrs55964225</li><li>R->Q at 302: in dbSNP:rs11670988</li><li>T->M at 381: in dbSNP rsrs55760165</li><li>A->T at 386: in dbSNP rsrs56365273</li><li>S->R at 406: in dbSNP rsrs56094851</li><li>G->S at 421: in dbSNP rsrs56117722</li><li>R->C at 481: in dbSNP rsrs55801979</li>									<li>rs56365273</li><li>rs55760165</li><li>rs56094851</li><li>rs55964225</li><li>rs34434715</li><li>rs11670988</li><li>rs55801979</li><li>rs56117722</li>	2
Q8NE71	23		<li>N->D at 198: in dbSNP:rs6902544</li>									rs6902544	2
Q8NE79	11149		<li>M->I at 127: in dbSNP:rs9486039</li><li>R->W at 129: in dbSNP:rs2275289</li>									<li>rs2275289</li><li>rs9486039</li>	2
Q8NEA4	130888		<li>L->F at 86: in dbSNP:rs1035834</li>									rs1035834	2
Q8NEA5	147685		<li>H->Y at 208: in dbSNP:rs8110831</li>									rs8110831	2
Q8NEA6	169792		<li>S->P at 269: in dbSNP:rs806052</li><li>Q->P at 301: in dbSNP:rs6415788</li><li>P->L at 578: in dbSNP:rs10973986</li>									<li>rs10973986</li><li>rs6415788</li><li>rs806052</li>	2
Q8NEA9			<li>V->A at 275: in a colorectal cancer sample; somatic mutation</li>										2
Q8NEB7	84519		<li>T->A at 336: in dbSNP:rs3741923</li>									rs3741923	2
Q8NEC5	117144		<li>G->S at 133: in dbSNP:rs1203998</li><li>I->V at 652: in dbSNP:rs3814747</li><li>T->P at 730: in dbSNP:rs34958219</li>									<li>rs3814747</li><li>rs34958219</li><li>rs1203998</li>	2
Q8NEE6	222235		<li>M->I at 74: in dbSNP:rs7805950</li><li>G->A at 313: in dbSNP:rs17135923</li><li>I->V at 535: in dbSNP:rs17135873</li><li>Y->C at 565: in dbSNP:rs17136118</li><li>D->G at 692: in dbSNP:rs17852944</li>									<li>rs7805950</li><li>rs17136118</li><li>rs17135923</li><li>rs17852944</li><li>rs17135873</li>	2
Q8NEE8	158248		<li>M->T at 405: in dbSNP:rs17852941</li><li>E->G at 588: in dbSNP:rs13298768</li><li>Y->C at 809: in dbSNP:rs4837178</li><li>A->S at 872: in dbSNP:rs17852943</li>									<li>rs13298768</li><li>rs4837178</li><li>rs17852943</li><li>rs17852941</li>	2
Q8NEF3	153733		<li>H->L at 32: in dbSNP:rs34457718</li><li>S->N at 144: in dbSNP:rs34056787</li><li>K->N at 341: in dbSNP:rs17856922</li><li>E->G at 354: in dbSNP:rs17852930</li>									<li>rs34457718</li><li>rs17856922</li><li>rs17852930</li><li>rs34056787</li>	2
Q8NEG0	196472		<li>R->G at 30: in dbSNP:rs11109968</li><li>M->V at 71: in dbSNP:rs11109969</li>									<li>rs11109968</li><li>rs11109969</li>	2
Q8NEG4	113828		<li>R->S at 245: in dbSNP:rs12330063</li><li>G->S at 353: in dbSNP:rs35823589</li><li>A->V at 418: in a breast cancer sample; somatic mutation</li><li>R->G at 436: in dbSNP:rs5995794</li>									<li>rs12330063</li><li>rs35823589</li><li>rs5995794</li>	2
Q8NEH6	55329		<li>C->Y at 10: in dbSNP:rs34807682</li><li>Q->P at 55: in dbSNP:rs1715919</li><li>I->T at 216: in dbSNP:rs35775595</li><li>Y->H at 244: in dbSNP:rs17852882</li><li>E->G at 426: in dbSNP:rs17853357</li>									<li>rs35775595</li><li>rs34807682</li><li>rs1715919</li><li>rs17852882</li><li>rs17853357</li>	2
Q8NEJ9	25983		<li>V->L at 15: in dbSNP:rs10149626</li><li>K->I at 308: in dbSNP:rs17093050</li>									<li>rs10149626</li><li>rs17093050</li>	2
Q8NEK5	147694		<li>S->A at 58: in dbSNP:rs17856896</li><li>T->A at 73: in dbSNP:rs4801478</li>									<li>rs4801478</li><li>rs17856896</li>	2
Q8NEK8	169966		<li>D->E at 185: in dbSNP:rs1113265</li>									rs1113265	2
Q8NEL0	84692		<li>R->Q at 38: in dbSNP:rs709564</li>									rs709564	2
Q8NEM0	79648		<li>T->R at 27: in MCPH1; mild phenotype, MIM: 251200</li><li>S->R at 171: in dbSNP:rs2442513, MIM: 251200</li><li>A->T at 212: in dbSNP:rs2922828, MIM: 251200</li><li>I->V at 264: in dbSNP:rs34121009, MIM: 251200</li><li>P->H at 288: in dbSNP:rs35590577, MIM: 251200</li><li>R->I at 304: in dbSNP:rs2083914, MIM: 251200</li><li>H->D at 314: in dbSNP:rs930557, MIM: 251200</li><li>G->D at 392: in dbSNP:rs2515569, MIM: 251200</li><li>S->G at 580: in dbSNP:rs17076894, MIM: 251200</li><li>L->F at 602: in dbSNP:rs34418490, MIM: 251200</li><li>T->N at 682: in dbSNP:rs12674488, MIM: 251200</li><li>V->A at 761: may be associated with cranial volume variation in males in a Chinese population; dbSNP:rs1057090, MIM: 251200</li><li>P->S at 828: in dbSNP:rs1057091, MIM: 251200</li>							<li>Q5IFK1</li><li>Q8NEM0</li><li>P61594</li><li>P61593</li><li>P61590</li><li>P61592</li><li>P61591</li>	Microcephaly primary type 1 (MCPH1) [MIM:251200]	<li>rs2515569</li><li>rs2442513</li><li>rs2922828</li><li>rs12674488</li><li>rs34418490</li><li>rs35590577</li><li>rs2083914</li><li>rs930557</li><li>rs34121009</li><li>rs1057090</li><li>rs1057091</li><li>rs17076894</li>	2
Q8NEM1	340252		<li>S->F at 132: in dbSNP:rs11768951</li><li>D->G at 330: in dbSNP:rs17856885</li><li>N->D at 525: in dbSNP:rs17852813</li>									<li>rs17852813</li><li>rs11768951</li><li>rs17856885</li>	2
Q8NEM2	79801		<li>T->M at 21: in dbSNP:rs6598679</li><li>M->R at 60: in dbSNP:rs11545690</li>									<li>rs6598679</li><li>rs11545690</li>	2
Q8NEM8	340351		<li>F->Y at 45: in dbSNP:rs2348049</li><li>E->Q at 122: in dbSNP:rs4236655</li><li>T->I at 360: in dbSNP:rs17804854</li>									<li>rs17804854</li><li>rs2348049</li><li>rs4236655</li>	2
Q8NEN0	84071		<li>M->T at 166: in dbSNP:rs9386758</li><li>N->D at 433: in dbSNP:rs17852775</li>									<li>rs17852775</li><li>rs9386758</li>	2
Q8NEN9	118987		<li>V->A at 806: in dbSNP:rs35664484</li><li>R->Q at 897: in dbSNP:rs363294</li>									<li>rs35664484</li><li>rs363294</li>	2
Q8NEP3	123872		<li>D->E at 387: in dbSNP:rs36062234</li><li>K->R at 393: in dbSNP:rs17856705</li><li>E->D at 432: in dbSNP:rs9972733</li><li>P->L at 502: in dbSNP:rs11644164</li><li>F->C at 545: in dbSNP:rs17856706</li><li>L->S at 633: in dbSNP:rs2288020</li><li>L->P at 659: in dbSNP:rs2288022</li><li>L->V at 659: in dbSNP:rs2288021</li><li>S->T at 675: in dbSNP:rs2288023</li><li>G->R at 703: in dbSNP:rs4150188</li><li>P->A at 712: in dbSNP:rs4150187</li>									<li>rs4150187</li><li>rs17856706</li><li>rs17856705</li><li>rs2288020</li><li>rs2288022</li><li>rs2288021</li><li>rs2288023</li><li>rs11644164</li><li>rs9972733</li><li>rs36062234</li><li>rs4150188</li>	2
Q8NEP4	284083		<li>T->P at 88: in dbSNP:rs8071623</li><li>G->S at 461: in dbSNP:rs17822735</li><li>C->G at 546: in dbSNP:rs16943091</li>									<li>rs17822735</li><li>rs8071623</li><li>rs16943091</li>	2
Q8NEP7	126823		<li>S->R at 171: in dbSNP:rs11576830</li><li>A->T at 282: in dbSNP:rs1128750</li><li>N->S at 288: in dbSNP:rs1128750</li>									<li>rs1128750</li><li>rs11576830</li>	2
Q8NEP9	148254		<li>N->D at 107: in dbSNP:rs17856649</li><li>P->L at 137: in dbSNP:rs36012545</li><li>H->N at 194: in dbSNP:rs17851955</li><li>K->T at 515: in dbSNP:rs17856648</li>									<li>rs17856649</li><li>rs17856648</li><li>rs17851955</li><li>rs36012545</li>	2
Q8NEQ5	128346		<li>G->S at 3: in dbSNP:rs6703267</li>									rs6703267	2
Q8NEQ6	149563		<li>G->W at 52: in a breast cancer sample; somatic mutation</li><li>G->W at 100: in a breast cancer sample; somatic mutation</li><li>L->F at 112: in dbSNP:rs34950166</li>									rs34950166	2
Q8NES3	3955		<li>G->R at 38</li><li>F->L at 188: in SCDO3; not localized to the correct compartment of the cell; unable to modulate Notch signaling in a cell-based assay; enzymatically inactive, MIM: 609813</li><li>V->M at 346, MIM: 609813</li>								Spondylocostal dysostosis autosomal recessive type 3 (SCDO3) [MIM:609813]		2
Q8NET1	245911		<li>R->W at 36: in dbSNP:rs12793731</li>									rs12793731	2
Q8NET4	57529		<li>P->S at 777: in dbSNP:rs35495390</li>									rs35495390	2
Q8NET6	166012		<li>P->S at 146: in dbSNP:rs34311016</li><li>A->E at 271: in dbSNP:rs1056523</li><li>A->G at 271: in dbSNP:rs1056523</li><li>A->V at 271: in dbSNP:rs1056523</li><li>R->Q at 317: in dbSNP:rs1056522</li>									<li>rs34311016</li><li>rs1056523</li><li>rs1056522</li>	2
Q8NET8	162514		<li>I->V at 25: in dbSNP:rs322965</li><li>R->G at 117: in dbSNP:rs322937</li><li>T->I at 774: in dbSNP:rs7212634</li>									<li>rs322937</li><li>rs322965</li><li>rs7212634</li>	2
Q8NEU8	55198		<li>A->V at 433: in dbSNP:rs2272495</li>									rs2272495	2
Q8NEV4	53904		<li>T->I at 178: in dbSNP:rs33968748</li><li>D->N at 204: in dbSNP:rs3737274</li><li>R->H at 319: in dbSNP:rs3824700</li><li>I->V at 348: in dbSNP:rs3824699</li><li>V->I at 369: in dbSNP:rs3817420</li><li>N->K at 525: in an ovarian mucinous carcinoma sample; somatic mutation</li><li>A->S at 833: in dbSNP:rs33947968</li><li>S->N at 956: in dbSNP:rs3758449</li><li>S->R at 956: in an ovarian serous carcinoma sample; somatic mutation</li><li>A->T at 1032: in dbSNP:rs34918608</li><li>V->M at 1045: in dbSNP rsrs35447806</li><li>V->M at 1137: in dbSNP rsrs35449183</li><li>V->A at 1195: in dbSNP rsrs35675577</li><li>T->S at 1284: in dbSNP:rs3740231</li><li>P->T at 1287: in dbSNP:rs35575696</li><li>R->S at 1313: in dbSNP:rs1999240</li><li>D->H at 1347: in a renal clear cell carcinoma sample; somatic mutation</li><li>T->I at 1417: in dbSNP:rs34151474</li><li>K->E at 1488: in dbSNP rsrs34204285</li>									<li>rs33947968</li><li>rs3737274</li><li>rs3758449</li><li>rs3824699</li><li>rs34204285</li><li>rs3817420</li><li>rs35675577</li><li>rs3740231</li><li>rs3824700</li><li>rs35447806</li><li>rs33968748</li><li>rs35575696</li><li>rs34151474</li><li>rs34918608</li><li>rs35449183</li><li>rs1999240</li>	2
Q8NEV8	23086		<li>R->G at 19: in dbSNP:rs2640738</li><li>R->L at 118: in dbSNP:rs3741046</li><li>E->V at 137: in dbSNP:rs2640785</li><li>R->Q at 328: in dbSNP:rs11212684</li><li>M->L at 512: in dbSNP:rs17108127</li><li>V->F at 525: in dbSNP:rs12146448</li><li>N->S at 676: in dbSNP:rs2846412</li><li>D->N at 777: in dbSNP:rs3741048</li><li>L->P at 853: in dbSNP:rs10749920</li><li>N->Y at 892: in dbSNP:rs10890850</li><li>V->A at 899: in dbSNP:rs17108112</li><li>D->N at 1240: in dbSNP:rs11828459</li><li>C->R at 1311: in dbSNP:rs877474</li><li>R->G at 1663: in dbSNP:rs2640779</li><li>D->N at 1967: in dbSNP:rs1943382</li>									<li>rs12146448</li><li>rs17108127</li><li>rs11828459</li><li>rs10890850</li><li>rs17108112</li><li>rs877474</li><li>rs11212684</li><li>rs3741046</li><li>rs2640785</li><li>rs3741048</li><li>rs2846412</li><li>rs1943382</li><li>rs2640779</li><li>rs10749920</li><li>rs2640738</li>	2
Q8NEV9	246778		<li>S->A at 59: in dbSNP:rs17855750</li><li>L->P at 119: in dbSNP:rs181206</li>									<li>rs181206</li><li>rs17855750</li>	2
Q8NEW7	259236		<li>R->C at 81: in DFNB6: in dbSNP rsrs28942096, MIM: 600971</li><li>R->W at 84: in DFNB6: in dbSNP rsrs28942097, MIM: 600971</li><li>R->W at 92: in DFNB6: in dbSNP rsrs28941781, MIM: 600971</li>								Non-syndromic sensorineural deafness autosomal recessive type 6 (DFNB6) [MIM:600971]	<li>rs28942097</li><li>rs28942096</li><li>rs28941781</li>	2
Q8NEX5	259240		<li>N->T at 27: in dbSNP:rs2245898</li>									rs2245898	2
Q8NEY1	89796		<li>Q->H at 937: in dbSNP:rs16849342</li><li>S->L at 1273: in dbSNP:rs2820289</li><li>H->D at 1290: in dbSNP:rs2292822</li><li>V->I at 1527: in dbSNP:rs16849379</li>									<li>rs16849379</li><li>rs2292822</li><li>rs2820289</li><li>rs16849342</li>	2
Q8NEY3	132851		<li>Y->C at 149: in dbSNP:rs17062589</li>									rs17062589	2
Q8NEY4	245973		<li>N->D at 143: in dbSNP:rs1198849</li>									rs1198849	2
Q8NEY8	51535		<li>V->M at 173: in a breast cancer sample; somatic mutation</li>										2
Q8NEZ2	137492		<li>I->F at 206: in dbSNP:rs17502618</li><li>I->V at 213: in dbSNP:rs17687375</li>									<li>rs17502618</li><li>rs17687375</li>	2
Q8NEZ3	57728		<li>G->S at 1084: in dbSNP:rs16995209</li>									rs16995209	2
Q8NEZ4	58508		<li>C->G at 347: in a colorectal cancer sample; somatic mutation</li><li>D->N at 400: in a colorectal cancer sample; somatic mutation</li><li>L->W at 478: in a colorectal cancer sample; somatic mutation</li><li>I->N at 823: in dbSNP:rs2838171</li><li>I->T at 823: in dbSNP:rs2838171</li><li>T->S at 3698: in a colorectal cancer sample; somatic mutation</li>									rs2838171	2
Q8NF50	81704		<li>P->T at 97: in dbSNP:rs529208</li><li>E->K at 237: in dbSNP:rs11789099</li><li>N->S at 413: in dbSNP:rs10970979</li><li>A->V at 597: in dbSNP:rs17673268</li><li>R->W at 1008: in dbSNP:rs16937932</li><li>A->P at 1970: in dbSNP:rs34908836</li>									<li>rs16937932</li><li>rs34908836</li><li>rs17673268</li><li>rs11789099</li><li>rs10970979</li><li>rs529208</li>	2
Q8NF64	83637		<li>L->F at 408: in dbSNP:rs3735478</li>									rs3735478	2
Q8NFA0	84669		<li>H->Y at 76: in dbSNP:rs7208980</li><li>A->G at 1469: in dbSNP:rs3207630</li><li>G->R at 1568: in dbSNP:rs16944142</li><li>T->I at 1578: in dbSNP:rs16944136</li>									<li>rs7208980</li><li>rs16944142</li><li>rs16944136</li><li>rs3207630</li>	2
Q8NFB2	84548		<li>M->V at 179: in dbSNP:rs396058</li><li>C->S at 243: in dbSNP:rs609828</li>									<li>rs609828</li><li>rs396058</li>	2
Q8NFC6	259282		<li>S->I at 246: in a breast cancer sample; somatic mutation</li><li>T->M at 429: in dbSNP:rs2035820</li><li>L->I at 650: in dbSNP:rs1971278</li><li>A->G at 1369: in dbSNP:rs17745712</li><li>T->A at 1448: in dbSNP:rs17745676</li><li>T->A at 1515: in dbSNP:rs16888885</li><li>V->I at 1645: in dbSNP:rs17807493</li><li>G->S at 2361: in dbSNP:rs3822227</li><li>P->L at 2396: in dbSNP:rs3733557</li>									<li>rs17745712</li><li>rs3822227</li><li>rs3733557</li><li>rs1971278</li><li>rs2035820</li><li>rs17745676</li><li>rs16888885</li><li>rs17807493</li>	2
Q8NFD2	255239		<li>D->Y at 4: in dbSNP:rs35657708</li><li>R->H at 122: in dbSNP:rs35877321</li><li>A->T at 239: in dbSNP:rs7118900</li><li>P->L at 276: in dbSNP:rs35488601</li><li>G->R at 318: in dbSNP:rs11604671</li><li>K->T at 347: in a breast infiltrating ductal carcinoma sample; somatic mutation</li><li>L->F at 366: in dbSNP:rs56339158</li><li>H->Q at 367: in dbSNP:rs34298987</li><li>E->K at 376: in dbSNP:rs56299709</li><li>E->K at 426: in dbSNP:rs55699907</li><li>G->R at 442: in dbSNP:rs4938016</li><li>G->R at 451: in dbSNP:rs34983219</li><li>H->R at 490: in dbSNP:rs2734849</li><li>T->I at 595: in dbSNP:rs55787008</li><li>P->L at 596: in dbSNP:rs7104979</li><li>N->S at 653: in dbSNP:rs55849504</li><li>S->G at 670: in dbSNP:rs56006094</li><li>E->K at 713: in dbSNP:rs1800497</li><li>Q->L at 717: in a lung large cell carcinoma sample; somatic mutation</li><li>R->L at 736: in a lung squamous cell carcinoma sample; somatic mutation</li><li>E->K at 764: in a lung neuroendocrine carcinoma sample; somatic mutation</li>									<li>rs4938016</li><li>rs35877321</li><li>rs56006094</li><li>rs7118900</li><li>rs2734849</li><li>rs11604671</li><li>rs56339158</li><li>rs34298987</li><li>rs35657708</li><li>rs34983219</li><li>rs1800497</li><li>rs7104979</li><li>rs55699907</li><li>rs35488601</li><li>rs55787008</li><li>rs55849504</li><li>rs56299709</li>	2
Q8NFD5	57492		<li>G->A at 814: in a breast cancer sample; somatic mutation</li>										2
Q8NFF2	123041		<li>V->I at 596: in dbSNP:rs4900130</li>									rs4900130	2
Q8NFG4	201163		<li>S->W at 79: in a sporadic colorectal carcinoma; somatic mutation</li><li>A->V at 238: in a renal cell carcinoma cell line</li><li>R->Q at 320: in a primary colorectal cancer</li><li>R->G at 392: in a primary colorectal cancer; somatic mutation</li><li>A->S at 444: in a primary clear-cell renal cell carcinoma; somatic mutation</li><li>A->T at 445: in a sporadic colorectal carcinoma; somatic mutation: in dbSNP rsrs41419545</li>									rs41419545	2
Q8NFJ5	9052		<li>C->F at 9: in dbSNP:rs11550683</li><li>S->G at 118: in dbSNP:rs850932</li><li>T->A at 182: in dbSNP:rs12368599</li>									<li>rs850932</li><li>rs12368599</li><li>rs11550683</li>	2
Q8NFJ6	128674		<li>R->C at 85</li><li>R->H at 85: in KAL3, MIM: 244200</li><li>R->Q at 164: in KAL3, MIM: 244200</li><li>L->R at 173: in KAL3, MIM: 244200</li><li>W->S at 178: in KAL3, MIM: 244200</li><li>Q->R at 210: in KAL3, MIM: 244200</li><li>R->C at 268, MIM: 244200</li><li>P->S at 290: in KAL3, MIM: 244200</li><li>M->I at 323: in KAL3, MIM: 244200</li><li>V->M at 331, MIM: 244200</li><li>T->M at 335, MIM: 244200</li>								Kallmann syndrome type 3 (KAL3) [MIM:244200]		2
Q8NFJ9	582		<li>H->R at 35: in BBS1, MIM: 209900</li><li>K->E at 53: in BBS1, MIM: 209900</li><li>D->N at 148: in BBS1, MIM: 209900</li><li>R->Q at 160: in BBS1, MIM: 209900</li><li>Missing  at 200-201: in BBS1, MIM: 209900</li><li>E->K at 234: in BBS1; dbSNP:rs35520756, MIM: 209900</li><li>G->S at 305: in BBS1, MIM: 209900</li><li>Missing  at 389: in BBS1, MIM: 209900</li><li>M->R at 390: in BBS1, MIM: 209900</li><li>Y->S at 434: in BBS1, MIM: 209900</li><li>L->H at 503: in BBS1, MIM: 209900</li><li>L->P at 518: in BBS1, MIM: 209900</li><li>L->Q at 518: in BBS1, MIM: 209900</li>							Q8NFJ9	Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]	rs35520756	2
Q8NFL0	93010		<li>V->I at 233: in dbSNP:rs2290130</li>									rs2290130	2
Q8NFM7	54756		<li>T->M at 255: in dbSNP:rs6780995</li><li>V->M at 301: in dbSNP:rs17057718</li>									<li>rs17057718</li><li>rs6780995</li>	2
Q8NFN8	165829		<li>D->E at 516: in dbSNP:rs902790</li>									rs902790	2
Q8NFP4	266727		<li>L->P at 61: in dbSNP:rs10947690</li>									rs10947690	2
Q8NFP9	26960		<li>A->P at 569: in dbSNP:rs5011295</li><li>I->V at 2501: in dbSNP:rs11538677</li>									<li>rs5011295</li><li>rs11538677</li>	2
Q8NFQ5	128859		<li>T->M at 16: in dbSNP:rs17301126</li><li>V->I at 97: in dbSNP:rs2070317</li><li>P->T at 149: in dbSNP:rs11907355</li><li>S->G at 347: in dbSNP:rs4911287</li>									<li>rs2070317</li><li>rs4911287</li><li>rs11907355</li><li>rs17301126</li>	2
Q8NFQ6	254240		<li>V->A at 269: in dbSNP:rs2076051</li><li>V->L at 302: in dbSNP:rs5994570</li><li>S->P at 451: in dbSNP:rs5998478</li><li>E->A at 479: in dbSNP:rs35856742</li>									<li>rs35856742</li><li>rs5994570</li><li>rs5998478</li><li>rs2076051</li>	2
Q8NFR7	130940		<li>Q->R at 75: in dbSNP:rs4664950</li><li>M->V at 157: in dbSNP:rs12620556</li><li>R->K at 329: in dbSNP:rs7559772</li>									<li>rs4664950</li><li>rs7559772</li><li>rs12620556</li>	2
Q8NFR9	132014		<li>Y->C at 219: in dbSNP:rs7356031</li><li>P->S at 402: in dbSNP:rs9870003</li><li>S->T at 417: in dbSNP:rs7647642</li>									<li>rs9870003</li><li>rs7647642</li><li>rs7356031</li>	2
Q8NFT8	92737		<li>P->L at 433: in dbSNP:rs17853365</li>									rs17853365	2
Q8NFU0	266675		<li>Y->C at 62: in dbSNP:rs16832245</li><li>Y->S at 217: in dbSNP:rs16832242</li><li>Q->E at 331: in dbSNP:rs16832241</li><li>R->L at 402: in dbSNP:rs16832239</li>									<li>rs16832245</li><li>rs16832239</li><li>rs16832241</li><li>rs16832242</li>	2
Q8NFU7	80312		<li>D->G at 162: in dbSNP:rs10823229</li><li>S->T at 193: in dbSNP:rs12773594</li><li>A->V at 256: in dbSNP:rs12221107</li><li>N->S at 1018: in dbSNP:rs16925541</li><li>I->M at 1123: in dbSNP:rs3998860</li>									<li>rs12221107</li><li>rs12773594</li><li>rs3998860</li><li>rs10823229</li><li>rs16925541</li>	2
Q8NFW1	169044		<li>G->S at 320: in dbSNP:rs2292927</li><li>P->T at 703: in dbSNP:rs10111520</li><li>A->D at 938: in dbSNP:rs4909444</li>									<li>rs4909444</li><li>rs10111520</li><li>rs2292927</li>	2
Q8NFW5	127343		<li>A->P at 205: in dbSNP:rs34614765</li>									rs34614765	2
Q8NFW9	25924		<li>P->S at 673: in dbSNP:rs34800524</li>									rs34800524	2
Q8NFY4	80031		<li>N->S at 307: in dbSNP:rs3743279</li><li>S->N at 478: in dbSNP:rs532598</li><li>S->T at 969: in dbSNP:rs16960074</li>									<li>rs16960074</li><li>rs532598</li><li>rs3743279</li>	2
Q8NFY9	84541		<li>S->C at 198: in a breast cancer sample; somatic mutation</li><li>R->K at 405: in a breast cancer sample; somatic mutation</li><li>C->R at 420: in dbSNP:rs13096789</li>									rs13096789	2
Q8NFZ5	79155		<li>A->V at 396: in dbSNP:rs2269495</li>									rs2269495	2
Q8NFZ6	317701		<li>C->R at 38: in dbSNP:rs2965249</li>									rs2965249	2
Q8NFZ8	199731		<li>T->A at 225: in dbSNP:rs34246023</li>									rs34246023	2
Q8NG04	65012		<li>M->T at 130: in dbSNP:rs971209</li><li>A->T at 193: in dbSNP:rs923828</li><li>L->S at 270: in a colorectal cancer sample; somatic mutation</li><li>L->V at 546: in dbSNP:rs774895</li>									<li>rs923828</li><li>rs774895</li><li>rs971209</li>	2
Q8NG06	25893		<li>W->S at 3: in dbSNP:rs11204523</li><li>V->I at 322: in dbSNP:rs1339847</li><li>T->M at 374: in dbSNP:rs3811444</li>									<li>rs1339847</li><li>rs3811444</li><li>rs11204523</li>	2
Q8NG27	64219		<li>S->N at 432: in dbSNP:rs5937160</li><li>E->D at 606: in dbSNP:rs11539157</li>									<li>rs5937160</li><li>rs11539157</li>	2
Q8NG31	57082		<li>R->T at 43: in dbSNP:rs7177192</li><li>T->A at 70: in dbSNP:rs16970874</li><li>T->A at 113: in dbSNP:rs12911738</li><li>A->S at 486: in dbSNP:rs2412541</li><li>M->T at 598: in dbSNP rsrs11858113</li><li>R->G at 936: in dbSNP:rs8040502</li><li>K->E at 1285: in dbSNP:rs17747633</li><li>T->A at 1473: in dbSNP:rs16970911</li>									<li>rs17747633</li><li>rs11858113</li><li>rs16970874</li><li>rs8040502</li><li>rs7177192</li><li>rs12911738</li><li>rs2412541</li><li>rs16970911</li>	2
Q8NG48	55180		<li>I->V at 29: in dbSNP:rs11247226</li><li>A->V at 331: in dbSNP:rs34967129</li><li>M->V at 406: in dbSNP:rs12719734</li><li>S->T at 472: in dbSNP:rs2411837</li><li>I->V at 541: in dbSNP:rs12915007</li><li>E->D at 641: in dbSNP:rs12157</li><li>R->S at 680: in dbSNP:rs8451</li>									<li>rs34967129</li><li>rs12157</li><li>rs12915007</li><li>rs2411837</li><li>rs8451</li><li>rs12719734</li><li>rs11247226</li>	2
Q8NG75	390155		<li>P->L at 60: in dbSNP:rs7126079</li><li>S->G at 164: in dbSNP:rs12360890</li>									<li>rs12360890</li><li>rs7126079</li>	2
Q8NG76	391195		<li>A->V at 169: in dbSNP:rs10888338</li>									rs10888338	2
Q8NG77	127064		<li>K->N at 296: in dbSNP:rs11204625</li>									rs11204625	2
Q8NG81	391196		<li>V->A at 78: in dbSNP:rs7555310</li><li>C->F at 178: in dbSNP:rs4916130</li>									<li>rs4916130</li><li>rs7555310</li>	2
Q8NG85	391192		<li>S->L at 104: in dbSNP:rs6658256</li>									rs6658256	2
Q8NG92	347468		<li>Y->S at 266: in dbSNP:rs655415</li>									rs655415	2
Q8NG95	390883		<li>M->V at 29: in dbSNP:rs10414255</li>									rs10414255	2
Q8NG98	125958		<li>D->G at 52</li><li>S->C at 75: in dbSNP:rs5020281</li><li>P->L at 79: impaired response to androstenone and androstadienone</li><li>S->N at 84: high sensitivity to androstenone and androstadienone; dbSNP:rs5020280</li><li>R->W at 88: impaired response to androstenone and androstadienone; when associated with M-133</li><li>H->Q at 131: in dbSNP:rs5020279</li><li>T->M at 133: impaired response to androstenone and androstadienone; when associated with W-88; dbSNP:rs5020278</li><li>M->I at 136: in dbSNP:rs5020277</li><li>C->R at 139: in dbSNP:rs5020276</li><li>C->Y at 139: in dbSNP:rs5020275</li><li>L->P at 162</li><li>A->D at 279</li><li>L->M at 292: in dbSNP:rs4564704</li>									<li>rs5020277</li><li>rs5020278</li><li>rs5020279</li><li>rs4564704</li><li>rs5020281</li><li>rs5020280</li><li>rs5020275</li><li>rs5020276</li>	2
Q8NG99			<li>F->V at 281: in dbSNP:rs4804401</li>									rs4804401	2
Q8NGA0			<li>V->A at 83: in dbSNP:rs6511874</li><li>W->C at 141: in dbSNP:rs2217657</li><li>A->V at 156: in dbSNP:rs7246980</li><li>S->F at 167: in dbSNP:rs7246969</li><li>Y->C at 252: in dbSNP:rs2195951</li>									<li>rs6511874</li><li>rs7246980</li><li>rs2195951</li><li>rs2217657</li><li>rs7246969</li>	2
Q8NGA5	126541		<li>N->K at 100: in dbSNP:rs16980994</li><li>H->R at 144: in dbSNP:rs16980822</li>									<li>rs16980994</li><li>rs16980822</li>	2
Q8NGB6	390538		<li>G->E at 96: in dbSNP:rs1835183</li><li>D->N at 121: in dbSNP:rs11857531</li><li>L->F at 225: in dbSNP:rs491208</li><li>M->V at 239: in dbSNP:rs12593418</li><li>R->H at 284: in dbSNP:rs4087943</li>									<li>rs4087943</li><li>rs491208</li><li>rs11857531</li><li>rs12593418</li><li>rs1835183</li>	2
Q8NGC0	390445		<li>V->M at 80: in dbSNP:rs17102042</li><li>L->F at 117: in dbSNP:rs4982419</li><li>I->V at 299: in dbSNP:rs7145814</li>									<li>rs17102042</li><li>rs7145814</li><li>rs4982419</li>	2
Q8NGC1	390439		<li>I->N at 99: in dbSNP:rs4981822</li><li>V->I at 116: in dbSNP:rs4981088</li>									<li>rs4981088</li><li>rs4981822</li>	2
Q8NGC2	26686		<li>V->M at 118: in dbSNP:rs2874103</li><li>Q->R at 234: in dbSNP:rs970382</li>									<li>rs970382</li><li>rs2874103</li>	2
Q8NGC3	26534		<li>L->F at 67: in dbSNP:rs10146821</li><li>R->L at 85: in dbSNP:rs41314525</li><li>R->P at 187: in dbSNP:rs35963889</li><li>R->G at 209: in dbSNP:rs12894405</li>									<li>rs12894405</li><li>rs35963889</li><li>rs41314525</li><li>rs10146821</li>	2
Q8NGC4	26533		<li>S->G at 73: in dbSNP:rs17792778</li>									rs17792778	2
Q8NGC7	122748		<li>S->Y at 7: in dbSNP:rs10140652</li><li>L->V at 32: in dbSNP:rs9323693</li><li>I->T at 107: in dbSNP:rs12891553</li><li>R->H at 146: in dbSNP:rs17106351</li><li>L->F at 195: in dbSNP:rs17211285</li><li>Y->H at 236: in dbSNP:rs17277221</li><li>C->R at 259: in dbSNP:rs17277228</li>									<li>rs9323693</li><li>rs17277228</li><li>rs17106351</li><li>rs10140652</li><li>rs12891553</li><li>rs17277221</li><li>rs17211285</li>	2
Q8NGC9	390442		<li>T->S at 301: in dbSNP:rs17277270</li>									rs17277270	2
Q8NGD0	441670		<li>T->I at 116: in dbSNP:rs2635535</li><li>G->D at 232: in dbSNP:rs2815960</li>									<li>rs2635535</li><li>rs2815960</li>	2
Q8NGD1	390429		<li>I->T at 76: in dbSNP:rs2801164</li><li>P->S at 133: in dbSNP:rs2318279</li><li>V->L at 135: in dbSNP:rs17114261</li>									<li>rs17114261</li><li>rs2801164</li><li>rs2318279</li>	2
Q8NGD2	390431		<li>N->I at 307: in dbSNP:rs12883767</li>									rs12883767	2
Q8NGD3	79317		<li>R->K at 319: in dbSNP:rs17242341</li>									rs17242341	2
Q8NGD4			<li>R->H at 89: in dbSNP:rs12885778</li><li>R->Q at 138: in dbSNP:rs3916626</li><li>R->H at 304: in dbSNP:rs2792146</li>									<li>rs3916626</li><li>rs2792146</li><li>rs12885778</li>	2
Q8NGD5	122740		<li>M->V at 119: in dbSNP:rs7157076</li><li>L->R at 145: in dbSNP:rs17308108</li>									<li>rs17308108</li><li>rs7157076</li>	2
Q8NGE0	121275		<li>V->A at 8: in dbSNP:rs17122812</li><li>R->Q at 166: in dbSNP:rs17224674</li><li>F->V at 275: in dbSNP:rs11830378</li><li>Y->H at 279: in dbSNP:rs11168459</li>									<li>rs11168459</li><li>rs17224674</li><li>rs17122812</li><li>rs11830378</li>	2
Q8NGE1	341418		<li>I->V at 37: in dbSNP:rs7313899</li><li>M->T at 83: in dbSNP:rs11835716</li>									<li>rs11835716</li><li>rs7313899</li>	2
Q8NGE3	121130		<li>P->L at 88: in dbSNP:rs10876838</li><li>V->M at 200: in dbSNP:rs7970885</li>									<li>rs7970885</li><li>rs10876838</li>	2
Q8NGE5	121364		<li>G->S at 96: in dbSNP:rs12578318</li>									rs12578318	2
Q8NGE7	441639		<li>R->C at 45: in dbSNP:rs12303066</li><li>E->A at 103: in dbSNP:rs7305779</li><li>R->H at 207: in dbSNP:rs7306491</li>									<li>rs7305779</li><li>rs12303066</li><li>rs7306491</li>	2
Q8NGE8	390199		<li>Q->R at 159: in dbSNP:rs17501584</li>									rs17501584	2
Q8NGF0	340980		<li>T->A at 57: in dbSNP:rs1077126</li><li>L->H at 111: in dbSNP:rs2341432</li><li>A->T at 167: in dbSNP:rs2341433</li><li>H->R at 170: in dbSNP:rs2341434</li><li>V->I at 288: in dbSNP:rs10769086</li>									<li>rs10769086</li><li>rs2341432</li><li>rs2341433</li><li>rs2341434</li><li>rs1077126</li>	2
Q8NGF3	390038		<li>I->V at 89: in dbSNP:rs905871</li>									rs905871	2
Q8NGF4	338675		<li>A->T at 105: in dbSNP:rs11606499</li>									rs11606499	2
Q8NGF7	219965		<li>L->I at 80: in dbSNP:rs4939208</li><li>Y->C at 308: in dbSNP:rs4127353</li>									<li>rs4127353</li><li>rs4939208</li>	2
Q8NGF8	119765		<li>C->Y at 63: in dbSNP:rs11606506</li><li>T->N at 237: in dbSNP:rs12292056</li>									<li>rs12292056</li><li>rs11606506</li>	2
Q8NGG0	81168		<li>N->T at 57: in dbSNP:rs1947924</li><li>V->I at 87: in dbSNP:rs7937461</li><li>V->F at 208: in dbSNP:rs1384094</li><li>D->E at 271: in dbSNP:rs17150102</li>									<li>rs7937461</li><li>rs1947924</li><li>rs1384094</li><li>rs17150102</li>	2
Q8NGG3	390154		<li>W->G at 84: in dbSNP:rs17150243</li>									rs17150243	2
Q8NGG4	219469		<li>G->S at 2: in dbSNP:rs11600896</li><li>E->V at 22: in dbSNP:rs17540861</li>									<li>rs11600896</li><li>rs17540861</li>	2
Q8NGG5	390157		<li>M->V at 21: in dbSNP:rs10896271</li><li>P->T at 27: in dbSNP:rs10896272</li><li>A->T at 84: in dbSNP:rs17614327</li>									<li>rs17614327</li><li>rs10896272</li><li>rs10896271</li>	2
Q8NGG7	390275		<li>S->L at 218: in dbSNP:rs12792184</li>									rs12792184	2
Q8NGG8			<li>R->H at 20: in dbSNP:rs507335</li><li>M->I at 114: in dbSNP:rs530992</li>									<li>rs507335</li><li>rs530992</li>	2
Q8NGH9	390081		<li>F->L at 49: in dbSNP:rs16914094</li><li>V->I at 176: in dbSNP:rs4758168</li><li>R->M at 184: in dbSNP:rs4757986</li><li>R->H at 228: in dbSNP:rs4757987</li><li>F->L at 257: in dbSNP:rs11823842</li>									<li>rs4757986</li><li>rs4757987</li><li>rs16914094</li><li>rs4758168</li><li>rs11823842</li>	2
Q8NGI0	390077		<li>S->A at 249: in dbSNP:rs8181529</li><li>H->R at 264: in dbSNP:rs8181512</li>									<li>rs8181512</li><li>rs8181529</li>	2
Q8NGI2	390072		<li>I->T at 106: in dbSNP:rs7936512</li><li>R->L at 167: in dbSNP:rs7394584</li><li>G->W at 209: in dbSNP:rs12363178</li><li>I->N at 218: in dbSNP:rs7396938</li>									<li>rs7394584</li><li>rs7396938</li><li>rs12363178</li><li>rs7936512</li>	2
Q8NGI4	219986		<li>F->L at 197: in dbSNP:rs7120079</li>									rs7120079	2
Q8NGI7	390201		<li>V->A at 117: in dbSNP:rs472177</li><li>Q->R at 123: in dbSNP:rs499033</li>									<li>rs499033</li><li>rs472177</li>	2
Q8NGI8	390195		<li>L->F at 289: in dbSNP:rs7941190</li>									rs7941190	2
Q8NGI9	219981		<li>F->L at 103: in dbSNP:rs17153691</li><li>P->L at 172: in dbSNP:rs1453547</li>									<li>rs17153691</li><li>rs1453547</li>	2
Q8NGJ0	219982		<li>I->V at 52: in dbSNP:rs17153732</li><li>D->N at 183: in dbSNP:rs6591536</li>									<li>rs17153732</li><li>rs6591536</li>	2
Q8NGJ1	219983		<li>E->Q at 11: in dbSNP:rs17153766</li><li>M->V at 59: in dbSNP:rs1453544</li><li>D->G at 96: in dbSNP:rs1453543</li><li>F->S at 102: in dbSNP:rs17153770</li><li>D->A at 111: in dbSNP:rs17500380</li><li>S->T at 151: in dbSNP:rs1453542</li><li>M->T at 263: in dbSNP:rs1453541</li>									<li>rs17500380</li><li>rs17153770</li><li>rs17153766</li><li>rs1453544</li><li>rs1453543</li><li>rs1453542</li><li>rs1453541</li>	2
Q8NGJ4	119678		<li>N->S at 5: in dbSNP:rs16909440</li><li>R->W at 167: in dbSNP:rs11035396</li><li>C->R at 264: in dbSNP:rs2500052</li>									<li>rs2500052</li><li>rs11035396</li><li>rs16909440</li>	2
Q8NGJ5	119682		<li>T->I at 196: in dbSNP:rs10768448</li><li>A->V at 207: in dbSNP:rs10768450</li>									<li>rs10768450</li><li>rs10768448</li>	2
Q8NGJ6	401666		<li>D->N at 72: in dbSNP:rs2412467</li><li>R->G at 267: in dbSNP:rs2595988</li><li>T->M at 288: in dbSNP:rs2442426</li>									<li>rs2595988</li><li>rs2442426</li><li>rs2412467</li>	2
Q8NGJ7	401667		<li>G->E at 59: in dbSNP:rs1817206</li><li>M->T at 288: in dbSNP:rs2442426</li><li>K->N at 289: in dbSNP:rs2570573</li>									<li>rs2442426</li><li>rs2570573</li><li>rs1817206</li>	2
Q8NGJ8	119692		<li>I->N at 57: in dbSNP:rs12417164</li><li>Q->E at 60: in dbSNP:rs11602499</li><li>L->R at 178: in dbSNP:rs7117260</li><li>L->F at 264: in dbSNP:rs12361955</li>									<li>rs12361955</li><li>rs7117260</li><li>rs11602499</li><li>rs12417164</li>	2
Q8NGK0	81282		<li>A->E at 94: in dbSNP:rs16907312</li><li>E->Q at 96: in dbSNP:rs12419598</li>									<li>rs12419598</li><li>rs16907312</li>	2
Q8NGK1	79324		<li>S->L at 114: in dbSNP:rs10836954</li><li>R->H at 124: in dbSNP:rs34742470</li><li>Y->S at 125: in dbSNP:rs1378739</li><li>I->T at 195: in dbSNP:rs12796015</li>									<li>rs34742470</li><li>rs10836954</li><li>rs1378739</li><li>rs12796015</li>	2
Q8NGK2	143496		<li>T->I at 139: in dbSNP:rs11031961</li>									rs11031961	2
Q8NGK3			<li>R->C at 124: in dbSNP:rs11032296</li><li>R->H at 236: in dbSNP:rs331537</li><li>R->C at 302: in dbSNP:rs7934336</li>									<li>rs331537</li><li>rs11032296</li><li>rs7934336</li>	2
Q8NGK5	119772		<li>S->L at 9: in dbSNP:rs7112010</li><li>S->R at 305: in dbSNP:rs2657167</li>									<li>rs7112010</li><li>rs2657167</li>	2
Q8NGK6	390037		<li>T->I at 41: in dbSNP:rs2010722</li>									rs2010722	2
Q8NGK9	390144		<li>A->T at 156: in dbSNP:rs6591700</li>									rs6591700	2
Q8NGL0	26338		<li>M->R at 81: in dbSNP:rs17148058</li>									rs17148058	2
Q8NGL1	219438		<li>Y->C at 36: in dbSNP:rs7948629</li><li>V->M at 118: in dbSNP:rs11231180</li><li>N->D at 136: in dbSNP:rs297081</li>									<li>rs7948629</li><li>rs297081</li><li>rs11231180</li>	2
Q8NGL2	219437		<li>I->F at 46: in dbSNP:rs2869020</li><li>S->P at 287: in dbSNP:rs12790505</li>									<li>rs12790505</li><li>rs2869020</li>	2
Q8NGL3	219436		<li>S->A at 249: in dbSNP:rs297054</li><li>L->P at 290: in dbSNP:rs297055</li>									<li>rs297054</li><li>rs297055</li>	2
Q8NGL4	390142		<li>C->Y at 62: in dbSNP:rs297118</li><li>R->H at 124: in dbSNP:rs11230983</li><li>R->L at 236: in dbSNP:rs7124871</li>									<li>rs11230983</li><li>rs297118</li><li>rs7124871</li>	2
Q8NGL9	219428		<li>V->L at 25: in dbSNP:rs12800642</li><li>T->A at 49: in dbSNP:rs558465</li><li>T->A at 76: in dbSNP:rs557590</li><li>A->T at 203: in dbSNP:rs12288690</li><li>L->P at 259: in dbSNP:rs559449</li>									<li>rs12288690</li><li>rs557590</li><li>rs558465</li><li>rs559449</li><li>rs12800642</li>	2
Q8NGM8	390261		<li>T->K at 276: in dbSNP:rs4936845</li>									rs4936845	2
Q8NGM9	338662		<li>L->R at 55: in dbSNP:rs17127947</li><li>I->V at 92: in dbSNP:rs17127950</li><li>C->Y at 120: in dbSNP:rs10750250</li><li>R->K at 133: in dbSNP:rs7926767</li><li>F->L at 200: in dbSNP:rs10790610</li><li>F->S at 205: in dbSNP:rs12270203</li><li>L->P at 283: in dbSNP:rs7942047</li><li>R->K at 298: in dbSNP:rs7927385</li>									<li>rs12270203</li><li>rs10790610</li><li>rs10750250</li><li>rs7942047</li><li>rs7926767</li><li>rs17127947</li><li>rs7927385</li><li>rs17127950</li>	2
Q8NGN1	219874		<li>I->T at 23: in dbSNP:rs6590022</li><li>R->W at 64: in dbSNP:rs6590021</li><li>I->V at 251: in dbSNP:rs7937317</li>									<li>rs6590022</li><li>rs6590021</li><li>rs7937317</li>	2
Q8NGN3	390264		<li>L->P at 24: in dbSNP:rs547068</li><li>M->V at 134: in dbSNP:rs1893766</li><li>P->S at 181: in dbSNP:rs1893764</li><li>V->E at 195: in dbSNP:rs4084209</li><li>R->Q at 226: in dbSNP:rs11219408</li><li>R->G at 235: in dbSNP:rs4936880</li><li>K->Q at 295: in dbSNP:rs4936881</li>									<li>rs1893764</li><li>rs11219408</li><li>rs4084209</li><li>rs4936880</li><li>rs1893766</li><li>rs4936881</li><li>rs547068</li>	2
Q8NGN4	219870		<li>M->V at 134: in dbSNP:rs12366219</li><li>S->T at 136: in dbSNP:rs17128190</li><li>Q->R at 172: in dbSNP:rs11219413</li>									<li>rs17128190</li><li>rs12366219</li><li>rs11219413</li>	2
Q8NGN6	390265		<li>T->S at 5: in dbSNP:rs3894197</li><li>T->M at 13: in dbSNP:rs11827843</li><li>A->V at 18: in dbSNP:rs3894198</li><li>G->A at 20: in dbSNP:rs3894199</li><li>I->V at 28: in dbSNP:rs11219420</li><li>T->A at 90: in dbSNP:rs470208</li><li>T->S at 136: in dbSNP:rs513591</li>									<li>rs470208</li><li>rs3894199</li><li>rs513591</li><li>rs11827843</li><li>rs11219420</li><li>rs3894197</li><li>rs3894198</li>	2
Q8NGP2	219477		<li>G->V at 36: in dbSNP:rs7927015</li><li>M->L at 114: in dbSNP:rs7942730</li>									<li>rs7927015</li><li>rs7942730</li>	2
Q8NGP3	390162		<li>K->R at 270: in dbSNP:rs1945237</li>									rs1945237	2
Q8NGQ1	283189		<li>F->S at 43: in dbSNP:rs11228763</li><li>N->D at 206: in dbSNP:rs577576</li><li>V->A at 222: in dbSNP:rs513873</li>									<li>rs11228763</li><li>rs513873</li><li>rs577576</li>	2
Q8NGQ4	219960		<li>E->D at 12: in dbSNP:rs4245219</li>									rs4245219	2
Q8NGQ5	219956		<li>R->L at 159: in dbSNP:rs12420738</li>									rs12420738	2
Q8NGR3	392392		<li>W->R at 271: in dbSNP:rs7046603</li>									rs7046603	2
Q8NGR5	254973		<li>G->R at 234: in dbSNP:rs2215530</li><li>Y->H at 310: in dbSNP:rs12341025</li>									<li>rs12341025</li><li>rs2215530</li>	2
Q8NGR6	347169		<li>L->S at 149: in dbSNP:rs1536929</li><li>A->T at 230: in dbSNP:rs1476859</li><li>C->W at 263: in dbSNP:rs1476858</li><li>V->G at 314: in dbSNP:rs1556189</li>									<li>rs1536929</li><li>rs1476859</li><li>rs1476858</li><li>rs1556189</li>	2
Q8NGR8	138881		<li>T->P at 27: in dbSNP:rs10985704</li><li>R->P at 211: in dbSNP:rs10739614</li>									<li>rs10985704</li><li>rs10739614</li>	2
Q8NGR9	138882		<li>W->R at 37: in dbSNP:rs1831370</li><li>V->G at 244: in dbSNP:rs1341044</li><li>T->M at 301: in dbSNP:rs1411272</li>									<li>rs1411272</li><li>rs1341044</li><li>rs1831370</li>	2
Q8NGS0	138883		<li>P->S at 18: in dbSNP:rs10818708</li><li>T->N at 190: in a breast cancer sample; somatic mutation</li>									rs10818708	2
Q8NGS2	26740		<li>R->Q at 165: in dbSNP:rs4836891</li>									rs4836891	2
Q8NGS4	138805		<li>F->S at 18: in dbSNP:rs7049042</li><li>F->S at 94: in dbSNP:rs7018553</li><li>M->V at 101: in dbSNP:rs1403812</li><li>V->I at 134: in dbSNP:rs1403811</li><li>T->M at 254: in dbSNP:rs7030820</li><li>I->T at 270: in dbSNP:rs7847413</li>									<li>rs7847413</li><li>rs1403812</li><li>rs1403811</li><li>rs7049042</li><li>rs7030820</li><li>rs7018553</li>	2
Q8NGS6	138803		<li>K->T at 293: in dbSNP:rs10512330</li>									rs10512330	2
Q8NGS7	138802		<li>A->D at 19: in dbSNP:rs7026705</li>									rs7026705	2
Q8NGS8	138799		<li>S->F at 18: in dbSNP:rs1851722</li><li>F->L at 32: in dbSNP:rs6479260</li><li>C->Y at 189: in dbSNP:rs4117966</li><li>N->S at 195: in dbSNP:rs6479259</li><li>M->T at 258: in dbSNP:rs1851724</li><li>I->V at 282: in dbSNP:rs1523678</li><li>M->T at 290: in dbSNP:rs1851725</li>									<li>rs1523678</li><li>rs4117966</li><li>rs6479259</li><li>rs6479260</li><li>rs1851722</li><li>rs1851725</li><li>rs1851724</li>	2
Q8NGT0	286362		<li>E->D at 24: in dbSNP:rs2900373</li><li>T->S at 91: in dbSNP:rs993658</li><li>F->L at 197: in dbSNP:rs10761054</li>									<li>rs10761054</li><li>rs2900373</li><li>rs993658</li>	2
Q8NGT2	392309		<li>H->R at 133: in dbSNP:rs7044405</li>									rs7044405	2
Q8NGT5	135924		<li>R->H at 53: in dbSNP:rs9885986</li>									rs9885986	2
Q8NGT7	346525		<li>A->T at 223: in dbSNP:rs9655672</li>									rs9655672	2
Q8NGV0	134083		<li>R->C at 128: in dbSNP:rs11960429</li><li>V->M at 154: in dbSNP:rs11954074</li><li>V->L at 200: in dbSNP:rs10464105</li>									<li>rs10464105</li><li>rs11954074</li><li>rs11960429</li>	2
Q8NGV7	79310		<li>I->V at 230: in dbSNP:rs16839214</li><li>R->C at 266: in dbSNP:rs17787561</li><li>I->V at 286: in dbSNP:rs16839611</li>									<li>rs16839611</li><li>rs17787561</li><li>rs16839214</li>	2
Q8NGX0	391189		<li>G->S at 108: in dbSNP:rs10888257</li><li>F->L at 117: in dbSNP:rs4607924</li><li>A->T at 142: in dbSNP:rs10888256</li><li>R->P at 171: in dbSNP:rs10888255</li>									<li>rs10888255</li><li>rs10888256</li><li>rs10888257</li><li>rs4607924</li>	2
Q8NGX3	128360		<li>V->A at 16: in dbSNP:rs6660222</li><li>F->L at 65: in dbSNP:rs41488350</li><li>I->V at 78: in dbSNP:rs6662597</li><li>I->M at 137: in dbSNP:rs6662382</li><li>F->L at 155: in dbSNP:rs12062580</li><li>K->N at 312: in dbSNP:rs6692949</li>									<li>rs6662597</li><li>rs41488350</li><li>rs6692949</li><li>rs12062580</li><li>rs6662382</li><li>rs6660222</li>	2
Q8NGY0	128367		<li>I->T at 60: in dbSNP:rs863363</li><li>A->S at 81: in dbSNP:rs950164</li><li>S->P at 172: in dbSNP:rs7550131</li><li>F->L at 180: in dbSNP:rs16840360</li>									<li>rs16840360</li><li>rs950164</li><li>rs863363</li><li>rs7550131</li>	2
Q8NGY1	128368		<li>N->T at 294: in dbSNP:rs857685</li>									rs857685	2
Q8NGY2	81448		<li>R->Q at 6: in dbSNP:rs413029</li><li>L->V at 156: in dbSNP:rs423141</li><li>I->F at 159: in dbSNP:rs6686179</li>									<li>rs423141</li><li>rs6686179</li><li>rs413029</li>	2
Q8NGY5	128372		<li>A->T at 10: in dbSNP:rs1864346</li><li>I->T at 194: in dbSNP:rs857827</li><li>F->L at 245: in dbSNP:rs857826</li><li>Q->R at 261: in dbSNP:rs857825</li><li>R->H at 293: in dbSNP:rs857824</li>									<li>rs1864346</li><li>rs857827</li><li>rs857826</li><li>rs857825</li><li>rs857824</li>	2
Q8NGY6	81442		<li>A->V at 204: in dbSNP:rs12027473</li>									rs12027473	2
Q8NGY9	391190		<li>Y->C at 217: in dbSNP:rs4925583</li>									rs4925583	2
Q8NGZ3	441933		<li>I->V at 132: in dbSNP:rs1151640</li>									rs1151640	2
Q8NGZ4	81469		<li>L->S at 164: in dbSNP:rs6658792</li><li>V->M at 258: in dbSNP:rs12072304</li>									<li>rs12072304</li><li>rs6658792</li>	2
Q8NGZ5	81470		<li>P->A at 24: in dbSNP:rs12737801</li><li>V->L at 120: in dbSNP:rs1151687</li><li>L->P at 167: in dbSNP:rs10925085</li><li>R->G at 236: in dbSNP:rs869111</li>									<li>rs1151687</li><li>rs869111</li><li>rs12737801</li><li>rs10925085</li>	2
Q8NGZ6	343169		<li>P->A at 159: in dbSNP:rs6665599</li><li>F->L at 215: in dbSNP:rs2282316</li>									<li>rs6665599</li><li>rs2282316</li>	2
Q8NH01	127077		<li>C->R at 119: in dbSNP:rs1892443</li><li>Q->R at 309: in dbSNP:rs1892442</li>									<li>rs1892442</li><li>rs1892443</li>	2
Q8NH03	343173		<li>M->T at 204: in dbSNP:rs1770110</li>									rs1770110	2
Q8NH04	403239		<li>L->V at 36: in dbSNP:rs1782242</li>									rs1782242	2
Q8NH05	441669		<li>T->A at 135: in dbSNP:rs17210864</li><li>F->L at 238: in dbSNP:rs12896533</li>									<li>rs12896533</li><li>rs17210864</li>	2
Q8NH09			<li>V->M at 48: in dbSNP:rs2731073</li>									rs2731073	2
Q8NH10	219417		<li>H->R at 20: in dbSNP:rs11228166</li><li>I->V at 109: in dbSNP:rs12788990</li><li>S->C at 112: in dbSNP:rs10791961</li><li>R->C at 165: in dbSNP:rs17150411</li><li>L->V at 288: in dbSNP:rs1573509</li><li>Q->R at 293: in dbSNP:rs12272403</li>									<li>rs11228166</li><li>rs1573509</li><li>rs10791961</li><li>rs12788990</li><li>rs12272403</li><li>rs17150411</li>	2
Q8NH16	26246		<li>F->L at 249: in dbSNP:rs12134979</li><li>V->L at 259: in dbSNP:rs6658141</li>									<li>rs6658141</li><li>rs12134979</li>	2
Q8NH18	282775		<li>M->I at 136: in dbSNP:rs12279899</li>									rs12279899	2
Q8NH42	390433		<li>Q->K at 292: in dbSNP:rs17277025</li>									rs17277025	2
Q8NH43	122742		<li>D->N at 2: in dbSNP:rs1958715</li><li>M->V at 40: in dbSNP:rs1958716</li><li>R->S at 52: in dbSNP:rs1959630</li><li>S->F at 93: in dbSNP:rs10139756</li><li>M->K at 101: in dbSNP:rs2775253</li><li>G->S at 109: in dbSNP:rs2775254</li>									<li>rs2775253</li><li>rs2775254</li><li>rs1958716</li><li>rs1959630</li><li>rs1958715</li><li>rs10139756</li>	2
Q8NH48	441608		<li>P->L at 30: in dbSNP:rs17152661</li><li>I->F at 35: in dbSNP:rs17152659</li><li>W->R at 49: in dbSNP:rs11229413</li><li>N->S at 170: in dbSNP:rs12280114</li><li>A->T at 181: in dbSNP:rs11229411</li><li>I->V at 198: in dbSNP:rs11229410</li><li>G->A at 247: in dbSNP:rs11229409</li><li>K->R at 296: in dbSNP:rs12279895</li>									<li>rs11229409</li><li>rs12279895</li><li>rs17152661</li><li>rs12280114</li><li>rs11229410</li><li>rs11229411</li><li>rs17152659</li><li>rs11229413</li>	2
Q8NH49	390113		<li>R->G at 144: in dbSNP:rs1503193</li><li>P->L at 165: in dbSNP:rs16905753</li><li>L->Q at 196: in dbSNP:rs12798361</li><li>D->N at 246: in dbSNP:rs17199104</li><li>P->S at 282: in dbSNP:rs10838852</li>									<li>rs12798361</li><li>rs10838852</li><li>rs17199104</li><li>rs1503193</li><li>rs16905753</li>	2
Q8NH50	219453		<li>F->S at 68: in dbSNP:rs2512938</li>									rs2512938	2
Q8NH51	219473		<li>L->R at 122: in dbSNP:rs960193</li><li>V->I at 173: in dbSNP:rs12291617</li><li>I->M at 275: in dbSNP:rs17150317</li>									<li>rs960193</li><li>rs17150317</li><li>rs12291617</li>	2
Q8NH53	79473		<li>T->N at 79: in dbSNP:rs12365487</li><li>A->T at 101: in dbSNP:rs10742787</li><li>C->Y at 125: in dbSNP:rs10769224</li><li>R->C at 167: in dbSNP:rs7948009</li><li>F->I at 247: in dbSNP:rs7934670</li>									<li>rs12365487</li><li>rs7934670</li><li>rs10742787</li><li>rs7948009</li><li>rs10769224</li>	2
Q8NH54	390083		<li>M->T at 51: in dbSNP:rs1840178</li>									rs1840178	2
Q8NH55			<li>T->I at 165: in dbSNP:rs17234326</li><li>D->G at 209: in dbSNP:rs16926732</li><li>L->P at 234: in dbSNP:rs7106300</li><li>E->K at 309: in dbSNP:rs4601752</li>									<li>rs7106300</li><li>rs4601752</li><li>rs16926732</li><li>rs17234326</li>	2
Q8NH56			<li>V->I at 133: in dbSNP:rs12360738</li>									rs12360738	2
Q8NH59	390061		<li>T->I at 146: in dbSNP:rs10838092</li><li>C->R at 153: in dbSNP:rs10838093</li><li>V->I at 155: in dbSNP:rs10838094</li><li>R->H at 178: in dbSNP:rs10838095</li><li>V->M at 211: in dbSNP:rs2736586</li><li>F->S at 308: in dbSNP:rs2647573</li>									<li>rs2647573</li><li>rs2736586</li><li>rs10838095</li><li>rs10838094</li><li>rs10838093</li><li>rs10838092</li>	2
Q8NH60			<li>A->T at 77: in dbSNP:rs2500016</li><li>I->V at 128: in dbSNP:rs2500017</li><li>L->Q at 141: in dbSNP:rs2500018</li><li>V->I at 226: in dbSNP:rs17350764</li>									<li>rs2500017</li><li>rs2500018</li><li>rs2500016</li><li>rs17350764</li>	2
Q8NH64	119687		<li>E->K at 8: in dbSNP:rs11034596</li><li>M->T at 81: in dbSNP:rs7108225</li><li>V->A at 196: in dbSNP:rs7108654</li>									<li>rs11034596</li><li>rs7108225</li><li>rs7108654</li>	2
Q8NH67	143502		<li>L->P at 25: in dbSNP:rs7128702</li><li>I->L at 74: in dbSNP:rs12793957</li><li>T->M at 167: in dbSNP:rs1847632</li><li>I->V at 178: in dbSNP:rs7947426</li><li>I->V at 183: in dbSNP:rs7947432</li>									<li>rs7947432</li><li>rs12793957</li><li>rs7947426</li><li>rs1847632</li><li>rs7128702</li>	2
Q8NH69	390148		<li>F->L at 39: in dbSNP:rs17511797</li><li>H->R at 65: in dbSNP:rs12419022</li><li>M->T at 160: in dbSNP:rs17596519</li><li>A->P at 163: in dbSNP:rs17148883</li><li>R->C at 189: in dbSNP:rs2457239</li><li>F->L at 215: in dbSNP:rs17596422</li>									<li>rs17596422</li><li>rs17148883</li><li>rs2457239</li><li>rs12419022</li><li>rs17511797</li><li>rs17596519</li>	2
Q8NH70	81327		<li>L->I at 188: in dbSNP:rs11229158</li><li>H->R at 232: in dbSNP:rs12807769</li><li>K->M at 303: in dbSNP:rs10896659</li>									<li>rs12807769</li><li>rs11229158</li><li>rs10896659</li>	2
Q8NH72	219432		<li>I->T at 133: in dbSNP:rs11230600</li>									rs11230600	2
Q8NH74	390093		<li>A->V at 117: in dbSNP:rs7928451</li><li>V->G at 140: in dbSNP:rs7933807</li><li>L->P at 287: in dbSNP:rs4758258</li>									<li>rs7933807</li><li>rs7928451</li><li>rs4758258</li>	2
Q8NH76	196335		<li>P->S at 277: in dbSNP:rs1462983</li>									rs1462983	2
Q8NH79	390260		<li>T->N at 190: in dbSNP:rs12364099</li>									rs12364099	2
Q8NH83	81318		<li>N->S at 6: in dbSNP:rs10902343</li>									rs10902343	2
Q8NH85	219479		<li>I->T at 7: in dbSNP:rs7931261</li><li>C->Y at 103: in dbSNP:rs7123108</li><li>D->G at 121: in dbSNP:rs7111634</li><li>C->R at 122: in dbSNP:rs6591324</li><li>S->G at 128: in dbSNP:rs7933772</li><li>Y->H at 132: in dbSNP:rs17150578</li><li>I->T at 162: in dbSNP:rs12785840</li><li>F->L at 184: in dbSNP:rs7930678</li><li>A->V at 274: in dbSNP:rs998544</li>									<li>rs6591324</li><li>rs998544</li><li>rs7930678</li><li>rs7111634</li><li>rs7931261</li><li>rs7123108</li><li>rs17150578</li><li>rs12785840</li><li>rs7933772</li>	2
Q8NH87	390174		<li>C->R at 53: in dbSNP:rs532637</li><li>F->V at 61: in dbSNP:rs3975155</li><li>T->I at 83: in dbSNP:rs602224</li><li>Y->C at 112: in dbSNP:rs4990194</li><li>V->M at 117: in dbSNP:rs591369</li><li>R->C at 169: in dbSNP:rs11228733</li><li>E->K at 185: in dbSNP:rs11228735</li><li>K->Q at 231: in dbSNP:rs12420076</li><li>A->S at 259: in dbSNP:rs7121276</li>									<li>rs12420076</li><li>rs11228735</li><li>rs591369</li><li>rs11228733</li><li>rs3975155</li><li>rs7121276</li><li>rs602224</li><li>rs4990194</li><li>rs532637</li>	2
Q8NH90	390181		<li>G->V at 4: in dbSNP:rs10896563</li><li>M->I at 92: in dbSNP:rs2853083</li>									<li>rs2853083</li><li>rs10896563</li>	2
Q8NH92	219959		<li>S->G at 5: in dbSNP:rs1966836</li><li>I->T at 123: in dbSNP:rs1966835</li><li>H->R at 135: in dbSNP:rs1966834</li><li>N->D at 183: in dbSNP:rs1993088</li><li>L->M at 206: in dbSNP:rs2867400</li><li>S->I at 227: in dbSNP:rs2903566</li>									<li>rs1966835</li><li>rs1966834</li><li>rs1966836</li><li>rs1993088</li><li>rs2867400</li><li>rs2903566</li>	2
Q8NH93	26735		<li>V->A at 106: in dbSNP:rs16912096</li><li>N->D at 121: in dbSNP:rs16912099</li>									<li>rs16912099</li><li>rs16912096</li>	2
Q8NH94			<li>S->G at 145: in dbSNP:rs70157</li><li>T->A at 149: in dbSNP:rs16912055</li><li>L->V at 308: in dbSNP:rs237620</li><li>G->R at 349: in dbSNP:rs16912062</li>									<li>rs16912055</li><li>rs70157</li><li>rs237620</li><li>rs16912062</li>	2
Q8NHA4	81392		<li>I->T at 77: in dbSNP:rs2572023</li><li>L->V at 267: in dbSNP:rs17161997</li>									<li>rs2572023</li><li>rs17161997</li>	2
Q8NHC5	284532		<li>I->T at 238: in dbSNP:rs6695283</li>									rs6695283	2
Q8NHC8	254879		<li>T->N at 57: in dbSNP:rs6693032</li><li>L->P at 159: in dbSNP:rs6701129</li><li>S->A at 243: in dbSNP:rs954475</li>									<li>rs6701129</li><li>rs954475</li><li>rs6693032</li>	2
Q8NHH9	64225		<li>W->R at 18: in dbSNP:rs3731847</li><li>N->S at 272: in dbSNP:rs34873284</li><li>D->H at 420: in dbSNP:rs7582826</li>									<li>rs34873284</li><li>rs3731847</li><li>rs7582826</li>	2
Q8NHJ6	11006		<li>F->L at 5: in dbSNP:rs28366008</li><li>R->S at 18: in dbSNP:rs11574570</li><li>H->D at 20: in dbSNP:rs11540762</li><li>G->D at 223: in dbSNP:rs731170</li><li>C->Y at 330: in dbSNP:rs11574575</li><li>N->D at 335: in dbSNP:rs11574576</li><li>K->E at 362: in dbSNP:rs2764337</li><li>K->T at 362: in dbSNP:rs11574589</li><li>Q->R at 414: in dbSNP:rs1048801</li>									<li>rs731170</li><li>rs11574570</li><li>rs28366008</li><li>rs11540762</li><li>rs1048801</li><li>rs2764337</li><li>rs11574589</li><li>rs11574576</li><li>rs11574575</li>	2
Q8NHP1	246181		<li>A->T at 255: in dbSNP:rs2235795</li><li>F->V at 322: in dbSNP:rs2982534</li>									<li>rs2982534</li><li>rs2235795</li>	2
Q8NHP6	158747		<li>S->N at 240: in dbSNP:rs35164803</li>									rs35164803	2
Q8NHP7	161829		<li>A->T at 489: in dbSNP:rs522063</li>									rs522063	2
Q8NHP8	196463		<li>R->C at 524: in dbSNP:rs12425042</li>									rs12425042	2
Q8NHQ1	80321		<li>S->N at 135: in dbSNP:rs1673607</li>									rs1673607	2
Q8NHQ9			<li>V->L at 101: in dbSNP:rs17881657</li><li>E->G at 154: in dbSNP:rs17886035</li><li>N->S at 264: in dbSNP:rs11057306</li><li>N->S at 556: in dbSNP:rs10773019</li>									<li>rs11057306</li><li>rs17886035</li><li>rs17881657</li><li>rs10773019</li>	2
Q8NHR7	145645		<li>P->R at 31: in dbSNP:rs11638723</li>									rs11638723	2
Q8NHS0	165721		<li>M->L at 153: in dbSNP:rs35948511</li>									rs35948511	2
Q8NHS3	256471		<li>V->G at 109: in dbSNP:rs11732377</li><li>G->D at 310: in CLN7; lysosomal localization, MIM: 610951</li><li>G->R at 385: in dbSNP:rs11098943, MIM: 610951</li><li>A->V at 423: in dbSNP:rs3733319, MIM: 610951</li><li>G->D at 429: in CLN7; lysosomal localization, MIM: 610951</li>	localization	GO:0051179						Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	<li>rs3733319</li><li>rs11732377</li><li>rs11098943</li>	2
Q8NHS4	130162		<li>A->V at 178: in dbSNP:rs9677948</li><li>I->V at 426: in dbSNP:rs6716066</li><li>A->V at 503: in dbSNP:rs14026</li><li>D->Y at 552: in dbSNP:rs3186099</li>									<li>rs14026</li><li>rs3186099</li><li>rs9677948</li><li>rs6716066</li>	2
Q8NHS9	84690		<li>R->T at 112: in dbSNP:rs2291604</li><li>M->V at 148: in dbSNP:rs1488690</li><li>Q->R at 155: in dbSNP:rs11556563</li><li>T->I at 160: in dbSNP:rs1488689</li>									<li>rs1488690</li><li>rs11556563</li><li>rs1488689</li><li>rs2291604</li>	2
Q8NHU2	26074		<li>P->R at 74: in dbSNP:rs17852602</li><li>H->R at 254: in dbSNP:rs6075614</li><li>V->I at 369: in dbSNP:rs6081901</li><li>P->L at 371: in dbSNP:rs6075628</li><li>D->E at 505: in dbSNP:rs7344530</li><li>P->L at 660: in dbSNP:rs6081930</li><li>V->I at 671: in dbSNP:rs6046740</li>									<li>rs6081930</li><li>rs6075628</li><li>rs6081901</li><li>rs6075614</li><li>rs7344530</li><li>rs17852602</li><li>rs6046740</li>	2
Q8NHU3	166929		<li>T->M at 21: in dbSNP:rs17038204</li>									rs17038204	2
Q8NHU6	23424		<li>V->A at 150: in dbSNP:rs2045732</li><li>P->L at 456: in dbSNP:rs17852595</li>									<li>rs2045732</li><li>rs17852595</li>	2
Q8NHV1	168537		<li>R->C at 83: in dbSNP:rs3735080</li>									rs3735080	2
Q8NHV9	158800		<li>R->H at 172: in dbSNP:rs2301977</li>									rs2301977	2
Q8NHW6	150677		<li>P->L at 7: in dbSNP rsrs35889242</li>									rs35889242	2
Q8NHX9	219931		<li>K->R at 376: in dbSNP:rs3750965</li><li>M->L at 484: associated with SHEP10; dbSNP:rs35264875</li><li>L->P at 564: in dbSNP:rs2376558</li><li>G->E at 734: associated with SHEP10; dbSNP:rs3829241</li>									<li>rs2376558</li><li>rs3750965</li><li>rs3829241</li><li>rs35264875</li>	2
Q8NHY0	124872		<li>D->A at 40: in dbSNP:rs7207403</li><li>P->H at 459: in a colorectal cancer sample; somatic mutation</li><li>C->R at 466: in dbSNP:rs7224888</li>									<li>rs7207403</li><li>rs7224888</li>	2
Q8NHY3	246176		<li>A->T at 540: in dbSNP:rs12602590</li><li>A->V at 654: in dbSNP:rs3744374</li>									<li>rs12602590</li><li>rs3744374</li>	2
Q8NHY5	135458		<li>H->Q at 130: in dbSNP:rs1766848</li><li>Q->R at 201: in dbSNP:rs17136239</li><li>Y->D at 268: in dbSNP:rs1211554</li>									<li>rs1211554</li><li>rs17136239</li><li>rs1766848</li>	2
Q8NHY6	140612		<li>S->W at 141: in dbSNP:rs34136271</li><li>A->V at 620: in dbSNP:rs10409531</li>									<li>rs10409531</li><li>rs34136271</li>	2
Q8NI22	90411		<li>D->E at 129: in F5F8D: in dbSNP rsrs28942113, MIM: 227300</li><li>I->T at 136: in F5F8D: in dbSNP rsrs28942114, MIM: 227300</li>							P49257	Factor V and factor VIII combined deficiency (F5F8D) [MIM:227300]	<li>rs28942113</li><li>rs28942114</li>	2
Q8NI36	134430		<li>L->P at 25: possible disease-susceptibility mutation</li><li>A->V at 163: possible disease-susceptibility mutation</li><li>Y->P at 216: possible disease-susceptibility mutation; requires 2 nucleotide substitutions</li><li>I->V at 264: in dbSNP:rs11241095</li><li>N->S at 355: in GLC1G, MIM: 609887</li><li>A->T at 449: in GLC1G: in dbSNP rsrs35703638, MIM: 609887</li><li>E->Q at 454: in dbSNP:rs17623803, MIM: 609887</li><li>R->Q at 529: in GLC1G, MIM: 609887</li><li>D->G at 658: in GLC1G: in dbSNP rsrs34595252, MIM: 609887</li><li>M->V at 671: in dbSNP:rs11956837, MIM: 609887</li>								Primary open angle glaucoma type 1G (GLC1G) [MIM:609887]	<li>rs35703638</li><li>rs11241095</li><li>rs34595252</li><li>rs17623803</li><li>rs11956837</li>	2
Q8NI38	84807		<li>V->A at 29: in dbSNP:rs8113704</li>									rs8113704	2
Q8NI51	140690		<li>E->Q at 50: in dbSNP:rs6070128</li><li>A->T at 177: in dbSNP:rs6025606</li><li>Q->E at 525: in dbSNP:rs6070122</li>									<li>rs6070128</li><li>rs6025606</li><li>rs6070122</li>	2
Q8NI60	56997		<li>H->Q at 85: in dbSNP:rs2297411</li><li>R->W at 213: in coenzyme Q10 deficiency, MIM: 607426</li><li>G->D at 272: in coenzyme Q10 deficiency, MIM: 607426</li><li>G->V at 272: in coenzyme Q10 deficiency, MIM: 607426</li><li>I->T at 341: in dbSNP:rs55798516, MIM: 607426</li><li>Y->C at 514: in SCAR9, MIM: 612016</li><li>G->S at 549: in SCAR9, MIM: 612016</li><li>E->K at 551: in coenzyme Q10 deficiency, MIM: 607426</li><li>Missing  at 584: in SCAR9, MIM: 607426</li>								<li>Spinocerebellar ataxia autosomal recessive type 9 (SCAR9) [MIM:612016]</li><li>Coenzyme Q10 deficiency [MIM:607426]</li>	<li>rs2297411</li><li>rs55798516</li>	2
Q8NI77	81930		<li>T->A at 273: in dbSNP:rs12272419</li><li>P->S at 334: in dbSNP:rs34913484</li><li>I->V at 735: in dbSNP:rs10458896</li>									<li>rs12272419</li><li>rs34913484</li><li>rs10458896</li>	2
Q8TA86	6100		<li>H->L at 137: in RP9, MIM: 180104</li><li>D->G at 170: in RP9, MIM: 180104</li><li>K->R at 210, MIM: 180104</li>							<li>Q8TA86</li><li>P02365</li>	Retinitis pigmentosa type 9 (RP9) [MIM:180104]		2
Q8TAA1	122651		<li>P->S at 5: in dbSNP:rs17113756</li><li>T->S at 74: in dbSNP:rs35818240</li>									<li>rs17113756</li><li>rs35818240</li>	2
Q8TAA9	81839		<li>A->T at 116: in dbSNP:rs4839469</li><li>V->I at 239: in SDAM; abolishes ability to interact with DVL1, DVL2 and DVL3, MIM: 600145</li><li>R->Q at 274: in NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3, MIM: 182940</li><li>M->T at 328: in NTD; does not abolish ability to interact with DVL1, DVL2 and DVL3, MIM: 182940</li><li>E->A at 347: in dbSNP:rs34059106, MIM: 182940</li>							<li>P54792</li><li>Q5IS48</li><li>O14641</li><li>O14640</li><li>Q92997</li>	<li>Sacral defect with anterior meningocele (SDAM) [MIM:600145]</li><li>Neural tube defects (NTD) [MIM:182940]</li>	<li>rs4839469</li><li>rs34059106</li>	2
Q8TAB3			<li>V->E at 441: in EFMR, MIM: 300088</li><li>N->K at 557: in EFMR, MIM: 300088</li>								Epilepsy, female-restricted, with mental retardation (EFMR) [MIM:300088]		2
Q8TAD1	171489		<li>V->L at 68: in dbSNP:rs5953618</li>									rs5953618	2
Q8TAE6	81706		<li>T->A at 10: in dbSNP:rs2297672</li>									rs2297672	2
Q8TAF7	92283		<li>N->S at 87: in dbSNP:rs10419469</li>									rs10419469	2
Q8TAF8	222662		<li>Y->C at 127: in DFNB67, MIM: 610265</li><li>T->M at 165: in DFNB67, MIM: 610265</li><li>R->L at 176: in DFNB67, MIM: 610265</li>								Autosomal recessive non-syndromic sensorineural deafness 67 (DFNB67) [MIM:610265]		2
Q8TAG5			<li>E->K at 83: in dbSNP:rs17855529</li>									rs17855529	2
Q8TAG9	54536		<li>T->I at 396: in dbSNP:rs1326331</li><li>L->V at 523: in dbSNP:rs11187225</li><li>T->I at 578: in dbSNP:rs35647717</li>									<li>rs11187225</li><li>rs1326331</li><li>rs35647717</li>	2
Q8TAI1	494514		<li>G->R at 62: in dbSNP:rs2853533</li>									rs2853533	2
Q8TAK5	126626		<li>V->I at 62: in dbSNP:rs11204774</li>									rs11204774	2
Q8TAM1	79738		<li>R->P at 34: in BBS10, MIM: 209900</li><li>R->W at 49: in BBS10, MIM: 209900</li><li>C->W at 91: in BBS10, MIM: 209900</li><li>L->S at 170: in BBS10, MIM: 209900</li><li>C->W at 195: in BBS10, MIM: 209900</li><li>Y->C at 197: in BBS10, MIM: 209900</li><li>V->G at 240: in BBS10, MIM: 209900</li><li>L->F at 308: in BBS10, MIM: 209900</li><li>S->A at 311: in BBS10, MIM: 209900</li><li>S->L at 329: in BBS10, MIM: 209900</li><li>P->L at 363: in BBS10, MIM: 209900</li><li>L->F at 376: in dbSNP:rs11109474, MIM: 209900</li><li>L->S at 414: in BBS10, MIM: 209900</li><li>P->L at 539: in dbSNP:rs35676114, MIM: 209900</li><li>K->R at 579: in BBS10, MIM: 209900</li><li>Y->C at 613: in BBS10, MIM: 209900</li><li>Y->H at 613: in BBS10, MIM: 209900</li><li>G->V at 677: in BBS10, MIM: 209900</li><li>T->P at 689: in BBS10, MIM: 209900</li>							<li>Q5R8P3</li><li>Q8TAM1</li>	Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]	<li>rs35676114</li><li>rs11109474</li>	2
Q8TAM2			<li>Missing  at 187-188: in BBS8</li>							Q8TAM2			2
Q8TAP9	136647		<li>G->E at 29: in a breast cancer sample; somatic mutation</li><li>M->V at 144: in TTDN1, MIM: 234050</li>							Q8TAP9	Trichothiodystrophy non-photosensitive type 1 (TTDN1) [MIM:234050]		2
Q8TAQ9	256979		<li>I->V at 127: in dbSNP:rs17852360</li><li>L->V at 177: in dbSNP:rs7797657</li>									<li>rs17852360</li><li>rs7797657</li>	2
Q8TAT2	143282		<li>E->V at 206: in dbSNP:rs1107947</li>									rs1107947	2
Q8TAT5	55247		<li>R->C at 38: in dbSNP rsrs34007209</li><li>N->NN at 58</li><li>V->M at 76: in dbSNP rsrs34112288</li><li>P->R at 117: in dbSNP:rs7689099</li><li>Q->H at 172: in dbSNP rsrs17064658</li><li>H->R at 286: in dbSNP rsrs34193982</li><li>I->V at 346: in dbSNP rsrs17064676</li><li>L->P at 443: in dbSNP:rs13112358</li><li>H->Q at 471: in dbSNP rsrs13112390</li><li>R->G at 520: in dbSNP:rs1876268</li><li>A->S at 547: in dbSNP rsrs36005630</li><li>H->R at 556: in dbSNP rsrs35418725</li>									<li>rs1876268</li><li>rs17064676</li><li>rs34193982</li><li>rs34112288</li><li>rs13112358</li><li>rs17064658</li><li>rs35418725</li><li>rs36005630</li><li>rs13112390</li><li>rs34007209</li><li>rs7689099</li>	2
Q8TAV3	54905		<li>A->T at 181: in dbSNP:rs3735684</li>									rs3735684	2
Q8TAW3	79891		<li>A->V at 149: in dbSNP:rs3746207</li><li>P->S at 237: in dbSNP:rs34419645</li>									<li>rs34419645</li><li>rs3746207</li>	2
Q8TAX7	4589		<li>N->K at 80: in dbSNP:rs6826961</li>									rs6826961	2
Q8TAX9	55876		<li>E->G at 122: in dbSNP:rs12450091</li><li>T->A at 132: in dbSNP:rs4619433</li><li>D->G at 245: in a breast cancer sample; somatic mutation</li><li>G->R at 299: in dbSNP:rs2305479</li><li>P->S at 306: in dbSNP:rs2305480</li><li>R->C at 325: in dbSNP:rs16965388</li>									<li>rs4619433</li><li>rs16965388</li><li>rs12450091</li><li>rs2305479</li><li>rs2305480</li>	2
Q8TAY4			<li>Q->H at 69: in dbSNP:rs35549148</li>									rs35549148	2
Q8TAY7	79927		<li>H->R at 53: in dbSNP:rs3748856</li>									rs3748856	2
Q8TAZ6	146225		<li>I->T at 122: in dbSNP:rs2290182</li>									rs2290182	2
Q8TB03	159013		<li>T->A at 176: in dbSNP:rs17145855</li>									rs17145855	2
Q8TB22	64847		<li>Q->E at 88: in dbSNP:rs8076632</li><li>S->T at 483: in dbSNP:rs9913430</li><li>R->K at 609: in dbSNP:rs8065903</li>									<li>rs8076632</li><li>rs8065903</li><li>rs9913430</li>	2
Q8TB24	79890		<li>E->K at 111: in dbSNP:rs2274542</li><li>H->P at 215: in dbSNP:rs3829947</li><li>T->I at 425: in dbSNP:rs3742717</li><li>T->M at 425: in dbSNP:rs3742717</li><li>G->A at 613: in dbSNP:rs12434929</li>									<li>rs2274542</li><li>rs3829947</li><li>rs12434929</li><li>rs3742717</li>	2
Q8TB36	54332		<li>R->Q at 120: in CMT4A, MIM: 214400</li><li>R->H at 161: in CMT4A, MIM: 214400</li><li>R->C at 282: in CMT4A: in dbSNP rsrs28937906, MIM: 214400</li><li>R->Q at 310: in CMT2RV, MIM: 607706</li>								<li>Charcot-Marie-Tooth disease axonal recessive with vocal cord paresis (CMT2RV) [MIM:607706]</li><li>Charcot-Marie-Tooth disease type 4A (CMT4A) [MIM:214400]</li>	rs28937906	2
Q8TB37	80224		<li>N->T at 198: in dbSNP:rs17855507</li>									rs17855507	2
Q8TB45	64798		<li>N->S at 148: in dbSNP:rs34057546</li><li>S->N at 204: in dbSNP:rs2271900</li><li>S->N at 389: in dbSNP:rs4871827</li>									<li>rs4871827</li><li>rs2271900</li><li>rs34057546</li>	2
Q8TB52	84085		<li>S->C at 8: in a colorectal cancer sample; somatic mutation</li><li>V->M at 375: in dbSNP:rs9373475</li><li>S->C at 382: in dbSNP:rs17075385</li><li>H->Q at 583: in dbSNP:rs3811102</li>									<li>rs3811102</li><li>rs17075385</li><li>rs9373475</li>	2
Q8TB61	347734		<li>L->V at 342: in dbSNP:rs3734707</li>									rs3734707	2
Q8TB68	80758		<li>P->H at 127: in dbSNP:rs17851889</li>									rs17851889	2
Q8TB69	162655		<li>W->R at 18: in dbSNP:rs16941623</li><li>G->S at 89: in dbSNP:rs10221432</li><li>E->K at 206: in dbSNP:rs2159940</li><li>R->I at 229: in dbSNP:rs8094412</li>									<li>rs8094412</li><li>rs10221432</li><li>rs2159940</li><li>rs16941623</li>	2
Q8TBB5	54758		<li>L->V at 56: in dbSNP:rs2303772</li><li>T->I at 102: in dbSNP:rs2303771</li><li>L->V at 155: in dbSNP:rs3751727</li>									<li>rs3751727</li><li>rs2303771</li><li>rs2303772</li>	2
Q8TBB6	57709		<li>G->R at 330: in dbSNP:rs2276717</li>									rs2276717	2
Q8TBC3	92799		<li>Q->L at 507: in dbSNP:rs17855499</li>									rs17855499	2
Q8TBC5	65982		<li>G->E at 379: in dbSNP:rs2258557</li>									rs2258557	2
Q8TBE0	22893		<li>E->G at 26: in dbSNP:rs3743143</li><li>D->H at 182: in dbSNP:rs17856679</li><li>Q->K at 298: in dbSNP:rs3803357</li>									<li>rs17856679</li><li>rs3743143</li><li>rs3803357</li>	2
Q8TBE3	408263		<li>H->N at 50: in dbSNP:rs17852104</li><li>V->I at 138: in dbSNP:rs10037485</li><li>P->A at 166: in dbSNP:rs17054522</li>									<li>rs10037485</li><li>rs17054522</li><li>rs17852104</li>	2
Q8TBE7	80723		<li>R->K at 400: in dbSNP:rs1052618</li>									rs1052618	2
Q8TBF4	85437		<li>P->Q at 131: in dbSNP:rs17852093</li>									rs17852093	2
Q8TBF5	54965		<li>P->L at 155: in dbSNP:rs2291397</li><li>E->D at 197: in dbSNP:rs17852091</li>									<li>rs17852091</li><li>rs2291397</li>	2
Q8TBG4	64850		<li>S->P at 185: in dbSNP:rs1377210</li>									rs1377210	2
Q8TBH0	27106		<li>R->H at 181: in dbSNP:rs17852061</li><li>R->H at 192: in dbSNP:rs17852062</li><li>A->T at 244: in dbSNP:rs8110271</li><li>L->P at 396: in dbSNP:rs7259041</li>									<li>rs17852062</li><li>rs7259041</li><li>rs17852061</li><li>rs8110271</li>	2
Q8TBJ5	55079		<li>P->T at 164: in dbSNP:rs17852031</li><li>S->W at 250: in dbSNP:rs17852032</li>									<li>rs17852032</li><li>rs17852031</li>	2
Q8TBN0	5866		<li>Q->R at 49: in dbSNP:rs174477</li><li>H->Y at 323: in dbSNP:rs3815045</li>									<li>rs3815045</li><li>rs174477</li>	2
Q8TBP0	125058		<li>E->K at 476: in dbSNP:rs34845477</li>									rs34845477	2
Q8TBP6	55972		<li>T->I at 123: in dbSNP:rs724665</li><li>K->Q at 186: in dbSNP:rs3213633</li>									<li>rs3213633</li><li>rs724665</li>	2
Q8TBR4	64940		<li>E->Q at 116: in dbSNP:rs1045513</li>									rs1045513	2
Q8TBX8	79837		<li>V->A at 84: in dbSNP:rs17550713</li><li>K->R at 241: in dbSNP:rs17852569</li><li>G->A at 300: in dbSNP:rs2277319</li>									<li>rs17852569</li><li>rs2277319</li><li>rs17550713</li>	2
Q8TBY8	83449		<li>A->T at 172: in dbSNP:rs217180</li><li>E->K at 193: in dbSNP:rs35370634</li><li>R->L at 381: in dbSNP:rs35781168</li><li>K->T at 650: in dbSNP:rs34832584</li>									<li>rs34832584</li><li>rs35781168</li><li>rs217180</li><li>rs35370634</li>	2
Q8TBY9	144406		<li>E->G at 66: in dbSNP:rs12824001</li><li>T->M at 388: in dbSNP:rs34768683</li><li>L->F at 450: in dbSNP:rs11043265</li>									<li>rs12824001</li><li>rs11043265</li><li>rs34768683</li>	2
Q8TBZ0	256309		<li>P->Q at 209: in dbSNP:rs7699687</li><li>L->M at 299: in dbSNP:rs7698680</li><li>L->M at 382: in dbSNP:rs9999097</li><li>S->F at 409: in dbSNP:rs11132306</li><li>I->M at 614: in dbSNP:rs35596415</li><li>Q->R at 669: in dbSNP:rs6827370</li><li>S->L at 817: in dbSNP:rs9683564</li><li>L->M at 819: in dbSNP:rs34800518</li>									<li>rs7699687</li><li>rs34800518</li><li>rs11132306</li><li>rs9999097</li><li>rs6827370</li><li>rs7698680</li><li>rs9683564</li><li>rs35596415</li>	2
Q8TBZ2			<li>A->T at 387: in dbSNP:rs1380657</li><li>R->W at 688: in dbSNP:rs9890721</li><li>S->R at 910: in dbSNP:rs1133818</li>									<li>rs1380657</li><li>rs9890721</li><li>rs1133818</li>	2
Q8TBZ3	91833		<li>P->H at 159: in dbSNP:rs17852545</li><li>G->C at 444: in dbSNP:rs12888595</li>									<li>rs12888595</li><li>rs17852545</li>	2
Q8TBZ5	91392		<li>L->P at 28: in dbSNP:rs6798400</li><li>E->A at 243: in dbSNP:rs7640654</li>									<li>rs7640654</li><li>rs6798400</li>	2
Q8TBZ6	93587		<li>P->Q at 82: in a breast cancer sample; somatic mutation</li><li>R->Q at 133: in dbSNP:rs10007569</li>									rs10007569	2
Q8TBZ9	219557		<li>D->H at 48: in dbSNP:rs2373396</li><li>I->V at 126: in dbSNP:rs2293583</li><li>C->S at 186: in dbSNP:rs34276371</li><li>E->A at 221: in dbSNP:rs2373398</li><li>E->K at 221: in dbSNP:rs2373397</li>									<li>rs2373398</li><li>rs34276371</li><li>rs2373396</li><li>rs2373397</li><li>rs2293583</li>	2
Q8TC05	56890		<li>T->I at 103: in dbSNP:rs962976</li><li>V->I at 383: in dbSNP:rs17224810</li><li>R->H at 489: in dbSNP:rs2306393</li><li>P->L at 552: in dbSNP:rs2306392</li>									<li>rs17224810</li><li>rs2306392</li><li>rs2306393</li><li>rs962976</li>	2
Q8TC20	285782		<li>T->I at 169: in dbSNP:rs10223538</li><li>E->A at 282: in dbSNP:rs2876098</li>									<li>rs2876098</li><li>rs10223538</li>	2
Q8TC21	169270		<li>T->K at 130: in dbSNP:rs2074718</li><li>V->G at 470: in dbSNP:rs2072174</li>									<li>rs2074718</li><li>rs2072174</li>	2
Q8TC27	203102		<li>Q->R at 98: in dbSNP:rs17856744</li><li>S->G at 160: in dbSNP:rs17852343</li><li>L->V at 327: in dbSNP:rs9643859</li><li>S->T at 467: in dbSNP:rs7845771</li><li>K->N at 658: in dbSNP:rs13277386</li>									<li>rs13277386</li><li>rs7845771</li><li>rs17856744</li><li>rs17852343</li><li>rs9643859</li>	2
Q8TC36	140732		<li>E->K at 16: in dbSNP:rs3746387</li><li>E->D at 39: in dbSNP:rs1133358</li><li>I->V at 120: in dbSNP:rs35216976</li><li>A->T at 174: in dbSNP:rs17123951</li>									<li>rs17123951</li><li>rs1133358</li><li>rs35216976</li><li>rs3746387</li>	2
Q8TC41	154214		<li>V->I at 89: in dbSNP:rs475076</li>									rs475076	2
Q8TC56	153745		<li>A->V at 543: in dbSNP:rs17852327</li><li>M->T at 564: in dbSNP:rs31208</li><li>V->I at 599: in dbSNP:rs2115480</li>									<li>rs17852327</li><li>rs2115480</li><li>rs31208</li>	2
Q8TC57	130951		<li>R->Q at 5: in dbSNP:rs3025980</li><li>T->P at 195: in dbSNP:rs7602159</li>									<li>rs3025980</li><li>rs7602159</li>	2
Q8TC71	132671		<li>S->P at 227: in dbSNP:rs3860707</li><li>K->R at 483: in dbSNP:rs11558773</li>									<li>rs3860707</li><li>rs11558773</li>	2
Q8TC76	90362		<li>A->S at 214: in a colorectal cancer sample; somatic mutation</li>										2
Q8TC84	92565		<li>P->L at 12: in dbSNP:rs17153879</li><li>R->S at 46: in dbSNP:rs17153882</li><li>L->V at 329: in dbSNP:rs1666</li><li>C->F at 343: in dbSNP:rs17153976</li>									<li>rs17153879</li><li>rs17153976</li><li>rs17153882</li><li>rs1666</li>	2
Q8TC90	196477		<li>I->M at 379: in dbSNP:rs17855513</li>									rs17855513	2
Q8TC92	55068		<li>E->D at 16: in dbSNP:rs7338624</li>									rs7338624	2
Q8TC94	284382		<li>S->F at 37: in dbSNP:rs2340550</li><li>A->D at 42: in a colorectal cancer sample; somatic mutation</li><li>V->A at 51: in dbSNP:rs10410943</li><li>H->N at 227: in dbSNP:rs4804079</li><li>A->T at 332: in a colorectal cancer sample; somatic mutation</li>									<li>rs2340550</li><li>rs4804079</li><li>rs10410943</li>	2
Q8TC99	54752		<li>S->P at 36: in dbSNP:rs1871892</li><li>A->T at 127: in dbSNP:rs12952106</li>									<li>rs12952106</li><li>rs1871892</li>	2
Q8TCB6	143503		<li>S->N at 10: in dbSNP:rs17224476</li>									rs17224476	2
Q8TCC3	51263		<li>A->T at 130: in dbSNP:rs1044575</li>									rs1044575	2
Q8TCC7	9376		<li>F->L at 129: in dbSNP:rs11568479</li><li>R->S at 149: complete loss of function; dbSNP:rs45566039</li><li>I->R at 260: complete loss of function; dbSNP:rs11568493</li><li>R->W at 277: reduced function; dbSNP:rs11568492</li><li>V->A at 281: in 6% of African-Americans; dbSNP:rs45438191</li><li>I->F at 305: in 3.5% of Asian-American; reduced function; dbSNP:rs11568482</li><li>A->V at 389</li><li>V->I at 448: in dbSNP:rs11568486</li>									<li>rs11568482</li><li>rs11568492</li><li>rs11568486</li><li>rs45566039</li><li>rs45438191</li><li>rs11568479</li><li>rs11568493</li>	2
Q8TCD1	497661		<li>P->H at 37: in dbSNP:rs11537626</li>									rs11537626	2
Q8TCD5	30833		<li>P->L at 68: in dbSNP:rs11541956</li>									rs11541956	2
Q8TCG1	57650		<li>K->R at 126: in dbSNP:rs7648496</li><li>R->Q at 229: in dbSNP:rs2278911</li><li>T->I at 409: in dbSNP:rs9856308</li><li>T->A at 447: in dbSNP:rs34944683</li><li>P->L at 494: in dbSNP:rs13083928</li><li>S->A at 572: in dbSNP:rs34172460</li><li>R->T at 680: in dbSNP:rs6777766</li><li>I->V at 759: in dbSNP:rs13071874</li>									<li>rs2278911</li><li>rs6777766</li><li>rs34944683</li><li>rs9856308</li><li>rs34172460</li><li>rs13083928</li><li>rs7648496</li><li>rs13071874</li>	2
Q8TCG2	55300		<li>S->P at 78: in dbSNP:rs313549</li>									rs313549	2
Q8TCI5	128344		<li>K->N at 97: in dbSNP:rs15396</li><li>H->N at 105: in dbSNP:rs2184884</li>									<li>rs2184884</li><li>rs15396</li>	2
Q8TCS8	87178		<li>I->V at 121: in dbSNP:rs782572</li><li>E->Q at 230: in dbSNP:rs34928857</li><li>N->D at 590: in dbSNP:rs7594497</li>									<li>rs782572</li><li>rs34928857</li><li>rs7594497</li>	2
Q8TCT0	64781		<li>I->V at 191: in dbSNP:rs16995615</li><li>T->M at 211: in dbSNP:rs9306515</li><li>L->F at 306: in dbSNP:rs13057352</li>									<li>rs9306515</li><li>rs16995615</li><li>rs13057352</li>	2
Q8TCU3	157724		<li>V->M at 249: in dbSNP:rs2976189</li><li>R->K at 380: in dbSNP:rs4419794</li><li>M->T at 452: in dbSNP:rs9656982</li><li>E->K at 470: in dbSNP:rs9693999</li>									<li>rs2976189</li><li>rs9693999</li><li>rs9656982</li><li>rs4419794</li>	2
Q8TCU4	7840		<li>V->G at 671: in dbSNP:rs2037814</li><li>S->R at 2111: in dbSNP:rs6724782</li><li>S->N at 2574: in dbSNP:rs3820700</li><li>D->H at 2672: in dbSNP:rs2017116</li>									<li>rs6724782</li><li>rs2037814</li><li>rs2017116</li><li>rs3820700</li>	2
Q8TCU5	116443		<li>V->M at 362: in dbSNP:rs10989591</li><li>R->H at 480: in dbSNP:rs34755188</li><li>G->R at 487: in dbSNP:rs10989589</li><li>D->N at 835: in dbSNP:rs10989563</li><li>R->Q at 1041: in dbSNP:rs3739722</li>									<li>rs10989563</li><li>rs10989589</li><li>rs34755188</li><li>rs10989591</li><li>rs3739722</li>	2
Q8TCU6	57580		<li>V->I at 1240: in dbSNP:rs16993997</li><li>K->E at 1340: in dbSNP:rs2664521</li><li>S->T at 1559: in dbSNP:rs3936192</li>									<li>rs3936192</li><li>rs2664521</li><li>rs16993997</li>	2
Q8TCU8			<li>R->H at 6: in dbSNP:rs17152884</li>									rs17152884	2
Q8TCW7	131368		<li>I->F at 12: in dbSNP:rs6784362</li><li>N->S at 29: in dbSNP:rs6784389</li><li>T->A at 197: in dbSNP:rs12054046</li>									<li>rs12054046</li><li>rs6784362</li><li>rs6784389</li>	2
Q8TCW9	10887		<li>S->G at 40: in dbSNP:rs7570797</li>									rs7570797	2
Q8TCX1	51626		<li>F->S at 33: in dbSNP:rs2288709</li><li>P->S at 58: in dbSNP:rs17854966</li><li>I->L at 230: in dbSNP:rs11556157</li>									<li>rs11556157</li><li>rs2288709</li><li>rs17854966</li>	2
Q8TCY9	55665		<li>T->A at 697: in dbSNP:rs2232106</li><li>L->F at 756: in dbSNP:rs2232107</li><li>M->L at 779: in dbSNP:rs2232108</li>									<li>rs2232107</li><li>rs2232108</li><li>rs2232106</li>	2
Q8TCZ9	5314		<li>A->V at 17: in ARPKD, MIM: 263200</li><li>R->H at 19: in a colorectal cancer sample; somatic mutation, MIM: 263200</li><li>I->V at 25, MIM: 263200</li><li>T->M at 36: in ARPKD; common mutation: in dbSNP rsrs28939383, MIM: 263200</li><li>I->V at 222: in ARPKD, MIM: 263200</li><li>G->S at 223: in ARPKD, MIM: 263200</li><li>F->L at 253: in ARPKD, MIM: 263200</li><li>I->T at 307: in ARPKD, MIM: 263200</li><li>G->V at 326: in ARPKD, MIM: 263200</li><li>F->L at 372: in ARPKD, MIM: 263200</li><li>Missing  at 387: in ARPKD, MIM: 263200</li><li>E->D at 457, MIM: 263200</li><li>I->S at 473: in ARPKD, MIM: 263200</li><li>Y->H at 486: in ARPKD, MIM: 263200</li><li>R->P at 488, MIM: 263200</li><li>R->P at 496: in ARPKD, MIM: 263200</li><li>T->M at 579: in dbSNP rsrs45500692, MIM: 263200</li><li>W->C at 656: in ARPKD, MIM: 263200</li><li>D->N at 703: in ARPKD, MIM: 263200</li><li>V->F at 732, MIM: 263200</li><li>P->L at 739: in ARPKD, MIM: 263200</li><li>T->M at 752, MIM: 263200</li><li>I->L at 757: in ARPKD, MIM: 263200</li><li>R->C at 760: in dbSNP:rs9370096, MIM: 263200</li><li>R->H at 760: in ARPKD, MIM: 263200</li><li>R->W at 760: in dbSNP:rs9370096, MIM: 263200</li><li>P->L at 805: in ARPKD, MIM: 263200</li><li>N->S at 830, MIM: 263200</li><li>W->R at 852, MIM: 263200</li><li>T->P at 899: in ARPKD, MIM: 263200</li><li>M->K at 997: in ARPKD, MIM: 263200</li><li>A->E at 1030: in ARPKD, MIM: 263200</li><li>R->C at 1081: in a colorectal cancer sample; somatic mutation, MIM: 263200</li><li>L->R at 1096: in a colorectal cancer sample; somatic mutation, MIM: 263200</li><li>G->S at 1122: in ARPKD, MIM: 263200</li><li>G->S at 1123: in ARPKD, MIM: 263200</li><li>Y->C at 1136: in dbSNP rsrs41273726, MIM: 263200</li><li>A->P at 1150, MIM: 263200</li><li>C->Y at 1204, MIM: 263200</li><li>C->W at 1249: in ARPKD, MIM: 263200</li><li>A->V at 1262: in dbSNP:rs9296669, MIM: 263200</li><li>S->L at 1283, MIM: 263200</li><li>P->T at 1389: in ARPKD, MIM: 263200</li><li>L->R at 1407: in ARPKD, MIM: 263200</li><li>C->Y at 1472: in ARPKD, MIM: 263200</li><li>P->L at 1486: in ARPKD, MIM: 263200</li><li>S->I at 1584: in ARPKD, MIM: 263200</li><li>R->W at 1624: in ARPKD, MIM: 263200</li><li>S->F at 1664: in ARPKD: in dbSNP rsrs28937907, MIM: 263200</li><li>L->F at 1709: in dbSNP rsrs45517932, MIM: 263200</li><li>V->M at 1741: in ARPKD: in dbSNP rsrs28939099, MIM: 263200</li><li>T->I at 1781: in ARPKD, MIM: 263200</li><li>V->L at 1789: in ARPKD, MIM: 263200</li><li>E->K at 1806: in a colorectal cancer sample; somatic mutation, MIM: 263200</li><li>S->L at 1833: in ARPKD, MIM: 263200</li><li>Y->C at 1838: in ARPKD, MIM: 263200</li><li>S->N at 1867: in ARPKD, MIM: 263200</li><li>L->V at 1870: in dbSNP:rs2435322, MIM: 263200</li><li>Q->R at 1917: in ARPKD, MIM: 263200</li><li>D->G at 1942: in ARPKD, MIM: 263200</li><li>G->D at 1971: in ARPKD, MIM: 263200</li><li>E->G at 1995: in ARPKD, MIM: 263200</li><li>I->T at 1998: in ARPKD, MIM: 263200</li><li>V->L at 2032: in ARPKD, MIM: 263200</li><li>L->P at 2134: in ARPKD, MIM: 263200</li><li>I->F at 2303: in ARPKD, MIM: 263200</li><li>I->K at 2331: in ARPKD, MIM: 263200</li><li>C->G at 2422: in ARPKD, MIM: 263200</li><li>A->G at 2615, MIM: 263200</li><li>T->A at 2641: in ARPKD; dbSNP:rs7766366, MIM: 263200</li><li>C->F at 2688: in ARPKD, MIM: 263200</li><li>D->Y at 2761: in ARPKD, MIM: 263200</li><li>L->P at 2772: in ARPKD, MIM: 263200</li><li>S->G at 2861: in ARPKD, MIM: 263200</li><li>Y->C at 2863: in ARPKD, MIM: 263200</li><li>T->K at 2869, MIM: 263200</li><li>T->M at 2938, MIM: 263200</li><li>I->T at 2957: in ARPKD, MIM: 263200</li><li>D->G at 2962: in ARPKD, MIM: 263200</li><li>S->L at 2983: in ARPKD, MIM: 263200</li><li>S->F at 3018: in ARPKD, MIM: 263200</li><li>V->G at 3036: in ARPKD, MIM: 263200</li><li>D->Y at 3052: in dbSNP:rs765526, MIM: 263200</li><li>A->V at 3072, MIM: 263200</li><li>I->V at 3081: in ARPKD, MIM: 263200</li><li>D->N at 3088, MIM: 263200</li><li>R->P at 3107, MIM: 263200</li><li>H->Y at 3124: in ARPKD, MIM: 263200</li><li>D->Y at 3139: in dbSNP rsrs45503297, MIM: 263200</li><li>R->I at 3143, MIM: 263200</li><li>I->L at 3167: in ARPKD, MIM: 263200</li><li>N->D at 3175: in ARPKD, MIM: 263200</li><li>N->S at 3175: in ARPKD, MIM: 263200</li><li>I->T at 3177: in ARPKD, MIM: 263200</li><li>S->I at 3289, MIM: 263200</li><li>D->V at 3293: in ARPKD, MIM: 263200</li><li>C->R at 3346: in ARPKD, MIM: 263200</li><li>V->D at 3440, MIM: 263200</li><li>I->V at 3468: in ARPKD, MIM: 263200</li><li>V->G at 3471: in ARPKD, MIM: 263200</li><li>R->C at 3482: in ARPKD, MIM: 263200</li><li>E->V at 3502: in ARPKD, MIM: 263200</li><li>S->R at 3505, MIM: 263200</li><li>E->Q at 3529: in ARPKD, MIM: 263200</li><li>E->K at 3551, MIM: 263200</li><li>I->T at 3553: in ARPKD, MIM: 263200</li><li>C->Y at 3622: in ARPKD, MIM: 263200</li><li>P->S at 3783: in ARPKD, MIM: 263200</li><li>V->I at 3837: in dbSNP:rs9474034, MIM: 263200</li><li>R->L at 3842, MIM: 263200</li><li>Q->R at 3899: in dbSNP:rs4715227, MIM: 263200</li><li>I->N at 3905: in dbSNP:rs2661488, MIM: 263200</li><li>R->H at 3913: in dbSNP:rs2661487, MIM: 263200</li><li>V->I at 3960: in dbSNP rsrs34548196, MIM: 263200</li><li>Q->R at 4048: in dbSNP:rs9381994, MIM: 263200</li>								Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	<li>rs28937907</li><li>rs765526</li><li>rs28939383</li><li>rs2435322</li><li>rs45500692</li><li>rs41273726</li><li>rs34548196</li><li>rs28939099</li><li>rs7766366</li><li>rs4715227</li><li>rs9381994</li><li>rs45503297</li><li>rs2661487</li><li>rs9370096</li><li>rs9474034</li><li>rs2661488</li><li>rs45517932</li><li>rs9296669</li>	2
Q8TD07	135250		<li>R->H at 12: in dbSNP:rs9383583</li><li>Y->N at 82: in dbSNP:rs2151910</li><li>R->H at 128: in dbSNP:rs6925151</li><li>A->T at 141: in dbSNP:rs9383921</li><li>T->I at 142: in dbSNP:rs9371533</li><li>V->L at 237: in dbSNP:rs2342767</li>									<li>rs9371533</li><li>rs2151910</li><li>rs9383583</li><li>rs6925151</li><li>rs2342767</li><li>rs9383921</li>	2
Q8TD10	145282		<li>Q->L at 141: in dbSNP:rs35870036</li>									rs35870036	2
Q8TD17	57541		<li>E->D at 87: in dbSNP:rs3801979</li><li>S->L at 294: in dbSNP:rs2240370</li>									<li>rs2240370</li><li>rs3801979</li>	2
Q8TD26	84181		<li>H->Q at 2161: in dbSNP:rs3817893</li>									rs3817893	2
Q8TD31	54535		<li>R->Q at 102: in dbSNP:rs130075</li><li>R->W at 103: in allele HCR*WWCC; associated with psoriasis; dbSNP:rs130065</li><li>R->W at 109: in allele HCR*WWCC; associated with psoriasis; dbSNP:rs130076</li><li>S->R at 164: in dbSNP:rs130066</li><li>L->Q at 179: in dbSNP rsrs11540822</li><li>E->D at 275: in dbSNP:rs130067</li><li>A->T at 367: in dbSNP:rs2027937</li><li>R->Q at 417: in dbSNP:rs130069</li><li>R->W at 417: in dbSNP:rs130068</li><li>K->R at 546: in dbSNP:rs2073720</li><li>G->C at 575: in allele HCR*WWCC; associated with psoriasis; dbSNP:rs130079</li><li>R->Q at 627: in dbSNP:rs130072</li><li>Q->H at 639: in dbSNP:rs130074</li><li>A->V at 733</li><li>S->C at 776: in allele HCR*WWCC; associated with psoriasis; dbSNP:rs1576</li>							<li>Q8HZ58</li><li>O00421</li><li>Q8HZ59</li><li>Q63185</li><li>Q9BQI3</li><li>Q8HZ57</li><li>P33279</li><li>Q9TSV3</li><li>Q8TD31</li><li>Q8HZ60</li><li>Q9Z2R9</li>		<li>rs2027937</li><li>rs2073720</li><li>rs130072</li><li>rs130066</li><li>rs11540822</li><li>rs130065</li><li>rs130069</li><li>rs130068</li><li>rs130067</li><li>rs130079</li><li>rs130074</li><li>rs130075</li><li>rs1576</li><li>rs130076</li>	2
Q8TD35	198437		<li>G->W at 9: in dbSNP:rs4431000</li>									rs4431000	2
Q8TD46	131450		<li>R->K at 89: in allele 2; dbSNP:rs2171509</li><li>P->T at 121: in allele 2; dbSNP:rs4596117</li><li>Q->H at 177: in allele 2; dbSNP:rs9826308</li><li>E->Q at 312: in dbSNP:rs9865242</li>									<li>rs2171509</li><li>rs4596117</li><li>rs9826308</li><li>rs9865242</li>	2
Q8TD55	80301		<li>P->S at 290: in dbSNP:rs2010875</li>									rs2010875	2
Q8TD57	55567		<li>I->L at 484: in a colorectal cancer sample; somatic mutation</li><li>R->W at 545: in dbSNP:rs16970910</li><li>I->M at 1565: in dbSNP:rs330150</li><li>V->I at 1583: in dbSNP:rs16970832</li><li>S->F at 1608: in a colorectal cancer sample; somatic mutation</li><li>T->M at 1752: in dbSNP:rs13332291</li><li>I->N at 2399: in dbSNP:rs34179606</li><li>I->V at 2804: in dbSNP:rs12929546</li><li>K->T at 2949: in dbSNP:rs33928718</li><li>E->K at 3457: in dbSNP:rs3743695</li><li>L->I at 3639: in dbSNP:rs34771199</li><li>R->C at 3645: in dbSNP:rs12924551</li><li>R->W at 3744: in dbSNP:rs2301620</li>									<li>rs34771199</li><li>rs33928718</li><li>rs13332291</li><li>rs12924551</li><li>rs12929546</li><li>rs2301620</li><li>rs3743695</li><li>rs34179606</li><li>rs16970832</li><li>rs330150</li><li>rs16970910</li>	2
Q8TD84	57453		<li>V->I at 659: in a colorectal cancer sample; somatic mutation</li><li>V->I at 1702: in a colorectal cancer sample; somatic mutation</li>										2
Q8TD86	163688		<li>W->R at 60: in dbSNP:rs28581776</li>									rs28581776	2
Q8TD90	139599		<li>G->C at 291: in dbSNP:rs12688600</li>									rs12688600	2
Q8TD91	139081		<li>L->M at 165: in dbSNP:rs11095910</li><li>A->T at 307: in dbSNP:rs176024</li><li>A->T at 328: in dbSNP:rs176026</li>									<li>rs11095910</li><li>rs176026</li><li>rs176024</li>	2
Q8TD94	136259		<li>A->P at 173: in dbSNP:rs35770036</li>									rs35770036	2
Q8TDB4	84709		<li>A->T at 128: in dbSNP:rs3208941</li>									rs3208941	2
Q8TDB6	151636		<li>K->N at 209: in a breast cancer sample; somatic mutation</li><li>R->K at 425: in dbSNP:rs2332285</li><li>K->M at 668: in dbSNP:rs9868175</li>									<li>rs2332285</li><li>rs9868175</li>	2
Q8TDD1	79039		<li>R->H at 570: in dbSNP:rs35519289</li><li>R->Q at 693: in dbSNP:rs11564</li><li>V->A at 712: in dbSNP:rs10354</li><li>P->L at 821: in dbSNP:rs1048889</li>									<li>rs35519289</li><li>rs1048889</li><li>rs10354</li><li>rs11564</li>	2
Q8TDE3	122665		<li>P->S at 10: in dbSNP:rs12437266</li>									rs12437266	2
Q8TDF5	81832		<li>N->S at 481: in dbSNP:rs922999</li><li>A->G at 487: in dbSNP:rs17086286</li>									<li>rs922999</li><li>rs17086286</li>	2
Q8TDI0	26038		<li>V->M at 45: in a breast cancer sample; somatic mutation</li><li>D->N at 119: in a breast cancer sample; somatic mutation</li><li>R->G at 667: in a breast cancer sample; somatic mutation</li><li>S->I at 1253: in dbSNP:rs6657997</li><li>S->P at 1539: in dbSNP:rs2843493</li>									<li>rs6657997</li><li>rs2843493</li>	2
Q8TDI7	117532		<li>K->R at 123: in dbSNP:rs6050063</li><li>S->C at 573: in dbSNP:rs16987592</li><li>E->Q at 800: in dbSNP:rs6115242</li>									<li>rs6050063</li><li>rs16987592</li><li>rs6115242</li>	2
Q8TDI8	117531		<li>E->K at 81: in dbSNP:rs1796993</li><li>R->W at 141: in dbSNP:rs11143384</li><li>M->T at 486: in dbSNP:rs17058153</li><li>D->N at 572: in DFNA36, MIM: 606705</li><li>M->V at 654: in DFNB7, MIM: 600974</li>								<li>Non-syndromic sensorineural deafness autosomal dominant type 36 (DFNA36) [MIM:606705]</li><li>Non-syndromic sensorineural deafness autosomal recessive type 7 (DFNB7) [MIM:600974]</li>	<li>rs11143384</li><li>rs17058153</li><li>rs1796993</li>	2
Q8TDL5	92747		<li>I->V at 84: in dbSNP:rs1078761</li><li>T->A at 140: in dbSNP:rs34578060</li><li>V->M at 284: in dbSNP:rs6141383</li><li>D->H at 287: in dbSNP:rs34548457</li><li>S->P at 298: in dbSNP:rs6120221</li><li>S->I at 313: in dbSNP:rs6120222</li><li>T->S at 464: in dbSNP:rs17856249</li><li>S->T at 479: in dbSNP:rs1999663</li>									<li>rs34578060</li><li>rs1078761</li><li>rs6120222</li><li>rs6120221</li><li>rs1999663</li><li>rs6141383</li><li>rs34548457</li><li>rs17856249</li>	2
Q8TDM0	55653		<li>E->D at 56: in dbSNP:rs2272962</li>									rs2272962	2
Q8TDM6	9231		<li>Q->R at 140: in dbSNP:rs1248696</li><li>P->Q at 1481: in dbSNP:rs2289310</li><li>A->V at 1600: in dbSNP:rs4979794</li>									<li>rs4979794</li><li>rs1248696</li><li>rs2289310</li>	2
Q8TDN1	93107		<li>G->W at 8: in dbSNP:rs35379218</li><li>R->W at 206: in dbSNP:rs11646443</li><li>C->Y at 255: in dbSNP:rs17736370</li><li>E->K at 321: in dbSNP:rs4782905</li><li>G->R at 325: in dbSNP:rs7196482</li><li>R->H at 427: in dbSNP:rs35649980</li>									<li>rs35649980</li><li>rs4782905</li><li>rs35379218</li><li>rs7196482</li><li>rs11646443</li><li>rs17736370</li>	2
Q8TDN2	169522		<li>L->Q at 126: in RCD3B, MIM: 610356</li><li>W->C at 188: in RCD3B, MIM: 610356</li><li>S->W at 256: in RCD3B, MIM: 610356</li><li>A->V at 259: in RCD3B, MIM: 610356</li><li>Missing  at 339-341: in RCD3B, MIM: 610356</li><li>G->D at 459: in RCD3B, MIM: 610356</li><li>L->V at 533: in dbSNP:rs12352254, MIM: 610356</li>								Cone dystrophy retinal type 3B (RCD3B) [MIM:610356]	rs12352254	2
Q8TDP1	84153		<li>R->W at 69: in AGS3, MIM: 610329</li><li>K->I at 143: in AGS3, MIM: 610329</li>							<li>Q8TDP1</li><li>Q86YR5</li>	Aicardi-Goutieres syndrome type 3 (AGS3) [MIM:610329]		2
Q8TDQ0	84868		<li>L->R at 140: in dbSNP:rs1036199</li>									rs1036199	2
Q8TDQ7	132789		<li>P->S at 182: in dbSNP:rs17851302</li>									rs17851302	2
Q8TDR0	26146		<li>N->S at 228: in dbSNP:rs3769110</li><li>R->W at 239: in dbSNP:rs34723381</li><li>K->N at 295: in dbSNP:rs12464423</li><li>M->L at 620: in dbSNP:rs3739070</li>									<li>rs12464423</li><li>rs34723381</li><li>rs3739070</li><li>rs3769110</li>	2
Q8TDR4	140290		<li>H->R at 145: in dbSNP:rs9622</li><li>R->H at 194: in dbSNP:rs16989521</li>									<li>rs9622</li><li>rs16989521</li>	2
Q8TDS4	338442		<li>Q->R at 187: in dbSNP:rs676770</li><li>F->L at 198: in dbSNP:rs676823</li><li>R->C at 311: in dbSNP:rs7314976</li><li>M->I at 317: in dbSNP rsrs28682471</li>									<li>rs676823</li><li>rs676770</li><li>rs28682471</li><li>rs7314976</li>	2
Q8TDS5	165140		<li>M->L at 316: in dbSNP:rs17029947</li><li>L->V at 407: in dbSNP:rs2278586</li>									<li>rs2278586</li><li>rs17029947</li>	2
Q8TDU9	339403		<li>L->S at 329: in dbSNP:rs2152051</li>									rs2152051	2
Q8TDV0	134391		<li>P->L at 40: in dbSNP:rs17104742</li><li>A->V at 144: in dbSNP:rs7713676</li><li>L->V at 261: in dbSNP:rs7709485</li>									<li>rs17104742</li><li>rs7709485</li><li>rs7713676</li>	2
Q8TDV2	344561		<li>P->T at 317: in dbSNP:rs272128</li>									rs272128	2
Q8TDV5	139760		<li>S->L at 309: in dbSNP:rs5975187</li>									rs5975187	2
Q8TDW0	84230		<li>G->D at 205: in dbSNP:rs474536</li><li>N->S at 468: in dbSNP:rs12032393</li><li>M->I at 800: in dbSNP:rs12036569</li>									<li>rs12032393</li><li>rs12036569</li><li>rs474536</li>	2
Q8TDW4	54879		<li>R->Q at 451: in dbSNP:rs6658555</li><li>A->T at 455: in dbSNP:rs3736764</li><li>G->D at 571: in dbSNP:rs12069022</li>									<li>rs3736764</li><li>rs6658555</li><li>rs12069022</li>	2
Q8TDW5	94122		<li>I->V at 275: in dbSNP:rs4827331</li>									rs4827331	2
Q8TDW7	120114		<li>S->F at 412: in dbSNP:rs10830902</li><li>I->V at 462: in dbSNP:rs16917409</li><li>V->G at 1167: in dbSNP:rs11821058</li><li>Q->R at 1726: in dbSNP:rs7949157</li><li>N->S at 2293: in dbSNP:rs16918105</li><li>V->F at 2622: in dbSNP:rs17615477</li><li>I->V at 2755: in dbSNP:rs3847531</li><li>V->L at 3518: in dbSNP:rs10765565</li><li>S->G at 3812: in dbSNP:rs4753069</li>									<li>rs10765565</li><li>rs4753069</li><li>rs11821058</li><li>rs17615477</li><li>rs3847531</li><li>rs10830902</li><li>rs16917409</li><li>rs7949157</li><li>rs16918105</li>	2
Q8TDX7	140609		<li>R->G at 35: in dbSNP rsrs55833332</li><li>I->M at 275: in an ovarian serous carcinoma sample; somatic mutation</li>									rs55833332	2
Q8TDX9	168507		<li>V->F at 312: in dbSNP:rs2686817</li><li>D->N at 812: in dbSNP:rs17131915</li><li>T->A at 879: in dbSNP:rs11972142</li><li>R->P at 1053: in dbSNP:rs10274334</li><li>K->E at 1272: in dbSNP:rs1470859</li><li>E->K at 2410: in dbSNP:rs2290386</li><li>A->T at 2685: in dbSNP:rs13231277</li>									<li>rs11972142</li><li>rs10274334</li><li>rs13231277</li><li>rs2290386</li><li>rs17131915</li><li>rs2686817</li><li>rs1470859</li>	2
Q8TDY2	9821		<li>M->T at 234: in dbSNP:rs17337252</li><li>P->L at 708: in dbSNP:rs34016926</li><li>R->K at 1216: in dbSNP:rs35534432</li><li>N->K at 1314: in dbSNP:rs34701924</li><li>S->F at 1424: in dbSNP:rs35342973</li><li>R->C at 1514: in a breast cancer sample; somatic mutation</li>									<li>rs35534432</li><li>rs34701924</li><li>rs35342973</li><li>rs34016926</li><li>rs17337252</li>	2
Q8TDY3	140625		<li>G->R at 247: in dbSNP:rs3795263</li>									rs3795263	2
Q8TDY4	55616		<li>E->A at 377: in dbSNP:rs16828486</li><li>A->T at 617: in a colorectal cancer sample; somatic mutation</li>									rs16828486	2
Q8TDY8	57722		<li>A->P at 52: in dbSNP:rs34355056</li><li>N->S at 301: in dbSNP:rs12442757</li><li>T->A at 1102: in dbSNP:rs33918653</li><li>C->Y at 1125: in dbSNP:rs33918653</li>									<li>rs33918653</li><li>rs34355056</li><li>rs12442757</li>	2
Q8TDZ2	64780		<li>A->T at 12: in dbSNP:rs4946977</li><li>D->A at 153: in dbSNP:rs34726911</li><li>L->M at 309: in a breast cancer sample; somatic mutation</li><li>A->E at 758: in dbSNP:rs9320288</li>									<li>rs9320288</li><li>rs34726911</li><li>rs4946977</li>	2
Q8TE02	23587		<li>E->K at 14: in dbSNP:rs2521988</li><li>D->Y at 303: in dbSNP:rs17849664</li>									<li>rs2521988</li><li>rs17849664</li>	2
Q8TE23	80834		<li>S->C at 9: in dbSNP:rs9701796</li><li>A->T at 574: in dbSNP:rs6662276</li><li>R->K at 838: in dbSNP:rs9988418</li>									<li>rs6662276</li><li>rs9701796</li><li>rs9988418</li>	2
Q8TE54	115111		<li>I->V at 215: in dbSNP:rs16912250</li><li>V->G at 381: in dbSNP:rs34921316</li>									<li>rs16912250</li><li>rs34921316</li>	2
Q8TE58	170689		<li>N->S at 623: in dbSNP:rs11222114</li><li>Q->R at 770: in a colorectal cancer sample; somatic mutation</li><li>C->G at 878: in a colorectal cancer sample; somatic mutation</li>									rs11222114	2
Q8TE59	171019		<li>L->I at 360: in a breast cancer sample; somatic mutation</li><li>Y->F at 1089: in dbSNP:rs11749126</li>									rs11749126	2
Q8TE60	170692		<li>R->K at 382: in a colorectal cancer sample; somatic mutation</li><li>K->T at 455: in a colorectal cancer sample; somatic mutation</li>										2
Q8TE67	79574		<li>M->I at 35: in dbSNP:rs17598321</li><li>G->S at 163: in dbSNP:rs6693815</li><li>H->Y at 293: in dbSNP:rs3818562</li><li>P->S at 356: in dbSNP:rs11102001</li><li>R->Q at 581: in dbSNP:rs35072794</li>									<li>rs3818562</li><li>rs11102001</li><li>rs17598321</li><li>rs35072794</li><li>rs6693815</li>	2
Q8TE73	1767		<li>H->Q at 12: in dbSNP:rs339445</li><li>G->E at 24: in dbSNP:rs1530496</li><li>T->A at 558: in dbSNP:rs1530498</li><li>L->R at 591: in dbSNP:rs35090077</li><li>L->V at 591: in dbSNP:rs35090077</li><li>Q->K at 620: in dbSNP:rs34076967</li><li>K->N at 765: in dbSNP:rs4701997</li><li>I->L at 766: in dbSNP:rs4701997</li><li>S->G at 1006: in dbSNP:rs16902886</li><li>M->V at 1081: in dbSNP:rs16902880</li><li>R->L at 1716: in CILD3, MIM: 608644</li><li>S->N at 2264: in CILD3, MIM: 608644</li><li>E->K at 2347: in CILD3, MIM: 608644</li><li>R->H at 2425: in dbSNP:rs35900306, MIM: 608644</li><li>Q->R at 2463: in dbSNP:rs10078391, MIM: 608644</li><li>R->P at 2501: in CILD3, MIM: 608644</li><li>F->S at 2843: in CILD3, MIM: 608644</li><li>L->F at 2862: in dbSNP:rs10513155, MIM: 608644</li><li>W->S at 3409: in CILD3, MIM: 608644</li><li>G->R at 3519: in KTGS, MIM: 244400</li><li>T->I at 3791: in dbSNP:rs17263496, MIM: 244400</li><li>S->L at 3843: in CILD3, MIM: 608644</li><li>A->V at 4134: in dbSNP:rs30168, MIM: 608644</li><li>G->V at 4205: in CILD3, MIM: 608644</li><li>T->A at 4220: in dbSNP:rs2277046, MIM: 608644</li><li>I->V at 4450: in dbSNP:rs3734110, MIM: 608644</li>								<li>Kartagener syndrome (KTGS) [MIM:244400]</li><li>Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]</li>	<li>rs3734110</li><li>rs4701997</li><li>rs34076967</li><li>rs1530498</li><li>rs17263496</li><li>rs10078391</li><li>rs1530496</li><li>rs35900306</li><li>rs35090077</li><li>rs339445</li><li>rs30168</li><li>rs2277046</li><li>rs16902886</li><li>rs10513155</li><li>rs16902880</li>	2
Q8TE76	79710		<li>T->I at 473: in dbSNP:rs6622126</li><li>R->C at 653: in dbSNP:rs3827464</li>									<li>rs6622126</li><li>rs3827464</li>	2
Q8TE82	54436		<li>D->N at 291: in dbSNP:rs1281138</li><li>P->L at 437: in dbSNP:rs1281145</li><li>R->H at 719: in a colorectal cancer sample; somatic mutation</li><li>R->C at 785: in dbSNP:rs1281149</li><li>A->T at 1130: in a colorectal cancer sample; somatic mutation</li>									<li>rs1281149</li><li>rs1281138</li><li>rs1281145</li>	2
Q8TE85	57822		<li>D->E at 55: in dbSNP:rs2486668</li>									rs2486668	2
Q8TEA7	93627		<li>R->L at 66: in dbSNP rsrs35784409</li><li>I->M at 151</li><li>D->N at 265</li><li>Q->E at 266: in dbSNP:rs3775091</li><li>T->M at 425</li><li>M->I at 471</li><li>K->N at 489: in dbSNP:rs2305685</li><li>R->I at 503: in a colorectal adenocarcinoma sample; somatic mutation</li><li>R->C at 692</li><li>I->V at 806: in a head & Neck squamous cell carcinoma sample; somatic mutation</li>									<li>rs35784409</li><li>rs3775091</li><li>rs2305685</li>	2
Q8TEB1	80344		<li>R->H at 207: in dbSNP:rs3825584</li>									rs3825584	2
Q8TEB9	84236		<li>A->T at 110: in dbSNP:rs35731955</li>									rs35731955	2
Q8TEC5	153769		<li>F->S at 16: in dbSNP:rs34739859</li><li>F->V at 174: in dbSNP:rs34942619</li><li>C->R at 267: in dbSNP:rs758037</li><li>R->Q at 477: in dbSNP:rs35165046</li><li>R->W at 592: in dbSNP:rs2962525</li><li>V->I at 687: in dbSNP:rs11435</li><li>A->G at 710: in dbSNP:rs1056149</li>									<li>rs35165046</li><li>rs758037</li><li>rs1056149</li><li>rs11435</li><li>rs34942619</li><li>rs2962525</li><li>rs34739859</li>	2
Q8TED4	219855		<li>G->S at 268: in dbSNP:rs34485243</li>									rs34485243	2
Q8TEE6			<li>R->C at 68: in dbSNP:rs12574381</li><li>K->N at 606: in dbSNP:rs16915277</li><li>F->L at 755: in dbSNP:rs11825154</li>									<li>rs11825154</li><li>rs12574381</li><li>rs16915277</li>	2
Q8TEM1	23225		<li>A->T at 297: in dbSNP:rs7628051</li><li>I->V at 608: in dbSNP:rs3732671</li><li>A->V at 755: in dbSNP:rs6795271</li><li>R->L at 786: in dbSNP:rs2280084</li><li>P->A at 821: in dbSNP:rs2280085</li><li>A->P at 944: in dbSNP:rs433032</li><li>M->I at 1096: in dbSNP:rs2271505</li><li>D->E at 1430: in dbSNP:rs13081937</li><li>L->S at 1752: in dbSNP:rs354479</li><li>V->M at 1787: in dbSNP:rs354478</li>									<li>rs13081937</li><li>rs7628051</li><li>rs433032</li><li>rs3732671</li><li>rs2271505</li><li>rs6795271</li><li>rs2280084</li><li>rs354479</li><li>rs2280085</li><li>rs354478</li>	2
Q8TEP8	55125		<li>T->A at 457: in dbSNP:rs10048340</li><li>Q->P at 513: in dbSNP:rs11080623</li><li>V->M at 769: in dbSNP:rs2282542</li><li>R->H at 948: in dbSNP:rs7228940</li><li>S->P at 956: in dbSNP:rs578208</li><li>L->F at 1105: in dbSNP:rs6505780</li><li>S->N at 1455: in dbSNP:rs2027698</li><li>L->P at 1525: in dbSNP:rs474337</li><li>K->E at 1675: in dbSNP:rs3737379</li><li>R->L at 1853: in dbSNP:rs1786263</li>									<li>rs3737379</li><li>rs474337</li><li>rs578208</li><li>rs7228940</li><li>rs2282542</li><li>rs11080623</li><li>rs10048340</li><li>rs1786263</li><li>rs2027698</li><li>rs6505780</li>	2
Q8TEQ6	25929		<li>Q->R at 682: in dbSNP:rs1974777</li>									rs1974777	2
Q8TEQ8	84720		<li>L->M at 686: in a colorectal cancer sample; somatic mutation</li>										2
Q8TER0	25992		<li>L->P at 1228: in dbSNP:rs17440466</li><li>R->Q at 1289: in dbSNP:rs6721345</li><li>H->R at 1299: in dbSNP:rs6708120</li><li>A->S at 1362: in dbSNP:rs2108485</li>									<li>rs6721345</li><li>rs17440466</li><li>rs6708120</li><li>rs2108485</li>	2
Q8TER5	55701		<li>L->V at 956: in dbSNP:rs7143633</li><li>S->L at 1189: in dbSNP:rs1958396</li><li>M->T at 1312: in dbSNP:rs943992</li>									<li>rs943992</li><li>rs1958396</li><li>rs7143633</li>	2
Q8TES7			<li>G->V at 65: in dbSNP:rs1135889</li><li>R->G at 151: in dbSNP:rs2305913</li><li>P->S at 371: in dbSNP:rs7218738</li><li>C->S at 574: in dbSNP:rs7213548</li>									<li>rs7213548</li><li>rs7218738</li><li>rs2305913</li><li>rs1135889</li>	2
Q8TET4	2595		<li>V->L at 11: in dbSNP:rs8043515</li><li>R->Q at 44: in dbSNP:rs8024732</li><li>I->M at 153</li><li>D->E at 443: in dbSNP:rs2578652</li><li>F->S at 845: in dbSNP:rs7181742</li><li>Q->R at 848: in dbSNP:rs7180279</li>									<li>rs8043515</li><li>rs7181742</li><li>rs8024732</li><li>rs2578652</li><li>rs7180279</li>	2
Q8TEU8	124857		<li>V->M at 96: in dbSNP:rs35300894</li>									rs35300894	2
Q8TEV9	140775		<li>P->L at 524: in dbSNP:rs8080966</li><li>R->H at 556: in dbSNP:rs1563632</li><li>N->S at 636: in dbSNP:rs12449313</li>									<li>rs12449313</li><li>rs8080966</li><li>rs1563632</li>	2
Q8TEW8	117583		<li>L->P at 165: in dbSNP:rs1510765</li><li>R->K at 192: in dbSNP:rs2289025</li><li>Q->K at 295: in dbSNP:rs1061522</li>									<li>rs1061522</li><li>rs2289025</li><li>rs1510765</li>	2
Q8TEX9	79711		<li>A->V at 513: in dbSNP:rs7146310</li><li>P->A at 580: in dbSNP:rs11550452</li>									<li>rs11550452</li><li>rs7146310</li>	2
Q8TF05	9989		<li>E->K at 43: in dbSNP:rs1056191</li><li>I->V at 470: in dbSNP:rs329003</li><li>S->N at 593: in dbSNP:rs2306134</li><li>S->N at 595: in dbSNP:rs2306134</li>									<li>rs2306134</li><li>rs329003</li><li>rs1056191</li>	2
Q8TF08	170712		<li>H->Q at 27</li>										2
Q8TF09	83657		<li>H->R at 14: in dbSNP:rs13332289</li>									rs13332289	2
Q8TF17	79628		<li>G->E at 171: in dbSNP:rs17722293</li><li>A->S at 468: in dbSNP:rs6875902</li><li>R->Q at 529: in CMT4C; homozygous in 2 unrelated Turkish patients; also found in 1 of 320 Turkish control chromosomes, MIM: 601596</li><li>E->K at 657: in CMT4C; homozygous in a Turkish patient, MIM: 601596</li><li>R->C at 658: in CMT4C; heterozygous in one German patient with affected sibling, MIM: 601596</li><li>H->R at 696: in dbSNP:rs17109261, MIM: 601596</li>					chromosomes	GO:0005694		Charcot-Marie-Tooth disease type 4C (CMT4C) [MIM:601596]	<li>rs6875902</li><li>rs17722293</li><li>rs17109261</li>	2
Q8TF21	170961		<li>A->T at 111: in dbSNP:rs2052191</li><li>R->Q at 349: in dbSNP:rs12978469</li><li>E->K at 585: in dbSNP:rs10413818</li><li>S->A at 684: in dbSNP:rs353693</li>									<li>rs10413818</li><li>rs12978469</li><li>rs353693</li><li>rs2052191</li>	2
Q8TF27	119385		<li>I->V at 82: in dbSNP:rs2641563</li>									rs2641563	2
Q8TF32	170959		<li>D->G at 3: in dbSNP:rs17445374</li>									rs17445374	2
Q8TF40	96459		<li>C->G at 76: in dbSNP:rs7730228</li><li>S->L at 354: in dbSNP:rs13177318</li><li>Q->R at 648: in dbSNP:rs26008</li><li>V->L at 738: in dbSNP:rs12109782</li><li>I->V at 844: in dbSNP:rs7717874</li>									<li>rs26008</li><li>rs13177318</li><li>rs7730228</li><li>rs7717874</li><li>rs12109782</li>	2
Q8TF42	84959		<li>A->T at 68: in dbSNP:rs12790613</li>									rs12790613	2
Q8TF46	115752		<li>I->V at 518: in dbSNP:rs34668776</li><li>D->G at 614: in dbSNP:rs3803412</li><li>N->S at 747: in dbSNP:rs17258507</li>									<li>rs34668776</li><li>rs3803412</li><li>rs17258507</li>	2
Q8TF50	116115		<li>V->A at 94: in dbSNP:rs3810151</li><li>S->F at 511: in dbSNP:rs17850994</li>									<li>rs3810151</li><li>rs17850994</li>	2
Q8TF62	79895		<li>N->S at 225: in dbSNP:rs16963151</li><li>H->N at 452: in dbSNP:rs2452524</li><li>N->K at 1165: in dbSNP:rs16962989</li><li>V->G at 1190: in dbSNP:rs16962987</li>									<li>rs16962989</li><li>rs16963151</li><li>rs16962987</li><li>rs2452524</li>	2
Q8TF63	140947		<li>T->P at 75: in dbSNP:rs1031844</li><li>N->D at 97: in dbSNP:rs12520809</li>									<li>rs12520809</li><li>rs1031844</li>	2
Q8TF65	54810		<li>S->F at 61: in dbSNP:rs17101180</li><li>L->P at 206: in dbSNP:rs540742</li>									<li>rs17101180</li><li>rs540742</li>	2
Q8TF66	131578		<li>I->V at 264: in dbSNP:rs13060627</li><li>L->P at 286: in dbSNP:rs13070515</li>									<li>rs13060627</li><li>rs13070515</li>	2
Q8TF71	117247		<li>K->Q at 508: in dbSNP:rs17072442</li>									rs17072442	2
Q8TF72	57619		<li>L->H at 146: in dbSNP:rs3821979</li><li>A->G at 278: in dbSNP:rs344140</li><li>A->P at 468: in dbSNP:rs344141</li><li>L->P at 1289: in dbSNP:rs3733242</li>									<li>rs344140</li><li>rs344141</li><li>rs3733242</li><li>rs3821979</li>	2
Q8TF76			<li>V->E at 76</li><li>C->R at 82</li><li>R->H at 145</li><li>D->G at 204: in dbSNP:rs220462</li><li>G->S at 283</li><li>Q->L at 301</li><li>T->I at 328: in dbSNP:rs220461</li><li>A->V at 378: in dbSNP:rs3809806</li><li>N->D at 422: in dbSNP:rs7223226</li><li>M->V at 706</li>									<li>rs220461</li><li>rs220462</li><li>rs7223226</li><li>rs3809806</li>	2
Q8WTQ1	140596		<li>I->V at 10: in dbSNP:rs2680507</li>									rs2680507	2
Q8WTQ4	123970		<li>R->Q at 152: in dbSNP:rs16947350</li>									rs16947350	2
Q8WTQ7	131890		<li>R->H at 81: in dbSNP:rs34429284</li><li>C->W at 113: in dbSNP rsrs56070798</li><li>S->C at 115: in dbSNP rsrs34769632</li><li>S->T at 127: in dbSNP rsrs35318124</li><li>V->G at 196: in dbSNP rsrs55707760</li><li>V->M at 196: in dbSNP rsrs56019094</li><li>R->W at 226: in dbSNP:rs35566288</li><li>S->F at 253: in a metastatic melanoma sample; somatic mutation</li><li>E->Q at 309: in dbSNP rsrs55824414</li><li>V->I at 313: in dbSNP rsrs56076641</li><li>E->G at 443: in dbSNP rsrs36009541</li><li>P->T at 460: in dbSNP:rs33928105</li><li>R->C at 461: in dbSNP:rs36004830</li>									<li>rs35318124</li><li>rs36004830</li><li>rs33928105</li><li>rs55707760</li><li>rs55824414</li><li>rs36009541</li><li>rs34429284</li><li>rs56019094</li><li>rs56076641</li><li>rs34769632</li><li>rs35566288</li><li>rs56070798</li>	2
Q8WTR2	142679		<li>S->R at 216: in dbSNP:rs16823987</li>									rs16823987	2
Q8WTR4	81544		<li>A->T at 480: in dbSNP:rs571353</li>									rs571353	2
Q8WTR7	25888		<li>S->G at 59: in dbSNP:rs10419876</li><li>S->G at 74: in dbSNP:rs10419911</li><li>T->M at 164: in dbSNP:rs16981705</li><li>E->G at 309: in dbSNP:rs16981706</li><li>T->I at 654: in dbSNP:rs10424809</li><li>S->A at 662: in dbSNP:rs10426374</li>									<li>rs10419911</li><li>rs10424809</li><li>rs16981706</li><li>rs10426374</li><li>rs16981705</li><li>rs10419876</li>	2
Q8WTS1	51099		<li>E->K at 7: in CDS, MIM: 275630</li><li>I->T at 72: in dbSNP:rs2302349, MIM: 275630</li><li>Q->P at 130: in CDS; dbSNP:rs28939077, MIM: 275630</li><li>E->K at 260: in CDS: in dbSNP rsrs28939078, MIM: 275630</li>							<li>Q99UL1</li><li>Q92903</li><li>P0ABG3</li><li>Q8G0E0</li><li>P0ABG2</li><li>Q6G9V2</li><li>P0ABG1</li><li>O04928</li><li>Q4L5W3</li><li>Q59640</li><li>P73548</li><li>Q2YRP9</li><li>O67292</li><li>Q9X1B7</li><li>Q7A5Y4</li><li>P75160</li><li>Q49433</li><li>Q5HGH0</li><li>Q9Z7Y6</li><li>O04940</li><li>P0C102</li><li>P63758</li><li>P63759</li><li>O84457</li><li>Q8CST9</li><li>O25004</li><li>Q9ZDA8</li><li>Q7A121</li><li>Q6GHH4</li><li>Q9ZML7</li><li>Q9PJU1</li><li>Q9CBU1</li><li>P38221</li><li>Q49X46</li><li>Q95ZE3</li><li>P56079</li><li>P44937</li><li>Q8YHH2</li><li>O31752</li><li>Q5HPT0</li>	Chanarin-Dorfman syndrome (CDS) [MIM:275630]	<li>rs28939077</li><li>rs2302349</li><li>rs28939078</li>	2
Q8WTT2	64318		<li>P->L at 194: in dbSNP:rs12572897</li><li>P->R at 444: in dbSNP:rs11187895</li><li>E->A at 472: in dbSNP:rs3758526</li><li>R->I at 504: in dbSNP:rs11187892</li><li>T->S at 655: in dbSNP:rs12259382</li><li>A->T at 695: in dbSNP:rs17517578</li>									<li>rs11187892</li><li>rs3758526</li><li>rs12572897</li><li>rs17517578</li><li>rs12259382</li><li>rs11187895</li>	2
Q8WTU0	414301		<li>G->S at 136: in dbSNP:rs7102675</li><li>S->G at 142: in dbSNP:rs17856633</li><li>G->E at 239: in dbSNP:rs17851870</li>									<li>rs17851870</li><li>rs7102675</li><li>rs17856633</li>	2
Q8WTU2	136853		<li>R->H at 128: in dbSNP:rs4728712</li>									rs4728712	2
Q8WTV0	949		<li>G->S at 2: in dbSNP:rs4238001</li><li>V->I at 135: in dbSNP rsrs5891</li><li>G->S at 167</li><li>S->G at 229: in dbSNP:rs10396213</li><li>C->R at 511: in dbSNP:rs2293440</li>									<li>rs5891</li><li>rs4238001</li><li>rs2293440</li><li>rs10396213</li>	2
Q8WTW3	9382		<li>N->S at 392: in dbSNP:rs1026128</li><li>Y->C at 744: in dbSNP:rs7208207</li>									<li>rs1026128</li><li>rs7208207</li>	2
Q8WTX9	29800		<li>R->Q at 124: in dbSNP:rs34229857</li>									rs34229857	2
Q8WU03	219970		<li>P->S at 82: in dbSNP:rs17856514</li><li>E->K at 160: in dbSNP:rs11229651</li><li>L->I at 168: in dbSNP:rs17851433</li>									<li>rs17856514</li><li>rs11229651</li><li>rs17851433</li>	2
Q8WU08	202374		<li>K->M at 58: in dbSNP rsrs35852718</li><li>S->F at 89: in a metastatic melanoma sample; somatic mutation</li><li>M->I at 316: in a lung neuroendocrine carcinoma sample; somatic mutation</li>									rs35852718	2
Q8WU20	10818		<li>K->N at 303: in dbSNP:rs12580717</li><li>N->D at 449: in dbSNP:rs35232109</li>									<li>rs12580717</li><li>rs35232109</li>	2
Q8WU58	55731		<li>L->S at 471: in dbSNP:rs2043031</li><li>G->S at 542: in dbSNP:rs36029715</li>									<li>rs2043031</li><li>rs36029715</li>	2
Q8WU66	54084		<li>A->T at 166: in a colorectal cancer sample; somatic mutation</li>										2
Q8WU67	171586		<li>R->C at 3: in dbSNP:rs17851878</li>									rs17851878	2
Q8WU76	152579		<li>L->S at 512: in dbSNP:rs7675987</li>									rs7675987	2
Q8WU79	64744		<li>A->T at 289: in dbSNP:rs34845213</li>									rs34845213	2
Q8WU90	55854		<li>V->E at 342: in dbSNP:rs11555006</li><li>T->P at 408: in dbSNP:rs1043497</li>									<li>rs1043497</li><li>rs11555006</li>	2
Q8WUA8	25987		<li>R->C at 208: in dbSNP:rs3740772</li><li>S->N at 248: in dbSNP:rs11236938</li><li>V->I at 308: in dbSNP:rs3740771</li><li>D->E at 344: in dbSNP:rs1149621</li>									<li>rs11236938</li><li>rs3740772</li><li>rs3740771</li><li>rs1149621</li>	2
Q8WUB2	29902		<li>R->G at 225: in dbSNP:rs17188964</li>									rs17188964	2
Q8WUD1	84932		<li>N->T at 212: in dbSNP:rs17106411</li>									rs17106411	2
Q8WUD6	56994		<li>F->S at 162: in dbSNP:rs3205421</li><li>Y->S at 323: in MCF-12A cell line</li>									rs3205421	2
Q8WUF8	83989		<li>S->N at 131: in dbSNP:rs17083426</li>									rs17083426	2
Q8WUH2	9392		<li>H->R at 725: in dbSNP:rs2241797</li>									rs2241797	2
Q8WUI4			<li>V->M at 43: in a breast cancer sample; somatic mutation</li>										2
Q8WUJ1	124936		<li>R->G at 7: in a colorectal cancer sample; somatic mutation</li><li>R->P at 7: in a colorectal cancer sample; somatic mutation</li>										2
Q8WUJ3	57214		<li>R->C at 187: in non-syndromic hearing loss; in one family</li><li>R->H at 187: in non-syndromic hearing loss; in two unrelated families</li><li>H->R at 783: in dbSNP:rs12441101</li><li>H->Y at 783: in non-syndromic hearing loss; in one sporadic case</li><li>V->I at 1109</li><li>P->A at 1169: common polymorphism; dbSNP:rs16972583</li>	hearing	GO:0007605							<li>rs16972583</li><li>rs12441101</li>	2
Q8WUM0	55746		<li>T->P at 106: in dbSNP:rs428231</li><li>I->V at 294: in dbSNP:rs11805194</li><li>G->V at 326: in a breast cancer sample; somatic mutation</li><li>Q->R at 406: in dbSNP:rs1065674</li><li>G->R at 448: in a breast cancer sample; somatic mutation</li>									<li>rs1065674</li><li>rs11805194</li><li>rs428231</li>	2
Q8WUM4	10015	<ul><li>F->D at 199: Abolishes interaction with CHMP4B and abolishes rescue of PTAP-type L domain-deficient HIV-1 p6</li><li>I->D at 212: Abolishes interaction with CHMP4A; impairs rescue of PTAP-type L domain-deficient HIV-1 p6; inhibits support of cytokinesis</li><li>L->D at 216: Abolishes interaction with CHMP4B and abolishes rescue of PTAP-type L domain-deficient HIV-1 p6</li><li>F->A at 317: Diminishes rescue of PTAP-type L domain-deficient HIV-1 p6</li><li>I->A at 318: Greatly diminishes rescue of PTAP-type L domain--deficient HIV-1 p6</li><li>Y->A at 319: Greatly diminishes rescue of PTAP-type L domain-deficient HIV-1 p6</li><li>Y->F at 319: No effect on rescue of PTAP-type L domain-deficient HIV-1 p6</li><li>F->D at 495: Impairs rescue of PTAP-type L domain-deficient HIV-1 p6</li><li>V->D at 498: Reduces interaction with HIV-1 p6 and EIAV p9; abolishes rescue of PTAP-type L domain-deficient HIV-1 p6</li><li>V->D at 509: Abolishes interaction with HIV-1 p6; impairs rescue of PTAP-type L domain-deficient HIV-1 p6</li><li>C->A at 512: No effect on interaction with HIV-1 p6; impairs rescue of PTAP-type L domain-deficient HIV-1 p6</li><li>F->D at 676: Abolishes interaction with HIV-1 p6 and EIAV p9; abolishes rescue of PTAP-type L domain-deficient HIV-1 p6; no effect on cytokinesis</li><li>L->D at 680: Impairs rescue of PTAP-type L domain-deficient HIV-1 p6</li><li>I->A at 683: No effect on interaction with HIV-1 p6</li><li>I->D at 683: Reduces interaction with HIV-1 p6 and EIAV p9; abolishes rescue of PTAP-type L domain-deficient HIV-1 p6</li><li>P->L at 720: Abolishes interaction with TSG101; no effect on rescue of PTAP-type L domain-deficient HIV-1 p6</li><li>RP->AA at 757-758: Abolishes interaction with SH3GL1 and SH3GL2; no effect on rescue of PTAP-type L domain-deficient HIV-1 p6</li><li>GPP->AAA at 800-802: Abolishes interaction with CEP55; inhibits support of cytokinesis</li><li>P->A at 801: Diminishes interaction with CEP55</li><li>P->A at 802: Diminishes interaction with CEP55</li><li>Y->A at 806: Abolishes interaction with CEP55</li></ul>	<li>A->T at 309: in dbSNP:rs3792594</li><li>V->I at 378: in dbSNP:rs3203777</li><li>N->S at 550: in dbSNP:rs9813017</li><li>K->E at 638: in dbSNP:rs3183982</li><li>S->L at 730: in dbSNP:rs1127732</li>	cytokinesis	GO:0000910					<li>Q99816</li><li>Q99961</li><li>Q53EZ4</li><li>Q99962</li><li>Q5ZHP5</li><li>Q9BY43</li><li>Q9H444</li>		<li>rs3203777</li><li>rs3183982</li><li>rs1127732</li><li>rs3792594</li><li>rs9813017</li>	3
Q8WUN3			<li>C->R at 167: in dbSNP:rs2979109</li><li>T->P at 189: in dbSNP:rs12678688</li>									<li>rs2979109</li><li>rs12678688</li>	2
Q8WUN7	92181		<li>M->I at 129: in dbSNP:rs17074452</li>									rs17074452	2
Q8WUT4	164312		<li>P->L at 138: in dbSNP:rs6107751</li><li>T->A at 141: in dbSNP:rs1884643</li>									<li>rs6107751</li><li>rs1884643</li>	2
Q8WUT9	203427		<li>P->L at 334: in dbSNP:rs3810755</li>									rs3810755	2
Q8WUU5	57798		<li>G->S at 54: in dbSNP:rs10281879</li>									rs10281879	2
Q8WUX1	92745		<li>M->T at 451: in dbSNP:rs17281188</li>									rs17281188	2
Q8WUX2	494143		<li>R->G at 82: in dbSNP:rs17851583</li>									rs17851583	2
Q8WUY1	51337		<li>E->Q at 93: in dbSNP:rs17851711</li>									rs17851711	2
Q8WUY9	55789		<li>R->M at 332: in dbSNP:rs17856590</li><li>V->L at 395: in dbSNP:rs17851707</li>									<li>rs17856590</li><li>rs17851707</li>	2
Q8WV16	26094		<li>W->C at 22: in dbSNP:rs2302588</li><li>K->T at 193: in dbSNP:rs17856582</li><li>N->S at 266: in dbSNP:rs7155812</li><li>L->F at 334: in dbSNP:rs17856583</li><li>S->C at 345: in dbSNP:rs3815460</li><li>R->I at 439: in dbSNP:rs17856584</li>									<li>rs17856582</li><li>rs17856584</li><li>rs17856583</li><li>rs7155812</li><li>rs2302588</li><li>rs3815460</li>	2
Q8WV19	113402		<li>I->V at 109: in dbSNP:rs11551053</li>									rs11551053	2
Q8WV22	197370		<li>T->R at 38: in dbSNP:rs7195194</li><li>N->S at 47: in dbSNP:rs17856580</li>									<li>rs7195194</li><li>rs17856580</li>	2
Q8WV35	26231		<li>R->Q at 75: in dbSNP:rs3743728</li><li>G->S at 117: in dbSNP:rs34595673</li>									<li>rs34595673</li><li>rs3743728</li>	2
Q8WV37	147657		<li>P->S at 158: in dbSNP:rs13343641</li><li>H->Q at 342: in a colorectal cancer sample; somatic mutation</li>									rs13343641	2
Q8WV44	90933		<li>A->T at 78: in dbSNP:rs6601178</li><li>D->G at 438: in dbSNP:rs2241371</li>									<li>rs2241371</li><li>rs6601178</li>	2
Q8WV48	203260		<li>S->F at 190: in dbSNP:rs2275420</li><li>I->V at 220: in dbSNP:rs1339374</li><li>S->C at 242: in dbSNP:rs10441685</li>									<li>rs2275420</li><li>rs10441685</li><li>rs1339374</li>	2
Q8WVB3	284004		<li>I->V at 145: in dbSNP:rs4789773</li>									rs4789773	2
Q8WVB6	63922		<li>S->F at 63: in dbSNP:rs2277902</li><li>Q->P at 82: in dbSNP:rs2277901</li><li>K->R at 244: in dbSNP:rs3765263</li><li>A->S at 466: in dbSNP:rs34595992</li><li>P->L at 928: in dbSNP:rs2294451</li>									<li>rs2294451</li><li>rs3765263</li><li>rs2277901</li><li>rs2277902</li><li>rs34595992</li>	2
Q8WVC6	79877		<li>N->I at 84: in dbSNP:rs17850104</li>									rs17850104	2
Q8WVD3	51444		<li>K->R at 81: in dbSNP:rs7229690</li>									rs7229690	2
Q8WVE0	221143		<li>T->N at 193: in dbSNP:rs11549810</li>									rs11549810	2
Q8WVF1	127700		<li>P->R at 31: in dbSNP:rs11547025</li><li>K->E at 232: in dbSNP:rs2359016</li>									<li>rs11547025</li><li>rs2359016</li>	2
Q8WVK2	11017		<li>T->I at 81</li><li>S->F at 114</li>										2
Q8WVM7	10274		<li>Q->H at 1132: in dbSNP:rs34149860</li>									rs34149860	2
Q8WVM8	23256		<li>K->R at 63: in dbSNP:rs229150</li>									rs229150	2
Q8WVP5	126282		<li>A->V at 118: in dbSNP:rs17851549</li>									rs17851549	2
Q8WVP7	64327		<li>T->A at 228: in dbSNP:rs6957768</li>									rs6957768	2
Q8WVR3	55262		<li>R->H at 295: in dbSNP:rs2293477</li>									rs2293477	2
Q8WVS4	55112		<li>E->G at 91: in dbSNP:rs17837851</li><li>Q->R at 273: in dbSNP:rs2788478</li>									<li>rs17837851</li><li>rs2788478</li>	2
Q8WVT3	51112		<li>S->G at 301: in dbSNP:rs11686212</li><li>E->Q at 717: in a breast cancer sample; somatic mutation</li>									rs11686212	2
Q8WVV4	79983		<li>P->S at 207: in dbSNP:rs363766</li><li>C->S at 239</li><li>E->A at 296: in dbSNP:rs363751</li><li>M->V at 323: in dbSNP:rs363775</li><li>R->Q at 329: in POF2B; disrupts binding to nonmuscle actin filaments, MIM: 300604</li><li>M->L at 349: in dbSNP:rs363774, MIM: 300604</li><li>Q->K at 434, MIM: 300604</li><li>C->Y at 444, MIM: 300604</li>			binding	GO:0005488			<li>Q92192</li><li>Q92193</li><li>P53499</li><li>P26183</li><li>P53498</li><li>O13419</li><li>Q9P4D1</li><li>P48465</li><li>P53455</li><li>Q39596</li><li>Q39758</li><li>P26182</li><li>P80709</li><li>Q9UVX4</li><li>O17320</li><li>P53689</li><li>P78711</li><li>P30161</li><li>P17128</li><li>P45521</li><li>P45520</li><li>P20904</li><li>P81085</li><li>Q6TCF2</li><li>Q99023</li><li>Q75D00</li><li>P51775</li><li>P10365</li><li>P60011</li><li>P60010</li><li>Q8SWN8</li><li>O16808</li><li>P02577</li><li>P10989</li><li>P68555</li><li>Q05214</li><li>Q8X119</li><li>O65316</li><li>O65315</li><li>O65314</li><li>P53491</li><li>P91754</li><li>P13363</li><li>P11426</li><li>O81221</li><li>Q11212</li><li>P50138</li><li>P53477</li><li>P53476</li><li>P60009</li><li>P53502</li><li>Q2U7A3</li><li>P53500</li><li>Q9UVZ8</li><li>P14235</li><li>O00937</li><li>Q9UVF3</li><li>Q24733</li><li>P90689</li><li>P24902</li><li>O74258</li>	Premature ovarian failure type 2B (POF2B) [MIM:300604]	<li>rs363766</li><li>rs363751</li><li>rs363775</li><li>rs363774</li>	2
Q8WVV5	10385		<li>P->S at 479: in dbSNP:rs16891646</li>									rs16891646	2
Q8WVX3	401152		<li>Q->R at 17: in dbSNP:rs17851522</li><li>P->H at 32: in dbSNP:rs11544530</li>									<li>rs11544530</li><li>rs17851522</li>	2
Q8WVX9	84188		<li>E->K at 96: in dbSNP:rs12793516</li>									rs12793516	2
Q8WVZ1	131540		<li>G->A at 66: in dbSNP:rs13315830</li>									rs13315830	2
Q8WW01	116461		<li>G->D at 19: in dbSNP:rs2274432</li><li>Q->H at 59: in dbSNP:rs1046934</li>									<li>rs1046934</li><li>rs2274432</li>	2
Q8WW14	143379		<li>T->M at 124: in dbSNP:rs11551267</li>									rs11551267	2
Q8WW18	146853		<li>D->E at 22: in dbSNP:rs4795087</li>									rs4795087	2
Q8WW24	150483		<li>T->M at 83: in dbSNP:rs4854235</li><li>K->N at 102: in dbSNP:rs17802433</li><li>C->S at 272: in a breast cancer sample; somatic mutation</li><li>N->K at 409: in dbSNP:rs17120062</li>									<li>rs17802433</li><li>rs17120062</li><li>rs4854235</li>	2
Q8WW27	403314		<li>S->F at 75: in dbSNP:rs16861394</li><li>F->S at 271: in dbSNP:rs1174658</li><li>P->S at 275: in dbSNP:rs10911391</li><li>D->G at 300: in dbSNP:rs16861381</li><li>K->E at 331: in dbSNP:rs1174657</li><li>V->M at 345: in dbSNP:rs10911390</li>									<li>rs16861394</li><li>rs1174657</li><li>rs1174658</li><li>rs16861381</li><li>rs10911390</li><li>rs10911391</li>	2
Q8WW38	23414		<li>E->G at 30: in TOF; in one patient with sporadic TOF; does not affect its ability to interact with GATA4, MIM: 187500</li><li>A->G at 403: in dbSNP:rs11993776, MIM: 187500</li><li>S->G at 657: in TOF; in one patient with sporadic TOF; slightly impairs its ability to interact with GATA4; dbSNP:rs28374544, MIM: 187500</li><li>E->D at 782: in dbSNP:rs2920048, MIM: 187500</li><li>A->V at 1055: in dbSNP:rs16873741, MIM: 187500</li>							<li>O49743</li><li>P43694</li><li>P43691</li>	Tetralogy of Fallot (TOF) [MIM:187500]	<li>rs16873741</li><li>rs11993776</li><li>rs28374544</li><li>rs2920048</li>	2
Q8WW43	83464		<li>F->L at 217: in dbSNP:rs1047552</li>									rs1047552	2
Q8WW52	338094		<li>D->N at 51: in dbSNP:rs17399297</li><li>N->D at 87: in dbSNP:rs17856620</li><li>I->T at 119: in dbSNP:rs17851843</li><li>A->V at 416: in dbSNP:rs1368883</li><li>G->A at 526: in dbSNP:rs11206394</li><li>G->D at 546: in dbSNP:rs2289015</li>									<li>rs17851843</li><li>rs1368883</li><li>rs11206394</li><li>rs17856620</li><li>rs2289015</li><li>rs17399297</li>	2
Q8WW59	283377		<li>T->M at 50: in dbSNP:rs2657881</li>									rs2657881	2
Q8WWB5	120379		<li>A->V at 117: in dbSNP:rs1425917</li>									rs1425917	2
Q8WWB7	112770		<li>V->I at 94: in dbSNP:rs1570805</li><li>P->S at 203: in dbSNP:rs10908496</li><li>I->V at 223: in dbSNP:rs10908495</li>									<li>rs10908496</li><li>rs10908495</li><li>rs1570805</li>	2
Q8WWC4	79568		<li>L->I at 290: in dbSNP:rs2118548</li>									rs2118548	2
Q8WWF3	136263		<li>R->W at 88: in dbSNP:rs4728190</li>									rs4728190	2
Q8WWF5	148066		<li>P->S at 37: in dbSNP:rs2240743</li><li>R->Q at 78: in dbSNP:rs2240744</li><li>V->I at 100: in dbSNP:rs2240745</li><li>A->S at 157: in dbSNP:rs8103406</li><li>V->A at 159: in dbSNP:rs8107825</li><li>R->C at 163: in dbSNP:rs8104246</li><li>R->H at 163: in dbSNP:rs17304380</li><li>D->N at 192: in dbSNP:rs16992985</li>									<li>rs16992985</li><li>rs17304380</li><li>rs2240743</li><li>rs2240744</li><li>rs8104246</li><li>rs8103406</li><li>rs2240745</li><li>rs8107825</li>	2
Q8WWF8	133690		<li>R->Q at 85: in dbSNP:rs1445898</li><li>M->V at 201: in dbSNP:rs1345826</li>									<li>rs1345826</li><li>rs1445898</li>	2
Q8WWG9			<li>G->S at 47: in dbSNP:rs13409084</li><li>E->D at 145: in dbSNP:rs12621643</li>									<li>rs12621643</li><li>rs13409084</li>	2
Q8WWH4	136991		<li>K->T at 216: in dbSNP:rs1029396</li>									rs1029396	2
Q8WWH5	142940		<li>E->A at 103: in dbSNP:rs34393297</li><li>R->K at 167: in dbSNP:rs7099565</li>									<li>rs34393297</li><li>rs7099565</li>	2
Q8WWI1	4008		<li>T->A at 354: in a colorectal cancer sample; somatic mutation</li><li>L->M at 785: in a colorectal cancer sample; somatic mutation</li>										2
Q8WWI5	23446		<li>S->A at 644: in dbSNP:rs3199966</li>									rs3199966	2
Q8WWK9	26586		<li>M->K at 236: in dbSNP:rs35975899</li><li>I->V at 323: in dbSNP:rs7335867</li>									<li>rs7335867</li><li>rs35975899</li>	2
Q8WWN9	26034		<li>S->P at 194: in dbSNP:rs1060390</li>									rs1060390	2
Q8WWP7	170575		<li>V->E at 166: in a breast cancer sample; somatic mutation</li><li>R->S at 254: in dbSNP:rs7811263</li>									rs7811263	2
Q8WWQ0	55023		<li>V->I at 469: in a colorectal cancer sample; somatic mutation</li><li>G->V at 663: in dbSNP:rs7747479</li><li>T->I at 874: in dbSNP:rs11547228</li><li>L->P at 1093: in dbSNP:rs9350797</li><li>T->P at 1135: in dbSNP:rs34841569</li><li>N->T at 1445: in dbSNP:rs36048894</li><li>R->I at 1767: in a colorectal cancer sample; somatic mutation</li>									<li>rs11547228</li><li>rs36048894</li><li>rs7747479</li><li>rs34841569</li><li>rs9350797</li>	2
Q8WWQ2	60495		<li>A->T at 315: in dbSNP:rs17110744</li><li>Y->F at 579: in dbSNP:rs10883100</li>									<li>rs17110744</li><li>rs10883100</li>	2
Q8WWQ8	55576		<li>I->V at 110: in dbSNP:rs17034186</li><li>E->K at 306: in dbSNP:rs12319476</li><li>P->H at 510: in dbSNP:rs1609860</li><li>R->Q at 787: in dbSNP:rs17034336</li><li>R->H at 881: in dbSNP:rs7973658</li><li>N->T at 1736: in dbSNP:rs17034433</li><li>P->T at 2039: in dbSNP:rs7306642</li><li>L->V at 2401: in dbSNP:rs2271637</li><li>Y->S at 2519: in dbSNP:rs3751197</li>									<li>rs7973658</li><li>rs7306642</li><li>rs17034336</li><li>rs1609860</li><li>rs12319476</li><li>rs3751197</li><li>rs17034433</li><li>rs2271637</li><li>rs17034186</li>	2
Q8WWU5	6954		<li>G->A at 253: in dbSNP:rs2234045</li><li>R->Q at 429: in dbSNP:rs2234051</li>									<li>rs2234051</li><li>rs2234045</li>	2
Q8WWU7	142683		<li>R->H at 103: in dbSNP:rs6680969</li><li>Q->R at 171: in dbSNP:rs12090411</li>									<li>rs6680969</li><li>rs12090411</li>	2
Q8WWW8	139716		<li>P->S at 237: in dbSNP:rs17281349</li>									rs17281349	2
Q8WWX8	115584		<li>T->P at 47: in dbSNP:rs36048966</li><li>V->A at 182: reduces serum myo-inositol concentration; dbSNP:rs11074656</li><li>F->L at 258: in dbSNP:rs35993597</li><li>Q->R at 452: in dbSNP:rs17854935</li><li>M->I at 526</li>									<li>rs11074656</li><li>rs36048966</li><li>rs17854935</li><li>rs35993597</li>	2
Q8WWY3	26121		<li>Missing  at 111-114: in RP11; high penetrance</li><li>A->E at 194: in RP11; mislocation of the protein in the cytoplasm; the result may be a deficiency in splicing function in the retina, MIM: 600138</li><li>A->P at 216: in RP11; mislocation of the protein in the cytoplasm; the result may be a deficiency in splicing function in the retina, MIM: 600138</li>					cytoplasm	GO:0005737	P05737	Retinitis pigmentosa type 11 (RP11) [MIM:600138]		2
Q8WWY6	85509		<li>C->R at 190: in dbSNP:rs2972588</li>									rs2972588	2
Q8WWZ1	84639		<li>I->T at 44: in dbSNP:rs6761276</li><li>A->D at 51: in dbSNP:rs6743376</li>									<li>rs6743376</li><li>rs6761276</li>	2
Q8WWZ3	128178		<li>M->I at 9: in dbSNP:rs966365</li><li>S->F at 103</li><li>L->R at 122: in EDA; severely impairs NF-kappa-B activation and acted in a dominant-negative manner, MIM: 224900</li><li>E->K at 152: in EDA; may reduce binding to EDAR; impairs NF-kappa-B activation by about 50%, MIM: 224900</li>			binding	GO:0005488			<li>Q9UNE0</li><li>Q92838</li><li>Q9BEG5</li><li>Q90VY2</li>	Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]	rs966365	2
Q8WWZ4	10349		<li>P->S at 203: in dbSNP:rs9909216</li><li>V->I at 287: in dbSNP:rs11657804</li><li>T->M at 916: in dbSNP:rs4968849</li>									<li>rs11657804</li><li>rs4968849</li><li>rs9909216</li>	2
Q8WWZ7	23461		<li>Q->K at 93: in dbSNP:rs12383</li><li>A->T at 178: in dbSNP:rs11544715</li><li>Q->R at 484: in dbSNP:rs17686569</li><li>M->V at 753: in dbSNP:rs9898003</li><li>A->S at 832: in dbSNP:rs536009</li><li>M->V at 960: in dbSNP:rs557491</li><li>D->G at 1260: in dbSNP:rs11544716</li>									<li>rs17686569</li><li>rs9898003</li><li>rs11544716</li><li>rs536009</li><li>rs11544715</li><li>rs12383</li><li>rs557491</li>	2
Q8WWZ8	170392		<li>S->P at 237: in dbSNP:rs35089256</li>									rs35089256	2
Q8WX93	23022		<li>M->I at 224: in dbSNP:rs7671781</li>									rs7671781	2
Q8WX94	199713		<li>V->I at 319: in dbSNP:rs775882</li><li>R->P at 693: in HYDM, MIM: 231090</li><li>R->W at 693: in HYDM, MIM: 231090</li><li>N->S at 913: in HYDM, MIM: 231090</li><li>T->A at 971: in dbSNP:rs7256020, MIM: 231090</li>								Hydatidiform mole (HYDM) [MIM:231090]	<li>rs7256020</li><li>rs775882</li>	2
Q8WXA2	160065		<li>V->I at 46: in dbSNP:rs537916</li><li>Q->R at 47: in dbSNP:rs2114084</li>									<li>rs2114084</li><li>rs537916</li>	2
Q8WXA8	170572		<li>V->M at 128: in a colorectal cancer sample; somatic mutation</li><li>N->K at 163: in dbSNP:rs6766410</li><li>G->A at 405: in dbSNP:rs6807362</li>									<li>rs6807362</li><li>rs6766410</li>	2
Q8WXB1	151194		<li>T->I at 192: in dbSNP:rs2551949</li>									rs2551949	2
Q8WXB4	80095		<li>S->G at 141: in dbSNP:rs11673029</li>									rs11673029	2
Q8WXC7	643905		<li>G->S at 58: in dbSNP:rs10439373</li><li>K->M at 342: in dbSNP:rs6732185</li><li>S->A at 380: in dbSNP:rs6728493</li>									<li>rs6732185</li><li>rs6728493</li><li>rs10439373</li>	2
Q8WXD2	29106		<li>S->N at 125: in dbSNP:rs2305710</li><li>M->V at 233: in dbSNP:rs35664837</li>									<li>rs35664837</li><li>rs2305710</li>	2
Q8WXD5	79833		<li>G->D at 140: in dbSNP:rs1056104</li>									rs1056104	2
Q8WXF7	51062		<li>A->P at 161: in SPG3, MIM: 182600</li><li>R->Q at 217: in SPG3, MIM: 182600</li><li>R->C at 239: in SPG3, MIM: 182600</li><li>H->P at 247: in SPG3, MIM: 182600</li><li>H->R at 258: in SPG3, MIM: 182600</li><li>S->Y at 259: in SPG3, MIM: 182600</li>							<li>P15521</li><li>Q04398</li>	Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]		2
Q8WXG1	91543		<li>L->R at 42: in dbSNP:rs17851586</li><li>V->I at 52: in dbSNP:rs2305257</li>									<li>rs2305257</li><li>rs17851586</li>	2
Q8WXG6	8567		<li>P->T at 696: in dbSNP:rs17854007</li><li>V->M at 751: in dbSNP:rs1051006</li><li>R->Q at 765: in dbSNP:rs3736101</li><li>R->G at 968: in dbSNP:rs17854008</li><li>L->F at 1040: in dbSNP:rs17854009</li><li>L->P at 1518: in dbSNP:rs34534575</li>									<li>rs17854008</li><li>rs17854009</li><li>rs1051006</li><li>rs3736101</li><li>rs17854007</li><li>rs34534575</li>	2
Q8WXG9			<li>L->R at 127: in dbSNP:rs41311333</li><li>R->K at 249: in dbSNP:rs41303344</li><li>V->A at 551: in dbSNP:rs6889939</li><li>L->F at 1093: in dbSNP:rs2366777</li><li>I->V at 1187: in dbSNP:rs16868935</li><li>T->I at 1916: in dbSNP:rs35791889</li><li>T->M at 1927: in dbSNP:rs17544552</li><li>V->I at 1951: in dbSNP:rs4916684</li><li>N->D at 1985: in dbSNP:rs41303352</li><li>P->L at 1987: in dbSNP:rs4916685</li><li>L->F at 2004: in dbSNP:rs16868972</li><li>R->C at 2097: in dbSNP:rs16868974</li><li>Y->C at 2232: in dbSNP:rs10037067</li><li>N->S at 2345: in dbSNP:rs2366926</li><li>G->A at 2379</li><li>N->S at 2584: in dbSNP:rs1878878</li><li>S->L at 2764: in dbSNP:rs16869016</li><li>A->T at 2803</li><li>V->I at 3094: in dbSNP:rs13157270</li><li>A->V at 3217</li><li>G->D at 3248: in dbSNP:rs16869032</li><li>F->L at 3347: in dbSNP:rs10067636</li><li>E->K at 3471: in dbSNP:rs2366928</li><li>E->A at 3868: in dbSNP:rs16869088</li><li>E->G at 5344</li><li>T->A at 5438</li>									<li>rs41303344</li><li>rs10067636</li><li>rs16869088</li><li>rs41303352</li><li>rs10037067</li><li>rs16868972</li><li>rs35791889</li><li>rs16868974</li><li>rs16869032</li><li>rs16869016</li><li>rs2366777</li><li>rs2366926</li><li>rs4916684</li><li>rs2366928</li><li>rs16868935</li><li>rs13157270</li><li>rs1878878</li><li>rs6889939</li><li>rs41311333</li><li>rs4916685</li><li>rs17544552</li>	2
Q8WXH0	23224		<li>P->S at 8: in dbSNP:rs2275017</li><li>S->R at 432: in dbSNP:rs35554503</li><li>I->T at 574: in dbSNP:rs9944035</li><li>R->W at 1393: in dbSNP:rs17751301</li><li>M->T at 1969: in dbSNP:rs4902264</li><li>A->V at 2284: in dbSNP:rs4027402</li><li>A->E at 2347: in dbSNP:rs34625768</li><li>N->S at 2358: in dbSNP:rs4027404</li><li>S->G at 2359: in dbSNP:rs7157465</li><li>S->N at 2359: in dbSNP:rs4027404</li><li>A->T at 2394: in dbSNP:rs4027405</li><li>A->T at 2395: in dbSNP:rs4027405</li><li>V->G at 2490: in dbSNP:rs34393543</li><li>I->V at 2564: in dbSNP:rs11628107</li><li>G->S at 2801: in dbSNP:rs1890908</li><li>S->G at 2802: in dbSNP:rs1890908</li><li>I->V at 2942: in dbSNP:rs3829767</li><li>E->D at 3026: in dbSNP:rs34843668</li><li>N->S at 3130: in dbSNP:rs11847087</li><li>D->H at 3253: in dbSNP:rs8010911</li><li>H->R at 3309: in dbSNP:rs8010699</li><li>K->Q at 3523: in dbSNP:rs35203186</li><li>N->H at 3982: in dbSNP:rs10137972</li><li>R->H at 4041: in dbSNP:rs17101661</li><li>P->A at 4912: in dbSNP:rs17766354</li><li>E->K at 4913: in dbSNP:rs12881815</li><li>H->Y at 5086: in dbSNP:rs2039475</li><li>L->M at 5186: in dbSNP:rs10151658</li><li>D->N at 5547: in dbSNP:rs17179194</li><li>V->I at 5940: in a breast cancer sample; somatic mutation</li><li>A->V at 6155: in dbSNP:rs2275014</li><li>Y->C at 6200: in a breast cancer sample; somatic mutation</li><li>K->E at 6681: in dbSNP:rs35315070</li><li>R->W at 6697: in dbSNP:rs35700578</li>									<li>rs35554503</li><li>rs17101661</li><li>rs17179194</li><li>rs35700578</li><li>rs35203186</li><li>rs10137972</li><li>rs2275014</li><li>rs35315070</li><li>rs11847087</li><li>rs2275017</li><li>rs1890908</li><li>rs4902264</li><li>rs17751301</li><li>rs8010911</li><li>rs4027405</li><li>rs4027404</li><li>rs4027402</li><li>rs8010699</li><li>rs7157465</li><li>rs9944035</li><li>rs12881815</li><li>rs34625768</li><li>rs34393543</li><li>rs3829767</li><li>rs11628107</li><li>rs34843668</li><li>rs10151658</li><li>rs17766354</li><li>rs2039475</li>	2
Q8WXH2	57338		<li>I->T at 376: in dbSNP:rs17857118</li><li>P->T at 472: in dbSNP:rs17853660</li><li>P->L at 645: in dbSNP:rs17853661</li>									<li>rs17857118</li><li>rs17853660</li><li>rs17853661</li>	2
Q8WXH4	140456		<li>D->N at 249: in dbSNP:rs34025595</li><li>S->G at 263: in dbSNP:rs35859007</li>									<li>rs34025595</li><li>rs35859007</li>	2
Q8WXH6	142684		<li>H->L at 45: in dbSNP:rs1180895</li>									rs1180895	2
Q8WXI2	22866		<li>R->H at 46: in a colorectal cancer sample; somatic mutation</li>										2
Q8WXI3	136371		<li>R->C at 453: in dbSNP:rs3800791</li>									rs3800791	2
Q8WXI4	26027		<li>R->W at 11: in dbSNP:rs34630746</li><li>P->L at 165: in dbSNP:rs2304306</li><li>G->D at 202: in dbSNP:rs1702003</li><li>M->I at 212: in dbSNP:rs2304305</li><li>R->H at 536: in dbSNP:rs12403630</li>									<li>rs34630746</li><li>rs1702003</li><li>rs2304305</li><li>rs2304306</li><li>rs12403630</li>	2
Q8WXI8	338339		<li>S->G at 32: in dbSNP:rs4304840</li>									rs4304840	2
Q8WXJ9	127247		<li>S->N at 2: in dbSNP:rs3795251</li><li>V->A at 101: in dbSNP:rs1796814</li>									<li>rs3795251</li><li>rs1796814</li>	2
Q8WXK8	667		<li>N->K at 993: in dbSNP:rs35014998</li><li>H->Y at 1116: in dbSNP:rs6909714</li>									<li>rs6909714</li><li>rs35014998</li>	2
Q8WXQ8	93979		<li>P->S at 79: in dbSNP:rs17388190</li><li>L->S at 336: in dbSNP:rs11761888</li><li>E->D at 338: in dbSNP rsrs17854248</li><li>S->G at 378: in dbSNP:rs11765961</li>									<li>rs11765961</li><li>rs17388190</li><li>rs17854248</li><li>rs11761888</li>	2
Q8WXR4	140469		<li>P->S at 21: in dbSNP rsrs35391761</li><li>R->H at 185: in dbSNP rsrs55911154</li><li>N->S at 267: in dbSNP rsrs34509373</li><li>I->V at 275: in dbSNP:rs10209102</li><li>K->E at 309: in dbSNP:rs4668246</li><li>H->L at 316: in dbSNP rsrs55633190</li><li>E->Q at 352: in dbSNP rsrs56179904</li><li>N->S at 388: in dbSNP rsrs34273653</li><li>A->T at 406: in dbSNP:rs10168181</li><li>Q->P at 638: in dbSNP rsrs55911627</li><li>V->I at 770: in dbSNP:rs6736609</li><li>E->G at 773: in dbSNP rsrs33962844</li><li>E->K at 798: in dbSNP:rs11892763</li><li>R->Q at 918: in dbSNP rsrs55769829</li><li>S->C at 969: in dbSNP rsrs35857918</li><li>R->C at 990: in dbSNP rsrs34236931</li><li>K->R at 1082: in dbSNP:rs10185178</li><li>I->V at 1092: in dbSNP rsrs34219776</li><li>V->I at 1137: in dbSNP rsrs34546065</li><li>R->C at 1165: in dbSNP rsrs56052422</li>									<li>rs34509373</li><li>rs56179904</li><li>rs10209102</li><li>rs33962844</li><li>rs6736609</li><li>rs11892763</li><li>rs55633190</li><li>rs34273653</li><li>rs10185178</li><li>rs34546065</li><li>rs4668246</li><li>rs10168181</li><li>rs35857918</li><li>rs34236931</li><li>rs55911627</li><li>rs56052422</li><li>rs34219776</li><li>rs35391761</li><li>rs55769829</li><li>rs55911154</li>	2
Q8WXS8	140766		<li>R->C at 179: in dbSNP:rs34022601</li><li>P->L at 590: in dbSNP:rs10823607</li><li>L->M at 937: in dbSNP:rs12774070</li><li>S->N at 1017: in dbSNP:rs10999516</li><li>E->G at 1049: in dbSNP:rs4747096</li>									<li>rs34022601</li><li>rs10823607</li><li>rs10999516</li><li>rs12774070</li><li>rs4747096</li>	2
Q8WXU2	161582		<li>P->S at 2</li><li>N->K at 38: in dbSNP:rs16976354</li><li>V->I at 91: in dbSNP:rs17819126</li><li>E->G at 191: in dbSNP:rs600753</li><li>A->V at 332: in dbSNP:rs17855756</li><li>S->C at 420</li>									<li>rs600753</li><li>rs17819126</li><li>rs16976354</li><li>rs17855756</li>	2
Q8WXW3	10464		<li>I->V at 167: in dbSNP:rs1372000</li><li>R->Q at 405: in dbSNP:rs17089782</li><li>I->V at 630: in dbSNP:rs11544631</li>									<li>rs11544631</li><li>rs1372000</li><li>rs17089782</li>	2
Q8WXX0	56171		<li>H->P at 169: in dbSNP:rs1072599</li><li>A->T at 280: in dbSNP:rs2375643</li><li>I->V at 315: in dbSNP:rs17838596</li><li>S->N at 438: in dbSNP:rs16843720</li><li>R->C at 545: in dbSNP:rs10931715</li><li>D->H at 565: in dbSNP:rs2635718</li><li>K->E at 675: in dbSNP:rs10198893</li><li>K->E at 825: in dbSNP:rs6719500</li><li>P->T at 1422: in dbSNP:rs168192</li><li>E->K at 1525: in dbSNP:rs13415574</li><li>R->Q at 1886: in dbSNP:rs13034775</li><li>P->L at 1940: in dbSNP:rs2375544</li><li>P->L at 1971: in dbSNP:rs2889109</li><li>M->T at 2020: in dbSNP:rs10184131</li><li>N->K at 2459: in dbSNP:rs16841199</li><li>T->I at 2569: in dbSNP:rs2293066</li><li>I->V at 2809: in dbSNP:rs16841018</li><li>P->L at 3319: in dbSNP:rs13411834</li><li>R->H at 3386: in dbSNP:rs6708527</li>									<li>rs17838596</li><li>rs2375643</li><li>rs2889109</li><li>rs13411834</li><li>rs10931715</li><li>rs2635718</li><li>rs16841199</li><li>rs168192</li><li>rs1072599</li><li>rs6719500</li><li>rs2375544</li><li>rs13034775</li><li>rs10198893</li><li>rs16841018</li><li>rs13415574</li><li>rs6708527</li><li>rs10184131</li><li>rs16843720</li><li>rs2293066</li>	2
Q8WXX7	26053		<li>A->S at 303: in dbSNP:rs2293507</li>									rs2293507	2
Q8WY07	84889		<li>L->V at 508: in dbSNP:rs6525447</li>									rs6525447	2
Q8WY21	114815		<li>K->N at 223: in a breast cancer sample; somatic mutation</li>										2
Q8WY54	22843		<li>L->S at 233: in a breast cancer sample; somatic mutation</li><li>R->G at 322: in a breast cancer sample; somatic mutation</li>										2
Q8WY91	51078		<li>S->G at 121: in dbSNP:rs7424328</li>									rs7424328	2
Q8WYA1	56938		<li>N->S at 340: in dbSNP:rs1037921</li><li>A->V at 574: in dbSNP:rs11049005</li>									<li>rs1037921</li><li>rs11049005</li>	2
Q8WYB5	23522		<li>T->A at 483: in a breast cancer sample; somatic mutation</li><li>V->I at 1499: in dbSNP:rs3740321</li>									rs3740321	2
Q8WYJ6	1731		<li>G->V at 80: in dbSNP:rs34518080</li>									rs34518080	2
Q8WYK0	134526		<li>V->I at 230: in dbSNP:rs34607174</li><li>A->T at 403: in dbSNP:rs10371</li>									<li>rs34607174</li><li>rs10371</li>	2
Q8WYK1	129684		<li>S->L at 452: in dbSNP:rs17727261</li><li>T->M at 1195: in dbSNP:rs34165507</li>									<li>rs34165507</li><li>rs17727261</li>	2
Q8WYK2	122953		<li>T->A at 13: in dbSNP:rs3625</li>									rs3625	2
Q8WYN3	80034		<li>P->L at 474: in a colorectal cancer sample; somatic mutation</li>										2
Q8WYP3	54453		<li>S->T at 197: in dbSNP:rs3803981</li><li>A->T at 643: in dbSNP:rs199603</li>									<li>rs199603</li><li>rs3803981</li>	2
Q8WYP5	25909		<li>N->S at 883: in dbSNP:rs2642990</li><li>L->V at 2194: in dbSNP:rs12410563</li>									<li>rs2642990</li><li>rs12410563</li>	2
Q8WYQ5	54487		<li>I->V at 174: in dbSNP:rs35987994</li><li>N->D at 725: in dbSNP:rs11546015</li>									<li>rs35987994</li><li>rs11546015</li>	2
Q8WYQ9	23174		<li>I->V at 54: in dbSNP:rs11648852</li><li>G->A at 244: in dbSNP:rs13338940</li><li>L->V at 290: in a breast cancer sample; somatic mutation</li><li>V->M at 693: in dbSNP:rs3748400</li>									<li>rs11648852</li><li>rs3748400</li><li>rs13338940</li>	2
Q8WYR1	23533		<li>R->C at 28: in a colorectal cancer sample; somatic mutation</li>										2
Q8WZ04			<li>L->P at 16: in non-syndromic deafness</li><li>R->Q at 81: in non-syndromic deafness</li><li>W->R at 105: in non-syndromic deafness</li><li>E->K at 110: in non-syndromic deafness</li><li>R->H at 158: in non-syndromic deafness</li><li>R->Q at 208: in non-syndromic deafness</li>										2
Q8WZ64	116984		<li>Q->R at 1523: in dbSNP:rs4833069</li>									rs4833069	2
Q8WZ69	143501		<li>F->S at 100: in dbSNP:rs12795289</li>									rs12795289	2
Q8WZ74	83992		<li>Q->K at 1148: in dbSNP:rs10274022</li><li>L->V at 1213</li>									rs10274022	2
Q8WZ75	54538		<li>Q->P at 103: in dbSNP:rs4995424</li><li>R->Q at 669: in dbSNP:rs4408324</li>									<li>rs4995424</li><li>rs4408324</li>	2
Q8WZ79	58511		<li>K->R at 47: in dbSNP:rs3754274</li>									rs3754274	2
Q8WZ84	283159		<li>F->V at 102: in dbSNP:rs2510433</li><li>C->W at 127: in dbSNP:rs7107539</li><li>L->P at 194: in dbSNP:rs4936919</li>									<li>rs4936919</li><li>rs7107539</li><li>rs2510433</li>	2
Q8WZ92	120065		<li>G->R at 7: in dbSNP:rs1482804</li><li>N->D at 318: in dbSNP:rs7949771</li>									<li>rs7949771</li><li>rs1482804</li>	2
Q8WZ94	120066		<li>T->K at 158: in dbSNP:rs16932503</li><li>F->L at 251: in dbSNP:rs364427</li>									<li>rs364427</li><li>rs16932503</li>	2
Q8WZA0	84328		<li>G->D at 104: in dbSNP:rs2304778</li>									rs2304778	2
Q8WZA1	55624		<li>E->K at 223: in MEB; specific activity abolished in the membrane bound form but not the soluble form, MIM: 253280</li><li>E->V at 250: in dbSNP:rs17855359, MIM: 253280</li><li>R->H at 265: in MEB; found on the same allele as Q-311; could be a polymorphism, MIM: 253280</li><li>C->Y at 269: in MEB; specific activity abolished of the membrane bound form but not the soluble form, MIM: 253280</li><li>R->Q at 311: in MEB; found on the same allele as H-265; could be a polymorphism, MIM: 253280</li><li>W->S at 425: in MEB, MIM: 253280</li><li>R->C at 442: in MEB; dbSNP:rs28940869, MIM: 253280</li><li>C->Y at 490: in MEB, MIM: 253280</li><li>P->R at 493: in MEB; specific activity abolished: in dbSNP rsrs28942068, MIM: 253280</li><li>V->I at 504: in dbSNP:rs17102066, MIM: 253280</li><li>S->N at 550: in MEB, MIM: 253280</li><li>V->M at 623: in dbSNP:rs6659553, MIM: 253280</li>					membrane	GO:0016020		Muscle-eye-brain disease (MEB) [MIM:253280]	<li>rs28940869</li><li>rs28942068</li><li>rs6659553</li><li>rs17102066</li><li>rs17855359</li>	2
Q92187	7903		<li>E->G at 92: in a colorectal cancer sample; somatic mutation</li>										2
Q92481	7021		<li>P->R at 73: in CHAR, MIM: 169100</li><li>R->C at 236: in CHAR, MIM: 169100</li><li>R->S at 236: in CHAR, MIM: 169100</li><li>A->D at 275: in CHAR, MIM: 169100</li><li>R->Q at 285: in CHAR, MIM: 169100</li><li>R->C at 300: in CHAR, MIM: 169100</li>								Char syndrome (CHAR) [MIM:169100]		2
Q92482	360		<li>V->M at 43: in dbSNP rsrs34942735</li>									rs34942735	2
Q92484	10924		<li>H->Y at 16: in dbSNP:rs12523814</li><li>P->S at 161: in dbSNP:rs28385609</li>									<li>rs28385609</li><li>rs12523814</li>	2
Q92485	27293		<li>R->H at 381: in dbSNP:rs34560878</li>									rs34560878	2
Q92496	10877		<li>G->E at 306: in dbSNP:rs10494745</li>									rs10494745	2
Q92504	7922		<li>D->N at 87: in dbSNP:rs34211188</li><li>G->R at 124: in dbSNP:rs35690712</li><li>E->G at 280: in dbSNP:rs1048778</li>									<li>rs34211188</li><li>rs35690712</li><li>rs1048778</li>	2
Q92506	7923		<li>V->L at 158: in a breast cancer sample; somatic mutation</li><li>H->R at 190: in dbSNP:rs34491699</li>									rs34491699	2
Q92519	28951		<li>H->R at 4: in dbSNP rsrs55813198</li>									rs55813198	2
Q92521	9488		<li>I->L at 68: in dbSNP:rs17851556</li><li>M->T at 162: in dbSNP:rs2290344</li><li>W->L at 299: in dbSNP:rs678892</li><li>L->S at 484: in dbSNP:rs17851554</li><li>S->G at 502: in dbSNP:rs652397</li><li>K->T at 551: in dbSNP:rs2444042</li>									<li>rs17851554</li><li>rs2444042</li><li>rs2290344</li><li>rs678892</li><li>rs17851556</li><li>rs652397</li>	2
Q92523	1120		<li>I->V at 66: in dbSNP:rs3213445</li><li>G->D at 320: in dbSNP:rs2269383</li><li>S->C at 427: in dbSNP:rs8142477</li><li>E->K at 531: in dbSNP:rs470117</li><li>S->Y at 664: in dbSNP:rs1804702</li>									<li>rs3213445</li><li>rs1804702</li><li>rs8142477</li><li>rs470117</li><li>rs2269383</li>	2
Q92530	9491		<li>F->C at 36: in dbSNP:rs1803415</li><li>H->R at 174: in dbSNP:rs2235587</li>									<li>rs2235587</li><li>rs1803415</li>	2
Q92535	5279		<li>P->S at 266: in dbSNP:rs1063412</li>									rs1063412	2
Q92538	8729		<li>G->S at 1693: in dbSNP:rs11191274</li>									rs11191274	2
Q92539	9663		<li>S->L at 734: in Majeed syndrome, MIM: 609628</li>								Majeed syndrome [MIM:609628]		2
Q92552	23107		<li>G->D at 284: in dbSNP:rs3209157</li>									rs3209157	2
Q92561	9796		<li>R->S at 21: in dbSNP:rs11547660</li>									rs11547660	2
Q92562	9896		<li>I->T at 41: in CMT4J, MIM: 611228</li><li>D->G at 48, MIM: 611228</li><li>D->Y at 53: in ALS11, MIM: 612577</li><li>M->L at 364: in dbSNP:rs2295837, MIM: 612577</li><li>R->G at 388, MIM: 612577</li><li>I->V at 411, MIM: 612577</li><li>Y->C at 647, MIM: 612577</li><li>V->A at 654: in dbSNP:rs9885672, MIM: 612577</li><li>I->T at 902, MIM: 612577</li>								<li>Amyotrophic lateral sclerosis type 11 (ALS11) [MIM:612577]</li><li>Charcot-Marie-Tooth disease type 4J (CMT4J) [MIM:611228]</li>	<li>rs9885672</li><li>rs2295837</li>	2
Q92563	9806		<li>G->S at 353: in dbSNP:rs2306322</li>									rs2306322	2
Q92569			<li>K->N at 283: in dbSNP:rs785467</li>									rs785467	2
Q92574	7248		<li>E->D at 51: in TSC; could be a polymorphism, MIM: 191100</li><li>H->R at 68: in a bladder tumor; somatic mutation; reduced stability; does not affect interaction with TSC2, MIM: 191100</li><li>L->P at 72: in TSC, MIM: 191100</li><li>F->C at 158: in a bladder tumor; somatic mutation; reduced stability; does not affect interaction with TSC2, MIM: 191100</li><li>R->S at 190, MIM: 191100</li><li>L->H at 191: in TSC; could be a polymorphism, MIM: 191100</li><li>NF->I at 198-199: in TSC, MIM: 191100</li><li>H->D at 206: in a bladder tumor; somatic mutation; reduced stability; does not affect interaction with TSC2, MIM: 191100</li><li>F->L at 216: in a bladder tumor; diffuse punctate cytoplasmic distribution in aminoacid-starved conditions; does not affect interaction with TSC2, MIM: 191100</li><li>M->R at 224: in TSC; could be a polymorphism, MIM: 191100</li><li>M->T at 322: in dbSNP:rs1073123, MIM: 191100</li><li>T->I at 417: in TSC; could be a polymorphism; does not affect interaction with TSC2, MIM: 191100</li><li>R->Q at 500: in TSC, MIM: 191100</li><li>E->D at 577, MIM: 191100</li><li>CKIP->S at 586-589: in TSC, MIM: 191100</li><li>K->R at 587: in TSC; could be a polymorphism, MIM: 191100</li><li>Q->E at 654: in TSC, MIM: 191100</li><li>A->E at 726: in TSC, MIM: 191100</li><li>H->Y at 732: in FCDBC; could be a polymorphism, MIM: 607341</li><li>E->Q at 809, MIM: 607341</li><li>S->R at 829, MIM: 607341</li><li>T->S at 899: in TSC, MIM: 191100</li><li>G->S at 1035, MIM: 191100</li><li>G->S at 1108, MIM: 191100</li>							<li>Q92574</li><li>P55017</li><li>P49815</li><li>Q9JKL5</li><li>Q96BS2</li><li>P55019</li>	<li>Tuberous sclerosis complex (TSC) [MIM:191100]</li><li>Focal cortical dysplasia of Taylor balloon cell type (FCDBC) [MIM:607341]</li>	rs1073123	2
Q92575	23190		<li>S->R at 458: in dbSNP:rs2304602</li>									rs2304602	2
Q92576	23469		<li>V->I at 525: in dbSNP:rs34288820</li><li>H->Y at 1834: in dbSNP:rs3734881</li>									<li>rs34288820</li><li>rs3734881</li>	2
Q92583	6361		<li>K->N at 5: in dbSNP:rs34693308</li><li>V->M at 67: in dbSNP:rs34379253</li>									<li>rs34693308</li><li>rs34379253</li>	2
Q92585	9794		<li>S->N at 1007: in dbSNP:rs6895902</li>									rs6895902	2
Q92597	10397		<li>M->V at 67: in dbSNP:rs2233319</li><li>M->L at 111: in dbSNP:rs2233328</li>									<li>rs2233328</li><li>rs2233319</li>	2
Q92608	1794		<li>D->A at 1558: in dbSNP:rs13179480</li><li>S->T at 1746: in dbSNP:rs2270898</li><li>T->S at 1779: in dbSNP:rs2270898</li>									<li>rs2270898</li><li>rs13179480</li>	2
Q92609	9779		<li>I->V at 696: in dbSNP:rs1138454</li>									rs1138454	2
Q92610	9640		<li>S->N at 926: in dbSNP:rs8182086</li>									rs8182086	2
Q92618	9658		<li>N->S at 4: in dbSNP:rs3752097</li><li>G->S at 239: in dbSNP:rs12961584</li>									<li>rs3752097</li><li>rs12961584</li>	2
Q92619	23526		<li>R->H at 139: in allele HA-1H; induction of CTL recognition for epitope HA-1; dbSNP:rs1801284</li><li>E->D at 259: in dbSNP:rs2074442</li><li>S->G at 439: in dbSNP:rs7251797</li><li>M->I at 515: in dbSNP:rs36084354</li><li>A->P at 886: in dbSNP:rs34569196</li>							P41416		<li>rs34569196</li><li>rs2074442</li><li>rs7251797</li><li>rs1801284</li><li>rs36084354</li>	2
Q92620	9785		<li>T->A at 1217</li>										2
Q92621	23165		<li>P->S at 33: in dbSNP:rs7797639</li><li>Q->E at 1356: in dbSNP:rs7810767</li>									<li>rs7797639</li><li>rs7810767</li>	2
Q92624	10513		<li>S->N at 561: in dbSNP:rs34146848</li>									rs34146848	2
Q92625	23294		<li>A->D at 355: in dbSNP:rs6930932</li><li>L->S at 694: in dbSNP:rs820085</li>									<li>rs820085</li><li>rs6930932</li>	2
Q92626	7837		<li>R->Q at 1198: in dbSNP:rs6723697</li><li>Q->R at 1261: in dbSNP:rs6723697</li>									rs6723697	2
Q92629	6444		<li>R->Q at 96: in dbSNP:rs1801194</li><li>S->A at 150: in CMD1L, MIM: 606685</li><li>E->K at 261: in LGMD2F, MIM: 601287</li>								<li>Cardiomyopathy dilated type 1L (CMD1L) [MIM:606685]</li><li>Limb-girdle muscular dystrophy type 2F (LGMD2F) [MIM:601287]</li>	rs1801194	2
Q92630	8445		<li>S->G at 98: in dbSNP rsrs35139851</li><li>P->L at 198: in a glioblastoma multiforme sample; somatic mutation</li><li>H->N at 245: in dbSNP:rs34166200</li><li>N->S at 295: in dbSNP rsrs56293072</li><li>R->Q at 451: in dbSNP rsrs35688869</li><li>F->Y at 455: in dbSNP rsrs55774594</li>									<li>rs35139851</li><li>rs34166200</li><li>rs35688869</li><li>rs56293072</li><li>rs55774594</li>	2
Q92633	1902		<li>N->S at 77: in dbSNP:rs11542862</li>									rs11542862	2
Q92636	8439		<li>Y->C at 626: in dbSNP:rs2228505</li><li>R->T at 850: in dbSNP:rs1131173</li>									<li>rs2228505</li><li>rs1131173</li>	2
Q92664	2971		<li>V->L at 245: in dbSNP:rs7323</li>									rs7323	2
Q92665	10240		<li>T->M at 241: in dbSNP:rs1854421</li>									rs1854421	2
Q92667	8165		<li>A->V at 18: in dbSNP:rs17761023</li><li>V->M at 60: in dbSNP:rs2230770</li><li>C->Y at 102: in dbSNP:rs2230771</li><li>R->C at 124: in dbSNP:rs17833723</li>									<li>rs17833723</li><li>rs17761023</li><li>rs2230771</li><li>rs2230770</li>	2
Q92673	6653		<li>L->S at 120: in a breast cancer sample; somatic mutation</li><li>A->T at 528: in dbSNP:rs2298813</li><li>E->Q at 1074: in dbSNP:rs1699107</li><li>M->L at 1581: in a breast cancer sample; somatic mutation</li><li>I->V at 1967: in dbSNP:rs1792120</li><li>L->V at 1972: in a colorectal cancer sample; somatic mutation</li>									<li>rs2298813</li><li>rs1699107</li><li>rs1792120</li>	2
Q92681	6248		<li>F->L at 62: in dbSNP:rs3766163</li><li>C->W at 191: in dbSNP:rs34091519</li><li>N->S at 271: in dbSNP:rs3738648</li>									<li>rs3766163</li><li>rs34091519</li><li>rs3738648</li>	2
Q92685	10195		<li>I->V at 107: in dbSNP:rs2233463</li><li>G->D at 118: in CDG1D; dbSNP:rs28940588, MIM: 601110</li><li>R->Q at 171: in CDG1D, MIM: 601110</li>								Congenital disorder of glycosylation type 1D (CDG1D) [MIM:601110]	<li>rs2233463</li><li>rs28940588</li>	2
Q92696	5875		<li>T->A at 420: in dbSNP:rs729421</li>									rs729421	2
Q92729	10076	<ul><li>C->S at 1085: Loss of phosphatase activity toward CTNNB1. Loss of the inhibitory effect on CTNNB1 transcriptional activity without effect on interaction with CTNNB1; when associated with S-1380</li><li>C->S at 1380: No effect on phosphatase activity toward CTNNB1. Loss of the inhibitory effect on CTNNB1 transcriptional activity without effect on interaction with CTNNB1; when associated with S-1085</li></ul>	<li>T->N at 60: in dbSNP:rs35332573</li><li>R->L at 471: in dbSNP:rs35745442</li><li>H->Y at 830: in a colorectal cancer sample; somatic mutation</li><li>R->W at 835: in a colorectal cancer sample; somatic mutation</li><li>R->C at 856: in a colorectal cancer sample; somatic mutation</li><li>N->S at 940: in dbSNP:rs2235937</li>							<li>Q7M7K5</li><li>Q5X1E5</li><li>Q7MAZ9</li><li>Q8XBL4</li><li>Q7MBF4</li><li>Q5P3T0</li><li>Q88A53</li><li>Q5PC82</li><li>Q8Z3M9</li><li>Q821A6</li><li>Q5ZRX9</li><li>Q87SK9</li><li>P35222</li><li>Q9JZ88</li><li>Q9CP21</li><li>Q82U82</li><li>Q9I5V3</li><li>Q5F8K9</li><li>Q63YC3</li><li>Q8Y395</li><li>Q6LV05</li><li>Q8ZLY4</li><li>Q6FA38</li><li>Q9PDL7</li><li>Q62EU1</li><li>Q9JUB2</li><li>Q5WT58</li><li>Q665U9</li><li>Q57JQ5</li><li>Q9KPC6</li><li>Q8CWL6</li><li>Q8P5D4</li><li>Q8PPG9</li><li>P06961</li><li>P45269</li><li>Q88QU2</li><li>Q9L7A3</li><li>Q6D160</li><li>Q87DS9</li><li>Q60CQ4</li><li>Q8ZI64</li><li>Q65Q41</li><li>Q5E2K7</li><li>Q8CXX6</li>		<li>rs35745442</li><li>rs35332573</li><li>rs2235937</li>	3
Q92733	5546		<li>P->S at 136: in dbSNP:rs11264542</li>									rs11264542	2
Q92734	10342		<li>A->S at 149: in a colorectal cancer sample; somatic mutation</li><li>A->V at 211: in dbSNP:rs430945</li><li>T->P at 364: in dbSNP:rs6772054</li>									<li>rs430945</li><li>rs6772054</li>	2
Q92736			<li>P->S at 162: in CPVT1, MIM: 604772</li><li>R->Q at 174: in ARVD2 and CPVT1, MIM: 600996</li><li>R->L at 412: in CPVT1, MIM: 604772</li><li>I->F at 417: in CPVT1, MIM: 604772</li><li>R->W at 418: in CPVT1, MIM: 604772</li><li>L->P at 431: in ARVD2 and CPVT1, MIM: 600996</li><li>V->I at 505: in dbSNP:rs16835270, MIM: 600996</li><li>G->S at 1884: in dbSNP:rs3766871, MIM: 600996</li><li>S->L at 2244: in CPVT1, MIM: 604772</li><li>V->I at 2304: in CPVT1, MIM: 604772</li><li>E->D at 2309: in CPVT1, MIM: 604772</li><li>P->S at 2326: in FPVT, MIM: 192605</li><li>N->I at 2384: in ARVD2 and CPVT1, MIM: 600996</li><li>A->P at 2385: in CPVT1, MIM: 604772</li><li>Y->C at 2390: in CPVT1, MIM: 604772</li><li>A->T at 2401: in CPVT1, MIM: 604772</li><li>R->S at 2472: in CPVT1, MIM: 604772</li><li>T->M at 2502: in ARVD2 and CPVT1, MIM: 600996</li><li>Q->R at 2956: in dbSNP:rs34967813, MIM: 600996</li><li>L->F at 3776: in CPVT1, MIM: 604772</li><li>G->S at 3944: in CPVT1, MIM: 604772</li><li>N->S at 4095: in CPVT1, MIM: 604772</li><li>N->K at 4102: in CPVT1, MIM: 604772</li><li>E->K at 4144: in CPVT1, MIM: 604772</li><li>T->P at 4156: in CPVT1, MIM: 604772</li><li>Q->R at 4199: in FPVT, MIM: 192605</li><li>R->C at 4495: in CPVT1, MIM: 604772</li><li>F->C at 4497: in CPVT1, MIM: 604772</li><li>M->I at 4502: in CPVT1, MIM: 604772</li><li>A->T at 4508: in CPVT1, MIM: 604772</li><li>A->P at 4605: in CPVT1, MIM: 604772</li><li>V->F at 4651: in FPVT, MIM: 192605</li><li>G->R at 4669: in CPVT1, MIM: 604772</li><li>V->I at 4769: in CPVT1, MIM: 604772</li><li>I->V at 4846: in CPVT1, MIM: 604772</li><li>A->G at 4858: in CPVT1; diminishes the response to activation by luminal Ca, MIM: 604772</li><li>I->M at 4865: in CPVT1, MIM: 604772</li><li>V->A at 4878: in CPVT1, MIM: 604772</li><li>N->D at 4893: in CPVT1, MIM: 604772</li><li>P->L at 4900: in CPVT1, MIM: 604772</li><li>E->K at 4948: in CPVT1, MIM: 604772</li><li>R->Q at 4957: in CPVT1, MIM: 604772</li>								<li>Familial arrhythmogenic right ventricular dysplasia 2 (ARVD2) [MIM:600996]</li><li>Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]</li><li>Familial polymorphic ventricular tachycardia (FPVT) [MIM:192605]</li>	<li>rs3766871</li><li>rs16835270</li><li>rs34967813</li>	2
Q92750	6875		<li>I->V at 249: in dbSNP:rs16942219</li>									rs16942219	2
Q92752	7143		<li>V->I at 17: in dbSNP:rs859398</li><li>A->S at 128: in dbSNP:rs2239819</li><li>G->S at 293: in dbSNP:rs3752516</li><li>R->K at 643: in dbSNP:rs859427</li>									<li>rs859427</li><li>rs3752516</li><li>rs859398</li><li>rs2239819</li>	2
Q92759	2968		<li>R->Q at 337: in dbSNP:rs3218820</li>									rs3218820	2
Q92765	2487		<li>R->W at 200: in dbSNP:rs288326</li><li>R->G at 324: in hip OA susceptibility; has diminished ability to antagonize Wnt signaling, in vitro; dbSNP:rs7775</li>									<li>rs7775</li><li>rs288326</li>	2
Q92766	6239		<li>G->R at 195: in dbSNP:rs1334576</li><li>G->V at 783: in dbSNP:rs9502564</li><li>D->N at 1171: in dbSNP:rs9379084</li><li>G->R at 1384: in dbSNP:rs2281833</li><li>L->P at 1467: in dbSNP:rs2256596</li><li>S->Y at 1499: in dbSNP:rs35742417</li>									<li>rs1334576</li><li>rs35742417</li><li>rs2256596</li><li>rs9502564</li><li>rs2281833</li><li>rs9379084</li>	2
Q92769	3066		<li>R->C at 230: in dbSNP:rs1042903</li><li>Y->H at 315: in dbSNP:rs17852888</li>									<li>rs17852888</li><li>rs1042903</li>	2
Q92772	8999		<li>Y->S at 77: in dbSNP:rs35921414</li><li>L->I at 98: in an ovarian papillary serous adenocarcinoma sample; somatic mutation</li><li>I->T at 132: in dbSNP:rs17000707</li><li>R->Q at 149: in an ovarian mucinous carcinoma sample; somatic mutation</li><li>M->T at 197: in dbSNP rsrs56343717</li><li>A->V at 411: in dbSNP rsrs56231363</li>									<li>rs17000707</li><li>rs56231363</li><li>rs56343717</li><li>rs35921414</li>	2
Q92781	5959		<li>R->Q at 21: in dbSNP:rs3138143</li><li>I->V at 33</li><li>G->S at 35: in FA, MIM: 136880</li><li>R->G at 70: in dbSNP:rs1058635, MIM: 136880</li><li>S->F at 73: in FA, MIM: 136880</li><li>G->R at 107: in FA; associated with macular dystrophy, MIM: 136880</li><li>V->M at 132: in FA, MIM: 136880</li><li>V->F at 164: in FA, MIM: 136880</li><li>V->G at 177: in FA, MIM: 136880</li><li>G->W at 238: in FA, MIM: 136880</li><li>C->W at 267: in FA, MIM: 136880</li><li>R->H at 280: in FA, MIM: 136880</li><li>Y->H at 281: in FA, MIM: 136880</li><li>A->P at 294: in FA, MIM: 136880</li><li>L->EV at 310: in FA, MIM: 136880</li>								Fundus albipunctatus (FA) [MIM:136880]	<li>rs1058635</li><li>rs3138143</li>	2
Q92783	8027		<li>G->D at 212: in a colorectal cancer sample; somatic mutation</li>										2
Q92786	5629		<li>H->R at 584: in dbSNP:rs12121210</li>									rs12121210	2
Q92791	10609		<li>Q->R at 186: in dbSNP:rs13412</li>									rs13412	2
Q92793	1387		<li>Y->C at 1175: in RSTS; mild form; dbSNP:rs28937315, MIM: 180849</li><li>E->K at 1278: in RSTS; abolishes acetyltransferase activity, MIM: 180849</li><li>R->P at 1378: in RSTS; abolishes acetyltransferase activity and the ability of transactivate CREB, MIM: 180849</li><li>V->I at 1414: in dbSNP:rs130015, MIM: 180849</li><li>T->I at 1447: in RSTS, MIM: 180849</li><li>Y->H at 1450: in RSTS, MIM: 180849</li><li>H->R at 1470: in RSTS, MIM: 180849</li><li>R->H at 1664: in RSTS; abolishes acetyltransferase activity, MIM: 180849</li>							<li>P16966</li><li>P51984</li><li>P15337</li><li>P51985</li><li>P27925</li><li>Q01147</li><li>P16220</li>	Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	<li>rs28937315</li><li>rs130015</li>	2
Q92796	1741		<li>G->R at 40: in a colorectal cancer sample; somatic mutation</li>										2
Q92802	10443		<li>Y->H at 272: in dbSNP:rs34062461</li>									rs34062461	2
Q92806	3765		<li>A->V at 366: in dbSNP:rs3001040</li>									rs3001040	2
Q92813	1734		<li>A->D at 81: in dbSNP:rs2839859</li><li>T->A at 92: in dbSNP:rs225014</li>									<li>rs2839859</li><li>rs225014</li>	2
Q92817	2125		<li>N->S at 49: in dbSNP:rs570145</li><li>Q->R at 433: in dbSNP:rs2071192</li>									<li>rs2071192</li><li>rs570145</li>	2
Q92820	8836		<li>C->R at 6: in dbSNP:rs1800909</li><li>A->T at 31: in dbSNP:rs11545077</li><li>T->I at 151: in dbSNP:rs11545078</li>									<li>rs11545077</li><li>rs11545078</li><li>rs1800909</li>	2
Q92823	4897		<li>P->A at 545: in dbSNP:rs6958498</li><li>H->P at 1093: in a breast cancer sample; somatic mutation</li><li>G->V at 1116: in a breast cancer sample; somatic mutation</li>									rs6958498	2
Q92826	10481		<li>T->M at 41</li>										2
Q92828	7464		<li>R->H at 296: in dbSNP:rs2231666</li><li>R->L at 495: in dbSNP:rs35787916</li>									<li>rs2231666</li><li>rs35787916</li>	2
Q92832	4745		<li>Q->R at 82: in dbSNP:rs8176785</li><li>F->V at 211: in dbSNP:rs35809043</li><li>V->I at 287: in dbSNP:rs11820003</li><li>R->W at 354: in dbSNP:rs8176786</li><li>C->F at 553: in a colorectal cancer sample; somatic mutation</li>									<li>rs11820003</li><li>rs8176786</li><li>rs8176785</li><li>rs35809043</li>	2
Q92834	6103		<li>G->E at 43: in RP3, MIM: 300389</li><li>G->R at 43: in RP3, MIM: 300389</li><li>G->V at 60: in RP3, MIM: 300389</li><li>I->V at 75: in RP3; could be a polymorphism, MIM: 300389</li><li>S->I at 76: in dbSNP:rs1801685, MIM: 300389</li><li>H->Q at 98: in RP3, MIM: 300389</li><li>T->N at 99: in RP3, MIM: 300389</li><li>R->G at 127: in RP3, MIM: 300389</li><li>F->C at 130: in RP3, MIM: 300389</li><li>S->L at 152: in RP3, MIM: 300389</li><li>G->R at 173: in RP3 and RPDSI, MIM: 300455</li><li>Q->H at 184: in dbSNP:rs5963403, MIM: 300455</li><li>G->V at 215: in RP3, MIM: 300389</li><li>P->S at 235: in RP3, MIM: 300389</li><li>C->R at 250: in RP3, MIM: 300389</li><li>C->Y at 250: in RP3, MIM: 300389</li><li>Missing  at 258: in RP3, MIM: 300389</li><li>A->G at 262: in RP3; could be a polymorphism, MIM: 300389</li><li>G->E at 267: in RP3, MIM: 300389</li><li>G->R at 267: in RP3, MIM: 300389</li><li>G->S at 275: in RP3, MIM: 300389</li><li>E->G at 285: in RP3, MIM: 300389</li><li>I->V at 289: in RP3, MIM: 300389</li><li>Missing  at 296-300: in RP3, MIM: 300389</li><li>C->R at 302: in RP3, MIM: 300389</li><li>C->Y at 302: in RP3, MIM: 300389</li><li>D->N at 312: in RP3, MIM: 300389</li><li>D->Y at 312: in RP3, MIM: 300389</li><li>G->R at 320: in RP3, MIM: 300389</li><li>N->D at 345: rare polymorphism; dbSNP:rs41305223, MIM: 300389</li><li>R->K at 425: in dbSNP:rs1801687, MIM: 300389</li><li>I->V at 431, MIM: 300389</li><li>G->D at 436: in RP3, MIM: 300389</li><li>Missing at 526, MIM: 300389</li><li>T->M at 533: in dbSNP:rs41312104, MIM: 300389</li><li>G->E at 566: in dbSNP:rs1801688, MIM: 300389</li>							<li>Q9UPY8</li><li>Q6PER3</li><li>Q92834</li><li>Q5XIT1</li>	<li>Retinitis pigmentosa type 3 (RP3) [MIM:300389]</li><li>X-linked retinitis pigmentosa with deafness and sinorespiratory infections (RPDSI) [MIM:300455]</li>	<li>rs1801685</li><li>rs41305223</li><li>rs1801687</li><li>rs1801688</li><li>rs41312104</li><li>rs5963403</li>	2
Q92835	3635		<li>V->E at 685: in one patient with acute myeloid leukemya; somatic mutation</li>										2
Q92839	3036		<li>C->R at 14: in dbSNP:rs7248778</li>									rs7248778	2
Q92843	599		<li>R->Q at 133: in dbSNP:rs910332</li>									rs910332	2
Q92845	22920		<li>S->A at 513: in dbSNP:rs12075833</li>									rs12075833	2
Q92847	2693		<li>T->I at 5: in dbSNP:rs2232165</li><li>A->E at 204: in short stature; idiopathic autosomal; affects cell-surface expression; impairs constitutive activity but not the ability to respond to ghrelin, MIM: 604271</li>					cell-surface	GO:0009928,GO:0009986	<li>Q9EQX0</li><li>Q9BDJ6</li><li>Q6BEG6</li><li>Q9UBU3</li><li>Q9BEF8</li><li>Q6BEG7</li><li>Q9QYH7</li><li>Q9GKY5</li>	Short stature [MIM:604271]	rs2232165	2
Q92854	10507		<li>A->T at 72: in dbSNP:rs13284404</li>									rs13284404	2
Q92858	474		<li>H->Q at 237: in dbSNP:rs35182771</li>									rs35182771	2
Q92859	4756		<li>P->L at 534: in dbSNP:rs4467039</li>									rs4467039	2
Q92882	26578		<li>N->S at 48: in dbSNP:rs2295862</li><li>L->F at 159: in dbSNP:rs17850197</li>									<li>rs2295862</li><li>rs17850197</li>	2
Q92888	9138		<li>M->V at 165: in a colorectal cancer sample; somatic mutation</li><li>P->L at 375: in dbSNP:rs2303797</li>									rs2303797	2
Q92889	2072		<li>R->P at 153: in XFE progeroid syndrome, MIM: 610965</li><li>A->V at 168: in dbSNP:rs2020961, MIM: 610965</li><li>I->M at 225: in XP-F, MIM: 278760</li><li>P->S at 379: in dbSNP:rs1799802, MIM: 278760</li><li>R->Q at 415: in dbSNP:rs1800067, MIM: 278760</li><li>R->W at 454: in XP-F, MIM: 278760</li><li>R->Q at 490: in XP-F, MIM: 278760</li><li>E->K at 502: in XP-F, MIM: 278760</li><li>G->R at 513: in XP-F, MIM: 278760</li><li>I->T at 529: in XP-F, MIM: 278760</li><li>T->A at 567: in XP-F, MIM: 278760</li><li>R->T at 576: in dbSNP:rs1800068, MIM: 278760</li><li>Missing  at 605-611: in XP-F, MIM: 278760</li><li>L->P at 608: in XP-F, MIM: 278760</li><li>S->P at 662: in dbSNP:rs2020955, MIM: 278760</li><li>G->D at 703, MIM: 278760</li><li>I->T at 706: in dbSNP:rs1800069, MIM: 278760</li><li>I->T at 717, MIM: 278760</li><li>R->W at 799: in XP-F; mild; significant residual repair activity, MIM: 278760</li><li>I->V at 873: in dbSNP rsrs2020957, MIM: 278760</li><li>E->G at 875: in dbSNP:rs1800124, MIM: 278760</li><li>G->E at 912: in dbSNP:rs2020956, MIM: 278760</li>								<li>XFE progeroid syndrome [MIM:610965]</li><li>Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]</li>	<li>rs1800069</li><li>rs1800068</li><li>rs1800067</li><li>rs1799802</li><li>rs2020961</li><li>rs1800124</li><li>rs2020956</li><li>rs2020955</li><li>rs2020957</li>	2
Q92890	7353		<li>P->A at 130: in dbSNP:rs17744624</li>									rs17744624	2
Q92901	6123		<li>P->L at 291: in dbSNP:rs34265469</li>									rs34265469	2
Q92902	3257		<li>Missing  at 55: in HPS1; mild</li><li>E->D at 100: in dbSNP:rs1801285</li><li>A->V at 186: in dbSNP:rs1801286</li><li>G->W at 283: in dbSNP:rs11592273</li><li>A->T at 480: in dbSNP:rs17109853</li><li>P->R at 491: in dbSNP:rs2296434</li><li>Q->R at 603: in dbSNP:rs2296436</li><li>V->I at 630</li>							<li>Q60HF3</li><li>Q92902</li>		<li>rs17109853</li><li>rs2296436</li><li>rs2296434</li><li>rs11592273</li><li>rs1801286</li><li>rs1801285</li>	2
Q92903	1040		<li>L->F at 99: in dbSNP:rs36068434</li><li>K->T at 204: in a breast cancer sample; somatic mutation</li>									rs36068434	2
Q92904	1618		<li>T->A at 12: common polymorphism; dbSNP:rs11710967</li><li>T->A at 54: in AZ; in some infertile Taiwanese men; this substitution may lead to affect the DAZL transcript stability and prevent its translation</li>	translation	GO:0043037					<li>Q92904</li><li>Q95192</li><li>Q804A9</li><li>Q9BGN8</li>		rs11710967	2
Q92911	6528		<li>G->R at 93: in CHDH1, MIM: 274400</li><li>A->P at 102, MIM: 274400</li><li>Q->E at 267: in CHDH1, MIM: 274400</li><li>C->G at 298: in dbSNP:rs8108188, MIM: 274400</li><li>T->P at 354: in CHDH1, MIM: 274400</li><li>G->R at 395: in CHDH1, MIM: 274400</li><li>T->Q at 536: requires 2 nucleotide substitutions, MIM: 274400</li><li>G->E at 543: in CHDH1, MIM: 274400</li><li>S->Q at 556: requires 2 nucleotide substitutions, MIM: 274400</li>								Congenital hypothyroidism due to dyshormonogenesis type 1 (CHDH1) [MIM:274400]	rs8108188	2
Q92913	2258		<li>K->Q at 197: in dbSNP rsrs17510270</li>									rs17510270	2
Q92914	2256		<li>R->G at 163</li>										2
Q92915	2259		<li>G->C at 42</li><li>F->S at 145: in SCA27, MIM: 609307</li>								Spinocerebellar ataxia type 27 (SCA27) [MIM:609307]		2
Q92918	11184		<li>P->T at 312: in dbSNP rsrs55924696</li><li>P->S at 351: in dbSNP rsrs34591617</li><li>P->L at 361: in dbSNP rsrs56060067</li><li>S->F at 737: in a metastatic melanoma sample; somatic mutation</li><li>N->S at 811: in dbSNP:rs12975825</li>									<li>rs55924696</li><li>rs56060067</li><li>rs12975825</li><li>rs34591617</li>	2
Q92922	6599		<li>P->H at 1075: in dbSNP:rs3772406</li>									rs3772406	2
Q92934	572		<li>A->S at 107: in dbSNP:rs3729933</li>									rs3729933	2
Q92935	2134		<li>R->H at 163: in dbSNP:rs34277678</li><li>H->N at 379: in dbSNP:rs2736831</li>									<li>rs34277678</li><li>rs2736831</li>	2
Q92953	9312		<li>V->I at 450: in a colorectal cancer sample; somatic mutation</li><li>E->G at 657: in dbSNP:rs16938507</li>									rs16938507	2
Q92954	10216		<li>R->W at 180: in dbSNP:rs2273779</li><li>N->S at 1130: in dbSNP:rs10158395</li><li>I->T at 1272: in dbSNP:rs1293985</li><li>T->M at 1296: in dbSNP:rs12134934</li>									<li>rs1293985</li><li>rs10158395</li><li>rs12134934</li><li>rs2273779</li>	2
Q92956	8764		<li>K->R at 17: in dbSNP:rs4870</li><li>A->T at 117: in dbSNP:rs2234163</li><li>G->E at 174: in dbSNP:rs11573986</li><li>V->I at 241: in dbSNP:rs2234167</li>									<li>rs11573986</li><li>rs2234163</li><li>rs4870</li><li>rs2234167</li>	2
Q92959	6578		<li>A->T at 396: in dbSNP:rs34550074</li>									rs34550074	2
Q92966	6619		<li>E->A at 398: in dbSNP:rs3087653</li>									rs3087653	2
Q92968	5194		<li>I->T at 326: in NALD, MIM: 202370</li>								Adrenoleukodystrophy neonatal (NALD) [MIM:202370]		2
Q92973	3842		<li>D->E at 26: in dbSNP:rs25661</li>									rs25661	2
Q92979	10436		<li>A->G at 34: in dbSNP:rs11064480</li>									rs11064480	2
Q92982	4814		<li>D->A at 110: in dbSNP:rs2275848</li>									rs2275848	2
Q92985	3665		<li>K->E at 179: in dbSNP:rs1061502</li><li>Q->R at 412: in dbSNP:rs1131665</li>									<li>rs1061502</li><li>rs1131665</li>	2
Q92994	2972		<li>V->M at 542: in a colorectal cancer sample; somatic mutation</li>										2
Q92997	1857		<li>R->T at 216: in a breast cancer sample; somatic mutation</li><li>W->L at 433: in dbSNP:rs17853048</li>									rs17853048	2
Q93015	24142		<li>R->S at 145: in non-small cell lung cancer cell lines</li><li>T->S at 207: in non-small cell lung cancer cell lines</li>										2
Q93033	9398		<li>G->S at 157: in dbSNP:rs34999087</li><li>N->S at 225: in dbSNP:rs3754112</li><li>M->V at 415: in dbSNP:rs2249265</li><li>R->Q at 518: in dbSNP:rs17235766</li><li>S->R at 525: in dbSNP:rs17235773</li><li>T->S at 631: in dbSNP:rs34510762</li><li>R->Q at 933: in dbSNP:rs12093834</li><li>L->F at 955: in dbSNP:rs34223095</li><li>V->I at 965: in dbSNP:rs12097758</li><li>R->C at 988: in dbSNP:rs12067543</li><li>R->W at 992: in dbSNP:rs34248572</li>									<li>rs34223095</li><li>rs34510762</li><li>rs3754112</li><li>rs17235773</li><li>rs2249265</li><li>rs12067543</li><li>rs12097758</li><li>rs12093834</li><li>rs17235766</li><li>rs34999087</li><li>rs34248572</li>	2
Q93063	2132		<li>M->V at 42: in dbSNP:rs4755779</li><li>C->R at 85: in EXT2, MIM: 133701</li><li>L->R at 152: in EXT2, MIM: 133701</li><li>R->S at 179: in EXT2, MIM: 133701</li><li>A->V at 202: in EXT2, MIM: 133701</li><li>R->P at 223: in EXT2, MIM: 133701</li><li>D->N at 227: in EXT2; can still form an oligomeric complex, MIM: 133701</li><li>I->T at 380: in EXT2, MIM: 133701</li><li>E->K at 576: in osteochondroma, MIM: 133701</li>							<li>O77783</li><li>Q9M1G9</li><li>Q93063</li>	Hereditary multiple exostoses type 2 (EXT2) [MIM:133701]	rs4755779	2
Q93070	420		<li>G->V at 108: in Hy1 and Hy2: in dbSNP rsrs28362797</li><li>T->I at 117: in Jo: in dbSNP rsrs28362798</li><li>D->E at 135: in dbSNP rsrs28362799</li><li>T->M at 189: in dbSNP rsrs28362800</li><li>N->D at 265: in Do: in dbSNP rsrs11276</li><li>L->V at 300: in Hy1: in dbSNP rsrs3088190</li>									<li>rs11276</li><li>rs28362799</li><li>rs28362800</li><li>rs28362798</li><li>rs28362797</li><li>rs3088190</li>	2
Q93074	9968		<li>R->W at 961: in OKS, MIM: 305450</li><li>N->S at 1007: in Lujan-Fryns syndrome, MIM: 309520</li><li>Q->R at 1392: in dbSNP:rs1139013, MIM: 309520</li>								<li>Lujan-Fryns syndrome [MIM:309520]</li><li>Opitz-Kaveggia syndrome (OKS) [MIM:305450]</li>	rs1139013	2
Q93075	9797		<li>H->R at 217: in dbSNP:rs2241314</li><li>V->I at 256: in dbSNP:rs394558</li><li>P->L at 358: in dbSNP:rs2075352</li>									<li>rs2241314</li><li>rs394558</li><li>rs2075352</li>	2
Q93084	489		<li>R->H at 674: in a breast cancer sample; somatic mutation</li><li>Q->H at 869: in dbSNP:rs11654827</li>									rs11654827	2
Q93088	635		<li>R->Q at 239: may decrease risk for coronary artery disease; dbSNP:rs3733890</li>									rs3733890	2
Q93091	6039		<li>R->Q at 89: in dbSNP:rs1045922</li>									rs1045922	2
Q93098	7479		<li>C->S at 11: in dbSNP:rs3793771</li><li>E->Q at 53: in a colorectal cancer sample; somatic mutation</li>									rs3793771	2
Q93099	3081		<li>L->P at 25: in AKU, MIM: 203500</li><li>E->A at 42: in AKU, MIM: 203500</li><li>W->G at 60: in AKU, MIM: 203500</li><li>Y->C at 62: in AKU, MIM: 203500</li><li>H->Q at 80: in dbSNP:rs2255543, MIM: 203500</li><li>W->G at 97: in AKU, MIM: 203500</li><li>A->D at 122: in AKU, MIM: 203500</li><li>D->G at 153: in AKU, MIM: 203500</li><li>G->R at 161: in AKU; loss of activity; most prevalent mutation in Slovak and Czech patients: in dbSNP rsrs28941783, MIM: 203500</li><li>E->K at 168: in AKU; loss of activity, MIM: 203500</li><li>S->I at 189: in AKU, MIM: 203500</li><li>I->T at 216: in AKU, MIM: 203500</li><li>R->H at 225: in AKU, MIM: 203500</li><li>F->S at 227: in AKU, MIM: 203500</li><li>P->S at 230: in AKU; complete loss of activity: in dbSNP rsrs28942100, MIM: 203500</li><li>P->T at 230: in AKU, MIM: 203500</li><li>G->R at 270: in AKU, MIM: 203500</li><li>D->E at 291: in AKU, MIM: 203500</li><li>V->G at 300: in AKU, MIM: 203500</li><li>R->S at 330: in AKU, MIM: 203500</li><li>M->V at 368: in AKU; loss of activity, MIM: 203500</li><li>H->R at 371: in AKU, MIM: 203500</li>								Alkaptonuria (AKU) [MIM:203500]	<li>rs28942100</li><li>rs28941783</li><li>rs2255543</li>	2
Q93100	5257		<li>A->P at 118: in GSD9B, MIM: 261750</li><li>Q->K at 657: in dbSNP rsrs34667348, MIM: 261750</li><li>Y->C at 770: in dbSNP:rs16945474, MIM: 261750</li><li>E->V at 820: in dbSNP:rs9934849, MIM: 261750</li><li>L->V at 867: in a breast cancer sample; somatic mutation, MIM: 261750</li><li>G->R at 877: in a breast cancer sample; somatic mutation, MIM: 261750</li>								Glycogen storage disease type 9B (GSD9B) [MIM:261750]	<li>rs34667348</li><li>rs16945474</li><li>rs9934849</li>	2
Q95365			<li>S->A at 35: in allele B*3805</li><li>E->T at 69: in allele B*3806 and allele B*3807; requires 2 nucleotide substitutions</li><li>E->G at 82: in allele B*3807</li><li>N->E at 87: in allele B*3803 and allele B*3804; requires 2 nucleotide substitutions</li><li>C->F at 91: in allele B*3806 and allele B*3807</li><li>C->S at 91: in allele B*3803</li><li>Y->D at 98: in allele B*3803</li><li>N->S at 101: in allele B*3803</li><li>I->T at 104: in allele B*3802, allele B*3803, allele B*3804 and allele B*3808</li><li>T->M at 187: in allele B*3808</li>										2
Q95604			<li>QA->RT at 7-8: in allele Cw*1702</li><li>L->I at 10: in allele Cw*1702</li><li>A->T at 24: in allele Cw*1703</li>										2
Q969F0	89885		<li>A->V at 10: common polymorphism; 16% of the population; infertile and fertile individuals; dbSNP:rs3810715</li><li>I->T at 34: in fertile and infertile individuals</li><li>S->R at 125: in fertile and infertile individuals</li>									rs3810715	2
Q969F8	84634		<li>L->P at 102: in IHH; absence of inositol phosphate accumulation under kisspeptin challenge; normal affinity for kisspeptin, MIM: 146110</li><li>L->S at 148: in IHH; 65% reduction of inositol phosphate production; dbSNP:rs28939719, MIM: 146110</li><li>C->R at 223: in IHH; exhibit profoundly impaired signaling, MIM: 146110</li><li>R->L at 297: in IHH; mild reduction in ligand-stimulated activity across the ligand dose range, MIM: 146110</li><li>L->H at 364: in dbSNP:rs350132, MIM: 146110</li><li>R->P at 386: in central precocious puberty; reduced rate of decline in inositol phosphate accumulation after kisspeptin stimulation; prolonged phosphorylation of ERK, MIM: 176400</li>	phosphorylation	GO:0016310					<li>Q98938</li><li>P79860</li><li>P79871</li><li>Q14623</li><li>P79866</li><li>O13220</li><li>O13240</li><li>P79852</li><li>O13215</li><li>P79719</li><li>O13243</li><li>P97812</li><li>P79711</li><li>P29323</li><li>Q91612</li><li>P79693</li>	<li>Central precocious puberty [MIM:176400]</li><li>Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]</li>	<li>rs350132</li><li>rs28939719</li>	2
Q969F9	84343		<li>E->K at 275: in dbSNP:rs34388030</li><li>R->Q at 397: in a colorectal cancer sample; somatic mutation</li><li>R->W at 397: in HPS3; mild, MIM: 203300</li>							Q969F9	Hermansky-Pudlak syndrome type 3 (HPS3) [MIM:203300]	rs34388030	2
Q969G2	89884		<li>N->S at 328: in dbSNP:rs7536561</li>									rs7536561	2
Q969G5	112464		<li>P->R at 8: in dbSNP:rs2682123</li><li>A->T at 104: in dbSNP:rs10839551</li><li>P->L at 158: in dbSNP:rs1051992</li><li>L->F at 255: in dbSNP:rs12294600</li>									<li>rs10839551</li><li>rs2682123</li><li>rs1051992</li><li>rs12294600</li>	2
Q969H0	55294		<li>E->K at 115: in dbSNP:rs6816935</li><li>E->K at 117: in a breast cancer sample; somatic mutation</li><li>R->G at 133: in dbSNP:rs6842544</li><li>T->R at 144: in dbSNP:rs7660281</li><li>R->C at 465: in a acute lymphoblastic leukemia cell line</li><li>R->H at 465: in a colorectal cancer sample; somatic mutation</li><li>R->L at 505: in an ovarian cancer cell line</li><li>S->L at 582: in a colorectal cancer sample; somatic mutation</li><li>S->G at 668: in dbSNP:rs7679116</li>									<li>rs7679116</li><li>rs6842544</li><li>rs7660281</li><li>rs6816935</li>	2
Q969H9	116093		<li>S->A at 51</li>										2
Q969I6	55089		<li>G->R at 29: in dbSNP:rs2429467</li><li>T->M at 366: in dbSNP:rs11183610</li>									<li>rs2429467</li><li>rs11183610</li>	2
Q969J3	118426		<li>S->C at 41: in dbSNP:rs3741795</li><li>D->N at 191: in dbSNP:rs3751262</li>									<li>rs3751262</li><li>rs3741795</li>	2
Q969J5	116379		<li>L->P at 16: in dbSNP:rs28385692</li><li>E->K at 190: in dbSNP rsrs28362173</li>									<li>rs28362173</li><li>rs28385692</li>	2
Q969K7	113452		<li>L->F at 110: in dbSNP:rs10914632</li>									rs10914632	2
Q969L2	114569		<li>A->T at 92: in dbSNP:rs2303398</li>									rs2303398	2
Q969M1	84134		<li>D->N at 100: in a colorectal cancer sample; somatic mutation</li>										2
Q969N4	83551		<li>S->N at 153: in dbSNP:rs8192626</li><li>D->A at 328: in dbSNP:rs8192627</li>									<li>rs8192627</li><li>rs8192626</li>	2
Q969P5	114907		<li>N->S at 56: in dbSNP:rs6988591</li><li>G->A at 89: in dbSNP:rs11786471</li>									<li>rs11786471</li><li>rs6988591</li>	2
Q969P6	116447		<li>V->I at 256: in dbSNP:rs11544484</li><li>R->W at 525: in dbSNP:rs2293925</li>									<li>rs2293925</li><li>rs11544484</li>	2
Q969Q0	6166		<li>I->V at 66: in dbSNP:rs3088024</li>									rs3088024	2
Q969Q4	115761		<li>S->L at 22</li><li>L->M at 120: in dbSNP:rs35712316</li><li>P->L at 131</li><li>C->R at 148: in dbSNP:rs3803185</li><li>E->K at 164</li>									<li>rs35712316</li><li>rs3803185</li>	2
Q969R2	23762		<li>M->V at 760: in dbSNP:rs34240867</li>									rs34240867	2
Q969R5	83746		<li>I->V at 7: in dbSNP:rs3804097</li><li>R->W at 300: in dbSNP:rs2277846</li>									<li>rs3804097</li><li>rs2277846</li>	2
Q969S9	84340		<li>N->S at 64: in dbSNP:rs957680</li><li>S->C at 300: in dbSNP:rs16872235</li><li>R->Q at 774: in dbSNP:rs1048167</li>									<li>rs957680</li><li>rs16872235</li><li>rs1048167</li>	2
Q969T3	90203		<li>A->T at 154: in dbSNP:rs4638862</li>									rs4638862	2
Q969T7	115024		<li>V->A at 201: in dbSNP:rs1046403</li><li>C->S at 205: in dbSNP:rs1046404</li>									<li>rs1046404</li><li>rs1046403</li>	2
Q969U6	54461		<li>E->K at 340: in dbSNP:rs7850438</li>									rs7850438	2
Q969V1	84539		<li>R->K at 63: no changes in receptor binding or functional signaling</li><li>R->Q at 152: no changes in receptor binding or functional signaling</li>			receptor binding	GO:0005102						2
Q969V3	56926		<li>E->D at 214: in dbSNP:rs11671067</li><li>K->R at 551: in dbSNP:rs2288949</li>									<li>rs2288949</li><li>rs11671067</li>	2
Q969V4	83659		<li>I->V at 146: in dbSNP:rs34431552</li><li>R->C at 254: in dbSNP:rs3744395</li><li>V->I at 332: in dbSNP:rs2271233</li>									<li>rs34431552</li><li>rs3744395</li><li>rs2271233</li>	2
Q969V6	57591		<li>S->G at 648: in dbSNP:rs878756</li>									rs878756	2
Q969X1	64114		<li>P->L at 21: in dbSNP:rs2292553</li>									rs2292553	2
Q969X6	84916		<li>R->H at 438: in dbSNP:rs8056684</li><li>R->W at 565: in NAIC, MIM: 604901</li>								North American Indian childhood cirrhosis (NAIC) [MIM:604901]	rs8056684	2
Q969Y0	91775		<li>T->I at 507: in dbSNP:rs3796277</li>									rs3796277	2
Q969Y2	84705		<li>A->V at 250: in dbSNP:rs3810206</li><li>R->H at 368: in dbSNP:rs3745193</li>									<li>rs3745193</li><li>rs3810206</li>	2
Q969Z0	9238		<li>A->S at 22: in dbSNP:rs2304694</li><li>P->L at 57: in dbSNP:rs2304693</li>									<li>rs2304693</li><li>rs2304694</li>	2
Q969Z3	54996		<li>G->S at 244: in dbSNP:rs3795535</li>									rs3795535	2
Q969Z4	84957		<li>A->V at 332: in dbSNP:rs12362779</li>									rs12362779	2
Q96A11	89792		<li>A->D at 221: in dbSNP:rs35285455</li><li>E->A at 410: in dbSNP:rs4565902</li>									<li>rs4565902</li><li>rs35285455</li>	2
Q96A22	91894		<li>T->R at 23: in dbSNP:rs7124407</li>									rs7124407	2
Q96A26	26355		<li>A->V at 50: in dbSNP:rs17850692</li>									rs17850692	2
Q96A28	89886		<li>V->M at 86: in dbSNP:rs34540580</li><li>L->I at 127: in dbSNP:rs2789417</li><li>D->H at 164: in dbSNP:rs35438196</li><li>E->K at 181: in dbSNP:rs34884993</li>									<li>rs34884993</li><li>rs34540580</li><li>rs35438196</li><li>rs2789417</li>	2
Q96A29	55343		<li>R->C at 147: in CDG2C: in dbSNP rsrs28939087, MIM: 266265</li><li>T->R at 308: in CDG2C: in dbSNP rsrs28937886, MIM: 266265</li>								Congenital disorder of glycosylation type 2C (CDG2C) [MIM:266265]	<li>rs28937886</li><li>rs28939087</li>	2
Q96A40	84968		<li>C->Y at 152: in dbSNP:rs3810657</li>									rs3810657	2
Q96A56	94241		<li>C->R at 75: in dbSNP:rs11991800</li>									rs11991800	2
Q96A59	91862		<li>E->K at 60: in dbSNP:rs4788821</li>									rs4788821	2
Q96A65	60412		<li>S->F at 220: in a colorectal cancer sample; somatic mutation</li><li>A->T at 599: in a colorectal cancer sample; somatic mutation</li>										2
Q96A70	113451		<li>A->S at 288: in dbSNP:rs16835244</li>									rs16835244	2
Q96A72	55110		<li>E->K at 119: in a breast cancer sample; somatic mutation</li>										2
Q96A84	129080		<li>A->G at 107: in dbSNP:rs743920</li>									rs743920	2
Q96A99			<li>R->W at 92: in dbSNP:rs2745101</li><li>R->G at 220: in dbSNP:rs2667673</li><li>R->Q at 234: in dbSNP:rs12445920</li><li>R->K at 281: in dbSNP:rs2745098</li><li>A->S at 317: in dbSNP:rs13332460</li>									<li>rs2745098</li><li>rs13332460</li><li>rs12445920</li><li>rs2745101</li><li>rs2667673</li>	2
Q96AA3	91869		<li>R->C at 67: in CDG1N, MIM: 612015</li><li>A->T at 185: in dbSNP:rs35221142, MIM: 612015</li>								Congenital disorder of glycosylation type 1N (CDG1N) [MIM:612015]	rs35221142	2
Q96AA8	9832		<li>V->I at 106: in dbSNP:rs3749736</li><li>R->C at 315: in a colorectal cancer sample; somatic mutation</li>									rs3749736	2
Q96AB6	123803		<li>H->N at 283: in dbSNP:rs1136001</li><li>S->P at 287: in dbSNP:rs1135999</li>									<li>rs1135999</li><li>rs1136001</li>	2
Q96AC6	90990		<li>G->E at 67: in dbSNP:rs35817880</li><li>S->F at 166: in dbSNP:rs12675537</li>									<li>rs12675537</li><li>rs35817880</li>	2
Q96AE4	8880		<li>I->K at 399: in dbSNP:rs12748509</li>									rs12748509	2
Q96AE7	55761		<li>I->L at 145: in dbSNP:rs12099204</li><li>N->H at 270: in dbSNP:rs16937479</li>									<li>rs16937479</li><li>rs12099204</li>	2
Q96AH0	64859		<li>T->S at 154: in dbSNP:rs12612256</li>									rs12612256	2
Q96AJ1	23059		<li>A->S at 68: in dbSNP:rs34115694</li><li>R->W at 401: in dbSNP:rs9790</li>									<li>rs9790</li><li>rs34115694</li>	2
Q96AN5	55260		<li>D->N at 143: in dbSNP:rs34488893</li>									rs34488893	2
Q96AP4	221302		<li>N->D at 379: in dbSNP:rs4946188</li>									rs4946188	2
Q96AP7	90952		<li>R->C at 273: in dbSNP:rs12792040</li>									rs12792040	2
Q96AQ1	90557		<li>G->R at 302: in dbSNP:rs13660</li>									rs13660	2
Q96AQ2	128218		<li>R->L at 107: in a breast cancer sample; somatic mutation</li><li>A->D at 112: in dbSNP:rs35880191</li>									rs35880191	2
Q96AQ8	63933		<li>S->G at 108: in dbSNP:rs1204145</li><li>T->A at 216: in dbSNP:rs3180196</li>									<li>rs3180196</li><li>rs1204145</li>	2
Q96AQ9	348487		<li>K->E at 48: in dbSNP:rs2863458</li><li>R->Q at 107: in dbSNP:rs11557063</li><li>P->R at 123: in dbSNP:rs11576236</li><li>S->I at 215: in dbSNP:rs1832151</li><li>E->D at 226: in dbSNP:rs17853749</li>									<li>rs17853749</li><li>rs2863458</li><li>rs11576236</li><li>rs11557063</li><li>rs1832151</li>	2
Q96AT1	57456		<li>I->M at 139: in dbSNP:rs3853404</li>									rs3853404	2
Q96AX1	65082		<li>I->L at 256: in dbSNP:rs34996966</li>									rs34996966	2
Q96AX2	326624		<li>A->P at 188: in dbSNP:rs34215331</li>									rs34215331	2
Q96AX9	142678		<li>F->L at 15: in dbSNP:rs7418389</li><li>M->T at 45: in dbSNP:rs12755088</li>									<li>rs7418389</li><li>rs12755088</li>	2
Q96AY2	146956		<li>I->V at 49: in dbSNP:rs9896405</li><li>E->D at 69: in dbSNP:rs3760413</li><li>I->T at 350: in dbSNP:rs12450550</li>									<li>rs12450550</li><li>rs3760413</li><li>rs9896405</li>	2
Q96AY3	60681		<li>K->R at 197: in dbSNP:rs34764749</li>									rs34764749	2
Q96AZ1	25895		<li>S->L at 28: in dbSNP:rs34913183</li>									rs34913183	2
Q96B21	120224		<li>T->I at 59: in dbSNP:rs558813</li>									rs558813	2
Q96B23	147339		<li>S->SA at 313: in dbSNP:rs34068795 and dbSNP:rs59370768</li>									rs34068795 and dbSNP:rs59370768	2
Q96B36	84335		<li>A->P at 47: in dbSNP:rs17850191</li>									rs17850191	2
Q96B70	94059		<li>H->R at 131: in dbSNP:rs10406453</li><li>R->P at 477: in dbSNP:rs10423424</li>									<li>rs10406453</li><li>rs10423424</li>	2
Q96B96	57146		<li>G->S at 107: in dbSNP:rs1046480</li><li>D->E at 154: in dbSNP:rs1063087</li>									<li>rs1063087</li><li>rs1046480</li>	2
Q96B97	30011		<li>P->L at 382</li>										2
Q96BD0	28231		<li>R->Q at 70: in dbSNP:rs34419428</li><li>V->I at 78: in dbSNP:rs1047099</li>									<li>rs1047099</li><li>rs34419428</li>	2
Q96BD5	51317		<li>R->H at 347: in dbSNP:rs3736508</li>									rs3736508	2
Q96BD8	220134		<li>V->I at 91: in dbSNP:rs6507992</li>									rs6507992	2
Q96BF3	126259		<li>A->P at 202: in dbSNP:rs28477168</li>									rs28477168	2
Q96BH3	64100		<li>C->W at 100: in dbSNP:rs3745751</li><li>D->N at 170: in dbSNP:rs35362679</li><li>K->E at 199: in dbSNP:rs2303690</li><li>D->N at 215: in dbSNP:rs6509358</li>									<li>rs6509358</li><li>rs35362679</li><li>rs3745751</li><li>rs2303690</li>	2
Q96BI1	5002		<li>R->C at 70: in RMS1, MIM: 268210</li><li>S->F at 217: in lung cancer; somatic mutation, MIM: 211980</li><li>R->Q at 293, MIM: 211980</li>							Q12504	<li>Lung cancer [MIM:211980]</li><li>Rhabdomyosarcoma type 1 (RMS1) [MIM:268210]</li>		2
Q96BK5	54984		<li>Q->H at 206: in dbSNP:rs35530857</li><li>R->I at 215: in dbSNP:rs17855458</li><li>T->A at 220: in dbSNP:rs17711777</li><li>S->C at 254: in dbSNP:rs1078543</li><li>E->A at 315: in dbSNP:rs34656824</li>									<li>rs1078543</li><li>rs34656824</li><li>rs35530857</li><li>rs17855458</li><li>rs17711777</li>	2
Q96BN2	117143		<li>R->Q at 198: in dbSNP:rs2272792</li>									rs2272792	2
Q96BN8	90268		<li>M->L at 155: in dbSNP:rs11953822</li><li>S->N at 227: in dbSNP:rs9312870</li><li>N->S at 311: in dbSNP:rs9312870</li>									<li>rs9312870</li><li>rs11953822</li>	2
Q96BQ1	131177		<li>P->S at 60: in dbSNP:rs17059569</li><li>A->S at 118: in dbSNP:rs33966924</li>									<li>rs33966924</li><li>rs17059569</li>	2
Q96BQ5	133957		<li>R->H at 60: in dbSNP:rs11557427</li>									rs11557427	2
Q96BR5	65260		<li>K->R at 219: in dbSNP:rs443751</li>									rs443751	2
Q96BT3	80152		<li>P->L at 115: in dbSNP:rs12102580</li>									rs12102580	2
Q96BW5	9317		<li>E->G at 97: in dbSNP:rs36023740</li>									rs36023740	2
Q96BW9	132001		<li>N->S at 116: in dbSNP:rs7641243</li><li>I->V at 179: in dbSNP:rs11551661</li>									<li>rs11551661</li><li>rs7641243</li>	2
Q96BY7	55102		<li>N->D at 1124: in dbSNP:rs9323945</li><li>Q->E at 1383: in dbSNP:rs3759601</li><li>T->I at 1567: in dbSNP:rs2289622</li>									<li>rs3759601</li><li>rs2289622</li><li>rs9323945</li>	2
Q96BY9	51669		<li>P->T at 78: in dbSNP:rs11538828</li>									rs11538828	2
Q96BZ4	122618		<li>E->Q at 27: in dbSNP:rs2841280</li><li>V->M at 135: in dbSNP:rs3803295</li>									<li>rs3803295</li><li>rs2841280</li>	2
Q96BZ8	79165		<li>E->K at 97: in dbSNP:rs35089861</li>									rs35089861	2
Q96BZ9	128637		<li>N->S at 79: in dbSNP:rs36088178</li>									rs36088178	2
Q96C03	125170		<li>G->E at 324: in dbSNP:rs12603700</li><li>R->Q at 354: in dbSNP:rs3751981</li>									<li>rs3751981</li><li>rs12603700</li>	2
Q96C10	79132		<li>T->A at 76: in dbSNP:rs34891485</li><li>R->Q at 95: in dbSNP:rs35118457</li><li>Q->R at 425: in dbSNP:rs2074158</li><li>R->Q at 523: in dbSNP:rs2074160</li>									<li>rs2074160</li><li>rs2074158</li><li>rs35118457</li><li>rs34891485</li>	2
Q96C11	55277		<li>L->V at 134: in dbSNP:rs11207463</li>									rs11207463	2
Q96C12	79798		<li>I->V at 170: in dbSNP:rs35923277</li>									rs35923277	2
Q96C24	94121		<li>V->I at 420: in dbSNP:rs2022039</li>									rs2022039	2
Q96C28	286075		<li>H->P at 94: in dbSNP:rs6987308</li>									rs6987308	2
Q96C34	146923		<li>V->I at 4: in dbSNP:rs17853899</li><li>R->W at 160: in dbSNP:rs1708875</li><li>L->M at 397: in dbSNP:rs17857183</li><li>E->K at 566: in dbSNP:rs3744241</li>									<li>rs3744241</li><li>rs17853899</li><li>rs1708875</li><li>rs17857183</li>	2
Q96C45	54986		<li>V->A at 18: in dbSNP rsrs34538622</li><li>K->R at 39: in dbSNP:rs2272007</li><li>N->K at 139: in dbSNP rsrs35833603</li><li>S->N at 223: in dbSNP rsrs55840267</li><li>I->V at 224: in dbSNP:rs1716975</li><li>S->G at 348: in dbSNP rsrs35263917</li><li>T->M at 415</li><li>S->P at 417</li><li>A->T at 542: in dbSNP:rs1052501</li><li>K->R at 569: in dbSNP:rs3774372</li><li>L->S at 603: in dbSNP:rs17063572</li><li>S->A at 640: in dbSNP:rs4973986</li><li>A->T at 715: in dbSNP:rs17215589</li><li>A->V at 1261: in dbSNP:rs6769117</li>									<li>rs1716975</li><li>rs1052501</li><li>rs35263917</li><li>rs17215589</li><li>rs34538622</li><li>rs2272007</li><li>rs6769117</li><li>rs3774372</li><li>rs17063572</li><li>rs4973986</li><li>rs55840267</li><li>rs35833603</li>	2
Q96C57	64897		<li>G->R at 44: in dbSNP:rs16950706</li>									rs16950706	2
Q96C74	83853		<li>N->K at 103: in dbSNP:rs35573613</li><li>R->P at 156: in dbSNP:rs17851209</li>									<li>rs35573613</li><li>rs17851209</li>	2
Q96C92	10807		<li>L->V at 157: in dbSNP:rs7047681</li><li>E->G at 176: in dbSNP:rs17851182</li><li>R->Q at 304: in dbSNP:rs3812577</li><li>V->M at 379: in dbSNP:rs1131992</li><li>V->I at 428: in dbSNP:rs17855450</li>									<li>rs17851182</li><li>rs17855450</li><li>rs3812577</li><li>rs7047681</li><li>rs1131992</li>	2
Q96CB5	56260		<li>Q->R at 131: in dbSNP:rs1909534</li><li>S->F at 148: in dbSNP:rs1057463</li>									<li>rs1057463</li><li>rs1909534</li>	2
Q96CB8	57117		<li>T->A at 323: in dbSNP:rs34567094</li>									rs34567094	2
Q96CB9	387338		<li>T->A at 51: in dbSNP:rs3737744</li><li>N->K at 128: in dbSNP:rs17102152</li><li>I->T at 325: in dbSNP:rs13374337</li><li>I->V at 365: in dbSNP:rs9865</li>									<li>rs3737744</li><li>rs9865</li><li>rs13374337</li><li>rs17102152</li>	2
Q96CF2	92421		<li>A->T at 232: in dbSNP:rs35094336</li>									rs35094336	2
Q96CK0	115950		<li>K->R at 54: in dbSNP:rs17851437</li>									rs17851437	2
Q96CM3	84881		<li>Q->R at 44: in dbSNP:rs2282580</li><li>D->G at 58: in dbSNP:rs35468281</li><li>E->D at 155: in dbSNP:rs34809853</li><li>A->V at 209: in dbSNP:rs35157957</li>									<li>rs35468281</li><li>rs35157957</li><li>rs2282580</li><li>rs34809853</li>	2
Q96CM8	80221		<li>G->V at 75: in dbSNP:rs17856448</li><li>V->M at 316: in dbSNP:rs3744523</li>									<li>rs17856448</li><li>rs3744523</li>	2
Q96CN9	79571		<li>R->W at 86: in dbSNP:rs17151044</li><li>C->W at 87: in dbSNP:rs2285348</li><li>A->V at 122: in dbSNP:rs35322201</li><li>Q->R at 262: in dbSNP:rs35390108</li><li>A->T at 274: in dbSNP:rs34887879</li><li>R->C at 618: in dbSNP:rs34883586</li>									<li>rs34887879</li><li>rs17151044</li><li>rs2285348</li><li>rs35390108</li><li>rs35322201</li><li>rs34883586</li>	2
Q96CT7	115098		<li>E->Q at 138: in dbSNP:rs8104153</li>									rs8104153	2
Q96CU9	55572		<li>V->I at 145: in dbSNP:rs34542988</li><li>A->P at 343: in dbSNP:rs17855445</li><li>H->R at 380: in dbSNP:rs7116126</li>									<li>rs7116126</li><li>rs34542988</li><li>rs17855445</li>	2
Q96CV9	10133		<li>H->D at 26: in GLC1E, MIM: 137760</li><li>E->K at 50: in GLC1E; dbSNP:rs28939688, MIM: 137760</li><li>M->K at 98: may modify intraocular pressure and increase risk of GLC1E and NPG; may be a common polymorphism; dbSNP:rs11258194, MIM: 137760</li><li>E->D at 103: in GLC1E, MIM: 137760</li><li>P->S at 201, MIM: 137760</li><li>K->H at 213: requires 2 nucleotide substitutions, MIM: 137760</li><li>S->R at 216, MIM: 137760</li><li>S->P at 308: in dbSNP:rs7068431, MIM: 137760</li><li>E->K at 322: in dbSNP:rs523747, MIM: 137760</li><li>T->P at 357, MIM: 137760</li><li>H->R at 486: in GLC1E; juvenile onset, MIM: 137760</li><li>R->Q at 545: in GLC1E; could be a polymorphism: in dbSNP rsrs28939689, MIM: 137760</li>							Q96CV9	Primary open angle glaucoma type 1E (GLC1E) [MIM:137760]	<li>rs7068431</li><li>rs523747</li><li>rs11258194</li><li>rs28939688</li><li>rs28939689</li>	2
Q96CW5	10426		<li>T->S at 208: in dbSNP:rs1044287</li>									rs1044287	2
Q96CW6	84138		<li>V->M at 24: in dbSNP:rs35800405</li><li>D->G at 45: in dbSNP:rs3803650</li><li>S->A at 116: in dbSNP:rs8063446</li><li>Y->C at 220: in dbSNP:rs11548855</li>									<li>rs35800405</li><li>rs3803650</li><li>rs8063446</li><li>rs11548855</li>	2
Q96CW9	84628		<li>A->T at 346: in dbSNP:rs4962173</li>									rs4962173	2
Q96CX3	115560		<li>M->V at 17: in dbSNP:rs4682752</li>									rs4682752	2
Q96D03	115265		<li>S->F at 161: in dbSNP:rs11553154</li>									rs11553154	2
Q96D09	114928		<li>R->S at 173: in dbSNP:rs6616421</li>									rs6616421	2
Q96D15	57333		<li>R->W at 250: in dbSNP:rs34654230</li>									rs34654230	2
Q96D31	84876		<li>R->W at 91: in CRAC-SCID, MIM: 610277</li><li>S->G at 218: in dbSNP:rs3741596, MIM: 610277</li>								Severe combined immunodeficiency with CRAC channel dysfunction (CRAC-SCID) [MIM:610277]	rs3741596	2
Q96D42	26762		<li>P->PMTTTVP at 157</li><li>P->PMTTVP at 157</li><li>Missing at 195</li>										2
Q96D53	79934		<li>R->C at 78: in dbSNP:rs11538384</li><li>H->R at 174: in dbSNP:rs3865452</li><li>T->M at 318: in dbSNP rsrs55899516</li><li>T->R at 352: in dbSNP:rs36012476</li><li>T->M at 462: in dbSNP rsrs56083906</li>									<li>rs56083906</li><li>rs55899516</li><li>rs3865452</li><li>rs11538384</li><li>rs36012476</li>	2
Q96D59	138065		<li>T->A at 82: in dbSNP:rs3750533</li><li>R->Q at 114: in dbSNP:rs3750534</li>									<li>rs3750533</li><li>rs3750534</li>	2
Q96DB5	51115		<li>K->N at 52: in dbSNP:rs6980476</li>									rs6980476	2
Q96DB9			<li>S->A at 35: in dbSNP:rs1688005</li><li>H->R at 176: in dbSNP:rs12110</li>									<li>rs12110</li><li>rs1688005</li>	2
Q96DC7	55374		<li>T->S at 299: in dbSNP:rs17208187</li>									rs17208187	2
Q96DC8	79746		<li>T->A at 69: in dbSNP:rs4750090</li><li>T->A at 151: in dbSNP:rs7910140</li><li>D->N at 162: in dbSNP:rs35986488</li>									<li>rs35986488</li><li>rs4750090</li><li>rs7910140</li>	2
Q96DD0	127495		<li>I->L at 121: in dbSNP:rs34920283</li>									rs34920283	2
Q96DD7	149345		<li>M->I at 159: in dbSNP:rs2250377</li>									rs2250377	2
Q96DF8	8220		<li>A->V at 31</li><li>V->M at 336: in dbSNP:rs17743887</li><li>A->V at 423: in dbSNP:rs712965</li>									<li>rs17743887</li><li>rs712965</li>	2
Q96DG6	134147		<li>Y->C at 155: in dbSNP:rs35489000</li>									rs35489000	2
Q96DL1			<li>V->A at 103: in dbSNP:rs11215158</li>									rs11215158	2
Q96DN2	220001		<li>P->R at 842: in dbSNP:rs3750982</li>									rs3750982	2
Q96DN5	93594		<li>R->H at 414: in dbSNP:rs16897967</li><li>V->F at 709: in dbSNP:rs16898023</li>									<li>rs16898023</li><li>rs16897967</li>	2
Q96DR5	140683		<li>G->R at 43: in dbSNP:rs6059139</li><li>K->E at 113: in dbSNP:rs17304572</li><li>R->C at 221: in dbSNP:rs6120140</li>									<li>rs6120140</li><li>rs17304572</li><li>rs6059139</li>	2
Q96DR8	118430		<li>Missing at 46-53</li>										2
Q96DS6	245802		<li>I->V at 6: in dbSNP:rs2304935</li><li>T->A at 10: in dbSNP:rs2304934</li><li>V->F at 47: in dbSNP:rs2304933</li>									<li>rs2304933</li><li>rs2304935</li><li>rs2304934</li>	2
Q96DT5	8701		<li>E->L at 34: requires 2 nucleotide substitutions</li><li>E->V at 34: in dbSNP:rs2285944</li><li>Q->R at 639: in dbSNP:rs12670130</li><li>S->C at 654</li><li>V->A at 1023: in dbSNP:rs10269582</li><li>A->T at 1038: in dbSNP:rs10224537</li><li>M->V at 1316: in dbSNP:rs17144788</li><li>D->G at 1640: in dbSNP:rs17144835</li><li>S->N at 2641</li><li>I->V at 2682</li><li>R->Q at 3004: in CILD7; not proven to be pathogenic, MIM: 611884</li><li>A->T at 3474, MIM: 611884</li><li>L->V at 3715, MIM: 611884</li><li>S->P at 3765, MIM: 611884</li><li>M->V at 4172, MIM: 611884</li><li>T->I at 4177, MIM: 611884</li>								Primary ciliary dyskinesia type 7 (CILD7) [MIM:611884]	<li>rs10269582</li><li>rs12670130</li><li>rs17144835</li><li>rs10224537</li><li>rs2285944</li><li>rs17144788</li>	2
Q96DT7	65986		<li>T->P at 50: in dbSNP:rs591989</li><li>I->M at 174: in dbSNP:rs593747</li>									<li>rs591989</li><li>rs593747</li>	2
Q96DU9	100131622		<li>N->S at 314: in dbSNP:rs7050077</li>									rs7050077	2
Q96DV4	64978		<li>D->H at 371: in dbSNP:rs9191</li>									rs9191	2
Q96DW6	54977		<li>R->G at 66: in dbSNP:rs34127778</li>									rs34127778	2
Q96DZ5	25999		<li>D->V at 175: in dbSNP:rs17851002</li>									rs17851002	2
Q96E11	92399		<li>M->V at 216: in dbSNP:rs2297483</li>									rs2297483	2
Q96E22	116150		<li>N->Y at 175: in dbSNP:rs28362518</li><li>D->E at 179: in dbSNP:rs28362519</li><li>Missing  at 210: in dbSNP:rs1052237</li><li>K->R at 216: in dbSNP:rs1052239</li><li>T->K at 219: in dbSNP:rs1132147</li>									<li>rs1132147</li><li>rs28362518</li><li>rs28362519</li><li>rs1052239</li><li>rs1052237</li>	2
Q96E29	51001		<li>E->G at 396: in dbSNP:rs7461970</li>									rs7461970	2
Q96E52	115209		<li>N->K at 67: in dbSNP:rs34466938</li><li>P->L at 117: in dbSNP:rs17117720</li><li>F->C at 211: in dbSNP:rs17117699</li><li>L->V at 226: in a colorectal cancer sample; somatic mutation</li><li>I->L at 329: in dbSNP:rs17117678</li>									<li>rs17117720</li><li>rs17117699</li><li>rs34466938</li><li>rs17117678</li>	2
Q96E93	10219		<li>W->R at 58: in dbSNP:rs1805749</li>									rs1805749	2
Q96EA4	54908		<li>H->Y at 508: in dbSNP:rs3797713</li><li>S->L at 586: in dbSNP:rs3777084</li>									<li>rs3797713</li><li>rs3777084</li>	2
Q96EB1	26610		<li>I->L at 300: in dbSNP:rs34804357</li>									rs34804357	2
Q96EC8	286451		<li>F->L at 202: in dbSNP:rs17850921</li>									rs17850921	2
Q96ED9	29911		<li>G->R at 10: in dbSNP:rs2305376</li><li>H->Q at 488: in dbSNP:rs897804</li>									<li>rs2305376</li><li>rs897804</li>	2
Q96EE3	81929		<li>T->N at 342: in dbSNP:rs6505776</li>									rs6505776	2
Q96EF0	55613		<li>W->R at 127: in a breast cancer sample; somatic mutation</li><li>E->K at 454: in a breast cancer sample; somatic mutation</li>										2
Q96EG1	22901		<li>A->V at 11: in dbSNP:rs8074806</li><li>T->S at 236: in dbSNP:rs1558876</li><li>W->R at 274: in dbSNP:rs1558878</li><li>R->H at 385: in dbSNP:rs9972951</li>									<li>rs9972951</li><li>rs8074806</li><li>rs1558876</li><li>rs1558878</li>	2
Q96EG3	116412		<li>Q->R at 153: in dbSNP:rs7256940</li>									rs7256940	2
Q96EK2	112885		<li>G->S at 127: in dbSNP:rs8135982</li>									rs8135982	2
Q96EK5	26128		<li>G->S at 66: in dbSNP:rs2255607</li>									rs2255607	2
Q96EK7	84498		<li>D->Y at 370: in dbSNP:rs6917485</li><li>M->T at 379: in dbSNP:rs6905356</li><li>Y->C at 428: in dbSNP:rs6900199</li><li>D->G at 430: in dbSNP:rs6900202</li><li>S->P at 431: in dbSNP:rs6905610</li><li>P->A at 433: in dbSNP:rs6934830</li><li>Y->C at 440: in dbSNP:rs9366138</li><li>C->G at 511: in dbSNP:rs9348266</li>									<li>rs6917485</li><li>rs6934830</li><li>rs9366138</li><li>rs6900202</li><li>rs6905610</li><li>rs6905356</li><li>rs9348266</li><li>rs6900199</li>	2
Q96EK9	112970		<li>D->E at 191: in dbSNP:rs2783175</li>									rs2783175	2
Q96EL2	64951		<li>W->R at 97: in dbSNP:rs670573</li>									rs670573	2
Q96EL3	116540		<li>A->S at 4: in dbSNP:rs1047911</li>									rs1047911	2
Q96EM0	112849		<li>V->A at 42: in dbSNP:rs17096291</li><li>A->V at 315: in dbSNP:rs1046701</li><li>I->V at 341: in dbSNP:rs8660</li>									<li>rs8660</li><li>rs17096291</li><li>rs1046701</li>	2
Q96EN8	55034		<li>A->P at 57: in XU2, MIM: 603592</li><li>S->N at 120: in dbSNP:rs3744900, MIM: 603592</li><li>I->T at 170: in dbSNP:rs623053, MIM: 603592</li><li>G->S at 184: in dbSNP:rs540967, MIM: 603592</li><li>R->H at 225: in dbSNP:rs623558, MIM: 603592</li><li>T->I at 294: in XU2, MIM: 603592</li><li>M->V at 358: in dbSNP:rs678560, MIM: 603592</li><li>D->N at 495: in dbSNP:rs8088347, MIM: 603592</li><li>V->L at 541: in dbSNP:rs672924, MIM: 603592</li><li>H->N at 703: in dbSNP:rs594445, MIM: 603592</li><li>R->C at 776: in XU2, MIM: 603592</li><li>V->A at 867: in dbSNP:rs1057251, MIM: 603592</li>								Xanthinuria type 2 (XU2) [MIM:603592]	<li>rs8088347</li><li>rs540967</li><li>rs1057251</li><li>rs678560</li><li>rs3744900</li><li>rs623053</li><li>rs623558</li><li>rs594445</li><li>rs672924</li>	2
Q96EP0	55072		<li>V->I at 1061: in dbSNP:rs2277484</li>									rs2277484	2
Q96EP5	26528		<li>S->T at 381: in a breast cancer sample; somatic mutation</li>										2
Q96ER3	113174		<li>I->V at 315: in dbSNP:rs35525096</li><li>S->G at 426: in dbSNP:rs28930681</li>									<li>rs28930681</li><li>rs35525096</li>	2
Q96ER9	79714		<li>F->S at 360: in dbSNP:rs7618609</li>									rs7618609	2
Q96ES6	113655		<li>G->R at 292: in dbSNP:rs2306387</li>									rs2306387	2
Q96ET8	201158		<li>D->A at 12: in dbSNP:rs17850827</li>									rs17850827	2
Q96EU6	88745		<li>A->G at 78: in dbSNP:rs3749903</li>									rs3749903	2
Q96EU7	29071		<li>D->E at 131: common polymorphism; retains capacity to promote Tn synthase activity; dbSNP:rs17261572</li><li>E->K at 152: in Tn syndrome; loss capacity to promote Tn synthase activity, MIM: 300622</li>								Tn syndrome [MIM:300622]	rs17261572	2
Q96EV2	155435		<li>T->A at 574: in dbSNP:rs3735576</li>									rs3735576	2
Q96EV8	84062		<li>G->D at 214: in dbSNP:rs16876589</li><li>P->S at 272: in dbSNP:rs17470454</li>									<li>rs17470454</li><li>rs16876589</li>	2
Q96EW2	79663		<li>S->A at 64: in dbSNP:rs16833517</li>									rs16833517	2
Q96EX1	113444		<li>L->V at 14: in dbSNP:rs14103</li>									rs14103	2
Q96EY4	55319		<li>R->Q at 12: in dbSNP:rs34907234</li><li>Q->P at 65: in dbSNP:rs2304802</li><li>I->T at 176: in dbSNP:rs1561736</li>									<li>rs34907234</li><li>rs2304802</li><li>rs1561736</li>	2
Q96EY7	55037		<li>A->V at 2: in dbSNP:rs13393659</li><li>S->G at 681: in dbSNP:rs2241433</li>									<li>rs2241433</li><li>rs13393659</li>	2
Q96EY8	326625		<li>R->H at 19: in dbSNP:rs10774775</li><li>R->Q at 19: common polymorphism</li><li>I->T at 96: in MMAB, MIM: 251110</li><li>A->T at 135: in MMAB; dbSNP:rs35648932, MIM: 251110</li><li>R->W at 186: rare polymorphism: in dbSNP rsrs28941784, MIM: 251110</li><li>R->W at 191: in MMAB, MIM: 251110</li><li>E->K at 193: in MMAB, MIM: 251110</li><li>M->K at 239: common polymorphism; dbSNP:rs9593, MIM: 251110</li>							<li>Q96EY8</li><li>Q58D49</li>	Methylmalonic aciduria type cblB (MMAB) [MIM:251110]	<li>rs10774775</li><li>rs35648932</li><li>rs28941784</li><li>rs9593</li>	2
Q96EY9	113179		<li>R->C at 332: in a breast cancer sample; somatic mutation</li>										2
Q96EZ4	26579		<li>A->V at 159: in dbSNP:rs7103126</li>									rs7103126	2
Q96EZ8	10445		<li>V->I at 441: in a colorectal cancer sample; somatic mutation</li>										2
Q96F05	53838		<li>G->V at 97: in dbSNP:rs3802746</li><li>A->T at 150: in dbSNP:rs901827</li>									<li>rs901827</li><li>rs3802746</li>	2
Q96F07	26999		<li>K->E at 320: in RNA edited version</li>										2
Q96F10	112483		<li>R->C at 126: in dbSNP:rs13894</li>									rs13894	2
Q96F25	199857		<li>V->M at 14: in dbSNP:rs11165298</li>									rs11165298	2
Q96F45	84858		<li>N->K at 509: in dbSNP:rs35764982</li>									rs35764982	2
Q96F46	23765		<li>A->V at 367: in dbSNP:rs879577</li><li>P->Q at 562: in dbSNP:rs12484684</li><li>R->H at 580: in dbSNP:rs17850765</li>									<li>rs12484684</li><li>rs17850765</li><li>rs879577</li>	2
Q96F81	84976		<li>E->K at 103: in dbSNP:rs2609383</li>									rs2609383	2
Q96FB5	51093		<li>V->L at 400: in dbSNP:rs4311877</li>									rs4311877	2
Q96FC7	84457		<li>L->V at 342: in dbSNP:rs2452505</li>									rs2452505	2
Q96FC9	1663		<li>I->S at 39: in dbSNP:rs1046454</li><li>Q->E at 567: in dbSNP:rs2075322</li><li>T->M at 575: in dbSNP:rs17857386</li><li>R->H at 856: in dbSNP:rs1046457</li><li>C->R at 864: in dbSNP:rs3893679</li><li>C->R at 951: in dbSNP:rs1046458</li><li>W->C at 966: in dbSNP:rs14330</li>									<li>rs17857386</li><li>rs1046454</li><li>rs2075322</li><li>rs1046457</li><li>rs1046458</li><li>rs14330</li><li>rs3893679</li>	2
Q96FE5	84894		<li>S->F at 183: in dbSNP:rs9855</li>									rs9855	2
Q96FE7	113791		<li>T->S at 251: in dbSNP:rs2040533</li>									rs2040533	2
Q96FF7			<li>V->A at 340: in dbSNP:rs7258963</li>									rs7258963	2
Q96FF9	113130		<li>S->Y at 156: in dbSNP:rs34020666</li>									rs34020666	2
Q96FG2	84173		<li>R->C at 66: in dbSNP:rs7564372</li><li>T->I at 70: in dbSNP:rs955592</li>									<li>rs955592</li><li>rs7564372</li>	2
Q96FJ0	57559	<ul><li>E->A at 292: Complete loss of catalytic activity</li><li>E->A at 329: 3-fold decrease in substrate affinity</li><li>F->A at 332: 12-fold decrease in substrate affinity, little effect on catalytic activity</li><li>T->A at 353: 19-fold decrease in activity, no change in substrate affinity</li><li>F->A at 355: 161-fold decrease in activity, no change in substrate affinity</li><li>S->A at 357: 34-fold decrease in activity</li><li>S->A at 358: 10-fold decrease in activity, no change in substrate affinity</li><li>D->A at 360: Complete loss of catalytic activity</li><li>M->A at 370: 18-fold decrease in substrate affinity, little effect on catalytic activity</li><li>C->S at 402: 402-fold decrease in activity, slight increase in substrate affinity</li><li>F->A at 407: 35-fold decrease in activity, slight increase in substrate affinity</li></ul>	<li>S->N at 196: in dbSNP:rs12254856</li><li>E->K at 204: in dbSNP:rs34270879</li><li>A->T at 210: in dbSNP:rs9988723</li>			catalytic activity	GO:0003824					<li>rs34270879</li><li>rs9988723</li><li>rs12254856</li>	3
Q96FL9	79623		<li>Q->K at 469: in dbSNP:rs2288101</li>									rs2288101	2
Q96FN9	112487		<li>R->W at 6: in dbSNP:rs17097904</li>									rs17097904	2
Q96FQ7	147525		<li>P->A at 16: in dbSNP:rs7242964</li>									rs7242964	2
Q96FS4	6494		<li>R->Q at 80: in dbSNP:rs35045265</li><li>A->S at 106: in dbSNP:rs3741379</li><li>E->D at 174: in dbSNP:rs34912782</li><li>S->F at 182: in dbSNP:rs3741378</li>									<li>rs3741378</li><li>rs3741379</li><li>rs34912782</li><li>rs35045265</li>	2
Q96FV2	90507		<li>K->R at 103: in dbSNP:rs17856536</li><li>E->Q at 273: in dbSNP:rs35901087</li><li>V->M at 323: in dbSNP:rs7350974</li><li>Q->R at 330: in dbSNP:rs34480825</li><li>S->G at 411: in dbSNP:rs17856535</li>									<li>rs34480825</li><li>rs17856536</li><li>rs17856535</li><li>rs7350974</li><li>rs35901087</li>	2
Q96FX7	115708		<li>V->A at 66</li>										2
Q96FX8	64065		<li>P->R at 143: in dbSNP:rs648802</li>									rs648802	2
Q96G03	55276		<li>G->D at 10: in dbSNP:rs17856324</li><li>E->D at 488: in dbSNP:rs10001580</li>									<li>rs17856324</li><li>rs10001580</li>	2
Q96G04	196483		<li>S->C at 123: in dbSNP:rs9673733</li>									rs9673733	2
Q96G23	29956		<li>E->A at 115: in dbSNP:rs267738</li>									rs267738	2
Q96G28	112942		<li>E->D at 6: in dbSNP:rs34891804</li><li>D->G at 243: in dbSNP:rs1045910</li><li>I->F at 246: in dbSNP:rs1045920</li>									<li>rs34891804</li><li>rs1045920</li><li>rs1045910</li>	2
Q96G46	56931		<li>R->G at 185: in dbSNP:rs2436487</li><li>D->N at 609: in dbSNP:rs12977803</li>									<li>rs12977803</li><li>rs2436487</li>	2
Q96G61	55190		<li>S->N at 39</li>										2
Q96G91	5032		<li>A->T at 87: in dbSNP:rs3745601</li>									rs3745601	2
Q96G97	26580		<li>N->S at 88: in SPG17 and DSMAV, MIM: 270685</li><li>S->L at 90: in SPG17 and DSMAV, MIM: 270685</li><li>A->P at 212: in CGL2, MIM: 269700</li>							P20718	<li>Distal hereditary motor neuropathy type V (DSMAV) [MIM:600794]</li><li>Congenital generalized lipodystrophy type 2 (CGL2) [MIM:269700]</li><li>Spastic paraplegia type 17 (SPG17) [MIM:270685]</li>		2
Q96GC5	51642		<li>E->G at 6: in dbSNP:rs17850551</li>									rs17850551	2
Q96GD4	9212		<li>A->V at 52: in dbSNP rsrs55878091</li><li>H->Q at 100: in dbSNP:rs3027254</li><li>T->M at 179: in dbSNP rsrs55871613</li><li>T->M at 298: in dbSNP:rs1059476</li>									<li>rs1059476</li><li>rs3027254</li><li>rs55878091</li><li>rs55871613</li>	2
Q96GE4	90799		<li>M->I at 165: in dbSNP:rs9910506</li><li>A->V at 811: in dbSNP:rs11550922</li>									<li>rs9910506</li><li>rs11550922</li>	2
Q96GE5	90576		<li>G->V at 46: in dbSNP:rs1134387</li><li>C->R at 595: in dbSNP:rs8112445</li>									<li>rs1134387</li><li>rs8112445</li>	2
Q96GE6	91860		<li>R->C at 28: in dbSNP:rs3803381</li><li>T->K at 154: in dbSNP:rs2280217</li>									<li>rs3803381</li><li>rs2280217</li>	2
Q96GJ1	79979		<li>S->R at 12: in dbSNP:rs7064613</li>									rs7064613	2
Q96GK7	51011		<li>M->T at 198: in dbSNP:rs1045332</li>									rs1045332	2
Q96GM1	64748		<li>T->M at 155: in a colorectal cancer sample; somatic mutation</li>										2
Q96GM8	114034		<li>R->H at 341: in dbSNP:rs9429157</li>									rs9429157	2
Q96GN5	55536		<li>R->S at 187: in dbSNP:rs35281045</li>									rs35281045	2
Q96GP6	91179		<li>R->C at 494: in a breast cancer sample; somatic mutation</li><li>E->D at 773: in dbSNP:rs759611</li><li>L->V at 774: in dbSNP:rs759612</li><li>A->G at 815: in dbSNP:rs874100</li><li>A->G at 833: in dbSNP:rs874101</li>									<li>rs874101</li><li>rs874100</li><li>rs759612</li><li>rs759611</li>	2
Q96GQ5	64755		<li>G->E at 43: in a breast cancer sample; somatic mutation</li><li>Y->C at 185: in dbSNP:rs17855405</li>									rs17855405	2
Q96GQ7	55661		<li>G->S at 766: in dbSNP:rs1130146</li>									rs1130146	2
Q96GR2	23205		<li>E->V at 194: in dbSNP:rs12899901</li><li>V->M at 633: in dbSNP:rs2304824</li><li>A->V at 673: in dbSNP:rs11072735</li>									<li>rs11072735</li><li>rs12899901</li><li>rs2304824</li>	2
Q96GR4	84885		<li>P->S at 69: in dbSNP:rs2298039</li><li>Q->L at 172: in dbSNP:rs2900268</li>									<li>rs2900268</li><li>rs2298039</li>	2
Q96GW7	63827		<li>S->L at 356: in dbSNP:rs12065791</li><li>E->K at 504: in dbSNP:rs1056695</li>									<li>rs1056695</li><li>rs12065791</li>	2
Q96GX5	84930		<li>E->D at 167: in THC2: in dbSNP rsrs28941470, MIM: 188000</li><li>T->K at 337: in dbSNP rsrs36121140, MIM: 188000</li><li>V->I at 610: in dbSNP rsrs35571315, MIM: 188000</li><li>P->A at 620: in dbSNP:rs3802526, MIM: 188000</li>							Q96GX5	Thrombocytopenia type 2 (THC2) [MIM:188000]	<li>rs28941470</li><li>rs3802526</li><li>rs36121140</li><li>rs35571315</li>	2
Q96GX9	51074		<li>R->W at 7: in dbSNP:rs2956114</li><li>H->R at 23: in dbSNP:rs17850326</li><li>C->Y at 76: in dbSNP:rs1977420</li><li>M->V at 181: in dbSNP:rs17850327</li>									<li>rs17850326</li><li>rs17850327</li><li>rs2956114</li><li>rs1977420</li>	2
Q96GY0	51101		<li>A->T at 156: in dbSNP:rs17850447</li>									rs17850447	2
Q96GY3	55957		<li>P->S at 172: in dbSNP:rs35617825</li>									rs35617825	2
Q96GZ6	54946		<li>A->T at 62: in dbSNP:rs4234270</li><li>V->M at 71: in dbSNP:rs11543283</li>									<li>rs4234270</li><li>rs11543283</li>	2
Q96H15	91937		<li>A->V at 240: in dbSNP:rs6873053</li><li>V->M at 365: in dbSNP:rs7731575</li>									<li>rs7731575</li><li>rs6873053</li>	2
Q96H22	55839		<li>D->E at 84: in dbSNP:rs935939</li><li>Q->R at 223: in dbSNP:rs11641523</li><li>E->K at 288: in dbSNP:rs2549887</li>									<li>rs2549887</li><li>rs935939</li><li>rs11641523</li>	2
Q96H55	80179		<li>N->S at 176: in dbSNP:rs2306595</li><li>Q->H at 203: in dbSNP:rs9890918</li><li>L->I at 475: in dbSNP:rs7217346</li>									<li>rs7217346</li><li>rs9890918</li><li>rs2306595</li>	2
Q96H72	91252		<li>G->E at 28: in dbSNP:rs2010519</li><li>Missing  at 162-164: in SCD-EDS</li><li>P->L at 346: in dbSNP:rs35978122</li>							<li>Q9TT94</li><li>Q64420</li><li>O00767</li><li>Q95MI7</li><li>O62849</li><li>O02858</li>		<li>rs2010519</li><li>rs35978122</li>	2
Q96H78	9673		<li>S->I at 52: in dbSNP:rs11576750</li>									rs11576750	2
Q96H86	92595		<li>A->V at 332: in dbSNP:rs17850402</li>									rs17850402	2
Q96H96	27235		<li>Y->C at 247: in coenzyme Q10 deficiency, MIM: 607426</li>								Coenzyme Q10 deficiency [MIM:607426]		2
Q96HA1	9883		<li>A->G at 1215: in dbSNP:rs3177261</li>									rs3177261	2
Q96HA7	4796		<li>V->M at 488: in dbSNP:rs2229314</li><li>G->S at 493: in dbSNP:rs2229315</li><li>A->V at 714: in dbSNP:rs7830832</li><li>P->L at 1276: in dbSNP:rs4925856</li>									<li>rs2229314</li><li>rs2229315</li><li>rs7830832</li><li>rs4925856</li>	2
Q96HA8	55093		<li>I->V at 32: in dbSNP:rs6999234</li><li>N->S at 93: in dbSNP:rs7014678</li><li>F->I at 116: in dbSNP:rs6470147</li><li>R->C at 134: in dbSNP:rs3824250</li>									<li>rs6470147</li><li>rs6999234</li><li>rs3824250</li><li>rs7014678</li>	2
Q96HA9	92960		<li>C->W at 91: in dbSNP:rs2303146</li>									rs2303146	2
Q96HC4	10611		<li>S->F at 136: in dbSNP:rs2452600</li><li>S->L at 319: in dbSNP:rs1064238</li><li>T->A at 345: in dbSNP:rs966845</li><li>T->A at 381: in dbSNP:rs7690296</li><li>P->S at 388: in dbSNP:rs7690464</li><li>N->S at 492: in dbSNP:rs13107595</li>									<li>rs7690464</li><li>rs2452600</li><li>rs1064238</li><li>rs13107595</li><li>rs7690296</li><li>rs966845</li>	2
Q96HD1	78987		<li>M->V at 13: in dbSNP:rs279552</li><li>R->H at 107: in AVSD2 susceptibility; with heterotaxy syndrome: in dbSNP rsrs28941780</li><li>P->R at 128: in dbSNP:rs2302787</li><li>P->A at 162: in AVSD2 susceptibility</li><li>T->I at 311: in AVSD2 susceptibility: in dbSNP rsrs28942092</li><li>R->C at 329: in AVSD2 susceptibility: in dbSNP rsrs28942091</li>									<li>rs28942092</li><li>rs2302787</li><li>rs28942091</li><li>rs279552</li><li>rs28941780</li>	2
Q96HD9	91703		<li>R->Q at 8: in dbSNP:rs948445</li><li>V->M at 281: in dbSNP:rs2290959</li>									<li>rs948445</li><li>rs2290959</li>	2
Q96HF1	6423		<li>A->V at 45: in dbSNP:rs4643790</li>									rs4643790	2
Q96HJ3	91057		<li>P->S at 53: in dbSNP:rs11549824</li><li>H->N at 192: in dbSNP:rs12364852</li><li>E->A at 264: in dbSNP:rs17244028</li><li>I->V at 319: in dbSNP:rs16925453</li>									<li>rs17244028</li><li>rs12364852</li><li>rs11549824</li><li>rs16925453</li>	2
Q96HJ9	154791		<li>S->A at 8: in dbSNP:rs10265</li>									rs10265	2
Q96HM7	91523		<li>P->A at 429: in dbSNP:rs2543737</li>									rs2543737	2
Q96HP0	57572		<li>P->L at 250: in dbSNP:rs12978266</li><li>P->L at 555: in dbSNP:rs12609039</li><li>R->G at 665: in dbSNP:rs17001264</li><li>V->L at 1420: in dbSNP:rs8108071</li>									<li>rs12609039</li><li>rs12978266</li><li>rs17001264</li><li>rs8108071</li>	2
Q96HP4	92106		<li>R->Q at 59: in dbSNP:rs17042066</li><li>S->A at 64: in dbSNP:rs842274</li><li>R->C at 82: in dbSNP:rs6777976</li>									<li>rs842274</li><li>rs17042066</li><li>rs6777976</li>	2
Q96HP8	55365		<li>T->A at 122: in dbSNP:rs741064</li><li>L->F at 187: in dbSNP:rs10378</li><li>T->A at 208: in dbSNP:rs9088</li>									<li>rs9088</li><li>rs10378</li><li>rs741064</li>	2
Q96HQ0	79744		<li>E->Q at 141: in dbSNP:rs2074076</li><li>I->V at 336: in dbSNP:rs2074077</li>									<li>rs2074076</li><li>rs2074077</li>	2
Q96HR9	92840		<li>A->D at 150: in dbSNP:rs2271412</li>									rs2271412	2
Q96HU1	27352		<li>W->R at 20: in dbSNP:rs9611338</li><li>H->Q at 279: in dbSNP:rs34243479</li>									<li>rs34243479</li><li>rs9611338</li>	2
Q96HY6	65992		<li>A->T at 303: in dbSNP:rs11591</li>									rs11591	2
Q96HY7	55526		<li>L->F at 20: in dbSNP:rs1279138</li><li>Y->D at 272: in dbSNP:rs3740015</li><li>R->L at 308: in dbSNP:rs17849603</li><li>N->D at 350: in dbSNP:rs34716552</li><li>I->M at 607: in dbSNP:rs2062988</li>									<li>rs1279138</li><li>rs34716552</li><li>rs2062988</li><li>rs3740015</li><li>rs17849603</li>	2
Q96HZ4	55502		<li>R->Q at 218: in dbSNP:rs3739061</li>									rs3739061	2
Q96I15	51540		<li>K->E at 52: in dbSNP:rs7597367</li><li>A->T at 175: in dbSNP:rs3210400</li><li>F->S at 276: in dbSNP:rs35637307</li>									<li>rs3210400</li><li>rs7597367</li><li>rs35637307</li>	2
Q96I27	90589		<li>V->M at 41: in dbSNP:rs7258368</li>									rs7258368	2
Q96I51	81554		<li>R->G at 30: in dbSNP:rs6955671</li>									rs6955671	2
Q96I59	79731		<li>T->N at 87: in dbSNP:rs10501429</li>									rs10501429	2
Q96I76	63906		<li>N->S at 234: in dbSNP:rs35243557</li>									rs35243557	2
Q96I82	81621		<li>C->G at 76: in dbSNP:rs11547671</li><li>G->D at 236: in dbSNP:rs11190812</li><li>G->A at 255: in dbSNP:rs807037</li><li>R->H at 256: in dbSNP:rs36116329</li>									<li>rs11547671</li><li>rs36116329</li><li>rs11190812</li><li>rs807037</li>	2
Q96I99	8801		<li>K->R at 347: in dbSNP:rs9843840</li><li>R->W at 381: in dbSNP:rs7623258</li>									<li>rs7623258</li><li>rs9843840</li>	2
Q96ID5	84966		<li>T->M at 467: in a colorectal cancer sample; somatic mutation</li>										2
Q96IJ6	29926		<li>S->F at 21: in dbSNP:rs34218609</li><li>V->A at 156: in dbSNP:rs13396066</li>									<li>rs13396066</li><li>rs34218609</li>	2
Q96IL0	84334		<li>A->P at 14: in dbSNP:rs2274268</li><li>N->S at 75: in dbSNP:rs35960830</li>									<li>rs35960830</li><li>rs2274268</li>	2
Q96IM9	84332		<li>G->S at 143: in dbSNP:rs1047951</li>									rs1047951	2
Q96IP4	55603		<li>G->GGDFGG at 24</li><li>Missing at 39-43</li><li>T->A at 313</li>										2
Q96IQ9	84330		<li>Q->R at 65: in dbSNP:rs8100431</li><li>P->S at 77: in dbSNP:rs1064010</li>									<li>rs8100431</li><li>rs1064010</li>	2
Q96IS3	84839		<li>R->Q at 87: in ARMD6; increased transactivation and DNA-binding activity, MIM: 603075</li><li>G->R at 137: in CORD11; decreased interaction with Crx and transactivation activity, MIM: 610381</li><li>P->PGP at 140: in CORD11; decreased interaction with Crx and increased transactivation activity, MIM: 610381</li>			DNA-binding	GO:0003677			O54751	<li>Age-related macular degeneration type 6 (ARMD6) [MIM:603075]</li><li>Cone-rod dystrophy type 11 (CORD11) [MIM:610381]</li>		2
Q96IV0	55768		<li>V->I at 581: in dbSNP:rs7621398</li><li>Q->R at 591: in dbSNP:rs7635089</li>									<li>rs7621398</li><li>rs7635089</li>	2
Q96IV6	10826		<li>R->H at 133: in dbSNP:rs17641488</li>									rs17641488	2
Q96IW2	56961		<li>G->S at 138: in dbSNP:rs2287714</li><li>N->S at 270: in dbSNP:rs888930</li>									<li>rs2287714</li><li>rs888930</li>	2
Q96IY1	25936		<li>S->F at 4: in dbSNP:rs17856201</li><li>M->V at 254: in dbSNP:rs15702</li>									<li>rs17856201</li><li>rs15702</li>	2
Q96IY4	1361		<li>A->T at 169: in dbSNP:rs3742264</li><li>T->I at 347: in dbSNP:rs1926447</li>									<li>rs1926447</li><li>rs3742264</li>	2
Q96IZ0	5074		<li>P->L at 42: in dbSNP rsrs8176804</li><li>P->R at 78: in dbSNP:rs8176805</li><li>G->A at 137: in dbSNP rsrs8176806</li><li>E->A at 202: in dbSNP:rs8176870</li>									<li>rs8176805</li><li>rs8176806</li><li>rs8176804</li><li>rs8176870</li>	2
Q96IZ2	84830		<li>V->I at 202: in dbSNP:rs2076185</li>									rs2076185	2
Q96IZ5	55285		<li>H->Y at 376: in dbSNP:rs17850127</li>									rs17850127	2
Q96J42	79770		<li>S->P at 248: in a breast cancer sample; somatic mutation</li>										2
Q96J65	94160		<li>I->L at 9: in dbSNP:rs16945901</li><li>A->E at 102: in dbSNP:rs16945874</li><li>N->Y at 587: in dbSNP:rs16945816</li><li>E->V at 690: in dbSNP:rs34135219</li><li>K->M at 894: in dbSNP:rs8057474</li><li>T->S at 989: in dbSNP:rs6500305</li><li>Y->H at 1013: in dbSNP:rs6500304</li><li>R->C at 1117: in dbSNP:rs7193955</li><li>I->T at 1187: in dbSNP:rs34106426</li><li>E->A at 1191: in dbSNP:rs16945787</li><li>F->L at 1349: in dbSNP:rs12373105</li>									<li>rs6500305</li><li>rs16945816</li><li>rs16945787</li><li>rs7193955</li><li>rs16945874</li><li>rs34106426</li><li>rs34135219</li><li>rs12373105</li><li>rs16945901</li><li>rs6500304</li><li>rs8057474</li>	2
Q96J66	85320		<li>R->H at 19: in dbSNP:rs16945988</li><li>G->R at 180: in dry earwax phenotype; reduced transport activity; dbSNP:rs17822931</li><li>A->E at 317: in dbSNP:rs11863236</li><li>T->M at 546: in dbSNP:rs17822471</li><li>V->I at 648: in dbSNP:rs16945930</li><li>V->I at 687: in dbSNP:rs16945928</li><li>K->R at 735: in dbSNP:rs16945926</li><li>H->R at 1344: in dbSNP:rs16945916</li>	transport	GO:0006810							<li>rs11863236</li><li>rs17822931</li><li>rs16945930</li><li>rs17822471</li><li>rs16945926</li><li>rs16945916</li><li>rs16945988</li><li>rs16945928</li>	2
Q96J77	89882		<li>L->F at 118: in dbSNP:rs3847262</li>									rs3847262	2
Q96J86	116159		<li>R->H at 95: in dbSNP:rs35253087</li><li>P->S at 111</li>									rs35253087	2
Q96J87	60677		<li>R->P at 152: in dbSNP:rs34566074</li>									rs34566074	2
Q96J92	65266		<li>E->D at 434: in an ovarian mucinous carcinoma sample; somatic mutation</li><li>E->K at 562: in PHAII, MIM: 145260</li><li>D->A at 564: in PHAII, MIM: 145260</li><li>Q->E at 565: in PHAII, MIM: 145260</li><li>R->W at 677: in dbSNP:rs9896991, MIM: 145260</li><li>P->L at 813, MIM: 145260</li><li>P->S at 961: in dbSNP:rs2290041, MIM: 145260</li><li>P->S at 992: in a metastatic melanoma sample; somatic mutation, MIM: 145260</li><li>L->P at 1013, MIM: 145260</li><li>R->C at 1185: in PHAII, MIM: 145260</li>								Pseudohypoaldosteronism type II (PHAII) [MIM:145260]	<li>rs9896991</li><li>rs2290041</li>	2
Q96J94	9271		<li>K->N at 491: in dbSNP:rs17856812</li><li>R->K at 527: in dbSNP:rs1106042</li><li>L->P at 575: in dbSNP:rs17852568</li>									<li>rs17852568</li><li>rs17856812</li><li>rs1106042</li>	2
Q96JA1	26018		<li>L->V at 24: in dbSNP:rs1403626</li><li>M->V at 615: in dbSNP:rs2306272</li><li>G->S at 926: in dbSNP:rs9877201</li><li>A->T at 957: in dbSNP:rs332373</li><li>G->A at 993: in dbSNP:rs2279289</li><li>P->R at 1031: in dbSNP:rs332374</li><li>Q->P at 1053: in dbSNP:rs2279290</li>									<li>rs2306272</li><li>rs2279289</li><li>rs1403626</li><li>rs332373</li><li>rs332374</li><li>rs9877201</li><li>rs2279290</li>	2
Q96JA3	84725		<li>V->E at 368: in a breast cancer sample; somatic mutation</li>										2
Q96JA4	84689		<li>Y->N at 177: in dbSNP:rs7131283</li><li>R->G at 584: in dbSNP:rs3825020</li>									<li>rs3825020</li><li>rs7131283</li>	2
Q96JB1	1769		<li>N->S at 71: in dbSNP:rs6935293</li><li>G->R at 473: in dbSNP:rs1738254</li><li>I->V at 573: in dbSNP:rs3823430</li><li>A->T at 727: in dbSNP:rs1678674</li><li>G->E at 807: in dbSNP:rs874808</li><li>E->K at 1202: in dbSNP:rs9357283</li><li>T->M at 2226: in a colorectal cancer sample; somatic mutation</li><li>T->N at 2444: in dbSNP:rs862432</li><li>T->M at 4106: in dbSNP:rs1537232</li><li>I->V at 4271: in dbSNP:rs10484847</li>									<li>rs9357283</li><li>rs1738254</li><li>rs1537232</li><li>rs6935293</li><li>rs10484847</li><li>rs3823430</li><li>rs874808</li><li>rs862432</li><li>rs1678674</li>	2
Q96JB2	83548		<li>R->C at 620: in a breast cancer sample; somatic mutation</li>										2
Q96JB5	80279		<li>L->V at 324: in dbSNP:rs35054799</li>									rs35054799	2
Q96JB6	84171		<li>R->Q at 154: in dbSNP:rs33995374</li><li>D->A at 405: in dbSNP:rs1983864</li>									<li>rs1983864</li><li>rs33995374</li>	2
Q96JB8	58538		<li>S->G at 44: in dbSNP:rs6725443</li><li>V->I at 562: in dbSNP:rs11894115</li>									<li>rs11894115</li><li>rs6725443</li>	2
Q96JD4	85411		<li>C->S at 134: in dbSNP:rs766773</li>									rs766773	2
Q96JD6	83592		<li>C->G at 52: in dbSNP:rs35429729</li><li>K->R at 86: in dbSNP:rs17133693</li>									<li>rs17133693</li><li>rs35429729</li>	2
Q96JE7	89866		<li>H->R at 292: in dbSNP:rs12040910</li><li>G->R at 730: in dbSNP:rs943762</li><li>Q->H at 845: in dbSNP:rs7522194</li><li>P->A at 864: in dbSNP:rs591120</li><li>S->N at 873: in dbSNP:rs3813649</li>									<li>rs7522194</li><li>rs12040910</li><li>rs943762</li><li>rs591120</li><li>rs3813649</li>	2
Q96JE9	4135		<li>I->M at 247: in dbSNP:rs12225010</li>									rs12225010	2
Q96JF0	84620		<li>G->R at 154: in dbSNP:rs3796110</li><li>I->V at 341: in dbSNP:rs12615112</li>									<li>rs12615112</li><li>rs3796110</li>	2
Q96JF6	84622		<li>I->T at 171: in dbSNP:rs9908414</li><li>V->G at 199: in dbSNP:rs3853648</li>									<li>rs3853648</li><li>rs9908414</li>	2
Q96JG9	84627		<li>R->S at 366: in dbSNP:rs11640794</li><li>K->E at 1162: in dbSNP:rs7197071</li><li>P->L at 1420: in dbSNP:rs4782300</li><li>R->K at 2129: in dbSNP:rs13334190</li><li>G->R at 2358: in dbSNP:rs12598474</li><li>L->Q at 2670: in dbSNP:rs3812956</li><li>A->T at 2710: in dbSNP:rs3812955</li><li>D->V at 2749: in dbSNP:rs3812954</li><li>H->R at 2848: in dbSNP:rs1983014</li><li>E->Q at 3630: in dbSNP:rs1105066</li><li>T->A at 3636: in dbSNP:rs904783</li>									<li>rs904783</li><li>rs12598474</li><li>rs13334190</li><li>rs1105066</li><li>rs1983014</li><li>rs3812954</li><li>rs4782300</li><li>rs3812956</li><li>rs3812955</li><li>rs7197071</li><li>rs11640794</li>	2
Q96JH8	55698		<li>D->N at 239: in dbSNP:rs3763384</li><li>H->D at 412: in dbSNP:rs2292498</li><li>G->S at 886: in dbSNP:rs414035</li>									<li>rs414035</li><li>rs2292498</li><li>rs3763384</li>	2
Q96JI7	80208		<li>Y->C at 396: in dbSNP:rs3759875</li><li>S->F at 463: in dbSNP:rs3759871</li>									<li>rs3759875</li><li>rs3759871</li>	2
Q96JJ3	63916		<li>E->D at 695: in dbSNP:rs34630674</li>									rs34630674	2
Q96JJ7	54495		<li>P->S at 61: in dbSNP:rs11557684</li>									rs11557684	2
Q96JK9	55534		<li>Missing  at 764: in dbSNP:rs3051167 and dbSNP:rs35574913</li>									rs3051167 and dbSNP:rs35574913	2
Q96JL9	84449		<li>A->E at 251: in dbSNP:rs3885179</li><li>A->V at 537: in dbSNP:rs3764626</li>									<li>rs3764626</li><li>rs3885179</li>	2
Q96JM3	283489		<li>L->V at 568: in dbSNP:rs3764522</li><li>K->R at 591: in dbSNP:rs35564629</li><li>P->R at 604: in dbSNP:rs12428067</li>									<li>rs3764522</li><li>rs12428067</li><li>rs35564629</li>	2
Q96JM4	84125		<li>I->N at 29: in dbSNP:rs7312075</li><li>C->Y at 83: in dbSNP:rs3765044</li><li>A->T at 912: in dbSNP:rs17012533</li>									<li>rs7312075</li><li>rs17012533</li><li>rs3765044</li>	2
Q96JM7	84456		<li>T->N at 183: in dbSNP:rs9388768</li>									rs9388768	2
Q96JN2	64753		<li>D->H at 218: in dbSNP:rs3816887</li><li>E->Q at 1049: in dbSNP:rs4728137</li>									<li>rs4728137</li><li>rs3816887</li>	2
Q96JN8	84461		<li>Q->H at 1019: in dbSNP:rs3809813</li>									rs3809813	2
Q96JP0	56929		<li>D->N at 434: in a breast cancer sample; somatic mutation</li><li>D->N at 462: in a breast cancer sample; somatic mutation</li>										2
Q96JP5	80829		<li>V->I at 37: in dbSNP:rs17854702</li><li>S->G at 207: in dbSNP:rs8373</li>									<li>rs8373</li><li>rs17854702</li>	2
Q96JP9	92211		<li>H->Q at 53: in dbSNP:rs12781048</li><li>A->T at 212</li><li>A->V at 243: in dbSNP:rs7086200</li><li>P->A at 532</li>									<li>rs12781048</li><li>rs7086200</li>	2
Q96JQ0	8642		<li>R->W at 1583: in a colorectal cancer sample; somatic mutation</li><li>T->M at 1949: in dbSNP:rs4758443</li><li>V->I at 2331: in dbSNP:rs7924553</li><li>R->C at 2359: in dbSNP:rs2659875</li>									<li>rs7924553</li><li>rs4758443</li><li>rs2659875</li>	2
Q96JQ2	79789		<li>P->L at 963: in dbSNP:rs10149705</li>									rs10149705	2
Q96JQ5	51338		<li>K->E at 52: in dbSNP:rs10750931</li><li>M->V at 178: in dbSNP:rs6591561</li>									<li>rs10750931</li><li>rs6591561</li>	2
Q96JS3	84547		<li>G->E at 244: in dbSNP:rs3800324</li><li>G->R at 244: in dbSNP:rs3800324</li><li>Q->E at 248: in dbSNP:rs3800325</li><li>P->L at 256: in dbSNP:rs3800326</li><li>N->S at 398: in dbSNP:rs33932084</li><li>M->I at 592: in dbSNP:rs16893917</li><li>I->V at 678: in dbSNP:rs1997660</li><li>H->D at 806: in dbSNP:rs6456811</li>									<li>rs3800326</li><li>rs1997660</li><li>rs3800325</li><li>rs6456811</li><li>rs16893917</li><li>rs33932084</li><li>rs3800324</li>	2
Q96JX3	84947		<li>S->T at 543: in dbSNP:rs17849527</li>									rs17849527	2
Q96JY0	84944		<li>S->A at 41: in dbSNP:rs11578336</li>									rs11578336	2
Q96K12	55711		<li>F->S at 326: in dbSNP:rs17400011</li><li>I->T at 329: in dbSNP:rs17404064</li>									<li>rs17400011</li><li>rs17404064</li>	2
Q96K30	84934		<li>S->W at 113: in dbSNP:rs16942601</li><li>T->K at 220: in dbSNP:rs34831139</li>									<li>rs16942601</li><li>rs34831139</li>	2
Q96K58	79759		<li>L->V at 25: in dbSNP:rs2032917</li><li>A->T at 66: in a breast cancer sample; somatic mutation</li><li>G->S at 286: in a breast cancer sample; somatic mutation</li><li>G->E at 304: in dbSNP:rs17851949</li><li>T->R at 331: in a breast cancer sample; somatic mutation</li><li>A->V at 447: in dbSNP:rs8046978</li><li>R->Q at 556: in a breast cancer sample; somatic mutation</li>									<li>rs17851949</li><li>rs2032917</li><li>rs8046978</li>	2
Q96K62	84878		<li>D->E at 293: in dbSNP:rs35430780</li>									rs35430780	2
Q96K76	55031		<li>V->G at 163: in dbSNP:rs11022079</li>									rs11022079	2
Q96K78	84873		<li>K->E at 151: in dbSNP:rs1144122</li><li>T->S at 645: in dbSNP:rs16842529</li><li>R->H at 756: in dbSNP:rs9872512</li>									<li>rs9872512</li><li>rs16842529</li><li>rs1144122</li>	2
Q96KA5	81037		<li>K->N at 313: in a breast cancer sample; somatic mutation</li><li>T->M at 537: in dbSNP:rs33955038</li>									rs33955038	2
Q96KC9	85438		<li>K->Q at 76: in dbSNP:rs3796706</li><li>I->T at 211: in dbSNP:rs1351419</li><li>W->G at 298: in dbSNP:rs2291182</li>									<li>rs2291182</li><li>rs1351419</li><li>rs3796706</li>	2
Q96KD3	84691		<li>S->L at 228: in dbSNP:rs6949056</li><li>E->K at 242: in dbSNP:rs6971091</li>									<li>rs6949056</li><li>rs6971091</li>	2
Q96KF2	84366		<li>A->V at 4: in dbSNP:rs34734055</li>									rs34734055	2
Q96KG9	57410		<li>P->L at 479: in dbSNP rsrs55977709</li><li>H->Y at 495: in a metastatic melanoma sample; somatic mutation</li><li>Q->H at 663: in dbSNP rsrs56076708</li><li>W->S at 755: in dbSNP rsrs56077405</li>									<li>rs56077405</li><li>rs55977709</li><li>rs56076708</li>	2
Q96KJ4			<li>A->T at 139: in dbSNP:rs12599363</li><li>D->V at 463: in dbSNP:rs12599363</li><li>S->G at 597: in dbSNP:rs9746539</li>									<li>rs12599363</li><li>rs9746539</li>	2
Q96KJ9	84701		<li>R->H at 161: in dbSNP:rs11907253</li>									rs11907253	2
Q96KK3	3787		<li>I->V at 489: in dbSNP:rs734784</li><li>Q->R at 508: in dbSNP:rs7264544</li>									<li>rs7264544</li><li>rs734784</li>	2
Q96KK4	442194		<li>P->S at 57: in dbSNP:rs17184016</li><li>F->L at 60: in dbSNP:rs2074469</li><li>R->S at 89: in dbSNP:rs11755182</li><li>M->V at 100: in dbSNP:rs17177632</li><li>R->C at 121: in dbSNP:rs17177639</li><li>R->W at 138: in dbSNP:rs17177646</li><li>P->S at 160: in dbSNP:rs2074468</li><li>F->L at 161: in dbSNP:rs2074467</li><li>P->Q at 174: in dbSNP:rs2074466</li><li>V->M at 246: in dbSNP:rs2074464</li><li>L->I at 255: in dbSNP:rs17177674</li><li>M->R at 310: in dbSNP:rs11968123</li>									<li>rs2074466</li><li>rs17177639</li><li>rs11755182</li><li>rs2074467</li><li>rs2074468</li><li>rs2074469</li><li>rs17184016</li><li>rs11968123</li><li>rs17177632</li><li>rs17177674</li><li>rs2074464</li><li>rs17177646</li>	2
Q96KM6	57473		<li>M->V at 372: in dbSNP:rs817326</li><li>A->T at 453: in dbSNP:rs6062599</li>									<li>rs817326</li><li>rs6062599</li>	2
Q96KN3	63876		<li>E->K at 110: in dbSNP:rs34936365</li><li>Missing at 447</li>									rs34936365	2
Q96KN7	57096		<li>K->E at 192: in dbSNP:rs6571751</li><li>A->S at 547: in CORD9; dbSNP:rs10151259: in dbSNP rsrs61722408,rs34263042,rs10151259, MIM: 608194</li><li>S->L at 601: in dbSNP:rs3748360, MIM: 608194</li><li>G->E at 746: in LCA6, MIM: 605446</li><li>R->L at 827: in CORD9: in dbSNP rsrs28937883, MIM: 608194</li><li>Q->E at 1033: in dbSNP:rs3748361, MIM: 608194</li><li>D->G at 1114: in LCA6; dbSNP:rs17103671, MIM: 605446</li>								<li>Cone-rod dystrophy type 9 (CORD9) [MIM:608194]</li><li>Leber congenital amaurosis type 6 (LCA6) [MIM:605446]</li>	<li>rs3748361</li><li>rs3748360</li><li>rs6571751</li><li>rs10151259</li><li>rs34263042</li><li>rs28937883</li><li>rs61722408</li><li>rs17103671</li>	2
Q96KN8	117245		<li>G->S at 31: in dbSNP:rs10897424</li><li>A->P at 93: in dbSNP:rs940611</li><li>Q->R at 214: in dbSNP:rs35735923</li><li>A->V at 258: in dbSNP:rs35375575</li>									<li>rs10897424</li><li>rs35375575</li><li>rs940611</li><li>rs35735923</li>	2
Q96KN9	219770		<li>A->V at 90: in dbSNP:rs35398622</li><li>R->H at 269: in a colorectal cancer sample; somatic mutation</li><li>G->R at 271: in a colorectal cancer sample; somatic mutation</li>									rs35398622	2
Q96KP1	55770		<li>N->T at 195: in dbSNP:rs35600069</li>									rs35600069	2
Q96KQ7	10919		<li>T->N at 55: in dbSNP:rs7887</li><li>Y->F at 1165: in dbSNP:rs13919</li>									<li>rs7887</li><li>rs13919</li>	2
Q96KR1	51663		<li>V->I at 461: in dbSNP:rs4867440</li><li>I->T at 520: in dbSNP:rs1051489</li>									<li>rs1051489</li><li>rs4867440</li>	2
Q96KR6	116151		<li>P->S at 126: in dbSNP:rs6099115</li>									rs6099115	2
Q96KR7	116154		<li>P->L at 154: in dbSNP:rs2277759</li>									rs2277759	2
Q96KV6	54718		<li>G->D at 79: in dbSNP:rs7745238</li><li>V->I at 148: in dbSNP:rs10946829</li><li>N->S at 300: in dbSNP:rs2893848</li>									<li>rs2893848</li><li>rs7745238</li><li>rs10946829</li>	2
Q96KV7	197335		<li>S->T at 165: in dbSNP:rs13337278</li><li>P->L at 250: in dbSNP:rs11642546</li><li>V->A at 537: in dbSNP:rs3803697</li><li>P->T at 1001: in dbSNP:rs4984906</li><li>R->H at 1492: in dbSNP:rs7190775</li><li>C->R at 1555: in dbSNP:rs11866949</li>									<li>rs13337278</li><li>rs4984906</li><li>rs11642546</li><li>rs7190775</li><li>rs11866949</li><li>rs3803697</li>	2
Q96KW9	122258		<li>R->W at 25: in a colorectal cancer sample; somatic mutation</li><li>V->D at 111: in dbSNP:rs10816</li>									rs10816	2
Q96KX1	132989		<li>S->Y at 36: in dbSNP:rs1550931</li>									rs1550931	2
Q96L03	128153		<li>N->S at 16: in dbSNP:rs34652544</li>									rs34652544	2
Q96L08	203328		<li>K->E at 136: in dbSNP:rs1131773</li><li>S->T at 140: in a breast cancer sample; somatic mutation</li>									rs1131773	2
Q96L12	125972		<li>L->F at 8: in dbSNP:rs17851207 and dbSNP:rs11544148</li><li>D->G at 248: in dbSNP:rs10411092</li><li>V->I at 274: in dbSNP:rs12459238</li><li>D->N at 284: in dbSNP:rs10404156</li>									<li>rs10404156</li><li>rs10411092</li><li>rs12459238</li><li>rs17851207 and dbSNP:rs11544148</li>	2
Q96L16			<li>N->S at 52: in dbSNP:rs11885953</li>									rs11885953	2
Q96L34	57787		<li>R->Q at 377: in dbSNP rsrs35070611</li><li>R->C at 418: in a colorectal adenocarcinoma sample; somatic mutation</li>									rs35070611	2
Q96L73	64324		<li>V->L at 614: in dbSNP:rs3733875</li><li>A->T at 691: in dbSNP rsrs28932177</li><li>S->P at 726: in dbSNP:rs28932178</li><li>A->P at 1036: in dbSNP rsrs28932179</li><li>L->I at 1091: in dbSNP rsrs35597015</li><li>H->L at 1616: in Sotos syndrome, MIM: 117550</li><li>L->P at 1637: in Sotos syndrome, MIM: 117550</li><li>C->W at 1674: in Sotos syndrome, MIM: 117550</li><li>I->N at 1687: in Sotos syndrome, MIM: 117550</li><li>G->V at 1792: in Sotos syndrome, MIM: 117550</li><li>C->R at 1925: in Sotos syndrome, MIM: 117550</li><li>G->D at 1955: in Sotos syndrome, MIM: 117550</li><li>R->Q at 1984: in Sotos syndrome, MIM: 117550</li><li>Y->C at 1997: in WES, MIM: 277590</li><li>R->Q at 2005: in Sotos syndrome, MIM: 117550</li><li>R->Q at 2017: in Sotos syndrome, MIM: 117550</li><li>R->W at 2017: in Sotos syndrome, MIM: 117550</li><li>H->Q at 2143: in WES, MIM: 277590</li><li>C->S at 2183: in WES, MIM: 277590</li><li>M->I at 2250: in dbSNP rsrs35848863, MIM: 277590</li><li>M->T at 2261: in dbSNP rsrs34165241, MIM: 277590</li>								<li>Weaver syndrome (WES) [MIM:277590]</li><li>Sotos syndrome [MIM:117550]</li>	<li>rs34165241</li><li>rs3733875</li><li>rs28932179</li><li>rs35597015</li><li>rs28932177</li><li>rs28932178</li><li>rs35848863</li>	2
Q96L91	57634		<li>T->I at 1308: in dbSNP:rs13377636</li>									rs13377636	2
Q96L93	55614		<li>K->T at 772: in a breast cancer sample; somatic mutation</li><li>G->R at 810: in dbSNP:rs2236145</li><li>R->S at 824: in dbSNP:rs2236144</li><li>M->T at 1027: in dbSNP:rs6034464</li><li>N->S at 1119: in dbSNP:rs8123195</li>									<li>rs6034464</li><li>rs2236145</li><li>rs2236144</li><li>rs8123195</li>	2
Q96L96	57538		<li>R->H at 336: in dbSNP rsrs34407151</li><li>T->I at 338: in dbSNP rsrs56015306</li><li>T->S at 414: in dbSNP:rs3803403</li><li>Q->E at 433: in a lung large cell carcinoma sample; somatic mutation</li><li>G->E at 579: in dbSNP:rs3803405</li><li>Q->R at 602: in dbSNP rsrs55702300</li><li>G->D at 663: in dbSNP rsrs34409363</li><li>T->M at 761: in dbSNP:rs16974569</li><li>R->L at 836: in dbSNP rsrs34906636</li><li>E->D at 929: in dbSNP rsrs56191073</li><li>L->P at 1299: in dbSNP:rs306197</li><li>G->E at 1364: in a metastatic melanoma sample; somatic mutation</li><li>R->W at 1412: in dbSNP rsrs55752937</li><li>A->D at 1557: in dbSNP rsrs34775428</li><li>L->P at 1622: in dbSNP:rs187316</li>									<li>rs34906636</li><li>rs34407151</li><li>rs55702300</li><li>rs3803403</li><li>rs56191073</li><li>rs55752937</li><li>rs16974569</li><li>rs34775428</li><li>rs187316</li><li>rs306197</li><li>rs3803405</li><li>rs34409363</li><li>rs56015306</li>	2
Q96LA5	79368		<li>I->N at 202: in dbSNP:rs16839100</li>									rs16839100	2
Q96LA6	115350		<li>V->M at 124: in dbSNP:rs12078586</li>									rs12078586	2
Q96LA9	117196		<li>F->L at 8: in dbSNP:rs2468774</li><li>N->K at 25: in dbSNP:rs2445180</li><li>Y->C at 54: in dbSNP:rs1869788</li><li>S->L at 83: in dbSNP:rs2445179</li><li>A->V at 182: in dbSNP:rs11024532</li><li>N->S at 245: in dbSNP:rs7102322</li>									<li>rs1869788</li><li>rs11024532</li><li>rs2445179</li><li>rs2468774</li><li>rs2445180</li><li>rs7102322</li>	2
Q96LB0	117195		<li>C->R at 82: in dbSNP:rs12291017</li><li>D->N at 169: in dbSNP:rs4274188</li>									<li>rs4274188</li><li>rs12291017</li>	2
Q96LB1	117194		<li>N->H at 16: in dbSNP:rs11024970</li><li>V->I at 43: in dbSNP:rs11823569</li><li>N->S at 62: in dbSNP:rs10833049</li><li>F->L at 78</li>									<li>rs11823569</li><li>rs11024970</li><li>rs10833049</li>	2
Q96LB2	259249		<li>I->V at 36: in dbSNP:rs11024885</li>									rs11024885	2
Q96LB3	80173		<li>I->M at 55: in dbSNP:rs10812505</li><li>T->A at 110: in dbSNP:rs12004404</li><li>F->L at 224: in dbSNP:rs17694549</li><li>N->T at 355: in dbSNP:rs34628525</li><li>T->I at 597: in dbSNP:rs3429</li>									<li>rs10812505</li><li>rs17694549</li><li>rs12004404</li><li>rs3429</li><li>rs34628525</li>	2
Q96LB4	127124		<li>E->Q at 54: in dbSNP:rs16843254</li>									rs16843254	2
Q96LB8	57115		<li>P->L at 3: in dbSNP:rs12096209</li><li>I->L at 13: in dbSNP:rs3006458</li><li>Q->R at 92: in dbSNP:rs3006453</li><li>G->V at 192: in dbSNP:rs3006448</li><li>V->I at 213: in dbSNP:rs12063091</li><li>D->N at 301: in dbSNP:rs35347202</li>									<li>rs3006448</li><li>rs3006458</li><li>rs3006453</li><li>rs12096209</li><li>rs35347202</li><li>rs12063091</li>	2
Q96LB9	114771		<li>G->S at 126: in dbSNP:rs843971</li>									rs843971	2
Q96LI9	254158		<li>R->C at 24: in dbSNP:rs2707164</li><li>R->H at 187: in dbSNP:rs16982852</li>									<li>rs16982852</li><li>rs2707164</li>	2
Q96LJ7	115817		<li>T->I at 241: in dbSNP:rs10134537</li>									rs10134537	2
Q96LL9	84277		<li>G->R at 34: in dbSNP:rs1128349</li><li>F->L at 167: in dbSNP:rs13244259</li>									<li>rs1128349</li><li>rs13244259</li>	2
Q96LM5			<li>A->V at 46: in dbSNP:rs17037864</li><li>S->G at 75: in dbSNP:rs662473</li><li>Y->C at 84: in dbSNP:rs17037858</li><li>G->E at 93: in dbSNP:rs619128</li><li>R->H at 134: in dbSNP:rs10517695</li>									<li>rs662473</li><li>rs10517695</li><li>rs17037864</li><li>rs619128</li><li>rs17037858</li>	2
Q96LM6	200523		<li>D->N at 24: in dbSNP:rs35750657</li>									rs35750657	2
Q96LM9			<li>K->E at 141: in dbSNP:rs7261862</li>									rs7261862	2
Q96LP6	374470		<li>D->E at 11: in dbSNP:rs10778257</li><li>P->R at 182: in dbSNP:rs7484376</li>									<li>rs7484376</li><li>rs10778257</li>	2
Q96LQ0	145376		<li>T->I at 83: in dbSNP:rs6573560</li>									rs6573560	2
Q96LR1			<li>Y->C at 132: in dbSNP:rs393152</li>									rs393152	2
Q96LS8	348738		<li>P->L at 90: in dbSNP:rs13406078</li><li>W->S at 119: in dbSNP:rs7423163</li>									<li>rs13406078</li><li>rs7423163</li>	2
Q96LT6	148304		<li>L->F at 146: in dbSNP:rs7550857</li>									rs7550857	2
Q96LT7	203228		<li>N->S at 207: in dbSNP:rs17769294</li>									rs17769294	2
Q96LU7			<li>S->L at 88: in dbSNP:rs35051828</li><li>A->S at 118: in dbSNP:rs11177991</li><li>M->L at 210: in dbSNP:rs10879065</li>									<li>rs10879065</li><li>rs11177991</li><li>rs35051828</li>	2
Q96LW4	201973		<li>R->Q at 168: in dbSNP:rs2463447</li><li>T->K at 505: in dbSNP:rs14969</li>									<li>rs2463447</li><li>rs14969</li>	2
Q96LW9	64288		<li>T->S at 50: in dbSNP:rs853678</li><li>A->P at 128: in dbSNP:rs6922302</li><li>K->R at 205: in dbSNP:rs853684</li><li>R->Q at 222: in dbSNP:rs34223404</li>									<li>rs853684</li><li>rs6922302</li><li>rs34223404</li><li>rs853678</li>	2
Q96LX7	149483		<li>P->L at 321: in dbSNP:rs3014242</li><li>I->V at 525: in dbSNP:rs2297654</li>									<li>rs2297654</li><li>rs3014242</li>	2
Q96LX8	146434		<li>T->S at 30: in dbSNP:rs2270493</li>									rs2270493	2
Q96LY2	91409		<li>T->M at 169: in dbSNP:rs2599971</li><li>R->H at 346: in dbSNP:rs3177472</li>									<li>rs2599971</li><li>rs3177472</li>	2
Q96LZ2	139422		<li>F->S at 50: in dbSNP:rs1368769</li><li>R->Q at 65: in dbSNP:rs12557898</li>									<li>rs1368769</li><li>rs12557898</li>	2
Q96LZ7	151393		<li>G->D at 259: in dbSNP:rs4670800</li>									rs4670800	2
Q96M02	118611		<li>M->I at 57: in dbSNP:rs11558415</li><li>R->H at 134: in dbSNP:rs11245008</li><li>D->N at 262: in dbSNP:rs11245007</li><li>D->E at 531: in dbSNP:rs12412320</li>									<li>rs11245007</li><li>rs11245008</li><li>rs12412320</li><li>rs11558415</li>	2
Q96M11	219844		<li>C->R at 31: in dbSNP:rs667782</li><li>D->G at 211: in HLS1; altered subcellular localization, becomes localized to nuclear structures, MIM: 236680</li>	localization	GO:0051179						Hydrolethalus syndrome type 1 (HLS1) [MIM:236680]	rs667782	2
Q96M29	146279		<li>A->T at 59: in dbSNP:rs16957557</li><li>H->R at 196: in dbSNP:rs16957546</li><li>M->T at 239: in dbSNP:rs17684500</li><li>Q->R at 315: in dbSNP:rs2719710</li>									<li>rs17684500</li><li>rs2719710</li><li>rs16957546</li><li>rs16957557</li>	2
Q96M32	122481		<li>R->Q at 102: in dbSNP:rs2369679</li>									rs2369679	2
Q96M34	152405		<li>N->T at 45: in dbSNP:rs4687838</li><li>D->G at 99: in dbSNP:rs11550908</li><li>Q->H at 193: in dbSNP:rs9859242</li><li>G->S at 312: in dbSNP:rs4077930</li><li>D->E at 473: in dbSNP:rs9289122</li>									<li>rs9289122</li><li>rs4687838</li><li>rs4077930</li><li>rs11550908</li><li>rs9859242</li>	2
Q96M53	219793		<li>Q->R at 237: in dbSNP:rs2254174</li>									rs2254174	2
Q96M61	286514		<li>S->P at 40: in dbSNP:rs5944317</li>									rs5944317	2
Q96M63	93233		<li>R->H at 329: in dbSNP:rs35361179</li><li>P->L at 468: in dbSNP:rs35461177</li>									<li>rs35461177</li><li>rs35361179</li>	2
Q96M66			<li>R->H at 37: in dbSNP:rs350229</li><li>R->S at 171: in dbSNP:rs11648228</li>									<li>rs350229</li><li>rs11648228</li>	2
Q96M69	136332		<li>D->Y at 302: in dbSNP:rs17167553</li><li>A->V at 661: in dbSNP:rs35149449</li>									<li>rs17167553</li><li>rs35149449</li>	2
Q96M78			<li>S->L at 92: in dbSNP:rs13258808</li>									rs13258808	2
Q96M83	221016		<li>K->T at 449: in dbSNP:rs12268559</li>									rs12268559	2
Q96M86	144132		<li>R->H at 98: in dbSNP:rs10769699</li><li>I->T at 934: in dbSNP:rs11604362</li>									<li>rs11604362</li><li>rs10769699</li>	2
Q96M89	165055		<li>D->Y at 99: in dbSNP:rs35794776</li><li>R->K at 115: in dbSNP:rs6740879</li>									<li>rs6740879</li><li>rs35794776</li>	2
Q96M91	220136		<li>R->C at 231: in dbSNP:rs12607385</li><li>E->K at 294: in dbSNP:rs35193847</li>									<li>rs12607385</li><li>rs35193847</li>	2
Q96M95	146849		<li>A->T at 144: in dbSNP:rs2288156</li>									rs2288156	2
Q96M96	121512		<li>M->R at 298: in fibroblasts from a CMT4H patient; absent from patient's peripheral nerve where splicing defects and aberrant transcripts are detected: in dbSNP rsrs63749871</li><li>M->T at 298: in CMT4H, MIM: 609311</li>								Charcot-Marie-Tooth disease type 4H (CMT4H) [MIM:609311]	rs63749871	2
Q96MA6	158067		<li>I->T at 5: in dbSNP:rs2231400</li><li>D->G at 130: in dbSNP:rs17407084</li>									<li>rs17407084</li><li>rs2231400</li>	2
Q96MC2	92749		<li>K->E at 357: in dbSNP:rs3795958</li><li>W->R at 399: in dbSNP:rs939820</li><li>V->F at 633: in dbSNP:rs12623642</li><li>S->I at 702: in dbSNP:rs3172008</li>									<li>rs12623642</li><li>rs939820</li><li>rs3172008</li><li>rs3795958</li>	2
Q96MC9			<li>G->A at 213: in dbSNP:rs2336940</li><li>P->S at 233: in dbSNP:rs11118256</li><li>T->M at 259: in dbSNP:rs17024805</li>									<li>rs17024805</li><li>rs11118256</li><li>rs2336940</li>	2
Q96MD2	144577		<li>I->M at 139: in dbSNP:rs2335390</li><li>S->A at 443: in dbSNP:rs699638</li>									<li>rs2335390</li><li>rs699638</li>	2
Q96MF6	93058		<li>P->H at 79: in dbSNP:rs11543258</li><li>P->S at 231: in dbSNP:rs3184994</li>									<li>rs11543258</li><li>rs3184994</li>	2
Q96MG2	126306		<li>V->A at 92: in dbSNP:rs10426549</li><li>R->Q at 233: in dbSNP:rs35356610</li>									<li>rs10426549</li><li>rs35356610</li>	2
Q96MH7	375444		<li>S->R at 266: in a breast cancer sample; somatic mutation</li>										2
Q96MI9	123624		<li>P->L at 417: in dbSNP:rs8029810</li><li>S->P at 435: in dbSNP:rs11857527</li>									<li>rs11857527</li><li>rs8029810</li>	2
Q96MK2	140876		<li>L->P at 580: in dbSNP:rs6020624</li>									rs6020624	2
Q96MM6	116835		<li>V->L at 23: in dbSNP:rs34414870</li>									rs34414870	2
Q96MN2	147945		<li>A->T at 144: in dbSNP:rs441827</li><li>E->D at 383: in dbSNP:rs17857373</li><li>P->Q at 390: in dbSNP:rs17857374</li><li>R->H at 708: in dbSNP:rs12462372</li><li>L->M at 774: in dbSNP:rs17854614</li><li>Q->L at 925: in dbSNP:rs302453</li>									<li>rs17857373</li><li>rs17857374</li><li>rs441827</li><li>rs17854614</li><li>rs302453</li><li>rs12462372</li>	2
Q96MN9	118738		<li>A->V at 72: in dbSNP:rs35618062</li><li>P->L at 106: in dbSNP:rs12251609</li><li>P->S at 249: in dbSNP:rs3814160</li>									<li>rs12251609</li><li>rs35618062</li><li>rs3814160</li>	2
Q96MP5	140831		<li>V->A at 259: in dbSNP:rs2903808</li>									rs2903808	2
Q96MR6	149465		<li>A->S at 183: in dbSNP:rs6663799</li><li>N->D at 241: in dbSNP:rs663824</li><li>C->S at 345: in dbSNP:rs11210805</li>									<li>rs11210805</li><li>rs663824</li><li>rs6663799</li>	2
Q96MR9	147741		<li>G->E at 186: in a colorectal cancer sample; somatic mutation</li><li>Y->C at 630: in dbSNP:rs10416098</li>									rs10416098	2
Q96MS0	64221		<li>L->P at 5: in HGPPS, MIM: 607313</li><li>I->L at 66: in HGPPS, MIM: 607313</li><li>E->K at 319: in HGPPS, MIM: 607313</li><li>G->E at 361: in HGPPS, MIM: 607313</li><li>R->H at 416: in dbSNP:rs3862618, MIM: 607313</li><li>V->M at 423: in dbSNP:rs4935898, MIM: 607313</li><li>R->P at 703: in HGPPS, MIM: 607313</li><li>S->P at 705: in HGPPS, MIM: 607313</li><li>Q->R at 1369: in dbSNP:rs35723495, MIM: 607313</li>								Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	<li>rs35723495</li><li>rs4935898</li><li>rs3862618</li>	2
Q96MT4	154386		<li>I->F at 2: in dbSNP:rs17135340</li><li>P->S at 43: in dbSNP:rs9503233</li>									<li>rs9503233</li><li>rs17135340</li>	2
Q96MT7	55779		<li>K->N at 284: in dbSNP:rs16845107</li>									rs16845107	2
Q96MT8	80254		<li>S->L at 651: in dbSNP:rs1127826</li>									rs1127826	2
Q96MU5			<li>S->R at 47: in dbSNP:rs493430</li>									rs493430	2
Q96MU7	91746		<li>H->R at 183: in dbSNP:rs3813832</li>									rs3813832	2
Q96MW5	84342		<li>L->R at 517: in dbSNP:rs3027</li>									rs3027	2
Q96MX3	197407		<li>V->A at 65: in dbSNP:rs12921440</li><li>I->V at 224: in dbSNP:rs34843513</li>									<li>rs34843513</li><li>rs12921440</li>	2
Q96MX6	116143		<li>M->V at 241: in dbSNP:rs13009282</li>									rs13009282	2
Q96MY7	145483		<li>G->A at 11: in dbSNP:rs11848954</li><li>L->P at 622: in dbSNP:rs17094077</li>									<li>rs11848954</li><li>rs17094077</li>	2
Q96MZ0	78997		<li>R->W at 141: in a colorectal cancer sample; somatic mutation</li>										2
Q96MZ4	152756		<li>H->R at 54: in dbSNP:rs3733418</li>									rs3733418	2
Q96N06	124045		<li>S->L at 45: in dbSNP:rs13329897</li>									rs13329897	2
Q96N16	152789		<li>K->R at 251</li><li>A->V at 375: in a colorectal cancer sample; somatic mutation</li>										2
Q96N20	7627		<li>V->A at 84: in dbSNP:rs17611866</li><li>Q->E at 228: in a breast cancer sample; somatic mutation</li>									rs17611866	2
Q96N22			<li>H->D at 15: in dbSNP:rs7248674</li><li>S->L at 226: in dbSNP:rs1818989</li>									<li>rs7248674</li><li>rs1818989</li>	2
Q96N38	148206		<li>R->K at 332: in dbSNP:rs2884554</li><li>I->V at 474: in dbSNP:rs10427116</li>									<li>rs10427116</li><li>rs2884554</li>	2
Q96N66	79143		<li>F->L at 261: in dbSNP:rs17855385</li><li>V->L at 415: in dbSNP:rs35909464</li>									<li>rs17855385</li><li>rs35909464</li>	2
Q96N76	131669		<li>R->W at 188: in dbSNP:rs34488036</li><li>S->T at 311: in dbSNP:rs35062810</li><li>R->C at 429: in dbSNP:rs9871671</li>									<li>rs35062810</li><li>rs9871671</li><li>rs34488036</li>	2
Q96N77	121274		<li>S->C at 231: in dbSNP:rs17851618</li><li>Q->P at 363: in dbSNP:rs2732481</li>									<li>rs17851618</li><li>rs2732481</li>	2
Q96N87	348932		<li>C->S at 12: in dbSNP:rs7728667</li><li>I->T at 32: in dbSNP:rs7705355</li><li>L->P at 478: in dbSNP:rs4073918</li>									<li>rs7728667</li><li>rs4073918</li><li>rs7705355</li>	2
Q96N96	221178		<li>R->W at 20: in dbSNP:rs7330736</li>									rs7330736	2
Q96NA8	203062		<li>F->L at 18: in dbSNP:rs7814359</li><li>R->P at 55: in dbSNP:rs33970858</li><li>T->A at 118: in dbSNP:rs10100935</li><li>V->I at 268: in dbSNP:rs10435683</li>									<li>rs7814359</li><li>rs10100935</li><li>rs33970858</li><li>rs10435683</li>	2
Q96NB3	91603		<li>I->V at 16: in dbSNP:rs8073825</li><li>S->P at 93: in dbSNP:rs8078059</li><li>Q->H at 99: in dbSNP:rs931196</li><li>F->L at 135: in dbSNP:rs8078217</li><li>S->T at 154: in dbSNP:rs3744355</li>									<li>rs8078217</li><li>rs931196</li><li>rs8078059</li><li>rs8073825</li><li>rs3744355</li>	2
Q96ND0			<li>R->H at 82: in a breast cancer sample; somatic mutation</li><li>V->E at 140: in a breast cancer sample; somatic mutation</li>										2
Q96ND8	147949		<li>F->I at 324: in dbSNP:rs12976917</li>									rs12976917	2
Q96NF6			<li>R->G at 26: in dbSNP:rs804285</li><li>I->V at 81: in dbSNP:rs809204</li><li>R->G at 95: in dbSNP:rs13281294</li>									<li>rs13281294</li><li>rs809204</li><li>rs804285</li>	2
Q96NG3	83538		<li>P->S at 4: in dbSNP:rs34516580</li><li>A->G at 18: in dbSNP:rs35516909</li>									<li>rs34516580</li><li>rs35516909</li>	2
Q96NG8	147948		<li>R->T at 69: in dbSNP:rs11883260</li>									rs11883260	2
Q96NH3	221322		<li>R->Q at 82: in dbSNP:rs7767455</li><li>I->V at 280: in dbSNP:rs9490157</li><li>K->T at 375: in dbSNP:rs9387944</li><li>I->V at 599: in dbSNP:rs7745023</li>									<li>rs7745023</li><li>rs7767455</li><li>rs9490157</li><li>rs9387944</li>	2
Q96NJ5	114792		<li>R->C at 5: in dbSNP:rs35143662</li><li>N->S at 129: in dbSNP:rs2294763</li><li>D->G at 146: in dbSNP:rs12662753</li>									<li>rs35143662</li><li>rs12662753</li><li>rs2294763</li>	2
Q96NL0	154661		<li>L->M at 47: in dbSNP:rs17852065</li><li>E->G at 206: in dbSNP:rs17852063</li><li>L->P at 440: in dbSNP:rs17856673</li>									<li>rs17856673</li><li>rs17852063</li><li>rs17852065</li>	2
Q96NL6	132320		<li>C->S at 441: in dbSNP:rs10028124</li>									rs10028124	2
Q96NL8	157657		<li>P->A at 19: in dbSNP:rs36096184</li>									rs36096184	2
Q96NM4	84969		<li>V->A at 223: in dbSNP:rs6103584</li>									rs6103584	2
Q96NR2	253868		<li>V->I at 121: in dbSNP:rs3934574</li>									rs3934574	2
Q96NR8	145226		<li>T->M at 49: in LCA3; aberrant activity in interconverting isomers of retinol and retinal: in dbSNP rsrs28940314, MIM: 604232</li><li>I->N at 51: in LCA3, MIM: 604232</li><li>L->I at 99: in LCA3; dbSNP:rs28940315, MIM: 604232</li><li>H->D at 151: in LCA3, MIM: 604232</li><li>H->N at 151: in LCA3, MIM: 604232</li><li>R->Q at 161: in dbSNP:rs17852293, MIM: 604232</li><li>S->P at 175: in LCA3, MIM: 604232</li><li>Y->C at 226: in LCA3; diminished activity in interconverting isomers of retinol and retinal: in dbSNP rsrs28940313, MIM: 604232</li><li>P->A at 230: in LCA3, MIM: 604232</li>								Leber congenital amaurosis type 3 (LCA3) [MIM:604232]	<li>rs28940314</li><li>rs28940315</li><li>rs17852293</li><li>rs28940313</li>	2
Q96NT1	266812		<li>E->Q at 154: in dbSNP:rs13109442</li>									rs13109442	2
Q96NT5	113235		<li>R->S at 113: in HFM; abolishes folate uptake, MIM: 229050</li><li>G->R at 147: in HFM; reduces folate uptake to 13% of normal levels, MIM: 229050</li><li>T->A at 295: in dbSNP:rs34552966, MIM: 229050</li><li>S->R at 318: in HFM; abolishes folate uptake, MIM: 229050</li><li>R->W at 376: in HFM; abolishes folate uptake, MIM: 229050</li><li>P->R at 425: in HFM; reduces folate uptake to 3.5% of normal levels, MIM: 229050</li>								Hereditary folate malabsorption (HFM) [MIM:229050]	rs34552966	2
Q96NU7	144193		<li>G->S at 3: in dbSNP:rs7955450</li><li>P->H at 360: in dbSNP:rs17024904</li>									<li>rs17024904</li><li>rs7955450</li>	2
Q96NW4	84079		<li>S->G at 657: in dbSNP:rs2287669</li><li>P->R at 761: in dbSNP:rs2302970</li>									<li>rs2302970</li><li>rs2287669</li>	2
Q96NW7	57554		<li>L->M at 235: in a breast cancer sample; somatic mutation</li><li>H->Y at 1054: in dbSNP:rs12069888</li>									rs12069888	2
Q96NX5	57172		<li>E->Q at 259: in dbSNP rsrs35561962</li><li>V->I at 329: in dbSNP:rs11119315</li><li>A->T at 443: in a breast infiltrating ductal carcinoma sample; somatic mutation</li>									<li>rs35561962</li><li>rs11119315</li>	2
Q96NY7	54102		<li>D->G at 632: in dbSNP:rs3171439</li>									rs3171439	2
Q96NY8	81607		<li>F->L at 53: in dbSNP:rs3737786</li>									rs3737786	2
Q96NZ9	118471		<li>E->G at 54: in PRAPV3</li><li>K->R at 69: in PRAPV4</li><li>G->S at 81: in dbSNP:rs34780987</li><li>R->H at 101: in dbSNP:rs4369319</li>									<li>rs34780987</li><li>rs4369319</li>	2
Q96P09	112401		<li>Y->H at 196: in dbSNP:rs8109165</li>									rs8109165	2
Q96P11	55695		<li>P->S at 183: in dbSNP:rs34913552</li>									rs34913552	2
Q96P15			<li>M->T at 148: in allele B</li><li>I->T at 181: in allele B and allele C</li>										2
Q96P16	55197		<li>Q->H at 21: in a breast cancer sample; somatic mutation</li>										2
Q96P20	114548		<li>I->T at 172: in CINCA, MIM: 607115</li><li>V->M at 198: in FCAS1 and MWS, MIM: 191900</li><li>R->L at 260: in CINCA, MIM: 607115</li><li>R->P at 260: in CINCA, MIM: 607115</li><li>R->W at 260: in FCAS1 and MWS, MIM: 191900</li><li>L->H at 264: in CINCA, MIM: 607115</li><li>D->G at 303: in CINCA, MIM: 607115</li><li>D->N at 303: in CINCA and MWS, MIM: 191900</li><li>L->P at 305: in FCAS1 and MWS, MIM: 191900</li><li>Q->L at 306: in CINCA, MIM: 607115</li><li>F->S at 309: in CINCA, MIM: 607115</li><li>T->M at 348: in MWS and CINCA, MIM: 191900</li><li>A->V at 352: in MWS, MIM: 191900</li><li>L->P at 353: in FCAS1, MIM: 120100</li><li>E->D at 354: in CINCA, MIM: 607115</li><li>H->R at 358: in CINCA, MIM: 607115</li><li>T->P at 405: in CINCA, MIM: 607115</li><li>T->I at 436: in CINCA, MIM: 607115</li><li>T->N at 436: in CINCA, MIM: 607115</li><li>A->T at 439: in MWS, MIM: 191900</li><li>A->V at 439: in FCAS1, MIM: 120100</li><li>R->K at 488: in FCAS1, MIM: 120100</li><li>F->C at 523: in FCAS1, MIM: 120100</li><li>F->L at 523: in CINCA, MIM: 607115</li><li>G->R at 569: in MWS, MIM: 191900</li><li>Y->C at 570: in CINCA, MIM: 607115</li><li>F->S at 573: in CINCA, MIM: 607115</li><li>E->G at 627: in FCAS1, MIM: 120100</li><li>L->F at 632: in CINCA, MIM: 607115</li><li>M->T at 662: in CINCA, MIM: 607115</li><li>Q->K at 703: in dbSNP:rs35829419, MIM: 607115</li><li>Y->C at 859: in CINCA, MIM: 607115</li>							Q6E1M8	<li>Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100]</li><li>Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]</li><li>Muckle-Wells syndrome (MWS) [MIM:191900]</li>	rs35829419	2
Q96P44	81578		<li>L->P at 277: in dbSNP:rs2764043</li><li>T->M at 343: in dbSNP:rs35471617</li><li>I->T at 495: in dbSNP:rs35583895</li><li>G->S at 560: in dbSNP:rs9382581</li><li>A->D at 747: in dbSNP:rs9464337</li><li>L->P at 821: in dbSNP:rs12209452</li><li>P->A at 827: in dbSNP:rs1555131</li>									<li>rs35583895</li><li>rs9382581</li><li>rs1555131</li><li>rs12209452</li><li>rs35471617</li><li>rs2764043</li><li>rs9464337</li>	2
Q96P56	117155		<li>E->G at 8: in dbSNP:rs2614835</li><li>V->I at 57: in dbSNP:rs8042868</li>									<li>rs8042868</li><li>rs2614835</li>	2
Q96P63	89777		<li>K->E at 227: in dbSNP:rs35582068</li><li>N->T at 289: in dbSNP:rs35352345</li><li>N->S at 338: in dbSNP:rs11664907</li>									<li>rs11664907</li><li>rs35352345</li><li>rs35582068</li>	2
Q96P64	119016		<li>E->K at 661: in dbSNP:rs15718</li>									rs15718	2
Q96P65	84109		<li>F->V at 61: in dbSNP:rs17438900</li><li>H->Q at 149: in dbSNP:rs11947418</li><li>L->S at 344: in dbSNP:rs2302310</li>									<li>rs17438900</li><li>rs2302310</li><li>rs11947418</li>	2
Q96P66	83550		<li>V->L at 124: in dbSNP:rs1190736</li><li>L->P at 376: in dbSNP:rs5931046</li>									<li>rs1190736</li><li>rs5931046</li>	2
Q96P69	27201		<li>R->S at 201: in dbSNP:rs17844778</li><li>A->T at 330: in dbSNP:rs11941659</li><li>R->H at 342: in dbSNP:rs9685931</li>									<li>rs11941659</li><li>rs9685931</li><li>rs17844778</li>	2
Q96P71	63941		<li>P->L at 254: in dbSNP:rs17124890</li>									rs17124890	2
Q96PB1	64921		<li>R->S at 386: in dbSNP:rs17855797</li>									rs17855797	2
Q96PC5	117153		<li>D->H at 436: in a breast cancer sample; somatic mutation</li>										2
Q96PD2	131566		<li>I->M at 144: in dbSNP:rs9838238</li><li>D->N at 723: in dbSNP:rs16840208</li>									<li>rs16840208</li><li>rs9838238</li>	2
Q96PD6	116255		<li>S->P at 162: in dbSNP:rs1868024</li>									rs1868024	2
Q96PD7	84649		<li>R->G at 317: in dbSNP:rs34421064</li><li>M->I at 361: in dbSNP:rs34113941</li>									<li>rs34421064</li><li>rs34113941</li>	2
Q96PE2	9828		<li>G->E at 450: in dbSNP:rs3741150</li><li>A->D at 1465: in dbSNP:rs2298808</li>									<li>rs3741150</li><li>rs2298808</li>	2
Q96PE6	114026		<li>R->K at 7: in dbSNP:rs10407445</li><li>E->K at 28: in dbSNP:rs2370134</li><li>L->M at 69: in dbSNP:rs4801200</li><li>N->D at 157: in dbSNP:rs7252632</li><li>G->R at 205: in dbSNP:rs35202951</li><li>I->V at 379: in dbSNP:rs4801433</li>									<li>rs35202951</li><li>rs2370134</li><li>rs7252632</li><li>rs4801433</li><li>rs4801200</li><li>rs10407445</li>	2
Q96PE7	84693		<li>A->V at 76: in dbSNP:rs11541017</li><li>R->L at 104: in dbSNP:rs6748672</li>									<li>rs6748672</li><li>rs11541017</li>	2
Q96PF2	23617		<li>K->R at 27: in dbSNP:rs3747052</li><li>M->V at 61: in dbSNP rsrs35532431</li><li>Y->C at 197: in dbSNP rsrs56279111</li><li>E->K at 244: in dbSNP:rs35048893</li><li>T->M at 280: in dbSNP:rs1052763</li>									<li>rs56279111</li><li>rs35048893</li><li>rs1052763</li><li>rs3747052</li><li>rs35532431</li>	2
Q96PI1	163778		<li>P->S at 45: in dbSNP:rs16834786</li>									rs16834786	2
Q96PL1	117156		<li>K->N at 33: in a breast cancer sample; somatic mutation</li>										2
Q96PL5	114625		<li>A->V at 4: in dbSNP:rs35757049</li><li>H->Y at 26: in dbSNP:rs33953680</li><li>G->S at 35: in Sc7 antigen</li><li>E->K at 47: in Sc5 antigen: in dbSNP rsrs56047316</li><li>G->R at 57: in Sc2 antigen: in dbSNP rsrs56025238</li><li>P->A at 60: in Sc4 antigen: in dbSNP rsrs56136737</li><li>R->Q at 81: in Sc6 antigen</li><li>DAQEGSVTLQI->CP at 103-113: in Sc-3 allele: in dbSNP rsrs55695242,rs56151267</li><li>Missing  at 114-475: in Sc-3 allele</li><li>C->R at 259: in dbSNP:rs35147822</li><li>G->E at 263: in dbSNP rsrs34441268</li>									<li>rs56136737</li><li>rs56047316</li><li>rs56151267</li><li>rs34441268</li><li>rs56025238</li><li>rs35757049</li><li>rs35147822</li><li>rs55695242</li><li>rs33953680</li>	2
Q96PN6	55811		<li>T->M at 234: in dbSNP:rs16859886</li><li>V->I at 697: in dbSNP:rs2071921</li>									<li>rs16859886</li><li>rs2071921</li>	2
Q96PN7	55809		<li>T->A at 431: in dbSNP:rs35162277</li><li>C->S at 834: in dbSNP:rs2295275</li><li>N->T at 1019: in dbSNP:rs35978318</li><li>D->N at 1187: in dbSNP:rs11751765</li>									<li>rs11751765</li><li>rs2295275</li><li>rs35162277</li><li>rs35978318</li>	2
Q96PN8	81629		<li>I->V at 71: in dbSNP:rs35508255</li><li>A->T at 140: in dbSNP rsrs55786268</li><li>S->L at 235: in dbSNP rsrs35457991</li>									<li>rs35457991</li><li>rs55786268</li><li>rs35508255</li>	2
Q96PP8	115362		<li>E->Q at 4: in dbSNP:rs17130763</li><li>T->M at 35: in dbSNP:rs3806339</li>									<li>rs3806339</li><li>rs17130763</li>	2
Q96PP9	115361		<li>K->E at 125: in dbSNP:rs17130745</li><li>I->V at 379: in dbSNP:rs1831240</li><li>Y->N at 541: in dbSNP:rs655260</li><li>M->I at 542: in dbSNP:rs1142886</li><li>M->I at 545: in dbSNP:rs1142889</li><li>M->L at 545: in dbSNP:rs1142888</li><li>E->K at 546: in dbSNP:rs1142890</li><li>L->M at 549: in dbSNP:rs608339</li><li>E->G at 551: in dbSNP:rs561042</li><li>E->K at 551: in dbSNP:rs561037</li>									<li>rs608339</li><li>rs1142890</li><li>rs1142888</li><li>rs1142889</li><li>rs561042</li><li>rs17130745</li><li>rs1142886</li><li>rs561037</li><li>rs655260</li><li>rs1831240</li>	2
Q96PQ1	89858		<li>P->H at 81: in dbSNP:rs2034891</li><li>P->T at 81: in dbSNP:rs2034891</li><li>A->V at 82: in dbSNP:rs3810110</li><li>H->Q at 217: in dbSNP:rs6509544</li><li>G->R at 218: in dbSNP:rs6509544</li><li>H->Y at 398: in dbSNP:rs11668530</li><li>T->M at 478: in dbSNP:rs3829658</li><li>Y->S at 494: in dbSNP:rs3752135</li><li>Y->C at 586: in dbSNP:rs7245807</li>									<li>rs2034891</li><li>rs3752135</li><li>rs3829658</li><li>rs6509544</li><li>rs3810110</li><li>rs11668530</li><li>rs7245807</li>	2
Q96PQ6			<li>Q->H at 19: in dbSNP:rs3752199</li>									rs3752199	2
Q96PQ7	51088		<li>I->L at 10: in dbSNP:rs2711941</li><li>G->S at 508: in dbSNP:rs34646863</li>									<li>rs2711941</li><li>rs34646863</li>	2
Q96PS8	89872		<li>R->Q at 15: in dbSNP:rs6668968</li><li>H->Y at 123: in dbSNP:rs6685323</li>									<li>rs6668968</li><li>rs6685323</li>	2
Q96PU4	115426		<li>I->N at 87: in a colorectal cancer sample; somatic mutation</li>										2
Q96PU8	9444		<li>R->Q at 336: in a colorectal cancer sample; somatic mutation</li>										2
Q96PV4	114824		<li>N->H at 107: in dbSNP:rs3810655</li><li>R->W at 349: in dbSNP:rs3810654</li>									<li>rs3810655</li><li>rs3810654</li>	2
Q96PV6	114823		<li>R->P at 242: in dbSNP:rs35061854</li><li>I->V at 520: in dbSNP:rs35336528</li>									<li>rs35061854</li><li>rs35336528</li>	2
Q96PV7	54540		<li>P->S at 816: in dbSNP:rs337382</li>									rs337382	2
Q96PW8			<li>V->I at 431: in dbSNP:rs468120</li>									rs468120	2
Q96PX1	114804		<li>P->H at 80: in dbSNP:rs2289602</li><li>G->R at 208: in dbSNP:rs11539879</li>									<li>rs11539879</li><li>rs2289602</li>	2
Q96PX8	114798		<li>L->M at 552: in dbSNP:rs7491932</li>									rs7491932	2
Q96PY0			<li>T->TRWGRHHCPFSK at 264: in dbSNP:rs7800178</li>									rs7800178	2
Q96PY5	114793		<li>Y->C at 352: in dbSNP:rs34119671</li><li>M->T at 504: in dbSNP:rs11897929</li>									<li>rs11897929</li><li>rs34119671</li>	2
Q96PY6	4750		<li>I->F at 10: in dbSNP rsrs34214559</li><li>E->K at 25: in a lung large cell carcinoma sample; somatic mutation</li><li>L->V at 76: in dbSNP rsrs35093214</li><li>A->P at 294: in a lung adenocarcinoma sample; somatic mutation</li><li>R->G at 355: in dbSNP:rs35763578</li><li>A->V at 463: in dbSNP:rs34540355</li><li>A->T at 598: in dbSNP:rs33933790</li><li>E->G at 724: in dbSNP rsrs34099167</li><li>E->G at 724: in dbSNP:rs34099167</li><li>K->N at 745</li><li>Q->E at 883: in dbSNP:rs6828134</li><li>D->N at 1180: in dbSNP rsrs35503975</li>									<li>rs6828134</li><li>rs33933790</li><li>rs34214559</li><li>rs35763578</li><li>rs35093214</li><li>rs34099167</li><li>rs35503975</li><li>rs34540355</li>	2
Q96Q04			<li>L->V at 929: in dbSNP:rs1643478</li>									rs1643478	2
Q96Q06	729359		<li>S->G at 659: in dbSNP:rs7260518</li><li>A->T at 1124: in dbSNP:rs7251858</li><li>R->C at 1134: in dbSNP:rs7250947</li>									<li>rs7260518</li><li>rs7251858</li><li>rs7250947</li>	2
Q96Q11	51095		<li>L->P at 23: in dbSNP:rs334773</li>									rs334773	2
Q96Q35	130540		<li>V->L at 43: in dbSNP:rs13014235</li>									rs13014235	2
Q96Q40	65061		<li>R->G at 13: in dbSNP rsrs34776344</li><li>K->E at 42: in a renal clear cell carcinoma sample; somatic mutation</li><li>Q->R at 76: in dbSNP rsrs56135556</li><li>T->I at 204: in dbSNP rsrs34851370</li><li>E->D at 225: in a breast infiltrating ductal carcinoma sample; somatic mutation</li>									<li>rs34851370</li><li>rs34776344</li><li>rs56135556</li>	2
Q96Q42	57679		<li>I->V at 94: in dbSNP:rs3219154</li><li>H->R at 102</li><li>E->K at 159: in dbSNP:rs3219155</li><li>M->V at 368: in dbSNP:rs3219156</li><li>S->F at 1255: in dbSNP:rs10206276</li><li>R->K at 1406</li>									<li>rs3219154</li><li>rs3219155</li><li>rs3219156</li><li>rs10206276</li>	2
Q96Q80	91319		<li>F->L at 149: in dbSNP:rs3177243</li><li>A->V at 211: in dbSNP:rs1128127</li>									<li>rs3177243</li><li>rs1128127</li>	2
Q96Q89	9585		<li>A->G at 50: in dbSNP:rs1129777</li><li>E->D at 490: in dbSNP:rs17484219</li><li>N->I at 756: in dbSNP:rs12572012</li><li>H->L at 789: in dbSNP:rs3758388</li><li>D->E at 1011: in dbSNP:rs1062465</li><li>E->Q at 1127: in dbSNP:rs11185863</li><li>R->C at 1177: in dbSNP:rs1886996</li><li>N->S at 1219: in dbSNP:rs1886997</li><li>I->V at 1789: in dbSNP:rs3758390</li>									<li>rs1062465</li><li>rs1886997</li><li>rs1886996</li><li>rs3758388</li><li>rs17484219</li><li>rs3758390</li><li>rs12572012</li><li>rs11185863</li><li>rs1129777</li>	2
Q96QA5	284110		<li>R->Q at 18: in dbSNP:rs3894194</li><li>L->V at 128: in dbSNP:rs7212938</li><li>E->K at 130: in dbSNP:rs7212944</li>									<li>rs7212944</li><li>rs3894194</li><li>rs7212938</li>	2
Q96QB1	10395		<li>N->S at 275: in dbSNP:rs1044092</li><li>V->M at 354: in dbSNP:rs532841</li><li>T->A at 522</li><li>H->Q at 561</li><li>V->A at 588</li><li>E->V at 762: in dbSNP:rs1044093</li><li>S->C at 772: in dbSNP:rs1044094</li>									<li>rs532841</li><li>rs1044094</li><li>rs1044093</li><li>rs1044092</li>	2
Q96QC0	5514		<li>R->P at 173: in dbSNP:rs16897725</li>									rs16897725	2
Q96QD5	91614		<li>A->T at 192: in dbSNP:rs34161108</li>									rs34161108	2
Q96QD8	54407		<li>N->K at 48: in dbSNP:rs11183450</li>									rs11183450	2
Q96QE5	79736		<li>I->V at 348: in dbSNP:rs2433</li>									rs2433	2
Q96QF7	93953		<li>R->H at 471: in dbSNP:rs10217999</li><li>T->I at 662: in dbSNP:rs2280962</li>									<li>rs10217999</li><li>rs2280962</li>	2
Q96QH2	84106		<li>Q->K at 57: in dbSNP:rs4804305</li><li>Q->P at 73: in dbSNP:rs4239541</li><li>F->V at 76: in dbSNP:rs4239540</li>									<li>rs4239540</li><li>rs4239541</li><li>rs4804305</li>	2
Q96QK1	55737		<li>V->D at 602: in dbSNP:rs34687100</li>									rs34687100	2
Q96QP1	80216		<li>Q->R at 67: in dbSNP rsrs33943680</li><li>N->D at 175: in dbSNP:rs6533616</li><li>T->M at 292: in dbSNP rsrs34120296</li><li>L->M at 320</li><li>K->E at 339: in an ovarian mucinous carcinoma sample; somatic mutation</li><li>K->E at 383</li><li>D->G at 565: in dbSNP:rs2074388</li><li>H->R at 642: in dbSNP:rs13148353</li><li>P->L at 660: in dbSNP rsrs35389530</li><li>G->D at 681: in dbSNP rsrs35519493</li><li>I->M at 732: in dbSNP:rs2074379</li><li>T->M at 861: in dbSNP:rs11726117</li><li>G->S at 870: in dbSNP:rs2074380</li><li>R->I at 873: in dbSNP rsrs34946272</li><li>E->D at 910: in dbSNP rsrs35308602</li><li>N->D at 916: in dbSNP:rs2074381</li><li>P->L at 935: in dbSNP rsrs34780600</li><li>R->Q at 1084: in dbSNP rsrs34677416</li><li>L->P at 1117: in dbSNP rsrs35756863</li><li>A->G at 1160: in dbSNP rsrs55696324</li>									<li>rs35389530</li><li>rs2074380</li><li>rs33943680</li><li>rs11726117</li><li>rs13148353</li><li>rs55696324</li><li>rs35756863</li><li>rs34780600</li><li>rs34677416</li><li>rs6533616</li><li>rs35519493</li><li>rs2074379</li><li>rs2074388</li><li>rs34946272</li><li>rs34120296</li><li>rs2074381</li><li>rs35308602</li>	2
Q96QS3	170302		<li>L->P at 33: in MRX54: in dbSNP rsrs28936077</li><li>A->AAAAAAAA at 115: in EIEE1</li><li>A->AAAAAAAAA at 155: in EIEE1 and PRTS; also found in non-specific mental retardation families; frequent mutation</li><li>G->S at 286: in MRX54; dbSNP:rs28935479</li><li>R->H at 332: in LISX2: in dbSNP rsrs28936075, MIM: 300215</li><li>R->P at 332: in LISX2, MIM: 300215</li><li>T->N at 333: in ACC with abnormal genitalia: in dbSNP rsrs28936078, MIM: 300004</li><li>L->Q at 343: in LISX2: in dbSNP rsrs28936076, MIM: 300215</li><li>P->L at 353: in EIEE1: in dbSNP rsrs28936074, MIM: 308350</li><li>P->R at 353: in LISX2, MIM: 300215</li><li>A->T at 521: in LISX2; severe phenotype, MIM: 300215</li>							<li>O52058</li><li>Q00955</li><li>P37798</li><li>Q8X9B6</li><li>P78820</li><li>Q9KDS9</li><li>P24182</li><li>P49787</li><li>P32874</li><li>P43873</li><li>P11029</li><li>Q06862</li><li>P84546</li>	<li>Lissencephaly X-linked type 2 (LISX2) [MIM:300215]</li><li>Agenesis of corpus callosum with abnormal genitalia (ACC with abnormal genitalia) [MIM:300004]</li><li>Epileptic encephalopathy early infantile type 1 (EIEE1) [MIM:308350]</li>	<li>rs28935479</li><li>rs28936075</li><li>rs28936074</li><li>rs28936077</li><li>rs28936076</li><li>rs28936078</li>	2
Q96QS6	85481		<li>G->D at 72: in dbSNP rsrs56407605</li><li>R->K at 79: in dbSNP:rs35315725</li><li>R->Q at 114: in dbSNP rsrs35915498</li><li>S->I at 116: in a lung adenocarcinoma sample; somatic mutation</li><li>Q->R at 132: in dbSNP:rs16879427</li><li>R->Q at 148: in dbSNP rsrs56356246</li><li>A->S at 176: in dbSNP:rs6998760</li><li>G->R at 211: in dbSNP rsrs36074412</li><li>K->I at 212: in a lung adenocarcinoma sample; somatic mutation</li><li>T->A at 225: in dbSNP rsrs34457516</li><li>S->R at 266: in dbSNP rsrs34037815</li><li>I->V at 336: in dbSNP:rs16876805</li>									<li>rs35315725</li><li>rs16876805</li><li>rs34457516</li><li>rs36074412</li><li>rs56356246</li><li>rs56407605</li><li>rs16879427</li><li>rs34037815</li><li>rs35915498</li><li>rs6998760</li>	2
Q96QU1	65217		<li>S->A at 19: in dbSNP:rs11004439</li><li>R->G at 134: in DFNB23, MIM: 609533</li><li>G->D at 262: in DFNB23, MIM: 609533</li><li>G->S at 380: in dbSNP:rs10825269, MIM: 609533</li><li>D->A at 435: in dbSNP:rs4935502, MIM: 609533</li><li>R->Q at 929: in dbSNP:rs2135720, MIM: 609533</li><li>Q->K at 1342: in USH1F, MIM: 602083</li><li>Missing  at 1867: in USH1F, MIM: 602083</li>								<li>Non-syndromic sensorineural deafness autosomal recessive type 23 (DFNB23) [MIM:609533]</li><li>Usher syndrome type 1F (USH1F) [MIM:602083]</li>	<li>rs2135720</li><li>rs10825269</li><li>rs11004439</li><li>rs4935502</li>	2
Q96QU6	84680		<li>D->N at 59: in dbSNP:rs33952257</li><li>D->E at 134: in dbSNP:rs2018795</li><li>G->E at 221: in a breast cancer sample; somatic mutation; dbSNP:rs35514614</li><li>S->L at 393: in a breast cancer sample; somatic mutation</li><li>P->L at 421: in dbSNP:rs3107275</li>									<li>rs33952257</li><li>rs2018795</li><li>rs3107275</li><li>rs35514614</li>	2
Q96QU8	23214		<li>V->L at 1029: in dbSNP:rs14672</li>									rs14672	2
Q96QV1	64399		<li>V->I at 341</li>										2
Q96QZ0	116337		<li>G->R at 95: in dbSNP:rs34498516</li><li>T->A at 208: in dbSNP:rs35569094</li>									<li>rs35569094</li><li>rs34498516</li>	2
Q96R08	390191		<li>C->R at 141: in dbSNP:rs4938895</li><li>C->Y at 141: in dbSNP:rs11229457</li>									<li>rs11229457</li><li>rs4938895</li>	2
Q96R09	390190		<li>M->T at 200: in dbSNP:rs4298923</li><li>V->A at 208: in dbSNP:rs10466659</li>									<li>rs10466659</li><li>rs4298923</li>	2
Q96R28	391194		<li>A->T at 237: in dbSNP:rs9435890</li>									rs9435890	2
Q96R30	285659		<li>A->V at 34: in dbSNP:rs17617270</li><li>H->R at 221: in dbSNP:rs2546423</li>									<li>rs2546423</li><li>rs17617270</li>	2
Q96R48	393046		<li>I->V at 126: in dbSNP:rs2961144</li><li>A->S at 202: in dbSNP:rs6464573</li>									<li>rs2961144</li><li>rs6464573</li>	2
Q96R67	283093		<li>V->L at 283: in dbSNP:rs4598671</li>									rs4598671	2
Q96RA2	162998		<li>T->M at 197: in dbSNP:rs13345452</li>									rs13345452	2
Q96RB7	219487		<li>S->N at 171: in dbSNP:rs628524</li><li>V->L at 280: in dbSNP:rs17547207</li>									<li>rs628524</li><li>rs17547207</li>	2
Q96RC9	283162		<li>E->G at 22: in dbSNP:rs10750270</li><li>Y->H at 131: in dbSNP:rs4057750</li><li>C->F at 140: in dbSNP:rs7116575</li><li>C->R at 178: in dbSNP:rs4057749</li>									<li>rs10750270</li><li>rs4057750</li><li>rs7116575</li><li>rs4057749</li>	2
Q96RD1	390321		<li>C->Y at 130: in dbSNP:rs7132431</li><li>H->D at 165: in dbSNP:rs7132347</li><li>T->I at 222: in dbSNP:rs7132600</li><li>V->I at 246: in dbSNP:rs7132916</li>									<li>rs7132916</li><li>rs7132347</li><li>rs7132431</li><li>rs7132600</li>	2
Q96RD2	255725		<li>F->Y at 105: in dbSNP:rs16909422</li>									rs16909422	2
Q96RD3	390078		<li>I->V at 39: in dbSNP:rs4362173</li><li>F->L at 48: in dbSNP:rs10769272</li><li>C->F at 64: in dbSNP:rs4495918</li><li>S->P at 95: in dbSNP:rs4592451</li><li>W->R at 133: in dbSNP:rs10838719</li><li>I->V at 159: in dbSNP:rs4357719</li><li>F->Y at 170: in dbSNP:rs7943698</li><li>M->R at 199: in dbSNP:rs10742809</li>									<li>rs4357719</li><li>rs10838719</li><li>rs4495918</li><li>rs4362173</li><li>rs10742809</li><li>rs7943698</li><li>rs4592451</li><li>rs10769272</li>	2
Q96RD6			<li>S->F at 137: in a breast cancer sample; somatic mutation</li>										2
Q96RD7	24145		<li>H->Q at 5: in dbSNP:rs1138800</li><li>I->V at 272: in dbSNP:rs12793348</li>									<li>rs1138800</li><li>rs12793348</li>	2
Q96RD9	83416		<li>H->Y at 267: in dbSNP:rs6679793</li><li>V->I at 269: in dbSNP:rs12036228</li><li>D->G at 418: in dbSNP:rs2012199</li><li>I->V at 466: in dbSNP:rs6427384</li><li>S->C at 687: in a breast cancer sample; somatic mutation</li>									<li>rs6679793</li><li>rs2012199</li><li>rs6427384</li><li>rs12036228</li>	2
Q96RE9	91975		<li>Q->H at 336: in dbSNP:rs1988688</li>									rs1988688	2
Q96RF0	112574		<li>E->D at 571: in dbSNP:rs2548612</li><li>K->T at 593: in dbSNP:rs13162502</li>									<li>rs13162502</li><li>rs2548612</li>	2
Q96RI8	319100		<li>I->T at 37: in dbSNP:rs17061399</li><li>G->S at 165: in dbSNP:rs17061401</li><li>Y->C at 173: in dbSNP:rs17061404</li><li>A->V at 228: in dbSNP:rs17061409</li><li>V->I at 265: in dbSNP:rs8192624</li><li>C->Y at 291: in dbSNP:rs8192625</li><li>V->I at 326: in dbSNP:rs17061419</li>									<li>rs17061404</li><li>rs17061401</li><li>rs17061399</li><li>rs17061419</li><li>rs8192624</li><li>rs8192625</li><li>rs17061409</li>	2
Q96RI9	134860		<li>A->T at 278: in dbSNP:rs9389004</li>									rs9389004	2
Q96RJ0	134864		<li>R->C at 23: in dbSNP:rs8192618</li><li>T->A at 252: in dbSNP:rs6926857</li>									<li>rs6926857</li><li>rs8192618</li>	2
Q96RJ6	222894		<li>G->R at 36: in a colorectal cancer sample; somatic mutation</li>										2
Q96RK0	23152		<li>E->K at 104: in a breast cancer sample; somatic mutation</li><li>A->T at 652: in a breast cancer sample; somatic mutation</li><li>S->G at 982: in dbSNP:rs17339472</li>									rs17339472	2
Q96RK4	585		<li>K->R at 46</li><li>N->H at 165: in BBS4, MIM: 209900</li><li>E->K at 268: in dbSNP:rs11638283, MIM: 209900</li><li>R->P at 295: in BBS4, MIM: 209900</li><li>L->P at 327: in BBS4, MIM: 209900</li><li>L->R at 351: in BBS4, MIM: 209900</li><li>I->T at 354: in dbSNP:rs2277598, MIM: 209900</li><li>A->E at 364: in BBS4, MIM: 209900</li><li>D->G at 368: in BBS4, MIM: 209900</li><li>A->V at 393: in dbSNP:rs17852452, MIM: 209900</li><li>S->I at 457: in BBS4, MIM: 209900</li><li>M->V at 472: in BBS4; dbSNP:rs2277596, MIM: 209900</li><li>P->L at 503: in BBS4, MIM: 209900</li>							Q96RK4	Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]	<li>rs11638283</li><li>rs2277596</li><li>rs17852452</li><li>rs2277598</li>	2
Q96RL1	51720		<li>R->W at 15: in dbSNP:rs13167812</li><li>P->L at 435: in dbSNP:rs3733876</li><li>C->R at 511: in dbSNP:rs13360277</li><li>G->E at 596: in dbSNP:rs10475633</li>									<li>rs13167812</li><li>rs3733876</li><li>rs10475633</li><li>rs13360277</li>	2
Q96RL7	23230		<li>I->K at 90: in CHAC: in dbSNP rsrs28939379, MIM: 200150</li><li>R->H at 161: in a colorectal cancer sample; somatic mutation, MIM: 200150</li><li>S->P at 1452: in CHAC, MIM: 200150</li><li>Y->C at 2721: in CHAC, MIM: 200150</li>							<li>Q9BGZ0</li><li>Q96RL7</li>	Chorea-acanthocytosis (CHAC) [MIM:200150]	rs28939379	2
Q96RP7	79690		<li>R->Q at 353: in dbSNP:rs3800952</li><li>A->V at 467: in dbSNP:rs3823646</li>									<li>rs3823646</li><li>rs3800952</li>	2
Q96RP8	3743		<li>P->R at 189: in dbSNP:rs1611775</li><li>M->T at 418: in dbSNP:rs1017219</li>									<li>rs1611775</li><li>rs1017219</li>	2
Q96RP9	85476		<li>N->S at 174: in COXPD1: in dbSNP rsrs28939098, MIM: 609060</li><li>V->I at 215: in dbSNP:rs2303909, MIM: 609060</li><li>M->R at 496: in COXPD1, MIM: 609060</li>								Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]	<li>rs2303909</li><li>rs28939098</li>	2
Q96RQ3	56922		<li>A->V at 289: in MCC1 deficiency; mild form, MIM: 210200</li><li>M->R at 325: in MCC1 deficiency, MIM: 210200</li><li>R->S at 385: in MCC1 deficiency; severe form; dbSNP:rs28934881, MIM: 210200</li><li>L->P at 437: in MCC1 deficiency; severe form; dbSNP:rs28934882, MIM: 210200</li><li>H->P at 464: in dbSNP:rs2270968, MIM: 210200</li><li>D->H at 532: in MCC1 deficiency; severe form, MIM: 210200</li><li>S->F at 535: in MCC1 deficiency; asymptomatic form, MIM: 210200</li><li>N->T at 560: in dbSNP:rs35219417, MIM: 210200</li>								Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	<li>rs2270968</li><li>rs35219417</li><li>rs28934881</li><li>rs28934882</li>	2
Q96RQ9	259307		<li>A->S at 501: in dbSNP:rs2290772</li>									rs2290772	2
Q96RR1	56652		<li>R->W at 303: in PEO; sporadic case</li><li>W->L at 315: in PEOA3, MIM: 609286</li><li>K->E at 319: in SANDO; not identified in blood samples of either parents indicating probable germline mosaicism, MIM: 607459</li><li>K->T at 319: in PEOA3, MIM: 609286</li><li>R->Q at 334: in PEO; sporadic case; the patient also carries the S-848 mutation in the POLG gene suggesting digenic inheritance: in dbSNP rsrs28937887, MIM: 609286</li><li>P->L at 335: in PEOA3, MIM: 609286</li><li>R->P at 354: in PEOA3, MIM: 609286</li><li>A->T at 359: in PEOA3, MIM: 609286</li><li>I->T at 367: in PEOA3, MIM: 609286</li><li>V->I at 368: in PEOA3; could be a polymorphism; dbSNP:rs17113613, MIM: 609286</li><li>S->P at 369: in PEOA3, MIM: 609286</li><li>S->Y at 369: in PEOA3, MIM: 609286</li><li>R->Q at 374: in PEOA3, MIM: 609286</li><li>L->P at 381: in PEOA3, MIM: 609286</li><li>E->G at 427: in dbSNP:rs11542126, MIM: 609286</li><li>T->I at 457: in ARHCMDS; affects helicase activity, MIM: 251880</li><li>W->C at 474: in PEOA3, MIM: 609286</li><li>A->P at 475: in PEOA3, MIM: 609286</li><li>Y->C at 508: in IOSCA, MIM: 271245</li>							<li>Q8V736</li><li>O67037</li><li>Q9UZ86</li><li>Q68772</li><li>P54098</li><li>O51934</li><li>P74759</li><li>P37987</li><li>P22657</li><li>Q04575</li><li>Q971T7</li><li>P27328</li><li>P28726</li><li>Q07630</li><li>P27327</li><li>Q9WJB2</li><li>Q3I5J6</li><li>Q66914</li><li>P16342</li><li>Q89273</li><li>P36286</li><li>Q66198</li><li>P22168</li><li>P19751</li><li>Q8V6W7</li><li>P28897</li><li>Q96725</li><li>P19811</li><li>Q91A29</li><li>O29238</li><li>P09395</li><li>P15402</li><li>Q86117</li><li>P09498</li><li>Q86119</li><li>Q58907</li><li>Q83017</li><li>Q97ZF5</li><li>Q8R979</li><li>Q6F598</li><li>Q08582</li><li>Q91AV2</li><li>P17779</li><li>O58530</li><li>Q92076</li><li>O67226</li><li>Q07518</li><li>P95479</li><li>P54634</li><li>Q8ZXT5</li><li>Q9IW06</li><li>Q04544</li><li>Q975P6</li><li>Q8V439</li><li>P17965</li><li>Q91QT2</li><li>Q04561</li><li>Q97ZZ8</li><li>P27411</li><li>P27410</li><li>P27920</li><li>P22591</li><li>Q9PYA3</li><li>P20951</li><li>P15095</li><li>Q9YN02</li><li>P27407</li><li>Q06502</li><li>P18458</li><li>Q05002</li><li>Q9YCB6</li><li>P59641</li><li>Q69014</li><li>Q8B912</li><li>P27409</li><li>Q9YC75</li>	<li>Spinocerebellar ataxia infantile-onset (IOSCA) [MIM:271245]</li><li>Hepatocerebral mitochondrial DNA deletions syndrome autosomal recessive (ARHCMDS) [MIM:251880]</li><li>Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]</li><li>Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]</li>	<li>rs28937887</li><li>rs17113613</li><li>rs11542126</li>	2
Q96RR4	10645		<li>S->N at 10: in dbSNP:rs28360477</li><li>S->T at 85: in dbSNP:rs3817190</li><li>C->Y at 123: in dbSNP rsrs35403710</li><li>P->L at 127: in a lung neuroendocrine carcinoma sample; somatic mutation</li><li>A->T at 182: in a colorectal adenocarcinoma sample; somatic mutation</li><li>R->C at 363: in dbSNP:rs1132780</li><li>R->H at 492: in dbSNP rsrs34129994</li>									<li>rs35403710</li><li>rs1132780</li><li>rs3817190</li><li>rs34129994</li><li>rs28360477</li>	2
Q96RS0	96764		<li>T->I at 16: in dbSNP:rs1818</li><li>I->V at 160: in dbSNP:rs3213971</li><li>I->T at 511: in dbSNP:rs10100659</li><li>V->I at 576: in dbSNP:rs16922259</li><li>F->C at 754: in dbSNP:rs7823773</li>									<li>rs1818</li><li>rs16922259</li><li>rs10100659</li><li>rs3213971</li><li>rs7823773</li>	2
Q96RS6	84955		<li>F->L at 252: in dbSNP:rs2980619</li><li>V->I at 269: in dbSNP:rs2980618</li><li>N->H at 394: in dbSNP:rs34660136</li><li>N->S at 426: in dbSNP:rs11550169</li>									<li>rs34660136</li><li>rs11550169</li><li>rs2980619</li><li>rs2980618</li>	2
Q96RT1	55914		<li>S->L at 274: in dbSNP:rs3213837</li><li>K->E at 746: in dbSNP:rs16894812</li><li>K->R at 914: in dbSNP:rs34521887</li><li>G->V at 1089: in dbSNP:rs35601230</li><li>S->L at 1112: in dbSNP:rs3805466</li><li>K->E at 1207</li>									<li>rs34521887</li><li>rs3213837</li><li>rs16894812</li><li>rs3805466</li><li>rs35601230</li>	2
Q96RT6	64693		<li>I->V at 682: in dbSNP:rs9946136</li>									rs9946136	2
Q96RT7	85378		<li>L->S at 567: in dbSNP:rs4838865</li>									rs4838865	2
Q96RT8	114791		<li>E->D at 662: in dbSNP:rs35612840</li>									rs35612840	2
Q96RU7	57761		<li>T->I at 60: in a glioblastoma multiforme sample; somatic mutation</li><li>Q->R at 84: in dbSNP:rs2295490</li><li>R->H at 153: in dbSNP:rs35051116</li><li>R->H at 274: in dbSNP rsrs56291463</li><li>E->K at 347: in dbSNP rsrs56342286</li>									<li>rs56291463</li><li>rs35051116</li><li>rs56342286</li><li>rs2295490</li>	2
Q96RU8	10221		<li>S->R at 173: in dbSNP rsrs56285697</li><li>T->M at 215: in dbSNP rsrs34349706</li><li>V->I at 267: in dbSNP rsrs56056430</li><li>R->C at 298: in dbSNP rsrs55953723</li><li>E->A at 360: in dbSNP rsrs35454769</li><li>E->D at 360: in dbSNP:rs16900603</li><li>F->L at 371: in a lung large cell carcinoma sample; somatic mutation</li>									<li>rs16900603</li><li>rs56056430</li><li>rs34349706</li><li>rs56285697</li><li>rs55953723</li><li>rs35454769</li>	2
Q96RV3	22990		<li>A->T at 594: in dbSNP:rs34222509</li><li>L->I at 809: in dbSNP:rs11625687</li><li>L->I at 814: in dbSNP:rs11625690</li>									<li>rs34222509</li><li>rs11625690</li><li>rs11625687</li>	2
Q96RW7	83872		<li>T->A at 1056: in dbSNP:rs7539719</li><li>V->F at 1184: in dbSNP:rs12239296</li><li>A->V at 1624</li><li>M->I at 2327: in dbSNP:rs12067376</li><li>I->T at 2418: in dbSNP:rs12129650</li><li>E->G at 2893: in dbSNP:rs10798035</li><li>H->Y at 4084: in dbSNP rsrs41317489</li><li>Q->R at 4437: in dbSNP:rs10911825</li><li>A->T at 4720: in dbSNP:rs6693069</li><li>D->V at 5087: in dbSNP rsrs41317507</li><li>Q->R at 5345: in ARMD1, MIM: 603075</li>								Age-related macular degeneration type 1 (ARMD1) [MIM:603075]	<li>rs12239296</li><li>rs10911825</li><li>rs10798035</li><li>rs41317507</li><li>rs12129650</li><li>rs12067376</li><li>rs6693069</li><li>rs41317489</li><li>rs7539719</li>	2
Q96RY7	9742		<li>D->A at 165: in dbSNP:rs35588860</li><li>R->P at 279: in dbSNP:rs4786350</li><li>R->Q at 280: in dbSNP:rs35404373</li><li>V->I at 398: in dbSNP:rs34762152</li><li>A->V at 451: in dbSNP:rs8060532</li><li>R->Q at 621: in dbSNP:rs11648609</li><li>P->S at 670: in dbSNP:rs34900355</li><li>A->V at 1070: in dbSNP:rs2235638</li>									<li>rs8060532</li><li>rs35404373</li><li>rs34900355</li><li>rs2235638</li><li>rs35588860</li><li>rs11648609</li><li>rs34762152</li><li>rs4786350</li>	2
Q96S06	64788		<li>V->A at 164: in dbSNP:rs35663121</li><li>S->P at 203: in dbSNP:rs11540337</li><li>R->Q at 364: in dbSNP:rs35168378</li><li>P->R at 562: in dbSNP:rs4984948</li>									<li>rs35663121</li><li>rs35168378</li><li>rs4984948</li><li>rs11540337</li>	2
Q96S37	116085		<li>G->W at 65: in dbSNP:rs12800450</li><li>R->H at 90: in RH; strongly reduced urate transport, MIM: 220150</li><li>R->C at 92, MIM: 220150</li><li>V->M at 138: in RH; strongly reduced urate transport, MIM: 220150</li><li>G->S at 164: in RH; reduced urate transport, MIM: 220150</li><li>T->M at 217: in RH; strongly reduced urate transport, MIM: 220150</li><li>A->V at 226, MIM: 220150</li><li>R->G at 284: in some gout patients; uncertain pathological significance, MIM: 220150</li><li>G->C at 290: in some gout patients; uncertain pathological significance, MIM: 220150</li><li>Q->E at 297: in some gout patients; uncertain pathological significance, MIM: 220150</li><li>E->D at 298: in RH; strongly reduced urate transport, MIM: 220150</li><li>I->S at 305: in some gout patients; uncertain pathological significance, MIM: 220150</li><li>Q->L at 312, MIM: 220150</li><li>Missing  at 313-333: affects urate transport, MIM: 220150</li><li>Q->L at 382: in RH; strongly reduced urate transport, MIM: 220150</li><li>L->R at 418: in RH; strongly reduced urate transport, MIM: 220150</li><li>M->T at 430: in RH; reduced urate transport, MIM: 220150</li><li>R->H at 477: in RH, MIM: 220150</li>	urate transport	GO:0015747						Renal hypouricemia (RH) [MIM:220150]	rs12800450	2
Q96S38	26750		<li>P->T at 42: in dbSNP rsrs56087470</li><li>E->K at 96: in dbSNP rsrs56032860</li><li>P->L at 319: in dbSNP rsrs56369827</li><li>P->L at 424: in dbSNP rsrs56183862</li><li>A->P at 546: in dbSNP:rs35281247</li><li>L->I at 554: in a lung neuroendocrine carcinoma sample; somatic mutation</li><li>P->R at 561: in dbSNP:rs17020314</li><li>N->S at 575: in dbSNP rsrs56060894</li><li>G->A at 663: in an ovarian mucinous carcinoma sample; somatic mutation</li><li>L->F at 853: in dbSNP:rs34080597</li><li>C->Y at 1003: in a lung adenocarcinoma sample; somatic mutation</li><li>E->K at 1022: in a breast infiltrating ductal carcinoma sample; somatic mutation</li>									<li>rs56183862</li><li>rs34080597</li><li>rs35281247</li><li>rs17020314</li><li>rs56369827</li><li>rs56060894</li><li>rs56032860</li><li>rs56087470</li>	2
Q96S42	4838		<li>H->R at 165: in dbSNP:rs1904589</li><li>R->Q at 183: in situs ambiguus, MIM: 601265</li><li>E->K at 203: in dbSNP:rs10999334, MIM: 601265</li><li>E->K at 279: in a colorectal cancer sample; somatic mutation, MIM: 601265</li>								Situs ambiguus [MIM:601265]	<li>rs1904589</li><li>rs10999334</li>	2
Q96S44	112858		<li>A->T at 25</li><li>R->Q at 123: in dbSNP:rs34983477</li><li>T->A at 129: in dbSNP:rs11550540</li><li>T->A at 145: in dbSNP rsrs56008408</li>									<li>rs11550540</li><li>rs34983477</li><li>rs56008408</li>	2
Q96S52	94005		<li>M->I at 159: in a breast cancer sample; somatic mutation</li><li>R->H at 253: in dbSNP:rs34669811</li>									rs34669811	2
Q96S53	10420		<li>G->A at 11: in a breast infiltrating ductal carcinoma sample; somatic mutation</li>										2
Q96S66	23155		<li>S->R at 368: in dbSNP:rs168107</li>									rs168107	2
Q96S79	91608		<li>V->M at 52: in a breast cancer sample; somatic mutation</li>										2
Q96S96	157310		<li>K->E at 125: in dbSNP:rs1129474</li><li>E->G at 211: in dbSNP:rs1047406</li>									<li>rs1047406</li><li>rs1129474</li>	2
Q96SB8	79677		<li>A->V at 292: in a breast cancer sample; somatic mutation</li><li>R->G at 464: in dbSNP:rs35195207</li><li>A->T at 691: in dbSNP:rs1065381</li><li>K->Q at 928: in dbSNP:rs35257753</li><li>I->M at 1046: in dbSNP:rs10221907</li>									<li>rs10221907</li><li>rs35257753</li><li>rs35195207</li><li>rs1065381</li>	2
Q96SE0	84696		<li>P->Q at 54: in dbSNP:rs34127901</li><li>E->D at 137: in dbSNP:rs6715286</li><li>W->C at 371: in dbSNP:rs2304678</li>									<li>rs6715286</li><li>rs34127901</li><li>rs2304678</li>	2
Q96SE7	84671		<li>M->V at 117: in dbSNP:rs34656962</li>									rs34656962	2
Q96SF2	150160		<li>R->W at 320: in dbSNP:rs2236639</li>									rs2236639	2
Q96SI1	79047		<li>G->S at 64: in dbSNP:rs17849437</li>									rs17849437	2
Q96SI9	55342		<li>G->R at 280: in a breast cancer sample; somatic mutation</li>										2
Q96SK2	84928		<li>P->R at 469: in dbSNP:rs17857472</li><li>H->R at 505: in dbSNP:rs17854938</li>									<li>rs17857472</li><li>rs17854938</li>	2
Q96SN7	80228		<li>A->P at 15: in dbSNP:rs34947403</li>									rs34947403	2
Q96SN8			<li>E->Q at 289: in dbSNP:rs4836822</li><li>R->T at 1045: in dbSNP:rs3780679</li><li>V->L at 1540: in dbSNP:rs4837768</li>									<li>rs4836822</li><li>rs4837768</li><li>rs3780679</li>	2
Q96SQ7	84913		<li>L->P at 150: in dbSNP:rs17851881</li>									rs17851881	2
Q96SQ9	29785		<li>P->L at 466: in dbSNP:rs34971233</li>									rs34971233	2
Q96SR6	84911		<li>G->E at 168: in dbSNP:rs3108171</li>									rs3108171	2
Q96ST8	84902		<li>R->W at 194: in dbSNP:rs3764633</li><li>V->A at 398: in dbSNP:rs4805825</li>									<li>rs4805825</li><li>rs3764633</li>	2
Q96SZ5	84890		<li>G->W at 25: in dbSNP rsrs2236295</li><li>P->A at 39: in dbSNP:rs10995311</li><li>P->S at 266: in dbSNP:rs569705</li>									<li>rs10995311</li><li>rs569705</li><li>rs2236295</li>	2
Q96T17	256714		<li>A->P at 32: in a breast cancer sample; somatic mutation</li><li>N->S at 182: in dbSNP:rs34519770</li>									rs34519770	2
Q96T21	79048		<li>R->Q at 540: in ATHYHM, MIM: 609698</li>								Abnormal thyroid hormone metabolism [MIM:609698]		2
Q96T23			<li>S->P at 465: in dbSNP:rs7950873</li>									rs7950873	2
Q96T54	89822		<li>S->G at 21: in dbSNP:rs10947804</li><li>M->L at 253: in dbSNP:rs35677794</li><li>R->Q at 296: in dbSNP:rs2758910</li>									<li>rs2758910</li><li>rs35677794</li><li>rs10947804</li>	2
Q96T55	83795		<li>P->H at 301: in dbSNP:rs11756091</li>									rs11756091	2
Q96T58	23013		<li>A->V at 970: in dbSNP:rs848208</li><li>D->H at 990: in a breast cancer sample; somatic mutation</li><li>L->P at 1091: in dbSNP:rs848209</li><li>D->E at 1363: in dbSNP:rs12095818</li><li>R->I at 1488: in a breast cancer sample; somatic mutation</li><li>N->D at 2360: in dbSNP:rs848210</li>									<li>rs12095818</li><li>rs848210</li><li>rs848209</li><li>rs848208</li>	2
Q96T59	146822		<li>R->Q at 24: in dbSNP:rs17679866</li>									rs17679866	2
Q96T60	11284		<li>P->S at 20: in dbSNP:rs3739168</li><li>A->V at 63: in dbSNP:rs3739173</li><li>R->S at 180: in dbSNP:rs3739185</li><li>Y->N at 196: in dbSNP:rs3739186</li><li>V->G at 478: in dbSNP:rs3739206</li>									<li>rs3739185</li><li>rs3739168</li><li>rs3739186</li><li>rs3739206</li><li>rs3739173</li>	2
Q96T68	83852		<li>E->G at 117: in dbSNP:rs7998427</li><li>V->M at 473: in dbSNP:rs2057413</li>									<li>rs7998427</li><li>rs2057413</li>	2
Q96T76	64210		<li>A->G at 68: in dbSNP:rs2275586</li><li>R->W at 98: in dbSNP:rs29001280</li><li>V->I at 197: in dbSNP:rs29001285</li><li>R->H at 306: in dbSNP:rs29001306</li><li>M->V at 365: in dbSNP:rs29001309</li><li>Q->P at 409: in dbSNP:rs29001311</li><li>Q->E at 434: in dbSNP:rs29001314</li><li>V->I at 526: in dbSNP:rs17112809</li><li>A->V at 558: in dbSNP:rs12360068</li><li>G->D at 790: in dbSNP:rs3740526</li><li>R->H at 983: in dbSNP:rs29001332</li>									<li>rs17112809</li><li>rs2275586</li><li>rs29001309</li><li>rs29001306</li><li>rs12360068</li><li>rs29001285</li><li>rs29001332</li><li>rs29001314</li><li>rs3740526</li><li>rs29001311</li><li>rs29001280</li>	2
Q96TC7	55177		<li>Q->H at 33: in dbSNP:rs11558807</li>									rs11558807	2
Q99062	1441		<li>M->T at 231: in dbSNP:rs3917973</li><li>D->N at 320: in dbSNP:rs3918018</li><li>Q->R at 346: in dbSNP:rs3917974</li><li>E->K at 405: in dbSNP:rs3918019</li><li>R->Q at 440: in dbSNP:rs3918020</li><li>D->H at 510: in dbSNP:rs3917991</li><li>Y->H at 562: in dbSNP:rs3917996</li><li>R->C at 583: in dbSNP:rs3917997</li>									<li>rs3917996</li><li>rs3918019</li><li>rs3917997</li><li>rs3918018</li><li>rs3917991</li><li>rs3917973</li><li>rs3917974</li><li>rs3918020</li>	2
Q99081	6938		<li>G->S at 300: in dbSNP:rs12442879</li>									rs12442879	2
Q99102	4585		<li>G->D at 37: in dbSNP:rs2259292</li><li>T->A at 161: in dbSNP:rs2293232</li><li>S->A at 585: in dbSNP:rs2246901</li>									<li>rs2293232</li><li>rs2259292</li><li>rs2246901</li>	2
Q99217	265		<li>W->S at 4: in AIH1, MIM: 301200</li><li>ILFA->T at 5-8: in AIH1, MIM: 301200</li><li>T->I at 37: in AIH1, MIM: 301200</li><li>P->T at 56: in AIH1, MIM: 301200</li>								Amelogenesis imperfecta hypoplastic type 1 (AIH1) [MIM:301200]		2
Q99250	6326		<li>R->K at 19: in dbSNP:rs17183814</li><li>R->W at 188: in GEFS+; mutant channel inactivates more slowly than wild-type whereas the Na, MIM: 604233</li><li>R->Q at 223: in BFNIS, MIM: 607745</li><li>F->Y at 385: in dbSNP:rs2228988, MIM: 607745</li><li>R->Q at 524, MIM: 607745</li><li>V->I at 892: in BFNIS, MIM: 607745</li><li>L->I at 1003: in BFNIS, MIM: 607745</li><li>R->Q at 1319: in BFNIS, MIM: 607745</li><li>L->F at 1330: in BFNIS, MIM: 607745</li><li>L->V at 1563: in BFNIS, MIM: 607745</li><li>R->T at 1902: associated with autism, MIM: 607745</li>								<li>Generalized epilepsy with febrile seizures plus (GEFS+) [MIM:604233]</li><li>Benign familial neonatal-infantile seizures (BFNIS) [MIM:607745]</li>	<li>rs2228988</li><li>rs17183814</li>	2
Q99259	2571		<li>S->C at 12: in SCP, MIM: 603513</li><li>I->L at 228: in dbSNP:rs45566933, MIM: 603513</li><li>V->G at 474: in dbSNP:rs769403, MIM: 603513</li><li>R->Q at 532: in dbSNP:rs769402, MIM: 603513</li><li>F->L at 565: in dbSNP:rs1049736, MIM: 603513</li>							<li>O97374</li><li>P58099</li><li>P12020</li><li>P03599</li><li>Q8NZ80</li><li>P04572</li><li>P15926</li><li>P36341</li><li>P04571</li><li>P31630</li><li>P02637</li><li>P13561</li><li>P38485</li><li>Q8K5Q0</li><li>Q5X9R0</li><li>P23009</li><li>P02692</li>	Autosomal recessive symmetric spastic cerebral palsy (SCP) [MIM:603513]	<li>rs769402</li><li>rs769403</li><li>rs1049736</li><li>rs45566933</li>	2
Q99435	4753		<li>V->I at 5: in dbSNP:rs2658973</li><li>N->D at 347: in dbSNP:rs17574839</li><li>P->L at 631: in dbSNP:rs1050710</li>									<li>rs17574839</li><li>rs2658973</li><li>rs1050710</li>	2
Q99436	5695		<li>V->A at 39: in dbSNP:rs4574</li>									rs4574	2
Q99437	533		<li>V->M at 155: in a breast cancer sample; somatic mutation</li>										2
Q99440	10141		<li>N->K at 15: in dbSNP:rs886532</li>									rs886532	2
Q99445	2765		<li>R->C at 54: in dbSNP:rs3764795</li>									rs3764795	2
Q99453	8929		<li>R->L at 100: germline mutation which predisposes to NB; familial case of NB</li><li>R->G at 141: germline mutation which predisposes to NB; isolated case of NB associated with HSCR: in dbSNP rsrs28939716</li><li>R->Q at 141: in CCHS, MIM: 209880</li><li>Q->R at 143: in CCHS, MIM: 209880</li><li>G->D at 197: mutation which predisposes to NB, MIM: 209880</li><li>A->AAAAAAAAAAA at 241: in CCHS, MIM: 209880</li><li>Missing at 254-258, MIM: 209880</li><li>Missing at 255-259, MIM: 209880</li>								Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	rs28939716	2
Q99456	3859		<li>P->S at 15: in dbSNP:rs11650915</li><li>R->W at 20: in dbSNP:rs17566772</li><li>M->T at 129: in MCD: in dbSNP rsrs28936695, MIM: 122100</li><li>Q->P at 130: in MCD: in dbSNP rsrs58864803, MIM: 122100</li><li>R->G at 135: in MCD: in dbSNP rsrs58410481, MIM: 122100</li><li>R->I at 135: in MCD, MIM: 122100</li><li>R->S at 135: in MCD: in dbSNP rsrs61282718, MIM: 122100</li><li>R->T at 135: in MCD: in dbSNP rsrs57218384, MIM: 122100</li><li>A->P at 137: in MCD: in dbSNP rsrs58038639, MIM: 122100</li><li>L->R at 140: in MCD: in dbSNP rsrs58918655, MIM: 122100</li><li>V->L at 143: in MCD: in dbSNP rsrs58343600, MIM: 122100</li><li>L->LISNLEAQLL at 399: in MCD, MIM: 122100</li><li>I->S at 426: in MCD: in dbSNP rsrs59350319, MIM: 122100</li><li>Y->C at 429: in MCD: in dbSNP rsrs59202432, MIM: 122100</li><li>Y->D at 429: in MCD: in dbSNP rsrs58162394, MIM: 122100</li>							<li>Q99J39</li><li>O95822</li><li>Q920F5</li><li>P12617</li>	Juvenile epithelial corneal dystrophy of Meesmann (MCD) [MIM:122100]	<li>rs58343600</li><li>rs61282718</li><li>rs58918655</li><li>rs28936695</li><li>rs58162394</li><li>rs57218384</li><li>rs58864803</li><li>rs59350319</li><li>rs58038639</li><li>rs58410481</li><li>rs17566772</li><li>rs59202432</li><li>rs11650915</li>	2
Q99457	4675		<li>P->A at 224: in dbSNP:rs1045686</li>									rs1045686	2
Q99466	4855		<li>K->Q at 117: in dbSNP:rs915894</li><li>P->L at 204: in dbSNP:rs2071282</li><li>P->L at 206: in dbSNP:rs2071282</li><li>S->L at 244: in dbSNP:rs8192585</li><li>D->G at 272: in dbSNP:rs520692</li><li>E->Q at 317</li><li>T->A at 320: in dbSNP:rs422951</li><li>G->S at 534: in dbSNP:rs8192591</li><li>S->I at 809: in dbSNP:rs3132961</li><li>K->R at 851: in dbSNP:rs2022060</li><li>G->R at 942: in dbSNP:rs17604492</li><li>R->P at 1346: in dbSNP:rs8192573</li>									<li>rs8192573</li><li>rs17604492</li><li>rs8192585</li><li>rs915894</li><li>rs8192591</li><li>rs2071282</li><li>rs2022060</li><li>rs520692</li><li>rs3132961</li><li>rs422951</li>	2
Q99467	4064		<li>N->K at 53: in dbSNP:rs16875312</li><li>S->R at 99: in dbSNP:rs2230520</li>									<li>rs2230520</li><li>rs16875312</li>	2
Q99469	6769		<li>N->S at 262: in dbSNP:rs7634545</li>									rs7634545	2
Q99470	6388		<li>A->T at 15: in dbSNP:rs35404078</li>									rs35404078	2
Q99489	8528		<li>F->L at 136: in a breast cancer sample; somatic mutation</li><li>Q->E at 189: in dbSNP:rs17622</li><li>H->Y at 230: in dbSNP:rs17621</li><li>L->R at 255: in dbSNP:rs17623</li>									<li>rs17623</li><li>rs17621</li><li>rs17622</li>	2
Q99490	116986		<li>T->A at 339: in a breast cancer sample; somatic mutation</li><li>V->A at 455: in a glioblastoma cell line</li><li>G->S at 507: in dbSNP:rs2301553</li><li>R->G at 518: in a sarcoma cell line</li><li>T->I at 568: in a neuroblastoma cell line</li><li>A->V at 651: in a glioblastoma cell line</li><li>E->V at 767: in a glioblastoma cell line</li><li>D->Y at 816: in a breast cancer sample; somatic mutation</li><li>N->D at 939: in a glioblastoma cell line</li><li>V->M at 947: in a sarcoma cell line</li><li>S->P at 1022: in a glioblastoma cell line</li>									rs2301553	2
Q99500	1903		<li>R->Q at 243: in dbSNP:rs34075341</li>									rs34075341	2
Q99502	2138		<li>P->A at 20: in dbSNP:rs1445404</li><li>S->G at 242: in BOS1, MIM: 602588</li><li>E->K at 363: in anterior segment anomalies, MIM: 602588</li><li>G->S at 426: in BOR1; with cataract, MIM: 113650</li><li>D->G at 429: in BOR1, MIM: 113650</li><li>R->Q at 440: in BOR1, MIM: 113650</li><li>S->P at 487: in BOR1, MIM: 113650</li><li>L->R at 505: in BOR1, MIM: 113650</li><li>R->G at 547: in anterior segment anomalies; with cataract, MIM: 113650</li><li>L->P at 583: in BOR1, MIM: 113650</li>							<li>Q6BVM4</li><li>P25385</li><li>Q6BZQ6</li><li>Q75CY3</li><li>Q8VYR7</li><li>Q6FKA1</li><li>Q6CRX0</li>	<li>Branchiootic syndrome type 1 (BOS1) [MIM:602588]</li><li>Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]</li>	rs1445404	2
Q99518	2327		<li>D->G at 36: in dbSNP:rs2020870</li><li>V->I at 59: in dbSNP rsrs55708639</li><li>F->Y at 69: in dbSNP rsrs28745274</li><li>F->S at 81: in dbSNP:rs2020860</li><li>F->S at 182: in dbSNP:rs2307492</li><li>S->L at 195: in dbSNP:rs2020862</li><li>R->Q at 238: in dbSNP rsrs28369895</li><li>E->G at 314: in dbSNP rsrs2020863</li><li>R->T at 391: in dbSNP rsrs28369899</li><li>N->K at 413: in dbSNP:rs2020865</li>									<li>rs2020860</li><li>rs28369899</li><li>rs2307492</li><li>rs28745274</li><li>rs55708639</li><li>rs2020870</li><li>rs2020862</li><li>rs2020863</li><li>rs2020865</li><li>rs28369895</li>	2
Q99527	2852		<li>P->L at 16: in dbSNP:rs11544331</li>									rs11544331	2
Q99550	10198		<li>G->S at 125: in dbSNP:rs36121382</li><li>A->D at 926: in dbSNP:rs1260318</li>									<li>rs36121382</li><li>rs1260318</li>	2
Q99551	7978		<li>A->T at 231: in dbSNP:rs17856025</li><li>A->T at 294: in dbSNP:rs10266424</li>									<li>rs10266424</li><li>rs17856025</li>	2
Q99567	4927		<li>N->S at 289: in dbSNP:rs1806245</li>									rs1806245	2
Q99569			<li>Missing at 448</li>										2
Q99570	30849		<li>F->L at 273: in dbSNP rsrs55951445</li><li>R->H at 342: in dbSNP rsrs56295394</li><li>R->W at 347: in dbSNP rsrs34797184</li><li>T->I at 388: in dbSNP rsrs34663155</li><li>D->N at 393: in dbSNP rsrs34633532</li><li>L->V at 699: in dbSNP rsrs56369596</li><li>R->Q at 936: in a breast cancer sample; somatic mutation</li><li>G->V at 1043: in dbSNP rsrs56160735</li>									<li>rs34633532</li><li>rs55951445</li><li>rs34797184</li><li>rs56295394</li><li>rs34663155</li><li>rs56369596</li><li>rs56160735</li>	2
Q99571	5025		<li>A->S at 6: in dbSNP:rs1044249</li><li>S->G at 242: in dbSNP:rs25644</li>									<li>rs25644</li><li>rs1044249</li>	2
Q99572	5027		<li>N->S at 25: in a colorectal cancer sample; somatic mutation</li><li>H->Y at 155: in dbSNP:rs208294</li><li>R->H at 270: in dbSNP:rs7958311</li><li>T->S at 357: in dbSNP:rs2230911</li><li>Q->R at 460: in dbSNP:rs2230912</li><li>E->A at 496: in a polymorphism that results in a loss of function; dbSNP:rs3751143</li><li>R->L at 574: in a colorectal cancer sample; somatic mutation</li>									<li>rs208294</li><li>rs2230912</li><li>rs7958311</li><li>rs3751143</li><li>rs2230911</li>	2
Q99574	5274		<li>S->P at 49: in FEN1B; Syracuse, MIM: 604218</li><li>S->R at 52: in FEN1B; Portland, MIM: 604218</li>							P70054	Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]		2
Q99575			<li>E->Q at 675: in a breast cancer sample; somatic mutation</li>										2
Q99592	10472		<li>E->G at 132: in dbSNP:rs1048824</li>									rs1048824	2
Q99593	6910		<li>Q->K at 49: in HOS, MIM: 142900</li><li>I->T at 54: in HOS, MIM: 142900</li><li>G->R at 80: in HOS; significant cardiac malformations but only minor skeletal abnormalities, MIM: 142900</li><li>R->Q at 237: in HOS; extensive upper limb malformations; affects transcriptional regulation of MYH6, MIM: 142900</li><li>R->W at 237: in HOS; extensive upper limb malformations, MIM: 142900</li>							<li>P13539</li><li>P13533</li><li>P04460</li>	Holt-Oram syndrome (HOS) [MIM:142900]		2
Q99594	7005		<li>T->M at 254: in dbSNP:rs35080860</li>									rs35080860	2
Q99595	10440		<li>V->I at 113: in dbSNP:rs4648</li>									rs4648	2
Q99611	22928		<li>P->A at 269: in dbSNP:rs1804600</li>									rs1804600	2
Q99616	6357		<li>A->S at 5: in dbSNP:rs3136677</li><li>N->S at 29: in dbSNP:rs34566308</li>									<li>rs34566308</li><li>rs3136677</li>	2
Q99626	1045		<li>S->P at 293: in dbSNP:rs1805107</li>									rs1805107	2
Q99645	1833		<li>S->C at 150: in dbSNP:rs17784152</li>									rs17784152	2
Q99650	9180		<li>H->Q at 187: in dbSNP:rs34675408</li><li>G->W at 210: in dbSNP:rs17855841</li><li>E->K at 527: in dbSNP:rs10941412</li><li>D->N at 553: in dbSNP:rs2278329</li><li>G->A at 618: in AMYL9, MIM: 105250</li><li>I->T at 691: in AMYL9, MIM: 105250</li><li>P->S at 936: in dbSNP:rs3749737, MIM: 105250</li><li>P->R at 959: in dbSNP:rs34080825, MIM: 105250</li>								Amyloidosis type 9 (AMYL9) [MIM:105250]	<li>rs10941412</li><li>rs34080825</li><li>rs34675408</li><li>rs17855841</li><li>rs2278329</li><li>rs3749737</li>	2
Q99661	11004		<li>I->L at 449: in dbSNP:rs4342887</li>									rs4342887	2
Q99674	10669		<li>A->V at 212: in dbSNP:rs11893478</li><li>K->N at 232: in dbSNP:rs11889831</li><li>G->E at 243: in dbSNP:rs1057389</li>									<li>rs1057389</li><li>rs11889831</li><li>rs11893478</li>	2
Q99675	10668		<li>C->Y at 117: in dbSNP:rs11555279</li>									rs11555279	2
Q99676	7738		<li>S->A at 27: in dbSNP:rs1883216</li>									rs1883216	2
Q99684	2672		<li>S->N at 36: in dbSNP:rs34631763</li><li>N->S at 382: in SCN: in dbSNP rsrs28936381, MIM: 202700</li><li>K->R at 403: in NI-CINA: in dbSNP rsrs28936382, MIM: 607847</li>								<li>Autosomal dominant severe congenital neutropenia (SCN) [MIM:202700]</li><li>Dominant nonimmune chronic idiopathic neutropenia of adults (NI-CINA) [MIM:607847]</li>	<li>rs28936382</li><li>rs28936381</li><li>rs34631763</li>	2
Q99689	9638		<li>D->E at 123: in dbSNP:rs597570</li>									rs597570	2
Q99697	5308		<li>R->W at 89: in IRID2, MIM: 137600</li><li>L->Q at 100: in RIEG1, MIM: 180500</li><li>R->H at 108: in RDC, MIM: 180550</li><li>T->P at 114: in RIEG1, MIM: 180500</li><li>R->H at 115: in IRID2, MIM: 137600</li><li>Missing  at 128-134: in RIEG1; more than 100-fold reduction in DNA binding activity as well as no detectable transactivation activity, MIM: 137600</li><li>V->L at 129: in RIEG1; more than 200% increase in transactivation activity, MIM: 180500</li><li>R->P at 137: in RIEG1, MIM: 180500</li>			DNA binding	GO:0003677			Q99697	<li>Ring dermoid of cornea (RDC) [MIM:180550]</li><li>Iridogoniodysgenesis type 2 (IRID2) [MIM:137600]</li><li>Rieger syndrome type 1 (RIEG1) [MIM:180500]</li>		2
Q99698	1130		<li>H->R at 123: in dbSNP:rs3768067</li><li>L->V at 192: in dbSNP:rs7524261</li><li>E->G at 702: in dbSNP:rs1063129</li><li>S->N at 1017: in dbSNP:rs10465613</li><li>R->H at 1563: in CHS, MIM: 214500</li><li>Q->H at 1949: in dbSNP:rs6665568, MIM: 214500</li><li>V->D at 1999: in CHS: in dbSNP rsrs28942077, MIM: 214500</li><li>F->Y at 2598: in dbSNP:rs34642241, MIM: 214500</li><li>G->D at 2804: in dbSNP:rs35333195, MIM: 214500</li><li>V->I at 2936: in dbSNP:rs2753327, MIM: 214500</li>							<li>P48405</li><li>P06515</li><li>Q9ZU06</li><li>O22586</li><li>P51075</li><li>P23569</li><li>P17818</li><li>Q9MBB1</li><li>P13114</li><li>O04220</li><li>P48385</li><li>O65872</li><li>P16107</li><li>Q9SEP4</li><li>O22652</li><li>Q9SEP2</li><li>P51089</li><li>P48389</li><li>P26018</li><li>P30079</li><li>Q9ZRS4</li><li>P30078</li><li>Q99698</li><li>P48017</li><li>O04111</li><li>Q9LKP7</li><li>O82144</li><li>P51090</li>	Chediak-Higashi syndrome (CHS) [MIM:214500]	<li>rs34642241</li><li>rs6665568</li><li>rs10465613</li><li>rs1063129</li><li>rs3768067</li><li>rs7524261</li><li>rs2753327</li><li>rs28942077</li><li>rs35333195</li>	2
Q99700	6311		<li>L->V at 107: in dbSNP:rs695871</li><li>S->N at 248: in dbSNP:rs7969300</li>									<li>rs7969300</li><li>rs695871</li>	2
Q99705	2847		<li>T->M at 25</li><li>D->V at 28</li><li>N->D at 32: no significant functional differences; dbSNP:rs133072</li><li>G->R at 34: no changes in receptor binding or functional signaling</li><li>G->R at 103: in dbSNP:rs11914085</li><li>R->H at 210</li><li>Y->H at 250</li><li>T->M at 305</li><li>R->Q at 317: no evidence of constitutive activation or ligand hypersensitivity: in dbSNP rsrs45439291</li><li>P->S at 377</li><li>T->M at 411</li>			receptor binding	GO:0005102					<li>rs45439291</li><li>rs11914085</li><li>rs133072</li>	2
Q99706			<li>Y->C at 53: in dbSNP:rs618835</li><li>L->V at 87</li><li>T->A at 138</li><li>A->P at 209: in dbSNP:rs1051456</li><li>D->N at 271</li><li>H->N at 371</li>									<li>rs1051456</li><li>rs618835</li>	2
Q99707	4548		<li>R->Q at 52: in dbSNP:rs12749581</li><li>R->K at 61</li><li>C->Y at 255</li><li>Missing  at 881: in cblG</li><li>D->G at 919: may be associated with susceptibility to folate-sensitive NTD; dbSNP:rs1805087</li><li>H->D at 920: in cblG: in dbSNP rsrs28933097, MIM: 250940</li><li>P->L at 1173: in cblG, MIM: 250940</li>								Methylcobalamin deficiency type G (cblG) [MIM:250940]	<li>rs28933097</li><li>rs12749581</li><li>rs1805087</li>	2
Q99712	3772		<li>M->L at 30: in dbSNP:rs3746875</li><li>A->T at 71: in a breast cancer sample; somatic mutation</li><li>G->D at 98: in dbSNP:rs2230033</li>									<li>rs3746875</li><li>rs2230033</li>	2
Q99714	3028		<li>L->V at 122: in MHBD deficiency; dbSNP:rs28935476, MIM: 300438</li><li>R->C at 130: in MHBD deficiency; dbSNP:rs28935475, MIM: 300438</li><li>N->S at 247: in MHBD deficiency; intermediate enzyme activity, MIM: 300438</li>								2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]	<li>rs28935476</li><li>rs28935475</li>	2
Q99715	1303		<li>A->P at 461: in dbSNP:rs34730529</li><li>I->T at 1738: in dbSNP:rs240736</li><li>E->V at 2160: in dbSNP:rs35523808</li><li>I->V at 2596: in dbSNP:rs35710072</li><li>G->S at 3058: in dbSNP:rs970547</li>									<li>rs970547</li><li>rs35523808</li><li>rs35710072</li><li>rs240736</li><li>rs34730529</li>	2
Q99728	580		<li>P->S at 24: common polymorphism in Caucasians; less frequent in Africans; dbSNP:rs1048108</li><li>K->E at 153: unclassified</li><li>S->G at 186: in dbSNP:rs16852741</li><li>S->C at 241: in dbSNP:rs3738885</li><li>R->S at 378: in dbSNP:rs2229571</li><li>V->M at 507: unclassified; dbSNP:rs2070094</li><li>C->S at 557: rare polymorphism in Caucasians; dbSNP:rs28997576</li><li>Q->H at 564: in ovarian cancer</li><li>C->R at 645: in dbSNP:rs34744268</li><li>R->C at 658: rare polymorphism in Caucasians; absent in Africans; dbSNP:rs3738888</li><li>V->L at 695: in breast and ovarian cancer</li><li>S->F at 728: in dbSNP:rs13389423</li><li>S->N at 761: in uterine cancer</li>									<li>rs3738885</li><li>rs16852741</li><li>rs1048108</li><li>rs3738888</li><li>rs34744268</li><li>rs2229571</li><li>rs13389423</li><li>rs2070094</li><li>rs28997576</li>	2
Q99735	4258		<li>A->V at 101: in dbSNP:rs8192111</li>									rs8192111	2
Q99741	990		<li>T->A at 238: in dbSNP:rs4135010</li><li>D->N at 295: in dbSNP:rs4135012</li><li>T->M at 299: in dbSNP:rs4135013</li><li>R->H at 378: in dbSNP:rs4135016</li><li>V->I at 441: in dbSNP:rs13706</li>									<li>rs4135010</li><li>rs4135016</li><li>rs13706</li><li>rs4135012</li><li>rs4135013</li>	2
Q99743	4862		<li>A->T at 394: in dbSNP:rs2305160</li><li>S->L at 471: susceptibility to seasonal affective disorder : in dbSNP rsrs11541353</li>									<li>rs11541353</li><li>rs2305160</li>	2
Q99747	8774		<li>P->S at 92: in dbSNP:rs16974765</li><li>K->N at 281: in dbSNP:rs2305370</li>									<li>rs2305370</li><li>rs16974765</li>	2
Q99748	4902		<li>A->S at 96: in HSCR; associated to a RET mutation; incomplete penetrance; dbSNP:rs1801281, MIM: 142623</li>							P07949	Hirschsprung disease (HSCR) [MIM:142623]	rs1801281	2
Q99758	21		<li>L->P at 101: in SMDP3: in dbSNP rsrs28936412, MIM: 610921</li><li>N->H at 140: in dbSNP:rs45447801, MIM: 610921</li><li>L->M at 290: in a breast cancer sample; somatic mutation, MIM: 610921</li><li>N->D at 568: in SMDP3, MIM: 610921</li><li>P->S at 766: in dbSNP:rs45592239, MIM: 610921</li><li>E->D at 801: in a breast cancer sample; somatic mutation, MIM: 610921</li><li>H->Q at 1069: in a breast cancer sample; somatic mutation, MIM: 610921</li><li>L->P at 1553: in SMDP3, MIM: 610921</li><li>Q->P at 1591: in SMDP3; dbSNP:rs28936691, MIM: 610921</li>								Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	<li>rs45592239</li><li>rs28936412</li><li>rs28936691</li><li>rs45447801</li>	2
Q99759	4215		<li>V->M at 281: in dbSNP rsrs36109904</li><li>A->G at 325: in dbSNP:rs34042309</li><li>A->G at 435: in dbSNP:rs9910858</li>									<li>rs34042309</li><li>rs36109904</li><li>rs9910858</li>	2
Q99767	321		<li>L->P at 311: in dbSNP:rs8040932</li>									rs8040932	2
Q99795	10223		<li>D->N at 20: in dbSNP:rs2274531</li><li>K->N at 165: in dbSNP:rs16858376</li>									<li>rs2274531</li><li>rs16858376</li>	2
Q99797	4285		<li>A->V at 137: in dbSNP:rs2312296</li><li>R->Q at 340: in dbSNP:rs11551114</li><li>R->H at 453: in dbSNP:rs12858248</li><li>S->G at 488: in dbSNP:rs7333040</li>									<li>rs2312296</li><li>rs7333040</li><li>rs11551114</li><li>rs12858248</li>	2
Q99798	50		<li>T->N at 697: in a breast cancer sample; somatic mutation</li><li>A->S at 768: in dbSNP:rs1804785</li>									rs1804785	2
Q99801	4824		<li>R->C at 52: in dbSNP rsrs2228013</li>									rs2228013	2
Q99808	2030		<li>I->T at 216: in dbSNP:rs45573936</li><li>A->T at 293: in a colorectal cancer sample; somatic mutation</li><li>E->K at 391: in dbSNP:rs45458701</li><li>I->V at 455: in a colorectal cancer sample; somatic mutation</li>									<li>rs45573936</li><li>rs45458701</li>	2
Q99828	10519		<li>S->T at 44: in dbSNP:rs3210935</li><li>I->T at 106: in dbSNP:rs11551250</li>									<li>rs3210935</li><li>rs11551250</li>	2
Q99829	8904		<li>Q->R at 211: in dbSNP:rs6579255</li><li>P->R at 347: in dbSNP:rs12481228</li><li>P->L at 535: in dbSNP:rs11543239</li>									<li>rs6579255</li><li>rs11543239</li><li>rs12481228</li>	2
Q99832	10574		<li>T->A at 259: in dbSNP:rs2231427</li>									rs2231427	2
Q99835	6608		<li>D->H at 473: in dbSNP:rs17710891</li><li>W->L at 535: in basal cell carcinoma; somatic mutation</li><li>R->Q at 562: in basal cell carcinoma; somatic mutation</li>									rs17710891	2
Q99836	4615		<li>L->P at 93: in MYD88D; results in a loss of function, MIM: 612260</li><li>R->C at 196: in MYD88D; results in a loss of function, MIM: 612260</li>								MYD88 deficiency (MYD88D) [MIM:612260]		2
Q99848	10969		<li>R->H at 223: in dbSNP:rs7163</li>									rs7163	2
Q99873	3276		<li>K->M at 78: in dbSNP:rs1804486</li><li>L->F at 158: in dbSNP:rs11673683</li>									<li>rs11673683</li><li>rs1804486</li>	2
Q99879	8342		<li>H->Y at 110: in a colorectal cancer sample; somatic mutation</li>										2
Q99880	8340		<li>L->P at 4: in dbSNP:rs200484</li>									rs200484	2
Q99884	6534		<li>L->V at 345: in dbSNP:rs1468564</li>									rs1468564	2
Q99895	11330		<li>D->H at 35</li><li>D->N at 35</li><li>R->Q at 37: normal secretion and activity</li><li>Q->R at 48: reduced secretion and activity</li><li>A->T at 73: reduced secretion; abolishes activity</li><li>R->W at 80</li><li>K->E at 172: in dbSNP:rs34949635</li><li>G->R at 217</li><li>G->S at 217: reduced secretion and activity</li><li>G->S at 218</li><li>L->R at 220</li><li>E->A at 225</li><li>V->I at 235: slightly reduced secretion and activity</li><li>P->L at 249</li><li>R->W at 254: reduced secretion; normal activity</li><li>D->N at 260</li>	secretion	GO:0046903							rs34949635	2
Q99928	2567		<li>T->A at 352: in dbSNP:rs2066712</li>									rs2066712	2
Q99943	10554		<li>P->S at 30: in dbSNP:rs11964847</li>									rs11964847	2
Q99944	80864		<li>R->K at 86: in dbSNP:rs3096697</li><li>A->E at 204: in dbSNP:rs2071289</li><li>G->C at 277: in dbSNP:rs35587174</li>									<li>rs2071289</li><li>rs3096697</li><li>rs35587174</li>	2
Q99946	80863		<li>A->T at 94: in a breast cancer sample; somatic mutation</li>										2
Q99952	26469		<li>M->V at 193: in dbSNP:rs3739124</li>									rs3739124	2
Q99958	2303		<li>S->L at 125: in LYD, MIM: 153400</li>								Lymphedema-distichiasis syndrome (LYD) [MIM:153400]		2
Q99959			<li>S->F at 140: in ARVD9, MIM: 609040</li><li>S->F at 615: in ARVD9, MIM: 609040</li><li>K->Q at 654: in ARVD9, MIM: 609040</li><li>C->R at 796: in ARVD9, MIM: 609040</li>								Familial arrhythmogenic right ventricular dysplasia 9 (ARVD9) [MIM:609040]		2
Q99965	2515		<li>G->W at 10: in dbSNP:rs34800519</li>									rs34800519	2
Q99966	4435		<li>Q->H at 96: in dbSNP:rs3012627</li>									rs3012627	2
Q99973	7011		<li>S->P at 116: in dbSNP:rs1760897</li><li>T->M at 137: in dbSNP:rs10083536</li><li>N->K at 307: in dbSNP:rs1760898</li><li>K->R at 368: in dbSNP:rs2228035</li><li>K->N at 434: in dbSNP:rs17111188</li><li>S->L at 510: in dbSNP:rs4982051</li><li>A->G at 553: in dbSNP:rs2228040</li><li>R->H at 933: in dbSNP:rs34179031</li><li>R->C at 1055: in dbSNP:rs1760903</li><li>R->Q at 1155: in dbSNP:rs2228041</li><li>S->P at 1195: in dbSNP:rs1760904</li><li>R->Q at 1351: in dbSNP:rs12886088</li><li>G->R at 1408: in dbSNP:rs2229100</li><li>S->T at 1447: in dbSNP:rs1713457</li><li>C->Y at 1468: in dbSNP:rs1713456</li><li>R->Q at 1661: in dbSNP:rs34401320</li><li>R->Q at 1772: in dbSNP:rs8022805</li><li>V->I at 2214: in dbSNP:rs1713449</li><li>A->S at 2310: in dbSNP:rs35929175</li><li>I->M at 2486: in dbSNP:rs938886</li><li>H->R at 2562: in dbSNP:rs2104978</li>									<li>rs10083536</li><li>rs34179031</li><li>rs2229100</li><li>rs938886</li><li>rs4982051</li><li>rs1713449</li><li>rs34401320</li><li>rs2104978</li><li>rs2228041</li><li>rs1760897</li><li>rs1760898</li><li>rs2228040</li><li>rs12886088</li><li>rs8022805</li><li>rs1713456</li><li>rs1713457</li><li>rs1760904</li><li>rs35929175</li><li>rs2228035</li><li>rs17111188</li><li>rs1760903</li>	2
Q99983	4958		<li>D->G at 200: in dbSNP:rs34069871</li><li>E->G at 212: in dbSNP:rs34413259</li><li>S->N at 221: in dbSNP:rs34860658</li><li>I->T at 282: in dbSNP:rs35779901</li><li>C->W at 353: in dbSNP:rs34059114</li>									<li>rs34069871</li><li>rs34059114</li><li>rs34860658</li><li>rs34413259</li><li>rs35779901</li>	2
Q99985	10512		<li>F->S at 302: in dbSNP:rs35070362</li><li>V->M at 337: in dbSNP:rs1527482</li>									<li>rs35070362</li><li>rs1527482</li>	2
Q99988	9518		<li>V->L at 9: in dbSNP:rs1059519</li><li>T->S at 48: in dbSNP:rs1059369</li><li>H->D at 202: in dbSNP:rs1058587</li>									<li>rs1058587</li><li>rs1059369</li><li>rs1059519</li>	2
Q99990	51442		<li>T->I at 59: in dbSNP:rs3027860</li>									rs3027860	2
Q99996			<li>M->I at 475: in dbSNP:rs6964587</li><li>K->KQ at 1347</li><li>S->L at 1582: in LQT11, MIM: 611820</li><li>M->I at 2421: in a colorectal cancer sample; somatic mutation, MIM: 611820</li><li>K->R at 2496: in dbSNP:rs35759833, MIM: 611820</li><li>N->S at 2804: in dbSNP:rs6960867, MIM: 611820</li><li>P->S at 2983: in dbSNP:rs1063242, MIM: 611820</li><li>E->Q at 3301: in a breast cancer sample; somatic mutation, MIM: 611820</li><li>Q->R at 3448: in dbSNP:rs34956633, MIM: 611820</li><li>M->V at 3618: in dbSNP:rs34327395, MIM: 611820</li>								Long QT syndrome type 11 (LQT11) [MIM:611820]	<li>rs34956633</li><li>rs1063242</li><li>rs35759833</li><li>rs34327395</li><li>rs6960867</li><li>rs6964587</li>	2
Q99999	9514		<li>V->M at 29: in dbSNP:rs2267161</li>									rs2267161	2
Q9BPU9	80776		<li>I->M at 11: in dbSNP:rs2241714</li>									rs2241714	2
Q9BPV8			<li>M->T at 179: in dbSNP:rs1466684</li>									rs1466684	2
Q9BPW4	80832		<li>I->V at 9: in dbSNP:rs132736</li><li>V->L at 12: in dbSNP:rs80587</li><li>M->V at 159: in dbSNP:rs132700</li>									<li>rs80587</li><li>rs132736</li><li>rs132700</li>	2
Q9BPW8	8508		<li>E->K at 245: in dbSNP:rs1058646</li>									rs1058646	2
Q9BPW9	10170		<li>D->H at 286: in dbSNP:rs11695788</li>									rs11695788	2
Q9BPX1	51171		<li>N->D at 31: in dbSNP:rs8110220</li><li>R->W at 130: in dbSNP:rs35299026</li>									<li>rs8110220</li><li>rs35299026</li>	2
Q9BPX3	64151		<li>A->P at 64: in dbSNP:rs35722563</li><li>M->T at 265: in a colorectal cancer sample; somatic mutation</li><li>M->I at 581: in dbSNP:rs3795243</li>									<li>rs35722563</li><li>rs3795243</li>	2
Q9BPX7	79020		<li>G->E at 265: in dbSNP:rs3735471</li>									rs3735471	2
Q9BQ08	84666		<li>P->L at 20: in dbSNP:rs11708527</li>									rs11708527	2
Q9BQ16	50859		<li>I->V at 112: in dbSNP:rs9685645</li>									rs9685645	2
Q9BQ31	3790		<li>V->L at 225: in dbSNP:rs17856097</li><li>A->T at 450: in dbSNP:rs4832524</li>									<li>rs17856097</li><li>rs4832524</li>	2
Q9BQ50	11219		<li>R->C at 180</li>										2
Q9BQ51	80380		<li>S->T at 58: in dbSNP:rs12339171</li><li>F->S at 229: in dbSNP:rs7854303</li><li>I->T at 241: in dbSNP:rs7854413</li>									<li>rs7854413</li><li>rs7854303</li><li>rs12339171</li>	2
Q9BQ52	60528		<li>S->F at 52: in dbSNP:rs9895963</li><li>R->Q at 211: in CaP, MIM: 176807</li><li>S->L at 217: common polymorphism; CaP susceptibility; risk of CaP increased in Japanese; does not affect the enzymatic activity; dbSNP:rs4792311, MIM: 176807</li><li>D->N at 436: in dbSNP:rs3760317, MIM: 176807</li><li>G->R at 487: in CaP, MIM: 176807</li><li>A->T at 541: common polymorphism; CaP susceptibility; risk of CaP increased in Japanese; does not affect the enzymatic activity; dbSNP:rs34152967, MIM: 176807</li><li>E->V at 622: in CaP; in a Finnish family; higher frequency in CaP cases, MIM: 176807</li><li>S->L at 627, MIM: 176807</li><li>R->H at 781: in CaP; in one family with high frequency of CaP; does not affect the enzymatic activity, MIM: 176807</li><li>G->R at 806: in CaP, MIM: 176807</li>								Prostate cancer (CaP) [MIM:176807]	<li>rs9895963</li><li>rs3760317</li><li>rs4792311</li><li>rs34152967</li>	2
Q9BQ65	79650		<li>R->K at 115: in dbSNP:rs35025252</li><li>Q->E at 250: in dbSNP:rs16959641</li>									<li>rs35025252</li><li>rs16959641</li>	2
Q9BQ67			<li>R->Q at 319: in dbSNP:rs2302951</li>									rs2302951	2
Q9BQ75	84319		<li>E->G at 138: in dbSNP:rs11537817</li><li>V->I at 166: in dbSNP:rs11537816</li>									<li>rs11537817</li><li>rs11537816</li>	2
Q9BQ95	51295		<li>R->C at 278: in dbSNP:rs34803265</li><li>G->R at 406: in dbSNP:rs2302971</li>									<li>rs34803265</li><li>rs2302971</li>	2
Q9BQA1	79084		<li>S->I at 48: in dbSNP:rs7416672</li>									rs7416672	2
Q9BQA5	25988	<ul><li>Y->A at 381: Abolishes DNA-Binding</li></ul>	<li>P->S at 4: in dbSNP:rs17850972</li><li>S->C at 78: in dbSNP:rs17850974</li><li>K->R at 352: in dbSNP:rs34118252</li><li>V->A at 493: in dbSNP:rs100803</li>			DNA-Binding	GO:0003677					<li>rs100803</li><li>rs17850974</li><li>rs34118252</li><li>rs17850972</li>	3
Q9BQB6	79001		<li>V->L at 29: in coumarin resistance: in dbSNP rsrs28940302, MIM: 122700</li><li>V->A at 45: in coumarin resistance: in dbSNP rsrs28940303, MIM: 122700</li><li>R->G at 58: in coumarin resistance: in dbSNP rsrs28940304, MIM: 122700</li><li>R->W at 98: in VKCFD2, MIM: 607473</li><li>L->R at 128: in coumarin resistance: in dbSNP rsrs28940305, MIM: 122700</li>								<li>Coumarin resistance [MIM:122700]</li><li>Combined eficiency of all vitamin K-dependent clotting factors type 2 (VKCFD2) [MIM:607473]</li>	<li>rs28940303</li><li>rs28940304</li><li>rs28940305</li><li>rs28940302</li>	2
Q9BQD3	79036		<li>P->A at 157: in dbSNP:rs7648</li>									rs7648	2
Q9BQE5	23780		<li>R->C at 182: in dbSNP:rs7285167</li><li>I->V at 245: in dbSNP:rs132760</li>									<li>rs7285167</li><li>rs132760</li>	2
Q9BQG0	10514		<li>Q->E at 8: in dbSNP:rs3809849</li><li>H->Y at 680: in dbSNP:rs899440</li><li>H->P at 958: in dbSNP:rs879797</li><li>M->L at 1208: in dbSNP:rs9905742</li>									<li>rs3809849</li><li>rs879797</li><li>rs9905742</li><li>rs899440</li>	2
Q9BQG1	84258		<li>S->F at 474: in a breast cancer sample; somatic mutation</li>										2
Q9BQI3	27102		<li>R->T at 117: in dbSNP rsrs34889754</li><li>K->T at 132: in dbSNP rsrs34851195</li><li>R->K at 134: in dbSNP rsrs55744865</li><li>P->S at 139: in dbSNP rsrs55963745</li><li>R->H at 145: in dbSNP rsrs55971369</li><li>G->S at 202: in a lung adenocarcinoma sample; somatic mutation</li><li>F->L at 292: in dbSNP rsrs55982710</li><li>L->H at 319: in dbSNP:rs34909691</li><li>K->R at 558: in dbSNP:rs2640</li>									<li>rs34851195</li><li>rs34909691</li><li>rs55971369</li><li>rs55982710</li><li>rs2640</li><li>rs34889754</li><li>rs55963745</li><li>rs55744865</li>	2
Q9BQI5	84251		<li>E->Q at 112: in dbSNP:rs17490057</li><li>K->R at 131: in dbSNP:rs7526812</li><li>P->Q at 161: in dbSNP:rs17855645</li><li>K->E at 575: in dbSNP:rs17854026</li>									<li>rs17855645</li><li>rs17854026</li><li>rs17490057</li><li>rs7526812</li>	2
Q9BQI7	84249		<li>R->Q at 31: in dbSNP:rs34880693</li><li>R->M at 51: in dbSNP:rs3797902</li><li>R->G at 363: in dbSNP:rs35714177</li>									<li>rs34880693</li><li>rs35714177</li><li>rs3797902</li>	2
Q9BQK8	64900		<li>Q->H at 679: in dbSNP:rs12625565</li>									rs12625565	2
Q9BQL6	55612		<li>I->T at 160: in dbSNP:rs16991866</li><li>R->K at 526: in dbSNP:rs2232074</li><li>A->T at 534: in dbSNP:rs2232078</li>									<li>rs2232074</li><li>rs16991866</li><li>rs2232078</li>	2
Q9BQM9	128864		<li>Q->R at 62: in dbSNP:rs7260921</li>									rs7260921	2
Q9BQN1	128876		<li>E->K at 134: in dbSNP:rs35162625</li><li>Y->H at 600: in dbSNP:rs35560631</li><li>R->Q at 621: in dbSNP:rs2425049</li><li>R->C at 645: in dbSNP:rs35518957</li>									<li>rs35518957</li><li>rs35162625</li><li>rs2425049</li><li>rs35560631</li>	2
Q9BQP7	92667		<li>S->C at 15: in dbSNP:rs11551768</li>									rs11551768	2
Q9BQP9	128861		<li>A->E at 41: in dbSNP:rs17124391</li><li>V->I at 136: in dbSNP:rs3818222</li>									<li>rs17124391</li><li>rs3818222</li>	2
Q9BQQ3	64689		<li>T->M at 425: in dbSNP:rs1109643</li>									rs1109643	2
Q9BQS6	94086		<li>Q->P at 2: in dbSNP:rs1122326</li>									rs1122326	2
Q9BQS7	9843		<li>A->T at 595: in dbSNP:rs17216603</li>									rs17216603	2
Q9BQS8	79443		<li>Q->R at 250: in dbSNP:rs4683158</li><li>R->H at 282: in dbSNP:rs9875356</li><li>G->A at 321: in dbSNP:rs3733100</li><li>T->M at 381: in dbSNP:rs3733101</li><li>A->V at 679: in dbSNP:rs3796375</li><li>N->D at 1001: in dbSNP:rs13059238</li>									<li>rs9875356</li><li>rs3733101</li><li>rs3733100</li><li>rs13059238</li><li>rs4683158</li><li>rs3796375</li>	2
Q9BQT8	89874		<li>W->C at 299: in dbSNP:rs17104991</li>									rs17104991	2
Q9BQT9	9746		<li>S->G at 209: in dbSNP:rs7302230</li><li>H->Y at 874: in a colorectal cancer sample; somatic mutation</li>									rs7302230	2
Q9BR09	140825		<li>E->K at 211: in dbSNP:rs35342327</li>									rs35342327	2
Q9BR10	128497		<li>P->L at 94: in dbSNP:rs3827040</li>									rs3827040	2
Q9BR11	90204		<li>R->Q at 101: in dbSNP:rs3746500</li>									rs3746500	2
Q9BR26	128506		<li>P->S at 565: in dbSNP:rs847079</li>									rs847079	2
Q9BR39	57158		<li>A->T at 396: in dbSNP:rs3810510</li>									rs3810510	2
Q9BR77	84318		<li>S->R at 25: in dbSNP:rs4980895</li><li>M->T at 335: in dbSNP:rs735295</li>									<li>rs4980895</li><li>rs735295</li>	2
Q9BR84	84527		<li>T->N at 251: in dbSNP:rs16979670</li>									rs16979670	2
Q9BRB3	9091		<li>T->A at 14: in dbSNP:rs2071979</li><li>C->R at 592: in dbSNP:rs1045277</li><li>C->R at 668: in dbSNP:rs710924</li><li>C->Y at 668: in dbSNP:rs710925</li>									<li>rs710924</li><li>rs1045277</li><li>rs710925</li><li>rs2071979</li>	2
Q9BRD0	84811		<li>R->C at 120: in dbSNP:rs10488698</li><li>P->L at 148: in dbSNP:rs11820589</li><li>R->I at 242: in dbSNP:rs11216131</li><li>S->C at 388: in dbSNP:rs35004487</li>									<li>rs11820589</li><li>rs10488698</li><li>rs35004487</li><li>rs11216131</li>	2
Q9BRF8	55313		<li>A->D at 19: in dbSNP:rs3748976</li><li>V->I at 86: in dbSNP:rs3748980</li><li>R->K at 241: in dbSNP:rs1713480</li><li>H->P at 290: in dbSNP:rs11645068</li>									<li>rs1713480</li><li>rs11645068</li><li>rs3748980</li><li>rs3748976</li>	2
Q9BRG1	84313		<li>I->V at 76: in dbSNP:rs34494804</li>									rs34494804	2
Q9BRJ9	55897		<li>A->P at 53: in dbSNP:rs6496598</li>									rs6496598	2
Q9BRK4	84445	<ul><li>L->A at 638: Induces nuclear accumulation. Impairs nuclear exclusion of beta-catenin; when associated with A-640</li><li>L->A at 640: Induces nuclear accumulation. Impairs nuclear exclusion of beta-catenin; when associated with A-38</li></ul>	<li>R->H at 121: in a colorectal cancer sample; somatic mutation</li><li>G->R at 291: in a breast cancer sample; somatic mutation</li><li>R->W at 299: in dbSNP:rs2275381</li>							<li>Q02248</li><li>P26233</li><li>P35223</li><li>P35222</li><li>P35224</li><li>Q9WU82</li>		rs2275381	3
Q9BRK5	51150		<li>N->D at 50: in dbSNP:rs12745364</li><li>A->T at 148: in a colorectal cancer sample; somatic mutation</li>									rs12745364	2
Q9BRP4	80227		<li>A->V at 53: in dbSNP:rs17850051</li><li>C->S at 139: in dbSNP:rs2067912</li><li>A->G at 209: in dbSNP:rs3741138</li>									<li>rs17850051</li><li>rs3741138</li><li>rs2067912</li>	2
Q9BRP8	84305		<li>E->Q at 66: in dbSNP:rs3802998</li>									rs3802998	2
Q9BRQ3	84304		<li>G->C at 36: in dbSNP:rs2286612</li><li>T->R at 129: in dbSNP:rs34448455</li><li>R->Q at 260: in dbSNP:rs633561</li><li>P->L at 263: in dbSNP:rs633557</li>									<li>rs633561</li><li>rs2286612</li><li>rs34448455</li><li>rs633557</li>	2
Q9BRQ6	84303		<li>A->S at 95: in dbSNP:rs2272487</li>									rs2272487	2
Q9BRQ8	84883		<li>M->T at 135: in dbSNP:rs10999147</li><li>D->N at 288: in dbSNP:rs2271694</li>									<li>rs10999147</li><li>rs2271694</li>	2
Q9BRR0	80317		<li>R->T at 3: in dbSNP:rs733743</li><li>G->V at 33: in dbSNP:rs3857554</li><li>F->L at 34: in dbSNP:rs3857555</li><li>V->M at 189: in dbSNP:rs17856167</li><li>K->E at 200: in dbSNP:rs13201752</li><li>K->T at 200: in dbSNP:rs13201753</li><li>H->Q at 246: in dbSNP:rs213227</li>									<li>rs13201752</li><li>rs13201753</li><li>rs3857554</li><li>rs3857555</li><li>rs733743</li><li>rs213227</li><li>rs17856167</li>	2
Q9BRR8	55094		<li>L->P at 476: in dbSNP:rs2287679</li><li>L->S at 520: in dbSNP:rs16967805</li><li>H->R at 724: in dbSNP:rs10416265</li><li>L->S at 728: in dbSNP:rs10421769</li><li>E->K at 909: in dbSNP:rs16967824</li>									<li>rs10416265</li><li>rs10421769</li><li>rs2287679</li><li>rs16967824</li><li>rs16967805</li>	2
Q9BRT8	55871		<li>A->V at 8: in dbSNP:rs16925054</li>									rs16925054	2
Q9BRU9	84294		<li>H->R at 170: in dbSNP:rs16888722</li><li>K->Q at 195: in dbSNP:rs1133950</li><li>P->L at 215: in dbSNP:rs16888728</li>									<li>rs16888728</li><li>rs1133950</li><li>rs16888722</li>	2
Q9BRX2	53918		<li>M->L at 221: in dbSNP:rs1499280</li>									rs1499280	2
Q9BRX9	84292		<li>G->S at 278: in dbSNP:rs34373915</li><li>R->Q at 304: in dbSNP:rs35092999</li>									<li>rs35092999</li><li>rs34373915</li>	2
Q9BRY0	29985		<li>F->L at 100: in dbSNP:rs11539244</li><li>P->L at 257: in dbSNP:rs35594294</li>									<li>rs11539244</li><li>rs35594294</li>	2
Q9BS31	65251		<li>G->D at 352: in dbSNP:rs6509593</li><li>A->T at 469: in dbSNP:rs1433083</li>									<li>rs1433083</li><li>rs6509593</li>	2
Q9BS40	56925		<li>H->R at 53: in dbSNP:rs8455</li>									rs8455	2
Q9BS91	55032		<li>N->I at 247: in dbSNP:rs17849939</li>									rs17849939	2
Q9BS92	55335		<li>A->P at 94: in dbSNP:rs10761084</li><li>K->E at 154: in dbSNP:rs3739740</li><li>A->G at 159: in dbSNP:rs3739741</li>									<li>rs3739740</li><li>rs3739741</li><li>rs10761084</li>	2
Q9BSA4	94015		<li>P->H at 11: in dbSNP:rs11538875</li><li>H->D at 85: in dbSNP:rs11538876</li><li>T->A at 262: in dbSNP:rs35682745</li><li>A->S at 265: in dbSNP:rs35999669</li><li>T->I at 419: in dbSNP:rs12600564</li><li>D->E at 423: in dbSNP:rs9899862</li>									<li>rs9899862</li><li>rs35999669</li><li>rs12600564</li><li>rs35682745</li><li>rs11538875</li><li>rs11538876</li>	2
Q9BSA9	84286		<li>Q->P at 65: in dbSNP:rs34884217</li><li>M->T at 393: in dbSNP:rs34311866</li>									<li>rs34884217</li><li>rs34311866</li>	2
Q9BSE2	84283		<li>V->M at 147: in dbSNP:rs6684514</li>									rs6684514	2
Q9BSE4			<li>T->A at 108: in dbSNP:rs3779234</li><li>H->L at 200: in dbSNP:rs2305335</li>									<li>rs2305335</li><li>rs3779234</li>	2
Q9BSE5	79814		<li>G->R at 105: in dbSNP:rs6429757</li><li>R->Q at 140: in dbSNP:rs11580170</li>									<li>rs11580170</li><li>rs6429757</li>	2
Q9BSF0	84281		<li>T->I at 56: in dbSNP:rs6753459</li>									rs6753459	2
Q9BSF8	84280		<li>T->A at 145: in dbSNP:rs34185489</li>									rs34185489	2
Q9BSG5	83546		<li>G->A at 198: in dbSNP:rs13628</li>									rs13628	2
Q9BSH4	51204		<li>G->S at 145: in dbSNP:rs35252424</li>									rs35252424	2
Q9BSH5	81932		<li>G->E at 146: in dbSNP:rs1043836</li>									rs1043836	2
Q9BSI4	26277		<li>A->T at 43: in dbSNP:rs35653076</li><li>G->D at 237: in dbSNP:rs17102313</li><li>P->S at 241: in dbSNP:rs17102311</li><li>K->E at 280: in ADDKC, MIM: 127550</li><li>R->H at 282: in ADDKC and ERBMF, MIM: 268130</li><li>R->S at 282: in ADDKC, MIM: 127550</li>								<li>Retinopathy exudative with bone marrow failure (ERBMF) [MIM:268130]</li><li>Dyskeratosis congenita autosomal dominant (ADDKC) [MIM:127550]</li>	<li>rs35653076</li><li>rs17102313</li><li>rs17102311</li>	2
Q9BSJ2	10844		<li>A->T at 111: in dbSNP:rs2298121</li><li>I->T at 193: in dbSNP:rs11101682</li><li>A->T at 809: in dbSNP:rs11101677</li>									<li>rs11101677</li><li>rs2298121</li><li>rs11101682</li>	2
Q9BSJ5	55028		<li>G->S at 226: in dbSNP:rs9902726</li><li>K->Q at 322: in dbSNP:rs34784472</li><li>F->L at 356: in dbSNP:rs745143</li><li>N->H at 395: in dbSNP:rs904384</li><li>C->R at 396: in dbSNP:rs904383</li><li>Q->H at 420: in dbSNP:rs745142</li><li>A->T at 522: in dbSNP:rs1566286</li>									<li>rs904383</li><li>rs745143</li><li>rs745142</li><li>rs904384</li><li>rs1566286</li><li>rs34784472</li><li>rs9902726</li>	2
Q9BSJ8	23344		<li>R->C at 764: in dbSNP:rs35075600</li>									rs35075600	2
Q9BSK1			<li>A->V at 77: in dbSNP:rs17856123</li><li>R->C at 116: in dbSNP:rs17849895</li><li>R->K at 227: in dbSNP:rs9807847</li><li>K->E at 239: in dbSNP:rs2288868</li><li>R->C at 339: in dbSNP:rs9807842</li><li>R->S at 350: in dbSNP:rs9807853</li><li>E->K at 366: in dbSNP:rs10407547</li><li>T->I at 368: in dbSNP:rs10407911</li>									<li>rs9807853</li><li>rs17856123</li><li>rs9807842</li><li>rs2288868</li><li>rs9807847</li><li>rs10407547</li><li>rs17849895</li><li>rs10407911</li>	2
Q9BSK2	84275		<li>L->I at 242: in dbSNP:rs35819756</li>									rs35819756	2
Q9BSK4	55527		<li>H->Y at 500: may to be associated with polycystic ovary syndrome </li>										2
Q9BSL1	10422		<li>E->D at 374: in dbSNP:rs11103231</li>									rs11103231	2
Q9BSN7	79652		<li>G->A at 57: in dbSNP:rs1057612</li>									rs1057612	2
Q9BSQ5	83605		<li>V->I at 53: in dbSNP:rs2107732</li><li>V->I at 120: in dbSNP:rs11552377</li><li>L->R at 198: in CCM2, MIM: 603284</li><li>S->N at 289: in dbSNP:rs2289366, MIM: 603284</li>							Q9BSQ5	Cerebral cavernous malformations type 2 (CCM2) [MIM:603284]	<li>rs2289366</li><li>rs11552377</li><li>rs2107732</li>	2
Q9BSU3	84779		<li>A->T at 6: in dbSNP:rs3811765</li><li>L->F at 19: in dbSNP:rs17003712</li>									<li>rs17003712</li><li>rs3811765</li>	2
Q9BSW2	84766		<li>R->G at 7: in dbSNP:rs9788233</li><li>A->T at 98: in dbSNP:rs17836273</li><li>A->V at 128: in dbSNP:rs242017</li><li>H->P at 136: in dbSNP:rs34088152</li><li>E->K at 154: in dbSNP:rs242018</li><li>H->Q at 212: in dbSNP:rs36030417</li>									<li>rs36030417</li><li>rs17836273</li><li>rs242017</li><li>rs242018</li><li>rs9788233</li><li>rs34088152</li>	2
Q9BT04	80199		<li>A->S at 34: in dbSNP:rs35138412</li><li>G->D at 175: in dbSNP:rs35002951</li><li>T->I at 400: in dbSNP:rs12610577</li>									<li>rs35138412</li><li>rs12610577</li><li>rs35002951</li>	2
Q9BT09	10695		<li>M->I at 145: in dbSNP:rs1063252</li><li>S->I at 231: in dbSNP:rs9471969</li>									<li>rs9471969</li><li>rs1063252</li>	2
Q9BT22	56052		<li>S->R at 150: in CDG1K; impairs activity, MIM: 608540</li><li>S->L at 258: in CDG1K; impairs activity: in dbSNP rsrs28939378, MIM: 608540</li><li>S->N at 267: in dbSNP:rs17849848, MIM: 608540</li><li>L->M at 325: in dbSNP:rs17852920, MIM: 608540</li><li>Q->P at 342: in CDG1K; impairs activity, MIM: 608540</li><li>D->E at 429: no effect on activity; dbSNP:rs9745522, MIM: 608540</li><li>R->W at 438: in dbSNP:rs16835020, MIM: 608540</li><li>Q->R at 455: in dbSNP:rs17856919, MIM: 608540</li>								Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]	<li>rs17856919</li><li>rs16835020</li><li>rs9745522</li><li>rs17852920</li><li>rs17849848</li><li>rs28939378</li>	2
Q9BT25	93323		<li>G->R at 83: in dbSNP:rs1130222</li>									rs1130222	2
Q9BT30	84266		<li>R->Q at 191: in dbSNP:rs7540</li>									rs7540	2
Q9BT51			<li>L->V at 11: in dbSNP:rs2838770</li>									rs2838770	2
Q9BT76	80761		<li>Q->R at 293: in dbSNP:rs1636632</li><li>W->R at 319: in dbSNP:rs1799126</li>									<li>rs1799126</li><li>rs1636632</li>	2
Q9BT88	23208		<li>Q->H at 48: in dbSNP:rs822522</li><li>G->V at 231: in dbSNP:rs17853892</li>									<li>rs17853892</li><li>rs822522</li>	2
Q9BT92	84260		<li>K->R at 127: in dbSNP:rs10774978</li><li>E->K at 417: in dbSNP:rs16940680</li>									<li>rs10774978</li><li>rs16940680</li>	2
Q9BTA9	51322		<li>S->R at 242: in dbSNP:rs11595926</li><li>T->A at 309: in dbSNP:rs2232791</li><li>S->L at 475: in a colorectal cancer sample; somatic mutation</li><li>T->S at 531: in dbSNP:rs7127</li>									<li>rs7127</li><li>rs2232791</li><li>rs11595926</li>	2
Q9BTC0	11083		<li>P->L at 13: in dbSNP:rs6090161</li><li>P->L at 276: in dbSNP:rs6090160</li>									<li>rs6090161</li><li>rs6090160</li>	2
Q9BTE0	26151		<li>C->R at 56: in dbSNP:rs2305213</li>									rs2305213	2
Q9BTN0	79414		<li>A->V at 14: in dbSNP:rs34933126</li>									rs34933126	2
Q9BTP7	91442		<li>S->F at 126: in dbSNP:rs36017455</li><li>S->L at 158: in dbSNP:rs2304103</li><li>I->T at 192: in dbSNP:rs3816032</li>									<li>rs2304103</li><li>rs36017455</li><li>rs3816032</li>	2
Q9BTT6	55227		<li>I->V at 193: in dbSNP:rs9349688</li>									rs9349688	2
Q9BTV4	79188		<li>K->N at 168: in dbSNP:rs4685076</li><li>M->T at 179: in dbSNP:rs2340917</li><li>Y->C at 233: in dbSNP:rs35924492</li><li>A->V at 318: in dbSNP:rs11924644</li><li>S->L at 358: in ARVD5, MIM: 604400</li>								Familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5) [MIM:604400]	<li>rs2340917</li><li>rs35924492</li><li>rs4685076</li><li>rs11924644</li>	2
Q9BTV6	92715		<li>G->R at 158: in dbSNP:rs821314</li>									rs821314	2
Q9BTV7	81928		<li>T->K at 428: in dbSNP:rs6089219</li>									rs6089219	2
Q9BTX1	55706		<li>G->D at 154: in dbSNP:rs17849721</li>									rs17849721	2
Q9BTX3	29100		<li>D->Y at 82: in dbSNP:rs17851038</li><li>L->P at 102: in dbSNP:rs11553801</li>									<li>rs11553801</li><li>rs17851038</li>	2
Q9BTY2	2519		<li>V->M at 356: in dbSNP:rs3762002</li><li>Y->H at 371: in dbSNP:rs3762001</li>									<li>rs3762002</li><li>rs3762001</li>	2
Q9BU19	55657		<li>P->R at 230: in dbSNP:rs13313088</li>									rs13313088	2
Q9BU20	79363		<li>E->G at 86: in dbSNP:rs17849687</li>									rs17849687	2
Q9BU23	91289		<li>P->L at 68: in a breast cancer sample; somatic mutation</li><li>T->M at 479: in dbSNP:rs8136495</li>									rs8136495	2
Q9BU64	79172		<li>Q->R at 34: in dbSNP:rs1550116</li>									rs1550116	2
Q9BU70	51531		<li>S->P at 7: in dbSNP:rs3183927</li><li>V->A at 252: in dbSNP:rs35606344</li><li>V->M at 324: in dbSNP:rs2282192</li>									<li>rs2282192</li><li>rs3183927</li><li>rs35606344</li>	2
Q9BUA6	93408		<li>M->T at 46: in dbSNP:rs12216595</li>									rs12216595	2
Q9BUB4	23536		<li>H->N at 167: in dbSNP:rs3743598</li><li>T->N at 203: in dbSNP:rs3743599</li>									<li>rs3743599</li><li>rs3743598</li>	2
Q9BUB7	54968		<li>A->P at 34: in dbSNP:rs8075</li><li>N->K at 228: in dbSNP:rs35564486</li><li>T->A at 250: in dbSNP:rs1053079</li><li>D->E at 259: in dbSNP:rs1053077</li>									<li>rs8075</li><li>rs35564486</li><li>rs1053079</li><li>rs1053077</li>	2
Q9BUD6	10417		<li>R->G at 38: in dbSNP:rs6836335</li><li>P->L at 40: in dbSNP:rs922697</li><li>E->A at 122: in dbSNP:rs11247975</li><li>V->L at 242: in dbSNP:rs2279279</li>									<li>rs2279279</li><li>rs11247975</li><li>rs6836335</li><li>rs922697</li>	2
Q9BUG6	79149		<li>E->Q at 146: in a colorectal cancer sample; somatic mutation</li><li>G->V at 337: in dbSNP:rs34187696</li>									rs34187696	2
Q9BUI4	10623		<li>H->R at 243: in dbSNP:rs1044697</li>									rs1044697	2
Q9BUJ0	25864		<li>R->Q at 32: in dbSNP:rs17849626</li><li>C->W at 61: in dbSNP:rs404527</li>									<li>rs17849626</li><li>rs404527</li>	2
Q9BUJ2	11100		<li>G->C at 91: in dbSNP:rs17849624</li>									rs17849624	2
Q9BUK6	55154		<li>T->I at 324: in dbSNP:rs622288</li>									rs622288	2
Q9BUL8	11235		<li>D->A at 102: in dbSNP:rs1129087</li>									rs1129087	2
Q9BUN8	79139		<li>I->V at 171: in dbSNP:rs2272722</li>									rs2272722	2
Q9BUP0	80303		<li>K->R at 186: in dbSNP:rs11550699</li>									rs11550699	2
Q9BUR4	55135		<li>P->S at 11: in dbSNP:rs17880282</li><li>R->G at 68: in dbSNP:rs2287499</li><li>A->G at 522: in dbSNP:rs7640</li>									<li>rs2287499</li><li>rs7640</li><li>rs17880282</li>	2
Q9BUT1	56898		<li>N->S at 70: in dbSNP:rs1054707</li>									rs1054707	2
Q9BUU2	79091		<li>W->S at 59: in dbSNP:rs2270286</li><li>A->T at 219: in dbSNP:rs2302607</li>									<li>rs2270286</li><li>rs2302607</li>	2
Q9BUV0	57035		<li>Y->H at 147: in dbSNP:rs34619962</li><li>E->G at 239: in dbSNP:rs1043879</li>									<li>rs1043879</li><li>rs34619962</li>	2
Q9BUY5	79088		<li>A->V at 4: in dbSNP:rs2042200</li><li>T->A at 219: in dbSNP:rs10420644</li>									<li>rs2042200</li><li>rs10420644</li>	2
Q9BUY7	90141		<li>A->V at 15: in dbSNP:rs35435801</li><li>D->G at 31: in dbSNP:rs34486581</li><li>T->A at 45: in dbSNP:rs34911716</li>									<li>rs34911716</li><li>rs35435801</li><li>rs34486581</li>	2
Q9BUZ4	9618		<li>A->T at 173: in dbSNP rsrs35932778</li><li>R->G at 178: in dbSNP:rs1044066</li>									<li>rs35932778</li><li>rs1044066</li>	2
Q9BV10	79087		<li>T->M at 67: in CDG1G, MIM: 607143</li><li>G->R at 101: in CDG1G, MIM: 607143</li><li>F->V at 142: in CDG1G; dbSNP:rs28942090, MIM: 607143</li><li>R->Q at 146: in CDG1G, MIM: 607143</li><li>L->P at 158: in CDG1G, MIM: 607143</li><li>I->V at 393: in dbSNP:rs3922872, MIM: 607143</li>								Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143]	<li>rs3922872</li><li>rs28942090</li>	2
Q9BV29	90416		<li>K->I at 2: in dbSNP:rs10152546</li>									rs10152546	2
Q9BV38	57418		<li>A->T at 172: in dbSNP:rs2158367</li><li>L->F at 213: in dbSNP:rs35068100</li><li>V->I at 264: in dbSNP:rs11538683</li>									<li>rs35068100</li><li>rs2158367</li><li>rs11538683</li>	2
Q9BV44	25917		<li>R->Q at 459: in dbSNP:rs1129174</li>									rs1129174	2
Q9BV73	11190		<li>Q->H at 995: in dbSNP:rs2296403</li><li>Q->E at 1072: in dbSNP:rs17092706</li><li>R->Q at 1441: in dbSNP:rs3748433</li>									<li>rs17092706</li><li>rs2296403</li><li>rs3748433</li>	2
Q9BV79			<li>L->F at 96: in dbSNP:rs1128400</li>									rs1128400	2
Q9BV87	27013		<li>T->I at 262: in dbSNP:rs1043160</li><li>P->L at 292: in dbSNP:rs1127102</li><li>P->L at 366: in dbSNP:rs17655123</li><li>P->L at 383: in dbSNP:rs4674361</li>									<li>rs4674361</li><li>rs17655123</li><li>rs1043160</li><li>rs1127102</li>	2
Q9BV94	55741		<li>A->T at 456: in dbSNP rsrs3746429</li>									rs3746429	2
Q9BV99	65999		<li>N->S at 143: in dbSNP:rs3735169</li>									rs3735169	2
Q9BVC3	79075		<li>H->R at 376: in dbSNP:rs1055130</li>									rs1055130	2
Q9BVC5	79074		<li>G->D at 185: in dbSNP:rs28930676</li>									rs28930676	2
Q9BVG8	3801		<li>G->V at 391: in dbSNP:rs17854089</li>									rs17854089	2
Q9BVI0	51230		<li>V->M at 605: in dbSNP:rs17431878</li>									rs17431878	2
Q9BVJ6	10813		<li>V->A at 487: in dbSNP:rs2281278</li>									rs2281278	2
Q9BVJ7	54935		<li>E->V at 124: in dbSNP:rs11544443</li><li>G->S at 131: in dbSNP:rs1129923</li>									<li>rs1129923</li><li>rs11544443</li>	2
Q9BVK2	79053		<li>T->P at 47: in CDG1H, MIM: 608104</li><li>N->S at 222: in dbSNP:rs665278, MIM: 608104</li><li>G->D at 275: in CDG1H, MIM: 608104</li><li>I->T at 439: in dbSNP:rs17825668, MIM: 608104</li>								Congenital disorder of glycosylation type 1H (CDG1H) [MIM:608104]	<li>rs17825668</li><li>rs665278</li>	2
Q9BVK8	10430		<li>Y->H at 132: in dbSNP:rs1269215</li>									rs1269215	2
Q9BVL2	9818		<li>A->T at 34: in dbSNP:rs12871898</li><li>S->P at 166: in dbSNP:rs12871608</li>									<li>rs12871608</li><li>rs12871898</li>	2
Q9BVM2	25911		<li>S->R at 56</li><li>L->S at 156: in dbSNP:rs7006</li>									rs7006	2
Q9BVP2	26354		<li>R->Q at 39: in dbSNP:rs11177</li><li>V->M at 367: in dbSNP:rs2289247</li>									<li>rs11177</li><li>rs2289247</li>	2
Q9BVQ7	79029		<li>R->P at 119: in dbSNP:rs1153850</li><li>N->D at 592: in dbSNP:rs16943025</li>									<li>rs1153850</li><li>rs16943025</li>	2
Q9BVR0			<li>L->P at 759: in dbSNP:rs17134681</li><li>R->I at 1119: in dbSNP:rs4931826</li>									<li>rs4931826</li><li>rs17134681</li>	2
Q9BVS4	55781		<li>S->C at 96: in dbSNP rsrs2544773</li><li>H->R at 144: in dbSNP rsrs35165987</li><li>H->Y at 144: in dbSNP:rs17849382</li><li>R->H at 155: in dbSNP rsrs34916955</li><li>V->I at 175: in dbSNP rsrs35713904</li><li>I->T at 216: in a renal clear cell carcinoma sample; somatic mutation</li><li>M->V at 244: in dbSNP rsrs33996030</li><li>G->R at 349: in dbSNP:rs160632</li><li>N->S at 397: in dbSNP:rs12188395</li><li>E->D at 409: in dbSNP rsrs35829000</li><li>R->H at 507: in dbSNP rsrs34555783</li>									<li>rs12188395</li><li>rs35829000</li><li>rs33996030</li><li>rs34555783</li><li>rs160632</li><li>rs35165987</li><li>rs2544773</li><li>rs17849382</li><li>rs35713904</li><li>rs34916955</li>	2
Q9BVV7	29090		<li>G->S at 79: in dbSNP:rs3737512</li>									rs3737512	2
Q9BVW5	54962		<li>P->R at 53: in dbSNP:rs9806123</li><li>A->G at 111: in dbSNP:rs2063690</li><li>L->P at 260: in dbSNP:rs3759787</li><li>A->S at 267: in dbSNP:rs3759786</li><li>N->S at 270</li>									<li>rs3759786</li><li>rs2063690</li><li>rs3759787</li><li>rs9806123</li>	2
Q9BVX2	79022		<li>V->F at 103: in dbSNP:rs35000511</li><li>S->F at 175: in dbSNP:rs2286025</li>									<li>rs2286025</li><li>rs35000511</li>	2
Q9BW04	79098		<li>P->S at 87: in dbSNP:rs706846</li><li>T->A at 107: in dbSNP:rs35299018</li><li>N->T at 157: in dbSNP:rs34660159</li><li>R->G at 258: in dbSNP:rs12062114</li><li>N->S at 434: in dbSNP:rs35267170</li><li>P->S at 444: in dbSNP:rs2842726</li><li>F->S at 514: in dbSNP:rs11799966</li>									<li>rs35267170</li><li>rs11799966</li><li>rs34660159</li><li>rs706846</li><li>rs35299018</li><li>rs12062114</li><li>rs2842726</li>	2
Q9BW11	83463		<li>Q->H at 114: in dbSNP:rs35691394</li>									rs35691394	2
Q9BW19	3833		<li>R->Q at 219</li>										2
Q9BW66	51550		<li>R->H at 164: in dbSNP:rs7011</li><li>D->N at 177: in a colorectal cancer sample; somatic mutation</li>									rs7011	2
Q9BW71	8479		<li>A->V at 496: in dbSNP:rs35431046</li><li>G->W at 521: in dbSNP:rs11643314</li>									<li>rs11643314</li><li>rs35431046</li>	2
Q9BWD1	39		<li>K->R at 211: in dbSNP:rs25683</li>									rs25683	2
Q9BWE0	29803		<li>L->P at 14: in dbSNP:rs3735165</li><li>G->R at 49: in dbSNP:rs35090619</li><li>P->S at 88: in dbSNP:rs11553624</li><li>R->H at 92: in dbSNP:rs17173702</li><li>A->V at 97: in dbSNP:rs17173703</li>									<li>rs35090619</li><li>rs3735165</li><li>rs17173702</li><li>rs17173703</li><li>rs11553624</li>	2
Q9BWH6	26015		<li>R->Q at 525: in a colorectal cancer sample; somatic mutation</li>										2
Q9BWK5	78996		<li>P->L at 82: in a colorectal cancer sample; somatic mutation</li>										2
Q9BWN1	78994		<li>P->L at 359: in dbSNP:rs3747481</li>									rs3747481	2
Q9BWP8	78989		<li>H->R at 219: in dbSNP:rs7567833</li>									rs7567833	2
Q9BWS9	66005		<li>R->Q at 331: in dbSNP:rs1127800</li><li>A->V at 338: in dbSNP:rs6682</li>									<li>rs6682</li><li>rs1127800</li>	2
Q9BWT7	29775		<li>R->Q at 289: in dbSNP:rs9610775</li>									rs9610775	2
Q9BWU0	22950		<li>P->T at 139: in dbSNP:rs9678851</li><li>R->C at 181: in dbSNP:rs9679004</li>									<li>rs9678851</li><li>rs9679004</li>	2
Q9BWV1	91653		<li>V->M at 713: in a breast cancer sample; somatic mutation</li><li>K->N at 883: in dbSNP:rs35536878</li><li>Q->H at 915: in dbSNP:rs3814405</li>									<li>rs3814405</li><li>rs35536878</li>	2
Q9BWV2	83890		<li>K->E at 209: in dbSNP:rs34297786</li>									rs34297786	2
Q9BWV7			<li>G->R at 3: in dbSNP:rs12526094</li><li>T->A at 127: in dbSNP:rs11540664</li><li>L->P at 202: in dbSNP:rs6936639</li><li>G->R at 425: in dbSNP:rs909545</li><li>G->S at 445: in dbSNP:rs9457304</li><li>Q->H at 529: in dbSNP:rs12528714</li>									<li>rs12528714</li><li>rs9457304</li><li>rs909545</li><li>rs12526094</li><li>rs6936639</li><li>rs11540664</li>	2
Q9BWW7	83482		<li>S->A at 133: in dbSNP:rs7013127</li>									rs7013127	2
Q9BWW8	80830		<li>N->K at 173: in dbSNP:rs5999923</li>									rs5999923	2
Q9BWW9	80831		<li>E->K at 37: in dbSNP:rs5999985</li><li>E->K at 81: in dbSNP:rs5999985</li><li>T->M at 272: in dbSNP:rs2076671</li><li>T->M at 323: in dbSNP:rs2076672</li><li>S->C at 406: in dbSNP:rs2076673</li>									<li>rs5999985</li><li>rs2076671</li><li>rs2076672</li><li>rs2076673</li>	2
Q9BWX1	51533		<li>K->N at 369: in a breast cancer sample; somatic mutation</li>										2
Q9BX26	10388		<li>T->K at 353: in dbSNP:rs13039338</li><li>P->L at 523: in dbSNP:rs1359836</li><li>T->I at 751: in dbSNP:rs6071006</li><li>V->A at 1155: in dbSNP:rs6128714</li>									<li>rs6071006</li><li>rs1359836</li><li>rs6128714</li><li>rs13039338</li>	2
Q9BX59	55080		<li>G->R at 151: in dbSNP:rs7295376</li>									rs7295376	2
Q9BX66	10580		<li>P->L at 61: in dbSNP:rs943542</li><li>R->W at 74</li><li>G->V at 175: in dbSNP:rs7081076</li><li>T->A at 195: in a breast cancer sample; somatic mutation</li><li>T->A at 237: has a protective role in both obesity and diabetes; dbSNP:rs2281939</li><li>Y->C at 485: in dbSNP:rs35808802</li>									<li>rs943542</li><li>rs2281939</li><li>rs35808802</li><li>rs7081076</li>	2
Q9BX69	84674		<li>S->L at 86: in dbSNP:rs10512747</li><li>R->K at 93: in dbSNP:rs7715491</li><li>M->K at 395: in dbSNP:rs3812030</li><li>D->V at 426: in dbSNP:rs3812031</li><li>A->D at 575: in dbSNP:rs36085996</li><li>I->V at 576: in dbSNP:rs323562</li>									<li>rs323562</li><li>rs10512747</li><li>rs36085996</li><li>rs3812030</li><li>rs3812031</li><li>rs7715491</li>	2
Q9BX79	64220		<li>P->L at 90: in MCOPS9, MIM: 601186</li><li>P->L at 293: in MCOPS9, MIM: 601186</li><li>T->P at 321: in MCOPS9, MIM: 601186</li><li>G->S at 339: in dbSNP:rs17852249, MIM: 601186</li><li>L->F at 517: in dbSNP:rs11545567, MIM: 601186</li><li>M->I at 527: in dbSNP:rs736118, MIM: 601186</li><li>T->M at 644: in MCOPS9, MIM: 601186</li><li>R->C at 655: in MCOPS9, MIM: 601186</li>								Microphthalmia syndromic type 9 (MCOPS9) [MIM:601186]	<li>rs11545567</li><li>rs736118</li><li>rs17852249</li>	2
Q9BX82	57573		<li>M->I at 192: in dbSNP:rs11667052</li><li>F->C at 361: in a colorectal cancer sample; somatic mutation</li><li>G->D at 406: in dbSNP:rs3752176</li><li>S->C at 556: in dbSNP:rs16987303</li>									<li>rs3752176</li><li>rs16987303</li><li>rs11667052</li>	2
Q9BX84	140803		<li>G->V at 75: in a lung adenocarcinoma sample; somatic mutation</li><li>S->L at 141: in HOMG1; impairs heterodimer formation resulting in intracellular retention, MIM: 602014</li><li>M->I at 338: in dbSNP rsrs56155062, MIM: 602014</li><li>F->L at 948: in dbSNP:rs13290391, MIM: 602014</li><li>W->C at 1007: in a lung large cell carcinoma sample; somatic mutation, MIM: 602014</li><li>N->D at 1071: in dbSNP:rs2274922, MIM: 602014</li><li>H->R at 1243: in dbSNP rsrs55694430, MIM: 602014</li><li>Q->R at 1274: in dbSNP:rs34608911, MIM: 602014</li><li>V->I at 1393: in dbSNP:rs3750425, MIM: 602014</li><li>K->E at 1584: in dbSNP:rs2274924, MIM: 602014</li><li>Q->R at 1663: in dbSNP rsrs55679040, MIM: 602014</li><li>L->S at 1673: in dbSNP rsrs56254742, MIM: 602014</li><li>T->I at 1724: in dbSNP rsrs56290308, MIM: 602014</li>					intracellular	GO:0005622		Hypomagnesemia type 1 (HOMG1) [MIM:602014]	<li>rs34608911</li><li>rs2274924</li><li>rs13290391</li><li>rs2274922</li><li>rs56290308</li><li>rs56254742</li><li>rs3750425</li><li>rs55679040</li><li>rs55694430</li><li>rs56155062</li>	2
Q9BXA9			<li>R->H at 143: in a colorectal cancer sample; somatic mutation</li><li>V->L at 593</li>										2
Q9BXB1	55366		<li>S->G at 215: in dbSNP:rs2448010</li><li>N->S at 233: in dbSNP:rs2472617</li><li>A->V at 480: in dbSNP:rs12284579</li><li>R->G at 684: in dbSNP:rs7125959</li><li>T->M at 709: in dbSNP:rs34717439</li><li>D->G at 844: in dbSNP:rs34804482</li>									<li>rs2448010</li><li>rs7125959</li><li>rs34717439</li><li>rs12284579</li><li>rs34804482</li><li>rs2472617</li>	2
Q9BXB4	114885		<li>S->L at 184: in a breast cancer sample; somatic mutation</li>										2
Q9BXB5	114884		<li>N->D at 254: in dbSNP:rs2290532</li>									rs2290532	2
Q9BXB7	83893		<li>N->S at 50: in dbSNP:rs16846624</li><li>E->K at 78: in dbSNP:rs1515441</li><li>E->G at 90: in dbSNP:rs11558933</li><li>M->V at 133: in dbSNP:rs1515442</li><li>G->E at 147: in dbSNP:rs16846616</li><li>R->Q at 283: in globozoospermia, MIM: 609856</li><li>V->M at 286, MIM: 609856</li><li>V->M at 423, MIM: 609856</li><li>A->V at 509, MIM: 609856</li><li>M->T at 526, MIM: 609856</li><li>Q->R at 564, MIM: 609856</li>								Globozoospermia [MIM:609856]	<li>rs16846616</li><li>rs16846624</li><li>rs1515442</li><li>rs11558933</li><li>rs1515441</li>	2
Q9BXC0	27198		<li>H->Q at 43: in dbSNP rsrs35292336</li><li>D->E at 253</li>									rs35292336	2
Q9BXC1	84636		<li>S->P at 162: in dbSNP:rs3827440</li>									rs3827440	2
Q9BXC9	583		<li>R->P at 23: in BBS2, MIM: 209900</li><li>N->S at 70: in BBS2; dbSNP:rs4784677, MIM: 209900</li><li>V->G at 75: in BBS2; in linkage disequilibrium with V-123 in a Bedouin kindred, MIM: 209900</li><li>D->A at 104: in BBS2, MIM: 209900</li><li>A->V at 122: in dbSNP:rs17856449, MIM: 209900</li><li>I->V at 123: polymorphism in linkage disequilibrium with G-75 in a Bedouin kindred; dbSNP:rs11373, MIM: 209900</li><li>D->E at 174: in BBS2, MIM: 209900</li><li>R->Q at 315: in BBS2, MIM: 209900</li><li>R->W at 315: in BBS2, MIM: 209900</li><li>L->W at 349: in BBS2; has a modifier effect on BBS, MIM: 209900</li><li>A->V at 504: in dbSNP:rs16957538, MIM: 209900</li><li>T->I at 558: in BBS2, MIM: 209900</li><li>R->P at 632: in BBS2, MIM: 209900</li><li>R->H at 643: in BBS2, MIM: 209900</li>							Q9BXC9	Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]	<li>rs4784677</li><li>rs11373</li><li>rs17856449</li><li>rs16957538</li>	2
Q9BXF3	27443		<li>R->H at 293: in dbSNP:rs5747211</li><li>P->L at 632: in dbSNP:rs1296794</li><li>P->L at 674: in dbSNP:rs1296794</li>									<li>rs1296794</li><li>rs5747211</li>	2
Q9BXF9	64518		<li>R->H at 3: in dbSNP:rs7226363</li><li>G->A at 282: in dbSNP:rs230898</li><li>V->A at 296: in dbSNP:rs6502446</li><li>E->D at 410: in dbSNP:rs35855709</li>									<li>rs230898</li><li>rs6502446</li><li>rs35855709</li><li>rs7226363</li>	2
Q9BXG8	84654		<li>V->L at 17: in dbSNP:rs1862136</li><li>E->K at 302: in dbSNP:rs6867419</li>									<li>rs6867419</li><li>rs1862136</li>	2
Q9BXI2	83884		<li>G->C at 159: in dbSNP:rs10075302</li><li>V->G at 181: in dbSNP:rs3749779</li><li>V->I at 226: in dbSNP:rs3749780</li>									<li>rs10075302</li><li>rs3749780</li><li>rs3749779</li>	2
Q9BXI9	114904		<li>G->V at 2: in dbSNP:rs229527</li><li>P->R at 23: in dbSNP:rs229526</li><li>G->D at 36: in dbSNP:rs7290488</li><li>P->L at 119: in dbSNP:rs17812699</li><li>R->H at 207: in dbSNP:rs17812681</li>									<li>rs17812681</li><li>rs7290488</li><li>rs229526</li><li>rs229527</li><li>rs17812699</li>	2
Q9BXJ0	114902		<li>Q->R at 44: in dbSNP:rs11538245</li><li>S->R at 163: in LORD, MIM: 605670</li>								Late-onset retinal degeneration (LORD) [MIM:605670]	rs11538245	2
Q9BXJ7	81693		<li>T->I at 41: in MGA1: in dbSNP rsrs28939377, MIM: 261100</li>							P53050	Recessive hereditary megaloblastic anemia 1 (MGA1) [MIM:261100]	rs28939377	2
Q9BXJ8	83862		<li>Q->R at 86: in dbSNP:rs17852664</li><li>T->A at 201: in dbSNP:rs17855697</li>									<li>rs17852664</li><li>rs17855697</li>	2
Q9BXK5	23786		<li>I->V at 55: in dbSNP:rs16981016</li><li>P->S at 360: in dbSNP:rs9306198</li>									<li>rs16981016</li><li>rs9306198</li>	2
Q9BXL6	79092		<li>R->S at 547: in dbSNP:rs2066964</li><li>V->I at 585: in dbSNP:rs34367357</li><li>R->H at 883: in dbSNP:rs2289541</li>									<li>rs34367357</li><li>rs2066964</li><li>rs2289541</li>	2
Q9BXL7	84433		<li>T->M at 670: in dbSNP:rs3735134</li><li>S->L at 694: in dbSNP:rs3735133</li>									<li>rs3735134</li><li>rs3735133</li>	2
Q9BXM0	57716		<li>A->T at 406</li><li>E->Q at 495</li><li>V->A at 882: in dbSNP:rs268671</li><li>I->M at 921: in dbSNP:rs268673</li><li>K->E at 935</li><li>P->R at 1083: in dbSNP:rs3745202</li><li>R->G at 1132: in dbSNP:rs268674</li><li>E->K at 1259</li><li>Missing at 1359</li><li>R->C at 1411</li>									<li>rs3745202</li><li>rs268674</li><li>rs268671</li><li>rs268673</li>	2
Q9BXM7	65018		<li>L->F at 67: could be associated with PD susceptibility</li><li>R->P at 68: could be associated with PD susceptibility</li><li>C->F at 92: in PARK6, MIM: 605909</li><li>R->W at 98: could be associated with PD susceptibility, MIM: 605909</li><li>I->S at 111: could be associated with PD susceptibility, MIM: 605909</li><li>Q->L at 115, MIM: 605909</li><li>A->V at 124: could be associated with PD susceptibility, MIM: 605909</li><li>T->M at 145: could be associated with PD susceptibility; dbSNP:rs45604240, MIM: 605909</li><li>R->H at 147: in PARK6; uncertain pathogenicity, MIM: 605909</li><li>L->W at 148: in dbSNP:rs56297806, MIM: 605909</li><li>A->P at 168: in PARK6, MIM: 605909</li><li>K->N at 186: could be associated with PD susceptibility, MIM: 605909</li><li>P->L at 196: in PARK6, MIM: 605909</li><li>P->S at 196: in dbSNP:rs35802484, MIM: 605909</li><li>P->L at 209: in dbSNP:rs34677717, MIM: 605909</li><li>P->L at 215: in a glioblastoma multiforme sample; somatic mutation, MIM: 605909</li><li>A->D at 217: in PARK6, MIM: 605909</li><li>E->G at 231: could be associated with PD susceptibility, MIM: 605909</li><li>N->I at 235, MIM: 605909</li><li>E->K at 240: in PARK6, MIM: 605909</li><li>T->I at 257: could be associated with PD susceptibility, MIM: 605909</li><li>R->G at 263, MIM: 605909</li><li>L->V at 268: in PARK6, MIM: 605909</li><li>H->Q at 271: in PARK6: in dbSNP rsrs28940284, MIM: 605909</li><li>R->Q at 276: could be associated with PD susceptibility, MIM: 605909</li><li>R->H at 279: in PARK6, MIM: 605909</li><li>P->L at 296: could be associated with PD susceptibility, MIM: 605909</li><li>P->L at 305: in dbSNP:rs7349186, MIM: 605909</li><li>G->D at 309: in PARK6; fails to maintain mitochondrial membrane potential and protect against apoptosis following induction of stress, MIM: 605909</li><li>T->M at 313: in PARK6, MIM: 605909</li><li>V->I at 317: could be associated with PD susceptibility, MIM: 605909</li><li>M->L at 318, MIM: 605909</li><li>P->L at 322: could be associated with PD susceptibility, MIM: 605909</li><li>A->T at 339: could be associated with PD susceptibility; dbSNP:rs55831733, MIM: 605909</li><li>A->T at 340: in dbSNP:rs3738136, MIM: 605909</li><li>M->I at 341: in dbSNP:rs35813094, MIM: 605909</li><li>L->P at 347: in PARK6: in dbSNP rsrs28940285, MIM: 605909</li><li>D->H at 362, MIM: 605909</li><li>C->F at 377: in dbSNP:rs34203620, MIM: 605909</li><li>A->T at 383: could be associated with PD susceptibility; dbSNP:rs45515602, MIM: 605909</li><li>C->R at 388: in PARK6, MIM: 605909</li><li>G->V at 395: could be associated with PD susceptibility, MIM: 605909</li><li>G->S at 411: in dbSNP:rs45478900, MIM: 605909</li><li>E->G at 417: in PARK6, MIM: 605909</li><li>P->S at 425: could be associated with PD susceptibility, MIM: 605909</li><li>Y->H at 431: could be associated with PARK6 susceptibility; shows decreased mitochondrial membrane potential under stress conditions, MIM: 605909</li><li>I->T at 442: could be associated with PD susceptibility, MIM: 605909</li><li>N->S at 451: could be associated with PARK6 susceptibility; shows decreased mitochondrial membrane potential under stress conditions, MIM: 605909</li><li>L->S at 461, MIM: 605909</li><li>R->H at 464: in PARK6, MIM: 605909</li><li>E->K at 476: could be associated with PD susceptibility; shows decreased mitochondrial membrane potential under stress conditions, MIM: 605909</li><li>S->T at 477: in dbSNP:rs34416410, MIM: 605909</li><li>L->P at 489: in PARK6, MIM: 605909</li><li>R->P at 501: could be associated with PARK6 susceptibility; shows decreased mitochondrial membrane potential under stress conditions, MIM: 605909</li><li>N->T at 521: in dbSNP:rs1043424, MIM: 605909</li><li>D->N at 525: could be associated with PD susceptibility, MIM: 605909</li><li>Q->QQ at 534: in PARK6, MIM: 605909</li><li>A->T at 537: could be associated with PD susceptibility, MIM: 605909</li><li>C->R at 575: could be associated with PARK6 susceptibility; shows decreased mitochondrial membrane potential under stress conditions, MIM: 605909</li>	apoptosis	GO:0006915			mitochondrial membrane	GO:0005740		Autosomal recessive early-onset Parkinson disease 6 (PARK6) [MIM:605909, 168600]	<li>rs34677717</li><li>rs28940285</li><li>rs28940284</li><li>rs35802484</li><li>rs45478900</li><li>rs3738136</li><li>rs35813094</li><li>rs45604240</li><li>rs55831733</li><li>rs56297806</li><li>rs1043424</li><li>rs7349186</li><li>rs34203620</li><li>rs34416410</li><li>rs45515602</li>	2
Q9BXN2	64581		<li>I->S at 223: in dbSNP:rs16910527</li>									rs16910527	2
Q9BXN6	64648		<li>V->L at 68: in dbSNP:rs5953618</li>									rs5953618	2
Q9BXR5	81793		<li>A->S at 163: in dbSNP:rs11466649</li><li>L->P at 167: in dbSNP:rs11466650</li><li>N->H at 241: in dbSNP:rs11096957</li><li>V->I at 298: in dbSNP:rs11466651</li><li>M->T at 326: in dbSNP:rs11466653</li><li>I->L at 369: in dbSNP:rs11096955</li><li>G->D at 381: in dbSNP:rs11466655</li><li>R->G at 469: in dbSNP:rs11466656</li><li>I->T at 473: in dbSNP:rs11466657</li><li>R->W at 525: in dbSNP:rs11466658</li><li>Y->C at 736: in dbSNP:rs11466660</li><li>I->L at 775: in dbSNP:rs4129009</li><li>R->Q at 799: in dbSNP:rs4129008</li>									<li>rs11466658</li><li>rs11466656</li><li>rs11466657</li><li>rs11466655</li><li>rs11466653</li><li>rs11466649</li><li>rs4129009</li><li>rs4129008</li><li>rs11096957</li><li>rs11096955</li><li>rs11466660</li><li>rs11466651</li><li>rs11466650</li>	2
Q9BXR6	81494		<li>P->S at 46: in dbSNP:rs12097550</li><li>N->S at 216: in a breast cancer sample; somatic mutation</li><li>R->H at 356: in dbSNP:rs35662416</li><li>L->I at 521: in dbSNP:rs35957013</li><li>L->R at 529: in dbSNP:rs16840956</li>									<li>rs16840956</li><li>rs35957013</li><li>rs35662416</li><li>rs12097550</li>	2
Q9BXS5	8907		<li>R->Q at 303: in a breast cancer sample; somatic mutation</li>										2
Q9BXS9	65010		<li>V->M at 206: in dbSNP:rs13324142</li>									rs13324142	2
Q9BXT6	54456		<li>M->L at 57: in dbSNP:rs9617066</li><li>R->C at 182: in dbSNP:rs3810971</li><li>I->L at 454: in dbSNP:rs760749</li><li>V->I at 650: in dbSNP:rs2340601</li><li>S->G at 683: in dbSNP:rs3736689</li><li>Q->R at 820: in dbSNP:rs2272837</li><li>A->E at 1179: in dbSNP:rs2272843</li>									<li>rs3736689</li><li>rs2272843</li><li>rs2340601</li><li>rs2272837</li><li>rs9617066</li><li>rs760749</li><li>rs3810971</li>	2
Q9BXT8	56163		<li>K->N at 346: in dbSNP:rs1451568</li><li>G->S at 467: in dbSNP:rs9581180</li><li>S->G at 501: in dbSNP:rs9507413</li><li>A->P at 573: in dbSNP:rs10161760</li><li>H->R at 667: in dbSNP:rs9511451</li><li>N->K at 1110: in dbSNP:rs3783082</li><li>E->K at 1380: in dbSNP:rs9507425</li>									<li>rs9507425</li><li>rs10161760</li><li>rs1451568</li><li>rs9511451</li><li>rs9581180</li><li>rs3783082</li><li>rs9507413</li>	2
Q9BXU1	56164		<li>Q->H at 71: in dbSNP:rs6945306</li><li>S->F at 125: in dbSNP rsrs56268851</li><li>E->K at 261: in dbSNP:rs10264952</li><li>K->N at 268: in dbSNP:rs10264967</li><li>I->K at 277: in dbSNP rsrs55950645</li><li>T->P at 362: in dbSNP:rs35545265</li><li>R->C at 385: in dbSNP:rs35995607</li><li>A->T at 393: in dbSNP rsrs56244148</li><li>G->E at 410: in dbSNP:rs4722266</li><li>A->P at 489: in dbSNP:rs34414354</li><li>A->T at 600: in dbSNP rsrs55796076</li><li>N->K at 621: in dbSNP:rs10263079</li><li>S->I at 623: in dbSNP:rs10247878</li><li>H->R at 684: in dbSNP rsrs41273999</li><li>H->Y at 684: in a lung neuroendocrine carcinoma sample; somatic mutation</li><li>E->K at 709: in dbSNP rsrs56181834</li><li>V->L at 860: in a lung small cell carcinoma sample; somatic mutation</li><li>T->M at 1000: in dbSNP rsrs55794023</li><li>K->T at 1009: in dbSNP:rs33998018</li><li>T->S at 1010: in dbSNP rsrs56391043</li>									<li>rs55794023</li><li>rs56268851</li><li>rs33998018</li><li>rs10263079</li><li>rs35545265</li><li>rs56391043</li><li>rs6945306</li><li>rs10264952</li><li>rs41273999</li><li>rs34414354</li><li>rs55796076</li><li>rs55950645</li><li>rs56181834</li><li>rs10247878</li><li>rs4722266</li><li>rs56244148</li><li>rs10264967</li><li>rs35995607</li>	2
Q9BXU8	53940		<li>Q->H at 120: in dbSNP:rs16989319</li><li>Y->H at 138: in dbSNP:rs17340519</li>									<li>rs17340519</li><li>rs16989319</li>	2
Q9BXW6	114876		<li>S->P at 810: in dbSNP:rs35693789</li>									rs35693789	2
Q9BXW7	27440		<li>T->M at 179: in dbSNP:rs35665085</li><li>R->S at 369: in dbSNP:rs16982020</li><li>R->C at 416: in dbSNP:rs35327402</li>									<li>rs35327402</li><li>rs35665085</li><li>rs16982020</li>	2
Q9BXX2			<li>V->M at 375: in dbSNP:rs9748611</li><li>F->L at 477: in dbSNP:rs9675365</li>									<li>rs9748611</li><li>rs9675365</li>	2
Q9BXX3	91074		<li>Q->E at 227: in a breast cancer sample; somatic mutation</li><li>T->A at 611: in dbSNP:rs16937417</li><li>K->N at 917: in dbSNP:rs1209750</li>									<li>rs1209750</li><li>rs16937417</li>	2
Q9BXY0	84549		<li>Q->R at 277: in dbSNP:rs6468171</li>									rs6468171	2
Q9BY07	57835		<li>S->N at 251: in dbSNP:rs17009792</li>									rs17009792	2
Q9BY10	57864		<li>A->V at 366: in dnSNP:16917454: in dbSNP rsrs16917454</li>									rs16917454	2
Q9BY11	29993		<li>A->V at 334: in dbSNP:rs41312309</li>									rs41312309	2
Q9BY15	84658		<li>E->Q at 127: in dbSNP:rs4606855</li>									rs4606855	2
Q9BY19	83661		<li>V->L at 95: in dbSNP:rs35956659</li>									rs35956659	2
Q9BY21	53836		<li>D->Y at 191: in a colorectal cancer sample; somatic mutation</li>										2
Q9BY32	3704		<li>P->T at 32: in ITPA deficiency; complete loss of enzymatic activity at homozygosity; partial loss of activity without ITP accumulation in heterozygous individuals; dbSNP:rs1127354, MIM: 147520</li>							<li>Q9BY32</li><li>Q26491</li>	Inosine triphosphate pyrophosphohydrolase deficiency (ITPA deficiency) [MIM:147520]	rs1127354	2
Q9BY42	51507		<li>T->A at 159: in dbSNP:rs6024909</li><li>V->M at 171: in dbSNP:rs1059768</li>									<li>rs1059768</li><li>rs6024909</li>	2
Q9BY43	29082	<ul><li>Missing at 182-222: Membrane association; releases autoinhibition</li><li>E->A at 209: Reduces interaction with PDCD6IP</li><li>L->A at 214: Abolisheses interaction with PDCD6IP</li><li>L->A at 217: Abolisheses interaction with PDCD6IP</li><li>W->A at 220: Abolisheses interaction with PDCD6IP</li></ul>	<li>G->R at 153: in dbSNP:rs2295322</li>					Membrane	GO:0016020	Q8WUM4		rs2295322	3
Q9BY44	83939		<li>T->S at 97: in dbSNP:rs1132979</li><li>E->K at 582: in dbSNP:rs17850813</li>									<li>rs1132979</li><li>rs17850813</li>	2
Q9BY76	51129		<li>P->L at 5</li><li>E->K at 40: associated with lower plasma levels of triglyceride and higher levels of HDL cholesterol</li><li>M->I at 41</li><li>S->R at 67</li><li>R->L at 72</li><li>G->R at 77</li><li>E->K at 167</li><li>P->S at 174</li><li>E->Q at 190</li><li>E->K at 196</li><li>R->C at 230</li><li>G->R at 233</li><li>F->V at 237</li><li>P->T at 251</li><li>T->M at 266: in dbSNP:rs1044250</li><li>R->Q at 278: in dbSNP:rs35061979</li><li>V->M at 291</li><li>L->M at 293</li><li>E->V at 296</li><li>P->S at 307</li><li>V->M at 308</li><li>R->C at 336</li><li>D->E at 338</li><li>W->C at 349</li><li>G->R at 361</li><li>G->S at 361</li><li>R->Q at 371</li><li>R->W at 384</li>									<li>rs35061979</li><li>rs1044250</li>	2
Q9BY79	83552		<li>R->G at 54</li><li>I->V at 119: in dbSNP:rs4639950</li><li>V->M at 136: in dbSNP:rs3814762</li><li>I->T at 182: in NNO2, MIM: 609549</li><li>G->S at 449, MIM: 609549</li><li>Q->H at 514, MIM: 609549</li>								Nanophthalmos 2 (NNO2) [MIM:609549]	<li>rs3814762</li><li>rs4639950</li>	2
Q9BY84	80824		<li>T->M at 23: in dbSNP:rs36049447</li><li>V->M at 366: in dbSNP:rs3809199</li>									<li>rs36049447</li><li>rs3809199</li>	2
Q9BYB0			<li>R->C at 12</li><li>A->G at 198</li><li>A->T at 224</li><li>I->T at 245: in dbSNP:rs9616915</li><li>R->C at 300</li>									rs9616915	2
Q9BYB4	54584		<li>E->K at 30: in dbSNP:rs35178436</li><li>R->H at 37: in dbSNP:rs5748449</li><li>W->G at 239: in dbSNP:rs2073770</li><li>A->T at 296: in a breast cancer sample; somatic mutation</li>									<li>rs5748449</li><li>rs35178436</li><li>rs2073770</li>	2
Q9BYD2	65005		<li>E->G at 67: in dbSNP:rs7007</li><li>E->A at 210: in dbSNP:rs8480</li>									<li>rs8480</li><li>rs7007</li>	2
Q9BYD6	65008		<li>T->K at 25: in dbSNP:rs17851275</li><li>F->S at 155: in dbSNP:rs17855456</li>									<li>rs17851275</li><li>rs17855456</li>	2
Q9BYE3	84648		<li>G->V at 43: in dbSNP:rs512208</li>									rs512208	2
Q9BYE9	54825		<li>Q->H at 107: in dbSNP:rs6886860</li><li>A->G at 415: in dbSNP:rs3762960</li><li>V->A at 424: in dbSNP:rs11134982</li><li>L->P at 766: in dbSNP:rs752138</li><li>T->M at 901: in dbSNP:rs35018750</li><li>V->M at 948: in dbSNP:rs3749625</li><li>P->L at 1004: in an acute myeloid leukemia sample; somatic mutation</li><li>T->M at 1128: in dbSNP:rs2291442</li><li>L->M at 1164: in dbSNP:rs17078347</li>									<li>rs3749625</li><li>rs6886860</li><li>rs35018750</li><li>rs752138</li><li>rs2291442</li><li>rs3762960</li><li>rs17078347</li><li>rs11134982</li>	2
Q9BYG7	83876		<li>R->S at 39: in dbSNP:rs4940019</li><li>T->A at 134: in dbSNP:rs2849233</li>									<li>rs2849233</li><li>rs4940019</li>	2
Q9BYG8	56169		<li>P->S at 23: in dbSNP:rs10090835</li><li>R->K at 150: in dbSNP:rs16904151</li><li>T->M at 475: in dbSNP:rs4144738</li>									<li>rs4144738</li><li>rs16904151</li><li>rs10090835</li>	2
Q9BYH1	23544		<li>P->L at 52: in dbSNP:rs6004989</li><li>W->L at 185: in dbSNP:rs137203</li><li>M->I at 430: in dbSNP:rs663048</li><li>Q->H at 671: in dbSNP:rs586542</li>									<li>rs6004989</li><li>rs586542</li><li>rs663048</li><li>rs137203</li>	2
Q9BYH8	64332		<li>T->S at 307: in dbSNP:rs3821727</li>									rs3821727	2
Q9BYI3	84668		<li>L->P at 53: in HCC, MIM: 610532</li>							<li>Q8T115</li><li>Q9NFL6</li>	Hypomyelination with congenital cataract (HCC) [MIM:610532]		2
Q9BYJ0	83888		<li>P->S at 90: in dbSNP:rs758329</li>									rs758329	2
Q9BYJ1	59344		<li>R->S at 396: in NCIE, MIM: 242100</li><li>V->F at 500: in NCIE, MIM: 242100</li>								Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]		2
Q9BYJ4	53840		<li>T->S at 276: in dbSNP:rs6578670</li><li>D->H at 282: in dbSNP:rs3740997</li><li>N->K at 404: in dbSNP:rs16933844</li>									<li>rs3740997</li><li>rs6578670</li><li>rs16933844</li>	2
Q9BYK8	85441		<li>N->S at 788: in dbSNP:rs438363</li><li>R->H at 1123: in dbSNP:rs310632</li><li>S->L at 1152: in dbSNP:rs35817585</li><li>V->L at 1308: in dbSNP:rs310631</li><li>R->K at 1381: in dbSNP:rs3810487</li><li>L->R at 1821: in dbSNP:rs3810486</li><li>T->A at 1889: in dbSNP:rs34980032</li><li>P->L at 2016: in dbSNP:rs3810485</li><li>Q->E at 2049: in dbSNP:rs3810483</li><li>T->M at 2170: in dbSNP:rs3810481</li>									<li>rs35817585</li><li>rs438363</li><li>rs3810487</li><li>rs310631</li><li>rs3810485</li><li>rs3810486</li><li>rs3810483</li><li>rs34980032</li><li>rs3810481</li><li>rs310632</li>	2
Q9BYP7	65267		<li>Q->H at 704: in dbSNP rsrs56077971</li><li>S->C at 854: in a lung squamous cell carcinoma sample; somatic mutation</li><li>A->T at 998: in dbSNP rsrs56404148</li><li>K->E at 1169: in dbSNP rsrs55903619</li><li>T->I at 1328: in dbSNP rsrs55879434</li><li>L->F at 1486: in a lung large cell carcinoma sample; somatic mutation</li><li>S->P at 1577: in a renal clear cell carcinoma sample; somatic mutation</li>									<li>rs55879434</li><li>rs55903619</li><li>rs56077971</li><li>rs56404148</li>	2
Q9BYQ4	83899		<li>P->S at 36: in dbSNP:rs9903833</li><li>C->S at 56: in dbSNP:rs9902235</li>									<li>rs9903833</li><li>rs9902235</li>	2
Q9BYQ7	85285		<li>H->R at 66: in dbSNP:rs2320231</li><li>S->R at 96: in dbSNP:rs35382039</li><li>A->T at 115: in dbSNP:rs398825</li>									<li>rs2320231</li><li>rs398825</li><li>rs35382039</li>	2
Q9BYR3	84616		<li>Y->C at 25: in dbSNP:rs385055</li><li>C->S at 35: in dbSNP:rs444509</li><li>Missing  at 40-99: in allele KAP4.13</li><li>R->S at 154: in dbSNP:rs366700</li>							Q9BYU7		<li>rs444509</li><li>rs366700</li><li>rs385055</li>	2
Q9BYR4	85290		<li>P->S at 122: in dbSNP:rs428371</li><li>P->S at 152: in dbSNP:rs428371</li>									rs428371	2
Q9BYR7	100128819		<li>S->G at 8: in dbSNP:rs9897046</li><li>R->C at 27: in dbSNP:rs3829598</li><li>I->T at 46: in dbSNP:rs3813050</li>									<li>rs9897046</li><li>rs3829598</li><li>rs3813050</li>	2
Q9BYS8	79442		<li>V->A at 32: in dbSNP:rs28687398</li><li>T->A at 83: in dbSNP:rs17286758</li><li>A->E at 145: in dbSNP:rs17078944</li>									<li>rs17078944</li><li>rs28687398</li><li>rs17286758</li>	2
Q9BYT3	65975		<li>E->D at 98: in dbSNP:rs34525052</li><li>L->V at 160: in a lung large cell carcinoma sample; somatic mutation</li><li>D->E at 436: in dbSNP:rs3751096</li><li>A->T at 437: in dbSNP:rs3751095</li><li>A->E at 458: in dbSNP:rs35296353</li>									<li>rs34525052</li><li>rs3751096</li><li>rs35296353</li><li>rs3751095</li>	2
Q9BYT8	57486		<li>S->G at 323: in dbSNP:rs34063558</li><li>K->R at 372: in dbSNP:rs6863012</li><li>S->G at 417: in dbSNP:rs2289884</li><li>P->S at 704: in dbSNP:rs6860508</li>									<li>rs6860508</li><li>rs2289884</li><li>rs6863012</li><li>rs34063558</li>	2
Q9BYU1	80714		<li>T->M at 283: in a colorectal cancer sample; somatic mutation</li>										2
Q9BYV1	64902		<li>S->N at 102: in dbSNP:rs37370</li><li>G->R at 132: in dbSNP:rs16870794</li><li>V->I at 140: in dbSNP:rs37369</li><li>T->I at 212: in dbSNP:rs180749</li><li>P->R at 492: in dbSNP:rs17245714</li><li>V->L at 498: in dbSNP:rs16899974</li>									<li>rs17245714</li><li>rs180749</li><li>rs16870794</li><li>rs37370</li><li>rs37369</li><li>rs16899974</li>	2
Q9BYV6	84675		<li>K->R at 343: in dbSNP:rs7843605</li>									rs7843605	2
Q9BYV7	83875		<li>P->L at 208: in dbSNP:rs10891338</li><li>G->E at 266: in dbSNP:rs17113607</li><li>L->I at 525: in dbSNP:rs2217401</li>									<li>rs2217401</li><li>rs10891338</li><li>rs17113607</li>	2
Q9BYV9	60468		<li>A->T at 418: in dbSNP:rs34335140</li>									rs34335140	2
Q9BYW1	66035		<li>D->N at 60: in dbSNP:rs7292659</li><li>R->Q at 232: in dbSNP:rs9608213</li><li>I->F at 420: in dbSNP:rs34096096</li>									<li>rs7292659</li><li>rs9608213</li><li>rs34096096</li>	2
Q9BYX2	55357		<li>P->T at 241: in dbSNP:rs879368</li><li>L->S at 253: in dbSNP:rs879369</li><li>G->V at 261: in dbSNP:rs1573025</li>									<li>rs1573025</li><li>rs879368</li><li>rs879369</li>	2
Q9BYZ2	92483		<li>V->M at 14: in dbSNP:rs3809530</li><li>P->L at 30: in dbSNP:rs3809529</li><li>P->S at 259: in dbSNP:rs35212259</li><li>I->T at 326: in dbSNP:rs3825937</li>									<li>rs35212259</li><li>rs3809529</li><li>rs3825937</li><li>rs3809530</li>	2
Q9BYZ8	83998		<li>N->H at 135: in dbSNP:rs34996202</li>									rs34996202	2
Q9BZ11	80332		<li>N->S at 109: in dbSNP:rs41467948</li><li>T->A at 178: in dbSNP:rs3918392</li><li>T->M at 272: in dbSNP rsrs41534847</li><li>V->I at 316: in dbSNP rsrs41459049</li><li>P->S at 336: in dbSNP:rs41483049</li><li>A->S at 365: in dbSNP rsrs41419248</li><li>D->E at 441: in dbSNP rsrs41382144</li><li>W->R at 515: in dbSNP:rs615436</li><li>L->H at 612: in dbSNP rsrs41453444</li><li>V->I at 710: in dbSNP rsrs3918396</li><li>C->G at 739: in dbSNP rsrs41434648</li><li>D->Y at 742: in dbSNP rsrs41462450</li><li>M->T at 764: in dbSNP:rs2280091</li><li>P->S at 774: in dbSNP:rs2280090</li>									<li>rs41483049</li><li>rs41382144</li><li>rs2280091</li><li>rs2280090</li><li>rs41467948</li><li>rs3918392</li><li>rs3918396</li><li>rs41453444</li><li>rs41419248</li><li>rs41459049</li><li>rs615436</li><li>rs41434648</li><li>rs41534847</li><li>rs41462450</li>	2
Q9BZ19			<li>R->C at 295: in dbSNP:rs584855</li>									rs584855	2
Q9BZ23	80025		<li>R->P at 94</li><li>L->Q at 111</li><li>G->A at 126: in dbSNP:rs3737084</li><li>G->V at 219: in PKAN; atypical, MIM: 234200</li><li>T->A at 234: in PKAN; atypical, MIM: 234200</li><li>R->W at 264: in PKAN, MIM: 234200</li><li>R->C at 278: in PKAN; atypical, MIM: 234200</li><li>L->V at 282: in PKAN, MIM: 234200</li><li>R->C at 286: in PKAN, MIM: 234200</li><li>T->I at 327: in PKAN, MIM: 234200</li><li>S->P at 351: in PKAN; atypical, MIM: 234200</li><li>N->S at 355: in PKAN; atypical, MIM: 234200</li><li>N->I at 404: in PKAN; atypical, MIM: 234200</li><li>L->P at 413: in PKAN, MIM: 234200</li><li>S->N at 471: in PKAN, MIM: 234200</li><li>I->T at 497: in PKAN, MIM: 234200</li><li>N->I at 500: in PKAN, MIM: 234200</li><li>G->R at 521: in PKAN, MIM: 234200</li><li>T->M at 528: in PKAN, MIM: 234200</li>								Pantothenate kinase-associated neurodegeneration (PKAN) [MIM:234200]	rs3737084	2
Q9BZ29	23348		<li>K->E at 1416: in dbSNP:rs16955934</li>									rs16955934	2
Q9BZ71	83394		<li>A->T at 80: in dbSNP:rs3809835</li><li>Q->H at 626: in CORD5, MIM: 600977</li>								Cone-rod dystrophy type 5 (CORD5) [MIM:600977]	rs3809835	2
Q9BZ72	57605		<li>P->L at 9: in dbSNP:rs17884869</li>									rs17884869	2
Q9BZ76	79937		<li>A->S at 628: in dbSNP:rs1758272</li><li>R->H at 845: in dbSNP:rs7852039</li>									<li>rs7852039</li><li>rs1758272</li>	2
Q9BZ95	54904		<li>R->P at 383: in dbSNP:rs2234552</li>									rs2234552	2
Q9BZA7	27328		<li>D->G at 42: in a colorectal cancer sample; somatic mutation</li><li>R->Q at 1018: in dbSNP:rs4252205</li>									rs4252205	2
Q9BZA8	83259		<li>V->F at 917: in dbSNP:rs2524543</li><li>N->K at 1012: in dbSNP:rs2563389</li><li>A->T at 1320: in dbSNP:rs2556900</li>									<li>rs2556900</li><li>rs2524543</li><li>rs2563389</li>	2
Q9BZC1	56853		<li>G->S at 388: in dbSNP:rs12458669</li>									rs12458669	2
Q9BZC7			<li>H->P at 583: in dbSNP:rs908828</li><li>F->V at 674: in dbSNP:rs2090625</li>									<li>rs908828</li><li>rs2090625</li>	2
Q9BZD2	55315		<li>R->G at 18: in dbSNP:rs2277257</li><li>S->F at 158: in dbSNP:rs780668</li><li>V->I at 239: in dbSNP:rs2252996</li><li>V->I at 326: in dbSNP:rs2487068</li><li>V->E at 452: in dbSNP:rs999940</li>									<li>rs2487068</li><li>rs999940</li><li>rs2277257</li><li>rs780668</li><li>rs2252996</li>	2
Q9BZD3			<li>R->H at 176: in an acute myeloid leukemia sample; somatic mutation</li>										2
Q9BZD4	83540		<li>S->L at 229: in dbSNP:rs11802875</li><li>S->R at 239: in dbSNP:rs16852767</li>									<li>rs16852767</li><li>rs11802875</li>	2
Q9BZD6	79056		<li>E->K at 33: in dbSNP:rs33962176</li><li>C->R at 143: in dbSNP:rs34736080</li><li>P->Q at 176: in dbSNP:rs34139105</li>									<li>rs34736080</li><li>rs34139105</li><li>rs33962176</li>	2
Q9BZD7	79057		<li>N->S at 153: in dbSNP:rs4323608</li>									rs4323608	2
Q9BZE0	84662		<li>T->A at 492: in dbSNP:rs8057701</li>									rs8057701	2
Q9BZE1	51253		<li>L->V at 322: in dbSNP:rs2275408</li><li>C->S at 366: in dbSNP:rs13571</li>									<li>rs2275408</li><li>rs13571</li>	2
Q9BZE2	83480		<li>Y->D at 3: in dbSNP:rs622756</li><li>A->S at 46: in dbSNP:rs549990</li><li>E->D at 460: in dbSNP:rs3088241</li>									<li>rs3088241</li><li>rs622756</li><li>rs549990</li>	2
Q9BZE9	79058		<li>L->Q at 252: in dbSNP:rs8074498</li><li>V->M at 318: in dbSNP:rs34085048</li><li>D->E at 487: in dbSNP:rs13087</li>									<li>rs34085048</li><li>rs13087</li><li>rs8074498</li>	2
Q9BZF2	114881		<li>T->I at 156: in dbSNP:rs35437144</li>									rs35437144	2
Q9BZF3	114880		<li>R->Q at 53: in dbSNP:rs3503292</li><li>P->L at 58: in dbSNP:rs34874235</li>									<li>rs3503292</li><li>rs34874235</li>	2
Q9BZF9	55075		<li>I->T at 814: in dbSNP:rs3743315</li>									rs3743315	2
Q9BZG1	83871		<li>V->L at 197: in dbSNP:rs12125</li>									rs12125	2
Q9BZG8	1801		<li>A->V at 7: in breast and ovarian cancer</li><li>A->D at 34: in breast and ovarian cancer</li><li>L->V at 335: in breast and ovarian cancer; requires 2 nucleotide substitutions</li><li>S->R at 389: in breast and ovarian cancer</li>										2
Q9BZJ0	51340		<li>G->R at 35: in dbSNP:rs7508949</li><li>F->L at 51: in dbSNP:rs2273058</li><li>Q->H at 111: in dbSNP:rs2255258</li><li>T->A at 158: in dbSNP:rs2255255</li><li>V->I at 843: in dbSNP:rs35201190</li>									<li>rs35201190</li><li>rs2255255</li><li>rs2255258</li><li>rs2273058</li><li>rs7508949</li>	2
Q9BZJ3			<li>P->R at 15: in dbSNP:rs3865205</li><li>V->A at 18: in dbSNP:rs1800984</li><li>V->M at 76: in dbSNP:rs3993987</li>									<li>rs1800984</li><li>rs3865205</li><li>rs3993987</li>	2
Q9BZJ4	51629		<li>L->F at 247: in dbSNP:rs2011951</li>									rs2011951	2
Q9BZJ6	81491		<li>V->M at 21: in dbSNP:rs35358396</li>									rs35358396	2
Q9BZL4	54776		<li>R->C at 419: in dbSNP:rs35849605</li>									rs35849605	2
Q9BZL6	25865		<li>V->M at 324: in dbSNP rsrs45455991</li><li>A->V at 496: in dbSNP rsrs55716765</li><li>S->G at 604: in dbSNP rsrs34325043</li><li>W->R at 773: in dbSNP rsrs55933311</li><li>G->E at 848: in a lung adenocarcinoma sample; somatic mutation</li><li>G->E at 870: in a gastric adenocarcinoma sample; somatic mutation</li>									<li>rs45455991</li><li>rs34325043</li><li>rs55933311</li><li>rs55716765</li>	2
Q9BZM3	170825		<li>S->G at 107: in dbSNP:rs13144341</li>									rs13144341	2
Q9BZM6	80329		<li>L->I at 101: in dbSNP:rs6903584</li>									rs6903584	2
Q9BZP6	27159		<li>G->R at 102: in dbSNP:rs3818822</li><li>V->G at 324: in dbSNP:rs2256721</li><li>I->V at 339: in dbSNP:rs2275253</li><li>F->S at 354: in dbSNP:rs2275254</li><li>F->L at 377: in dbSNP:rs36011905</li><li>V->G at 432: in dbSNP:rs2256721</li>									<li>rs2256721</li><li>rs2275253</li><li>rs2275254</li><li>rs36011905</li><li>rs3818822</li>	2
Q9BZQ2	81626		<li>V->M at 563: in dbSNP:rs12138972</li>									rs12138972	2
Q9BZQ8	116496		<li>S->L at 633: in dbSNP:rs12750174</li><li>D->N at 692: in dbSNP:rs35704242</li><li>V->M at 720: in dbSNP:rs17313374</li><li>G->S at 830: in dbSNP:rs35601690</li>									<li>rs12750174</li><li>rs35704242</li><li>rs35601690</li><li>rs17313374</li>	2
Q9BZS1	50943		<li>Missing  at 251: in IPEX</li><li>I->V at 363: in IPEX, MIM: 304790</li><li>F->C at 371: in IPEX, MIM: 304790</li><li>A->T at 384: in IPEX, MIM: 304790</li><li>R->W at 397: in IPEX: in dbSNP rsrs28935477, MIM: 304790</li>							Q9BZS1	Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]	rs28935477	2
Q9BZV1	80700		<li>P->L at 425: in dbSNP:rs35436704</li>									rs35436704	2
Q9BZV2	80704		<li>G->V at 23: in BBGD, MIM: 607483</li><li>V->A at 350: in dbSNP:rs34507036, MIM: 607483</li><li>T->A at 422: in BBGD, MIM: 607483</li>								Biotin-responsive basal ganglia disease (BBGD) [MIM:607483]	rs34507036	2
Q9BZV3	50939		<li>K->N at 344: in dbSNP:rs34375459</li><li>T->I at 674: in dbSNP:rs571391</li><li>P->L at 1013</li>									<li>rs571391</li><li>rs34375459</li>	2
Q9BZW2	6561		<li>F->L at 42: in dbSNP:rs28364181</li><li>V->I at 44: in dbSNP:rs28364177</li><li>Q->E at 157: in dbSNP:rs28364196</li><li>N->S at 174: in dbSNP:rs2140516</li><li>Y->C at 205: in dbSNP:rs28364231</li><li>R->H at 277: in dbSNP:rs28364200</li><li>V->A at 332: in dbSNP:rs28364201</li><li>I->T at 392: in dbSNP:rs28364210</li>									<li>rs28364196</li><li>rs2140516</li><li>rs28364181</li><li>rs28364177</li><li>rs28364210</li><li>rs28364200</li><li>rs28364201</li><li>rs28364231</li>	2
Q9BZW5	53346		<li>I->T at 17: in dbSNP:rs1062232</li><li>P->S at 59: in dbSNP:rs1989</li>									<li>rs1989</li><li>rs1062232</li>	2
Q9BZY9	11074		<li>P->R at 17: in dbSNP:rs36063651</li><li>R->C at 118: in dbSNP:rs3734838</li><li>V->I at 232: in dbSNP:rs2523989</li><li>L->P at 235: in dbSNP:rs35775852</li><li>E->K at 421: in dbSNP:rs1116221</li>									<li>rs35775852</li><li>rs1116221</li><li>rs3734838</li><li>rs36063651</li><li>rs2523989</li>	2
Q9BZZ2	6614		<li>V->L at 141: in dbSNP:rs35953127</li><li>V->M at 221: in dbSNP:rs6037651</li><li>K->R at 239: in dbSNP:rs625372</li><li>R->H at 464: in dbSNP:rs34924243</li><li>H->P at 919: in dbSNP:rs709012</li><li>A->V at 974: in dbSNP:rs3746638</li><li>S->Y at 1335: in dbSNP:rs3746636</li><li>R->W at 1487: in dbSNP:rs16988873</li><li>A->P at 1519: in dbSNP:rs2853217</li>									<li>rs709012</li><li>rs2853217</li><li>rs16988873</li><li>rs35953127</li><li>rs6037651</li><li>rs3746638</li><li>rs34924243</li><li>rs3746636</li><li>rs625372</li>	2
Q9BZZ5	8539		<li>P->S at 276</li><li>M->V at 300: in dbSNP:rs5743240</li><li>G->S at 493: in dbSNP:rs2862934</li>									<li>rs5743240</li><li>rs2862934</li>	2
Q9C009	94234		<li>T->P at 60: in dbSNP:rs9502889</li><li>Q->P at 61: in dbSNP:rs9502890</li>									<li>rs9502889</li><li>rs9502890</li>	2
Q9C019	89870		<li>I->V at 29: in dbSNP:rs17194460</li><li>A->T at 42: in dbSNP:rs17194467</li><li>E->Q at 84: in dbSNP:rs17194474</li><li>L->V at 235: in dbSNP:rs34823152</li><li>S->N at 324: in dbSNP:rs929156</li>									<li>rs17194460</li><li>rs17194474</li><li>rs17194467</li><li>rs929156</li><li>rs34823152</li>	2
Q9C026	114088		<li>L->F at 653: in dbSNP:rs2275462</li>									rs2275462	2
Q9C029	81786		<li>A->S at 18: in dbSNP:rs3857300</li><li>P->S at 73: in dbSNP:rs2770946</li><li>Q->E at 95: in dbSNP:rs2770945</li><li>V->A at 258: in dbSNP:rs416574</li><li>G->S at 363: in dbSNP:rs254460</li>									<li>rs254460</li><li>rs2770946</li><li>rs2770945</li><li>rs3857300</li><li>rs416574</li>	2
Q9C037	89122		<li>P->S at 367: in dbSNP:rs35432946</li><li>S->C at 474: in dbSNP:rs33998596</li>									<li>rs33998596</li><li>rs35432946</li>	2
Q9C056	84504		<li>V->A at 209: in dbSNP:rs2804003</li>									rs2804003	2
Q9C075	25984		<li>T->A at 303: in dbSNP:rs9257</li><li>S->F at 393: in dbSNP:rs17856805</li>									<li>rs9257</li><li>rs17856805</li>	2
Q9C093	79925		<li>N->H at 71: in dbSNP:rs6897513</li><li>G->S at 74: in dbSNP:rs34307272</li><li>R->K at 366: in dbSNP:rs16902381</li><li>R->Q at 447: in dbSNP:rs34852821</li><li>D->N at 500: in dbSNP:rs34708521</li><li>N->K at 616: in dbSNP:rs7710284</li><li>E->G at 655: in dbSNP:rs12332369</li><li>A->V at 904: in dbSNP:rs13170082</li><li>A->P at 934: in dbSNP:rs13170390</li><li>K->N at 1482: in dbSNP:rs2277044</li>									<li>rs34708521</li><li>rs13170390</li><li>rs7710284</li><li>rs16902381</li><li>rs2277044</li><li>rs12332369</li><li>rs13170082</li><li>rs34852821</li><li>rs34307272</li><li>rs6897513</li>	2
Q9C098	85443		<li>R->Q at 24: in dbSNP rsrs56070233</li><li>P->L at 108: in a breast infiltrating ductal carcinoma sample; somatic mutation</li><li>E->K at 422: in a colorectal adenocarcinoma sample; somatic mutation</li><li>S->N at 472: in a lung large cell carcinoma sample; somatic mutation</li><li>R->C at 554: in a lung squamous cell carcinoma sample; somatic mutation</li><li>G->R at 570: in a renal clear cell carcinoma sample; somatic mutation</li><li>V->A at 596: in a colorectal adenocarcinoma sample; somatic mutation</li><li>E->D at 633: in dbSNP rsrs35704209</li>									<li>rs35704209</li><li>rs56070233</li>	2
Q9C099	85444		<li>H->Q at 69: in dbSNP:rs16913589</li><li>T->A at 210: in dbSNP:rs3736038</li><li>K->N at 613: in dbSNP:rs6985225</li>									<li>rs6985225</li><li>rs16913589</li><li>rs3736038</li>	2
Q9C0A0	85445		<li>Q->H at 513: in dbSNP:rs6564343</li><li>D->E at 1155: in dbSNP:rs7202925</li><li>N->S at 1300: in dbSNP:rs34198820</li>									<li>rs34198820</li><li>rs7202925</li><li>rs6564343</li>	2
Q9C0A6	55209		<li>R->H at 77: in dbSNP:rs41387348</li><li>R->I at 119: in dbSNP:rs11720526</li><li>M->V at 1137: in dbSNP:rs13327456</li>									<li>rs41387348</li><li>rs11720526</li><li>rs13327456</li>	2
Q9C0B1	79068		<li>A->V at 405: in dbSNP:rs16952624</li>									rs16952624	2
Q9C0B2	85452		<li>S->I at 50: in dbSNP:rs13303083</li><li>I->V at 363: in dbSNP:rs16824588</li><li>G->C at 628: in dbSNP:rs3820011</li>									<li>rs3820011</li><li>rs13303083</li><li>rs16824588</li>	2
Q9C0B6	57795		<li>Y->C at 71: in dbSNP:rs16850984</li><li>L->V at 390: in dbSNP:rs3176443</li>									<li>rs3176443</li><li>rs16850984</li>	2
Q9C0C2	85456		<li>S->T at 322: in dbSNP:rs4939134</li><li>S->N at 714: in dbSNP:rs34203865</li>									<li>rs4939134</li><li>rs34203865</li>	2
Q9C0C6	85457		<li>L->F at 31: in dbSNP:rs11552006</li><li>T->A at 203: in dbSNP:rs759593</li>									<li>rs759593</li><li>rs11552006</li>	2
Q9C0C9	63893		<li>G->S at 1207: in dbSNP:rs3803739</li>									rs3803739	2
Q9C0D0	221692		<li>I->M at 247: in dbSNP:rs17602409</li>									rs17602409	2
Q9C0D4	85460		<li>S->P at 105: in dbSNP:rs10016702</li><li>S->N at 523: in dbSNP:rs9291410</li>									<li>rs9291410</li><li>rs10016702</li>	2
Q9C0D5	85461		<li>S->N at 251: in dbSNP:rs12466551</li><li>G->S at 1511: in dbSNP:rs13421084</li><li>T->A at 1573: in dbSNP:rs4664277</li>									<li>rs4664277</li><li>rs12466551</li><li>rs13421084</li>	2
Q9C0D6	85462		<li>R->C at 639: in dbSNP:rs3811833</li>									rs3811833	2
Q9C0E2	64328		<li>N->S at 149: in dbSNP:rs17320607</li><li>T->A at 451: in dbSNP:rs9552285</li>									<li>rs9552285</li><li>rs17320607</li>	2
Q9C0F0	80816		<li>N->S at 954: in dbSNP:rs2282632</li><li>M->R at 1415: in dbSNP:rs16964887</li><li>V->M at 1652: in dbSNP:rs17746949</li><li>M->V at 1708: in dbSNP:rs7232237</li>									<li>rs7232237</li><li>rs16964887</li><li>rs2282632</li><li>rs17746949</li>	2
Q9C0F1	80817		<li>G->S at 147: in dbSNP:rs4695918</li>									rs4695918	2
Q9C0F3	80818		<li>C->G at 196: in a breast cancer sample; somatic mutation</li>										2
Q9C0G0	55628		<li>N->S at 69: in dbSNP:rs3794942</li><li>G->R at 512: in dbSNP:rs7227263</li><li>N->T at 972: in dbSNP:rs948615</li><li>A->T at 1913: in dbSNP:rs17056248</li>									<li>rs948615</li><li>rs17056248</li><li>rs7227263</li><li>rs3794942</li>	2
Q9C0I9	80313		<li>R->C at 195: in dbSNP:rs2474329</li>									rs2474329	2
Q9C0J1	79369		<li>P->A at 6: in dbSNP:rs7136356</li><li>S->T at 83: in dbSNP:rs1001178</li><li>L->P at 87: in dbSNP:rs35203505</li>									<li>rs1001178</li><li>rs7136356</li><li>rs35203505</li>	2
Q9C0J8	55339		<li>A->S at 33: in dbSNP:rs11557686</li><li>P->R at 711: in dbSNP:rs12615078</li>									<li>rs11557686</li><li>rs12615078</li>	2
Q9C0K0	64919		<li>S->P at 331: in a colorectal cancer sample; somatic mutation</li>										2
Q9C0K1	64116		<li>A->T at 391: in dbSNP:rs13107325</li>									rs13107325	2
Q9C0K7	55437		<li>G->E at 155: in a metastatic melanoma sample; somatic mutation</li><li>P->L at 386: in dbSNP rsrs35636836</li>									rs35636836	2
Q9GZK3			<li>Q->R at 234: in allele 6M1-10*02</li>										2
Q9GZK4	26716		<li>D->N at 63: in allele 6M1-16*02</li><li>V->M at 223: in dbSNP:rs17184086</li>									rs17184086	2
Q9GZK6			<li>L->I at 14</li>										2
Q9GZK7	26531		<li>Y->C at 121: in dbSNP:rs16894898</li><li>A->T at 165: in allele 6M1-18*02; dbSNP:rs9257857</li>									<li>rs16894898</li><li>rs9257857</li>	2
Q9GZL7	55759		<li>M->V at 72</li><li>I->V at 75: in dbSNP:rs35212307</li><li>Y->C at 89</li><li>E->G at 286</li>									rs35212307	2
Q9GZM5	25844		<li>A->V at 5: in dbSNP:rs2231763</li>									rs2231763	2
Q9GZM6	283160		<li>R->H at 122: in dbSNP:rs2512219</li><li>P->L at 263: in dbSNP:rs2466620</li>									<li>rs2512219</li><li>rs2466620</li>	2
Q9GZM7	64129		<li>A->S at 69: in dbSNP:rs17497479</li>									rs17497479	2
Q9GZN6	28968		<li>S->R at 108: in dbSNP:rs35860981</li>									rs35860981	2
Q9GZN7	79641		<li>E->K at 59: in dbSNP:rs2305659</li>									rs2305659	2
Q9GZP1	80023		<li>L->V at 41: in dbSNP:rs11556643</li><li>S->C at 65: in dbSNP:rs17762763</li>									<li>rs17762763</li><li>rs11556643</li>	2
Q9GZP7	57191		<li>I->M at 103: in dbSNP:rs3746223</li><li>I->T at 139: in allele VN1R1*2</li><li>S->F at 241: in allele VN1R1*3: in dbSNP rsrs28649880</li><li>A->D at 269: in allele VN1R1*3</li>							<li>Q8WN92</li><li>Q9GZP7</li>		<li>rs28649880</li><li>rs3746223</li>	2
Q9GZQ3	28991		<li>A->T at 6: in dbSNP:rs1209879</li><li>Q->H at 69: in dbSNP:rs421427</li>									<li>rs1209879</li><li>rs421427</li>	2
Q9GZQ4	56923		<li>S->T at 298: in dbSNP:rs4958535</li><li>F->L at 315: in dbSNP:rs1895245</li><li>P->L at 383: in dbSNP:rs4958532</li><li>M->V at 388: in dbSNP:rs4958531</li><li>T->A at 395: in dbSNP:rs1363422</li>									<li>rs1895245</li><li>rs1363422</li><li>rs4958531</li><li>rs4958532</li><li>rs4958535</li>	2
Q9GZR2	57109		<li>R->K at 141: in dbSNP:rs6597630</li><li>T->A at 283: in dbSNP:rs2285487</li>									<li>rs2285487</li><li>rs6597630</li>	2
Q9GZR3	55997		<li>R->W at 78: in dbSNP:rs2579433</li><li>R->C at 112: in HTX2; complete loss of activity; abnormal cell surface localization, MIM: 605376</li><li>R->C at 189, MIM: 605376</li>	localization	GO:0051179			cell surface	GO:0009928,GO:0009986		Visceral heterotaxy (HTX2) [MIM:605376]	rs2579433	2
Q9GZR5	6785		<li>I->T at 267</li><li>M->V at 299: in dbSNP:rs3812153</li>									rs3812153	2
Q9GZR7	57062		<li>E->K at 316: in dbSNP:rs35413935</li>									rs35413935	2
Q9GZS0	64446		<li>T->A at 558: in dbSNP:rs1979370</li>									rs1979370	2
Q9GZS1	64425		<li>D->H at 254: in dbSNP:rs7863488</li><li>V->M at 418: in dbSNP:rs7867180</li><li>R->K at 445: in dbSNP:rs10814571</li>									<li>rs7867180</li><li>rs7863488</li><li>rs10814571</li>	2
Q9GZS9	23563		<li>T->M at 297: in dbSNP:rs3826107</li>									rs3826107	2
Q9GZT5	80326		<li>P->T at 302: in dbSNP:rs1057306</li>									rs1057306	2
Q9GZT6	60492		<li>L->F at 10: in dbSNP:rs494791</li>									rs494791	2
Q9GZT8	60491		<li>T->I at 324: in dbSNP:rs7917</li>									rs7917	2
Q9GZU0	81688		<li>W->C at 116: in dbSNP:rs34238213</li><li>R->S at 140: in dbSNP:rs35050510</li>									<li>rs35050510</li><li>rs34238213</li>	2
Q9GZU1	57192		<li>L->P at 106: in MLIV, MIM: 252650</li><li>T->P at 232: in MLIV; fails to localize to late endosomes, MIM: 252650</li><li>V->L at 331: in a breast cancer sample; somatic mutation, MIM: 252650</li><li>D->Y at 362: in MLIV; affects channel activity, MIM: 252650</li><li>R->C at 403: in MLIV, MIM: 252650</li><li>Missing  at 408: in MLIV; mild psychomotor involvement; does not affect channel activity; affects channel inhibition by low pH; still localizes to late endosomes, MIM: 252650</li><li>V->L at 446: in MLIV; does not affect channel activity; affects channel inhibition by low pH, MIM: 252650</li><li>L->P at 447: in MLIV, MIM: 252650</li><li>F->L at 465: in MLIV; still localizes to late endosomes, MIM: 252650</li>					late endosomes	GO:0005770		Mucolipidosis type IV (MLIV) [MIM:252650]		2
Q9GZU2	5178		<li>A->T at 235: in dbSNP:rs2191432</li><li>R->H at 594: in a colorectal cancer sample; somatic mutation</li><li>E->G at 624: in dbSNP:rs36016896</li><li>V->L at 839: in dbSNP:rs7251798</li><li>N->S at 947: in dbSNP:rs35851866</li><li>D->G at 983: in dbSNP:rs10412932</li><li>A->V at 1456: in dbSNP:rs34831553</li><li>R->H at 1576: in dbSNP:rs34051133</li><li>R->L at 1576</li>									<li>rs35851866</li><li>rs2191432</li><li>rs7251798</li><li>rs10412932</li><li>rs36016896</li><li>rs34831553</li><li>rs34051133</li>	2
Q9GZU5	60506		<li>Missing  at 29-36: in CSNB1A</li><li>C->S at 31: in CSNB1A, MIM: 310500</li><li>Missing  at 101: in CSNB1A, MIM: 310500</li><li>Missing  at 114-118: in CSNB1A, MIM: 310500</li><li>A->P at 143: in CSNB1A, MIM: 310500</li><li>P->L at 151: in CSNB1A, MIM: 310500</li><li>L->LSVPERLL at 155: in CSNB1A, MIM: 310500</li><li>P->R at 175: in CSNB1A, MIM: 310500</li><li>L->P at 184: in CSNB1A, MIM: 310500</li><li>A->K at 187: in CSNB1A; requires 2 nucleotide substitutions, MIM: 310500</li><li>R->RLLR at 207: in CSNB1A, MIM: 310500</li><li>R->RCLR at 209: in CSNB1A, MIM: 310500</li><li>L->Q at 213: in CSNB1A, MIM: 310500</li><li>N->S at 216: in CSNB1A, MIM: 310500</li><li>L->P at 232: in CSNB1A, MIM: 310500</li><li>Missing  at 243-246: in CSNB1A, MIM: 310500</li><li>N->K at 264: in CSNB1A, MIM: 310500</li><li>L->P at 285: in CSNB1A, MIM: 310500</li><li>F->S at 298: in CSNB1A, MIM: 310500</li><li>L->P at 307: in CSNB1A, MIM: 310500</li><li>N->S at 312: in CSNB1A, MIM: 310500</li><li>L->P at 347: in CSNB1A, MIM: 310500</li><li>G->V at 370: in CSNB1A, MIM: 310500</li><li>A->G at 406: in dbSNP:rs34169326, MIM: 310500</li>								Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]	rs34169326	2
Q9GZU7	58190		<li>A->T at 56: in dbSNP:rs2227249</li>									rs2227249	2
Q9GZV1	26287		<li>A->T at 62: in dbSNP:rs7094973</li>									rs7094973	2
Q9GZV3	60482		<li>I->V at 89: 40% reduction in choline uptake rate; found in 0.06 of Ashkenazi Jews; dbSNP:rs1013940</li>									rs1013940	2
Q9GZV4	56648		<li>E->D at 42</li>										2
Q9GZV8	63978		<li>K->E at 244: in dbSNP:rs3750228</li>									rs3750228	2
Q9GZV9	8074		<li>S->G at 71: in HFTC; only the C-terminal fragment is secreted, whereas the intact protein is retained in the Golgi complex, MIM: 211900</li><li>R->Q at 176: in ADHR, MIM: 193100</li><li>R->Q at 179: in ADHR; C-terminal processing is abolished, MIM: 193100</li><li>R->W at 179: in ADHR; C-terminal processing is abolished: in dbSNP rsrs28937882, MIM: 193100</li><li>P->S at 195: in dbSNP:rs13312793, MIM: 193100</li><li>T->M at 239: in dbSNP:rs7955866, MIM: 193100</li>					Golgi complex	GO:0005794	P30518	<li>Hyperphosphatemic familial tumoral calcinosis (HFTC) [MIM:211900]</li><li>Autosomal dominant hypophosphataemic rickets (ADHR) [MIM:193100]</li>	<li>rs28937882</li><li>rs13312793</li><li>rs7955866</li>	2
Q9GZW5			<li>P->T at 110: in dbSNP:rs16974462</li><li>A->T at 185: in dbSNP:rs698620</li>									<li>rs698620</li><li>rs16974462</li>	2
Q9GZW8	58475		<li>E->K at 34: in dbSNP:rs2233241</li><li>P->H at 112: in dbSNP:rs2233249</li><li>S->F at 157: in dbSNP:rs2233251</li>									<li>rs2233249</li><li>rs2233251</li><li>rs2233241</li>	2
Q9GZX3	4166		<li>L->P at 15: in MCD, MIM: 217800</li><li>L->R at 22: in MCD, MIM: 217800</li><li>P->S at 31: in MCD, MIM: 217800</li><li>H->Y at 42: in MCD, MIM: 217800</li><li>R->C at 50: in MCD; abolishes ability to sulfate keratan; dbSNP:rs28937877, MIM: 217800</li><li>S->L at 51: in MCD, MIM: 217800</li><li>G->D at 52: in MCD, MIM: 217800</li><li>S->L at 53: in MCD, MIM: 217800</li><li>L->P at 59: in MCD, MIM: 217800</li><li>N->T at 61: in MCD, MIM: 217800</li><li>V->L at 66: in MCD, MIM: 217800</li><li>Y->H at 68: in MCD, MIM: 217800</li><li>M->L at 70: in MCD, MIM: 217800</li><li>P->S at 72: in MCD, MIM: 217800</li><li>V->M at 76: in MCD, MIM: 217800</li><li>R->H at 93: in MCD, MIM: 217800</li><li>R->P at 97: in MCD, MIM: 217800</li><li>S->W at 98: in MCD, MIM: 217800</li><li>C->G at 102: in MCD, MIM: 217800</li><li>C->Y at 102: in MCD, MIM: 217800</li><li>M->V at 104: in MCD, MIM: 217800</li><li>F->S at 107: in MCD, MIM: 217800</li><li>Y->C at 110: in MCD, MIM: 217800</li><li>F->L at 121: in MCD, MIM: 217800</li><li>Q->P at 122: in MCD, MIM: 217800</li><li>R->C at 127: in MCD, MIM: 217800</li><li>A->V at 128: in MCD, MIM: 217800</li><li>S->P at 131: in MCD, MIM: 217800</li><li>L->P at 152: in MCD, MIM: 217800</li><li>R->G at 162: in MCD, MIM: 217800</li><li>R->P at 166: in MCD, MIM: 217800</li><li>K->R at 174: in MCD; abolishes ability to sulfate keratan; dbSNP:rs28937878: in dbSNP rsrs28937877, MIM: 217800</li><li>R->H at 177: in MCD, MIM: 217800</li><li>V->E at 198: in MCD, MIM: 217800</li><li>L->R at 200: in MCD; dbSNP:rs28937879, MIM: 217800</li><li>R->S at 202: in MCD, MIM: 217800</li><li>D->E at 203: in MCD; abolishes ability to sulfate keratan: in dbSNP rsrs28937878, MIM: 217800</li><li>P->Q at 204: in MCD, MIM: 217800</li><li>R->L at 205: in MCD, MIM: 217800</li><li>R->Q at 205: in MCD, MIM: 217800</li><li>A->T at 206: in MCD, MIM: 217800</li><li>A->V at 206: in MCD, MIM: 217800</li><li>S->F at 210: in MCD, MIM: 217800</li><li>R->Q at 211: in MCD, MIM: 217800</li><li>R->W at 211: in MCD; abolishes ability to sulfate keratan, MIM: 217800</li><li>A->T at 217: in MCD; abolishes ability to sulfate keratan, MIM: 217800</li><li>D->E at 221: in MCD, MIM: 217800</li><li>D->Y at 221: in MCD, MIM: 217800</li><li>H->P at 249: in MCD, MIM: 217800</li><li>Y->C at 268: in MCD, MIM: 217800</li><li>E->K at 274: in MCD; abolishes ability to sulfate keratan, MIM: 217800</li><li>L->P at 276: in MCD, MIM: 217800</li><li>Y->D at 358: in MCD, MIM: 217800</li><li>N->D at 369: in dbSNP:rs35036798, MIM: 217800</li>							<li>Q99J39</li><li>O95822</li><li>Q920F5</li><li>P12617</li>	Macular corneal dystrophy (MCD) [MIM:217800]	<li>rs28937879</li><li>rs28937877</li><li>rs28937878</li><li>rs35036798</li>	2
Q9GZX5	59348		<li>M->I at 37: in dbSNP:rs4987241</li><li>L->P at 66: in dbSNP:rs2278420</li><li>I->T at 69: in dbSNP:rs4987042</li><li>R->C at 132: in dbSNP:rs28997584</li><li>E->K at 406: in dbSNP:rs3764539</li><li>S->P at 472: in dbSNP:rs4986771</li><li>S->R at 501: in dbSNP:rs2278415</li><li>V->I at 524: in dbSNP:rs4988337</li>									<li>rs4988337</li><li>rs2278415</li><li>rs2278420</li><li>rs3764539</li><li>rs28997584</li><li>rs4987042</li><li>rs4987241</li><li>rs4986771</li>	2
Q9GZX6	50616		<li>S->G at 158: in dbSNP:rs2227507</li>									rs2227507	2
Q9GZX7	57379		<li>R->W at 24: in HIGM2, MIM: 605258</li><li>R->C at 25, MIM: 605258</li><li>W->R at 80: in HIGM2, MIM: 605258</li><li>L->P at 106: in HIGM2, MIM: 605258</li><li>M->V at 139: in HIGM2, MIM: 605258</li><li>F->S at 151: in HIGM2, MIM: 605258</li>								Autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2) [MIM:605258]		2
Q9GZY8	56947		<li>S->C at 7: in dbSNP:rs3211097</li><li>S->I at 7: in dbSNP:rs3211098</li><li>E->K at 29: in a colorectal cancer sample; somatic mutation</li>									<li>rs3211097</li><li>rs3211098</li>	2
Q9GZZ0	3231		<li>A->T at 296: in dbSNP:rs6710142</li>									rs6710142	2
Q9GZZ6	57053		<li>E->A at 355: in dbSNP:rs2231547</li>									rs2231547	2
Q9H000	23609		<li>R->Q at 388: in dbSNP:rs5746260</li>									rs5746260	2
Q9H008			<li>Q->R at 94: in dbSNP:rs6597801</li>									rs6597801	2
Q9H009	342538		<li>V->I at 64: in dbSNP:rs17531723</li>									rs17531723	2
Q9H013	8728		<li>R->Q at 134: in a colorectal cancer sample; somatic mutation</li><li>A->T at 299: in a colorectal cancer sample; somatic mutation</li>										2
Q9H015	6583		<li>I->T at 306: in dbSNP:rs272893</li><li>G->E at 462: abrogates TEA transport activity; dbSNP:rs4646201</li><li>L->F at 503: in CD; reduces the ability to transport carnitine; dbSNP:rs1050152, MIM: 266600</li>	transport	GO:0006810						Crohn disease (CD) [MIM:266600]	<li>rs1050152</li><li>rs4646201</li><li>rs272893</li>	2
Q9H019	56181		<li>P->S at 58: in dbSNP:rs35448678</li>									rs35448678	2
Q9H040	83932		<li>P->L at 296: in dbSNP:rs2437150</li>									rs2437150	2
Q9H061	84233		<li>R->H at 64: in dbSNP:rs11556797</li>									rs11556797	2
Q9H069	83450		<li>R->Q at 159: in dbSNP:rs8072048</li><li>R->W at 191: in dbSNP:rs4584886</li><li>A->V at 364: in dbSNP:rs11656629</li>									<li>rs8072048</li><li>rs4584886</li><li>rs11656629</li>	2
Q9H078	81570		<li>R->T at 295: in dbSNP:rs7938203</li>									rs7938203	2
Q9H081	79003		<li>M->V at 21: in dbSNP:rs16954781</li>									rs16954781	2
Q9H089	55341		<li>L->P at 92: in dbSNP:rs34423045</li><li>K->E at 267: in dbSNP:rs1675953</li>									<li>rs34423045</li><li>rs1675953</li>	2
Q9H091	84225		<li>R->H at 401: in dbSNP:rs35005394</li>									rs35005394	2
Q9H094	84224		<li>Y->C at 114: in dbSNP:rs1827293</li><li>R->Q at 198: in dbSNP:rs16825377</li><li>D->E at 444: in dbSNP:rs12043777</li><li>L->V at 459: in dbSNP:rs12034222</li>									<li>rs16825377</li><li>rs12034222</li><li>rs1827293</li><li>rs12043777</li>	2
Q9H095	84223		<li>A->D at 112: in dbSNP:rs9880989</li>									rs9880989	2
Q9H0A6	140545		<li>R->Q at 288: in dbSNP:rs2302148</li><li>H->Q at 291: in dbSNP:rs2302147</li><li>R->C at 307: in dbSNP:rs2302146</li>									<li>rs2302148</li><li>rs2302147</li><li>rs2302146</li>	2
Q9H0B3	80726		<li>L->P at 44: in dbSNP:rs1469023</li><li>A->V at 50: in dbSNP:rs3810431</li><li>C->R at 197: in dbSNP:rs12609001</li><li>L->V at 235: in dbSNP:rs8103906</li><li>S->T at 285: in dbSNP:rs8104533</li><li>M->T at 359: in dbSNP:rs3746186</li><li>T->A at 524: in dbSNP:rs12462974</li><li>T->P at 610: in dbSNP:rs2277922</li><li>A->V at 614: in dbSNP:rs16982285</li><li>Y->F at 648: in dbSNP:rs8110972</li><li>P->R at 823: in dbSNP:rs12608777</li><li>P->L at 835: in dbSNP:rs2277921</li><li>P->H at 908: in dbSNP:rs999813</li>									<li>rs12462974</li><li>rs16982285</li><li>rs2277921</li><li>rs2277922</li><li>rs3810431</li><li>rs12608777</li><li>rs8104533</li><li>rs8110972</li><li>rs8103906</li><li>rs3746186</li><li>rs1469023</li><li>rs12609001</li><li>rs999813</li>	2
Q9H0B6	64837		<li>P->S at 517: in dbSNP:rs2276036</li>									rs2276036	2
Q9H0B8	83716		<li>S->G at 105: in dbSNP:rs12051468</li><li>T->S at 322: in dbSNP:rs721005</li>									<li>rs12051468</li><li>rs721005</li>	2
Q9H0C1	84217		<li>L->F at 316: in dbSNP:rs1034268</li>									rs1034268	2
Q9H0C3	84216		<li>R->H at 90: in dbSNP:rs1948516</li>									rs1948516	2
Q9H0D2	84215		<li>P->S at 486: in dbSNP:rs3810320</li><li>S->L at 712: in a breast cancer sample; somatic mutation</li><li>K->E at 791: in dbSNP:rs34984302</li><li>T->S at 795: in dbSNP:rs3826835</li>									<li>rs3826835</li><li>rs34984302</li><li>rs3810320</li>	2
Q9H0D6	22803		<li>R->M at 743: in dbSNP:rs6137324</li><li>R->C at 925: in dbSNP:rs6047420</li>									<li>rs6047420</li><li>rs6137324</li>	2
Q9H0E2	54472		<li>A->S at 222: in dbSNP:rs5744015</li>									rs5744015	2
Q9H0E7	84101		<li>A->T at 91: in dbSNP:rs3812813</li>									rs3812813	2
Q9H0E9	10902		<li>T->M at 490: in dbSNP:rs11750814</li><li>L->P at 896: in dbSNP:rs6883021</li><li>R->Q at 1198: in dbSNP:rs412051</li>									<li>rs412051</li><li>rs11750814</li><li>rs6883021</li>	2
Q9H0F6	81858		<li>S->T at 282: in dbSNP:rs11541804</li><li>P->S at 294: in dbSNP:rs34674752</li><li>P->R at 311: in dbSNP:rs35844464</li>									<li>rs11541804</li><li>rs35844464</li><li>rs34674752</li>	2
Q9H0F7	84100		<li>T->M at 31: in BBS3, MIM: 209900</li><li>T->R at 31: in BBS3, MIM: 209900</li><li>G->A at 169: in BBS3, MIM: 209900</li><li>L->W at 170: in BBS3, MIM: 209900</li>								Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]		2
Q9H0G5	84081		<li>K->T at 86: in dbSNP:rs11544945</li>									rs11544945	2
Q9H0H0	57508		<li>H->N at 768: in dbSNP:rs606072</li>									rs606072	2
Q9H0H3	64410		<li>V->I at 250: in dbSNP:rs35582838</li><li>M->L at 257: in dbSNP:rs36031133</li>									<li>rs36031133</li><li>rs35582838</li>	2
Q9H0I3	29070		<li>D->E at 4: in dbSNP:rs8043587</li><li>S->T at 6: in dbSNP:rs8043590</li>									<li>rs8043590</li><li>rs8043587</li>	2
Q9H0I9	84076		<li>R->Q at 442: in dbSNP:rs3811750</li><li>Q->H at 590: in dbSNP:rs11735477</li>									<li>rs11735477</li><li>rs3811750</li>	2
Q9H0J4	84074		<li>L->S at 202: in dbSNP:rs6501880</li><li>I->T at 630: in dbSNP:rs6501878</li><li>H->Y at 906: in dbSNP:rs2279054</li><li>H->R at 974: in dbSNP:rs2279053</li><li>E->Q at 1036: in dbSNP:rs2279052</li>									<li>rs2279052</li><li>rs2279053</li><li>rs2279054</li><li>rs6501878</li><li>rs6501880</li>	2
Q9H0J9	64761		<li>V->I at 293: in dbSNP:rs34111764</li><li>V->M at 463: in dbSNP:rs35456446</li><li>A->V at 620: in dbSNP:rs17161356</li>									<li>rs17161356</li><li>rs35456446</li><li>rs34111764</li>	2
Q9H0K4	81492		<li>A->V at 50: in dbSNP:rs12459916</li>									rs12459916	2
Q9H0K6	83448		<li>I->M at 92: in dbSNP:rs33999797</li><li>K->E at 264: in dbSNP:rs1057190</li><li>I->V at 343: in dbSNP:rs34668377</li>									<li>rs1057190</li><li>rs34668377</li><li>rs33999797</li>	2
Q9H0M4	55063		<li>T->A at 153: in dbSNP:rs6465770</li><li>E->K at 365: in dbSNP:rs6970350</li>									<li>rs6970350</li><li>rs6465770</li>	2
Q9H0M5	90592		<li>E->G at 269: in dbSNP:rs12327617</li><li>L->V at 321: in dbSNP:rs17001730</li>									<li>rs17001730</li><li>rs12327617</li>	2
Q9H0N0	84084		<li>A->T at 159</li>										2
Q9H0R4	84064		<li>R->Q at 85: in dbSNP:rs7230131</li>									rs7230131	2
Q9H0R5	2635		<li>R->Q at 221: in dbSNP:rs4656078</li><li>R->W at 225: in dbSNP:rs4656077</li><li>T->S at 347: in dbSNP:rs3188433</li><li>V->M at 469: in dbSNP:rs10493821</li><li>C->R at 491: in dbSNP:rs17433780</li><li>V->A at 558: in dbSNP:rs11808228</li>									<li>rs3188433</li><li>rs4656078</li><li>rs4656077</li><li>rs11808228</li><li>rs10493821</li><li>rs17433780</li>	2
Q9H0R6	55278		<li>A->V at 11: in dbSNP:rs36016898</li><li>N->S at 263: in dbSNP:rs34221917</li>									<li>rs36016898</li><li>rs34221917</li>	2
Q9H0T7	64284		<li>V->A at 19: in dbSNP:rs3751112</li><li>S->G at 184: in dbSNP:rs34311889</li><li>L->P at 191: in dbSNP:rs2280289</li>									<li>rs2280289</li><li>rs3751112</li><li>rs34311889</li>	2
Q9H0U3	84061		<li>V->G at 311: in MRX95, MIM: 300716</li>								Mental retardation X-linked type 95 (MRX95) [MIM:300716]		2
Q9H0U6	29074		<li>R->Q at 6: in dbSNP:rs1128670</li>									rs1128670	2
Q9H0U9	7259		<li>P->S at 62: in dbSNP:rs3828743</li><li>A->P at 74: in dbSNP:rs3749895</li><li>A->T at 181: in dbSNP:rs3749894</li>									<li>rs3828743</li><li>rs3749894</li><li>rs3749895</li>	2
Q9H0W5	83987		<li>K->N at 507: in dbSNP:rs2279517</li>									rs2279517	2
Q9H0W7	83591		<li>T->M at 170: in dbSNP:rs17110155</li>									rs17110155	2
Q9H0X9	114879		<li>A->T at 774: in dbSNP:rs2277301</li>									rs2277301	2
Q9H0Y0	83734		<li>S->P at 62: in dbSNP:rs3734114</li><li>T->M at 212: in dbSNP:rs1864183</li><li>P->H at 220: in dbSNP:rs1864182</li>									<li>rs1864183</li><li>rs1864182</li><li>rs3734114</li>	2
Q9H0Z9	55544		<li>A->V at 178: in dbSNP:rs1065288</li><li>A->D at 200: in dbSNP:rs1065289</li><li>P->H at 212: in dbSNP:rs1065290</li>									<li>rs1065290</li><li>rs1065289</li><li>rs1065288</li>	2
Q9H114	128817		<li>T->A at 59: in dbSNP:rs7361799</li><li>Y->F at 62: in dbSNP:rs16985357</li><li>R->K at 66: in dbSNP:rs17757442</li><li>W->R at 88: in dbSNP:rs3746736</li><li>T->M at 96: in dbSNP:rs3746737</li>									<li>rs16985357</li><li>rs17757442</li><li>rs3746737</li><li>rs7361799</li><li>rs3746736</li>	2
Q9H115	63908		<li>A->T at 61: in dbSNP:rs6036399</li>									rs6036399	2
Q9H116	64412		<li>N->S at 190: in dbSNP:rs3810574</li><li>Q->P at 275: in dbSNP:rs6048760</li><li>K->N at 318: in dbSNP:rs6114068</li><li>D->N at 667: in dbSNP:rs6048766</li>									<li>rs6048766</li><li>rs6114068</li><li>rs3810574</li><li>rs6048760</li>	2
Q9H147	116092		<li>A->T at 183: in dbSNP:rs408911</li>									rs408911	2
Q9H156	84631		<li>S->P at 601: in dbSNP:rs2295336</li>									rs2295336	2
Q9H158	56135		<li>L->V at 498: in dbSNP:rs246074</li>									rs246074	2
Q9H161	60529		<li>T->R at 35: in dbSNP rsrs3824915</li><li>S->P at 102: in dbSNP rsrs12421995</li><li>R->Q at 218: in PFM2, MIM: 609597</li><li>R->P at 272: in PFM2, MIM: 609597</li>							Q9NQX1	Parietal foramina 2 (PFM2) [MIM:609597]	<li>rs3824915</li><li>rs12421995</li>	2
Q9H165	53335		<li>S->F at 142: in a breast cancer sample; somatic mutation</li>										2
Q9H171	81030		<li>E->K at 88: in dbSNP:rs2073145</li>									rs2073145	2
Q9H172	64137		<li>P->L at 352: in dbSNP:rs35060365</li>									rs35060365	2
Q9H173	64374		<li>Q->R at 80: in dbSNP:rs35581768</li>									rs35581768	2
Q9H175	81566		<li>T->M at 436: in dbSNP:rs11542510</li>									rs11542510	2
Q9H190	27111		<li>V->M at 182: in dbSNP:rs2273959</li><li>R->Q at 191: in a colorectal cancer sample; somatic mutation; dbSNP:rs35367003</li><li>R->C at 223: in dbSNP:rs1048621</li><li>G->R at 242: in dbSNP:rs4814111</li>									<li>rs1048621</li><li>rs35367003</li><li>rs4814111</li><li>rs2273959</li>	2
Q9H195			<li>A->V at 698</li><li>H->Y at 877</li>										2
Q9H1B5	64132		<li>G->R at 60: in dbSNP:rs739990</li><li>R->T at 305: in dbSNP:rs12451299</li><li>T->R at 801: in dbSNP:rs6504649</li>									<li>rs739990</li><li>rs6504649</li><li>rs12451299</li>	2
Q9H1C3	83468		<li>A->T at 37: in dbSNP:rs17035120</li>									rs17035120	2
Q9H1C7	84418		<li>C->S at 90: in dbSNP:rs17852164</li>									rs17852164	2
Q9H1E1	84659		<li>P->A at 103: in dbSNP:rs1263872</li><li>Y->H at 116: in dbSNP:rs1243469</li>									<li>rs1243469</li><li>rs1263872</li>	2
Q9H1E3	64710		<li>E->G at 119: in dbSNP:rs3207505</li><li>L->P at 137: in dbSNP:rs17355035</li>									<li>rs17355035</li><li>rs3207505</li>	2
Q9H1E5	56255		<li>Y->C at 215: in dbSNP:rs1135711</li><li>G->R at 303: in dbSNP:rs2076015</li>									<li>rs1135711</li><li>rs2076015</li>	2
Q9H1H1	149699		<li>L->V at 56: in dbSNP:rs17826038</li>									rs17826038	2
Q9H1H9	63971		<li>M->V at 1415: in dbSNP:rs17689215</li><li>F->S at 1600: in dbSNP:rs12211658</li>									<li>rs12211658</li><li>rs17689215</li>	2
Q9H1I8	84164		<li>R->C at 96: in dbSNP:rs1894473</li><li>V->I at 123: in dbSNP:rs11549795</li><li>D->H at 407: in dbSNP:rs28265</li><li>P->S at 423: in dbSNP:rs36571</li><li>R->Q at 509: in dbSNP:rs4823054</li><li>D->G at 546: in dbSNP:rs34833047</li><li>E->K at 588: in dbSNP:rs34062345</li><li>R->L at 639: in dbSNP:rs6006259</li>									<li>rs36571</li><li>rs34833047</li><li>rs28265</li><li>rs6006259</li><li>rs34062345</li><li>rs4823054</li><li>rs11549795</li><li>rs1894473</li>	2
Q9H1L0	128826		<li>V->A at 27: in dbSNP:rs6062251</li>									rs6062251	2
Q9H1M0	54830		<li>F->L at 54: in dbSNP:rs16987290</li><li>T->I at 177: in dbSNP:rs1298577</li>									<li>rs16987290</li><li>rs1298577</li>	2
Q9H1M3	140881		<li>T->S at 149: in dbSNP:rs1053783</li>									rs1053783	2
Q9H1M4	140850		<li>G->R at 31: in dbSNP:rs12624954</li><li>R->S at 71: in dbSNP:rs16995685</li>									<li>rs12624954</li><li>rs16995685</li>	2
Q9H1P6	128602		<li>R->H at 26: in dbSNP:rs16984945</li><li>I->V at 99: in dbSNP:rs17440813</li>									<li>rs16984945</li><li>rs17440813</li>	2
Q9H1Q7	64773		<li>Q->H at 22: in dbSNP:rs2274670</li>									rs2274670	2
Q9H1R3	85366		<li>A->V at 87: in CMH, MIM: 192600</li><li>A->E at 95: in CMH, MIM: 192600</li><li>A->V at 117: in a lung neuroendocrine carcinoma sample; somatic mutation, MIM: 192600</li><li>G->V at 142: in dbSNP rsrs56385445, MIM: 192600</li><li>P->A at 144: in dbSNP rsrs34396614, MIM: 192600</li><li>K->N at 324: in dbSNP rsrs34146416, MIM: 192600</li>								Cardiomyopathy familial hypertrophic (CMH) [MIM:192600]	<li>rs56385445</li><li>rs34396614</li><li>rs34146416</li>	2
Q9H1U9	92014		<li>T->M at 205: in a breast cancer sample; somatic mutation</li>										2
Q9H1X1	221421		<li>V->I at 261: in dbSNP:rs16896629</li><li>Missing  at 268: in CILD12</li>									rs16896629	2
Q9H1Y3	23596		<li>A->V at 167: in dbSNP:rs12072790</li><li>V->I at 183: in dbSNP:rs2273712</li>									<li>rs2273712</li><li>rs12072790</li>	2
Q9H1Z8	84417		<li>A->T at 52: in dbSNP:rs10187689</li>									rs10187689	2
Q9H205	144125		<li>V->L at 187: in dbSNP:rs2659880</li>									rs2659880	2
Q9H207	144124		<li>K->M at 41: in dbSNP:rs7949377</li>									rs7949377	2
Q9H208	341276		<li>A->T at 134: in dbSNP:rs2741764</li><li>H->R at 207: in dbSNP:rs10839631</li><li>I->T at 240: in dbSNP:rs10839632</li><li>K->T at 258: in dbSNP:rs7926083</li>									<li>rs2741764</li><li>rs7926083</li><li>rs10839631</li><li>rs10839632</li>	2
Q9H209	283297		<li>R->H at 221: in dbSNP:rs7938371</li><li>L->F at 246: in dbSNP:rs16919049</li><li>R->Q at 262: in dbSNP:rs10839635</li>									<li>rs10839635</li><li>rs7938371</li><li>rs16919049</li>	2
Q9H210	120776		<li>S->P at 148: in dbSNP:rs1965209</li><li>I->M at 163: in dbSNP:rs1965207</li><li>I->T at 163: in dbSNP:rs1965208</li><li>M->T at 202: in dbSNP:rs2741804</li>									<li>rs2741804</li><li>rs1965208</li><li>rs1965209</li><li>rs1965207</li>	2
Q9H221	64241		<li>D->H at 19: associated significantly with GBD4; dbSNP:rs11887534</li><li>Y->C at 54: in dbSNP:rs4148211</li><li>R->H at 184: in sitosterolemia, MIM: 210250</li><li>V->M at 210: in dbSNP:rs9282574, MIM: 210250</li><li>P->T at 231: in sitosterolemia, MIM: 210250</li><li>E->K at 238: in dbSNP:rs34754243, MIM: 210250</li><li>A->V at 259: in dbSNP:rs35518570, MIM: 210250</li><li>R->Q at 263: in sitosterolemia, MIM: 210250</li><li>T->K at 400: in dbSNP:rs4148217, MIM: 210250</li><li>R->H at 405: in sitosterolemia, MIM: 210250</li><li>L->P at 501: in sitosterolemia, MIM: 210250</li><li>R->S at 543: in sitosterolemia, MIM: 210250</li><li>Missing  at 570: in sitosterolemia, MIM: 210250</li><li>L->P at 572: in sitosterolemia, MIM: 210250</li><li>G->E at 574: in sitosterolemia, MIM: 210250</li><li>G->R at 574: in sitosterolemia: in dbSNP rsrs36209700, MIM: 210250</li><li>G->R at 575: in dbSNP rsrs36209700, MIM: 210250</li><li>L->R at 596: in sitosterolemia, MIM: 210250</li><li>V->A at 632: in dbSNP:rs6544718, MIM: 210250</li><li>Y->F at 641, MIM: 210250</li><li>M->V at 655: in dbSNP:rs9282573, MIM: 210250</li>								Sitosterolemia [MIM:210250]	<li>rs4148211</li><li>rs35518570</li><li>rs36209700</li><li>rs4148217</li><li>rs34754243</li><li>rs9282574</li><li>rs11887534</li><li>rs9282573</li><li>rs6544718</li>	2
Q9H222	64240		<li>R->C at 50: in dbSNP:rs6756629</li><li>E->Q at 146: in sitosterolemia, MIM: 210250</li><li>R->H at 389: in sitosterolemia, MIM: 210250</li><li>R->H at 419: in sitosterolemia, MIM: 210250</li><li>R->P at 419: in sitosterolemia, MIM: 210250</li><li>N->K at 437: in sitosterolemia, MIM: 210250</li><li>T->S at 517: in dbSNP:rs17031672, MIM: 210250</li><li>I->V at 523, MIM: 210250</li><li>R->S at 550: in sitosterolemia, MIM: 210250</li><li>C->Y at 600, MIM: 210250</li><li>Q->E at 604: in dbSNP:rs6720173, MIM: 210250</li><li>M->V at 622, MIM: 210250</li>								Sitosterolemia [MIM:210250]	<li>rs6756629</li><li>rs6720173</li><li>rs17031672</li>	2
Q9H223	30844		<li>V->I at 154: in dbSNP:rs11549015</li>									rs11549015	2
Q9H228	53637		<li>L->Q at 318: in dbSNP:rs35483143</li>									rs35483143	2
Q9H237	64840		<li>G->R at 60: in FDH, MIM: 305600</li><li>R->G at 365: in FDH, MIM: 305600</li>							<li>P79896</li><li>P11766</li><li>Q570B4</li><li>Q03134</li><li>P32771</li><li>O19053</li><li>P19854</li><li>P25437</li><li>P12711</li><li>P80467</li><li>Q9S7E4</li><li>P93629</li><li>P73138</li><li>P81600</li><li>P81601</li><li>Q07103</li><li>P33677</li><li>P72324</li><li>Q07511</li><li>P80360</li><li>Q96533</li><li>Q06099</li><li>P44557</li><li>O74685</li><li>P46415</li><li>P33160</li><li>O74540</li><li>P47734</li><li>P80572</li><li>P39450</li><li>Q17335</li><li>P46154</li><li>Q9ZRI8</li><li>P81431</li><li>P28474</li><li>P78870</li><li>P93436</li>	Focal dermal hypoplasia (FDH) [MIM:305600]		2
Q9H244	64805		<li>R->Q at 256: in bleeding disorder, MIM: 609821</li><li>R->W at 265: in bleeding disorder, MIM: 609821</li><li>E->G at 330: in dbSNP:rs16846673, MIM: 609821</li>								Bleeding disorder [MIM:609821]	rs16846673	2
Q9H251			<li>R->C at 3: in dbSNP:rs7902757</li><li>D->G at 124: in DFNB12, MIM: 601386</li><li>P->L at 240: in DFNB12, MIM: 601386</li><li>E->K at 247: in USH1D, MIM: 601067</li><li>R->Q at 301: in DFNB12, MIM: 601386</li><li>A->T at 366: in USH1D, MIM: 601067</li><li>N->S at 452: in DFNB12, MIM: 601386</li><li>L->Q at 480: in DFNB12, MIM: 601386</li><li>A->P at 484: in USH1D, MIM: 601067</li><li>G->A at 490: in dbSNP:rs1227049, MIM: 601067</li><li>S->N at 496: in dbSNP:rs10999947, MIM: 601067</li><li>R->Q at 582: in DFNB12, MIM: 601386</li><li>V->I at 746, MIM: 601386</li><li>H->Y at 755: in USH1D, MIM: 601067</li><li>S->G at 944, MIM: 601067</li><li>E->K at 960, MIM: 601067</li><li>D->N at 990: in DFNB12, MIM: 601386</li><li>R->W at 1060: in DFNB12, MIM: 601386</li><li>V->I at 1090: in USH1D, MIM: 601067</li><li>N->S at 1098: in USH1D; dbSNP:rs41281310, MIM: 601067</li><li>G->D at 1186: in DFNB12, MIM: 601386</li><li>P->R at 1206: in USH1D, MIM: 601067</li><li>T->A at 1209: in USH1D; dbSNP:rs41281314, MIM: 601067</li><li>A->T at 1222: in dbSNP:rs41281316, MIM: 601067</li><li>R->Q at 1236, MIM: 601067</li><li>Missing  at 1281: in USH1D, MIM: 601067</li><li>N->S at 1282, MIM: 601067</li><li>D->N at 1341: in DFNB12, MIM: 601386</li><li>R->C at 1349: in dbSNP:rs41281318, MIM: 601386</li><li>D->N at 1351: in dbSNP:rs1227065, MIM: 601386</li><li>R->W at 1417, MIM: 601386</li><li>R->Q at 1437: in dbSNP:rs56181447, MIM: 601386</li><li>Q->H at 1496: in USH1D, MIM: 601067</li><li>R->Q at 1507: in USH1D, MIM: 601067</li><li>I->M at 1520, MIM: 601067</li><li>M->T at 1574, MIM: 601067</li><li>T->A at 1575: in dbSNP:rs1227051, MIM: 601067</li><li>A->P at 1586: in DFNB12, MIM: 601386</li><li>E->K at 1595: in DFNB12, MIM: 601386</li><li>V->M at 1620: in dbSNP:rs41281330, MIM: 601386</li><li>T->S at 1671, MIM: 601386</li><li>V->I at 1675: in dbSNP:rs17712523, MIM: 601386</li><li>V->I at 1711, MIM: 601386</li><li>Q->P at 1716: in DFNB12, MIM: 601386</li><li>R->Q at 1746: in USH1D; mild retinal affection, MIM: 601067</li><li>P->L at 1788: in USH1D, MIM: 601067</li><li>R->Q at 1804: in dbSNP:rs3802711, MIM: 601067</li><li>V->M at 1807, MIM: 601067</li><li>D->N at 1846: in DFNB12, MIM: 601386</li><li>S->N at 1876, MIM: 601386</li><li>T->I at 1887, MIM: 601386</li><li>F->S at 1888: in DFNB12, MIM: 601386</li><li>V->I at 1908, MIM: 601386</li><li>R->W at 1912: in USH1D, MIM: 601067</li><li>D->N at 1930: in USH1D, MIM: 601067</li><li>T->S at 1999: in dbSNP:rs11592462, MIM: 601067</li><li>G->S at 2017: in USH1D; most likely affects splicing, MIM: 601067</li><li>R->W at 2029: in DFNB12, MIM: 601386</li><li>E->K at 2044: in dbSNP:rs10466026, MIM: 601386</li><li>D->N at 2045: in DFNB12, MIM: 601386</li><li>R->Q at 2066, MIM: 601386</li><li>I->M at 2125: in dbSNP:rs16929354, MIM: 601386</li><li>D->N at 2148: in DFNB12, MIM: 601386</li><li>R->C at 2171, MIM: 601386</li><li>D->N at 2202: in DFNB12, MIM: 601386</li><li>Q->P at 2227, MIM: 601386</li><li>V->I at 2283: in dbSNP:rs41281334, MIM: 601386</li><li>R->Q at 2358: in dbSNP:rs4747194, MIM: 601386</li><li>D->N at 2376: in dbSNP:rs9663920, MIM: 601386</li><li>D->V at 2376: in USH1D, MIM: 601067</li><li>P->L at 2380: in dbSNP:rs4747195, MIM: 601067</li><li>R->W at 2465: in DFNB12, MIM: 601386</li><li>L->P at 2473, MIM: 601386</li><li>R->H at 2489, MIM: 601386</li><li>S->G at 2517: in USH1D, MIM: 601067</li><li>T->I at 2530: in USH1D, MIM: 601067</li><li>E->Q at 2588: in dbSNP:rs41281338, MIM: 601067</li><li>R->H at 2608: in DFNB12, MIM: 601386</li><li>I->V at 2669, MIM: 601386</li><li>G->S at 2744: in USH1D; atypical, MIM: 601067</li><li>G->S at 2771: in USH1D, MIM: 601067</li><li>F->V at 2801: in dbSNP:rs3802707, MIM: 601067</li><li>R->G at 2833: in USH1D; atypical, MIM: 601067</li><li>A->Q at 2853: requires 2 nucleotide substitutions, MIM: 601067</li><li>V->E at 2933, MIM: 601067</li><li>I->N at 2950: in DFNB12, MIM: 601386</li><li>D->N at 2954, MIM: 601386</li><li>R->C at 2956: in DFNB12, MIM: 601386</li><li>N->S at 2962, MIM: 601386</li><li>V->A at 2968: in USH1D, MIM: 601067</li><li>P->T at 3059: in DFNB12, MIM: 601386</li><li>F->L at 3125: in dbSNP:rs45583140, MIM: 601386</li><li>R->C at 3175, MIM: 601386</li><li>R->H at 3175: in USH1D, MIM: 601067</li><li>R->W at 3189: in USH1D and USH1DF, MIM: 601067</li><li>S->F at 3245: in USH1D, MIM: 601067</li>								<li>Usher syndrome type 1D/F (USH1DF) [MIM:601067]</li><li>Usher syndrome type 1D (USH1D) [MIM:601067]</li><li>Non-syndromic sensorineural deafness autosomal recessive type 12 (DFNB12) [MIM:601386]</li>	<li>rs4747194</li><li>rs7902757</li><li>rs1227065</li><li>rs11592462</li><li>rs4747195</li><li>rs10466026</li><li>rs3802707</li><li>rs45583140</li><li>rs1227049</li><li>rs10999947</li><li>rs16929354</li><li>rs1227051</li><li>rs3802711</li><li>rs9663920</li><li>rs41281316</li><li>rs41281318</li><li>rs56181447</li><li>rs17712523</li><li>rs41281338</li><li>rs41281334</li><li>rs41281330</li>	2
Q9H252	81033		<li>G->R at 165: in dbSNP:rs35399062</li><li>T->M at 925: in dbSNP:rs35819807</li>									<li>rs35819807</li><li>rs35399062</li>	2
Q9H254	57731		<li>G->S at 1331: in dbSNP:rs814501</li>									rs814501	2
Q9H257	64170		<li>S->N at 12: in dbSNP:rs4077515</li>									rs4077515	2
Q9H267	26276		<li>L->P at 30: in ARC, MIM: 208085</li><li>S->G at 514: in dbSNP:rs11073964, MIM: 208085</li>								Arthrogryposis-renal dysfunction-cholestasis syndrome (ARC) [MIM:208085]	rs11073964	2
Q9H269	64601		<li>S->I at 637: in dbSNP:rs35773586</li>									rs35773586	2
Q9H295	81501		<li>D->G at 349: in dbSNP:rs3802204</li>									rs3802204	2
Q9H2A2	64577		<li>F->S at 402: in dbSNP:rs2294315</li>									rs2294315	2
Q9H2A7	58191		<li>I->T at 123</li><li>A->V at 181</li>										2
Q9H2A9	64377		<li>R->H at 247: in a colorectal cancer sample; somatic mutation</li>										2
Q9H2B2	6860		<li>S->N at 142: in dbSNP:rs16977447</li>									rs16977447	2
Q9H2B4	10861		<li>Q->R at 556: in dbSNP:rs3796622</li>									rs3796622	2
Q9H2C0	8139		<li>R->S at 15: in GAN; no effect on binding to TBCB, MIM: 256850</li><li>A->P at 51: in GAN, MIM: 256850</li><li>S->G at 52: in GAN, MIM: 256850</li><li>S->L at 79: in GAN, MIM: 256850</li><li>V->F at 82: in GAN; no effect on binding to TBCB, MIM: 256850</li><li>I->F at 86: in GAN, MIM: 256850</li><li>Y->C at 89: in GAN, MIM: 256850</li><li>R->H at 138: in GAN, MIM: 256850</li><li>V->F at 195: in GAN, MIM: 256850</li><li>R->Q at 269: in GAN, MIM: 256850</li><li>L->R at 309: in GAN, MIM: 256850</li><li>P->L at 315: in GAN, MIM: 256850</li><li>G->R at 368: in GAN, MIM: 256850</li><li>I->T at 423: in GAN, MIM: 256850</li><li>G->R at 474: in GAN, MIM: 256850</li><li>E->K at 486: in GAN, MIM: 256850</li><li>R->C at 545: in GAN; complete loss of binding to TBCB, MIM: 256850</li><li>R->H at 545: in GAN, MIM: 256850</li><li>C->Y at 570: in GAN, MIM: 256850</li>			binding	GO:0005488			Q9H2C0	Giant axonal neuropathy (GAN) [MIM:256850]		2
Q9H2C2	64801		<li>G->E at 101: in dbSNP:rs35764859</li>									rs35764859	2
Q9H2D1	81034		<li>R->H at 117: in dbSNP:rs17803441</li>									rs17803441	2
Q9H2D6	11078		<li>N->K at 863: in dbSNP:rs9610841</li><li>G->R at 1019: in DFNB28, MIM: 609823</li><li>E->D at 1372: in dbSNP:rs8140207, MIM: 609823</li><li>W->R at 1377: in dbSNP:rs8140958, MIM: 609823</li>								Non-syndromic sensorineural deafness autosomal recessive type 28 (DFNB28) [MIM:609823]	<li>rs8140207</li><li>rs9610841</li><li>rs8140958</li>	2
Q9H2E6	57556		<li>H->Y at 518: in dbSNP:rs34966</li><li>R->H at 559: in dbSNP:rs17432496</li><li>D->E at 567: in dbSNP:rs12516652</li>									<li>rs34966</li><li>rs12516652</li><li>rs17432496</li>	2
Q9H2F3	80270		<li>G->S at 19: in CBAS1, MIM: 607765</li><li>E->K at 147: in CBAS1; loss of activity, MIM: 607765</li><li>T->A at 250: in dbSNP:rs9938550, MIM: 607765</li><li>L->P at 347: in dbSNP:rs34212827, MIM: 607765</li>								Congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765]	<li>rs9938550</li><li>rs34212827</li>	2
Q9H2F9	80323		<li>V->A at 249: in dbSNP:rs34751112</li>									rs34751112	2
Q9H2G9	8548		<li>Q->R at 40: in dbSNP:rs1028180</li><li>R->Q at 196: in dbSNP:rs1064274</li>									<li>rs1064274</li><li>rs1028180</li>	2
Q9H2H8	53938		<li>D->E at 146: in dbSNP:rs7562391</li>									rs7562391	2
Q9H2I8	83938		<li>S->F at 153: in dbSNP:rs35349706</li>									rs35349706	2
Q9H2J7	55117		<li>A->V at 400: in dbSNP:rs12424429</li><li>I->M at 603: in dbSNP:rs3782369</li>									<li>rs3782369</li><li>rs12424429</li>	2
Q9H2K0	219402		<li>T->I at 68: in dbSNP:rs17857314</li><li>L->F at 243: in dbSNP:rs1218825</li>									<li>rs1218825</li><li>rs17857314</li>	2
Q9H2L4	85025		<li>V->G at 42: in dbSNP:rs34580932</li>									rs34580932	2
Q9H2L5	83937		<li>H->Y at 10: in dbSNP:rs34692238</li><li>R->G at 88: in dbSNP:rs870957</li>									<li>rs34692238</li><li>rs870957</li>	2
Q9H2M9	25782		<li>T->A at 863: in dbSNP:rs12045447</li><li>G->C at 1052: in Martsolf syndrome; may cause exon skipping, MIM: 212720</li><li>S->T at 1092: in dbSNP:rs2289189, MIM: 212720</li>								Martsolf syndrome [MIM:212720]	<li>rs12045447</li><li>rs2289189</li>	2
Q9H2N8			<li>R->C at 121: in dbSNP:rs3824534</li>									rs3824534	2
Q9H2R5	55554		<li>P->L at 134: in dbSNP:rs3212805</li><li>A->T at 137: in a breast cancer sample; somatic mutation</li>									rs3212805	2
Q9H2S5	80352		<li>S->P at 203: in dbSNP:rs2074479</li><li>A->T at 245: in dbSNP:rs2301752</li><li>D->N at 268: in dbSNP:rs1057539</li><li>A->E at 304: in dbSNP:rs2301753</li>									<li>rs2301753</li><li>rs2074479</li><li>rs2301752</li><li>rs1057539</li>	2
Q9H2U2	27068		<li>K->N at 282: in dbSNP:rs13787</li>									rs13787	2
Q9H2U9	8756		<li>E->Q at 25: in dbSNP:rs34852692</li><li>I->V at 205: in dbSNP:rs7829386</li><li>V->M at 244: in dbSNP:rs13255694</li><li>I->T at 453: in dbSNP:rs3736281</li><li>L->V at 570: in dbSNP:rs2307044</li><li>N->H at 638: in dbSNP:rs13259668</li><li>L->P at 735: in dbSNP:rs6980829</li>									<li>rs6980829</li><li>rs3736281</li><li>rs7829386</li><li>rs34852692</li><li>rs2307044</li><li>rs13255694</li><li>rs13259668</li>	2
Q9H2V7	83985		<li>A->P at 230: in dbSNP:rs17855956</li>									rs17855956	2
Q9H2W1	64231		<li>A->S at 183</li><li>T->S at 185: in dbSNP:rs7232</li>									rs7232	2
Q9H2W6	26589		<li>H->Y at 106: in dbSNP:rs16941888</li>									rs16941888	2
Q9H2X0	8646		<li>P->S at 94: in dbSNP:rs34095724</li><li>M->L at 630: in dbSNP:rs16858780</li>									<li>rs16858780</li><li>rs34095724</li>	2
Q9H2X3	10332		<li>R->Q at 164: in dbSNP:rs11465376</li><li>Y->C at 205: in dbSNP:rs479448</li><li>Y->C at 251: in dbSNP:rs479448</li><li>D->N at 291: in dbSNP:rs2277998</li>									<li>rs2277998</li><li>rs479448</li><li>rs11465376</li>	2
Q9H2X9	57468		<li>P->A at 407: in dbSNP:rs16985442</li><li>G->D at 847: in a colorectal cancer sample; somatic mutation</li><li>P->L at 1100: in dbSNP:rs17297532</li>									<li>rs17297532</li><li>rs16985442</li>	2
Q9H2Y7	64397		<li>W->R at 103: in dbSNP:rs12440118</li><li>I->T at 646: in dbSNP:rs12101559</li><li>M->V at 656: in dbSNP:rs34792942</li><li>P->T at 1162: in dbSNP:rs34983340</li>									<li>rs34983340</li><li>rs12440118</li><li>rs34792942</li><li>rs12101559</li>	2
Q9H2Y9	81796		<li>L->F at 33: in dbSNP:rs3750266</li>									rs3750266	2
Q9H306	64066		<li>R->W at 22: in dbSNP:rs12099177</li><li>M->T at 24: in dbSNP:rs1939015</li><li>V->M at 30: in dbSNP:rs2846707</li><li>E->V at 266: in dbSNP:rs1276286</li><li>W->L at 304: in dbSNP:rs35616217</li><li>D->N at 447: in dbSNP:rs2509010</li><li>I->V at 477: in dbSNP:rs35822551</li>									<li>rs1276286</li><li>rs2509010</li><li>rs1939015</li><li>rs35616217</li><li>rs12099177</li><li>rs2846707</li><li>rs35822551</li>	2
Q9H321	425054		<li>K->T at 15: in dbSNP:rs5934423</li>									rs5934423	2
Q9H322	51480		<li>A->G at 70: in dbSNP:rs41309545</li><li>L->P at 104: in dbSNP:rs41305169</li><li>V->L at 110: in dbSNP:rs1058237</li><li>S->T at 138: in dbSNP:rs1058239</li>									<li>rs41305169</li><li>rs1058237</li><li>rs1058239</li><li>rs41309545</li>	2
Q9H329	54566		<li>N->T at 816: in dbSNP:rs3750450</li>									rs3750450	2
Q9H336	83690		<li>A->S at 286: in dbSNP:rs1945</li>									rs1945	2
Q9H339	282763		<li>S->G at 5: in dbSNP:rs11036913</li><li>I->T at 102: in dbSNP:rs11036912</li><li>V->I at 154: in dbSNP:rs12273630</li><li>P->L at 160: in dbSNP:rs4910551</li><li>L->F at 220: in dbSNP:rs7120319</li>									<li>rs7120319</li><li>rs12273630</li><li>rs4910551</li><li>rs11036913</li><li>rs11036912</li>	2
Q9H340	390058		<li>K->T at 5: in dbSNP:rs4910755</li><li>N->S at 40: in dbSNP:rs4910756</li><li>I->T at 90: in dbSNP:rs7483122</li><li>T->A at 123: in dbSNP:rs5006889</li><li>T->I at 131: in dbSNP:rs5006887</li><li>R->G at 145: in dbSNP:rs5006886</li><li>S->A at 169: in dbSNP:rs5006885</li><li>L->F at 172: in dbSNP:rs5006884</li><li>F->L at 192: in dbSNP:rs5006883</li><li>V->L at 254: in dbSNP:rs7106330</li><li>S->R at 275: in dbSNP:rs5024042</li>									<li>rs5024042</li><li>rs7106330</li><li>rs5006884</li><li>rs5006885</li><li>rs5006883</li><li>rs7483122</li><li>rs5006889</li><li>rs5006886</li><li>rs4910755</li><li>rs5006887</li><li>rs4910756</li>	2
Q9H342			<li>C->Y at 100</li>										2
Q9H343	390063		<li>R->H at 124: in dbSNP:rs16930982</li><li>V->L at 164: in dbSNP:rs11037445</li><li>A->S at 252: in dbSNP:rs1498486</li>									<li>rs1498486</li><li>rs11037445</li><li>rs16930982</li>	2
Q9H344	390064		<li>R->C at 122: in dbSNP:rs10450603</li><li>T->A at 134: in dbSNP:rs12577167</li><li>R->P at 151: in dbSNP:rs16931292</li><li>R->H at 263: in dbSNP:rs11037502</li>									<li>rs11037502</li><li>rs10450603</li><li>rs16931292</li><li>rs12577167</li>	2
Q9H346	390066		<li>R->C at 154: in dbSNP:rs7935144</li><li>D->E at 213: in dbSNP:rs7924754</li><li>Y->F at 221: in dbSNP:rs7950082</li><li>I->T at 251: in dbSNP:rs7101919</li><li>R->W at 304: in dbSNP:rs11037758</li>									<li>rs7935144</li><li>rs7924754</li><li>rs11037758</li><li>rs7950082</li><li>rs7101919</li>	2
Q9H347	50613		<li>C->R at 255: in dbSNP:rs2234446</li><li>N->D at 285: in dbSNP:rs2234449</li><li>T->A at 287: in dbSNP:rs2234450</li><li>T->S at 290: in dbSNP:rs2234451</li><li>M->T at 546: in dbSNP:rs2234455</li><li>R->Q at 624: in dbSNP:rs2227271</li>									<li>rs2227271</li><li>rs2234455</li><li>rs2234446</li><li>rs2234449</li><li>rs2234451</li><li>rs2234450</li>	2
Q9H3E2	83891		<li>E->K at 318: in dbSNP:rs35700132</li><li>I->V at 586: in dbSNP:rs3756275</li><li>T->I at 725: in dbSNP:rs34120554</li>									<li>rs34120554</li><li>rs35700132</li><li>rs3756275</li>	2
Q9H3G5	54504		<li>S->L at 11: in dbSNP:rs36074676</li><li>R->H at 25: in dbSNP:rs34219043</li><li>R->H at 398: in dbSNP:rs1052200</li><li>A->V at 435: in dbSNP:rs7313</li>									<li>rs36074676</li><li>rs34219043</li><li>rs7313</li><li>rs1052200</li>	2
Q9H3H1	54802		<li>F->L at 202: in dbSNP:rs3738671</li>									rs3738671	2
Q9H3H5	1798		<li>M->I at 9: in a breast cancer sample; somatic mutation</li><li>Y->C at 170: in CDG1J: in dbSNP rsrs28934876, MIM: 608093</li><li>I->V at 393: in dbSNP:rs643788, MIM: 608093</li>								Congenital disorder of glycosylation type 1J (CDG1J) [MIM:608093]	<li>rs28934876</li><li>rs643788</li>	2
Q9H3H9	140597		<li>D->G at 19: in dbSNP:rs34924423</li><li>G->A at 68: in dbSNP:rs5944856</li>									<li>rs34924423</li><li>rs5944856</li>	2
Q9H3J6	91574		<li>A->T at 134: in dbSNP:rs1045496</li>									rs1045496	2
Q9H3L0	27249		<li>S->SLAEPLS at 108: in MMADHC; cblD variant 2</li><li>T->N at 182: in MMADHC; cblD variant 1, MIM: 277410</li><li>Missing  at 204-232: in MMADHC; cblD original, MIM: 277410</li><li>Y->C at 249: in MMADHC; cblD variant 1, MIM: 277410</li><li>L->P at 259: in MMADHC; cblD variant 1, MIM: 277410</li>								Methylmalonic aciduria and homocystinuria type cblD (MMADHC) [MIM:277410]		2
Q9H3M7	10628		<li>R->Q at 177: in dbSNP:rs6674773</li>									rs6674773	2
Q9H3M9	92552		<li>L->F at 266: in dbSNP:rs16999010</li><li>G->D at 332: in dbSNP:rs4830842</li>									<li>rs16999010</li><li>rs4830842</li>	2
Q9H3N8	59340		<li>A->V at 138: in dbSNP:rs11665084</li><li>H->R at 206: in dbSNP:rs11662595</li>									<li>rs11662595</li><li>rs11665084</li>	2
Q9H3P7	64746		<li>E->D at 187: in dbSNP:rs2306120</li>									rs2306120	2
Q9H3Q3	64090		<li>M->L at 4: in dbSNP:rs12469459</li>									rs12469459	2
Q9H3R0	23081		<li>E->D at 206: in dbSNP:rs7864351</li><li>D->N at 396: in dbSNP:rs2296067</li><li>S->T at 492: in dbSNP:rs35826653</li><li>N->S at 697: in dbSNP:rs35389625</li><li>Q->E at 767: in dbSNP:rs1407856</li><li>K->R at 772: in dbSNP:rs1417290</li><li>V->I at 1039: in dbSNP:rs913588</li>									<li>rs913588</li><li>rs1417290</li><li>rs35389625</li><li>rs1407856</li><li>rs2296067</li><li>rs35826653</li><li>rs7864351</li>	2
Q9H3R5	64946		<li>E->K at 2: in a colorectal cancer sample; somatic mutation</li>										2
Q9H3S1	64218		<li>D->H at 345: in RP35 and CORD10; heterozygous compound with C-350, MIM: 610282</li><li>F->C at 350: in RP35 and CORD10; heterozygous compound with H-345, MIM: 610282</li><li>R->Q at 510: in dbSNP:rs2075164, MIM: 610282</li><li>R->Q at 713: in RP35; also in a patient with congenital blindness: in dbSNP rsrs41265017, MIM: 610282</li>								<li>Cone-rod dystrophy type 10 (CORD10) [MIM:610283]</li><li>Retinitis pigmentosa type 35 (RP35) [MIM:610282]</li>	<li>rs2075164</li><li>rs41265017</li>	2
Q9H3S3			<li>D->V at 31: in deafness; sporadic case</li><li>R->Q at 46: in dbSNP:rs11601425</li><li>V->M at 125: in dbSNP:rs7939917</li><li>A->V at 249</li><li>A->S at 317: in deafness; sporadic case; no detectable proteolytic activity in a yeast-based protease assay</li><li>P->S at 337</li><li>F->L at 369: common polymorphism; reduced proteolytic activity in a yeast-based protease assay; dbSNP:rs7110736</li>							<li>P19028</li><li>Q9QBZ5</li><li>P24107</li><li>Q9QBZ1</li><li>Q79666</li><li>P15833</li><li>P03362</li><li>P18042</li><li>Q8AII1</li><li>P03363</li><li>P04024</li><li>P04023</li><li>P10978</li><li>O93215</li><li>P26810</li><li>Q1A249</li><li>P03356</li><li>P03355</li><li>O41798</li><li>P20892</li><li>Q9Y6I0</li><li>P10210</li><li>Q9QBY3</li><li>P03353</li><li>P16901</li><li>Q74120</li><li>Q09SZ9</li><li>Q89928</li><li>Q73368</li><li>P84454</li><li>Q9WC63</li><li>P20825</li><li>Q9IDV9</li><li>P0C211</li><li>P0C210</li><li>P51518</li><li>Q4U0X6</li><li>P12451</li><li>P07570</li><li>P28936</li><li>O89940</li><li>P24740</li><li>P26809</li><li>P26808</li><li>Q0R5R3</li><li>Q0R5R2</li><li>P18802</li><li>P10394</li><li>P19561</li><li>P16423</li><li>P63119</li><li>P19560</li><li>Q75002</li><li>P04589</li><li>P04587</li><li>P04588</li><li>Q9QSR3</li><li>O91080</li><li>P16046</li><li>P17757</li><li>P12497</li><li>P12499</li><li>P12498</li><li>P03311</li><li>P20875</li><li>P20876</li><li>P10273</li><li>Q9WC54</li><li>P10272</li><li>P10271</li><li>P10270</li><li>P19199</li><li>P05962</li><li>P18096</li><li>P10265</li><li>P04584</li><li>P11227</li><li>P04585</li><li>Q76634</li><li>Q8I7P9</li><li>Q9Q720</li><li>P14078</li><li>P31822</li><li>P11365</li><li>P35963</li><li>P14074</li><li>P05959</li><li>P63131</li><li>P04323</li><li>P10274</li><li>P21407</li><li>O89290</li><li>P35956</li><li>P05960</li><li>P05961</li><li>Q1A267</li><li>P63122</li><li>P63123</li><li>P63124</li><li>P63125</li><li>P63120</li><li>P63121</li><li>P03366</li><li>P03367</li><li>P03369</li><li>P63127</li><li>P63128</li><li>P63129</li><li>Q77373</li><li>P03370</li><li>P27502</li><li>P21414</li>		<li>rs11601425</li><li>rs7939917</li>	2
Q9H3S7	25930		<li>A->T at 944: in dbSNP:rs6780013</li><li>P->S at 1099: in a lung cancer cell line; may be a common polymorphism</li>									rs6780013	2
Q9H3T2	10500		<li>P->T at 455: in dbSNP:rs4971007</li>									rs4971007	2
Q9H3U5	64747		<li>P->S at 24: in dbSNP:rs28364680</li><li>K->E at 168: in dbSNP:rs17854200</li><li>I->V at 220: in dbSNP:rs3765083</li>									<li>rs3765083</li><li>rs17854200</li><li>rs28364680</li>	2
Q9H3V2	64232		<li>L->R at 123: in a colorectal cancer sample; somatic mutation</li>										2
Q9H3W5	54674		<li>D->G at 24: in dbSNP:rs9942557</li>									rs9942557	2
Q9H3Y0	140902		<li>F->C at 15: in dbSNP:rs11699901</li><li>D->N at 68: in dbSNP:rs36117710</li>									<li>rs11699901</li><li>rs36117710</li>	2
Q9H3Y6	6725		<li>R->C at 73: in dbSNP rsrs56053583</li><li>G->R at 75: in dbSNP rsrs55863722</li><li>I->V at 88: in dbSNP:rs35558836</li><li>P->L at 218: in dbSNP:rs378483</li><li>V->M at 255: in dbSNP:rs34969822</li><li>V->L at 301: in dbSNP:rs310657</li><li>P->L at 325: in dbSNP:rs8122355</li><li>D->E at 377: in dbSNP rsrs55838540</li><li>A->V at 397: in dbSNP rsrs6011889</li><li>P->L at 452: in dbSNP:rs8120713</li><li>A->T at 453: in dbSNP:rs310655</li><li>V->L at 457: in dbSNP:rs310654</li><li>S->T at 465: in dbSNP:rs33933649</li>									<li>rs35558836</li><li>rs34969822</li><li>rs8120713</li><li>rs8122355</li><li>rs378483</li><li>rs33933649</li><li>rs6011889</li><li>rs55838540</li><li>rs310654</li><li>rs310655</li><li>rs56053583</li><li>rs55863722</li><li>rs310657</li>	2
Q9H3Z7	140701		<li>L->Q at 10: in dbSNP:rs2281534</li>									rs2281534	2
Q9H422	10114		<li>Q->R at 142: in dbSNP rsrs34193811</li><li>G->E at 170: in dbSNP rsrs34698015</li><li>C->R at 191: in dbSNP rsrs35689361</li><li>V->I at 474: in dbSNP:rs266472</li><li>S->N at 500: in dbSNP:rs11032229</li><li>P->L at 729: in dbSNP rsrs55807239</li>									<li>rs34193811</li><li>rs266472</li><li>rs11032229</li><li>rs55807239</li><li>rs35689361</li><li>rs34698015</li>	2
Q9H425	84886		<li>A->S at 274: in dbSNP:rs34864456</li><li>K->R at 306: in dbSNP:rs35115679</li>									<li>rs35115679</li><li>rs34864456</li>	2
Q9H444	128866		<li>D->V at 129: in CTPP3, MIM: 605387</li><li>E->K at 161: in CTPP3, MIM: 605387</li>								Posterior polar cataract type 3 (CTPP3) [MIM:605387]		2
Q9H488	23509		<li>L->F at 322: in dbSNP:rs17268666</li><li>D->N at 348: in dbSNP:rs35259534</li>									<li>rs35259534</li><li>rs17268666</li>	2
Q9H489			<li>P->H at 246: in dbSNP:rs3813922</li>									rs3813922	2
Q9H493			<li>A->V at 32: in dbSNP:rs2277767</li>									rs2277767	2
Q9H497	64222		<li>F->L at 13: in dbSNP:rs2296377</li>									rs2296377	2
Q9H4A3	65125		<li>A->T at 141: in dbSNP rsrs11554421</li><li>A->V at 149: in dbSNP rsrs34880640</li><li>E->Q at 419: in a breast pleomorphic lobular carcinoma sample; somatic mutation</li><li>I->T at 509: in dbSNP rsrs34728563</li><li>D->G at 527: in dbSNP rsrs34408667</li><li>T->I at 665: in dbSNP:rs2286007</li><li>T->A at 674: in dbSNP rsrs11833299</li><li>H->R at 823: in dbSNP rsrs56015776</li><li>E->G at 1199: in a colorectal cancer sample; somatic mutation</li><li>A->V at 1546: in dbSNP rsrs56351358</li><li>Q->E at 1799: in breast cancer samples; infiltrating ductal carcinoma; somatic mutation</li><li>I->M at 1808: in dbSNP rsrs12828016</li><li>P->L at 1823: in dbSNP rsrs17755373</li><li>R->H at 1957: in dbSNP rsrs36083875</li><li>S->C at 2190: in a breast pleomorphic lobular carcinoma sample; somatic mutation</li><li>F->L at 2362: in a lung adenocarcinoma sample; somatic mutation</li><li>R->W at 2380: in dbSNP rsrs56262445</li>									<li>rs17755373</li><li>rs2286007</li><li>rs34728563</li><li>rs36083875</li><li>rs34880640</li><li>rs12828016</li><li>rs56015776</li><li>rs56262445</li><li>rs56351358</li><li>rs11833299</li><li>rs11554421</li><li>rs34408667</li>	2
Q9H4A4	6051		<li>V->I at 579: in dbSNP:rs3820439</li>									rs3820439	2
Q9H4A9	64174		<li>H->D at 468: in dbSNP:rs1133090</li>									rs1133090	2
Q9H4B0	64172		<li>A->P at 229: in dbSNP:rs3749014</li>									rs3749014	2
Q9H4B4	1263		<li>T->S at 61: in dbSNP:rs17884581</li><li>L->F at 68: in dbSNP:rs17884316</li><li>L->F at 283: in dbSNP:rs17880471</li><li>R->C at 483: in dbSNP:rs17884653</li><li>S->L at 498: in dbSNP:rs17880829</li><li>S->P at 618: in dbSNP:rs17881786</li>									<li>rs17884581</li><li>rs17881786</li><li>rs17884653</li><li>rs17880471</li><li>rs17884316</li><li>rs17880829</li>	2
Q9H4B6	60485		<li>A->D at 185: in a colon cancer cell line</li>										2
Q9H4B7	81027		<li>Q->H at 43: in dbSNP:rs415064</li><li>Q->P at 43: in dbSNP:rs463312</li><li>T->M at 274: in dbSNP:rs35565630</li><li>R->H at 307: in dbSNP:rs6070697</li>									<li>rs415064</li><li>rs463312</li><li>rs35565630</li><li>rs6070697</li>	2
Q9H4D0	64084		<li>S->I at 193: in a colorectal cancer sample; somatic mutation</li><li>I->V at 366: in dbSNP:rs7632885</li><li>R->Q at 765: in a colorectal cancer sample; somatic mutation</li>									rs7632885	2
Q9H4F8	64093		<li>V->M at 82: in dbSNP:rs10150925</li>									rs10150925	2
Q9H4G1	128821		<li>H->P at 109: in dbSNP:rs2295564</li>									rs2295564	2
Q9H4I2	23051		<li>N->S at 310: in dbSNP:rs17265513</li>									rs17265513	2
Q9H4I8	253190		<li>E->K at 3: in dbSNP:rs3213549</li><li>S->N at 46: in dbSNP:rs926333</li><li>C->R at 306: in dbSNP:rs137055</li>									<li>rs926333</li><li>rs137055</li><li>rs3213549</li>	2
Q9H4I9	91689		<li>R->G at 46: in dbSNP:rs17852210</li>									rs17852210	2
Q9H4K1	26150		<li>R->C at 180: in dbSNP:rs2142661</li><li>F->L at 195: in dbSNP:rs1022478</li><li>R->Q at 262: in dbSNP:rs2072770</li>									<li>rs1022478</li><li>rs2072770</li><li>rs2142661</li>	2
Q9H4K7	26164		<li>G->S at 47: in dbSNP:rs6062133</li><li>H->R at 93: in dbSNP:rs11700220</li><li>A->V at 337: in dbSNP:rs35693261</li>									<li>rs6062133</li><li>rs35693261</li><li>rs11700220</li>	2
Q9H4L4	26168		<li>W->R at 515: in dbSNP:rs9972914</li>									rs9972914	2
Q9H4L5	26031		<li>M->V at 354: in dbSNP:rs11768296</li>									rs11768296	2
Q9H4L7	56916		<li>S->F at 66: in dbSNP:rs11723410</li><li>L->F at 135: in dbSNP:rs2664891</li><li>R->C at 140: in dbSNP:rs2632398</li><li>S->Y at 245: in dbSNP:rs3103117</li><li>S->N at 247: in dbSNP:rs11722476</li><li>A->V at 301: in dbSNP:rs7439869</li><li>P->Q at 351: in dbSNP:rs17854344</li><li>V->A at 972: in dbSNP:rs17857297</li>									<li>rs17857297</li><li>rs17854344</li><li>rs7439869</li><li>rs2632398</li><li>rs2664891</li><li>rs3103117</li><li>rs11722476</li><li>rs11723410</li>	2
Q9H4T2	80345		<li>R->Q at 137: in a colorectal cancer sample; somatic mutation</li>										2
Q9H4Y5	119391		<li>C->Y at 130: in dbSNP:rs45582439</li><li>N->D at 142: in dbSNP:rs156697</li>									<li>rs45582439</li><li>rs156697</li>	2
Q9H4Z2	63925		<li>R->C at 65: in dbSNP:rs6130982</li><li>G->S at 101: in dbSNP:rs6094231</li><li>S->T at 294: in dbSNP:rs6032606</li><li>Y->H at 603: in dbSNP:rs16990961</li>									<li>rs16990961</li><li>rs6032606</li><li>rs6094231</li><li>rs6130982</li>	2
Q9H501	51575		<li>P->L at 386: in dbSNP:rs6079171</li><li>I->T at 550: in dbSNP:rs3180370</li><li>I->L at 824: in dbSNP:rs34414644</li>									<li>rs6079171</li><li>rs34414644</li><li>rs3180370</li>	2
Q9H503	140836		<li>N->D at 3: in dbSNP:rs4814640</li><li>T->S at 78: in dbSNP:rs1053993</li>									<li>rs1053993</li><li>rs4814640</li>	2
Q9H511	401265		<li>N->S at 11: in dbSNP:rs6908377</li><li>V->I at 156: in dbSNP:rs3799260</li><li>A->T at 508: in dbSNP:rs3799261</li>									<li>rs3799260</li><li>rs3799261</li><li>rs6908377</li>	2
Q9H553	85365		<li>S->P at 11: in dbSNP:rs11545137</li><li>V->A at 367: in dbSNP:rs35626507</li>									<li>rs11545137</li><li>rs35626507</li>	2
Q9H568	81569		<li>A->S at 3: in dbSNP:rs694214</li><li>R->C at 245: in dbSNP:rs3795322</li>									<li>rs3795322</li><li>rs694214</li>	2
Q9H582	84146		<li>E->Q at 53: in a breast cancer sample; somatic mutation</li><li>M->V at 556: in dbSNP:rs17131242</li><li>A->V at 794: in dbSNP:rs10922938</li>									<li>rs17131242</li><li>rs10922938</li>	2
Q9H583	55127		<li>H->R at 348: in dbSNP:rs2794751</li><li>M->V at 607: in dbSNP:rs2794763</li><li>D->G at 957: in dbSNP:rs16833953</li><li>Y->C at 1433: in dbSNP:rs653737</li><li>S->N at 1559: in dbSNP:rs6661946</li><li>R->H at 1654: in dbSNP:rs16833884</li><li>N->S at 1694: in dbSNP:rs2275689</li><li>V->A at 1854: in dbSNP:rs1885533</li><li>N->D at 1967: in dbSNP:rs1126627</li><li>E->G at 2017: in dbSNP:rs2275687</li><li>S->L at 2077: in dbSNP:rs6664730</li>									<li>rs1885533</li><li>rs6664730</li><li>rs1126627</li><li>rs2275687</li><li>rs6661946</li><li>rs16833884</li><li>rs2794751</li><li>rs16833953</li><li>rs2794763</li><li>rs2275689</li><li>rs653737</li>	2
Q9H596	63904		<li>R->C at 167: in a colorectal cancer sample; somatic mutation</li><li>M->T at 186: in dbSNP:rs1045031</li>									rs1045031	2
Q9H598	140679		<li>S->G at 423: in dbSNP:rs34517228</li>									rs34517228	2
Q9H5F2	64776		<li>V->A at 40: in dbSNP:rs9280</li><li>K->Q at 49: in dbSNP:rs11540721</li><li>Q->H at 85: in dbSNP:rs3180820</li>									<li>rs9280</li><li>rs3180820</li><li>rs11540721</li>	2
Q9H5H4	79724		<li>E->D at 181: in dbSNP:rs10871453</li><li>A->S at 488: in dbSNP:rs3751848</li>									<li>rs3751848</li><li>rs10871453</li>	2
Q9H5I1	79723		<li>D->H at 383: in a breast cancer sample; somatic mutation</li>										2
Q9H5I5	63895		<li>V->I at 255: in dbSNP:rs3748428</li>									rs3748428	2
Q9H5J0	79842		<li>H->L at 424: in a breast cancer sample; somatic mutation</li><li>S->F at 455: in a breast cancer sample; somatic mutation</li><li>I->M at 574: in dbSNP:rs544641</li>									rs544641	2
Q9H5K3	84197		<li>S->P at 48: in dbSNP rsrs34466747</li><li>Y->F at 140: in dbSNP rsrs34750053</li><li>V->M at 254: in dbSNP rsrs34715198</li><li>M->T at 301: in dbSNP rsrs33920561</li><li>M->I at 342: in a lung small cell carcinoma sample; somatic mutation</li>									<li>rs34750053</li><li>rs33920561</li><li>rs34466747</li><li>rs34715198</li>	2
Q9H5L6	79725		<li>M->I at 284: in dbSNP:rs1031639</li><li>L->F at 299: in dbSNP:rs897945</li><li>N->D at 812: in dbSNP:rs6535411</li>									<li>rs897945</li><li>rs6535411</li><li>rs1031639</li>	2
Q9H5U6	29063		<li>P->L at 382: in dbSNP:rs3752873</li><li>L->H at 396: in dbSNP:rs315675</li>									<li>rs315675</li><li>rs3752873</li>	2
Q9H5Y7	84189		<li>L->F at 25: in dbSNP:rs12863734</li><li>P->R at 315: in dbSNP:rs9547378</li><li>Q->R at 414: in dbSNP:rs17080147</li>									<li>rs9547378</li><li>rs12863734</li><li>rs17080147</li>	2
Q9H5Z1	60625		<li>I->T at 189: in dbSNP:rs36053162</li><li>P->L at 703: in dbSNP:rs3752302</li>									<li>rs3752302</li><li>rs36053162</li>	2
Q9H607	79629		<li>R->L at 42: in dbSNP:rs10425488</li><li>A->G at 109: in dbSNP:rs891203</li>									<li>rs10425488</li><li>rs891203</li>	2
Q9H609	79177		<li>P->L at 81: in dbSNP:rs17849705</li>									rs17849705	2
Q9H628	79785		<li>M->V at 163: in dbSNP:rs941048</li>									rs941048	2
Q9H633	79897		<li>Q->H at 77: in dbSNP:rs6986</li><li>Q->K at 149: in dbSNP:rs974963</li>									<li>rs6986</li><li>rs974963</li>	2
Q9H649	63899		<li>A->V at 295: in dbSNP:rs17854922</li>									rs17854922	2
Q9H665	79713		<li>W->R at 189: in dbSNP:rs34562867</li>									rs34562867	2
Q9H668	79991		<li>T->A at 151: in dbSNP:rs2487999</li><li>S->C at 248: in dbSNP:rs10786775</li>									<li>rs2487999</li><li>rs10786775</li>	2
Q9H694	80114		<li>G->D at 8: in dbSNP:rs7905025</li><li>S->P at 943: in dbSNP:rs4948550</li>									<li>rs7905025</li><li>rs4948550</li>	2
Q9H6A0	79961		<li>S->N at 282: in dbSNP:rs35742969</li>									rs35742969	2
Q9H6A9	399909		<li>Q->R at 258: in dbSNP:rs1151489</li><li>S->C at 458: in dbSNP:rs1193851</li><li>K->N at 813: in dbSNP:rs1144790</li>									<li>rs1144790</li><li>rs1193851</li><li>rs1151489</li>	2
Q9H6B1	79750		<li>A->T at 386: in a colorectal cancer sample; somatic mutation</li><li>H->Q at 387: in a colorectal cancer sample; somatic mutation</li>										2
Q9H6B4	79827		<li>R->H at 69: in dbSNP:rs2276348</li>									rs2276348	2
Q9H6E5	64852		<li>L->F at 442: in dbSNP:rs3197865</li>									rs3197865	2
Q9H6F5	79080		<li>Q->H at 153: in dbSNP:rs2074421</li>									rs2074421	2
Q9H6K4	80207		<li>G->S at 93: in OPA3, MIM: 165300</li><li>Q->E at 105: in OPA3, MIM: 165300</li>							Q9H6K4	Optic atrophy type 3 (OPA3) [MIM:165300]		2
Q9H6L2	79583		<li>L->V at 6: in dbSNP rsrs3743601</li>									rs3743601	2
Q9H6L5	54463		<li>Q->E at 379: in dbSNP:rs34432513</li>									rs34432513	2
Q9H6Q4	64428		<li>V->M at 38: in dbSNP:rs8045850</li><li>H->R at 444: in dbSNP:rs7188554</li>									<li>rs7188554</li><li>rs8045850</li>	2
Q9H6R4	65083		<li>P->S at 52: in dbSNP:rs10971523</li><li>R->W at 723: in dbSNP:rs35135082</li>									<li>rs10971523</li><li>rs35135082</li>	2
Q9H6R6	64429		<li>D->N at 41: in dbSNP:rs34350728</li>									rs34350728	2
Q9H6R7	80304		<li>T->M at 102: in dbSNP:rs3731620</li><li>P->S at 454: in a breast cancer sample; somatic mutation</li>									rs3731620	2
Q9H6T0	80004		<li>S->L at 111: in dbSNP:rs12597504</li><li>A->V at 528: in dbSNP:rs3743738</li>									<li>rs3743738</li><li>rs12597504</li>	2
Q9H6U8	79796		<li>A->P at 232: in dbSNP:rs36111204</li><li>S->L at 255: in dbSNP:rs17113312</li><li>Y->C at 287: in CDG1L; impairs activity, MIM: 608776</li><li>V->I at 289: in dbSNP:rs10502151, MIM: 608776</li><li>P->L at 506, MIM: 608776</li><li>E->K at 523: in CDG1L; impairs activity, MIM: 608776</li><li>I->S at 528: in dbSNP:rs12575909, MIM: 608776</li>								Congenital disorder of glycosylation type 1L (CDG1L) [MIM:608776]	<li>rs10502151</li><li>rs12575909</li><li>rs17113312</li><li>rs36111204</li>	2
Q9H6X2	84168		<li>R->K at 7: in dbSNP:rs28365986</li>									rs28365986	2
Q9H6Y2	54853		<li>R->C at 50: in dbSNP:rs34342435</li><li>R->C at 151: in dbSNP:rs2530245</li><li>S->F at 210: in dbSNP:rs2286394</li><li>Y->C at 235: in dbSNP:rs35983033</li>									<li>rs2286394</li><li>rs35983033</li><li>rs2530245</li><li>rs34342435</li>	2
Q9H6Y5	79917		<li>R->H at 53: in dbSNP:rs5906744</li><li>H->R at 112: in dbSNP:rs5906744</li><li>V->L at 173: in dbSNP:rs5905720</li><li>F->L at 323: in dbSNP:rs4824462</li>									<li>rs5905720</li><li>rs4824462</li><li>rs5906744</li>	2
Q9H6Z4	8498		<li>A->V at 314: in dbSNP:rs10417885</li>									rs10417885	2
Q9H706	64762		<li>T->N at 243: in dbSNP:rs671138</li><li>K->R at 291: in dbSNP:rs3744921</li><li>A->V at 490: in dbSNP:rs16962974</li><li>V->I at 580: in dbSNP:rs3891458</li><li>T->M at 720: in dbSNP:rs2276374</li>									<li>rs671138</li><li>rs3891458</li><li>rs3744921</li><li>rs2276374</li><li>rs16962974</li>	2
Q9H707	79818		<li>W->C at 242: in dbSNP:rs2288538</li>									rs2288538	2
Q9H714	80183		<li>G->R at 152: in dbSNP:rs1408184</li>									rs1408184	2
Q9H720	80157		<li>T->P at 2: in dbSNP:rs3747690</li><li>N->H at 689: in dbSNP:rs1051447</li>									<li>rs3747690</li><li>rs1051447</li>	2
Q9H741	79794		<li>Q->R at 55: in dbSNP:rs10507274</li>									rs10507274	2
Q9H772	64388		<li>V->I at 131: in dbSNP:rs34188522</li>									rs34188522	2
Q9H777	55520		<li>M->V at 355: in dbSNP rsrs34524743</li>									rs34524743	2
Q9H788	63898		<li>E->G at 209: in dbSNP:rs35647122</li><li>E->G at 216: in dbSNP:rs4921637</li><li>G->A at 263: in dbSNP:rs877386</li><li>S->N at 275: in dbSNP:rs34608771</li>									<li>rs34608771</li><li>rs4921637</li><li>rs35647122</li><li>rs877386</li>	2
Q9H790	64789		<li>D->N at 115: in dbSNP:rs1134586</li><li>G->V at 172: in dbSNP:rs11208299</li>									<li>rs11208299</li><li>rs1134586</li>	2
Q9H792	79834		<li>G->R at 213: in dbSNP rsrs35459975</li><li>V->I at 240: in dbSNP rsrs56129428</li><li>S->P at 440: in dbSNP rsrs35335169</li><li>H->Q at 611: in a bladder carcinoma NOS sample; somatic mutation</li><li>S->I at 792: in dbSNP rsrs34885462</li><li>D->E at 836: in dbSNP rsrs56388121</li><li>S->F at 1035: in a metastatic melanoma sample; somatic mutation</li><li>R->K at 1071: in dbSNP rsrs12909704</li><li>T->P at 1077: in dbSNP rsrs56133554</li><li>P->L at 1145: in a metastatic melanoma sample; somatic mutation</li><li>P->Q at 1408: in dbSNP rsrs56079860</li><li>S->T at 1542: in dbSNP rsrs1867780</li><li>R->G at 1699: in dbSNP rsrs34004337</li>							<li>O61608</li><li>O61309</li><li>O54705</li><li>Q26240</li><li>Q28969</li><li>Q9I9M2</li>		<li>rs1867780</li><li>rs56133554</li><li>rs56129428</li><li>rs35459975</li><li>rs34004337</li><li>rs56079860</li><li>rs34885462</li><li>rs56388121</li><li>rs12909704</li><li>rs35335169</li>	2
Q9H799	65250		<li>I->T at 318: in dbSNP:rs6859950</li><li>F->C at 913: in dbSNP:rs10076911</li><li>I->V at 1023: in dbSNP:rs6884652</li><li>P->L at 1472: in dbSNP:rs16903518</li><li>G->R at 1960: in dbSNP:rs7702892</li>									<li>rs7702892</li><li>rs10076911</li><li>rs6859950</li><li>rs6884652</li><li>rs16903518</li>	2
Q9H7B2	84154		<li>A->G at 41: in dbSNP:rs9320350</li><li>G->S at 60: in dbSNP:rs6909298</li>									<li>rs9320350</li><li>rs6909298</li>	2
Q9H7B7	80099		<li>E->K at 32: in dbSNP:rs9719534</li>									rs9719534	2
Q9H7C9	28971		<li>V->M at 92: in dbSNP:rs2186564</li>									rs2186564	2
Q9H7D0	80005		<li>Q->R at 250: in dbSNP:rs17053341</li><li>Q->R at 1023: in dbSNP:rs2271111</li><li>K->R at 1285: in dbSNP:rs2659585</li><li>E->K at 1836: in dbSNP:rs35688737</li>									<li>rs2659585</li><li>rs2271111</li><li>rs17053341</li><li>rs35688737</li>	2
Q9H7H0	64745		<li>G->A at 289: in dbSNP:rs2297717</li><li>A->P at 346: in dbSNP:rs2771350</li>									<li>rs2297717</li><li>rs2771350</li>	2
Q9H7M9	64115		<li>E->D at 187: in dbSNP:rs3747869</li>									rs3747869	2
Q9H7N4	58506		<li>T->A at 895: in dbSNP:rs3745470</li><li>M->T at 1146: in dbSNP:rs2304208</li>									<li>rs3745470</li><li>rs2304208</li>	2
Q9H7P9	64857		<li>T->I at 540: in dbSNP:rs35904695</li><li>I->V at 622: in dbSNP:rs16973407</li><li>R->H at 647: in dbSNP:rs10407035</li><li>K->R at 992: in dbSNP:rs31726</li><li>A->T at 1302: in dbSNP:rs34603507</li><li>A->P at 1329: in dbSNP:rs31728</li>									<li>rs35904695</li><li>rs34603507</li><li>rs10407035</li><li>rs16973407</li><li>rs31728</li><li>rs31726</li>	2
Q9H7R0	79973		<li>I->V at 93: in dbSNP:rs10423273</li><li>P->T at 110: in dbSNP:rs10415207</li><li>P->S at 152: in a colorectal cancer sample; somatic mutation; dbSNP:rs10414971</li><li>C->S at 243: in a colorectal cancer sample; somatic mutation</li><li>G->R at 422: in dbSNP:rs11085808</li><li>R->C at 443: in dbSNP:rs10500210</li>									<li>rs10414971</li><li>rs11085808</li><li>rs10423273</li><li>rs10500210</li><li>rs10415207</li>	2
Q9H7R5			<li>A->V at 19: in dbSNP:rs12460170</li><li>R->H at 92: in dbSNP:rs4801959</li><li>I->V at 582: in dbSNP:rs4801958</li>									<li>rs4801959</li><li>rs4801958</li><li>rs12460170</li>	2
Q9H7T9	79000		<li>K->T at 82: in dbSNP:rs34449716</li>									rs34449716	2
Q9H7U1	54462		<li>N->S at 84: in dbSNP:rs3814205</li><li>C->Y at 755: in dbSNP:rs11201058</li><li>S->P at 819: in dbSNP:rs11557865</li><li>P->S at 821: in dbSNP:rs12569751</li>									<li>rs11557865</li><li>rs12569751</li><li>rs11201058</li><li>rs3814205</li>	2
Q9H7V2	79953		<li>G->R at 54: in dbSNP:rs6083553</li>									rs6083553	2
Q9H7Y0	79742		<li>R->K at 128: in dbSNP:rs1132201</li><li>R->Q at 146: in dbSNP:rs9969</li>									<li>rs1132201</li><li>rs9969</li>	2
Q9H813	55248		<li>K->N at 336: in a breast cancer sample; somatic mutation</li>										2
Q9H814	51808		<li>R->C at 82: in dbSNP:rs3734173</li>									rs3734173	2
Q9H816	64858		<li>R->L at 46: in dbSNP:rs28381069</li><li>H->Y at 61: in dbSNP:rs11552449</li><li>D->N at 462: in dbSNP:rs28381079</li><li>N->Y at 510: in dbSNP:rs35397235</li>									<li>rs28381079</li><li>rs28381069</li><li>rs35397235</li><li>rs11552449</li>	2
Q9H845	28976		<li>R->Q at 477: in dbSNP:rs4494951</li>									rs4494951	2
Q9H857	64943		<li>S->R at 91: in dbSNP:rs35920544</li>									rs35920544	2
Q9H869	55249		<li>G->S at 412: in dbSNP:rs35098429</li><li>E->Q at 786: in dbSNP:rs7539</li>									<li>rs7539</li><li>rs35098429</li>	2
Q9H875	79706		<li>S->A at 7: in dbSNP:rs6951185</li><li>D->Y at 106: in dbSNP:rs11556160</li>									<li>rs6951185</li><li>rs11556160</li>	2
Q9H892	54970		<li>L->M at 73: in dbSNP:rs723077</li><li>M->L at 468: in dbSNP:rs35852218</li>									<li>rs723077</li><li>rs35852218</li>	2
Q9H898	79698		<li>T->A at 201: in dbSNP:rs17851751</li>									rs17851751	2
Q9H8E8	57325		<li>P->L at 214: in dbSNP:rs6081011</li><li>G->V at 400: in dbSNP:rs1205193</li><li>R->T at 442: in dbSNP:rs2295182</li><li>P->R at 600: in dbSNP:rs11557577</li><li>A->S at 738: in dbSNP:rs6081027</li>									<li>rs1205193</li><li>rs6081027</li><li>rs2295182</li><li>rs11557577</li><li>rs6081011</li>	2
Q9H8H0	25926		<li>V->A at 115: in dbSNP:rs2291284</li>									rs2291284	2
Q9H8H2	64794		<li>E->K at 153: in dbSNP:rs17402080</li><li>R->Q at 687: in dbSNP:rs34246652</li><li>I->V at 799: in dbSNP:rs306547</li><li>R->Q at 843: in dbSNP:rs306548</li>									<li>rs17402080</li><li>rs306548</li><li>rs306547</li><li>rs34246652</li>	2
Q9H8H3	25840		<li>A->T at 134: in dbSNP:rs28372674</li>									rs28372674	2
Q9H8J5	54682		<li>V->I at 55: in dbSNP:rs3741798</li><li>D->N at 165: in dbSNP:rs17375215</li><li>N->Y at 375: in dbSNP:rs3741803</li>									<li>rs3741798</li><li>rs17375215</li><li>rs3741803</li>	2
Q9H8L6	79812		<li>S->G at 49: in dbSNP:rs3750823</li><li>V->M at 448: in a colorectal cancer sample; somatic mutation</li><li>D->H at 731: in dbSNP:rs4934281</li><li>S->R at 831: in dbSNP:rs36073867</li><li>V->L at 910: in dbSNP:rs34587013</li>									<li>rs36073867</li><li>rs34587013</li><li>rs4934281</li><li>rs3750823</li>	2
Q9H8M1	80219		<li>L->F at 48: in dbSNP:rs34946819</li>									rs34946819	2
Q9H8M2	65980		<li>A->T at 170: in dbSNP:rs34292369</li><li>A->T at 293: in dbSNP:rs414349</li>									<li>rs414349</li><li>rs34292369</li>	2
Q9H8M9	84141		<li>R->H at 150: in dbSNP:rs11126472</li>									rs11126472	2
Q9H8V3	1894		<li>S->T at 15: in dbSNP:rs34703432</li><li>T->P at 802: in a breast cancer sample; somatic mutation</li>									rs34703432	2
Q9H8W5	80263		<li>R->Q at 353: in dbSNP:rs34863850</li><li>C->Y at 375: in dbSNP:rs749902</li><li>R->Q at 413: in dbSNP:rs3738413</li><li>M->T at 496: in dbSNP:rs1289658</li>									<li>rs1289658</li><li>rs34863850</li><li>rs749902</li><li>rs3738413</li>	2
Q9H8X2	64768		<li>R->W at 277: in dbSNP:rs2277168</li><li>L->F at 376: in dbSNP:rs2277170</li>									<li>rs2277168</li><li>rs2277170</li>	2
Q9H8X3			<li>S->C at 27: in dbSNP:rs6926145</li><li>W->R at 91: in dbSNP:rs1078211</li><li>K->R at 119: in dbSNP:rs1078208</li>									<li>rs6926145</li><li>rs1078211</li><li>rs1078208</li>	2
Q9H8X9	79844		<li>L->S at 325: in dbSNP:rs2878468</li><li>R->Q at 341: in dbSNP:rs1809008</li><li>R->H at 372: in dbSNP:rs3747738</li>									<li>rs3747738</li><li>rs2878468</li><li>rs1809008</li>	2
Q9H8Y1	55237		<li>L->F at 53: in dbSNP:rs2232032</li><li>V->M at 133: in a colorectal cancer sample; somatic mutation</li>									rs2232032	2
Q9H8Y5	55139		<li>R->W at 569: in dbSNP:rs2293076</li><li>P->L at 676: in dbSNP:rs2293079</li>									<li>rs2293079</li><li>rs2293076</li>	2
Q9H900	55055		<li>S->G at 344: in dbSNP:rs11071896</li>									rs11071896	2
Q9H902	65055		<li>A->E at 20: in SPG31, MIM: 610250</li>								Spastic paraplegia autosomal dominant type 31 (SPG31) [MIM:610250]		2
Q9H936	79751		<li>P->L at 206: in EIEE3, MIM: 609304</li>								Early infantile epileptic encephalopathy type 3 (EIEE3) [MIM:609304]		2
Q9H943	79741		<li>A->G at 388: in dbSNP:rs4448627</li><li>M->T at 510: in dbSNP:rs2504011</li><li>I->V at 607: in dbSNP:rs1418538</li>									<li>rs1418538</li><li>rs4448627</li><li>rs2504011</li>	2
Q9H967	79968		<li>A->S at 153: in dbSNP:rs678084</li><li>S->G at 614: in dbSNP:rs3742985</li>									<li>rs3742985</li><li>rs678084</li>	2
Q9H972	60686		<li>A->V at 190: in dbSNP:rs3829409</li>									rs3829409	2
Q9H981	93973		<li>T->I at 56: in dbSNP:rs3733082</li>									rs3733082	2
Q9H987	79933		<li>P->L at 707: in dbSNP:rs3812629</li><li>S->Y at 833: in dbSNP:rs34163229</li>									<li>rs3812629</li><li>rs34163229</li>	2
Q9H992	64844		<li>T->S at 100: in dbSNP:rs17813964</li><li>T->I at 193: in dbSNP:rs16844275</li><li>G->S at 379: in dbSNP:rs13024801</li>									<li>rs13024801</li><li>rs16844275</li><li>rs17813964</li>	2
Q9H993	79624		<li>K->N at 73: in dbSNP:rs35036943</li><li>P->R at 77: in dbSNP:rs17850732</li><li>G->E at 150: in dbSNP:rs35734927</li><li>S->A at 154: in dbSNP:rs34437617</li><li>H->P at 161: in dbSNP:rs36037706</li><li>I->V at 264: in dbSNP:rs35989216</li><li>A->T at 317: in dbSNP:rs35972078</li>									<li>rs36037706</li><li>rs34437617</li><li>rs35734927</li><li>rs35989216</li><li>rs35972078</li><li>rs17850732</li><li>rs35036943</li>	2
Q9H9A5	25904		<li>T->S at 348: in dbSNP:rs11558687</li><li>P->S at 736: in dbSNP:rs17849684</li>									<li>rs17849684</li><li>rs11558687</li>	2
Q9H9A6	55631		<li>Q->P at 53: in dbSNP:rs270495</li><li>I->V at 500: in dbSNP:rs3180401</li>									<li>rs3180401</li><li>rs270495</li>	2
Q9H9A7	80010		<li>Y->H at 100: in dbSNP:rs17855932</li><li>S->N at 455: in dbSNP:rs1982151</li>									<li>rs1982151</li><li>rs17855932</li>	2
Q9H9B1	79813		<li>A->V at 12: in a breast cancer sample; somatic mutation</li><li>A->T at 357: in dbSNP:rs11137198</li><li>Y->F at 1142: in a breast cancer sample; somatic mutation</li>									rs11137198	2
Q9H9B4	94081		<li>N->S at 26: in dbSNP:rs17065105</li><li>P->S at 266: in dbSNP:rs34907038</li>									<li>rs17065105</li><li>rs34907038</li>	2
Q9H9D4	79797		<li>R->P at 337: in dbSNP:rs36017347</li>									rs36017347	2
Q9H9F9	79913		<li>R->L at 298: in dbSNP:rs17853829</li><li>I->L at 461: in dbSNP:rs35805905</li><li>I->V at 483: in dbSNP:rs2245231</li><li>P->L at 580: in dbSNP:rs3752289</li>									<li>rs3752289</li><li>rs35805905</li><li>rs17853829</li><li>rs2245231</li>	2
Q9H9J2	65080		<li>T->I at 138: in dbSNP:rs11546406</li>									rs11546406	2
Q9H9L3	81875		<li>N->S at 130: in dbSNP:rs3795737</li>									rs3795737	2
Q9H9L4	54934		<li>N->S at 313: in dbSNP:rs17238800</li><li>T->P at 445: in dbSNP:rs3741628</li>									<li>rs17238800</li><li>rs3741628</li>	2
Q9H9P5	64718		<li>R->Q at 152: in dbSNP:rs35080336</li>									rs35080336	2
Q9H9P8	79944		<li>R->L at 18: in dbSNP:rs2275591</li><li>G->D at 55: in L2HGA, MIM: 236792</li><li>G->R at 57: in L2HGA, MIM: 236792</li><li>K->E at 81: in L2HGA; alters protein processing and abolishes catalytic activity, MIM: 236792</li><li>H->R at 98: in L2HGA, MIM: 236792</li><li>H->Y at 98: in L2HGA, MIM: 236792</li><li>E->D at 176: in L2HGA; alters protein processing and abolishes catalytic activity, MIM: 236792</li><li>Y->F at 178, MIM: 236792</li><li>P->L at 302: in L2HGA, MIM: 236792</li><li>H->P at 434: in L2HGA, MIM: 236792</li>	protein processing	GO:0016485	catalytic activity	GO:0003824				L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]	rs2275591	2
Q9H9Q4	79840		<li>A->T at 14: in dbSNP:rs34689457</li><li>R->G at 57: in NHEJ1-SCID; fails to translocate to the nucleus, MIM: 611291</li><li>H->R at 89: in dbSNP:rs1056296, MIM: 611291</li><li>C->R at 123: in NHEJ1-SCID, MIM: 611291</li><li>Q->L at 256: in dbSNP:rs35270667, MIM: 611291</li>					nucleus	GO:0005634	Q9H9Q4	Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID) [MIM:611291]	<li>rs35270667</li><li>rs1056296</li><li>rs34689457</li>	2
Q9H9S0	79923		<li>K->N at 82: in dbSNP:rs2889551</li>									rs2889551	2
Q9H9S5	79147		<li>R->W at 54: in LGMD2I: in dbSNP rsrs28937905, MIM: 607155</li><li>A->G at 114: in MDC1C; could be a polymorphism, MIM: 606612</li><li>Missing  at 143-146: in LGMD2I, MIM: 606612</li><li>R->S at 143: in LGMD2I, MIM: 607155</li><li>P->T at 217: in MDC1C, MIM: 606612</li><li>S->R at 221: in MDC1C; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI: in dbSNP rsrs28937902, MIM: 606612</li><li>L->I at 276: in LGMD2I: in dbSNP rsrs28937900, MIM: 607155</li><li>Y->N at 307: in LGMD2I and MEB, MIM: 253280</li><li>Y->C at 309: in MDC1C, MIM: 606612</li><li>R->C at 312: in LGMD2I, MIM: 607155</li><li>P->T at 315: in MDC1C; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI: in dbSNP rsrs28937901, MIM: 606612</li><li>P->R at 316: in MDC1C and LGMD2I, MIM: 607155</li><li>P->S at 316: in LGMD2I, MIM: 607155</li><li>C->Y at 318: in WWS, MIM: 236670</li><li>Y->S at 328: in MDC1C, MIM: 606612</li><li>R->H at 339: in MDC1C, MIM: 606612</li><li>R->L at 339: in LGMD2I, MIM: 607155</li><li>D->N at 360: in LGMD2I, MIM: 607155</li><li>D->N at 401: in MDC1C, MIM: 606612</li><li>V->L at 405: in MDC1C; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI: in dbSNP rsrs28937904, MIM: 606612</li><li>P->L at 448: in MDC1C, MIM: 606612</li><li>A->D at 455: in MDC1C; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI: in dbSNP rsrs28937903, MIM: 606612</li><li>P->S at 462: in LGMD2I, MIM: 607155</li><li>Y->S at 465: in MDC1C, MIM: 606612</li>								<li>Muscle-eye-brain disease (MEB) [MIM:253280]</li><li>Congenital muscular dystrophy type 1C (MDC1C) [MIM:606612]</li><li>Walker-Warburg syndrome (WWS) [MIM:236670]</li><li>Limb-girdle muscular dystrophy type 2I (LGMD2I) [MIM:607155]</li>	<li>rs28937905</li><li>rs28937900</li><li>rs28937901</li><li>rs28937902</li><li>rs28937903</li><li>rs28937904</li>	2
Q9H9V9	65094		<li>A->V at 11: in dbSNP:rs7419238</li><li>G->C at 16: in dbSNP:rs34560898</li><li>D->E at 65: in dbSNP:rs2295994</li><li>A->V at 461: in dbSNP:rs3087908</li>									<li>rs3087908</li><li>rs2295994</li><li>rs7419238</li><li>rs34560898</li>	2
Q9H9Y2	80135		<li>S->G at 9: in dbSNP:rs2292191</li><li>M->I at 223: in dbSNP:rs7528067</li>									<li>rs7528067</li><li>rs2292191</li>	2
Q9H9Y4	54707		<li>Q->R at 227: in dbSNP:rs17856257</li><li>R->G at 264: in dbSNP:rs3170660</li>									<li>rs3170660</li><li>rs17856257</li>	2
Q9H9Y6	84172		<li>S->L at 295: in dbSNP:rs1545133</li>									rs1545133	2
Q9HA64	79672		<li>A->V at 57: in dbSNP:rs3748811</li>									rs3748811	2
Q9HA65	79735		<li>P->L at 99: in dbSNP:rs3745486</li>									rs3745486	2
Q9HA72	51063		<li>V->G at 136: in dbSNP:rs2232660</li><li>V->M at 194: in dbSNP:rs2232662</li>									<li>rs2232660</li><li>rs2232662</li>	2
Q9HA77	79587		<li>E->K at 440: in dbSNP:rs965189</li><li>Q->P at 555: in dbSNP:rs1043886</li>									<li>rs1043886</li><li>rs965189</li>	2
Q9HA82	79603		<li>R->Q at 119: in dbSNP:rs17159388</li><li>G->S at 301: in dbSNP:rs2288413</li><li>A->T at 366: in dbSNP:rs36259</li>									<li>rs2288413</li><li>rs36259</li><li>rs17159388</li>	2
Q9HA90	79825		<li>R->Q at 91: in dbSNP:rs3732430</li>									rs3732430	2
Q9HA92	55316		<li>A->T at 119: in dbSNP:rs2290862</li><li>L->S at 126: in dbSNP:rs2290861</li>									<li>rs2290861</li><li>rs2290862</li>	2
Q9HAD4	55255		<li>G->D at 61: in dbSNP:rs389319</li><li>R->C at 260: in dbSNP:rs17751013</li><li>V->I at 329: in dbSNP:rs33204</li>									<li>rs33204</li><li>rs389319</li><li>rs17751013</li>	2
Q9HAH1	80032		<li>R->C at 137: in dbSNP:rs10421121</li><li>R->L at 146: in dbSNP:rs35499960</li><li>A->T at 353: in dbSNP:rs35296337</li><li>E->K at 428: in dbSNP:rs35494032</li>									<li>rs35494032</li><li>rs35499960</li><li>rs10421121</li><li>rs35296337</li>	2
Q9HAK2	64641		<li>G->S at 559: in dbSNP:rs17054477</li>									rs17054477	2
Q9HAQ2	64147		<li>V->I at 78: in dbSNP:rs2270569</li><li>G->A at 96: in dbSNP:rs3733092</li><li>W->R at 638: in dbSNP:rs2276853</li>									<li>rs2270569</li><li>rs2276853</li><li>rs3733092</li>	2
Q9HAS3	64078		<li>R->K at 4: in dbSNP rsrs11568401</li><li>S->N at 5: in dbSNP:rs45530932</li><li>D->H at 62: in dbSNP rsrs45621433</li><li>R->K at 67: in dbSNP rsrs11568411</li><li>Y->C at 113: in dbSNP:rs10868138</li><li>L->F at 131</li><li>P->Q at 221: in dbSNP:rs11140503</li><li>I->V at 328: in dbSNP:rs11568418</li><li>R->Q at 349: in dbSNP rsrs45525131</li><li>G->R at 367: reduced transport of inosine and thymidine: in dbSNP rsrs11568388</li><li>L->I at 418: in dbSNP rsrs11568405</li><li>Y->F at 513: in dbSNP rsrs56350726</li><li>R->H at 585: in dbSNP rsrs11568398</li><li>C->R at 602: lower concentrative capacity and altered sodium binding capacity</li>	transport	GO:0006810	binding	GO:0005488					<li>rs11568388</li><li>rs11568398</li><li>rs11568411</li><li>rs10868138</li><li>rs11568401</li><li>rs11568405</li><li>rs45525131</li><li>rs45621433</li><li>rs56350726</li><li>rs11568418</li><li>rs11140503</li><li>rs45530932</li>	2
Q9HAT1	79748		<li>R->Q at 105: in dbSNP:rs3803568</li><li>R->S at 517: in dbSNP:rs1060480</li>									<li>rs3803568</li><li>rs1060480</li>	2
Q9HAT2	54414		<li>K->R at 71: in dbSNP:rs12282107</li><li>A->V at 467: in dbSNP:rs7941523</li>									<li>rs12282107</li><li>rs7941523</li>	2
Q9HAU8	57140		<li>V->M at 247: in a colorectal cancer sample; somatic mutation</li>										2
Q9HAV4	57510		<li>S->N at 241: in dbSNP:rs34324334</li><li>K->N at 610: in dbSNP:rs12173786</li>									<li>rs34324334</li><li>rs12173786</li>	2
Q9HAW7	54577		<li>N->K at 129: in allele UGT1A7*2 and allele UGT1A7*3; dbSNP:rs17868323</li><li>R->K at 131: in allele UGT1A7*2 and allele UGT1A7*3</li><li>R->Q at 131: in dbSNP:rs17868324</li><li>W->R at 208: in allele UGT1A7*3 and allele UGT1A7*4; dbSNP:rs11692021</li>							<li>Q62452</li><li>Q9HAW7</li><li>Q64633</li>		<li>rs11692021</li><li>rs17868323</li><li>rs17868324</li>	2
Q9HAW8	54575		<li>M->I at 59: in dbSNP rsrs56935833</li><li>E->K at 139: in dbSNP:rs10187694</li><li>T->I at 202: in dbSNP rsrs58704432</li><li>L->I at 244: in dbSNP:rs28969685</li>									<li>rs58704432</li><li>rs10187694</li><li>rs56935833</li><li>rs28969685</li>	2
Q9HAW9	54576		<li>H->N at 53: in dbSNP:rs45504099</li><li>K->R at 132</li><li>G->A at 154</li><li>A->G at 173: in allele UGT1A8*2; dbSNP:rs1042597</li><li>T->A at 202</li><li>M->L at 212</li><li>C->Y at 277: in allele UGT1A8*3; dramatic reduction in catalytic activity; dbSNP:rs17863762</li>			catalytic activity	GO:0003824			<li>Q64634</li><li>Q9HAW9</li>		<li>rs1042597</li><li>rs17863762</li><li>rs45504099</li>	2
Q9HAY6	53630		<li>R->S at 267: in dbSNP:rs12934922</li><li>A->V at 379: in dbSNP:rs7501331</li>									<li>rs7501331</li><li>rs12934922</li>	2
Q9HAZ2	63976		<li>P->S at 533: in dbSNP:rs870124</li><li>P->L at 633: in dbSNP:rs2493292</li>									<li>rs870124</li><li>rs2493292</li>	2
Q9HB09	83596		<li>G->V at 47: in dbSNP:rs2060263</li>									rs2060263	2
Q9HB14	56659		<li>G->R at 305: in dbSNP:rs3814848</li><li>G->A at 389: in dbSNP:rs35909577</li>									<li>rs35909577</li><li>rs3814848</li>	2
Q9HB29	8808		<li>I->T at 237: in dbSNP:rs13405631</li><li>V->I at 352: in dbSNP:rs33946385</li><li>L->P at 550: in dbSNP:rs2302612</li>									<li>rs2302612</li><li>rs33946385</li><li>rs13405631</li>	2
Q9HB31			<li>S->L at 212: in dbSNP:rs9910163</li>									rs9910163	2
Q9HB40	59342		<li>L->V at 3: in dbSNP:rs34108204</li><li>V->I at 241: in dbSNP:rs16957938</li>									<li>rs16957938</li><li>rs34108204</li>	2
Q9HB55	64816		<li>YGTHSHKLFKKLGIP at 25-88: in allele CYP3A43*2: in dbSNP rsrs61469810</li><li>T->A at 27: in dbSNP:rs45558032</li><li>Missing  at 89-503: in allele CYP3A43*2</li><li>M->I at 145: in dbSNP:rs45450092</li><li>M->I at 275: in dbSNP:rs45621431</li><li>P->A at 340: in allele CYP3A43*3; dbSNP:rs680055</li>							Q9HB55		<li>rs45450092</li><li>rs45558032</li><li>rs61469810</li><li>rs45621431</li><li>rs680055</li>	2
Q9HB58	3431		<li>M->T at 8: in a breast cancer sample; somatic mutation</li><li>W->R at 112: in dbSNP:rs1129411</li><li>A->V at 128: in dbSNP:rs11556887</li><li>S->L at 173: in dbSNP:rs41552315</li><li>A->V at 206: in dbSNP:rs28930679</li><li>E->K at 207: in dbSNP:rs9061</li><li>S->A at 210: in dbSNP:rs1063154</li><li>E->G at 212: in dbSNP:rs1047254</li><li>M->V at 249: in dbSNP:rs3769838</li><li>E->G at 267: in dbSNP:rs1129425</li><li>R->G at 299: in dbSNP:rs1365776</li><li>T->M at 367: in dbSNP rsrs59573011</li><li>L->S at 425: polymorphism; may be associated with increased susceptibility to tuberculosis; dbSNP:rs3948464</li><li>M->T at 523: in dbSNP:rs1135791</li><li>M->I at 579: in dbSNP:rs3948463</li><li>G->S at 683: in a breast cancer sample; somatic mutation</li>									<li>rs1047254</li><li>rs1129425</li><li>rs1129411</li><li>rs11556887</li><li>rs59573011</li><li>rs41552315</li><li>rs9061</li><li>rs3769838</li><li>rs3948464</li><li>rs3948463</li><li>rs1063154</li><li>rs28930679</li><li>rs1365776</li><li>rs1135791</li>	2
Q9HB63	59277		<li>Y->H at 205: in dbSNP:rs17288108</li>									rs17288108	2
Q9HB65	80237		<li>Q->E at 11: in dbSNP:rs2277531</li><li>W->R at 140: in dbSNP:rs35454865</li>									<li>rs2277531</li><li>rs35454865</li>	2
Q9HB75	55367		<li>Q->R at 331: in dbSNP:rs10902221</li>									rs10902221	2
Q9HB96	2178		<li>R->L at 89: in dbSNP rsrs45600543</li><li>P->Q at 184: in FA; uncertain pathological significance, MIM: 227650</li><li>S->L at 204: in dbSNP:rs7761870, MIM: 227650</li><li>G->R at 340: in dbSNP rsrs45524646, MIM: 227650</li><li>R->Q at 343: in dbSNP rsrs45467798, MIM: 227650</li><li>A->T at 502: in dbSNP:rs9462088, MIM: 227650</li>								Fanconi anemia (FA) [MIM:227650]	<li>rs45524646</li><li>rs45600543</li><li>rs45467798</li><li>rs7761870</li><li>rs9462088</li>	2
Q9HBB8	53841		<li>S->R at 357: in dbSNP:rs2246614</li><li>D->N at 389: in dbSNP:rs2306066</li>									<li>rs2246614</li><li>rs2306066</li>	2
Q9HBE1	23598		<li>E->D at 685: in dbSNP:rs2240424</li>									rs2240424	2
Q9HBE5	50615		<li>R->C at 191: in dbSNP:rs3093370</li><li>S->R at 318: in dbSNP:rs3093385</li><li>G->S at 484: in dbSNP:rs3093386</li>									<li>rs3093370</li><li>rs3093385</li><li>rs3093386</li>	2
Q9HBF5			<li>L->P at 57: in dbSNP:rs7257</li>									rs7257	2
Q9HBG4			<li>A->V at 2: in dbSNP:rs10258719</li><li>G->D at 175: in RTADR, MIM: 602722</li><li>Missing  at 237: in RTADR, MIM: 602722</li><li>R->H at 449: in RTADR, MIM: 602722</li><li>P->L at 524: in RTADR, MIM: 602722</li><li>M->T at 580: in RTADR; dbSNP:rs3807153, MIM: 602722</li><li>R->Q at 807: in RTADR, MIM: 602722</li><li>G->R at 820: in RTADR, MIM: 602722</li>								Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722]	rs10258719	2
Q9HBG7	4063		<li>M->V at 602: in dbSNP:rs509749</li>									rs509749	2
Q9HBH7	55859		<li>V->L at 9: in dbSNP:rs3174500</li><li>S->N at 11: in dbSNP:rs1045058</li><li>S->I at 13: in dbSNP:rs1045061</li><li>M->V at 14: in dbSNP:rs1045063</li><li>A->V at 17: in dbSNP:rs1045065</li><li>A->V at 40: in dbSNP:rs709036</li><li>M->I at 66: in dbSNP:rs1045082</li>									<li>rs3174500</li><li>rs1045061</li><li>rs1045065</li><li>rs1045082</li><li>rs1045063</li><li>rs1045058</li><li>rs709036</li>	2
Q9HBI1	29780		<li>P->R at 52: in dbSNP:rs34476853</li><li>V->A at 58: in dbSNP:rs1983609</li>									<li>rs34476853</li><li>rs1983609</li>	2
Q9HBJ7	57663		<li>N->S at 368: in dbSNP:rs1027392</li><li>E->K at 586: in dbSNP:rs3795003</li>									<li>rs1027392</li><li>rs3795003</li>	2
Q9HBK9	57412		<li>R->W at 173: rare polymorphism; frequency in African-Americans 0.008; not detected in Caucasian-Americans; enzyme activity is 31% of wild-type; dbSNP:rs35232887</li><li>M->T at 287: common polymorphism; frequency in African-Americans 0.108 and Caucasian-Americans 0.100; enzyme activity is 350% of wild-type; dbSNP:rs11191439</li><li>T->I at 306: rare polymorphism; frequency in Caucasian-Americans 0.008; not detected in African-Americans; dbSNP:rs34556438</li>									<li>rs11191439</li><li>rs34556438</li><li>rs35232887</li>	2
Q9HBL0	7145		<li>I->M at 311: in dbSNP:rs11680854</li><li>R->C at 466: in dbSNP:rs3815849</li><li>T->I at 528: in dbSNP:rs3796033</li><li>R->W at 1004: in dbSNP:rs3796028</li><li>F->L at 1093: in a breast cancer sample; somatic mutation</li><li>W->R at 1197: in dbSNP:rs2571445</li><li>V->I at 1604: in dbSNP:rs918949</li>									<li>rs918949</li><li>rs2571445</li><li>rs3815849</li><li>rs11680854</li><li>rs3796028</li><li>rs3796033</li>	2
Q9HBL6	57408		<li>E->K at 43: in dbSNP:rs3806633</li><li>L->V at 117: in dbSNP:rs35540470</li>									<li>rs3806633</li><li>rs35540470</li>	2
Q9HBL8	57407		<li>T->I at 23: in dbSNP:rs11557236</li><li>P->L at 252: in dbSNP:rs3747582</li>									<li>rs11557236</li><li>rs3747582</li>	2
Q9HBM0	55591		<li>T->A at 162: in dbSNP:rs17855933</li><li>V->I at 496: in dbSNP:rs10507051</li><li>V->M at 612: in dbSNP:rs17344738</li><li>S->A at 668: in dbSNP:rs17855934</li><li>G->D at 762: in dbSNP:rs14121</li>									<li>rs14121</li><li>rs17344738</li><li>rs10507051</li><li>rs17855934</li><li>rs17855933</li>	2
Q9HBQ8	55592		<li>A->V at 110: in dbSNP:rs12370675</li>									rs12370675	2
Q9HBR0	124565		<li>K->R at 559: in dbSNP:rs35546507</li><li>A->G at 831: in dbSNP:rs2725405</li>									<li>rs35546507</li><li>rs2725405</li>	2
Q9HBT6	28316		<li>M->I at 228: in a breast cancer sample; somatic mutation</li><li>P->H at 328: in dbSNP:rs1943330</li><li>Q->R at 371: in dbSNP:rs35923922</li><li>P->L at 391: in dbSNP:rs17068463</li><li>P->T at 416: in a breast cancer sample; somatic mutation</li><li>Q->H at 746: in a breast cancer sample; somatic mutation</li>									<li>rs35923922</li><li>rs1943330</li><li>rs17068463</li>	2
Q9HBT7			<li>K->T at 274: in dbSNP:rs7224723</li>									rs7224723	2
Q9HBT8	57335		<li>Y->H at 90: in dbSNP:rs3760299</li>									rs3760299	2
Q9HBU1	56033		<li>A->T at 48</li>										2
Q9HBU9	64091		<li>V->I at 29: in dbSNP:rs4688023</li>									rs4688023	2
Q9HBV1	64208		<li>R->Q at 106: in dbSNP:rs11961225</li>									rs11961225	2
Q9HBV2	81833		<li>L->S at 237: in dbSNP:rs2276089</li>									rs2276089	2
Q9HBW1	64101		<li>T->A at 579: in a colorectal cancer sample; somatic mutation</li>										2
Q9HBW9	64123		<li>V->L at 300: in dbSNP:rs12754818</li><li>H->Q at 599: in dbSNP:rs1968956</li><li>A->G at 620: in dbSNP:rs2275902</li>									<li>rs1968956</li><li>rs12754818</li><li>rs2275902</li>	2
Q9HBX3	27099		<li>T->A at 24: in dbSNP:rs17151639</li>									rs17151639	2
Q9HBX8	59352		<li>N->K at 267: in dbSNP:rs7553800</li><li>A->S at 516: in dbSNP:rs6668765</li><li>G->C at 725: in a colorectal cancer sample; somatic mutation</li><li>P->H at 928: in a colorectal cancer sample; somatic mutation</li>									<li>rs6668765</li><li>rs7553800</li>	2
Q9HBZ2	9915		<li>G->S at 679: in dbSNP:rs4072568</li>									rs4072568	2
Q9HC10	9381		<li>A->V at 53: in dbSNP rsrs1879761</li><li>R->C at 82: in dbSNP:rs13031859</li><li>Q->H at 255: in NSRAN, MIM: 601071</li><li>P->Q at 490: in DFNB9, MIM: 601071</li><li>I->T at 515: in DFNB9 and NSRAN; temperature sensitive, MIM: 601071</li><li>V->M at 575: in dbSNP rsrs55676840, MIM: 601071</li><li>R->S at 773, MIM: 601071</li><li>R->H at 794: in DFNB9, MIM: 601071</li><li>R->W at 818: in dbSNP:rs2272070, MIM: 601071</li><li>R->W at 822: in DFNB9; uncertain pathogenicity, MIM: 601071</li><li>A->E at 964: in NSRAN, MIM: 601071</li><li>L->P at 1011: in NSRAN and DFNB9, MIM: 601071</li><li>A->P at 1083, MIM: 601071</li><li>L->P at 1138: in NSRAN, MIM: 601071</li><li>R->Q at 1157: in dbSNP rsrs56054534, MIM: 601071</li><li>R->Q at 1236, MIM: 601071</li><li>D->E at 1322, MIM: 601071</li><li>E->K at 1323: in a breast cancer sample; somatic mutation, MIM: 601071</li><li>I->V at 1547: in a breast cancer sample; somatic mutation, MIM: 601071</li><li>V->M at 1625, MIM: 601071</li><li>P->S at 1646: in dbSNP:rs17005371, MIM: 601071</li><li>R->H at 1680: in dbSNP:rs11893228, MIM: 601071</li><li>T->K at 1688, MIM: 601071</li><li>F->C at 1795: in NSRAN, MIM: 601071</li><li>P->A at 1825: in DFNB9; dbSNP:rs28937591, MIM: 601071</li><li>V->A at 1886: in dbSNP:rs45442103, MIM: 601071</li><li>G->D at 1888, MIM: 601071</li><li>R->Q at 1939: in NSRAN, MIM: 601071</li><li>P->R at 1987: in NSRAN, MIM: 601071</li>								<li>Non-syndromic auditory neuropathy autosomal recessive (NSRAN) [MIM:601071]</li><li>Non-syndromic sensorineural deafness autosomal recessive type 9 (DFNB9) [MIM:601071]</li>	<li>rs45442103</li><li>rs13031859</li><li>rs2272070</li><li>rs55676840</li><li>rs11893228</li><li>rs28937591</li><li>rs1879761</li><li>rs17005371</li><li>rs56054534</li>	2
Q9HC21	60386		<li>G->A at 177: in MCPHA, MIM: 607196</li>								Microcephaly Amish type (MCPHA) [MIM:607196]		2
Q9HC23	60675		<li>G->R at 32: in KAL4, MIM: 610628</li><li>R->C at 73: in KAL4, MIM: 610628</li>								Kallmann syndrome type 4 (KAL4) [MIM:610628]		2
Q9HC24			<li>T->I at 88: in dbSNP:rs8793</li>									rs8793	2
Q9HC35	27436		<li>E->K at 283: in dbSNP:rs6736913</li><li>V->I at 382: in dbSNP:rs10202624</li><li>K->R at 398: in dbSNP:rs28651764</li><li>S->L at 978: in dbSNP:rs28364731</li>									<li>rs28364731</li><li>rs28651764</li><li>rs10202624</li><li>rs6736913</li>	2
Q9HC36	55178		<li>A->S at 8: in dbSNP:rs2273454</li><li>G->E at 45: in dbSNP:rs2249542</li><li>I->V at 185: in dbSNP:rs17854653</li><li>E->Q at 326: in dbSNP:rs35780267</li>									<li>rs35780267</li><li>rs17854653</li><li>rs2273454</li><li>rs2249542</li>	2
Q9HC38	51031		<li>M->I at 282: in dbSNP:rs17851349</li>									rs17851349	2
Q9HC44	60313		<li>P->S at 192: in dbSNP:rs36067922</li><li>R->H at 439: in dbSNP:rs12093126</li>									<li>rs12093126</li><li>rs36067922</li>	2
Q9HC52	57332		<li>G->V at 317: in dbSNP:rs4889891</li>									rs4889891	2
Q9HC57	58189		<li>V->M at 138: in a breast cancer sample; somatic mutation: in dbSNP rsrs11643870</li><li>L->V at 196: in dbSNP:rs35504166</li><li>K->R at 217: in dbSNP:rs12933084</li>									<li>rs11643870</li><li>rs35504166</li><li>rs12933084</li>	2
Q9HC58	57419		<li>L->P at 49: in dbSNP:rs3790174</li><li>V->I at 55: in dbSNP:rs1569767</li><li>V->I at 168: in dbSNP:rs3790267</li><li>G->S at 271: in dbSNP:rs6136807</li>									<li>rs1569767</li><li>rs6136807</li><li>rs3790267</li><li>rs3790174</li>	2
Q9HC62	59343		<li>T->K at 301: in dbSNP:rs6762208</li>									rs6762208	2
Q9HC77	55835		<li>M->V at 21: in dbSNP:rs35498994</li><li>P->A at 55: in dbSNP:rs17081389</li><li>D->H at 63: in dbSNP:rs7336216</li><li>P->T at 85: in dbSNP:rs9511510</li><li>E->G at 151: in dbSNP:rs34177811</li><li>S->A at 879: in dbSNP:rs17402892</li><li>E->V at 1235: in MCPH6, MIM: 608393</li>								Primary microcephaly autosomal recessive type 6 (MCPH6) [MIM:608393]	<li>rs34177811</li><li>rs7336216</li><li>rs17081389</li><li>rs17402892</li><li>rs9511510</li><li>rs35498994</li>	2
Q9HC96	11132		<li>P->T at 200: in dbSNP:rs3792268</li><li>R->H at 202</li><li>E->G at 276: in a colorectal cancer sample; somatic mutation</li><li>A->V at 341</li><li>T->A at 504: in dbSNP:rs7607759</li><li>A->S at 529</li><li>S->N at 613</li><li>V->I at 666: in dbSNP:rs2975766</li>									<li>rs2975766</li><li>rs3792268</li><li>rs7607759</li>	2
Q9HC97	2859		<li>A->T at 25: in dbSNP:rs35146537</li><li>V->I at 29</li><li>V->M at 76: in dbSNP:rs13387859</li><li>T->M at 108: in dbSNP:rs3749171</li><li>R->S at 125: in dbSNP:rs34778053</li><li>T->M at 253: in dbSNP rsrs12468485</li><li>S->R at 294: in dbSNP:rs3749172</li>									<li>rs3749171</li><li>rs12468485</li><li>rs13387859</li><li>rs3749172</li><li>rs34778053</li><li>rs35146537</li>	2
Q9HCC0	64087		<li>E->Q at 99: in MCC2 deficiency; severe and mild form: in dbSNP rsrs28934883, MIM: 210210</li><li>R->Q at 155: in MCC2 deficiency; mild form, MIM: 210210</li><li>C->R at 167: in MCC2 deficiency: in dbSNP rsrs28934884, MIM: 210210</li><li>S->L at 173: in MCC2 deficiency; severe form, MIM: 210210</li><li>R->C at 193: in MCC2 deficiency; mild form, MIM: 210210</li><li>A->T at 218: in MCC2 deficiency, MIM: 210210</li><li>R->T at 268: in MCC2 deficiency; asymptomatic form, MIM: 210210</li><li>P->R at 310: in MCC2 deficiency; mild form, MIM: 210210</li><li>V->M at 339: in MCC2 deficiency; severe form, MIM: 210210</li><li>I->V at 437: in MCC2 deficiency; mild form, MIM: 210210</li><li>A->G at 478: in dbSNP:rs35068278, MIM: 210210</li>							Q8N6Y0	Methylcrotonoyl-CoA carboxylase deficiency type 2 (MCC2 deficiency) [MIM:210210]	<li>rs35068278</li><li>rs28934884</li><li>rs28934883</li>	2
Q9HCC9	57732		<li>S->N at 603: in dbSNP:rs17768776</li><li>P->S at 672: in dbSNP:rs661301</li>									<li>rs17768776</li><li>rs661301</li>	2
Q9HCE0	57724		<li>E->D at 844: in dbSNP:rs3744999</li><li>V->A at 1058: in dbSNP:rs3744998</li><li>I->V at 1131: in dbSNP:rs3744997</li><li>A->T at 1511: in a breast cancer sample; somatic mutation</li><li>A->V at 1511: in dbSNP:rs1893523</li><li>S->N at 1864: in dbSNP:rs34064739</li><li>C->Y at 1865: in a breast cancer sample; somatic mutation</li><li>R->Q at 1985: in dbSNP:rs34674177</li><li>R->W at 2056: in a breast cancer sample; somatic mutation</li>									<li>rs34064739</li><li>rs34674177</li><li>rs3744999</li><li>rs3744998</li><li>rs3744997</li><li>rs1893523</li>	2
Q9HCE3	55205		<li>E->D at 761: in dbSNP:rs3737506</li><li>S->L at 822: in a breast cancer sample; somatic mutation</li>									rs3737506	2
Q9HCE6	55160		<li>D->N at 69: in dbSNP:rs35497285</li><li>A->V at 96: in a colorectal cancer sample; somatic mutation</li><li>R->W at 991: in dbSNP:rs6695710</li><li>V->I at 1219: in dbSNP:rs2270976</li>									<li>rs6695710</li><li>rs35497285</li><li>rs2270976</li>	2
Q9HCF6			<li>Q->R at 1695: in dbSNP:rs6560142</li>									rs6560142	2
Q9HCH3	57699		<li>N->S at 33: in dbSNP:rs3734334</li><li>R->H at 582: in dbSNP:rs3830138</li>									<li>rs3830138</li><li>rs3734334</li>	2
Q9HCI5	57692		<li>Y->F at 640: in a breast cancer sample; somatic mutation</li><li>T->N at 664: in a breast cancer sample; somatic mutation</li>										2
Q9HCI6	57691		<li>F->L at 75: in dbSNP:rs36113897</li><li>V->M at 81: in dbSNP:rs6926980</li>									<li>rs6926980</li><li>rs36113897</li>	2
Q9HCJ0	57690	<ul><li>H->A at 1537: Strongly reduced ability to repress translation of target mRNAs</li><li>F->A at 1543: Weakly reduced ability to repress translation of target mRNAs</li><li>Y->A at 1556: Strongly reduced ability to repress translation of target mRNAs</li></ul>	<li>P->R at 820: in dbSNP:rs34293811</li>	translation	GO:0043037							rs34293811	3
Q9HCJ1	56172		<li>P->L at 5: in CCAL2, MIM: 118600</li><li>P->T at 5: in CCAL2, MIM: 118600</li><li>M->T at 48: in CCAL2, MIM: 118600</li><li>W->R at 292: in CMDJ, MIM: 123000</li><li>C->R at 331: in CMDJ, MIM: 123000</li><li>Missing  at 375: in CMDJ, MIM: 123000</li><li>Missing  at 376: in CMDJ, MIM: 123000</li><li>Missing  at 377: in CMDJ, MIM: 123000</li><li>P->PA at 380: in CMDJ, MIM: 123000</li><li>G->R at 389: in CMDJ: in dbSNP rsrs28939080, MIM: 123000</li><li>Missing  at 490: in CCAL2; sporadic, MIM: 123000</li>								<li>Craniometaphyseal dysplasia Jackson type (CMDJ) [MIM:123000]</li><li>Chondrocalcinosis 2 (CCAL2) [MIM:118600]</li>	rs28939080	2
Q9HCK0	57684		<li>H->R at 236: in dbSNP:rs7856488</li>									rs7856488	2
Q9HCK1	57683		<li>R->K at 160: in dbSNP:rs10932150</li>									rs10932150	2
Q9HCK4	6092		<li>I->T at 945: in VUR2, MIM: 610878</li><li>A->T at 1236: in VUR2, MIM: 610878</li>								Vesicoureteral reflux type 2 (VUR2) [MIM:610878]		2
Q9HCL2	57678		<li>S->Y at 4: in dbSNP:rs11549703</li><li>I->V at 43: in dbSNP:rs2792751</li><li>E->G at 131: in dbSNP:rs10787428</li><li>I->T at 386: in dbSNP:rs35019520</li>									<li>rs10787428</li><li>rs11549703</li><li>rs35019520</li><li>rs2792751</li>	2
Q9HCM1	55196		<li>I->V at 59: in dbSNP:rs7298803</li><li>H->Q at 106: in dbSNP:rs2388981</li><li>I->V at 202: in dbSNP:rs12320740</li><li>P->L at 250: in dbSNP:rs2166807</li><li>R->Q at 309: in dbSNP:rs16919122</li><li>S->N at 346: in dbSNP:rs3207618</li><li>S->G at 352: in dbSNP:rs10771894</li><li>S->T at 433: in dbSNP:rs3759302</li><li>P->S at 518: in dbSNP:rs3759301</li><li>F->S at 954: in dbSNP:rs3809228</li><li>T->K at 1010: in dbSNP:rs16919127</li><li>S->C at 1208: in dbSNP:rs3759299</li><li>V->I at 1226: in dbSNP:rs1057994</li><li>T->A at 1338: in dbSNP:rs3759296</li>									<li>rs2388981</li><li>rs16919122</li><li>rs3759301</li><li>rs3207618</li><li>rs7298803</li><li>rs12320740</li><li>rs3759302</li><li>rs3809228</li><li>rs1057994</li><li>rs16919127</li><li>rs3759299</li><li>rs2166807</li><li>rs10771894</li><li>rs3759296</li>	2
Q9HCM3	57670		<li>A->P at 372: in dbSNP:rs2718131</li><li>V->G at 775: in dbSNP:rs2354336</li>									<li>rs2354336</li><li>rs2718131</li>	2
Q9HCM4	57669		<li>H->Y at 334: in dbSNP:rs28930677</li><li>A->T at 462: in dbSNP:rs1034489</li>									<li>rs1034489</li><li>rs28930677</li>	2
Q9HCM7	57666		<li>L->P at 294: in dbSNP:rs3751315</li>									rs3751315	2
Q9HCN3	58986		<li>A->T at 136: in dbSNP:rs11248931</li><li>V->I at 310: in dbSNP:rs2071915</li>									<li>rs2071915</li><li>rs11248931</li>	2
Q9HCP0	53944		<li>R->K at 206: in dbSNP rsrs55799101</li><li>V->I at 329: in dbSNP rsrs55699712</li>									<li>rs55699712</li><li>rs55799101</li>	2
Q9HCP6	57467		<li>M->V at 403: in dbSNP:rs11079</li>									rs11079	2
Q9HCQ7	64111		<li>M->I at 32: in dbSNP:rs886354</li><li>D->G at 42: in dbSNP:rs877834</li><li>V->M at 121: in dbSNP:rs3213641</li>									<li>rs3213641</li><li>rs877834</li><li>rs886354</li>	2
Q9HCS2	66002		<li>P->L at 13: in dbSNP:rs16995376</li><li>M->T at 16: in dbSNP:rs16995378</li><li>D->N at 76: in dbSNP:rs609636</li><li>V->I at 90: in dbSNP:rs609290</li><li>R->C at 188: in dbSNP:rs2285888</li><li>G->S at 522: in dbSNP:rs593818</li>									<li>rs2285888</li><li>rs609636</li><li>rs609290</li><li>rs593818</li><li>rs16995376</li><li>rs16995378</li>	2
Q9HCS4	83439		<li>T->N at 147: in a breast cancer sample; somatic mutation</li><li>G->R at 533: in dbSNP:rs11547160</li>									rs11547160	2
Q9HCS7	56949		<li>V->I at 126: in dbSNP rsrs4134822</li><li>R->Q at 454: in dbSNP rsrs4134850</li><li>A->T at 702: in dbSNP:rs4134865</li>									<li>rs4134822</li><li>rs4134850</li><li>rs4134865</li>	2
Q9HCU0	57124		<li>L->F at 6: in a colorectal cancer sample; somatic mutation</li><li>H->R at 457: in dbSNP:rs3741367</li>									rs3741367	2
Q9HCU4	1952		<li>R->Q at 1066: in dbSNP:rs12083590</li><li>Y->H at 1639: in dbSNP:rs653635</li><li>G->R at 1992: in dbSNP:rs12567377</li><li>T->A at 2387: in dbSNP:rs17035649</li>									<li>rs12567377</li><li>rs12083590</li><li>rs17035649</li><li>rs653635</li>	2
Q9HCX3			<li>L->P at 121: in dbSNP:rs862708</li><li>E->K at 367: in dbSNP:rs862709</li>									<li>rs862709</li><li>rs862708</li>	2
Q9HCZ1	55713		<li>N->S at 547: in dbSNP:rs3764690</li>									rs3764690	2
Q9HD15	10011		<li>Q->E at 32: in dbSNP:rs35610885</li>									rs35610885	2
Q9HD23	57380		<li>P->S at 35: in dbSNP:rs2295651</li>									rs2295651	2
Q9HD33	57129		<li>C->G at 10: in dbSNP:rs2339844</li><li>R->H at 213: in dbSNP:rs10513762</li>									<li>rs10513762</li><li>rs2339844</li>	2
Q9HD34	57128		<li>S->A at 11: in dbSNP:rs2224391</li>									rs2224391	2
Q9HD36	10017		<li>L->R at 11: in dbSNP:rs2231292</li>									rs2231292	2
Q9HD67	4651		<li>V->I at 32: in dbSNP:rs17707947</li><li>E->D at 273: in dbSNP:rs6870170</li><li>R->W at 324: in dbSNP:rs11750538</li><li>R->Q at 700: in dbSNP:rs26740</li><li>S->T at 1663: in dbSNP:rs25901</li>									<li>rs26740</li><li>rs6870170</li><li>rs25901</li><li>rs11750538</li><li>rs17707947</li>	2
Q9HD90			<li>K->T at 68</li>										2
Q9HDC5	56704		<li>T->M at 507: in dbSNP:rs16938829</li><li>D->H at 624: in dbSNP:rs16938828</li>									<li>rs16938828</li><li>rs16938829</li>	2
Q9HDC9	57136		<li>I->V at 65: in dbSNP:rs17298715</li><li>R->Q at 282: in dbSNP:rs35097515</li><li>R->W at 374: in dbSNP:rs28364786</li>									<li>rs35097515</li><li>rs28364786</li><li>rs17298715</li>	2
Q9N2K0			<li>V->L at 81: in allele HERV-H19</li><li>F->L at 150: in allele HERV-H19</li>										2
Q9NNW7	10587		<li>R->L at 14: in dbSNP:rs45593642</li><li>A->S at 66: in dbSNP:rs5748469</li><li>S->R at 299: in dbSNP:rs5992495</li><li>I->T at 370: in dbSNP:rs1139793</li>									<li>rs1139793</li><li>rs5992495</li><li>rs5748469</li><li>rs45593642</li>	2
Q9NNX1	7286		<li>Q->R at 18: in dbSNP:rs3828054</li><li>K->R at 296: in dbSNP:rs16833395</li>									<li>rs3828054</li><li>rs16833395</li>	2
Q9NNZ6	58531		<li>Q->R at 100: in dbSNP:rs429744</li>									rs429744	2
Q9NP31	9047		<li>N->S at 52: in dbSNP:rs926103</li>									rs926103	2
Q9NP50	58516		<li>R->H at 117: in dbSNP:rs2304459</li>									rs2304459	2
Q9NP58	10058		<li>R->G at 69: in a breast cancer sample; somatic mutation</li><li>L->V at 293: in dbSNP:rs13018440</li><li>R->Q at 648: in dbSNP:rs13402964</li>									<li>rs13018440</li><li>rs13402964</li>	2
Q9NP59	30061		<li>Y->N at 64: in HFE4, MIM: 606069</li><li>A->D at 77: in HFE4: in dbSNP rsrs28939076, MIM: 606069</li><li>G->S at 80: in iron overload, MIM: 606069</li><li>G->V at 80: in HFE4, MIM: 606069</li><li>N->D at 144: in HFE4, MIM: 606069</li><li>N->H at 144: in HFE4, MIM: 606069</li><li>N->T at 144: in HFE4, MIM: 606069</li><li>D->G at 157: in HFE4, MIM: 606069</li><li>Missing  at 162: in HFE4, MIM: 606069</li><li>N->I at 174: in iron overload, MIM: 606069</li><li>D->V at 181: in HFE4, MIM: 606069</li><li>Q->H at 182: in HFE4, MIM: 606069</li><li>Q->H at 248: common polymorphism associated with mild anemia and a tendancy to iron loading; dbSNP:rs11568350, MIM: 606069</li><li>G->D at 267: in HFE4, MIM: 606069</li><li>D->V at 270: in HFE4, MIM: 606069</li><li>G->V at 323: in HFE4, MIM: 606069</li><li>C->Y at 326: in iron overload, MIM: 606069</li><li>M->V at 432: in dbSNP:rs11568355, MIM: 606069</li><li>P->L at 443: in dbSNP:rs45606432, MIM: 606069</li><li>G->D at 490: in iron overload, MIM: 606069</li><li>R->G at 561: in dbSNP:rs11568346, MIM: 606069</li>								Hemochromatosis type 4 (HFE4) [MIM:606069]	<li>rs28939076</li><li>rs45606432</li><li>rs11568350</li><li>rs11568346</li><li>rs11568355</li>	2
Q9NP60	26280		<li>F->L at 606: in a breast cancer sample; somatic mutation</li>										2
Q9NP61	26286		<li>E->G at 290: in a breast cancer sample; somatic mutation</li><li>S->R at 355: in dbSNP:rs1018448</li>									rs1018448	2
Q9NP70	258		<li>M->T at 11: in ameloblastoma</li><li>A->V at 255: in dbSNP:rs7439186</li><li>L->P at 354</li><li>RT->GA at 396-397: in ameloblastoma</li><li>H->R at 439: in ameloblastoma</li>									rs7439186	2
Q9NP71	51085		<li>Q->H at 241: in dbSNP:rs3812316</li><li>D->E at 244: in dbSNP:rs34922362</li>									<li>rs34922362</li><li>rs3812316</li>	2
Q9NP72	22931		<li>N->S at 113: in dbSNP:rs12268932</li><li>A->T at 198: in dbSNP:rs11015859</li>									<li>rs12268932</li><li>rs11015859</li>	2
Q9NP74	54873		<li>H->Q at 73: in dbSNP:rs11802902</li><li>N->S at 229: in dbSNP:rs35258980</li><li>E->D at 459: in dbSNP:rs35317701</li>									<li>rs35317701</li><li>rs35258980</li><li>rs11802902</li>	2
Q9NP78	23457		<li>V->M at 121: in dbSNP:rs3803002</li>									rs3803002	2
Q9NP79	51534		<li>I->M at 239: in dbSNP:rs2232307</li>									rs2232307	2
Q9NP81	54938		<li>T->A at 35: in dbSNP:rs34264048</li><li>S->L at 83: in dbSNP:rs34050897</li>									<li>rs34050897</li><li>rs34264048</li>	2
Q9NP85	7827		<li>P->L at 20: in SRN, MIM: 600995</li><li>G->C at 92: in SRN, MIM: 600995</li><li>R->Q at 138: in SRN, MIM: 600995</li><li>D->G at 160: in SRN, MIM: 600995</li><li>V->M at 180: in SRN, MIM: 600995</li><li>R->W at 291: in SRN, MIM: 600995</li>							<li>Q29539</li><li>Q29538</li><li>P00669</li><li>Q29535</li>	Autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]		2
Q9NP86	56344		<li>T->R at 65: in dbSNP:rs34862923</li><li>L->P at 80: in dbSNP:rs8105198</li><li>V->A at 128: in dbSNP:rs3745746</li><li>E->K at 140: in dbSNP:rs34681062</li><li>I->S at 147: in dbSNP:rs10425606</li>									<li>rs34681062</li><li>rs34862923</li><li>rs3745746</li><li>rs10425606</li><li>rs8105198</li>	2
Q9NP87	27434		<li>E->D at 107: in dbSNP rsrs28382635</li><li>G->A at 220: in dbSNP:rs28382644</li><li>V->F at 246: in dbSNP:rs28382653</li><li>L->F at 484: in dbSNP rsrs28382661</li>									<li>rs28382661</li><li>rs28382653</li><li>rs28382644</li><li>rs28382635</li>	2
Q9NP91	54716		<li>A->G at 9: in dbSNP:rs2271615</li><li>T->M at 199: in dbSNP:rs17279437</li>									<li>rs2271615</li><li>rs17279437</li>	2
Q9NP92	10884		<li>C->F at 33: in dbSNP:rs3747479</li><li>C->S at 33: in dbSNP:rs3747479</li><li>A->V at 102: in dbSNP:rs35601455</li>									<li>rs35601455</li><li>rs3747479</li>	2
Q9NP94	29986		<li>M->V at 80: in dbSNP:rs2234634</li><li>G->E at 129: in dbSNP:rs6413532</li><li>H->Y at 154: in dbSNP:rs2234637</li>									<li>rs2234637</li><li>rs2234634</li><li>rs6413532</li>	2
Q9NP95	26281		<li>G->R at 116: in dbSNP:rs3793405</li><li>P->A at 175: in dbSNP:rs10089600</li><li>D->N at 206: in dbSNP:rs17550360</li>									<li>rs3793405</li><li>rs10089600</li><li>rs17550360</li>	2
Q9NP97	83658		<li>S->R at 13: in dbSNP:rs1063616</li><li>I->F at 71: in dbSNP:rs10036</li>									<li>rs10036</li><li>rs1063616</li>	2
Q9NP99	54210		<li>T->S at 25: in dbSNP:rs2234237</li><li>R->S at 97: in a breast cancer sample; somatic mutation</li><li>K->T at 135: in dbSNP:rs34727391</li><li>F->L at 214: in dbSNP:rs2234245</li>									<li>rs2234237</li><li>rs2234245</li><li>rs34727391</li>	2
Q9NPA1	27094		<li>D->G at 44: in dbSNP:rs1170672</li><li>A->T at 53: in dbSNP:rs7645550</li><li>L->V at 75: in dbSNP:rs2276802</li><li>N->S at 165</li><li>M->T at 230</li>									<li>rs1170672</li><li>rs7645550</li><li>rs2276802</li>	2
Q9NPA5	55734		<li>Q->P at 68: in dbSNP:rs7353222</li><li>P->L at 139: in dbSNP:rs6021773</li><li>F->Y at 425: in dbSNP:rs16996517</li><li>S->N at 451: in dbSNP:rs3746414</li>									<li>rs7353222</li><li>rs6021773</li><li>rs3746414</li><li>rs16996517</li>	2
Q9NPB8	56261		<li>T->I at 273: in dbSNP:rs2273373</li>									rs2273373	2
Q9NPC4	53947		<li>M->V at 37: in dbSNP:rs11541159</li><li>Missing  at 80: in p individuals</li><li>Q->R at 163: in dbSNP:rs28915383</li><li>M->K at 183: in p individuals; complete loss of activity</li><li>G->D at 187: in p individuals; partial loss of activity; dbSNP:rs28940572</li><li>P->L at 251: in p individuals; complete loss of activity; dbSNP:rs28940571</li>									<li>rs11541159</li><li>rs28915383</li><li>rs28940571</li><li>rs28940572</li>	2
Q9NPD5	28234		<li>S->A at 112: in dbSNP:rs4149117</li><li>M->I at 233: in dbSNP:rs7311358</li><li>I->M at 292: in a colorectal cancer sample; somatic mutation</li><li>V->A at 560: in dbSNP:rs12299012</li><li>M->L at 647: in a colorectal cancer sample; somatic mutation</li>									<li>rs7311358</li><li>rs12299012</li><li>rs4149117</li>	2
Q9NPE2	51335		<li>L->F at 102: in dbSNP:rs11073922</li><li>D->G at 195: in dbSNP:rs16944113</li>									<li>rs11073922</li><li>rs16944113</li>	2
Q9NPE3	55505		<li>R->W at 34: in ARDKC, MIM: 224230</li>								Dyskeratosis congenita autosomal recessive (ARDKC) [MIM:224230]		2
Q9NPF0	51293		<li>Q->R at 8: in dbSNP:rs2232775</li><li>G->R at 220: in dbSNP:rs2336573</li>									<li>rs2336573</li><li>rs2232775</li>	2
Q9NPG3	29855	<ul><li>F->E at 138: Strongly diminishes interaction with HIRA,; when associated with E-139 and L-140</li><li>I->E at 139: Strongly diminishes interaction with HIRA,; when associated with E-138 and L-140</li><li>D->L at 140: Strongly diminishes interaction with HIRA,; when associated with E-138 and L-139</li><li>F->E at 160: Strongly diminishes interaction with HIRA</li><li>I->E at 162: Strongly diminishes interaction with HIRA</li></ul>	<li>Y->C at 435: in dbSNP:rs35103368</li>							<li>P54198</li><li>O42611</li><li>P79987</li>		rs35103368	3
Q9NPG4	51294		<li>H->N at 385: in dbSNP:rs164075</li><li>S->N at 640: in dbSNP:rs164515</li>									<li>rs164515</li><li>rs164075</li>	2
Q9NPG8	55146		<li>V->M at 53: in dbSNP:rs11559146</li><li>P->S at 104: in a breast cancer sample; somatic mutation</li>									rs11559146	2
Q9NPH3	3556		<li>V->M at 473: in dbSNP:rs34661910</li>									rs34661910	2
Q9NPH6	29989		<li>V->I at 167: in dbSNP:rs11244035</li>									rs11244035	2
Q9NPI9	3773		<li>I->V at 11: in dbSNP:rs9302912</li>									rs9302912	2
Q9NPJ1	8195		<li>I->M at 32: in BBS6, MIM: 209900</li><li>Y->C at 37: in MKKS; in the heterozygous state; sporadic and in BBS6; in the homozygous state, MIM: 236700</li><li>G->V at 49, MIM: 236700</li><li>G->D at 52: in BBS6; dbSNP:rs28937875, MIM: 209900</li><li>T->A at 57: in BBS6, MIM: 209900</li><li>H->Y at 84: in MKKS; may interfere with ATP hydrolysis, MIM: 236700</li><li>R->L at 155: in BBS6, MIM: 209900</li><li>A->P at 181: in BBS6, MIM: 209900</li><li>S->P at 236: in BBS6, MIM: 209900</li><li>T->A at 237: in BBS6, MIM: 209900</li><li>T->P at 237: in BBS6, MIM: 209900</li><li>A->S at 242: in MKKS and BBS6, MIM: 236700</li><li>L->P at 277: in BBS6, MIM: 209900</li><li>D->A at 286: in BBS6, MIM: 209900</li><li>T->P at 325: has a modifier effect on BBS; causes a mislocalization of the protein compared with the wild-type, MIM: 209900</li><li>I->V at 339: in BBS6, MIM: 209900</li><li>G->E at 345: in BBS6, MIM: 209900</li><li>S->P at 460: in BBS6, MIM: 209900</li><li>D->N at 492: in BBS6, MIM: 209900</li><li>C->S at 499: in BBS6, MIM: 209900</li><li>S->A at 511: in BBS6, MIM: 209900</li><li>R->C at 517: in dbSNP:rs1547, MIM: 209900</li><li>R->H at 518: in BBS6, MIM: 209900</li><li>G->V at 532: in dbSNP:rs1545, MIM: 209900</li>	ATP hydrolysis	GO:0006200					<li>Q9NPJ1</li><li>Q5R4T7</li>	<li>Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]</li><li>McKusick-Kaufman syndrome (MKKS) [MIM:236700]</li>	<li>rs28937875</li><li>rs1545</li><li>rs1547</li>	2
Q9NPL8	51300		<li>N->D at 76: in dbSNP:rs11539377</li>									rs11539377	2
Q9NPR2			<li>S->A at 792</li>										2
Q9NPY3	22918		<li>A->V at 220: in a colorectal cancer sample; somatic mutation</li><li>V->A at 318</li><li>P->S at 541: in dbSNP:rs3746731</li>									rs3746731	2
Q9NQ25	57823		<li>H->Y at 175: in dbSNP:rs35325048</li><li>T->M at 302: in dbSNP:rs2295617</li>									<li>rs35325048</li><li>rs2295617</li>	2
Q9NQ31	56672		<li>R->K at 23: in dbSNP:rs1133833</li><li>I->T at 132: in dbSNP:rs35131475</li>									<li>rs1133833</li><li>rs35131475</li>	2
Q9NQ36	57758		<li>T->M at 591: in dbSNP:rs3751055</li><li>Q->H at 712: in dbSNP:rs7395988</li><li>V->G at 752: in dbSNP:rs12419343</li><li>T->S at 791: in dbSNP:rs3751057</li><li>P->R at 843: in dbSNP:rs3751059</li>									<li>rs7395988</li><li>rs3751055</li><li>rs12419343</li><li>rs3751057</li><li>rs3751059</li>	2
Q9NQ38	11005		<li>Q->R at 267: in dbSNP:rs6892205</li><li>S->N at 368: in dbSNP:rs2303063</li><li>D->N at 386: in dbSNP:rs2303064</li><li>V->M at 395: in dbSNP:rs17775319</li><li>K->E at 420: in dbSNP:rs2303067</li><li>R->H at 441: in dbSNP:rs34393923</li><li>I->M at 588: in dbSNP:rs35877540</li><li>R->Q at 711: in dbSNP:rs3777134</li><li>E->D at 825: in dbSNP:rs2303070</li><li>S->R at 887: in dbSNP:rs28408445</li><li>K->E at 969: in dbSNP:rs3188691</li><li>H->R at 972: in dbSNP:rs17705005</li>									<li>rs2303067</li><li>rs17705005</li><li>rs2303064</li><li>rs28408445</li><li>rs17775319</li><li>rs2303063</li><li>rs3188691</li><li>rs3777134</li><li>rs34393923</li><li>rs2303070</li><li>rs6892205</li><li>rs35877540</li>	2
Q9NQ40	113278		<li>I->M at 74: in dbSNP:rs35655964</li><li>D->G at 174: in dbSNP:rs6054614</li><li>P->L at 267: in dbSNP:rs3746804</li><li>T->M at 278: in dbSNP:rs3746803</li><li>I->V at 303: in dbSNP:rs3746802</li>									<li>rs3746802</li><li>rs3746803</li><li>rs35655964</li><li>rs3746804</li><li>rs6054614</li>	2
Q9NQ48	54585		<li>K->E at 152: in dbSNP:rs17855512</li><li>D->N at 246: in dbSNP:rs1129183</li><li>Q->R at 251: in dbSNP:rs17852322</li>									<li>rs1129183</li><li>rs17852322</li><li>rs17855512</li>	2
Q9NQ50	64976		<li>R->H at 129: in dbSNP:rs7575</li>									rs7575	2
Q9NQ55	56342		<li>G->V at 358: in dbSNP:rs2305793</li><li>Q->R at 408: in dbSNP:rs11559188</li>									<li>rs2305793</li><li>rs11559188</li>	2
Q9NQ60	54586		<li>N->D at 101: in dbSNP:rs12337286</li><li>T->K at 274: in dbSNP:rs41305329</li>									<li>rs41305329</li><li>rs12337286</li>	2
Q9NQ66	23236		<li>E->K at 854: in dbSNP:rs2076413</li><li>A->P at 907: in a breast cancer sample; somatic mutation</li>									rs2076413	2
Q9NQ75	57091		<li>R->K at 491: in dbSNP:rs16979936</li><li>T->N at 629: in dbSNP:rs6069755</li><li>P->S at 660: in dbSNP:rs35031530</li><li>Q->H at 780: in dbSNP:rs7272702</li>									<li>rs7272702</li><li>rs16979936</li><li>rs35031530</li><li>rs6069755</li>	2
Q9NQ76	56955		<li>V->I at 330: in dbSNP:rs17013285</li>									rs17013285	2
Q9NQ79	55118		<li>A->T at 253: in dbSNP:rs35853031</li><li>V->M at 569: in dbSNP:rs2297935</li>									<li>rs2297935</li><li>rs35853031</li>	2
Q9NQ86	55521		<li>K->R at 428</li><li>N->S at 456: in dbSNP:rs17137481</li><li>N->D at 678: in dbSNP:rs2974617</li>									<li>rs2974617</li><li>rs17137481</li>	2
Q9NQ87	26508		<li>H->R at 47: in dbSNP:rs784625</li>									rs784625	2
Q9NQ90	57101		<li>V->A at 108: in dbSNP:rs3741903</li><li>S->A at 501: in dbSNP:rs1860961</li>									<li>rs3741903</li><li>rs1860961</li>	2
Q9NQ92	55352		<li>S->G at 43: in dbSNP:rs8068049</li>									rs8068049	2
Q9NQA5	56302		<li>A->V at 8: in dbSNP:rs4252372</li><li>R->H at 154: in dbSNP:rs4236480</li><li>A->T at 563: in dbSNP:rs4252499</li><li>L->F at 712: in dbSNP:rs4252509</li>									<li>rs4252372</li><li>rs4252499</li><li>rs4236480</li><li>rs4252509</li>	2
Q9NQC1	23338		<li>R->G at 581: in dbSNP:rs34200923</li>									rs34200923	2
Q9NQC3	57142		<li>D->V at 357: in dbSNP:rs11677099</li><li>L->V at 429: in a colorectal cancer sample; somatic mutation</li><li>E->Q at 899: in dbSNP:rs6757519</li><li>S->C at 920: in dbSNP:rs6757705</li>									<li>rs11677099</li><li>rs6757705</li><li>rs6757519</li>	2
Q9NQE7	10279		<li>S->I at 104: in dbSNP:rs5030965</li><li>A->G at 204: in dbSNP:rs35466700</li>									<li>rs35466700</li><li>rs5030965</li>	2
Q9NQG6	54471		<li>G->R at 78: in dbSNP:rs2272830</li><li>T->M at 89: in dbSNP:rs17001213</li><li>R->W at 169: in dbSNP:rs2232088</li><li>D->N at 264: in dbSNP:rs2232091</li>									<li>rs17001213</li><li>rs2272830</li><li>rs2232091</li><li>rs2232088</li>	2
Q9NQG7	89781		<li>E->G at 229: in dbSNP:rs713998</li><li>L->V at 443: in dbSNP:rs2014410</li><li>V->M at 552: in dbSNP:rs5752330</li><li>H->Y at 606: in dbSNP:rs1894706</li><li>Q->H at 625: in dbSNP:rs1894704</li>									<li>rs713998</li><li>rs1894704</li><li>rs1894706</li><li>rs5752330</li><li>rs2014410</li>	2
Q9NQH7	63929		<li>I->L at 450: in dbSNP:rs17002243</li>									rs17002243	2
Q9NQI0	54514		<li>G->D at 148: in dbSNP:rs2306259</li><li>I->V at 287: in dbSNP:rs2305123</li>									<li>rs2305123</li><li>rs2306259</li>	2
Q9NQL9	58524		<li>A->T at 164: in dbSNP:rs10978001</li><li>N->T at 261: in dbSNP:rs7854621</li><li>G->V at 356: in dbSNP:rs16927037</li>									<li>rs16927037</li><li>rs10978001</li><li>rs7854621</li>	2
Q9NQR4	56954		<li>V->A at 231: in dbSNP:rs17851799</li>									rs17851799	2
Q9NQS1	57099		<li>Q->R at 228: in dbSNP:rs2241647</li>									rs2241647	2
Q9NQS3	25945		<li>R->L at 432: in dbSNP:rs15611</li>									rs15611	2
Q9NQS5	53831		<li>G->D at 37: in dbSNP:rs11170883</li>									rs11170883	2
Q9NQS7	3619		<li>G->V at 2: in dbSNP:rs1792947</li><li>R->H at 100: in dbSNP:rs12281503</li><li>A->V at 137: in dbSNP:rs34441559</li><li>M->T at 506: in dbSNP:rs2277283</li><li>E->D at 644: in dbSNP:rs7129085</li>									<li>rs2277283</li><li>rs1792947</li><li>rs7129085</li><li>rs34441559</li><li>rs12281503</li>	2
Q9NQT4	56915		<li>T->M at 5: in dbSNP:rs10853751</li><li>C->W at 33: in dbSNP:rs34500671</li>									<li>rs34500671</li><li>rs10853751</li>	2
Q9NQT5	51010		<li>Y->H at 225: in dbSNP:rs3208406</li>									rs3208406	2
Q9NQT6	29999		<li>A->S at 24: in dbSNP:rs3779536</li><li>H->L at 428: in dbSNP:rs34394613</li>									<li>rs34394613</li><li>rs3779536</li>	2
Q9NQU5	56924		<li>R->H at 3: in a colorectal cancer sample; somatic mutation</li><li>M->V at 76: in dbSNP:rs2412504</li><li>R->C at 103: in dbSNP:rs36081263</li><li>T->I at 151: in dbSNP:rs35593179</li><li>E->K at 184: in dbSNP rsrs56349744</li><li>G->E at 205: in dbSNP rsrs55920845</li><li>P->T at 208: in dbSNP:rs35501648</li><li>T->M at 210: in dbSNP rsrs34869667</li><li>H->R at 215: in dbSNP:rs3743135</li><li>P->L at 337: in dbSNP:rs3743137</li><li>A->V at 376: in dbSNP rsrs55806501</li><li>E->K at 475: in dbSNP:rs34445577</li><li>L->R at 514: in a lung small cell carcinoma sample; somatic mutation</li>									<li>rs56349744</li><li>rs35593179</li><li>rs3743137</li><li>rs34869667</li><li>rs34445577</li><li>rs3743135</li><li>rs2412504</li><li>rs35501648</li><li>rs55806501</li><li>rs55920845</li><li>rs36081263</li>	2
Q9NQV6	56980		<li>A->T at 22: in dbSNP:rs11221912</li><li>T->A at 573: in dbSNP:rs2241571</li>									<li>rs2241571</li><li>rs11221912</li>	2
Q9NQW1	25956		<li>V->A at 89: in dbSNP:rs3763695</li><li>Y->C at 100: in dbSNP:rs7074707</li><li>L->F at 129: in dbSNP:rs3793706</li><li>S->A at 332: in dbSNP:rs2295774</li><li>P->S at 372: in dbSNP:rs2295772</li><li>R->Q at 433: in dbSNP:rs2295771</li><li>R->T at 478: in dbSNP:rs11819496</li><li>S->R at 527: in dbSNP:rs17113157</li><li>A->S at 1169: in dbSNP:rs2298075</li>									<li>rs3763695</li><li>rs2295771</li><li>rs2295772</li><li>rs17113157</li><li>rs2295774</li><li>rs7074707</li><li>rs2298075</li><li>rs3793706</li><li>rs11819496</li>	2
Q9NQW8	54714		<li>R->H at 25</li><li>N->S at 27: in dbSNP rsrs35807406</li><li>G->R at 107: in ACHM3; uncertain pathogenicity, MIM: 262300</li><li>K->E at 148: in ACHM3, MIM: 262300</li><li>S->F at 156: in ACHM3, MIM: 262300</li><li>E->K at 199: in ACHM3; uncertain pathogenicity, MIM: 262300</li><li>R->Q at 203: in ACHM3; uncertain pathogenicity; dbSNP:rs16916632, MIM: 262300</li><li>W->C at 234: in dbSNP:rs6471482, MIM: 262300</li><li>T->P at 298: in dbSNP:rs4961206, MIM: 262300</li><li>I->V at 307: in dbSNP:rs13265557, MIM: 262300</li><li>P->L at 309: in ACHM3, MIM: 262300</li><li>R->Q at 403: in macular degeneration, MIM: 262300</li><li>S->F at 435: in ACHM3, MIM: 262300</li><li>M->T at 466: in ACHM3; uncertain pathogenicity; dbSNP:rs35010099, MIM: 262300</li><li>Y->D at 469: in STGD1; dbSNP:rs35365413, MIM: 248200</li><li>D->N at 494: in ACHM3; uncertain pathogenicity, MIM: 262300</li><li>D->Y at 513: in ACHM3; uncertain pathogenicity, MIM: 262300</li><li>F->N at 525: in ACHM3; requires 2 nucleotide substitutions, MIM: 262300</li><li>G->C at 558: in ACHM3, MIM: 262300</li><li>L->F at 595: in ACHM3, MIM: 262300</li><li>T->P at 672: in ACHM3; uncertain pathogenicity, MIM: 262300</li><li>Missing  at 720-726: in ACHM3, MIM: 262300</li><li>P->S at 750: in dbSNP:rs3735971, MIM: 262300</li><li>E->G at 755: in dbSNP:rs3735972, MIM: 262300</li>								<li>Achromatopsia type 3 (ACHM3) [MIM:262300]</li><li>Stargardt disease type 1 (STGD1) [MIM:248200]</li>	<li>rs4961206</li><li>rs16916632</li><li>rs35010099</li><li>rs6471482</li><li>rs35807406</li><li>rs3735971</li><li>rs3735972</li><li>rs35365413</li><li>rs13265557</li>	2
Q9NQX3	10243		<li>N->Y at 10: in STHE; sporadic case, MIM: 149400</li>								Startle disease (STHE) [MIM:149400]		2
Q9NQX4			<li>P->L at 522</li><li>L->S at 634</li><li>E->K at 1075: in dbSNP:rs3825801</li>									rs3825801	2
Q9NQZ2	57050		<li>T->M at 23: in dbSNP:rs16845385</li>									rs16845385	2
Q9NQZ5	56910		<li>R->P at 140: in dbSNP:rs2276650</li>									rs2276650	2
Q9NQZ7	57089		<li>V->A at 276: in dbSNP:rs11190245</li>									rs11190245	2
Q9NQZ8	58491		<li>R->G at 27: in dbSNP:rs10405299</li><li>V->I at 105: in dbSNP:rs2072501</li><li>P->L at 121: in dbSNP:rs35392779</li>									<li>rs10405299</li><li>rs35392779</li><li>rs2072501</li>	2
Q9NR00	56892		<li>I->V at 10: in dbSNP:rs6474226</li>									rs6474226	2
Q9NR23	9573		<li>G->R at 213: in dbSNP:rs12819884</li><li>V->L at 328: in dbSNP:rs2302516</li>									<li>rs12819884</li><li>rs2302516</li>	2
Q9NR30	9188		<li>T->I at 27: in dbSNP:rs17556220</li>									rs17556220	2
Q9NR33	56655		<li>G->V at 17: in dbSNP:rs12366</li>									rs12366	2
Q9NR45	54187		<li>E->D at 68: in dbSNP:rs1058446</li>									rs1058446	2
Q9NR46	56904		<li>A->V at 305: in dbSNP:rs17455482</li><li>P->L at 319: in dbSNP:rs17455475</li>									<li>rs17455475</li><li>rs17455482</li>	2
Q9NR48	55870		<li>T->A at 1771: in dbSNP:rs4971053</li>									rs4971053	2
Q9NR50	8891		<li>A->V at 87: in VWM, MIM: 603896</li><li>R->Q at 225: in VWM, MIM: 603896</li><li>D->E at 288: in dbSNP:rs3738247, MIM: 603896</li>								Leukoencephalopathy with vanishing white matter (VWM) [MIM:603896]	rs3738247	2
Q9NR55	55509		<li>V->I at 11: in dbSNP:rs2202683</li>									rs2202683	2
Q9NR63	56603		<li>V->M at 181</li><li>A->V at 185</li><li>R->H at 191</li><li>D->N at 227</li><li>L->S at 264: in dbSNP:rs2241057</li><li>E->K at 380: in dbSNP:rs2286965</li><li>A->G at 420: in dbSNP:rs7568553</li><li>R->C at 473</li><li>V->I at 479</li>									<li>rs7568553</li><li>rs2286965</li><li>rs2241057</li>	2
Q9NR80	50649		<li>K->R at 100: in a breast cancer sample; somatic mutation</li><li>T->R at 441: in a breast cancer sample; somatic mutation</li>										2
Q9NR81	50650		<li>K->R at 13: in dbSNP:rs3732507</li><li>L->V at 335: in dbSNP:rs3772219</li>									<li>rs3772219</li><li>rs3732507</li>	2
Q9NR82	56479		<li>W->G at 191: in a colorectal cancer sample; somatic mutation</li><li>R->C at 244: in a colorectal cancer sample; somatic mutation</li>										2
Q9NR96	54106		<li>R->C at 5: in dbSNP:rs5743842</li><li>H->Q at 79: in dbSNP:rs5743843</li><li>R->Q at 863: in dbSNP:rs5743845</li><li>A->T at 882: in dbSNP:rs5743846</li><li>R->H at 901: in a colorectal cancer sample; somatic mutation</li><li>T->M at 933: in a colorectal cancer sample; somatic mutation</li>									<li>rs5743846</li><li>rs5743843</li><li>rs5743842</li><li>rs5743845</li>	2
Q9NR97	51311		<li>M->V at 10: in dbSNP:rs5744077</li><li>R->Q at 715: in dbSNP:rs5744082</li>									<li>rs5744077</li><li>rs5744082</li>	2
Q9NR99	25878		<li>L->V at 2531: in dbSNP:rs1726208</li>									rs1726208	2
Q9NRA2	26503		<li>R->C at 39: in SD; frequent mutation in Finland, MIM: 604369</li><li>K->E at 136: in SD, MIM: 604369</li><li>H->R at 183: in ISSD, MIM: 269920</li><li>Missing  at 268-272: in ISSD, MIM: 269920</li><li>V->I at 296: in dbSNP:rs16883930, MIM: 269920</li><li>P->R at 334: in ISSD, MIM: 269920</li><li>G->V at 371: in ISSD, MIM: 269920</li>								<li>Salla disease (SD) [MIM:604369]</li><li>Infantile sialic acid storage disorder (ISSD) [MIM:269920]</li>	rs16883930	2
Q9NRB3	55501		<li>P->H at 52: in dbSNP:rs3735099</li><li>T->S at 61: in dbSNP:rs3735100</li><li>P->L at 94: in dbSNP:rs12536223</li><li>R->S at 109: in dbSNP:rs17132395</li><li>A->P at 145: in dbSNP:rs17132399</li>									<li>rs17132395</li><li>rs12536223</li><li>rs17132399</li><li>rs3735099</li><li>rs3735100</li>	2
Q9NRC1	7982		<li>A->T at 186</li><li>I->V at 361</li>										2
Q9NRC6	51332		<li>R->H at 1345: in dbSNP:rs2290559</li><li>R->T at 1367: in dbSNP:rs2290558</li><li>Q->R at 2862: in dbSNP:rs1456235</li><li>A->G at 3275: in dbSNP:rs1197660</li>									<li>rs1197660</li><li>rs1456235</li><li>rs2290559</li><li>rs2290558</li>	2
Q9NRC9	56914		<li>L->P at 31: in dbSNP:rs6135876</li>									rs6135876	2
Q9NRD0	26269		<li>L->I at 269: in a breast cancer sample; somatic mutation</li>										2
Q9NRD1	26270		<li>R->Q at 60: in dbSNP:rs3125818</li><li>P->T at 201: in dbSNP:rs2294639</li>									<li>rs3125818</li><li>rs2294639</li>	2
Q9NRD8	50506		<li>Q->H at 36: in CHDH6, MIM: 607200</li><li>P->L at 138: in dbSNP:rs2001616, MIM: 607200</li><li>R->W at 376: in CHDH6, MIM: 607200</li><li>L->S at 1067: in dbSNP:rs269868, MIM: 607200</li>								Congenital hypothyroidism due to dyshormonogenesis type 6 (CHDH6) [MIM:607200]	<li>rs269868</li><li>rs2001616</li>	2
Q9NRD9	53905		<li>I->T at 962: in dbSNP:rs16939743</li><li>C->R at 1026: in dbSNP:rs16939752</li><li>L->F at 1178: in dbSNP:rs2458236</li>									<li>rs16939752</li><li>rs16939743</li><li>rs2458236</li>	2
Q9NRE1	56547		<li>K->E at 43: in dbSNP:rs2499953</li><li>I->M at 260: in dbSNP:rs16908114</li>									<li>rs2499953</li><li>rs16908114</li>	2
Q9NRE2	128553		<li>R->S at 113: in dbSNP:rs739869</li><li>A->T at 681: in dbSNP:rs6097319</li>									<li>rs739869</li><li>rs6097319</li>	2
Q9NRF9	54107		<li>T->A at 83: in dbSNP rsrs36023979</li><li>E->D at 135: in dbSNP rsrs35933626</li>									<li>rs36023979</li><li>rs35933626</li>	2
Q9NRG0	54108		<li>C->Y at 55: in dbSNP:rs2231522</li><li>H->R at 126: in dbSNP:rs2231524</li>									<li>rs2231522</li><li>rs2231524</li>	2
Q9NRG4	56950		<li>G->E at 165: in dbSNP:rs1134647</li><li>I->M at 430: in dbSNP:rs11120301</li>									<li>rs11120301</li><li>rs1134647</li>	2
Q9NRG9	8086		<li>Q->K at 15: in AAAS, MIM: 231550</li><li>K->M at 108: in dbSNP:rs13330, MIM: 231550</li><li>H->R at 160: in AAAS, MIM: 231550</li><li>S->P at 263: in AAAS, MIM: 231550</li>							Q9NRG9	Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]	rs13330	2
Q9NRH1	57002		<li>K->E at 68: in dbSNP:rs6947660</li>									rs6947660	2
Q9NRH3	27175		<li>M->V at 413: in dbSNP:rs1046097</li>									rs1046097	2
Q9NRJ1			<li>T->M at 19: in dbSNP:rs2233233</li><li>K->R at 49: in dbSNP:rs2233235</li><li>T->I at 57: in dbSNP:rs2233236</li>									<li>rs2233233</li><li>rs2233235</li><li>rs2233236</li>	2
Q9NRJ4	56995		<li>G->S at 214: in dbSNP:rs35262826</li><li>S->N at 522: in dbSNP:rs12206717</li><li>D->N at 979: in dbSNP:rs34622886</li><li>V->I at 1084: in dbSNP:rs34559793</li><li>P->T at 1281: in dbSNP:rs3749852</li>									<li>rs12206717</li><li>rs34622886</li><li>rs3749852</li><li>rs35262826</li><li>rs34559793</li>	2
Q9NRJ7	57717		<li>R->Q at 525: in dbSNP:rs17844651</li><li>G->S at 532: in dbSNP:rs2697532</li>									<li>rs2697532</li><li>rs17844651</li>	2
Q9NRK6	23456		<li>A->S at 150: in dbSNP:rs4148756</li><li>R->G at 242: in dbSNP:rs17584642</li><li>R->T at 471: in a breast cancer sample; somatic mutation</li><li>D->N at 545: in dbSNP:rs35698797</li>									<li>rs35698797</li><li>rs4148756</li><li>rs17584642</li>	2
Q9NRL2	11177		<li>D->E at 344: in dbSNP:rs1133285</li><li>N->K at 1366: in dbSNP:rs1044140</li>									<li>rs1044140</li><li>rs1133285</li>	2
Q9NRL3	29888		<li>V->I at 568: in dbSNP:rs10409124</li>									rs10409124	2
Q9NRM0	56606		<li>S->N at 22</li><li>R->G at 25: in dbSNP rsrs2276961</li><li>E->D at 191</li><li>G->R at 216</li><li>T->M at 275</li><li>D->H at 281</li><li>V->I at 282: in dbSNP:rs16890979</li><li>R->H at 294: in dbSNP:rs3733591</li><li>R->H at 300</li><li>L->P at 350: in dbSNP rsrs2280205</li>									<li>rs3733591</li><li>rs2276961</li><li>rs16890979</li><li>rs2280205</li>	2
Q9NRM1	10117		<li>F->L at 576: in dbSNP:rs2609428</li><li>I->T at 648: in dbSNP:rs7671281</li><li>P->L at 724: in dbSNP:rs3796703</li><li>R->Q at 763: in dbSNP:rs3796704</li><li>D->G at 767: in dbSNP:rs3796705</li>									<li>rs3796703</li><li>rs3796704</li><li>rs3796705</li><li>rs2609428</li><li>rs7671281</li>	2
Q9NRM2	11179		<li>I->L at 320: in a breast cancer sample; somatic mutation</li><li>L->F at 433: in a breast cancer sample; somatic mutation</li>										2
Q9NRM6	55540		<li>G->S at 177: in dbSNP:rs2232337</li><li>A->V at 209: in dbSNP:rs2232340</li><li>R->Q at 232: in dbSNP:rs2232343</li><li>F->L at 278: in dbSNP:rs2232346</li><li>I->T at 451: in dbSNP:rs2232350</li><li>N->S at 458: in dbSNP:rs2232351</li><li>C->R at 499: in dbSNP:rs28385751</li>									<li>rs2232350</li><li>rs2232351</li><li>rs2232340</li><li>rs2232337</li><li>rs28385751</li><li>rs2232346</li><li>rs2232343</li>	2
Q9NRN9	29081		<li>V->G at 202: in dbSNP:rs1051387</li>									rs1051387	2
Q9NRP0	58505		<li>F->L at 9: in a breast cancer sample; somatic mutation</li>										2
Q9NRP2	56942		<li>T->S at 11: in dbSNP:rs2303217</li>									rs2303217	2
Q9NRQ2	57088		<li>N->S at 34: in dbSNP:rs3762685</li><li>I->V at 155: in dbSNP:rs1061409</li>									<li>rs1061409</li><li>rs3762685</li>	2
Q9NRR1	54360		<li>S->L at 51: in dbSNP:rs35755546</li><li>R->C at 136: in dbSNP:rs11722554</li>									<li>rs35755546</li><li>rs11722554</li>	2
Q9NRR2	25823		<li>M->V at 60: in allele gamma-II; dbSNP:rs760357</li><li>I->M at 126: in allele gamma-II</li><li>S->T at 132: in allele gamma-II</li><li>W->S at 160: in dbSNP:rs4984638</li><li>L->I at 204: in allele gamma-II</li><li>L->F at 288: in allele gamma-II; dbSNP:rs1004041</li>							P30671		<li>rs1004041</li><li>rs4984638</li><li>rs760357</li>	2
Q9NRR4	29102		<li>P->T at 67: in dbSNP:rs35342496</li>									rs35342496	2
Q9NRR5	56893		<li>I->M at 495: in dbSNP:rs2297792</li>									rs2297792	2
Q9NRR6	56623		<li>I->M at 201: in dbSNP:rs36064831</li>									rs36064831	2
Q9NRS4	56649		<li>R->Q at 177: in dbSNP:rs1894176</li><li>K->E at 198: in dbSNP:rs12270001</li><li>G->V at 208: in dbSNP:rs1941635</li>									<li>rs1894176</li><li>rs12270001</li><li>rs1941635</li>	2
Q9NRS6	29907		<li>R->C at 334: in dbSNP:rs495820</li>									rs495820	2
Q9NRV9	50865		<li>E->D at 183: in dbSNP:rs1941</li>									rs1941	2
Q9NRW4	56940		<li>R->H at 119: in dbSNP:rs7768224</li>									rs7768224	2
Q9NRX1	56902		<li>R->G at 11: in dbSNP:rs2044693</li><li>G->A at 71: in dbSNP:rs7590838</li>									<li>rs2044693</li><li>rs7590838</li>	2
Q9NRX5	57515		<li>L->V at 199: in dbSNP:rs13210569</li><li>F->V at 216: in dbSNP:rs13210446</li><li>S->G at 225: in dbSNP:rs17260829</li>									<li>rs13210569</li><li>rs17260829</li><li>rs13210446</li>	2
Q9NRY6	57048		<li>I->V at 293: in dbSNP:rs3744549</li>									rs3744549	2
Q9NS23	11186		<li>K->Q at 21: in dbSNP:rs4688725</li><li>R->C at 53</li><li>D->E at 133</li><li>S->F at 135: prevents G1 cell cycle arrest; reduced protein phosphorylation</li><li>A->S at 137: prevents G1 cell cycle arrest; reduced protein phosphorylation; dbSNP:rs2073498</li><li>Y->C at 329</li>	<li>phosphorylation</li><li>cell cycle arrest</li>	<li>GO:0016310</li><li>GO:0007050</li>							<li>rs4688725</li><li>rs2073498</li>	2
Q9NS25	100133171		<li>V->L at 74: in dbSNP:rs3208371</li>									rs3208371	2
Q9NS39	105		<li>A->T at 44: in dbSNP:rs3793733</li><li>T->M at 210: in a colorectal cancer sample; somatic mutation</li><li>V->I at 512: in a colorectal cancer sample; somatic mutation</li><li>A->T at 626: in dbSNP:rs2271275</li>									<li>rs3793733</li><li>rs2271275</li>	2
Q9NS62	55901		<li>V->G at 125: in dbSNP:rs13313279</li><li>R->G at 224: in dbSNP:rs9536062</li><li>K->R at 768: in dbSNP:rs9536041</li>									<li>rs9536062</li><li>rs9536041</li><li>rs13313279</li>	2
Q9NS68	55504		<li>S->T at 31: in dbSNP:rs9550987</li><li>V->I at 405: in dbSNP:rs3751362</li>									<li>rs3751362</li><li>rs9550987</li>	2
Q9NS71	56287		<li>K->T at 118: in a breast cancer sample; somatic mutation</li>										2
Q9NS73	51562		<li>L->H at 7: in dbSNP:rs2899849</li><li>R->S at 22: in dbSNP:rs3168891</li>									<li>rs2899849</li><li>rs3168891</li>	2
Q9NS82	56301		<li>E->D at 112: in a family with cystinuria</li><li>R->Q at 413: in dbSNP:rs34663170</li>									rs34663170	2
Q9NS86	55915		<li>I->V at 74: in dbSNP:rs6961412</li>									rs6961412	2
Q9NS87	56992		<li>A->V at 211: in dbSNP:rs34862960</li><li>T->S at 996: in dbSNP:rs11710339</li><li>L->M at 1206: in dbSNP:rs3804583</li><li>E->D at 1272: in dbSNP:rs17076986</li>									<li>rs3804583</li><li>rs34862960</li><li>rs17076986</li><li>rs11710339</li>	2
Q9NS91	56852		<li>E->A at 6: in dbSNP:rs45520133</li><li>Q->R at 302: in dbSNP:rs373572</li><li>I->V at 307: in dbSNP rsrs45569933</li>									<li>rs45520133</li><li>rs45569933</li><li>rs373572</li>	2
Q9NS93	51768		<li>P->R at 179: in dbSNP:rs34735713</li><li>P->L at 248: in dbSNP:rs10771314</li>									<li>rs10771314</li><li>rs34735713</li>	2
Q9NS98	56920		<li>S->N at 180: in dbSNP:rs35811072</li><li>I->T at 232: in dbSNP:rs2276833</li><li>V->I at 332: in dbSNP:rs34540591</li>									<li>rs2276833</li><li>rs34540591</li><li>rs35811072</li>	2
Q9NSA1	26291		<li>L->P at 174: in dbSNP:rs739320</li>									rs739320	2
Q9NSB2	3890		<li>R->Q at 184: in dbSNP:rs1613931</li><li>S->N at 198: in dbSNP:rs1732301</li><li>I->V at 206: in dbSNP:rs2245203</li><li>R->C at 446: in dbSNP:rs951773</li><li>G->R at 497: in dbSNP:rs7297413</li>									<li>rs951773</li><li>rs2245203</li><li>rs1613931</li><li>rs7297413</li><li>rs1732301</li>	2
Q9NSB4	3888		<li>E->Q at 219: in dbSNP:rs1791634</li><li>E->D at 452: in dbSNP:rs1732263</li><li>T->M at 458: in dbSNP:rs2658658</li>									<li>rs1791634</li><li>rs2658658</li><li>rs1732263</li>	2
Q9NSB8	9455		<li>R->H at 219: in dbSNP:rs7175005</li><li>I->S at 239: in dbSNP:rs17158223</li>									<li>rs17158223</li><li>rs7175005</li>	2
Q9NSC2	6299		<li>S->SS at 150</li><li>Missing at 150</li><li>S->G at 159: in dbSNP:rs13336129</li><li>Missing at 164</li><li>G->E at 1265</li>									rs13336129	2
Q9NSC5	9454		<li>S->R at 342: in dbSNP:rs1059240</li>									rs1059240	2
Q9NSC7	55808		<li>V->A at 80: in dbSNP:rs8077382</li><li>I->V at 424: in dbSNP:rs35948039</li>									<li>rs35948039</li><li>rs8077382</li>	2
Q9NSD5	6540		<li>V->I at 426: in dbSNP:rs577294</li>									rs577294	2
Q9NSE4	55699		<li>I->V at 522: in dbSNP:rs11800305</li>									rs11800305	2
Q9NSE7			<li>S->N at 228: in dbSNP:rs2822558</li>									rs2822558	2
Q9NSG2	55732		<li>A->S at 481: in dbSNP:rs2272920</li>									rs2272920	2
Q9NSI2	85395		<li>V->L at 212: in dbSNP:rs3737075</li>									rs3737075	2
Q9NSI5	150084		<li>R->T at 49: in dbSNP:rs2205204</li><li>N->K at 156: in dbSNP:rs11908882</li><li>R->W at 170: in dbSNP:rs8129968</li><li>D->E at 350: in dbSNP:rs2837225</li>									<li>rs2837225</li><li>rs2205204</li><li>rs11908882</li><li>rs8129968</li>	2
Q9NSI6	54014		<li>Q->E at 83: in dbSNP:rs2056844</li><li>S->P at 1511: in dbSNP:rs2183573</li><li>P->L at 1699: in dbSNP:rs1041439</li>									<li>rs1041439</li><li>rs2056844</li><li>rs2183573</li>	2
Q9NSI8	64092		<li>G->A at 63: in dbSNP:rs34607574</li>									rs34607574	2
Q9NSK0	89953		<li>R->H at 72: in dbSNP:rs11558979</li>									rs11558979	2
Q9NST1	80339		<li>C->G at 99: in dbSNP:rs2076213</li><li>G->C at 115: in dbSNP:rs2076212</li><li>I->M at 148: common polymorphism; NAFLD susceptibility; associated with increased insulin secretion and obesity; dbSNP:rs738409</li><li>T->P at 216: in dbSNP:rs35726887</li><li>K->E at 434: in dbSNP:rs2294918</li><li>S->I at 453: common polymorphism; NAFLD susceptibility; dbSNP:rs6006460</li>	secretion	GO:0046903					<li>P67974</li><li>P67973</li><li>P67971</li><li>P69048</li><li>P01330</li><li>P0C236</li><li>P69047</li><li>P07453</li><li>P42633</li><li>P01324</li><li>P68243</li><li>P01320</li><li>P68992</li><li>P81423</li><li>P01328</li><li>Q9TQY7</li><li>P01340</li><li>P68990</li><li>P67969</li><li>P68991</li><li>P67968</li><li>P68245</li><li>P81881</li><li>P69046</li><li>P01336</li><li>P68988</li><li>P68987</li><li>P01334</li><li>P01316</li><li>P13190</li><li>P01331</li><li>P01314</li><li>P01319</li><li>P09477</li><li>P09476</li><li>P12703</li><li>P29335</li><li>P12704</li><li>P18109</li><li>P68989</li><li>P12708</li>		<li>rs738409</li><li>rs2076212</li><li>rs6006460</li><li>rs2076213</li><li>rs2294918</li><li>rs35726887</li>	2
Q9NSU2	11277		<li>D->N at 73: in CHBL; loss of function, MIM: 610448</li><li>R->H at 169: in AGS1 and systemic lupus erythematosus, MIM: 225750</li><li>A->V at 213: in systemic lupus erythematosus, MIM: 225750</li><li>D->DD at 255: in AGS1; heterozygous compound with H-169, MIM: 225750</li><li>D->N at 255: in AGS5; does not affect activity, MIM: 610905</li><li>V->D at 256: in AGS1, MIM: 225750</li><li>G->S at 282: in systemic lupus erythematosus; associated in cis with P-302, MIM: 225750</li><li>R->S at 295: in systemic lupus erythematosus, MIM: 225750</li><li>A->P at 302: in systemic lupus erythematosus; associated in cis with S-282, MIM: 225750</li><li>E->G at 321: in dbSNP rsrs55999987, MIM: 225750</li><li>P->L at 345: in systemic lupus erythematosus, MIM: 225750</li><li>Y->C at 360: in systemic lupus erythematosus, MIM: 225750</li><li>G->A at 361: in systemic lupus erythematosus, MIM: 225750</li>							<li>Q9Y272</li><li>Q62225</li>	<li>Chilblain lupus (CHBL) [MIM:610448]</li><li>Aicardi-Goutieres syndrome type 1 (AGS1) [MIM:225750]</li><li>Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:610905]</li>	rs55999987	2
Q9NSV4	81624		<li>N->S at 363: in dbSNP:rs36084898</li><li>F->L at 773: in dbSNP:rs35579086</li><li>E->G at 1041: in dbSNP:rs7491389</li>									<li>rs35579086</li><li>rs7491389</li><li>rs36084898</li>	2
Q9NSY1	55589		<li>V->M at 68: in a lung squamous cell carcinoma sample; somatic mutation</li><li>D->V at 212: in dbSNP rsrs56143363</li><li>R->H at 288: in dbSNP rsrs55782848</li><li>G->S at 405: in dbSNP:rs2288255</li><li>T->S at 1002: in dbSNP:rs12507099</li>									<li>rs56143363</li><li>rs12507099</li><li>rs55782848</li><li>rs2288255</li>	2
Q9NSY2	80765		<li>G->S at 74: in dbSNP:rs4384572</li>									rs4384572	2
Q9NT22	90187		<li>S->N at 532: in dbSNP:rs2235592</li>									rs2235592	2
Q9NT68			<li>V->F at 1719: in dbSNP:rs11957063</li>									rs11957063	2
Q9NTG1	10343		<li>R->Q at 528: in dbSNP:rs6008394</li><li>A->G at 669: in a breast cancer sample; somatic mutation</li><li>L->P at 914: in dbSNP:rs6519993</li><li>T->P at 992: in dbSNP:rs7291444</li><li>V->A at 993: in dbSNP:rs34798212</li><li>N->S at 1091: in dbSNP:rs6008384</li><li>I->M at 1147: in dbSNP:rs36125344</li><li>N->D at 1411: in dbSNP:rs35276226</li><li>I->M at 1528: in dbSNP:rs4823496</li><li>V->I at 1729: in dbSNP:rs9626829</li><li>T->I at 1875: in a breast cancer sample; somatic mutation</li>									<li>rs34798212</li><li>rs6519993</li><li>rs7291444</li><li>rs4823496</li><li>rs9626829</li><li>rs6008384</li><li>rs35276226</li><li>rs36125344</li><li>rs6008394</li>	2
Q9NTJ3	10051		<li>S->R at 181: in dbSNP:rs35214835</li><li>N->S at 356: in dbSNP:rs33999879</li>									<li>rs33999879</li><li>rs35214835</li>	2
Q9NTJ4	4123		<li>V->M at 950: in dbSNP:rs3803467</li><li>V->I at 960: in dbSNP:rs3803466</li><li>R->K at 975: in dbSNP:rs5745934</li>									<li>rs5745934</li><li>rs3803467</li><li>rs3803466</li>	2
Q9NTJ5	22908		<li>Y->F at 434: in dbSNP:rs1468542</li>									rs1468542	2
Q9NTK1	11067		<li>I->M at 44: in dbSNP:rs11555140</li>									rs11555140	2
Q9NTM9	51076		<li>P->L at 77: in a breast cancer sample; somatic mutation</li>										2
Q9NTN3	23169		<li>A->T at 82: in dbSNP:rs10157422</li>									rs10157422	2
Q9NTQ9	127534		<li>R->C at 103: may be associated with deafness; dbSNP:rs9426009</li><li>R->Q at 124: may be associated with deafness</li><li>F->L at 137: in EKV; associated with erythema gyratum repens in some individuals, MIM: 133200</li><li>R->C at 160: may be associated with deafness, MIM: 133200</li><li>C->W at 169: may be associated with deafness, MIM: 133200</li><li>E->A at 204: may be associated with deafness; dbSNP:rs3738346, MIM: 133200</li>								Erythrokeratodermia variabilis (EKV) [MIM:133200]	<li>rs3738346</li><li>rs9426009</li>	2
Q9NTU4	25858		<li>P->L at 68: in dbSNP:rs2286614</li>									rs2286614	2
Q9NTW7	55734		<li>D->E at 593: in a breast cancer sample; somatic mutation</li><li>K->N at 609: in a breast cancer sample; somatic mutation</li>										2
Q9NTX9	63939		<li>S->G at 95: in a breast cancer sample; somatic mutation</li><li>Y->C at 380: in dbSNP:rs6027210</li>									rs6027210	2
Q9NTZ6	10137		<li>N->S at 572: in dbSNP:rs17092928</li><li>P->L at 921: in dbSNP:rs6121012</li>									<li>rs6121012</li><li>rs17092928</li>	2
Q9NU02	63926		<li>P->T at 74: in dbSNP:rs7260784</li><li>L->Q at 324: in dbSNP:rs652633</li><li>G->E at 412: in dbSNP:rs524625</li><li>K->N at 694: in a breast cancer sample; somatic mutation</li><li>R->Q at 742: in dbSNP:rs6087119</li>									<li>rs524625</li><li>rs652633</li><li>rs6087119</li><li>rs7260784</li>	2
Q9NU22	23195		<li>F->V at 440: in dbSNP:rs4707569</li><li>I->V at 660: in dbSNP:rs12110451</li><li>A->V at 1044: in dbSNP:rs34764513</li><li>S->N at 1559: in dbSNP:rs4140446</li><li>H->D at 1929: in dbSNP:rs16882099</li><li>H->P at 2972: in dbSNP:rs34208137</li><li>E->K at 3004: in dbSNP:rs12530146</li><li>H->Y at 3423: in dbSNP:rs9294445</li><li>A->G at 3794: in dbSNP:rs34766278</li><li>R->L at 3986: in dbSNP:rs17293121</li><li>A->S at 4044: in dbSNP:rs9353689</li><li>A->T at 4167: in dbSNP:rs35509794</li><li>I->T at 4720: in dbSNP:rs16882046</li><li>D->E at 4783: in dbSNP:rs36040566</li><li>N->K at 5251: in dbSNP:rs4707557</li>									<li>rs16882046</li><li>rs9294445</li><li>rs35509794</li><li>rs16882099</li><li>rs36040566</li><li>rs4140446</li><li>rs34208137</li><li>rs4707557</li><li>rs4707569</li><li>rs17293121</li><li>rs12530146</li><li>rs34766278</li><li>rs9353689</li><li>rs34764513</li><li>rs12110451</li>	2
Q9NU23	57226		<li>R->W at 34: in dbSNP:rs11553069</li><li>K->E at 46: in dbSNP:rs34012596</li><li>T->P at 60: in dbSNP:rs1055889</li>									<li>rs34012596</li><li>rs1055889</li><li>rs11553069</li>	2
Q9NU63			<li>N->S at 114: in dbSNP:rs9461544</li><li>R->H at 166: in TNDM1, MIM: 601410</li><li>H->N at 193: in TNDM1, MIM: 601410</li><li>D->V at 284: in dbSNP:rs2535241, MIM: 601410</li><li>H->D at 374: in TNDM1, MIM: 601410</li>								Transient neonatal diabetes mellitus type 1 (TNDM1) [MIM:601410]	<li>rs2535241</li><li>rs9461544</li>	2
Q9NUA8	9923		<li>A->T at 225: in dbSNP:rs6659222</li><li>M->I at 267: in dbSNP:rs36115661</li><li>Y->C at 595: in dbSNP:rs209729</li><li>V->M at 997: in dbSNP:rs209720</li>									<li>rs209729</li><li>rs36115661</li><li>rs209720</li><li>rs6659222</li>	2
Q9NUB1	84532		<li>V->M at 488: in dbSNP:rs6050249</li>									rs6050249	2
Q9NUJ1	55347		<li>I->V at 251: in dbSNP:rs17429033</li>									rs17429033	2
Q9NUJ3	55346		<li>H->Q at 109: in dbSNP:rs16923785</li><li>K->R at 178: in dbSNP:rs2273549</li>									<li>rs16923785</li><li>rs2273549</li>	2
Q9NUL3	27067		<li>M->V at 198: in dbSNP:rs949493</li>									rs949493	2
Q9NUL7	55794		<li>A->T at 4: in dbSNP:rs237831</li>									rs237831	2
Q9NUM3	55334		<li>E->D at 64: in dbSNP:rs2296723</li><li>M->T at 221: in dbSNP:rs2232059</li><li>R->C at 285: in dbSNP:rs17855898</li>									<li>rs2232059</li><li>rs17855898</li><li>rs2296723</li>	2
Q9NUM4	54664		<li>T->S at 185: in dbSNP:rs3173615</li>									rs3173615	2
Q9NUN5	55788	<ul><li>N->Q at 78: Does not affect glycosylation status; when associated with Q-88</li><li>N->Q at 88: Does not affect glycosylation status; when associated with Q-78</li><li>N->Q at 448: Affects glycosylation status; when associated with Q-457</li><li>N->Q at 457: Affects glycosylation status. Affects glycosylation status; when associated with Q-448</li></ul>	<li>T->A at 144: in dbSNP:rs12214456</li><li>I->V at 395: in dbSNP:rs17854411</li><li>D->E at 469: in dbSNP:rs9354880</li>									<li>rs17854411</li><li>rs12214456</li><li>rs9354880</li>	3
Q9NUQ2	55326		<li>Y->C at 77: in dbSNP:rs17077958</li>									rs17077958	2
Q9NUQ3	55787		<li>I->V at 246: in dbSNP:rs5969783</li>									rs5969783	2
Q9NUQ7	55325		<li>N->T at 77: in dbSNP:rs17850669</li>									rs17850669	2
Q9NUQ8	55324		<li>P->L at 503: in dbSNP:rs11706273</li><li>R->H at 510: in dbSNP:rs9811715</li>									<li>rs9811715</li><li>rs11706273</li>	2
Q9NUQ9	51571		<li>N->K at 169</li>										2
Q9NUR3	55321		<li>L->M at 33: in dbSNP:rs35393697</li>									rs35393697	2
Q9NUU6	54491		<li>F->L at 319: in dbSNP:rs16903574</li>									rs16903574	2
Q9NUV7	55304		<li>L->V at 140: in dbSNP:rs243887</li>									rs243887	2
Q9NUV9	55303		<li>E->D at 128: in dbSNP:rs2293172</li>									rs2293172	2
Q9NUX5	25913		<li>V->M at 529: in dbSNP:rs34973253</li>									rs34973253	2
Q9NUZ1	55289		<li>T->M at 255: in dbSNP:rs1554005</li><li>P->L at 535: in dbSNP:rs17041850</li>									<li>rs17041850</li><li>rs1554005</li>	2
Q9NV06	25879		<li>I->V at 42: in dbSNP:rs3134253</li><li>N->S at 70: in dbSNP:rs13272825</li>									<li>rs3134253</li><li>rs13272825</li>	2
Q9NV12	55281		<li>P->S at 6: in dbSNP:rs292500</li><li>R->Q at 7: in dbSNP:rs3800592</li><li>Q->E at 11: in dbSNP:rs11558290</li><li>L->F at 29: in dbSNP:rs292501</li><li>A->E at 112: in a colorectal cancer sample; somatic mutation</li>									<li>rs11558290</li><li>rs292501</li><li>rs292500</li><li>rs3800592</li>	2
Q9NV44			<li>E->G at 2: in dbSNP:rs928777</li>									rs928777	2
Q9NV64	55254		<li>S->L at 247: in a breast cancer sample; somatic mutation</li><li>A->T at 487: in dbSNP:rs1132200</li>									rs1132200	2
Q9NV66	55253		<li>G->V at 462: in dbSNP:rs2261015</li><li>H->R at 632: in dbSNP:rs2949097</li><li>D->N at 671: in dbSNP:rs28450001</li>									<li>rs2949097</li><li>rs28450001</li><li>rs2261015</li>	2
Q9NV72	55762		<li>P->L at 4: in dbSNP:rs162832</li><li>I->T at 116: in dbSNP:rs366793</li><li>K->T at 271: in dbSNP:rs373554</li><li>R->C at 455: in dbSNP:rs444172</li>									<li>rs373554</li><li>rs366793</li><li>rs444172</li><li>rs162832</li>	2
Q9NV92	54602		<li>A->V at 136: in dbSNP:rs11549502</li>									rs11549502	2
Q9NVA1	55245		<li>W->S at 44: in a breast cancer sample; somatic mutation</li><li>Q->R at 51: in dbSNP:rs4911494</li><li>P->L at 85: in dbSNP:rs6088810</li>									<li>rs6088810</li><li>rs4911494</li>	2
Q9NVC3	55238		<li>L->P at 46: in dbSNP:rs7193572</li><li>T->I at 78: in dbSNP:rs7191331</li>									<li>rs7193572</li><li>rs7191331</li>	2
Q9NVD3	54093		<li>I->V at 387: in dbSNP:rs2835239</li><li>E->G at 420: in a colorectal cancer sample; somatic mutation</li>									rs2835239	2
Q9NVE4	55231		<li>F->L at 217: in dbSNP:rs17853294</li>									rs17853294	2
Q9NVE5	55230		<li>V->A at 666: in dbSNP:rs838543</li><li>R->C at 1111: in dbSNP:rs1048603</li>									<li>rs1048603</li><li>rs838543</li>	2
Q9NVE7	55229		<li>E->K at 475: in a colorectal cancer sample; somatic mutation</li><li>A->V at 547: in dbSNP:rs7535528</li><li>Q->R at 684: in dbSNP:rs2494620</li>									<li>rs2494620</li><li>rs7535528</li>	2
Q9NVF9			<li>R->Q at 227: in dbSNP:rs3737657</li>									rs3737657	2
Q9NVH0	55218		<li>D->N at 106: in dbSNP:rs35010854</li><li>Q->H at 393: in dbSNP:rs8007859</li>									<li>rs35010854</li><li>rs8007859</li>	2
Q9NVH1	55735		<li>V->M at 267: in dbSNP:rs12137794</li><li>T->A at 290: in dbSNP:rs200454</li>									<li>rs12137794</li><li>rs200454</li>	2
Q9NVH2	25896		<li>H->R at 425: in dbSNP:rs17851788</li>									rs17851788	2
Q9NVI1	55215		<li>P->L at 55: in FA; could be a polymorphism; no effect on ubiquitination and DNA repair</li><li>A->V at 86: in dbSNP:rs17803620</li><li>Q->K at 686: in dbSNP:rs28378332</li><li>C->S at 742: in dbSNP:rs2283432</li><li>H->Y at 858: in FA</li><li>R->Q at 1285: in FA/FANCI; abolishes function in DNA repair</li>	DNA repair	GO:0006281							<li>rs2283432</li><li>rs28378332</li><li>rs17803620</li>	2
Q9NVI7	55210		<li>G->D at 15: in dbSNP:rs2274435</li>									rs2274435	2
Q9NVL1	55199		<li>S->A at 7: in dbSNP:rs12283300</li><li>P->R at 30: in dbSNP:rs12283346</li><li>A->V at 70: in dbSNP:rs3935309</li>									<li>rs3935309</li><li>rs12283300</li><li>rs12283346</li>	2
Q9NVL8	55195		<li>Y->C at 235: in dbSNP:rs1152530</li>									rs1152530	2
Q9NVM9	55726		<li>M->T at 66: in dbSNP:rs2306852</li><li>S->P at 227: in a colorectal cancer sample; somatic mutation</li>									rs2306852	2
Q9NVP1	8886		<li>G->R at 41: in a breast cancer sample; somatic mutation</li><li>T->S at 94: in dbSNP:rs1052637</li><li>K->R at 647: in dbSNP:rs10179772</li>									<li>rs10179772</li><li>rs1052637</li>	2
Q9NVQ4	55179		<li>A->T at 117: in dbSNP:rs641320</li><li>L->S at 127: in dbSNP:rs13043</li>									<li>rs641320</li><li>rs13043</li>	2
Q9NVR5	55172		<li>D->G at 768: in dbSNP:rs9989177</li>									rs9989177	2
Q9NVR7	55171		<li>K->R at 149: in dbSNP:rs7619912</li>									rs7619912	2
Q9NVS9	55163		<li>E->K at 50</li><li>R->Q at 116: in dbSNP:rs17679445</li><li>R->W at 229: in PNPO deficiency; strong activity decrease, MIM: 610090</li>							<li>Q9NVS9</li><li>Q5E9K3</li>	Pyridoxine-5'-phosphate oxidase deficiency (PNPO deficiency) [MIM:610090]	rs17679445	2
Q9NVU0	55718		<li>S->A at 46: in dbSNP:rs2347</li>									rs2347	2
Q9NVU7	55153		<li>K->Q at 258: in dbSNP:rs15481</li><li>A->D at 490: in dbSNP:rs34627298</li><li>C->S at 575: in dbSNP:rs2242471</li><li>V->I at 660: in dbSNP:rs17001276</li>									<li>rs34627298</li><li>rs2242471</li><li>rs15481</li><li>rs17001276</li>	2
Q9NVV0	55151		<li>C->S at 254: in dbSNP:rs35232724</li>									rs35232724	2
Q9NVV2	55150		<li>S->G at 106: in dbSNP:rs2232003</li>									rs2232003	2
Q9NVV4	55149		<li>R->C at 162: in dbSNP:rs1047991</li><li>Y->H at 221: in dbSNP:rs17855118</li><li>C->R at 419: in dbSNP:rs17857517</li><li>S->N at 546: in dbSNP:rs17855116</li>									<li>rs1047991</li><li>rs17855116</li><li>rs17857517</li><li>rs17855118</li>	2
Q9NVX0	55142		<li>T->P at 76: in dbSNP:rs34678957</li>									rs34678957	2
Q9NVX2	54475		<li>Q->K at 319: in a breast cancer sample; somatic mutation</li>										2
Q9NVX7	55709		<li>D->N at 330: in dbSNP:rs11039302</li>									rs11039302	2
Q9NVZ3	55707		<li>D->A at 149: in dbSNP:rs35056694</li>									rs35056694	2
Q9NW13	55131		<li>E->Q at 253: in dbSNP:rs11554671</li><li>L->P at 351: in ANE syndrome, MIM: 612079</li>								Alopecia, neurologic defects, and endocrinopathy syndrome (ANE syndrome) [MIM:612079]	rs11554671	2
Q9NW15	55129		<li>R->Q at 462: in dbSNP:rs3772165</li><li>T->M at 561: in dbSNP:rs17409162</li><li>V->A at 583: in dbSNP:rs17853862</li>									<li>rs3772165</li><li>rs17409162</li><li>rs17853862</li>	2
Q9NW97	55092		<li>V->A at 34: in dbSNP:rs17405421</li><li>R->Q at 92: in dbSNP:rs3766158</li>									<li>rs3766158</li><li>rs17405421</li>	2
Q9NWF4	55065		<li>R->Q at 70: in dbSNP:rs346822</li><li>A->V at 271: in dbSNP:rs346821</li><li>V->M at 296: in dbSNP:rs2304445</li>									<li>rs346821</li><li>rs2304445</li><li>rs346822</li>	2
Q9NWH7	54558		<li>R->W at 333: in dbSNP:rs1338314</li><li>C->Y at 478: in dbSNP:rs1056042</li>									<li>rs1338314</li><li>rs1056042</li>	2
Q9NWH9	79811		<li>V->L at 235: in dbSNP:rs7175939</li>									rs7175939	2
Q9NWK9	54680		<li>G->R at 9: in dbSNP:rs17399721</li><li>L->H at 455: in a colorectal cancer sample; somatic mutation</li>									rs17399721	2
Q9NWL6	54529		<li>R->G at 190: in dbSNP:rs1437880</li><li>M->T at 434: in dbSNP:rs35137531</li>									<li>rs1437880</li><li>rs35137531</li>	2
Q9NWM3	404093		<li>R->H at 169: in dbSNP:rs17762338</li><li>P->S at 205: in dbSNP:rs2304942</li><li>R->Q at 316: in dbSNP:rs34800498</li>									<li>rs34800498</li><li>rs2304942</li><li>rs17762338</li>	2
Q9NWN3	55030		<li>V->A at 432: in dbSNP:rs35070799</li><li>I->N at 470: in dbSNP:rs1045002</li><li>L->P at 533: in dbSNP:rs3742569</li><li>G->V at 704: in dbSNP:rs10138395</li>									<li>rs1045002</li><li>rs3742569</li><li>rs10138395</li><li>rs35070799</li>	2
Q9NWQ9	55017		<li>L->V at 16: in dbSNP:rs35065609</li>									rs35065609	2
Q9NWR8	55013		<li>Y->F at 253: in dbSNP:rs13846</li><li>I->V at 255: in dbSNP:rs1053680</li>									<li>rs13846</li><li>rs1053680</li>	2
Q9NWS0	55011		<li>M->L at 9: in dbSNP:rs2293012</li><li>G->E at 10: in dbSNP:rs2293013</li><li>V->I at 224: in dbSNP:rs13394</li><li>D->E at 230: in dbSNP:rs34198213</li><li>P->L at 287: in dbSNP:rs7462</li>									<li>rs7462</li><li>rs34198213</li><li>rs13394</li><li>rs2293012</li><li>rs2293013</li>	2
Q9NWS1	55010		<li>V->M at 400: in dbSNP:rs12227879</li>									rs12227879	2
Q9NWS6	55007		<li>L->V at 129: in dbSNP:rs11556482</li><li>H->R at 239: in dbSNP:rs6007594</li>									<li>rs6007594</li><li>rs11556482</li>	2
Q9NWS8	55005		<li>S->I at 42: in dbSNP:rs11550103</li><li>R->H at 47: in dbSNP:rs6934360</li><li>T->M at 132: in dbSNP:rs3734800</li>									<li>rs11550103</li><li>rs3734800</li><li>rs6934360</li>	2
Q9NWS9	55663		<li>N->H at 192: in dbSNP:rs893185</li><li>P->S at 300: in dbSNP:rs36095067</li><li>R->H at 387: in dbSNP:rs882610</li>									<li>rs36095067</li><li>rs882610</li><li>rs893185</li>	2
Q9NWT8	54998		<li>Q->H at 107: in dbSNP:rs3736374</li>									rs3736374	2
Q9NWU1	54995		<li>F->I at 106: in a breast cancer sample; somatic mutation</li>										2
Q9NWU5	29093		<li>G->S at 154: in dbSNP:rs3749671</li>									rs3749671	2
Q9NWW5	54982		<li>R->H at 62: in vLINCL, MIM: 601780</li><li>E->Q at 72: in vLINCL, MIM: 601780</li><li>G->D at 123: in vLINCL: in dbSNP rsrs28939384, MIM: 601780</li><li>Missing  at 154: in vLINCL, MIM: 601780</li><li>Missing  at 171: in vLINCL, MIM: 601780</li><li>Y->S at 221: in vLINCL, MIM: 601780</li><li>M->T at 241: in vLINCL, MIM: 601780</li><li>Missing  at 265: in vLINCL, MIM: 601780</li><li>P->L at 299: in vLINCL, MIM: 601780</li><li>W->R at 300: in vLINCL, MIM: 601780</li>								Variant late-onset infantile neuronal ceroid lipofuscinosis (vLINCL) [MIM:601780]	rs28939384	2
Q9NWW7	54980		<li>Q->P at 314: in dbSNP:rs3213941</li>									rs3213941	2
Q9NWX6	54974		<li>L->P at 232: in dbSNP:rs2270812</li>									rs2270812	2
Q9NWY4	54969		<li>K->R at 174: in dbSNP:rs1047642</li><li>E->D at 331: in dbSNP:rs1047706</li>									<li>rs1047706</li><li>rs1047642</li>	2
Q9NWZ8	54960		<li>E->V at 195: in dbSNP:rs3747421</li>									rs3747421	2
Q9NX00	54958		<li>G->S at 120: in dbSNP:rs11083857</li>									rs11083857	2
Q9NX02	55655		<li>T->M at 221: in dbSNP:rs17699678</li><li>E->Q at 302: in dbSNP:rs3745904</li><li>R->K at 364: in dbSNP:rs4306647</li><li>A->E at 1052: in dbSNP:rs1043673</li>									<li>rs4306647</li><li>rs17699678</li><li>rs1043673</li><li>rs3745904</li>	2
Q9NX05	54954		<li>T->I at 82: in dbSNP:rs2495783</li>									rs2495783	2
Q9NX08	54951		<li>A->P at 17: in dbSNP:rs35444219</li>									rs35444219	2
Q9NX20	54948		<li>G->S at 29: in dbSNP:rs7122468</li><li>R->Q at 199: in dbSNP:rs12787462</li><li>R->C at 207: in dbSNP:rs491671</li>									<li>rs7122468</li><li>rs12787462</li><li>rs491671</li>	2
Q9NX31	51526		<li>V->G at 74: in dbSNP:rs9346</li>									rs9346	2
Q9NX45	54937		<li>S->L at 14: in dbSNP:rs12873478</li><li>A->T at 339: in dbSNP:rs2296968</li>									<li>rs12873478</li><li>rs2296968</li>	2
Q9NX55	25764		<li>S->P at 151: in dbSNP:rs12702</li>									rs12702	2
Q9NX57	55647		<li>N->S at 134: in dbSNP:rs426453</li>									rs426453	2
Q9NX58	55646		<li>D->Y at 151: in dbSNP:rs2272739</li><li>H->R at 265: in dbSNP:rs7376390</li>									<li>rs7376390</li><li>rs2272739</li>	2
Q9NX61	54929		<li>E->V at 85: in a breast cancer sample; somatic mutation</li>										2
Q9NX65	54925		<li>A->V at 54: in dbSNP:rs17136369</li><li>Y->H at 120: in dbSNP:rs27230</li>									<li>rs17136369</li><li>rs27230</li>	2
Q9NX94	54838		<li>S->P at 302: in dbSNP:rs284860</li><li>A->S at 320: in dbSNP:rs284859</li>									<li>rs284859</li><li>rs284860</li>	2
Q9NXA8	23408		<li>F->L at 285: in dbSNP:rs9464003</li><li>E->G at 305: in dbSNP:rs34162626</li>									<li>rs34162626</li><li>rs9464003</li>	2
Q9NXB9	54898		<li>T->A at 216: in dbSNP:rs17855038</li><li>V->M at 225: in dbSNP:rs6919726</li>									<li>rs6919726</li><li>rs17855038</li>	2
Q9NXD2	54893		<li>R->H at 648: in dbSNP:rs6493352</li>									rs6493352	2
Q9NXF7	54876		<li>N->S at 45: in dbSNP:rs34085539</li><li>T->I at 129: in dbSNP:rs7690457</li>									<li>rs34085539</li><li>rs7690457</li>	2
Q9NXF8	55625		<li>D->N at 44: in a colorectal cancer sample; somatic mutation</li><li>V->I at 201: in dbSNP:rs13334011</li>									rs13334011	2
Q9NXG0	54875		<li>R->C at 562: in dbSNP:rs3808782</li><li>I->T at 695: in dbSNP:rs7035276</li><li>T->A at 1376: in dbSNP:rs2499057</li>									<li>rs7035276</li><li>rs2499057</li><li>rs3808782</li>	2
Q9NXG2	55623		<li>E->D at 311: in dbSNP:rs11074471</li>									rs11074471	2
Q9NXI6	54546		<li>A->T at 23: in dbSNP:rs1541185</li><li>P->T at 208: in dbSNP:rs35541730</li>									<li>rs35541730</li><li>rs1541185</li>	2
Q9NXK6	54852		<li>I->T at 24: in dbSNP:rs17853893</li>									rs17853893	2
Q9NXL2	54848		<li>K->N at 67: in a breast cancer sample; somatic mutation</li><li>M->V at 88: in dbSNP:rs2276970</li>									rs2276970	2
Q9NXN4	54834		<li>P->R at 95: in dbSNP:rs12752437</li><li>G->S at 106: in dbSNP:rs12753610</li><li>Q->P at 312: in dbSNP:rs12145577</li><li>T->A at 489: in dbSNP:rs34924570</li>									<li>rs12752437</li><li>rs12753610</li><li>rs34924570</li><li>rs12145577</li>	2
Q9NXP7			<li>G->C at 22: in dbSNP:rs17851289</li><li>M->T at 239: in dbSNP:rs34813</li>									<li>rs17851289</li><li>rs34813</li>	2
Q9NXR5	55608		<li>P->L at 320: in dbSNP:rs3742185</li>									rs3742185	2
Q9NXR8	54556		<li>D->G at 20: in HNSCC, MIM: 275355</li>								Head and neck squamous cell carcinomas (HNSCC) [MIM:275355]		2
Q9NXS2	54814		<li>P->L at 214: in dbSNP:rs28708996</li>									rs28708996	2
Q9NXW2	54788		<li>E->K at 304: in dbSNP:rs3750784</li>									rs3750784	2
Q9NXZ1	55511		<li>N->K at 741: in dbSNP:rs35470903</li><li>L->S at 805: in dbSNP:rs4829799</li>									<li>rs4829799</li><li>rs35470903</li>	2
Q9NY15	23166		<li>M->T at 2506: in dbSNP:rs13303</li>									rs13303	2
Q9NY27	151987		<li>P->L at 174: in dbSNP:rs2306983</li><li>S->C at 282: in dbSNP:rs34742137</li>									<li>rs34742137</li><li>rs2306983</li>	2
Q9NY28	26290		<li>Y->D at 53: in dbSNP:rs10849133</li><li>Y->N at 53</li><li>E->K at 234: in dbSNP:rs16931676</li><li>E->G at 267: in dbSNP:rs34776842</li><li>F->S at 312: in dbSNP rsrs34829532</li><li>A->V at 337</li><li>D->G at 438</li><li>V->F at 515: in dbSNP:rs1468556</li><li>V->M at 611: in dbSNP:rs34114277</li><li>D->G at 630: in dbSNP:rs16931692</li>									<li>rs16931676</li><li>rs34776842</li><li>rs1468556</li><li>rs34829532</li><li>rs10849133</li><li>rs16931692</li><li>rs34114277</li>	2
Q9NY33	10072		<li>R->H at 76: in dbSNP:rs11826683</li><li>Q->H at 145: in dbSNP:rs11550299</li><li>R->H at 678: in dbSNP:rs2305535</li><li>E->K at 690: in dbSNP:rs12421620</li>									<li>rs12421620</li><li>rs2305535</li><li>rs11550299</li><li>rs11826683</li>	2
Q9NY47	9254		<li>A->V at 138: in dbSNP:rs35497591</li>									rs35497591	2
Q9NY56	29991		<li>N->K at 61: in dbSNP:rs3180357</li><li>M->T at 159: in dbSNP:rs2853652</li>									<li>rs3180357</li><li>rs2853652</li>	2
Q9NY57	55351		<li>G->E at 35: in a metastatic melanoma sample; somatic mutation</li><li>R->G at 198: in dbSNP:rs3733182</li><li>R->H at 244: in dbSNP:rs35207488</li><li>D->V at 310: in dbSNP rsrs56259884</li><li>K->T at 342: in dbSNP rsrs55961955</li>									<li>rs56259884</li><li>rs55961955</li><li>rs35207488</li><li>rs3733182</li>	2
Q9NY65	51807		<li>A->V at 128: in dbSNP:rs2234331</li><li>Q->R at 301: in dbSNP:rs2234333</li>									<li>rs2234331</li><li>rs2234333</li>	2
Q9NY72	55800		<li>Q->L at 89: in a colorectal cancer sample; somatic mutation</li><li>S->N at 97: in dbSNP:rs35174956</li><li>A->T at 195: in a colorectal cancer sample; somatic mutation</li>									rs35174956	2
Q9NY74	54465		<li>E->D at 50: in a colorectal cancer sample; somatic mutation</li><li>M->T at 221: in dbSNP:rs13036061</li><li>S->N at 389: in dbSNP:rs3770657</li><li>P->L at 715: in dbSNP:rs3770656</li><li>P->S at 771: in dbSNP:rs3770655</li>									<li>rs3770657</li><li>rs3770655</li><li>rs3770656</li><li>rs13036061</li>	2
Q9NY84	55350		<li>H->R at 33: in dbSNP rsrs764264</li><li>T->A at 89: in dbSNP rsrs36012859</li><li>E->K at 91: in dbSNP rsrs12174042</li><li>V->A at 222: in dbSNP rsrs6569834</li>									<li>rs764264</li><li>rs12174042</li><li>rs36012859</li><li>rs6569834</li>	2
Q9NY87	64663		<li>V->F at 59</li><li>V->L at 59: in dbSNP:rs16993705</li>									rs16993705	2
Q9NY91	6527		<li>T->M at 4: in dbSNP:rs16990065</li><li>A->T at 46: in dbSNP:rs2235171</li>									<li>rs2235171</li><li>rs16990065</li>	2
Q9NY99	54221		<li>S->Y at 168: in dbSNP:rs28505970</li><li>S->L at 200: in dbSNP:rs6751090</li><li>I->V at 391: in dbSNP:rs13023962</li>									<li>rs13023962</li><li>rs6751090</li><li>rs28505970</li>	2
Q9NYA3	342096		<li>W->R at 200: in dbSNP:rs2018461</li>									rs2018461	2
Q9NYA4	9110		<li>V->L at 170: in dbSNP:rs3744108</li><li>S->G at 280: in dbSNP:rs2302190</li><li>V->G at 297: in dbSNP:rs2302189</li>									<li>rs3744108</li><li>rs2302189</li><li>rs2302190</li>	2
Q9NYB0	54386		<li>K->E at 324: in dbSNP:rs4888444</li>									rs4888444	2
Q9NYC9	1770		<li>R->H at 151: in dbSNP:rs17599639</li><li>R->Q at 445: in dbSNP:rs9892256</li><li>R->L at 771: in a breast cancer sample; somatic mutation</li><li>R->W at 842: in dbSNP:rs16945138</li><li>R->W at 1158: in dbSNP:rs8070501</li><li>T->A at 1221: in dbSNP:rs9916482</li><li>M->V at 2087: in dbSNP:rs9892290</li><li>N->S at 2195: in dbSNP:rs3744581</li><li>Q->H at 2438: in dbSNP:rs2277658</li><li>D->H at 2653: in a breast cancer sample; somatic mutation</li><li>K->R at 2961: in dbSNP:rs11870983</li><li>K->N at 2968: in dbSNP:rs11871037</li><li>T->N at 3664: in a breast cancer sample; somatic mutation</li><li>R->Q at 3726: in dbSNP:rs16945431</li><li>R->W at 3726: in dbSNP:rs3760436</li><li>D->N at 4036: in dbSNP:rs17612861</li><li>M->I at 4374: in dbSNP:rs1990236</li><li>R->C at 4443: in dbSNP:rs9913494</li><li>W->R at 4462: in dbSNP:rs8074656</li>									<li>rs1990236</li><li>rs9916482</li><li>rs9892290</li><li>rs9913494</li><li>rs9892256</li><li>rs16945431</li><li>rs17612861</li><li>rs8074656</li><li>rs3760436</li><li>rs17599639</li><li>rs11871037</li><li>rs2277658</li><li>rs16945138</li><li>rs3744581</li><li>rs8070501</li><li>rs11870983</li>	2
Q9NYF0	51339		<li>G->C at 124: in a colorectal cancer sample; somatic mutation</li><li>D->N at 446: in dbSNP:rs34015825</li><li>A->V at 464: in dbSNP:rs17832998</li><li>S->A at 628: in dbSNP:rs17094821</li><li>S->L at 682: in a colorectal cancer sample; somatic mutation</li><li>G->S at 697: in dbSNP:rs698025</li>									<li>rs17094821</li><li>rs34015825</li><li>rs17832998</li><li>rs698025</li>	2
Q9NYF3	51307		<li>R->C at 21: in dbSNP:rs35360938</li>									rs35360938	2
Q9NYF5	51306		<li>M->V at 802: in dbSNP:rs33956817</li>									rs33956817	2
Q9NYF8	9774		<li>S->C at 209: in dbSNP:rs6940018</li><li>Y->D at 459: in dbSNP:rs1967446</li><li>L->H at 461: in dbSNP:rs1967445</li><li>N->S at 629: in dbSNP:rs7381749</li><li>R->C at 875: in dbSNP:rs34541670</li>									<li>rs1967445</li><li>rs7381749</li><li>rs1967446</li><li>rs34541670</li><li>rs6940018</li>	2
Q9NYG2	51304		<li>H->Q at 220: in dbSNP:rs3210849</li>									rs3210849	2
Q9NYG8	50801		<li>P->L at 328: in dbSNP:rs953778</li>									rs953778	2
Q9NYH9	55813		<li>K->R at 35: in dbSNP:rs16967042</li><li>Q->R at 69: in dbSNP:rs3760454</li><li>L->V at 134: in dbSNP:rs34859443</li>									<li>rs16967042</li><li>rs34859443</li><li>rs3760454</li>	2
Q9NYI0	23362		<li>T->M at 186: in dbSNP:rs7016219</li><li>T->P at 186: in dbSNP:rs7003060</li><li>P->L at 293: in dbSNP:rs13263453</li>									<li>rs13263453</li><li>rs7003060</li><li>rs7016219</li>	2
Q9NYJ7	10683		<li>A->T at 115</li><li>L->Q at 142: in dbSNP:rs55741253</li><li>F->C at 172: in dbSNP:rs8107127</li><li>L->P at 218: in dbSNP:rs1110627</li><li>G->D at 385: in SCDO1, MIM: 277300</li>								Spondylocostal dysostosis autosomal recessive type 1 (SCDO1) [MIM:277300]	<li>rs55741253</li><li>rs1110627</li><li>rs8107127</li>	2
Q9NYK1	51284		<li>Q->L at 11: in dbSNP:rs179008</li><li>A->V at 448: in dbSNP:rs5743781</li>									<li>rs5743781</li><li>rs179008</li>	2
Q9NYK5	54148		<li>P->S at 31: in dbSNP:rs3989369</li>									rs3989369	2
Q9NYK6	54149		<li>N->K at 115: in dbSNP:rs2824495</li><li>Q->R at 117: in dbSNP:rs1047976</li><li>D->E at 136: in dbSNP:rs1047978</li><li>Q->H at 195: in dbSNP:rs8128004</li><li>Y->H at 217: in dbSNP:rs2824494</li>									<li>rs2824495</li><li>rs2824494</li><li>rs1047978</li><li>rs1047976</li><li>rs8128004</li>	2
Q9NYL5	51302		<li>R->P at 23: in dbSNP:rs12192544</li><li>R->H at 103: in dbSNP:rs2277119</li><li>Y->H at 288: in dbSNP:rs17856332</li><li>N->K at 324: in dbSNP:rs7761731</li>									<li>rs12192544</li><li>rs7761731</li><li>rs17856332</li><li>rs2277119</li>	2
Q9NYM4	10888		<li>P->Q at 374: in dbSNP:rs3740868</li>									rs3740868	2
Q9NYQ3	51179		<li>E->K at 15: in dbSNP:rs34638261</li><li>L->M at 221: in dbSNP:rs6661625</li>									<li>rs34638261</li><li>rs6661625</li>	2
Q9NYQ6	9620		<li>I->V at 587: in dbSNP:rs34141466</li><li>S->W at 664: in dbSNP:rs4823850</li><li>C->R at 1126: in dbSNP:rs4823561</li><li>V->I at 1242: in dbSNP:rs6008842</li><li>Y->H at 1894: in dbSNP:rs34467708</li><li>L->P at 1994: in dbSNP:rs6008795</li><li>L->P at 1995: in dbSNP:rs6008794</li><li>T->M at 2045: in dbSNP:rs12169391</li><li>I->V at 2107: in dbSNP:rs4044210</li><li>R->H at 2219: in dbSNP:rs34267201</li><li>T->A at 2268: in dbSNP:rs6007897</li><li>C->S at 2797: in dbSNP:rs12165943</li><li>E->Q at 2903: in dbSNP:rs9615351</li><li>G->S at 2948: in dbSNP:rs35364389</li>									<li>rs34467708</li><li>rs12169391</li><li>rs12165943</li><li>rs6008795</li><li>rs34267201</li><li>rs4823561</li><li>rs6008842</li><li>rs9615351</li><li>rs35364389</li><li>rs6008794</li><li>rs4823850</li><li>rs4044210</li><li>rs6007897</li><li>rs34141466</li>	2
Q9NYQ7	1951		<li>A->P at 157: in dbSNP:rs3733085</li><li>S->T at 805: in dbSNP:rs3821875</li><li>Q->R at 1758: in dbSNP:rs12107252</li>									<li>rs3733085</li><li>rs3821875</li><li>rs12107252</li>	2
Q9NYR8	50700		<li>H->Q at 136: in dbSNP:rs1122206</li><li>M->T at 202: in dbSNP:rs1644731</li>									<li>rs1122206</li><li>rs1644731</li>	2
Q9NYT0	26499		<li>T->M at 80: in dbSNP:rs34300264</li>									rs34300264	2
Q9NYU1	55757		<li>A->T at 323: in dbSNP:rs12863903</li><li>A->S at 328: in dbSNP:rs816142</li><li>M->L at 994: in dbSNP:rs12876018</li>									<li>rs12876018</li><li>rs12863903</li><li>rs816142</li>	2
Q9NYV4	51755		<li>P->A at 530: in dbSNP rsrs56121596</li><li>R->H at 912: in a colorectal adenocarcinoma sample; somatic mutation</li><li>L->Q at 1189: in dbSNP rsrs56362165</li><li>P->L at 1275: in dbSNP rsrs34070318</li>									<li>rs56121596</li><li>rs56362165</li><li>rs34070318</li>	2
Q9NYV6	54700		<li>I->M at 348: in dbSNP:rs2941256</li>									rs2941256	2
Q9NYV7	50833		<li>N->K at 172: associated with susceptibility to alcoholism; dbSNP:rs846664</li><li>R->H at 222: in dbSNP:rs860170</li>									<li>rs846664</li><li>rs860170</li>	2
Q9NYV8	50840		<li>T->A at 86: in dbSNP:rs16925868</li>									rs16925868	2
Q9NYV9	50838		<li>N->S at 149: in a breast cancer sample; somatic mutation</li><li>N->S at 259: in dbSNP:rs1015443</li>									rs1015443	2
Q9NYW0			<li>M->T at 156: in dbSNP:rs597468</li>									rs597468	2
Q9NYW1	50835		<li>K->Q at 170: in dbSNP:rs11054043</li><li>V->A at 187: in dbSNP:rs3741845</li><li>L->V at 238: in dbSNP:rs11054042</li>									<li>rs3741845</li><li>rs11054042</li><li>rs11054043</li>	2
Q9NYW2	50836		<li>M->V at 308: in dbSNP:rs2537817</li>									rs2537817	2
Q9NYW3	50837		<li>T->S at 263: in dbSNP:rs3759251</li><li>M->I at 304: in dbSNP:rs619381</li>									<li>rs619381</li><li>rs3759251</li>	2
Q9NYW4	54429		<li>G->S at 20: in dbSNP:rs2234013</li><li>S->I at 26: in dbSNP:rs2227264</li><li>P->L at 113: in dbSNP:rs2234014</li><li>Y->C at 167: in dbSNP:rs34529840</li><li>R->Q at 213: in dbSNP:rs2234015</li><li>R->L at 294: in dbSNP:rs2234016</li>									<li>rs2227264</li><li>rs34529840</li><li>rs2234015</li><li>rs2234016</li><li>rs2234013</li><li>rs2234014</li>	2
Q9NYW5	50832		<li>R->Q at 3: in dbSNP:rs2233995</li><li>F->S at 7: in dbSNP:rs2233998</li><li>F->L at 62: in dbSNP:rs2233999</li><li>T->M at 74: in dbSNP:rs2234000</li><li>V->L at 96: in dbSNP:rs2234001</li><li>S->N at 171: in dbSNP:rs2234002</li><li>I->V at 191: in dbSNP:rs2234003</li>									<li>rs2233995</li><li>rs2233998</li><li>rs2234001</li><li>rs2234000</li><li>rs2234002</li><li>rs2234003</li><li>rs2233999</li>	2
Q9NYW7	50834		<li>R->H at 111: in dbSNP:rs41469</li><li>C->Y at 141: in dbSNP:rs2234232</li><li>R->W at 206: in dbSNP:rs2234233</li>									<li>rs2234233</li><li>rs2234232</li><li>rs41469</li>	2
Q9NYW8	57786		<li>G->E at 229: in dbSNP:rs35352738</li>									rs35352738	2
Q9NYY1	50604		<li>R->Q at 107: in dbSNP:rs35856950</li>									rs35856950	2
Q9NYY3	10769		<li>S->T at 14: in an ovarian Endometrioid carcinoma sample; somatic mutation</li><li>G->S at 92: in a lung adenocarcinoma sample; somatic mutation</li><li>E->K at 436: in dbSNP rsrs55768901</li><li>P->L at 487: in dbSNP rsrs55645589</li>									<li>rs55645589</li><li>rs55768901</li>	2
Q9NYY8	22868		<li>S->N at 15: in dbSNP:rs3762568</li><li>V->E at 445: in dbSNP:rs13003768</li>									<li>rs3762568</li><li>rs13003768</li>	2
Q9NYZ2	51312		<li>I->V at 87: in dbSNP:rs2942194</li><li>R->Q at 96: in dbSNP:rs3736032</li>									<li>rs3736032</li><li>rs2942194</li>	2
Q9NYZ3	51512		<li>T->A at 181: in dbSNP:rs6008600</li><li>A->V at 200: in dbSNP:rs34404175</li><li>A->T at 274: in dbSNP:rs35503220</li><li>S->N at 322: in dbSNP:rs6008622</li><li>D->E at 463: in dbSNP:rs6008684</li><li>S->L at 470: in dbSNP:rs2281192</li><li>R->W at 506: in dbSNP:rs140054</li><li>A->T at 635: in dbSNP:rs16995138</li>									<li>rs35503220</li><li>rs140054</li><li>rs2281192</li><li>rs34404175</li><li>rs6008684</li><li>rs6008622</li><li>rs6008600</li><li>rs16995138</li>	2
Q9NYZ4	27181		<li>S->P at 170: in dbSNP:rs10409962</li><li>R->G at 388: in dbSNP:rs3829659</li>									<li>rs10409962</li><li>rs3829659</li>	2
Q9NZ08	51752		<li>E->K at 56: in dbSNP:rs3734016</li><li>R->P at 127: in dbSNP:rs26653</li><li>I->M at 276: in dbSNP:rs26618</li><li>G->D at 346: in dbSNP:rs27895</li><li>M->V at 349: in dbSNP:rs2287987</li><li>K->R at 528: in dbSNP:rs30187</li><li>D->G at 575: in dbSNP:rs6863093</li><li>D->N at 575: in dbSNP:rs10050860</li><li>R->Q at 725: in dbSNP:rs17482078</li><li>Q->E at 730: in dbSNP:rs27044</li>									<li>rs26618</li><li>rs27044</li><li>rs17482078</li><li>rs27895</li><li>rs3734016</li><li>rs10050860</li><li>rs30187</li><li>rs6863093</li><li>rs2287987</li><li>rs26653</li>	2
Q9NZ09	51271		<li>N->K at 357: in dbSNP:rs16935457</li>									rs16935457	2
Q9NZ43	55850		<li>S->L at 154: in dbSNP:rs414528</li>									rs414528	2
Q9NZ56	56776		<li>R->G at 1291: in dbSNP:rs12732924</li><li>R->H at 1468: in dbSNP:rs3795677</li>									<li>rs12732924</li><li>rs3795677</li>	2
Q9NZ63	51759		<li>Q->H at 70: in dbSNP:rs1237745</li>									rs1237745	2
Q9NZ94			<li>R->C at 451: in AUTSX1 and ASPGX1, MIM: 300425</li>								<li>X-linked Asperger syndrome 1 (ASPGX1) [MIM:300494]</li><li>X-linked autism 1 (AUTSX1) [MIM:300425]</li>		2
Q9NZA1	100131610		<li>P->H at 257: in dbSNP:rs35822882</li>									rs35822882	2
Q9NZC2	54209		<li>D->G at 134: in PLOSL: in dbSNP rsrs28939079, MIM: 221770</li><li>H->Y at 157: in dbSNP:rs2234255, MIM: 221770</li><li>K->N at 186: in PLOSL: in dbSNP rsrs28937876, MIM: 221770</li><li>L->P at 211: in dbSNP:rs2234256, MIM: 221770</li>								Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) [MIM:221770]	<li>rs28937876</li><li>rs2234255</li><li>rs2234256</li><li>rs28939079</li>	2
Q9NZC3	51573		<li>R->Q at 218: in dbSNP:rs2072086</li><li>E->K at 328: in dbSNP:rs34137361</li>									<li>rs34137361</li><li>rs2072086</li>	2
Q9NZC4	26298		<li>A->V at 96: in dbSNP:rs9804460</li>									rs9804460	2
Q9NZC9	50485		<li>A->G at 22: in dbSNP:rs17851400</li><li>A->T at 43: in dbSNP:rs2066524</li><li>R->H at 114: in dbSNP:rs11555797</li><li>Y->D at 206: in dbSNP:rs5014982</li><li>I->F at 207: in dbSNP:rs6734114</li><li>S->R at 315: in dbSNP:rs2066522</li><li>E->Q at 377: in dbSNP:rs2066518</li><li>D->V at 424: in dbSNP:rs2066520</li><li>L->V at 432: in a breast cancer sample; somatic mutation</li><li>A->P at 468: in SIOD, MIM: 242900</li><li>I->N at 548: in SIOD, MIM: 242900</li><li>S->L at 579: in SIOD, MIM: 242900</li><li>R->W at 586: in SIOD; impairs without abolishing annealing helicase activity but still binds selectively to fork DNA relative to ssDNA or dsDNA, MIM: 242900</li><li>R->W at 644: in SIOD, MIM: 242900</li><li>R->C at 645: in SIOD, MIM: 242900</li><li>K->Q at 647: in SIOD, MIM: 242900</li><li>K->T at 647: in SIOD, MIM: 242900</li><li>D->N at 649: in dbSNP:rs2066523, MIM: 242900</li><li>T->I at 705: in SIOD, MIM: 242900</li><li>T->M at 742: in dbSNP:rs2271336, MIM: 242900</li><li>R->Q at 764: in SIOD; abolishes annealing helicase activity but still binds selectively to fork DNA relative to ssDNA or dsDNA, MIM: 242900</li><li>R->H at 820: in SIOD, MIM: 242900</li>							<li>Q8V736</li><li>O67037</li><li>Q9UZ86</li><li>Q68772</li><li>O51934</li><li>P74759</li><li>P37987</li><li>P22657</li><li>Q04575</li><li>Q971T7</li><li>P27328</li><li>P28726</li><li>Q07630</li><li>P27327</li><li>Q9WJB2</li><li>Q3I5J6</li><li>Q66914</li><li>P16342</li><li>Q89273</li><li>P36286</li><li>Q66198</li><li>P22168</li><li>P19751</li><li>Q8V6W7</li><li>P28897</li><li>Q96725</li><li>P19811</li><li>Q91A29</li><li>O29238</li><li>P09395</li><li>P15402</li><li>Q86117</li><li>P09498</li><li>Q86119</li><li>Q58907</li><li>Q83017</li><li>Q97ZF5</li><li>Q8R979</li><li>Q6F598</li><li>Q08582</li><li>Q91AV2</li><li>P17779</li><li>O58530</li><li>O67226</li><li>Q07518</li><li>P95479</li><li>P54634</li><li>Q8ZXT5</li><li>Q9IW06</li><li>Q04544</li><li>Q975P6</li><li>Q8V439</li><li>P17965</li><li>Q91QT2</li><li>Q04561</li><li>Q97ZZ8</li><li>P27411</li><li>P27410</li><li>P27920</li><li>P22591</li><li>Q9PYA3</li><li>P20951</li><li>P15095</li><li>Q9YN02</li><li>P27407</li><li>Q06502</li><li>P18458</li><li>Q05002</li><li>Q9YCB6</li><li>P59641</li><li>Q69014</li><li>Q8B912</li><li>P27409</li><li>Q9YC75</li>	Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	<li>rs2066524</li><li>rs5014982</li><li>rs17851400</li><li>rs2066518</li><li>rs2066522</li><li>rs2271336</li><li>rs2066523</li><li>rs2066520</li><li>rs11555797</li><li>rs6734114</li>	2
Q9NZD1	55507		<li>A->D at 18: in dbSNP:rs3741822</li>									rs3741822	2
Q9NZD4	51327		<li>P->T at 100: in dbSNP:rs36018996</li>									rs36018996	2
Q9NZE8	51318		<li>P->S at 19: in dbSNP:rs12714176</li><li>A->T at 24: in dbSNP:rs17851803</li><li>R->H at 29: in dbSNP:rs1051949</li><li>A->P at 80: in dbSNP:rs34044771</li><li>P->L at 81: in dbSNP:rs3192352</li><li>Y->C at 180: in dbSNP:rs1052065</li>									<li>rs3192352</li><li>rs34044771</li><li>rs1051949</li><li>rs12714176</li><li>rs1052065</li><li>rs17851803</li>	2
Q9NZH5	10744		<li>P->R at 44: in dbSNP:rs6811863</li>									rs6811863	2
Q9NZH6	27178		<li>G->V at 31: in dbSNP:rs3811046</li><li>T->A at 42: in dbSNP:rs3811047</li><li>P->R at 50: in dbSNP:rs2708943</li><li>N->S at 54: in dbSNP:rs2723183</li><li>P->L at 108: in dbSNP:rs2723187</li><li>R->W at 152: in dbSNP:rs28947200</li><li>W->R at 164: in dbSNP:rs2708947</li><li>D->N at 218: in dbSNP:rs2723192</li>									<li>rs2708947</li><li>rs2723183</li><li>rs2708943</li><li>rs3811046</li><li>rs2723192</li><li>rs3811047</li><li>rs28947200</li><li>rs2723187</li>	2
Q9NZH7	27177		<li>R->C at 36: in dbSNP rsrs34754959</li>									rs34754959	2
Q9NZH8	56300		<li>Q->K at 69: in dbSNP:rs6707930</li>									rs6707930	2
Q9NZI5	29841		<li>N->S at 191: in dbSNP:rs16867256</li><li>V->I at 397: in dbSNP:rs2303920</li>									<li>rs2303920</li><li>rs16867256</li>	2
Q9NZI7	7342		<li>N->S at 109: in dbSNP:rs3736563</li><li>T->A at 212: in dbSNP:rs17854430</li>									<li>rs17854430</li><li>rs3736563</li>	2
Q9NZJ4	26278		<li>M->I at 1795: in a colorectal cancer sample; somatic mutation</li><li>V->A at 3369</li>										2
Q9NZJ5			<li>S->C at 135: in dbSNP:rs867529</li><li>R->Q at 165: in dbSNP:rs13045</li><li>D->V at 565</li><li>R->Q at 587: in WRS; in a Pakistani family; probable complete loss of activity, MIM: 226980</li><li>S->A at 703: in dbSNP:rs1805165, MIM: 226980</li><li>P->L at 715, MIM: 226980</li>							P23381	Wolcott-Rallison syndrome (WRS) [MIM:226980]	<li>rs1805165</li><li>rs13045</li><li>rs867529</li>	2
Q9NZJ6	51805		<li>G->S at 272: in dbSNP:rs6925344</li><li>H->Y at 329: in dbSNP:rs4144164</li>									<li>rs4144164</li><li>rs6925344</li>	2
Q9NZK5	51816		<li>H->R at 335: in dbSNP:rs2231495</li>									rs2231495	2
Q9NZL3	7767		<li>V->M at 118: in dbSNP:rs2068061</li><li>H->L at 162: in dbSNP:rs4239529</li><li>K->N at 438: in dbSNP:rs3208201</li><li>H->D at 506: in dbSNP:rs3746323</li><li>K->E at 640: in dbSNP:rs3746319</li>									<li>rs3746323</li><li>rs2068061</li><li>rs3208201</li><li>rs3746319</li><li>rs4239529</li>	2
Q9NZL4	23640		<li>Missing at 25-27</li>										2
Q9NZL6	23179		<li>Y->S at 174: in a breast cancer sample; somatic mutation</li><li>V->M at 699: in a breast cancer sample; somatic mutation</li>										2
Q9NZL9	27430		<li>A->T at 293: in dbSNP:rs17849948</li>									rs17849948	2
Q9NZM3	50618		<li>T->A at 253: in dbSNP:rs6744320</li><li>V->I at 290: in dbSNP:rs7603997</li><li>I->T at 1286: in dbSNP:rs3731625</li><li>A->T at 1533: in dbSNP:rs2303291</li>									<li>rs7603997</li><li>rs2303291</li><li>rs6744320</li><li>rs3731625</li>	2
Q9NZM5	29997		<li>S->R at 16: in dbSNP:rs1042401</li><li>Q->R at 389: in dbSNP:rs1804994</li>									<li>rs1804994</li><li>rs1042401</li>	2
Q9NZM6	27039		<li>V->I at 404: in dbSNP:rs1880458</li><li>P->L at 507: in dbSNP:rs12187140</li>									<li>rs12187140</li><li>rs1880458</li>	2
Q9NZN4	30846		<li>G->S at 57: in dbSNP:rs34140460</li>									rs34140460	2
Q9NZN5	23365		<li>Y->F at 973: in dbSNP:rs2305013</li>									rs2305013	2
Q9NZN8	4848		<li>A->T at 460: in dbSNP:rs11178192</li>									rs11178192	2
Q9NZP0	254786		<li>S->L at 69: in dbSNP:rs4318060</li><li>M->T at 133: in dbSNP:rs11835321</li><li>A->S at 234: in dbSNP:rs11832940</li>									<li>rs11832940</li><li>rs11835321</li><li>rs4318060</li>	2
Q9NZP2	341416		<li>P->A at 181: in dbSNP:rs11171466</li><li>L->P at 209: in dbSNP:rs11171467</li>									<li>rs11171467</li><li>rs11171466</li>	2
Q9NZP5	81050		<li>M->I at 200: in dbSNP:rs4518168</li>									rs4518168	2
Q9NZP6	23742		<li>P->Q at 34: in dbSNP:rs35022251</li><li>R->Q at 37: in a colorectal cancer sample; somatic mutation</li><li>V->I at 114: in a colorectal cancer sample; somatic mutation</li><li>W->R at 152: in dbSNP:rs35870568</li><li>V->A at 212: in dbSNP:rs3784246</li><li>G->R at 253: in dbSNP:rs1563102</li><li>N->S at 282: in dbSNP:rs7165533</li><li>P->A at 343: in dbSNP:rs36025315</li><li>Q->E at 406: in dbSNP:rs3742950</li><li>A->T at 757: in dbSNP:rs36032407</li><li>T->P at 929: in dbSNP:rs34413216</li>									<li>rs34413216</li><li>rs3742950</li><li>rs36032407</li><li>rs1563102</li><li>rs3784246</li><li>rs36025315</li><li>rs35022251</li><li>rs7165533</li><li>rs35870568</li>	2
Q9NZQ3	51517		<li>T->S at 324: in dbSNP:rs6785620</li>									rs6785620	2
Q9NZQ8	29850		<li>N->S at 235: in dbSNP:rs886277</li><li>V->A at 254: in dbSNP:rs3986599</li><li>V->L at 335: in dbSNP:rs34350821</li><li>A->T at 456: in dbSNP:rs34551253</li>									<li>rs34350821</li><li>rs3986599</li><li>rs886277</li><li>rs34551253</li>	2
Q9NZQ9	29765		<li>N->S at 336: in dbSNP:rs11800088</li>									rs11800088	2
Q9NZR1	29767		<li>P->A at 63: in dbSNP:rs34791185</li>									rs34791185	2
Q9NZR2	53353		<li>Q->R at 48: in dbSNP:rs12990449</li><li>Q->R at 3140: in dbSNP:rs34488772</li><li>R->C at 3157: in NSCLC cells</li><li>E->K at 3458: in dbSNP:rs1878740</li><li>Q->K at 3734: in dbSNP:rs35546150</li><li>V->L at 4264: in dbSNP:rs17386226</li>									<li>rs1878740</li><li>rs12990449</li><li>rs35546150</li><li>rs17386226</li><li>rs34488772</li>	2
Q9NZR4	30813		<li>D->E at 144: in PPCD and keratoconus, MIM: 122000</li><li>L->M at 159: in keratoconus, MIM: 148300</li><li>G->D at 160: in PPCD, MIM: 122000</li><li>R->W at 166: in keratoconus; sporadic, MIM: 148300</li><li>H->R at 244: in keratoconus; could be a polymorphism, MIM: 148300</li><li>P->R at 247: in a patient with retinal dysfunction, MIM: 148300</li>								<li>Keratoconus [MIM:148300]</li><li>Posterior polymorphous corneal dystrophy (PPCD) [MIM:122000]</li>		2
Q9NZS2	51348		<li>L->F at 67: in dbSNP:rs2232548</li>									rs2232548	2
Q9NZS9	51283		<li>M->R at 140: in dbSNP:rs11546303</li><li>R->H at 245: in dbSNP:rs35377618</li>									<li>rs35377618</li><li>rs11546303</li>	2
Q9NZT1	51806		<li>S->G at 58: in dbSNP:rs11546426</li><li>K->R at 74: in dbSNP:rs10904516</li>									<li>rs10904516</li><li>rs11546426</li>	2
Q9NZT2	11054		<li>S->T at 577: in dbSNP:rs6122315</li>									rs6122315	2
Q9NZU0	23767		<li>A->T at 377: in dbSNP:rs8120693</li><li>H->Q at 400: in dbSNP:rs6079391</li><li>E->D at 460: in dbSNP:rs35253731</li>									<li>rs35253731</li><li>rs6079391</li><li>rs8120693</li>	2
Q9NZV1	51232		<li>E->K at 502: in dbSNP:rs12997487</li>									rs12997487	2
Q9NZV5	57190		<li>T->A at 137: in dbSNP:rs35019869</li><li>C->Y at 142: in dbSNP:rs7349185</li><li>G->E at 273: in RSMD1</li><li>H->R at 293: in RSMD1 and MmD</li><li>G->S at 315: in MmD and MB-DRM</li><li>N->I at 340: in MmD</li><li>W->S at 453: in MmD</li><li>U->G at 462: in MmD</li><li>R->Q at 466: in RSMD1 and MmD</li><li>K->N at 502: in dbSNP:rs2294228</li>							O60565		<li>rs7349185</li><li>rs35019869</li><li>rs2294228</li>	2
Q9NZV7	23619		<li>A->T at 110: in dbSNP:rs2191432</li><li>Q->R at 408: in dbSNP:rs8112407</li><li>R->K at 473: in dbSNP:rs10422475</li>									<li>rs2191432</li><li>rs8112407</li><li>rs10422475</li>	2
Q9NZW4	1834		<li>Y->D at 6: in DTDP2; causes a failure of translocation of the encoded proteins into the endoplasmic reticulum and is therefore likely to lead to a loss of function of both DSP and DPP, MIM: 125420</li><li>A->V at 15: in DGI2, MIM: 125420</li><li>P->S at 17: in DGI2, MIM: 125420</li><li>P->T at 17: in DFNA39/DGI1: in dbSNP rsrs28929492, MIM: 605594</li><li>V->F at 18: in DFNA39/DGI1 and DGI3, MIM: 125500</li><li>R->W at 68: in DGI2; dbSNP:rs36094464, MIM: 125500</li><li>D->N at 243: in dbSNP:rs3750025, MIM: 125500</li>					endoplasmic reticulum	GO:0005783	<li>P15924</li><li>Q9NZW4</li><li>Q62598</li><li>P97399</li>	<li>Dentinogenesis imperfecta Shields type 3 (DGI3) [MIM:125500]</li><li>Autosomal dominant deafness type 39 with dentinogenesis imperfecta 1 syndrome (DFNA39/DGI1) [MIM:605594]</li><li>Dentin dysplasia type 2 (DTDP2) [MIM:125420]</li>	<li>rs3750025</li><li>rs28929492</li><li>rs36094464</li>	2
Q9NZZ3	51510		<li>S->P at 86: in dbSNP:rs11540558</li>									rs11540558	2
Q9P003	29097		<li>A->G at 3: in dbSNP:rs12123896</li>									rs12123896	2
Q9P035	51495		<li>E->K at 56: in dbSNP:rs11632737</li><li>M->L at 269: in dbSNP:rs2279854</li>									<li>rs2279854</li><li>rs11632737</li>	2
Q9P0J0	51079		<li>K->N at 5: in a Hurthle cell variant of papillary carcinoma sample</li><li>R->P at 115: in a Hurthle cell variant of papillary carcinoma sample</li>										2
Q9P0J1	54704		<li>Missing  at 284: in PDP deficiency; low activity</li>							<li>P35816</li><li>Q9P0J1</li><li>P25773</li>			2
Q9P0K7	26064		<li>A->T at 44: in dbSNP:rs17521570</li>									rs17521570	2
Q9P0K8	55810		<li>P->R at 229: in dbSNP:rs35642012</li><li>P->S at 310: in dbSNP:rs2277415</li>									<li>rs35642012</li><li>rs2277415</li>	2
Q9P0L0	9218		<li>M->T at 8: in dbSNP:rs1044163</li><li>P->L at 104: in dbSNP:rs1127666</li>									<li>rs1127666</li><li>rs1044163</li>	2
Q9P0L1	55888		<li>R->C at 24: in dbSNP:rs35696191</li><li>F->S at 153: in dbSNP:rs13081859</li><li>T->I at 342: in dbSNP:rs34396823</li><li>E->K at 359: in dbSNP:rs34181686</li><li>T->A at 432: in dbSNP:rs9835485</li><li>T->I at 483: in dbSNP:rs9873604</li><li>S->F at 746: in dbSNP:rs34437520</li>									<li>rs9835485</li><li>rs35696191</li><li>rs13081859</li><li>rs34181686</li><li>rs34396823</li><li>rs34437520</li><li>rs9873604</li>	2
Q9P0L9	9033		<li>R->Q at 278: in dbSNP:rs17112895</li><li>R->W at 378: in dbSNP:rs7909153</li><li>V->I at 393: in dbSNP:rs2278842</li><li>R->L at 681: in dbSNP:rs6584356</li><li>A->D at 788: in dbSNP:rs12782963</li>									<li>rs17112895</li><li>rs6584356</li><li>rs12782963</li><li>rs7909153</li><li>rs2278842</li>	2
Q9P0M2	9465		<li>E->K at 4: in dbSNP:rs7771473</li><li>S->N at 193: in dbSNP:rs1190788</li>									<li>rs1190788</li><li>rs7771473</li>	2
Q9P0M4	27189		<li>R->G at 25: in dbSNP:rs11465492</li>									rs11465492	2
Q9P0M9	51264		<li>T->A at 24: in dbSNP:rs17776919</li>									rs17776919	2
Q9P0N8	51257		<li>A->T at 54: in dbSNP:rs1133893</li><li>R->P at 219: in dbSNP:rs34099346</li>									<li>rs1133893</li><li>rs34099346</li>	2
Q9P0N9	51256		<li>L->W at 67: in dbSNP:rs543580</li><li>A->T at 136: in dbSNP:rs9381921</li>									<li>rs9381921</li><li>rs543580</li>	2
Q9P0P0	51255		<li>Y->H at 118: in dbSNP:rs6643</li>									rs6643	2
Q9P0S9	51522		<li>S->R at 106: in dbSNP:rs1045961</li><li>F->L at 108: in dbSNP:rs1045964</li><li>N->I at 109: in dbSNP:rs1045967</li><li>H->D at 112: in dbSNP:rs1045986</li>									<li>rs1045964</li><li>rs1045961</li><li>rs1045967</li><li>rs1045986</li>	2
Q9P0V8	56833		<li>P->T at 5: in dbSNP:rs2494514</li><li>G->S at 99: in dbSNP:rs34687326</li><li>V->M at 129: in dbSNP:rs3795331</li>									<li>rs3795331</li><li>rs34687326</li><li>rs2494514</li>	2
Q9P0V9	151011		<li>L->P at 189: in dbSNP:rs3829701</li>									rs3829701	2
Q9P0W0	56832		<li>I->N at 97: in dbSNP:rs34933275</li><li>E->K at 133: in dbSNP:rs700785</li>									<li>rs700785</li><li>rs34933275</li>	2
Q9P0W5	29970		<li>E->K at 101: in dbSNP:rs3732851</li><li>A->V at 481: in dbSNP:rs17850021</li>									<li>rs17850021</li><li>rs3732851</li>	2
Q9P0W8	55812		<li>D->N at 2: in dbSNP:rs4904448</li><li>V->M at 74: in dbSNP:rs3179969</li><li>F->L at 119: in dbSNP:rs35137272</li><li>S->N at 165: in dbSNP:rs17124662</li><li>G->E at 324: in dbSNP:rs17124677</li><li>R->Q at 534: in dbSNP:rs10139784</li>									<li>rs10139784</li><li>rs4904448</li><li>rs17124662</li><li>rs17124677</li><li>rs3179969</li><li>rs35137272</li>	2
Q9P0X4	8911		<li>I->V at 1040: in dbSNP:rs136853</li><li>T->M at 1513: in dbSNP:rs8141262</li><li>G->A at 1782: in dbSNP:rs2294369</li><li>G->R at 1782: in dbSNP:rs2294369</li>									<li>rs8141262</li><li>rs136853</li><li>rs2294369</li>	2
Q9P107	51291		<li>D->N at 641: in dbSNP:rs12003</li>									rs12003	2
Q9P109	51301		<li>V->I at 321: in dbSNP:rs4704166</li><li>P->S at 439: in dbSNP:rs3811987</li>									<li>rs4704166</li><li>rs3811987</li>	2
Q9P127	51213		<li>P->S at 14: in dbSNP:rs10482480</li><li>T->A at 306: in dbSNP:rs35314601</li>									<li>rs10482480</li><li>rs35314601</li>	2
Q9P1A6	9228		<li>P->Q at 419: in dbSNP:rs2301963</li><li>T->M at 620: in dbSNP:rs7463888</li>									<li>rs7463888</li><li>rs2301963</li>	2
Q9P1Q0	51542		<li>S->C at 561: in dbSNP:rs34015596</li>									rs34015596	2
Q9P1Q5			<li>R->H at 128: in dbSNP:rs4375699</li><li>V->M at 233: in dbSNP:rs17762735</li><li>P->S at 285: in dbSNP:rs769427</li>									<li>rs4375699</li><li>rs769427</li><li>rs17762735</li>	2
Q9P1U0	30834		<li>Q->H at 14: in dbSNP:rs17187658</li>									rs17187658	2
Q9P1U1	57180		<li>R->Q at 250: in dbSNP:rs2260545</li>									rs2260545	2
Q9P1V8	161394		<li>L->P at 18: in dbSNP:rs11844594</li><li>K->E at 370: in dbSNP:rs4903576</li><li>K->E at 454: in dbSNP:rs2193595</li>									<li>rs2193595</li><li>rs11844594</li><li>rs4903576</li>	2
Q9P1W3	57156		<li>M->V at 654: in dbSNP:rs2287384</li>									rs2287384	2
Q9P1W8	55423		<li>V->A at 263: in dbSNP:rs6043409</li><li>S->L at 286: in dbSNP:rs6034239</li>									<li>rs6034239</li><li>rs6043409</li>	2
Q9P1W9	11040		<li>G->D at 138: in dbSNP rsrs35044770</li><li>I->V at 280: in dbSNP rsrs35208542</li>									<li>rs35208542</li><li>rs35044770</li>	2
Q9P1Y5	57662		<li>P->S at 335: in dbSNP:rs3745358</li>									rs3745358	2
Q9P1Y6	57661		<li>E->A at 1231: in dbSNP:rs7116027</li><li>A->V at 1374: in dbSNP:rs7123948</li><li>A->V at 1449: in dbSNP:rs11246212</li>									<li>rs11246212</li><li>rs7116027</li><li>rs7123948</li>	2
Q9P1Z0	57659		<li>A->V at 539: in dbSNP:rs35231078</li><li>M->I at 550: in dbSNP:rs871990</li><li>N->S at 561: in dbSNP:rs34914463</li>									<li>rs34914463</li><li>rs871990</li><li>rs35231078</li>	2
Q9P1Z2	57658		<li>R->K at 393: in dbSNP:rs3741659</li>									rs3741659	2
Q9P1Z3	57657		<li>P->L at 630: in dbSNP:rs35001694</li>									rs35001694	2
Q9P1Z9	57653		<li>P->H at 301: in dbSNP:rs7864805</li><li>S->R at 322: in dbSNP:rs17855671</li><li>L->H at 373: in dbSNP:rs10981558</li><li>E->K at 917: in dbSNP:rs12353306</li><li>S->C at 995: in dbSNP:rs2061634</li><li>F->L at 1146: in dbSNP:rs3747495</li><li>D->N at 1518: in dbSNP:rs2306093</li>									<li>rs3747495</li><li>rs2061634</li><li>rs12353306</li><li>rs17855671</li><li>rs10981558</li><li>rs2306093</li><li>rs7864805</li>	2
Q9P202	25861		<li>H->R at 364: in dbSNP:rs10817610</li><li>R->P at 423: in dbSNP:rs35003670</li><li>A->T at 440: in dbSNP:rs4978584</li><li>P->A at 562: in dbSNP:rs12339210</li><li>M->T at 613: in dbSNP:rs942519</li><li>Q->H at 752: in dbSNP:rs6478078</li><li>V->A at 783: in dbSNP:rs2274159</li><li>N->K at 796: in dbSNP:rs2274158</li><li>T->M at 813: in dbSNP:rs942519</li>									<li>rs942519</li><li>rs4978584</li><li>rs35003670</li><li>rs12339210</li><li>rs2274159</li><li>rs2274158</li><li>rs10817610</li><li>rs6478078</li>	2
Q9P206	57648		<li>P->S at 57: in dbSNP:rs11803515</li><li>S->P at 114: in dbSNP:rs3737994</li><li>M->V at 232: in dbSNP:rs12730560</li><li>L->I at 310: in dbSNP:rs11582639</li><li>P->L at 770: in dbSNP:rs581875</li><li>E->K at 1021: in dbSNP:rs675928</li>									<li>rs3737994</li><li>rs675928</li><li>rs11803515</li><li>rs12730560</li><li>rs581875</li><li>rs11582639</li>	2
Q9P209	55722		<li>P->L at 238: in dbSNP:rs869955</li><li>P->T at 412: in dbSNP:rs12522955</li><li>T->A at 509: in dbSNP:rs868649</li>									<li>rs12522955</li><li>rs869955</li><li>rs868649</li>	2
Q9P217	57643		<li>V->G at 368: in dbSNP:rs12733746</li>									rs12733746	2
Q9P219	440193		<li>A->E at 811: in dbSNP:rs17127223</li><li>A->V at 1028: in dbSNP:rs1970911</li><li>P->L at 1992: in dbSNP:rs941920</li>									<li>rs1970911</li><li>rs17127223</li><li>rs941920</li>	2
Q9P225	146754		<li>A->V at 100: in dbSNP:rs35664870</li><li>S->T at 312: in dbSNP:rs3744254</li><li>E->G at 1326: in dbSNP:rs11868946</li><li>R->H at 2548: in dbSNP:rs11656500</li><li>T->I at 3600: in dbSNP:rs7213894</li>									<li>rs7213894</li><li>rs11868946</li><li>rs35664870</li><li>rs3744254</li><li>rs11656500</li>	2
Q9P232	5067		<li>S->N at 630: in dbSNP:rs626578</li>									rs626578	2
Q9P241	57205		<li>T->I at 43: in dbSNP:rs33995001</li><li>C->R at 171: in dbSNP:rs7683838</li><li>T->I at 320: in dbSNP:rs35596623</li><li>A->T at 337: in dbSNP:rs35012290</li><li>N->S at 511: in dbSNP:rs10003238</li><li>F->L at 522: in dbSNP:rs6843325</li><li>P->T at 716: in dbSNP:rs34208443</li><li>N->S at 720: in dbSNP:rs34169638</li><li>S->N at 959: in dbSNP:rs17462252</li><li>R->K at 1183: in dbSNP:rs16851681</li><li>V->I at 1240: in dbSNP:rs1058793</li><li>S->T at 1389: in dbSNP:rs4145944</li><li>A->G at 1392: in dbSNP:rs35375547</li>									<li>rs7683838</li><li>rs4145944</li><li>rs35012290</li><li>rs34169638</li><li>rs34208443</li><li>rs10003238</li><li>rs1058793</li><li>rs33995001</li><li>rs6843325</li><li>rs17462252</li><li>rs16851681</li><li>rs35596623</li><li>rs35375547</li>	2
Q9P242	57624		<li>T->A at 205: in dbSNP:rs7422680</li><li>P->T at 586: in dbSNP:rs3748993</li>									<li>rs7422680</li><li>rs3748993</li>	2
Q9P243	57623		<li>G->R at 64: in dbSNP:rs17778003</li><li>P->S at 102: in dbSNP:rs12541381</li><li>R->K at 672: in dbSNP:rs35003767</li>									<li>rs35003767</li><li>rs12541381</li><li>rs17778003</li>	2
Q9P253	57617		<li>A->S at 913: in a colorectal cancer sample; somatic mutation</li>										2
Q9P255	57615		<li>T->K at 106: in dbSNP:rs11672238</li>									rs11672238	2
Q9P260	57614		<li>G->E at 929: in a colorectal cancer sample; somatic mutation</li>										2
Q9P265	57609		<li>I->V at 792: in dbSNP:rs11169525</li>									rs11169525	2
Q9P266	57608		<li>E->D at 487: in dbSNP:rs7917573</li><li>D->N at 494: in dbSNP:rs7917566</li><li>E->A at 729: in dbSNP:rs7901855</li><li>R->G at 957: in dbSNP:rs2185724</li><li>S->T at 1002: in dbSNP:rs3739998</li><li>A->G at 1095: in dbSNP:rs12240677</li>									<li>rs3739998</li><li>rs12240677</li><li>rs7917573</li><li>rs7917566</li><li>rs7901855</li><li>rs2185724</li>	2
Q9P267	55777		<li>T->I at 144: in a patient with mental retardation; unknown pathological significance</li><li>R->H at 461: in two patients with mental retardation; unknown pathological significance</li><li>D->E at 654: in a patient with mental retardation; unknown pathological significance</li><li>A->T at 655: in a patient with mental retardation; unknown pathological significance</li><li>S->N at 677</li><li>A->T at 857: in a patient with mental retardation; unknown pathological significance</li><li>T->I at 1048: in a patient with mental retardation; unknown pathological significance</li>										2
Q9P273	55714		<li>S->C at 385: in dbSNP:rs3749509</li>									rs3749509	2
Q9P275	57602		<li>V->I at 271: in dbSNP:rs3744793</li><li>I->M at 489: in dbSNP:rs3744795</li><li>R->Q at 775: in dbSNP:rs9889908</li><li>Q->R at 806: in dbSNP:rs3088040</li><li>K->N at 814: in dbSNP:rs3744797</li><li>R->C at 828: in dbSNP:rs1057040</li>									<li>rs3744795</li><li>rs9889908</li><li>rs3744793</li><li>rs3088040</li><li>rs1057040</li><li>rs3744797</li>	2
Q9P278	57600		<li>T->S at 298: in dbSNP:rs2276938</li>									rs2276938	2
Q9P281	57597		<li>T->A at 1267: in dbSNP:rs7213444</li><li>R->C at 2479: in dbSNP:rs8746</li>									<li>rs7213444</li><li>rs8746</li>	2
Q9P283	54437		<li>G->S at 42: in a breast cancer sample; somatic mutation</li><li>I->T at 220: in dbSNP:rs2276774</li><li>I->M at 223: in a breast cancer sample; somatic mutation</li><li>M->T at 742: in dbSNP:rs2276781</li><li>V->D at 840: in dbSNP:rs2276782</li><li>S->P at 996: in dbSNP:rs35306342</li><li>D->G at 1028: in dbSNP:rs2303983</li>									<li>rs2276781</li><li>rs2276782</li><li>rs2303983</li><li>rs35306342</li><li>rs2276774</li>	2
Q9P286	57144		<li>G->D at 118: in dbSNP rsrs55923311</li><li>P->A at 187: in dbSNP:rs34280805</li><li>S->P at 312: in a colorectal adenocarcinoma sample; somatic mutation</li><li>R->P at 335: in dbSNP:rs11700112</li><li>S->N at 511: in dbSNP:rs2297345</li><li>T->N at 538: in a lung adenocarcinoma sample; somatic mutation</li><li>A->S at 555: in dbSNP rsrs34102290</li><li>V->I at 604: in a metastatic melanoma sample; somatic mutation</li><li>G->S at 704: in a metastatic melanoma sample; somatic mutation</li>									<li>rs55923311</li><li>rs2297345</li><li>rs34102290</li><li>rs34280805</li><li>rs11700112</li>	2
Q9P287	56647		<li>E->Q at 254: in dbSNP:rs17153610</li>									rs17153610	2
Q9P289	51765		<li>Q->R at 9: in dbSNP rsrs56035648</li><li>G->W at 36: in a gastric adenocarcinoma sample; somatic mutation</li><li>R->C at 45: in dbSNP rsrs56044451</li>									<li>rs56044451</li><li>rs56035648</li>	2
Q9P298	51751		<li>S->N at 86: in dbSNP:rs1071682</li><li>D->N at 87: in dbSNP:rs2231650</li>									<li>rs2231650</li><li>rs1071682</li>	2
Q9P2A4	51225		<li>R->Q at 44: in dbSNP:rs2233369</li>									rs2233369	2
Q9P2B2	5738		<li>V->I at 837: in dbSNP:rs10801922</li>									rs10801922	2
Q9P2B4	55917		<li>V->M at 296: in dbSNP:rs1175640</li><li>S->G at 409: in dbSNP:rs12137578</li>									<li>rs1175640</li><li>rs12137578</li>	2
Q9P2B7	57587		<li>T->A at 238: in dbSNP:rs1133657</li><li>L->S at 443: in dbSNP:rs6820332</li>									<li>rs1133657</li><li>rs6820332</li>	2
Q9P2D0	25998		<li>V->I at 1065: in dbSNP:rs12662902</li><li>A->V at 1185: in dbSNP:rs9449444</li>									<li>rs9449444</li><li>rs12662902</li>	2
Q9P2D1	55636		<li>H->R at 55: in KAL5, MIM: 612370</li><li>M->V at 340: in dbSNP:rs41305525, MIM: 612370</li><li>S->F at 834: in IHH, MIM: 146110</li><li>I->V at 1028: in CHARGE syndrome, MIM: 214800</li><li>W->G at 1031: in CHARGE syndrome, MIM: 214800</li><li>Q->R at 1214: in CHARGE syndrome, MIM: 214800</li><li>L->R at 1257: in CHARGE syndrome, MIM: 214800</li><li>L->P at 1294: in CHARGE syndrome, MIM: 214800</li><li>L->P at 1815: in CHARGE syndrome, MIM: 214800</li><li>H->R at 2096: in CHARGE syndrome, MIM: 214800</li><li>R->S at 2319: in CHARGE syndrome, MIM: 214800</li><li>F->L at 2750: in dbSNP:rs3750308, MIM: 214800</li><li>A->T at 2789: in IHH, MIM: 146110</li><li>P->L at 2880: in IHH, MIM: 146110</li><li>K->E at 2948: in KAL5, MIM: 612370</li>							<li>Q98938</li><li>P79860</li><li>P79871</li><li>Q14623</li><li>P79866</li><li>O13220</li><li>O13240</li><li>P79852</li><li>O13215</li><li>P79719</li><li>O13243</li><li>P97812</li><li>P79711</li><li>Q91612</li><li>P79693</li>	<li>Kallmann syndrome type 5 (KAL5) [MIM:612370]</li><li>CHARGE syndrome [MIM:214800]</li><li>Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]</li>	<li>rs41305525</li><li>rs3750308</li>	2
Q9P2D3	54497		<li>S->P at 1601: in dbSNP:rs2302657</li>									rs2302657	2
Q9P2D6	57579		<li>I->V at 725: in dbSNP:rs9455142</li><li>P->S at 954: in dbSNP:rs16869301</li><li>D->G at 1242: in dbSNP:rs2747701</li>									<li>rs16869301</li><li>rs2747701</li><li>rs9455142</li>	2
Q9P2D7	25981		<li>E->D at 205: in dbSNP:rs10460963</li><li>V->L at 441: in dbSNP:rs13060192</li><li>V->M at 1502: in dbSNP:rs17052095</li><li>R->C at 1663: in dbSNP:rs17052097</li>									<li>rs17052097</li><li>rs13060192</li><li>rs10460963</li><li>rs17052095</li>	2
Q9P2D8	57578		<li>V->A at 1597: in dbSNP:rs28670114</li><li>V->I at 1670: in dbSNP:rs4905081</li><li>K->R at 2183: in dbSNP:rs2296687</li><li>G->S at 2444: in dbSNP:rs7359096</li>									<li>rs28670114</li><li>rs7359096</li><li>rs4905081</li><li>rs2296687</li>	2
Q9P2E2	57576		<li>M->V at 402: in dbSNP:rs522496</li><li>E->D at 933: in dbSNP:rs631357</li>									<li>rs631357</li><li>rs522496</li>	2
Q9P2E3	57169		<li>L->V at 864: in dbSNP:rs2664578</li><li>T->A at 910: in dbSNP:rs2273148</li><li>Q->H at 924: in dbSNP:rs238221</li><li>M->I at 1259: in dbSNP:rs6512577</li><li>G->S at 1297: in dbSNP:rs36068952</li><li>T->I at 1351: in dbSNP:rs238209</li>									<li>rs6512577</li><li>rs2273148</li><li>rs36068952</li><li>rs2664578</li><li>rs238209</li><li>rs238221</li>	2
Q9P2F6	57569		<li>A->T at 522: in dbSNP:rs7936020</li><li>G->D at 632: in dbSNP:rs17853925</li>									<li>rs7936020</li><li>rs17853925</li>	2
Q9P2F8	57568		<li>T->A at 49: in dbSNP:rs16857502</li><li>T->A at 1322: in dbSNP:rs2275307</li><li>S->L at 1403: in dbSNP:rs1547742</li><li>G->S at 1639: in dbSNP:rs2275303</li>									<li>rs2275307</li><li>rs1547742</li><li>rs2275303</li><li>rs16857502</li>	2
Q9P2G1	54467		<li>L->M at 1016: in dbSNP:rs38794</li>									rs38794	2
Q9P2G9	57563		<li>P->R at 520: in dbSNP:rs17854114</li>									rs17854114	2
Q9P2H0	57562		<li>A->T at 178: in dbSNP:rs11225086</li><li>C->G at 238: in dbSNP:rs7926728</li><li>S->Y at 275: in dbSNP:rs11225089</li><li>I->T at 281: in dbSNP:rs11225090</li><li>A->T at 302: in dbSNP:rs11225091</li><li>P->S at 710: in dbSNP:rs7109614</li><li>M->T at 1021: in dbSNP:rs7111429</li><li>N->S at 1077: in dbSNP:rs6590942</li>									<li>rs7111429</li><li>rs7926728</li><li>rs6590942</li><li>rs11225090</li><li>rs11225089</li><li>rs11225086</li><li>rs11225091</li><li>rs7109614</li>	2
Q9P2H3	57560		<li>H->Q at 105: in ATD2, MIM: 611263</li><li>Missing  at 549: in ATD2, MIM: 611263</li><li>T->S at 586: in dbSNP:rs6778728, MIM: 611263</li><li>A->P at 701: in ATD2, MIM: 611263</li>								Asphyxiating thoracic dystrophy 2 (ATD2) [MIM:611263]	rs6778728	2
Q9P2J2	57549		<li>G->E at 34: in dbSNP:rs3747617</li><li>R->P at 474: in dbSNP:rs16842846</li><li>P->L at 914: in dbSNP:rs35574000</li><li>S->T at 1026: in dbSNP:rs34749866</li><li>P->T at 1117: in dbSNP:rs1319080</li>									<li>rs1319080</li><li>rs34749866</li><li>rs3747617</li><li>rs35574000</li><li>rs16842846</li>	2
Q9P2J5	51520		<li>R->K at 1088: in dbSNP:rs10988</li>									rs10988	2
Q9P2J8			<li>C->S at 432: in a colorectal cancer sample; somatic mutation</li>										2
Q9P2K1	57545		<li>E->A at 376: in dbSNP:rs16892095</li><li>V->I at 660: in dbSNP:rs16892134</li><li>Q->H at 1096: in JBTS9</li><li>P->S at 1122: in JBTS9</li><li>R->C at 1528: in JBTS9</li><li>L->P at 1551: in JBTS9</li>									<li>rs16892134</li><li>rs16892095</li>	2
Q9P2K2	57544		<li>E->K at 486: in dbSNP:rs7155490</li>									rs7155490	2
Q9P2K3	55758		<li>K->R at 42: in dbSNP:rs17856928</li>									rs17856928	2
Q9P2K5	50804		<li>T->A at 91: in dbSNP:rs8023906</li><li>S->G at 465: in dbSNP:rs36075490</li>									<li>rs36075490</li><li>rs8023906</li>	2
Q9P2K8	440275		<li>H->R at 137: in dbSNP rsrs35509999</li><li>R->W at 166: in dbSNP rsrs34439704</li><li>I->L at 441: in dbSNP rsrs2291627</li><li>D->V at 872: in dbSNP rsrs34665481</li><li>H->Y at 939: in a lung neuroendocrine carcinoma sample; somatic mutation</li><li>T->R at 1060: in dbSNP rsrs55781333</li><li>G->C at 1306: in dbSNP rsrs35602605</li><li>K->R at 1336: in dbSNP rsrs35480871</li><li>Q->H at 1406: in dbSNP rsrs55721315</li>									<li>rs55721315</li><li>rs34439704</li><li>rs34665481</li><li>rs35509999</li><li>rs2291627</li><li>rs35480871</li><li>rs35602605</li><li>rs55781333</li>	2
Q9P2K9	57540		<li>L->V at 51: in dbSNP:rs3738159</li><li>G->S at 182: in dbSNP:rs2817580</li><li>A->T at 650: in dbSNP:rs2072994</li><li>G->A at 661: in dbSNP:rs2072993</li><li>R->H at 948: in dbSNP:rs12096312</li>									<li>rs2817580</li><li>rs2072994</li><li>rs12096312</li><li>rs2072993</li><li>rs3738159</li>	2
Q9P2L0	57539		<li>Q->R at 18: in dbSNP:rs1060742</li><li>E->G at 983: in dbSNP:rs1191778</li>									<li>rs1191778</li><li>rs1060742</li>	2
Q9P2N2	79822		<li>T->S at 190: in dbSNP:rs6506448</li><li>P->Q at 727: in dbSNP:rs1056408</li>									<li>rs6506448</li><li>rs1056408</li>	2
Q9P2N4	56999		<li>S->P at 96: in dbSNP:rs36115950</li><li>S->T at 96: in dbSNP:rs36115950</li><li>K->E at 1579: in dbSNP:rs17071010</li><li>D->E at 1674: in dbSNP:rs6787633</li><li>K->R at 1740: in dbSNP:rs17070967</li><li>E->Q at 1791: in dbSNP:rs3796381</li><li>K->E at 1921: in dbSNP:rs17070909</li><li>R->Q at 1933: in dbSNP:rs17070905</li>									<li>rs6787633</li><li>rs17070905</li><li>rs36115950</li><li>rs17070967</li><li>rs17070909</li><li>rs3796381</li><li>rs17071010</li>	2
Q9P2N6	55683		<li>V->I at 707: in dbSNP:rs34406082</li>									rs34406082	2
Q9P2P1	57523		<li>T->M at 457: in dbSNP:rs12437434</li><li>A->V at 659: in dbSNP:rs8008203</li><li>A->T at 978: in dbSNP:rs8017377</li><li>E->K at 997: in dbSNP:rs3742518</li><li>I->V at 1551: in dbSNP:rs17103672</li>									<li>rs8008203</li><li>rs3742518</li><li>rs17103672</li><li>rs8017377</li><li>rs12437434</li>	2
Q9P2P6			<li>D->N at 70: in dbSNP:rs3742993</li><li>R->C at 1124: in dbSNP:rs12594837</li><li>P->L at 1634: in dbSNP:rs7161810</li><li>A->V at 2119: in dbSNP:rs16957055</li><li>R->H at 2591: in dbSNP:rs8030587</li><li>T->I at 2769: in dbSNP:rs8031218</li><li>P->S at 2783: in dbSNP:rs11857283</li><li>R->G at 2929: in dbSNP:rs3742995</li><li>N->D at 3297: in dbSNP:rs3742993</li><li>Y->C at 3321: in dbSNP:rs16957061</li><li>Y->C at 3383: in dbSNP:rs16957061</li>									<li>rs11857283</li><li>rs8030587</li><li>rs16957061</li><li>rs12594837</li><li>rs8031218</li><li>rs3742993</li><li>rs3742995</li><li>rs16957055</li><li>rs7161810</li>	2
Q9P2Q2	55691		<li>Q->H at 242: in dbSNP:rs11258565</li>									rs11258565	2
Q9P2R7	8803		<li>V->M at 13: in dbSNP:rs35201084</li><li>G->R at 118: in EMDSMA, MIM: 612073</li><li>S->T at 199: in dbSNP:rs7320366, MIM: 612073</li><li>R->C at 284: in EMDSMA, MIM: 612073</li>								Encephalomyopathic mitochondrial DNA depletion syndrome with methylmalonic aciduria (EMDSMA) [MIM:612073]	<li>rs7320366</li><li>rs35201084</li>	2
Q9P2S2	9379		<li>L->Q at 81: in dbSNP:rs12273892</li>									rs12273892	2
Q9P2S6	51281		<li>D->N at 89: in dbSNP:rs35278753</li><li>I->M at 424: in dbSNP:rs35996697</li><li>D->V at 451: in dbSNP:rs3796118</li><li>V->L at 472: in dbSNP:rs3821348</li><li>T->M at 649: in dbSNP:rs35044862</li>									<li>rs3821348</li><li>rs35044862</li><li>rs3796118</li><li>rs35996697</li><li>rs35278753</li>	2
Q9P2T0	51298		<li>R->I at 202: in dbSNP:rs2303810</li><li>R->Q at 267: in dbSNP:rs2278287</li><li>H->Y at 297: in dbSNP:rs10422863</li><li>D->N at 353: in dbSNP:rs3764656</li>									<li>rs3764656</li><li>rs2303810</li><li>rs2278287</li><li>rs10422863</li>	2
Q9P2T1	51292		<li>G->D at 242: in dbSNP:rs34354104</li>									rs34354104	2
Q9P2U7	57030		<li>P->R at 431: in dbSNP:rs17855709</li>									rs17855709	2
Q9P2U8	57084		<li>T->S at 40: in a breast cancer sample; somatic mutation</li><li>N->S at 551: in dbSNP:rs7117340</li>									rs7117340	2
Q9P2V4	26103		<li>L->M at 154: in dbSNP:rs11200933</li><li>P->Q at 258: in dbSNP:rs7090059</li><li>P->T at 389: in dbSNP:rs12262099</li><li>S->G at 591: in dbSNP:rs3814211</li>									<li>rs12262099</li><li>rs11200933</li><li>rs3814211</li><li>rs7090059</li>	2
Q9P2W1	29893		<li>Y->N at 163: in dbSNP:rs2292754</li>									rs2292754	2
Q9P2W7	27087		<li>A->T at 131: in dbSNP:rs35434644</li>									rs35434644	2
Q9P2W9	53407		<li>D->Y at 32: in dbSNP:rs13134070</li><li>S->G at 51: in dbSNP:rs36109375</li><li>S->T at 228: in dbSNP:rs33952588</li>									<li>rs36109375</li><li>rs13134070</li><li>rs33952588</li>	2
Q9P2X3	55364		<li>D->E at 125: in dbSNP:rs582234</li><li>V->L at 151: in dbSNP:rs677688</li>									<li>rs582234</li><li>rs677688</li>	2
Q9P2X7	50514		<li>A->V at 60: in dbSNP:rs2269700</li>									rs2269700	2
Q9TNN7			<li>N->D at 138: in allele Cw*0504</li><li>F->S at 140: in allele Cw*0504</li><li>K->E at 201: in allele Cw*0502</li><li>EH->DP at 207-208: in allele Cw*0503</li><li>V->I at 218: in allele Cw*0503</li><li>A->V at 223: in allele Cw*0503</li>										2
Q9UBB6	23154		<li>V->E at 392: in a colorectal cancer sample; somatic mutation</li><li>V->L at 392: in a colorectal cancer sample; somatic mutation</li>										2
Q9UBB9	24144		<li>N->S at 177: in dbSNP:rs6005062</li>									rs6005062	2
Q9UBC0	3175		<li>P->A at 75</li>										2
Q9UBC1	4795		<li>C->R at 224: polymorphism found in the MHC 7.1 haplotype : in dbSNP rsrs3130062</li>									rs3130062	2
Q9UBC3	1789		<li>R->P at 54: in dbSNP:rs17123590</li><li>S->P at 270: in ICF, MIM: 242860</li><li>A->V at 585: in ICF, MIM: 242860</li><li>A->T at 603: in ICF, MIM: 242860</li><li>V->A at 606: in ICF, MIM: 242860</li><li>G->S at 663: in ICF, MIM: 242860</li><li>L->P at 664: in ICF, MIM: 242860</li><li>V->G at 699: in ICF, MIM: 242860</li><li>V->G at 726: in ICF, MIM: 242860</li><li>A->P at 766: in ICF, MIM: 242860</li><li>E->ESTP at 806: in ICF, MIM: 242860</li><li>H->R at 814: in ICF, MIM: 242860</li><li>D->G at 817: in ICF, MIM: 242860</li><li>V->M at 818: in ICF, MIM: 242860</li><li>R->Q at 840: in ICF, MIM: 242860</li>								Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	rs17123590	2
Q9UBC5	4640		<li>S->SS at 116: in DFNA48</li><li>V->M at 306: in DFNA48; could be a polymorphism: in dbSNP rsrs55679042, MIM: 607841</li><li>E->D at 385: in DFNA48, MIM: 607841</li><li>P->L at 426: in dbSNP:rs4759043, MIM: 607841</li><li>C->S at 506: in dbSNP:rs12297756, MIM: 607841</li><li>F->L at 600: in dbSNP:rs2270738, MIM: 607841</li><li>G->E at 662: in DFNA48; could be a polymorphism: in dbSNP rsrs33962952, MIM: 607841</li><li>G->D at 674: in DFNA48, MIM: 607841</li><li>S->F at 797: in DFNA48, MIM: 607841</li><li>S->P at 910: in DFNA48, MIM: 607841</li><li>T->I at 996: in dbSNP:rs17119344, MIM: 607841</li>								Non-syndromic sensorineural deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	<li>rs4759043</li><li>rs33962952</li><li>rs2270738</li><li>rs17119344</li><li>rs12297756</li><li>rs55679042</li>	2
Q9UBC7	85569		<li>I->M at 72: in dbSNP:rs3745833</li>									rs3745833	2
Q9UBC9	6707		<li>L->V at 149: in dbSNP:rs1055935</li><li>T->M at 156: in dbSNP:rs2075740</li>									<li>rs2075740</li><li>rs1055935</li>	2
Q9UBD3	6846		<li>H->D at 28: in dbSNP:rs4301615</li>									rs4301615	2
Q9UBD5	23595		<li>Q->K at 94: in dbSNP:rs2307365</li><li>Q->R at 126: in dbSNP:rs2307371</li><li>V->I at 217: in dbSNP:rs2307389</li><li>I->V at 247: in dbSNP:rs2307374</li><li>T->M at 287: in dbSNP:rs2307381</li><li>T->P at 389: in dbSNP:rs2307372</li><li>R->C at 588: in dbSNP:rs2307370</li><li>A->T at 626: in dbSNP:rs28381545</li>									<li>rs2307370</li><li>rs2307372</li><li>rs2307389</li><li>rs2307371</li><li>rs2307374</li><li>rs28381545</li><li>rs2307365</li><li>rs2307381</li>	2
Q9UBD9	23529		<li>R->L at 197: in CISS2; incapacity to bind CNTFR alpha; heterozygous compound with a nonsense mutation, MIM: 610313</li>							<li>Q08406</li><li>P26992</li><li>Q71DR4</li><li>O88507</li><li>P51641</li>	Cold-induced sweating syndrome 2 (CISS2) [MIM:610313]		2
Q9UBE8			<li>V->A at 165: in dbSNP:rs11871287</li><li>A->T at 331: in a glioblastoma multiforme sample; somatic mutation</li>									rs11871287	2
Q9UBF1	51438		<li>G->C at 6: in a breast cancer sample; somatic mutation</li>										2
Q9UBF9	9499		<li>S->I at 33: in a colorectal cancer sample; somatic mutation</li><li>S->F at 39: in SBM, MIM: 182920</li><li>Q->R at 50: in dbSNP:rs34717730, MIM: 182920</li><li>S->F at 55: in LGMD1A and myotilinopathy, MIM: 609200</li><li>T->I at 57: in LGMD1A; does not abolish interaction with ACTN1; dbSNP:rs28937597, MIM: 159000</li><li>S->C at 60: in myotilinopathy, MIM: 609200</li><li>S->F at 60: in myotilinopathy, MIM: 609200</li><li>Q->K at 74: in dbSNP:rs41431944, MIM: 609200</li><li>S->I at 95: in myotilinopathy, MIM: 609200</li>							<li>P12814</li><li>P05094</li><li>Q3B7N2</li>	<li>Spheroid body myopathy (SBM) [MIM:182920]</li><li>Myotilinopathy [MIM:609200]</li><li>Limb-girdle muscular dystrophy type 1A (LGMD1A) [MIM:159000]</li>	<li>rs28937597</li><li>rs41431944</li><li>rs34717730</li>	2
Q9UBG3	49860		<li>A->V at 27: in dbSNP:rs35639220</li><li>Q->H at 374: in dbSNP:rs6695830</li><li>G->S at 480: in dbSNP:rs3829868</li>									<li>rs3829868</li><li>rs6695830</li><li>rs35639220</li>	2
Q9UBH0	26525		<li>N->S at 47: in dbSNP rsrs28938777</li>									rs28938777	2
Q9UBH6	9213		<li>T->A at 491: in dbSNP:rs1061012</li>									rs1061012	2
Q9UBK2	10891		<li>G->S at 482: in dbSNP:rs8192678</li><li>T->M at 612: in dbSNP:rs3736265</li>									<li>rs8192678</li><li>rs3736265</li>	2
Q9UBK8	4552		<li>I->M at 49: may be associated with susceptibility to folate-sensitive NTD; dbSNP:rs1801394</li><li>Missing  at 81: in cblE</li><li>V->M at 83: in cblE, MIM: 236270</li><li>A->T at 156: in cblE, MIM: 236270</li><li>L->S at 202: in dbSNP:rs1532268, MIM: 236270</li><li>S->T at 284: in dbSNP:rs2303080, MIM: 236270</li><li>L->V at 360: in dbSNP:rs10064631, MIM: 236270</li><li>K->R at 377: in dbSNP:rs162036, MIM: 236270</li><li>C->R at 432: in cblE, MIM: 236270</li><li>R->C at 442: in dbSNP:rs2287780, MIM: 236270</li><li>P->R at 477: in dbSNP:rs16879334, MIM: 236270</li><li>G->R at 514: in cblE, MIM: 236270</li><li>G->R at 581: in cblE, MIM: 236270</li><li>Missing  at 603: in cblE, MIM: 236270</li><li>H->Y at 622: in dbSNP:rs10380, MIM: 236270</li>								Methylcobalamin deficiency type E (cblE) [MIM:236270]	<li>rs16879334</li><li>rs1532268</li><li>rs2287780</li><li>rs10064631</li><li>rs1801394</li><li>rs2303080</li><li>rs10380</li><li>rs162036</li>	2
Q9UBL3	9070		<li>S->F at 478: in dbSNP:rs34167006</li>									rs34167006	2
Q9UBL6	27132		<li>F->L at 77: in dbSNP:rs455527</li><li>R->Q at 397: in dbSNP:rs28568523</li><li>K->E at 507: in dbSNP:rs35731090</li><li>P->L at 633: in dbSNP:rs3751682</li>									<li>rs35731090</li><li>rs3751682</li><li>rs28568523</li><li>rs455527</li>	2
Q9UBM1	10400		<li>R->W at 3</li><li>V->I at 58: in dbSNP:rs897453</li><li>V->M at 175: in dbSNP:rs7946</li><li>G->R at 194</li>									<li>rs7946</li><li>rs897453</li>	2
Q9UBM7	1717		<li>P->S at 51: in SLOS, MIM: 270400</li><li>L->P at 68: in SLOS, MIM: 270400</li><li>T->M at 93: in SLOS, MIM: 270400</li><li>L->P at 99: in SLOS, MIM: 270400</li><li>Q->H at 107: in SLOS, MIM: 270400</li><li>L->P at 109: in SLOS, MIM: 270400</li><li>S->C at 113: in SLOS, MIM: 270400</li><li>H->L at 119: in SLOS: in dbSNP rsrs28938174, MIM: 270400</li><li>G->V at 138: in SLOS, MIM: 270400</li><li>I->L at 145: in SLOS, MIM: 270400</li><li>G->D at 147: in SLOS, MIM: 270400</li><li>T->M at 154: in SLOS, MIM: 270400</li><li>L->P at 157: in SLOS, MIM: 270400</li><li>S->L at 169: in SLOS, MIM: 270400</li><li>W->C at 182: in SLOS, MIM: 270400</li><li>W->L at 182: in SLOS, MIM: 270400</li><li>C->Y at 183: in SLOS, MIM: 270400</li><li>K->E at 198: in SLOS, MIM: 270400</li><li>F->S at 235: in SLOS, MIM: 270400</li><li>R->C at 242: in SLOS, MIM: 270400</li><li>R->H at 242: in SLOS, MIM: 270400</li><li>G->R at 244: in SLOS, MIM: 270400</li><li>A->V at 247: in SLOS, MIM: 270400</li><li>W->C at 248: in SLOS: in dbSNP rsrs28939698, MIM: 270400</li><li>F->L at 255: in SLOS, MIM: 270400</li><li>V->M at 281: in SLOS, MIM: 270400</li><li>T->I at 289: in SLOS, MIM: 270400</li><li>I->T at 297: in SLOS, MIM: 270400</li><li>C->G at 311: in SLOS, MIM: 270400</li><li>C->Y at 311: in SLOS, MIM: 270400</li><li>Y->H at 324: in SLOS, MIM: 270400</li><li>V->L at 326: in SLOS, MIM: 270400</li><li>G->R at 344: in SLOS, MIM: 270400</li><li>R->Q at 352: in SLOS, MIM: 270400</li><li>R->W at 352: in SLOS, MIM: 270400</li><li>V->A at 353: in SLOS, MIM: 270400</li><li>R->C at 362: in SLOS, MIM: 270400</li><li>C->R at 380: in SLOS, MIM: 270400</li><li>C->S at 380: in SLOS, MIM: 270400</li><li>C->Y at 380: in SLOS, MIM: 270400</li><li>S->L at 397: in SLOS, MIM: 270400</li><li>R->C at 404: in SLOS, MIM: 270400</li><li>R->S at 404: in SLOS, MIM: 270400</li><li>H->Y at 405: in SLOS, MIM: 270400</li><li>Y->H at 408: in SLOS, MIM: 270400</li><li>G->R at 410: in SLOS, MIM: 270400</li><li>G->S at 410: in SLOS, MIM: 270400</li><li>G->S at 425: in dbSNP:rs760242, MIM: 270400</li><li>H->P at 426: in SLOS, MIM: 270400</li><li>R->C at 443: in SLOS, MIM: 270400</li><li>R->Q at 446: in SLOS, MIM: 270400</li><li>E->K at 448: in SLOS; mild, MIM: 270400</li><li>E->Q at 448: in SLOS, MIM: 270400</li><li>R->L at 450: in SLOS, MIM: 270400</li>								Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	<li>rs760242</li><li>rs28938174</li><li>rs28939698</li>	2
Q9UBM8	25834		<li>S->T at 428: in dbSNP:rs17855890</li>									rs17855890	2
Q9UBN4	7223		<li>E->K at 138: in a breast cancer sample; somatic mutation</li>										2
Q9UBN6	8793		<li>P->S at 35: in TRAIL-R4-B: in dbSNP rsrs11135703</li><li>S->L at 310: in TRAIL-R4-B: in dbSNP rsrs1133782</li>							Q9UBN6		<li>rs1133782</li><li>rs11135703</li>	2
Q9UBP0	6683	<ul><li>M->V at 1: Cytoplasmic and nuclear</li><li>M->V at 87: Exclusively cytoplasmic</li><li>H->D at 120: Impairs binding to CHMP1B. Impairs midbody localization; when associated with D-124</li><li>F->A at 124: Impairs binding to CHMP1B</li><li>F->D at 124: Impairs binding to CHMP1B. Impairs midbody localization; when associated with D-120</li><li>K->A at 388: Abrogates ATPase activity and abolishes microtubule severing</li><li>Y->A at 415: Abrogates binding to the tail of alpha-tubulin and beta-3-tubulin, impairs ATPase activity and abolishes microtubule severing</li><li>E->Q at 442: Abrogates ATP hydrolysis, abolishes microtubule severing, stabilizes the homohexameric form, and promotes microtubule binding and redistribution from the endosome to microtubules</li><li>R->G at 451: Abrogates binding to the tail of alpha-tubulin and beta-3-tubulin, impairs ATPase activity and abolishes microtubule severing</li><li>A->E at 457: Abrogates binding to the tail of alpha-tubulin and beta-3-tubulin and abolishes microtubule severing</li></ul>	<li>S->L at 44: rare polymorphism which modifies the phenotype of SPG4 disease; may decrease the activity of the alternative promoter which directs the synthesis of isoform 3 and isoform 4</li><li>P->Q at 45: rare polymorphism which modifies the phenotype of SPG4 disease</li><li>L->V at 195: in SPG4, MIM: 182601</li><li>I->K at 344: in SPG4; abrogates ATPase activity and promotes microtubule binding, MIM: 182601</li><li>Q->K at 347: in SPG4; promotes microtubule binding, MIM: 182601</li><li>P->L at 361: in SPG4, MIM: 182601</li><li>S->C at 362: in SPG4, MIM: 182601</li><li>G->R at 370: in SPG4; promotes microtubule binding and the formation of thick microtubule bundles, MIM: 182601</li><li>L->Q at 378: in SPG4, MIM: 182601</li><li>F->C at 381: in SPG4; promotes microtubule binding and the formation of thick microtubule bundles, MIM: 182601</li><li>N->K at 386: in SPG4; abrogates ATPase activity, promotes microtubule binding and the formation of thick microtubule bundles, MIM: 182601</li><li>N->S at 386: in SPG4, MIM: 182601</li><li>K->R at 388: in SPG4; abrogates ATPase activity, promotes microtubule binding and the formation of thick microtubule bundles and impairs traffic from the ER to Golgi, MIM: 182601</li><ul><li>K->A at 388: Abrogates ATPase activity and abolishes microtubule severing</li></ul><li>M->V at 390: in SPG4, MIM: 182601</li></ul><li>S->L at 399: in SPG4, MIM: 182601</li></ul><li>Missing  at 404: in SPG4, MIM: 182601</li></ul><li>I->V at 406: in SPG4, MIM: 182601</li></ul><li>S->R at 407: in SPG4, MIM: 182601</li></ul><li>V->L at 423: in a breast cancer sample; somatic mutation, MIM: 182601</li></ul><li>R->G at 424: in SPG4, MIM: 182601</li></ul><li>L->V at 426: in SPG4; promotes microtubule binding and the formation of thick microtubule bundles, MIM: 182601</li></ul><li>P->L at 435: in SPG4, MIM: 182601</li></ul><li>S->F at 436: in SPG4, MIM: 182601</li></ul><li>D->G at 441: in SPG4, MIM: 182601</li></ul><li>C->Y at 448: in SPG4; abrogates binding to the tail of beta-3-tubulin, abolishes microtubule severing and promotes the formation of thick microtubule bundles, MIM: 182601</li></ul><li>R->G at 459: in SPG4, MIM: 182601</li></ul><li>R->C at 460: in SPG4; promotes microtubule binding and the formation of thick microtubule bundles, MIM: 182601</li></ul><li>R->L at 460: in SPG4, MIM: 182601</li></ul><li>D->V at 470: in SPG4: in dbSNP rsrs28939368, MIM: 182601</li></ul><li>A->V at 485: in SPG4, MIM: 182601</li></ul><li>P->L at 489: in SPG4, MIM: 182601</li></ul><li>D->G at 493: in SPG4, MIM: 182601</li></ul><li>R->C at 499: in SPG4; abrogates ATPase activity, promotes microtubule binding and the formation of thick microtubule bundles, MIM: 182601</li></ul><li>R->H at 499: in SPG4, MIM: 182601</li></ul><li>R->L at 503: in SPG4, MIM: 182601</li></ul><li>R->W at 503: in SPG4, MIM: 182601</li></ul><li>E->D at 512: in SPG4, MIM: 182601</li></ul><li>Missing  at 515: in SPG4, MIM: 182601</li></ul><li>L->P at 534: in SPG4, MIM: 182601</li></ul><li>A->Y at 551: in SPG4; requires 2 nucleotide substitutions, MIM: 182601</li></ul><li>D->N at 555: in SPG4, MIM: 182601</li></ul><li>A->V at 556: in SPG4; promotes microtubule binding and the formation of thick microtubule bundles, MIM: 182601</li></ul><li>G->D at 559: in SPG4, MIM: 182601</li></ul><li>R->G at 562: in SPG4, MIM: 182601</li></ul><li>R->Q at 562: in SPG4, MIM: 182601</li></ul><li>D->H at 584: in SPG4, MIM: 182601</li></ul><li>W->C at 607: in SPG4, MIM: 182601</li></ul><li>T->I at 614: in SPG4; variant form with congenital arachnoid cysts, MIM: 182601</li></ul><li>T->I at 615: in SPG4, MIM: 182601</li></ul>	<li>ATP hydrolysis</li><li>localization</li>	<li>GO:0006200</li><li>GO:0051179</li>	<li>microtubule binding</li><li>binding</li><li>ATPase activity</li>	<li>GO:0008017</li><li>GO:0005488</li><li>GO:0016887</li>	<li>ER</li><li>microtubule</li><li>midbody</li>	<li>GO:0005783</li><li>GO:0005874</li><li>GO:0030496</li>	<li>Q9ZRB0</li><li>Q5ZKX1</li><li>P08841</li><li>Q5E994</li><li>Q43695</li><li>Q6VAF8</li><li>Q40665</li><li>P33632</li><li>Q5I2J3</li><li>Q9UBP0</li><li>Q7LBR1</li><li>Q71G51</li><li>P50261</li><li>P29502</li><li>Q9ZPN8</li><li>Q9C413</li><li>P10873</li>	Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	rs28939368	4
Q9UBP4	27122		<li>G->R at 335: in dbSNP:rs3206824</li>									rs3206824	2
Q9UBQ7	9380		<li>R->Q at 170: in dbSNP:rs12002324</li>									rs12002324	2
Q9UBR1	51733		<li>A->E at 85: in beta-ureidopropionase deficiency; complete loss of activity: in dbSNP rsrs34035085, MIM: 606673</li><li>A->D at 340: in dbSNP:rs34110964, MIM: 606673</li>							<li>Q9UBR1</li><li>Q03248</li><li>Q5RBM6</li><li>Q8VC97</li>	Beta-ureidopropionase deficiency [MIM:606673]	<li>rs34110964</li><li>rs34035085</li>	2
Q9UBR2	1522		<li>P->S at 36</li><li>A->R at 129: requires 2 nucleotide substitutions</li><li>A->T at 286: in dbSNP:rs34069356</li>									rs34069356	2
Q9UBR4	8022		<li>Y->C at 111: in CPHD, MIM: 262600</li>								Combined pituitary hormone deficiency (CPHD) [MIM:262600]		2
Q9UBS0	6199		<li>P->L at 267: in dbSNP rsrs55987642</li><li>V->M at 368: in dbSNP rsrs55642995</li><li>V->A at 420: in dbSNP rsrs13859</li><li>T->M at 443: in an ovarian mucinous carcinoma sample; somatic mutation</li>									<li>rs55987642</li><li>rs13859</li><li>rs55642995</li>	2
Q9UBS3	4189		<li>R->H at 136: in dbSNP:rs17155937</li>									rs17155937	2
Q9UBS5	2550		<li>A->V at 20: in dbSNP:rs1805056</li><li>G->S at 489: in dbSNP:rs1805057</li><li>F->L at 645: in dbSNP:rs2076489</li>									<li>rs1805057</li><li>rs1805056</li><li>rs2076489</li>	2
Q9UBT2	10054		<li>L->R at 307: in dbSNP:rs1043062</li>									rs1043062	2
Q9UBT7	8727		<li>N->T at 91: in dbSNP:rs28361109</li><li>E->K at 203: in dbSNP:rs28361118</li><li>T->S at 424: in dbSNP:rs16913734</li><li>E->Q at 527: in dbSNP:rs7021366</li><li>D->E at 555: in dbSNP:rs34922868</li><li>I->N at 593: in dbSNP:rs28361167</li><li>M->R at 716: in dbSNP:rs28361182</li>									<li>rs34922868</li><li>rs7021366</li><li>rs28361118</li><li>rs28361109</li><li>rs16913734</li><li>rs28361182</li><li>rs28361167</li>	2
Q9UBU2	27123		<li>R->Q at 146: in dbSNP:rs17037102</li>									rs17037102	2
Q9UBU3	51738		<li>L->M at 72: in dbSNP:rs696217</li><li>Q->L at 90: in dbSNP:rs4684677</li>									<li>rs696217</li><li>rs4684677</li>	2
Q9UBU7	10926		<li>Y->N at 112: in dbSNP:rs1476703</li><li>H->R at 575: in dbSNP:rs2041049</li>									<li>rs2041049</li><li>rs1476703</li>	2
Q9UBV2	6400		<li>D->G at 162: in dbSNP:rs11499034</li><li>V->I at 714: in dbSNP:rs1051193</li>									<li>rs11499034</li><li>rs1051193</li>	2
Q9UBV4	51384		<li>G->R at 82: in dbSNP:rs2908004</li><li>V->M at 126: in a colorectal cancer sample; somatic mutation</li><li>T->I at 263: in dbSNP:rs2707466</li>									<li>rs2908004</li><li>rs2707466</li>	2
Q9UBV7	11285		<li>A->D at 186: in EDSP</li><li>L->P at 206: in EDSP</li>										2
Q9UBW5	51411		<li>S->N at 48: in dbSNP:rs7312857</li><li>N->D at 529: in dbSNP:rs7954976</li>									<li>rs7312857</li><li>rs7954976</li>	2
Q9UBX0	8820		<li>N->S at 125: in dbSNP:rs9878928</li><li>R->C at 160: in SOD; loss of DNA-binding: in dbSNP rsrs28936702, MIM: 182230</li>			DNA-binding	GO:0003677			<li>O75007</li><li>Q27666</li><li>P24705</li><li>Q9SM64</li><li>P51547</li><li>O12933</li><li>P93258</li><li>O22668</li><li>Q01137</li>	Septooptic dysplasia (SOD) [MIM:182230]	<li>rs9878928</li><li>rs28936702</li>	2
Q9UBX1	8722		<li>Q->R at 153: in dbSNP:rs11550508</li>									rs11550508	2
Q9UBX5	10516		<li>V->L at 60: in ARMD3: in dbSNP rsrs28939371, MIM: 608895</li><li>R->Q at 71: in ARMD3: in dbSNP rsrs28939372, MIM: 608895</li><li>P->S at 87: in ARMD3: in dbSNP rsrs28939373, MIM: 608895</li><li>I->T at 169: in ARMD3: in dbSNP rsrs28939072, MIM: 608895</li><li>S->P at 227: in CL type I: in dbSNP rsrs28939370, MIM: 219100</li><li>R->W at 351: in ARMD3: in dbSNP rsrs28939073, MIM: 608895</li><li>A->T at 363: in ARMD3, MIM: 608895</li><li>D->Y at 364: in dbSNP:rs1802492, MIM: 608895</li><li>G->E at 412: in ARMD3, MIM: 608895</li>								<li>Autosomal recessive cutis laxa type I (CL type I) [MIM:219100]</li><li>Age-related macular degeneration type 3 (ARMD3) [MIM:608895]</li>	<li>rs28939073</li><li>rs28939370</li><li>rs28939072</li><li>rs28939371</li><li>rs28939372</li><li>rs28939373</li><li>rs1802492</li>	2
Q9UBX7	11012		<li>A->T at 32: in dbSNP:rs2288892</li><li>G->E at 49: in dbSNP:rs3745539</li><li>R->C at 166: in dbSNP:rs1048328</li>									<li>rs1048328</li><li>rs3745539</li><li>rs2288892</li>	2
Q9UBX8	9331		<li>I->V at 379: in dbSNP:rs34683195</li>									rs34683195	2
Q9UBY0	6549		<li>T->S at 299: in a breast cancer sample; somatic mutation</li><li>R->Q at 806: in a breast cancer sample; somatic mutation</li>										2
Q9UBY5	23566		<li>R->Q at 231: in dbSNP:rs35745543</li>									rs35745543	2
Q9UBZ4	27301		<li>R->C at 141: in dbSNP:rs2301416</li><li>R->W at 141: in dbSNP:rs2301416</li>									rs2301416	2
Q9UDT6	7461		<li>R->P at 977: in dbSNP:rs2522943</li>									rs2522943	2
Q9UDV6	7988		<li>H->Y at 293: in dbSNP:rs34185245</li>									rs34185245	2
Q9UDV7	8427		<li>M->V at 273: in dbSNP:rs1202418</li>									rs1202418	2
Q9UDW1	29796		<li>I->V at 47: in dbSNP:rs14115</li>									rs14115	2
Q9UDX3	284904		<li>S->G at 3: in dbSNP:rs9608956</li><li>R->G at 124: in dbSNP:rs9606739</li><li>V->M at 200: in dbSNP:rs17738540</li><li>E->K at 211: in dbSNP:rs17738527</li>									<li>rs17738540</li><li>rs9608956</li><li>rs17738527</li><li>rs9606739</li>	2
Q9UDX4	266629		<li>I->T at 103: in dbSNP:rs4820853</li><li>R->H at 214: in dbSNP:rs2269961</li><li>D->E at 335: in dbSNP:rs2240345</li>									<li>rs2269961</li><li>rs4820853</li><li>rs2240345</li>	2
Q9UDY2	9414		<li>V->A at 48: in FHCA, MIM: 607748</li><li>E->D at 482: in dbSNP:rs2309428, MIM: 607748</li><li>M->I at 668: in dbSNP:rs34774441, MIM: 607748</li><li>S->P at 711: in dbSNP:rs35797487, MIM: 607748</li><li>K->N at 822: in dbSNP:rs1049624, MIM: 607748</li><li>N->D at 829: in dbSNP:rs1049625, MIM: 607748</li>								Familial hypercholanemia (FHCA) [MIM:607748]	<li>rs1049624</li><li>rs2309428</li><li>rs1049625</li><li>rs35797487</li><li>rs34774441</li>	2
Q9UDY6	10107		<li>R->H at 65: in dbSNP:rs12212092</li><li>V->M at 119: in dbSNP:rs17194446</li>									<li>rs17194446</li><li>rs12212092</li>	2
Q9UEE9	10428		<li>A->T at 60: in dbSNP:rs16963331</li>									rs16963331	2
Q9UEF7	9365		<li>P->Q at 15: in dbSNP:rs1052018</li><li>F->V at 45: in dbSNP:rs1052019</li><li>F->V at 352: in allele KL-VS; associated with S-370; dbSNP:rs9536314</li><li>C->S at 370: in allele KL-VS; associated with V-352; dbSNP:rs9527025</li><li>P->S at 514: in dbSNP:rs3752472</li><li>P->L at 954: in a colorectal cancer sample; somatic mutation</li>									<li>rs3752472</li><li>rs1052019</li><li>rs1052018</li><li>rs9536314</li><li>rs9527025</li>	2
Q9UEG4	23361		<li>P->A at 707: in dbSNP:rs8050758</li>									rs8050758	2
Q9UEW3	8685		<li>F->S at 282: in dbSNP:rs6761637</li>									rs6761637	2
Q9UF12	58510		<li>P->R at 91: in dbSNP:rs3848666</li><li>R->Q at 525: in dbSNP:rs3761097</li>									<li>rs3848666</li><li>rs3761097</li>	2
Q9UF33	285220		<li>F->S at 703</li>										2
Q9UF72	57212		<li>P->L at 120: in dbSNP:rs35766062</li>									rs35766062	2
Q9UFB7	92999		<li>A->T at 9: in dbSNP:rs9878239</li>									rs9878239	2
Q9UFD9			<li>R->C at 1419: in dbSNP:rs469096</li>									rs469096	2
Q9UFF9	9337		<li>L->P at 32: in dbSNP:rs1139980</li>									rs1139980	2
Q9UFH2			<li>D->N at 492: in dbSNP:rs34868091</li>									rs34868091	2
Q9UFN0	25934		<li>R->Q at 100: in dbSNP:rs2274870</li>									rs2274870	2
Q9UG01	26160		<li>R->H at 953: in dbSNP:rs704793</li>									rs704793	2
Q9UG22	26157		<li>V->F at 74: in dbSNP:rs11558054</li><li>N->S at 152: in dbSNP:rs17173567</li><li>H->R at 161: in dbSNP:rs2075078</li>									<li>rs17173567</li><li>rs2075078</li><li>rs11558054</li>	2
Q9UGC7	54516		<li>T->A at 38: in dbSNP:rs3818125</li><li>R->Q at 76: in dbSNP:rs3818123</li><li>L->F at 177: in dbSNP:rs12660881</li><li>V->I at 214: in dbSNP:rs3192723</li>									<li>rs3818123</li><li>rs3818125</li><li>rs3192723</li><li>rs12660881</li>	2
Q9UGF5	442191		<li>M->T at 7: in dbSNP:rs9257694</li><li>V->M at 278: in dbSNP:rs17404424</li>									<li>rs9257694</li><li>rs17404424</li>	2
Q9UGF6	81696		<li>L->W at 23: in dbSNP:rs6930033</li><li>I->M at 45: in dbSNP:rs9257770</li>									<li>rs9257770</li><li>rs6930033</li>	2
Q9UGF7	81797		<li>T->I at 97: in dbSNP:rs3749971</li><li>F->L at 250: in a breast cancer sample; somatic mutation</li><li>Y->H at 277: in dbSNP:rs9380122</li>									<li>rs9380122</li><li>rs3749971</li>	2
Q9UGI6	3782		<li>Missing at 81-85</li>										2
Q9UGI8	26136		<li>A->V at 221: in dbSNP:rs2272193</li>									rs2272193	2
Q9UGI9	53632		<li>P->A at 71: in dbSNP:rs692243</li><li>L->V at 153: in dbSNP:rs35050588</li><li>R->W at 340: in dbSNP:rs33985460</li>									<li>rs692243</li><li>rs33985460</li><li>rs35050588</li>	2
Q9UGJ0	51422		<li>M->L at 6: in dbSNP:rs3207363</li><li>R->Q at 302: in WPWS and CHMWPWS, MIM: 194200</li><li>R->RL at 350: in CHMWPWS; severe, MIM: 194200</li><li>H->R at 383: in CHMWPWS; severe, MIM: 600858</li><li>T->N at 400: in CHMWPWS; severe: in dbSNP rsrs28938173, MIM: 600858</li><li>N->I at 488: in CHMWPWS; severe, MIM: 600858</li><li>R->G at 531: in WPWS; absence of cardiac hypertrophy; onset in childhood, MIM: 194200</li><li>R->Q at 531: in GSDH; reduction of binding affinities for AMP and ATP; loss of cooperative binding; enhanced basal activity; increased phosphorylation of the alpha-subunit, MIM: 261740</li>	phosphorylation	GO:0016310	binding	GO:0005488			O24006	<li>Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]</li><li>Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]</li><li>Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CHMWPWS) [MIM:600858]</li>	<li>rs3207363</li><li>rs28938173</li>	2
Q9UGK8	26297		<li>K->E at 429: in dbSNP:rs1528</li><li>G->E at 457: in dbSNP:rs10788</li>									<li>rs10788</li><li>rs1528</li>	2
Q9UGL9	54544		<li>C->Y at 96: in dbSNP:rs16834168</li>									rs16834168	2
Q9UGM1	55584		<li>R->Q at 96: in dbSNP:rs10024518</li><li>S->N at 442: in dbSNP:rs10009228</li>									<li>rs10009228</li><li>rs10024518</li>	2
Q9UGM3	1755		<li>P->T at 42: in dbSNP:rs11523871</li><li>S->W at 52</li><li>S->L at 54: in dbSNP:rs3013236</li><li>V->A at 60</li><li>P->L at 65</li><li>N->D at 322: in dbSNP:rs1969620</li><li>Q->L at 337</li><li>P->S at 357</li><li>R->G at 364</li><li>Q->H at 420: in glioma of the brain; glioblastoma multiforme; somatic mutation, MIM: 137800</li><li>G->V at 607: in glioma of the brain; pilocytic astrocytoma, MIM: 137800</li><li>T->M at 649, MIM: 137800</li><li>R->W at 656, MIM: 137800</li><li>R->C at 670: in dbSNP:rs2277237, MIM: 137800</li><li>T->M at 719: in dbSNP:rs2277238, MIM: 137800</li><li>T->M at 780, MIM: 137800</li><li>P->S at 856: in dbSNP:rs2277240, MIM: 137800</li><li>H->Y at 1084: in dbSNP:rs2277244, MIM: 137800</li><li>M->T at 1169: in dbSNP:rs3758437, MIM: 137800</li><li>R->W at 1176, MIM: 137800</li><li>V->M at 1545, MIM: 137800</li><li>H->S at 1732: requires 2 nucleotide substitutions, MIM: 137800</li><li>R->L at 1860: in dbSNP:rs7099177, MIM: 137800</li><li>T->P at 1961, MIM: 137800</li>								Glioma of the brain [MIM:137800]	<li>rs3758437</li><li>rs2277240</li><li>rs1969620</li><li>rs2277237</li><li>rs11523871</li><li>rs7099177</li><li>rs2277238</li><li>rs2277244</li><li>rs3013236</li>	2
Q9UGM5	26998		<li>S->P at 33: in dbSNP:rs34522046</li><li>G->S at 202: in dbSNP:rs6785067</li><li>K->R at 360: in dbSNP:rs7999</li>									<li>rs6785067</li><li>rs34522046</li><li>rs7999</li>	2
Q9UGM6	10352		<li>G->S at 50: in dbSNP:rs11552864</li><li>A->P at 267: in dbSNP:rs3790549</li><li>L->P at 360: in dbSNP:rs17023101</li>									<li>rs17023101</li><li>rs11552864</li><li>rs3790549</li>	2
Q9UGN4	11314		<li>R->Q at 111: in dbSNP:rs2272111</li>									rs2272111	2
Q9UGN5	10038		<li>S->N at 161: in dbSNP:rs3093905</li><li>N->S at 168: in dbSNP:rs3093906</li><li>D->G at 235: in dbSNP:rs3093921</li><li>I->V at 285: in dbSNP:rs3093925</li><li>R->Q at 296: in dbSNP:rs3093926</li><li>I->T at 331: in dbSNP:rs2275010</li>									<li>rs3093921</li><li>rs3093905</li><li>rs3093906</li><li>rs2275010</li><li>rs3093925</li><li>rs3093926</li>	2
Q9UGP4	8994		<li>G->D at 36: in dbSNP:rs2578662</li><li>G->R at 415: in dbSNP:rs3733113</li>									<li>rs2578662</li><li>rs3733113</li>	2
Q9UGP8	11231		<li>Missing  at 568: in PCLD</li>										2
Q9UGQ3	11182		<li>T->M at 500: in dbSNP:rs3094378</li>									rs3094378	2
Q9UGT4	56241		<li>R->Q at 59: in dbSNP:rs17842275</li><li>S->T at 110: in dbSNP:rs9680526</li><li>N->S at 466: in dbSNP:rs8141797</li>									<li>rs17842275</li><li>rs8141797</li><li>rs9680526</li>	2
Q9UGU0	6942		<li>M->V at 405: in dbSNP:rs34030679</li><li>T->N at 485: in dbSNP:rs6002656</li><li>S->G at 722: in dbSNP:rs5758651</li><li>M->I at 1165: in dbSNP:rs17002890</li><li>S->N at 1325: in dbSNP:rs17002888</li><li>Y->C at 1910: in dbSNP:rs17002865</li>									<li>rs34030679</li><li>rs17002888</li><li>rs17002865</li><li>rs6002656</li><li>rs17002890</li><li>rs5758651</li>	2
Q9UGU5	10042		<li>G->V at 165: in dbSNP:rs1053593</li>									rs1053593	2
Q9UH17	9582		<li>K->E at 62: in dbSNP:rs2076109</li><li>P->L at 98: in dbSNP:rs2076110</li><li>S->A at 109: in dbSNP:rs17000697</li><li>T->K at 146: in dbSNP:rs5995649</li><li>R->H at 351: in dbSNP:rs1053813</li>									<li>rs17000697</li><li>rs1053813</li><li>rs2076109</li><li>rs5995649</li><li>rs2076110</li>	2
Q9UH36	402055		<li>Missing at 44-50</li><li>A->T at 99: in dbSNP:rs4820682</li>									rs4820682	2
Q9UH90	51725		<li>V->A at 87: in dbSNP:rs4676684</li>									rs4676684	2
Q9UH92	6945		<li>Q->R at 223: in dbSNP:rs665268</li>									rs665268	2
Q9UH99	25777		<li>T->A at 33: in dbSNP:rs2072799</li><li>L->R at 89: in dbSNP:rs35496634</li><li>R->C at 348: in dbSNP:rs138708</li><li>G->S at 671: in dbSNP:rs2072797</li>									<li>rs2072797</li><li>rs138708</li><li>rs35496634</li><li>rs2072799</li>	2
Q9UHA7	27179		<li>Q->R at 12: in dbSNP:rs895497</li><li>I->T at 63: in dbSNP:rs28938798</li><li>G->R at 134: in dbSNP:rs28947175</li>									<li>rs895497</li><li>rs28947175</li><li>rs28938798</li>	2
Q9UHB4	27158		<li>V->I at 522: in allele NDOR1*1; shows a decrease in affinity for NADPH and a reduction in ferricyanide reductase activity</li>										2
Q9UHB7	27125		<li>T->P at 136: in dbSNP:rs34527550</li>									rs34527550	2
Q9UHC1	27030		<li>Q->E at 24: in HNPCC7; dbSNP:rs28937870, MIM: 604395</li><li>R->G at 93: in dbSNP:rs28756978, MIM: 604395</li><li>F->S at 120: in dbSNP:rs28756979, MIM: 604395</li><li>K->Q at 231: in dbSNP:rs28756981, MIM: 604395</li><li>V->I at 420: in dbSNP:rs28756982, MIM: 604395</li><li>L->V at 492: in dbSNP:rs28756983, MIM: 604395</li><li>H->R at 494, MIM: 604395</li><li>N->S at 499: in HNPCC7; dbSNP:rs28937871, MIM: 604395</li><li>R->Q at 600: in dbSNP:rs28756984, MIM: 604395</li><li>T->P at 606: in dbSNP:rs28756985, MIM: 604395</li><li>E->Q at 624: in HNPCC7; dbSNP:rs28756986, MIM: 604395</li><li>R->C at 647: in HNPCC7; dbSNP:rs28756987, MIM: 604395</li><li>Y->C at 720: in dbSNP:rs28756988, MIM: 604395</li><li>V->I at 723: in dbSNP:rs28756989, MIM: 604395</li><li>V->F at 741: in dbSNP:rs28756990, MIM: 604395</li><li>R->H at 797: in dbSNP:rs28756991, MIM: 604395</li><li>S->G at 817: in HNPCC7, MIM: 604395</li><li>D->N at 826: in dbSNP:rs175081, MIM: 604395</li><li>P->L at 844: in dbSNP:rs175080, MIM: 604395</li><li>S->G at 845: in dbSNP:rs28756992, MIM: 604395</li><li>T->I at 942: in dbSNP:rs17102999, MIM: 604395</li><li>S->P at 966: in dbSNP:rs17782839, MIM: 604395</li><li>G->S at 981: in HNPCC7, MIM: 604395</li><li>N->S at 1007: in HNPCC7, MIM: 604395</li><li>D->N at 1073: in dbSNP:rs28756993, MIM: 604395</li><li>D->E at 1105: in dbSNP:rs28757008, MIM: 604395</li><li>G->D at 1163: in dbSNP:rs28757011, MIM: 604395</li><li>G->R at 1319: in dbSNP rsrs28757040, MIM: 604395</li><li>A->T at 1394: in HNPCC7, MIM: 604395</li><li>E->K at 1451: in HNPCC7: in dbSNP rsrs28939071, MIM: 604395</li>								Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:604395]	<li>rs28756990</li><li>rs17782839</li><li>rs28757040</li><li>rs28756988</li><li>rs28756989</li><li>rs28756986</li><li>rs28756987</li><li>rs28756984</li><li>rs28756985</li><li>rs28756982</li><li>rs28756983</li><li>rs28756993</li><li>rs175080</li><li>rs28756992</li><li>rs28756981</li><li>rs28756991</li><li>rs175081</li><li>rs28757011</li><li>rs28937871</li><li>rs28937870</li><li>rs17102999</li><li>rs28939071</li><li>rs28756978</li><li>rs28756979</li><li>rs28757008</li>	2
Q9UHC6	26047		<li>R->Q at 114</li><li>T->M at 218</li><li>L->M at 226</li><li>R->C at 283</li><li>S->N at 382</li><li>N->S at 407</li><li>N->D at 418</li><li>E->K at 680</li><li>P->Q at 699</li><li>Y->C at 716</li><li>G->S at 731</li><li>G->D at 779</li><li>I->T at 869: associated with susceptibility to autism</li><li>R->H at 906</li><li>D->N at 1038</li><li>V->A at 1102</li><li>S->G at 1114</li><li>R->H at 1119</li><li>D->H at 1129</li><li>A->T at 1227</li><li>I->T at 1253</li><li>T->I at 1278</li>										2
Q9UHC7	23608		<li>V->L at 243: in dbSNP:rs2272095</li>									rs2272095	2
Q9UHC9	29881		<li>V->L at 55: non-response to ezetimibe treatment</li><li>I->N at 1233: non-response to ezetimibe treatment: in dbSNP rsrs52815063</li>									rs52815063	2
Q9UHD0	29949		<li>F->S at 175: in dbSNP:rs2243191</li>									rs2243191	2
Q9UHD1	26973		<li>A->D at 329: in dbSNP:rs1045861</li>									rs1045861	2
Q9UHD8	10801		<li>R->C at 76</li><li>R->W at 106: in HNA, MIM: 162100</li><li>S->F at 111: in HNA, MIM: 162100</li><li>P->L at 145, MIM: 162100</li><li>M->V at 576, MIM: 162100</li>								Hereditary neuralgic amyotrophy (HNA) [MIM:162100]		2
Q9UHD9	29978		<li>L->H at 235: in dbSNP:rs17002693</li>									rs17002693	2
Q9UHE5	9027		<li>E->K at 104: in dbSNP:rs13424561</li><li>F->S at 143: in dbSNP:rs13538</li>									<li>rs13538</li><li>rs13424561</li>	2
Q9UHE8	26872		<li>H->Q at 47: in dbSNP:rs4015375</li><li>F->L at 169: in dbSNP:rs2888782</li>									<li>rs2888782</li><li>rs4015375</li>	2
Q9UHF1	51162		<li>V->I at 153: in dbSNP:rs2297538</li><li>P->S at 183: in dbSNP:rs35863900</li><li>A->G at 186: in dbSNP:rs34142075</li>									<li>rs35863900</li><li>rs2297538</li><li>rs34142075</li>	2
Q9UHF4	53832		<li>V->I at 259: in dbSNP:rs1555498</li><li>L->F at 382: in dbSNP:rs1342642</li>									<li>rs1555498</li><li>rs1342642</li>	2
Q9UHF7	7227		<li>S->L at 654: in dbSNP:rs7002384</li><li>V->D at 894: in TRPS3; in heterozygous status has a milder effect causing TRPS1, MIM: 190351</li><li>T->P at 901: in TRPS3; severe, MIM: 190351</li><li>R->P at 908: in TRPS3; severe, MIM: 190351</li><li>R->Q at 908: in TRPS3, MIM: 190351</li><li>A->T at 919: in TRPS3, MIM: 190351</li><li>R->C at 952: in TRPS1; prevents the transport into the nucleus and thus reduces the nuclear TRPS1 concentration consistent with haploinsufficiency, MIM: 190350</li><li>R->H at 952: in TRPS1; prevents the transport into the nucleus and thus reduces the nuclear TRPS1 concentration consistent with haploinsufficiency, MIM: 190350</li>	transport	GO:0006810			nucleus	GO:0005634	Q9UHF7	<li>Tricho-rhino-phalangeal syndrome type III (TRPS3) [MIM:190351]</li><li>Tricho-rhino-phalangeal syndrome type I (TRPS1) [MIM:190350]</li>	rs7002384	2
Q9UHG0	51473		<li>P->A at 152: in dbSNP:rs33914824</li><li>S->G at 221: in dbSNP:rs2274305</li><li>K->N at 456: in dbSNP:rs9460973</li>									<li>rs33914824</li><li>rs9460973</li><li>rs2274305</li>	2
Q9UHG3	51449		<li>S->F at 149: in dbSNP:rs2706762</li><li>T->S at 414: in dbSNP:rs17005441</li><li>S->G at 465: in dbSNP:rs34041544</li>									<li>rs17005441</li><li>rs34041544</li><li>rs2706762</li>	2
Q9UHI7	9963		<li>I->V at 218: in dbSNP:rs34521685</li><li>M->V at 258: in dbSNP:rs35817838</li><li>V->M at 264: in dbSNP:rs33972313</li>									<li>rs33972313</li><li>rs34521685</li><li>rs35817838</li>	2
Q9UHI8	9510		<li>A->P at 227: in dbSNP:rs428785</li>									rs428785	2
Q9UHJ6	23729		<li>E->K at 215: in dbSNP:rs150857</li><li>E->D at 421: in dbSNP:rs224496</li><li>L->M at 434: in dbSNP:rs36125540</li>									<li>rs224496</li><li>rs36125540</li><li>rs150857</li>	2
Q9UHK0	26747		<li>S->R at 36: in dbSNP:rs1140993</li>									rs1140993	2
Q9UHK6			<li>V->M at 9</li><li>S->P at 52: in AMACRD and CBAS4; inactive enzyme, MIM: 214950</li><li>L->P at 107: in CBAS4; inactive enzyme, MIM: 214950</li><li>G->D at 175, MIM: 214950</li><li>S->L at 201, MIM: 214950</li><li>K->E at 277, MIM: 214950</li>								<li>Alpha-methylacyl-CoA racemase deficiency (AMACRD) [MIM:604489]</li><li>Congenital bile acid synthesis defect type 4 (CBAS4) [MIM:214950]</li>		2
Q9UHL4	29952		<li>A->G at 89: in dbSNP:rs10747049</li>									rs10747049	2
Q9UHM6	94233		<li>P->L at 10: in dbSNP:rs2675703</li><li>T->I at 394: in dbSNP:rs1079610</li><li>G->D at 444: in dbSNP:rs12262894</li>									<li>rs2675703</li><li>rs1079610</li><li>rs12262894</li>	2
Q9UHN1	11232		<li>A->T at 169: in dbSNP:rs1427463</li><li>G->A at 416: in dbSNP:rs17850455</li><li>G->E at 451: in PEOA4; affects stimulation of the catalytic subunit, MIM: 610131</li>								Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 4 (PEOA4) [MIM:610131]	<li>rs1427463</li><li>rs17850455</li>	2
Q9UHN6	23670		<li>R->K at 245: in dbSNP:rs25688</li><li>R->H at 291: in dbSNP:rs25689</li><li>D->E at 423: in dbSNP:rs25695</li><li>P->S at 765: in dbSNP:rs25692</li><li>I->V at 1010: in dbSNP:rs17057133</li><li>S->N at 1254: in dbSNP:rs2297089</li><li>G->D at 1280: in dbSNP:rs17475375</li>									<li>rs25689</li><li>rs25695</li><li>rs25688</li><li>rs2297089</li><li>rs17475375</li><li>rs25692</li><li>rs17057133</li>	2
Q9UHP6	27156		<li>T->M at 42: in dbSNP:rs35211242</li>									rs35211242	2
Q9UHP7	29121		<li>N->K at 19: in dbSNP:rs16914640</li><li>L->V at 23: in dbSNP:rs3764022</li>									<li>rs16914640</li><li>rs3764022</li>	2
Q9UHQ9	51706		<li>N->S at 44: in dbSNP:rs2232842</li>									rs2232842	2
Q9UHR6	741		<li>A->P at 59: in a breast cancer sample; somatic mutation</li><li>E->K at 155: in dbSNP:rs11556920</li><li>A->V at 176: in dbSNP:rs35983251</li>									<li>rs35983251</li><li>rs11556920</li>	2
Q9UHV2	29950		<li>T->A at 31: in dbSNP:rs268687</li>									rs268687	2
Q9UHW5	51184		<li>A->V at 52: in dbSNP:rs17856906</li><li>V->A at 244: in dbSNP:rs17850320</li>									<li>rs17850320</li><li>rs17856906</li>	2
Q9UHW9	9990		<li>F->S at 415: in dbSNP:rs2705339</li>									rs2705339	2
Q9UHY1	29959		<li>V->I at 365: in dbSNP rsrs56004639</li><li>P->L at 432: in an ovarian mucinous carcinoma sample; somatic mutation</li><li>H->R at 460: in dbSNP rsrs34260196</li>									<li>rs34260196</li><li>rs56004639</li>	2
Q9UHY8	9637		<li>P->L at 50: in dbSNP:rs1544655</li><li>R->C at 329: in dbSNP:rs848642</li>									<li>rs848642</li><li>rs1544655</li>	2
Q9UI08	51466		<li>P->L at 188: in a colorectal cancer sample; somatic mutation</li><li>P->L at 247: in a colorectal cancer sample; somatic mutation</li>										2
Q9UI10	8890		<li>A->V at 93: in dbSNP:rs34155621</li><li>A->V at 228: in VWM, MIM: 603896</li><li>R->G at 306, MIM: 603896</li><li>R->Q at 357: in VWM, MIM: 603896</li><li>R->C at 374: in VWM, MIM: 603896</li><li>C->R at 465: in ovarioleukodystrophy, MIM: 603896</li><li>Y->H at 489: in ovarioleukodystrophy, MIM: 603896</li>								<li>Leukoencephalopathy with vanishing white matter (VWM) [MIM:603896]</li><li>Ovarioleukodystrophy [MIM:603896]</li>	rs34155621	2
Q9UI17	29958		<li>H->R at 109: in DMGDHD, MIM: 605850</li><li>S->P at 279: in dbSNP:rs532964, MIM: 605850</li><li>G->A at 530: in dbSNP:rs1805073, MIM: 605850</li><li>P->S at 646: in dbSNP:rs1805074, MIM: 605850</li>								DMGDH deficiency (DMGDHD) [MIM:605850]	<li>rs1805073</li><li>rs1805074</li><li>rs532964</li>	2
Q9UI26	51194		<li>N->D at 260: in dbSNP:rs35107530</li><li>I->V at 937: in dbSNP:rs11544795</li>									<li>rs11544795</li><li>rs35107530</li>	2
Q9UI32	27165		<li>L->P at 581: in dbSNP:rs2657879</li>									rs2657879	2
Q9UI33	11280		<li>G->E at 481: in dbSNP:rs13059805</li><li>M->R at 777: in dbSNP:rs4302324</li><li>V->I at 909: in dbSNP:rs33985936</li><li>Y->H at 1198: in dbSNP:rs12638601</li>									<li>rs4302324</li><li>rs13059805</li><li>rs12638601</li><li>rs33985936</li>	2
Q9UI38	29122		<li>Q->P at 75: in dbSNP:rs34788938</li><li>V->I at 98: in dbSNP:rs35866901</li>									<li>rs35866901</li><li>rs34788938</li>	2
Q9UI42	51200		<li>L->F at 27: in dbSNP:rs34587586</li><li>P->T at 157: in dbSNP:rs3735051</li><li>R->L at 183: in dbSNP:rs3735053</li><li>G->C at 303: in dbSNP:rs2171492</li>									<li>rs3735053</li><li>rs2171492</li><li>rs3735051</li><li>rs34587586</li>	2
Q9UI46	27019		<li>A->S at 8: in dbSNP:rs11547035</li><li>A->V at 60: in dbSNP:rs16931549</li><li>Q->H at 326: in dbSNP:rs16931555</li><li>V->I at 335: in dbSNP:rs11793196</li><li>V->G at 487: in dbSNP:rs11999454</li><li>G->S at 515: in KTGS: in dbSNP rsrs28939369, MIM: 244400</li>								Kartagener syndrome (KTGS) [MIM:244400]	<li>rs28939369</li><li>rs11547035</li><li>rs16931555</li><li>rs16931549</li><li>rs11999454</li><li>rs11793196</li>	2
Q9UI47	29119		<li>S->N at 596: in dbSNP:rs4548513</li>									rs4548513	2
Q9UIA0	27128		<li>M->V at 74: in dbSNP:rs16998061</li>									rs16998061	2
Q9UIA9	23039		<li>E->D at 398: in dbSNP:rs17856894</li><li>C->Y at 835: in dbSNP:rs17856895</li>									<li>rs17856895</li><li>rs17856894</li>	2
Q9UIE0	7773		<li>S->C at 310: in dbSNP:rs1060877</li><li>F->Y at 434: in dbSNP:rs6413542</li><li>D->E at 441: in dbSNP:rs12753</li>									<li>rs1060877</li><li>rs12753</li><li>rs6413542</li>	2
Q9UIF3	27285		<li>R->C at 46: in dbSNP:rs12043423</li><li>I->T at 114: in dbSNP:rs419653</li>									<li>rs12043423</li><li>rs419653</li>	2
Q9UIF7	4595		<li>V->M at 22: in dbSNP:rs3219484</li><li>Y->H at 125: in MYH polyposis</li><li>W->R at 128: in autosomal recessive colorectal adenomatous polyposis, MIM: 608456</li><li>Y->C at 176: in autosomal recessive colorectal adenomatous polyposis: in dbSNP rsrs34612342, MIM: 608456</li><li>R->H at 179: in MYH polyposis, MIM: 608456</li><li>R->W at 238: in MYH polyposis: in dbSNP rsrs34126013, MIM: 608456</li><li>Q->H at 335: in dbSNP:rs3219489, MIM: 608456</li><li>A->V at 370: in dbSNP:rs35352891, MIM: 608456</li><li>G->D at 393: in autosomal recessive colorectal adenomatous polyposis: in dbSNP rsrs36053993, MIM: 608456</li><li>P->S at 402: in gastric cancer; sporadic, MIM: 137215</li><li>Q->R at 411: in gastric cancer; sporadic, MIM: 137215</li><li>G->E at 500: in dbSNP:rs3219494, MIM: 137215</li><li>S->F at 512, MIM: 137215</li><li>L->M at 526: in dbSNP:rs3219496, MIM: 137215</li><li>R->Q at 531: in dbSNP:rs3219497, MIM: 137215</li>							Q9UIF7	<li>Autosomal recessive colorectal adenomatous polyposis [MIM:608456]</li><li>Gastric cancer [MIM:137215]</li>	<li>rs34126013</li><li>rs3219496</li><li>rs3219497</li><li>rs36053993</li><li>rs3219489</li><li>rs3219484</li><li>rs35352891</li><li>rs34612342</li><li>rs3219494</li>	2
Q9UIG4	170680		<li>G->D at 25: in dbSNP:rs2233950</li><li>P->L at 84</li>									rs2233950	2
Q9UIG5	170679		<li>P->T at 24: in dbSNP:rs1265097</li><li>E->K at 34: in dbSNP:rs1265096</li><li>E->Q at 34</li><li>R->H at 37: in dbSNP:rs9263726</li><li>P->S at 43: in dbSNP:rs9501057</li><li>S->C at 66: in dbSNP:rs2233943</li><li>P->L at 133: in dbSNP:rs1063646</li>									<li>rs9263726</li><li>rs1063646</li><li>rs2233943</li><li>rs1265097</li><li>rs1265096</li><li>rs9501057</li>	2
Q9UII6	51207		<li>Y->C at 156: in dbSNP:rs3088142</li>									rs3088142	2
Q9UIJ5	51201		<li>S->F at 306: in hepatocellular carcinoma; somatic mutation</li><li>M->I at 356: in colorectal cancer; somatic mutation</li>										2
Q9UIL4	3834		<li>T->P at 229: in dbSNP:rs12197062</li><li>A->T at 255: in dbSNP:rs2073634</li>									<li>rs12197062</li><li>rs2073634</li>	2
Q9UIQ6	4012		<li>S->P at 86: in dbSNP:rs3797799</li><li>N->I at 594: in dbSNP:rs12520455</li><li>A->T at 763: in dbSNP:rs2303138</li><li>S->T at 913: in dbSNP:rs17087233</li><li>I->V at 963: in dbSNP:rs11746232</li>									<li>rs2303138</li><li>rs12520455</li><li>rs11746232</li><li>rs17087233</li><li>rs3797799</li>	2
Q9UIR0	56244		<li>W->R at 94: in dbSNP:rs28362682</li><li>V->M at 188: in dbSNP:rs9461742</li><li>K->E at 196: in dbSNP:rs2076523</li><li>D->V at 283: in dbSNP:rs34423804</li><li>S->L at 334: in dbSNP:rs28362679</li><li>A->T at 352: in dbSNP:rs35037492</li><li>S->G at 360: in dbSNP:rs2076530</li><li>P->L at 379: in dbSNP:rs28362678</li><li>M->I at 380: in dbSNP:rs28362677</li><li>P->Q at 393: in dbSNP:rs41521946</li>									<li>rs9461742</li><li>rs41521946</li><li>rs2076530</li><li>rs28362679</li><li>rs34423804</li><li>rs35037492</li><li>rs28362682</li><li>rs28362678</li><li>rs28362677</li><li>rs2076523</li>	2
Q9UIU6			<li>E->Q at 2: in a breast cancer sample; somatic mutation</li><li>G->D at 425: in a breast cancer sample; somatic mutation</li><li>D->E at 759: in a breast cancer sample; somatic mutation</li>										2
Q9UIV8	5275		<li>G->S at 293: in dbSNP:rs1020694</li>									rs1020694	2
Q9UIW0	25806		<li>P->R at 254: in dbSNP:rs2234500</li>									rs2234500	2
Q9UIX4	3755		<li>I->M at 304: in dbSNP:rs17791052</li>									rs17791052	2
Q9UJ04	23270		<li>R->L at 30: in dbSNP:rs2232470</li>									rs2232470	2
Q9UJ70	55577		<li>W->R at 38: in dbSNP:rs17856147</li><li>A->V at 60: in dbSNP:rs17849984</li>									<li>rs17856147</li><li>rs17849984</li>	2
Q9UJ72	11199		<li>M->L at 71: in dbSNP:rs6836994</li>									rs6836994	2
Q9UJ78	9205		<li>I->V at 125: in dbSNP:rs9579718</li><li>C->F at 137: in dbSNP:rs9579717</li>									<li>rs9579718</li><li>rs9579717</li>	2
Q9UJ90	23630		<li>P->S at 33: in dbSNP:rs17003955</li><li>E->Q at 114: in dbSNP:rs41312935</li>									<li>rs17003955</li><li>rs41312935</li>	2
Q9UJA3	84515		<li>Q->K at 63: in dbSNP:rs236110</li><li>K->N at 101: in dbSNP:rs6117014</li><li>N->S at 183: in dbSNP:rs16991591</li><li>E->K at 341: in dbSNP:rs16991615</li><li>S->N at 365: in dbSNP:rs28403619</li><li>N->S at 785: in dbSNP:rs16991638</li>									<li>rs16991638</li><li>rs16991615</li><li>rs28403619</li><li>rs16991591</li><li>rs6117014</li><li>rs236110</li>	2
Q9UJA5	51605		<li>E->K at 293: in dbSNP:rs6139876</li><li>E->G at 299: in dbSNP:rs451571</li><li>P->L at 333: in dbSNP:rs35203742</li>									<li>rs451571</li><li>rs35203742</li><li>rs6139876</li>	2
Q9UJA9	59084		<li>L->I at 6: in dbSNP:rs3806995</li><li>R->P at 39: in dbSNP:rs34109856</li><li>I->V at 69: in dbSNP:rs34432940</li><li>I->V at 171: in dbSNP:rs6926570</li><li>Y->C at 283: in dbSNP:rs16874326</li>									<li>rs34109856</li><li>rs6926570</li><li>rs16874326</li><li>rs34432940</li><li>rs3806995</li>	2
Q9UJC3	51361		<li>S->L at 433: in a breast cancer sample; somatic mutation</li>										2
Q9UJF2	9462		<li>R->W at 165: in a colorectal cancer sample; somatic mutation</li><li>E->D at 379: in a breast cancer sample; somatic mutation</li>										2
Q9UJG1	56180		<li>V->I at 63: in a breast cancer sample; somatic mutation</li>										2
Q9UJJ7	113000		<li>E->Q at 124: in dbSNP:rs2272898</li><li>L->P at 247: in dbSNP:rs3751672</li>									<li>rs3751672</li><li>rs2272898</li>	2
Q9UJL9	65243		<li>C->Y at 13: in dbSNP:rs2272994</li><li>G->R at 257: in dbSNP:rs12407929</li>									<li>rs12407929</li><li>rs2272994</li>	2
Q9UJM3	54206		<li>I->L at 158: in dbSNP:rs34974993</li>									rs34974993	2
Q9UJN7	346157		<li>K->R at 51: in dbSNP:rs10807020</li><li>G->C at 59: in dbSNP:rs10807021</li>									<li>rs10807021</li><li>rs10807020</li>	2
Q9UJQ1	24141		<li>D->G at 12: in dbSNP:rs2232259</li><li>I->V at 81: in dbSNP:rs2232263</li><li>Q->E at 103: in dbSNP:rs2232264</li><li>S->G at 158: in dbSNP:rs2232266</li>									<li>rs2232266</li><li>rs2232264</li><li>rs2232259</li><li>rs2232263</li>	2
Q9UJQ4	57167		<li>L->R at 507: in dbSNP:rs6126344</li><li>I->L at 798: in dbSNP:rs6091375</li><li>H->R at 888: in DRRS, MIM: 607323</li>								Duane-radial ray syndrome (DRRS) [MIM:607323]	<li>rs6091375</li><li>rs6126344</li>	2
Q9UJQ7	140856		<li>P->S at 99: in dbSNP:rs1053839</li>									rs1053839	2
Q9UJS0	10165		<li>E->K at 141: in dbSNP:rs1131697</li><li>L->I at 232: in dbSNP:rs10255762</li><li>E->K at 601: in NICCD, MIM: 605814</li>								Neonatal intrahepatic cholestasis due to citrin deficiency (NICCD) [MIM:605814]	<li>rs1131697</li><li>rs10255762</li>	2
Q9UJT1	51174		<li>M->T at 76: in dbSNP:rs1292053</li>									rs1292053	2
Q9UJT2	60385		<li>G->R at 19: in a colorectal cancer sample; somatic mutation</li><li>E->K at 167: in dbSNP:rs34701020</li><li>D->G at 382: in dbSNP:rs2304202</li>									<li>rs34701020</li><li>rs2304202</li>	2
Q9UJU2	51176		<li>G->R at 113: in a colorectal cancer sample; somatic mutation</li>										2
Q9UJV3	11043		<li>A->D at 358: in dbSNP:rs12849510</li>									rs12849510	2
Q9UJV8	29942		<li>S->G at 26: in dbSNP:rs11574153</li><li>E->K at 143: in dbSNP:rs7464560</li><li>E->A at 241: in dbSNP:rs11574151</li><li>K->T at 316: in a breast cancer sample; somatic mutation</li>									<li>rs11574153</li><li>rs11574151</li><li>rs7464560</li>	2
Q9UJW0	51164		<li>P->T at 95: in dbSNP:rs11550931</li><li>Y->C at 263: in dbSNP:rs35772018</li><li>F->L at 342: in dbSNP:rs11954652</li><li>S->N at 438: in dbSNP:rs3733923</li>									<li>rs11954652</li><li>rs3733923</li><li>rs11550931</li><li>rs35772018</li>	2
Q9UJW2			<li>T->A at 3: in dbSNP:rs16885197</li><li>Q->R at 22: in dbSNP:rs2297980</li><li>P->S at 158: in dbSNP:rs1058768</li><li>V->I at 413: in dbSNP:rs34011963</li><li>I->L at 433: in dbSNP:rs3736352</li>									<li>rs3736352</li><li>rs1058768</li><li>rs34011963</li><li>rs2297980</li><li>rs16885197</li>	2
Q9UJW3	29947		<li>R->G at 278: in dbSNP:rs7354779</li>									rs7354779	2
Q9UJW8	7733		<li>A->V at 41: in dbSNP:rs2571108</li><li>W->C at 89: in dbSNP:rs2253563</li><li>C->S at 272: in dbSNP:rs1897820</li>									<li>rs2253563</li><li>rs2571108</li><li>rs1897820</li>	2
Q9UJX2	8697		<li>P->L at 3: in dbSNP:rs2231471</li><li>E->Q at 72: in dbSNP:rs17228304</li>									<li>rs2231471</li><li>rs17228304</li>	2
Q9UJX4	51433		<li>Q->H at 617: in a breast cancer sample; somatic mutation</li>										2
Q9UJX5	29945		<li>I->V at 155: in a colorectal cancer sample; somatic mutation</li><li>R->Q at 465: in dbSNP:rs34811474</li><li>E->G at 800: in dbSNP:rs11550697</li>									<li>rs34811474</li><li>rs11550697</li>	2
Q9UJY1	26353		<li>G->S at 67: in a glioblastoma multiforme sample; somatic mutation</li><li>R->M at 78: in dbSNP rsrs55826713</li><li>K->E at 141: in HMN2A; strengthen interaction with HSPB1, MIM: 158590</li><li>K->N at 141: in HMN2A and CMT2L; strengthen interaction with HSPB1, MIM: 158590</li>							<li>Q5S1U1</li><li>Q3T149</li><li>O13224</li><li>P15991</li><li>P04792</li><li>P42929</li><li>Q00649</li>	<li>Charcot-Marie-Tooth disease type 2L (CMT2L) [MIM:608673]</li><li>Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]</li>	rs55826713	2
Q9UJZ1	30968		<li>L->P at 129: in dbSNP:rs17856326</li>									rs17856326	2
Q9UK00	51161		<li>A->D at 8: in dbSNP:rs386598</li><li>V->A at 162: in dbSNP:rs1034405</li>									<li>rs1034405</li><li>rs386598</li>	2
Q9UK10	7768		<li>Q->R at 50: in dbSNP:rs34863330</li><li>T->S at 679: in dbSNP:rs16978738</li>									<li>rs34863330</li><li>rs16978738</li>	2
Q9UK12	7673		<li>K->E at 50: in dbSNP:rs11880330</li><li>V->F at 58: in dbSNP:rs7258517</li><li>G->D at 263: in dbSNP:rs8112679</li>									<li>rs11880330</li><li>rs8112679</li><li>rs7258517</li>	2
Q9UK13	7638		<li>V->M at 165: in dbSNP:rs16976937</li><li>I->F at 179: in dbSNP:rs454301</li><li>R->C at 256: in dbSNP:rs439676</li><li>P->A at 337: in dbSNP:rs435590</li><li>T->S at 519: in dbSNP:rs365745</li><li>R->G at 557: in dbSNP:rs366111</li>									<li>rs16976937</li><li>rs365745</li><li>rs439676</li><li>rs366111</li><li>rs454301</li><li>rs435590</li>	2
Q9UK17	3752		<li>V->M at 94: in a colorectal cancer sample; somatic mutation</li>										2
Q9UK22	26232		<li>K->T at 118: in dbSNP:rs9614</li>									rs9614	2
Q9UK23			<li>I->T at 465: in dbSNP:rs7188856</li>									rs7188856	2
Q9UK32	27330		<li>Y->C at 140: in a lung large cell carcinoma sample; somatic mutation</li><li>S->T at 258: in a lung adenocarcinoma sample; somatic mutation</li><li>D->N at 692: in dbSNP:rs6616890</li>									rs6616890	2
Q9UK39	25819		<li>H->Y at 140: in dbSNP:rs2271777</li>									rs2271777	2
Q9UK53	3621		<li>L->R at 125: in dbSNP:rs7338333</li><li>A->D at 335: in HNSCC, MIM: 275355</li><li>C->S at 358: in HNSCC, MIM: 275355</li><li>N->S at 359: in HNSCC, MIM: 275355</li>								Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355]	rs7338333	2
Q9UK61	23272		<li>A->G at 831: in dbSNP:rs17056999</li><li>V->I at 998: in dbSNP:rs2291498</li><li>T->R at 1046: in dbSNP:rs9835332</li><li>I->V at 1435: in dbSNP:rs2291498</li>									<li>rs9835332</li><li>rs2291498</li><li>rs17056999</li>	2
Q9UK80	27005	<ul><li>C->A at 221: Abolishes ubiquitin thiolesterase activity</li></ul>	<li>P->S at 91: in dbSNP:rs34779722</li><li>G->D at 321: in dbSNP:rs17356051</li><li>P->T at 336: in dbSNP:rs1127525</li>							<li>P69326</li><li>P08565</li><li>P69322</li><li>P69323</li><li>P69324</li><li>P69325</li><li>P68196</li><li>O46543</li><li>P68197</li><li>Q05550</li><li>P68198</li><li>P68199</li><li>P19848</li><li>P68195</li><li>P42739</li><li>Q867C2</li><li>P62991</li><li>P62990</li><li>P61863</li><li>P61864</li><li>P61862</li><li>Q867C4</li><li>Q867C3</li><li>P23398</li><li>P68204</li><li>P84589</li><li>Q865C5</li><li>P42740</li><li>P68201</li><li>Q8MKD1</li><li>P14792</li><li>P63049</li><li>P0C072</li><li>P63051</li><li>P69308</li><li>P69309</li><li>P20685</li><li>P15174</li><li>P62976</li><li>P62977</li><li>P62974</li><li>P62975</li><li>P62972</li><li>P13117</li><li>P14624</li><li>P62973</li><li>P46574</li><li>P69310</li><li>P69313</li><li>P69314</li><li>P69311</li><li>P69312</li><li>P08618</li><li>P69317</li><li>P69318</li><li>P0C014</li><li>P69315</li><li>P69316</li><li>P59263</li><li>P69319</li><li>P49634</li><li>P49635</li><li>P22589</li><li>Q9Y848</li><li>P62988</li><li>P62989</li><li>P23324</li><li>P69321</li><li>P69320</li><li>P59669</li>		<li>rs1127525</li><li>rs34779722</li><li>rs17356051</li>	3
Q9UK85	27120		<li>L->R at 24: in dbSNP:rs2303757</li><li>A->T at 29: in dbSNP:rs919364</li><li>L->I at 104: in dbSNP:rs35693137</li><li>M->R at 109: in dbSNP:rs2303759</li><li>G->S at 187: in dbSNP:rs1054770</li><li>E->K at 214: in dbSNP:rs2288481</li>									<li>rs2288481</li><li>rs2303759</li><li>rs2303757</li><li>rs35693137</li><li>rs919364</li><li>rs1054770</li>	2
Q9UK99	26273		<li>V->I at 221: in dbSNP:rs1402954</li>									rs1402954	2
Q9UKA4	11215		<li>S->C at 721: in dbSNP:rs2236364</li><li>H->R at 1070: in dbSNP:rs17063163</li><li>L->F at 1410: in dbSNP:rs17063167</li>									<li>rs17063163</li><li>rs17063167</li><li>rs2236364</li>	2
Q9UKA8	11123		<li>T->N at 236: in dbSNP:rs16829813</li>									rs16829813	2
Q9UKB3	56521		<li>M->I at 124: in dbSNP:rs35690028</li><li>C->W at 129: in dbSNP:rs36099123</li>									<li>rs35690028</li><li>rs36099123</li>	2
Q9UKC9	25827		<li>V->M at 226: in a colorectal cancer sample; somatic mutation</li>										2
Q9UKE5	23043		<li>K->E at 778: in dbSNP rsrs55778284</li><li>G->E at 910: in dbSNP rsrs35090763</li><li>A->T at 999: in dbSNP:rs17857452</li>									<li>rs17857452</li><li>rs35090763</li><li>rs55778284</li>	2
Q9UKF2	11085		<li>L->P at 359: in dbSNP:rs2641348</li>									rs2641348	2
Q9UKF5	11086		<li>P->L at 31: in a colorectal cancer sample; somatic mutation</li><li>V->I at 205: in a colorectal cancer sample; somatic mutation</li>										2
Q9UKG1	26060		<li>A->V at 108: in dbSNP:rs4381906</li><li>E->Q at 643: in a breast cancer sample; somatic mutation</li><li>E->G at 700: in dbSNP:rs11544593</li>									<li>rs4381906</li><li>rs11544593</li>	2
Q9UKG9	54677		<li>R->H at 94: in dbSNP:rs3827653</li><li>V->L at 474: in dbSNP:rs7785206</li>									<li>rs3827653</li><li>rs7785206</li>	2
Q9UKI3	29802		<li>R->W at 4: in dbSNP:rs34372784</li>									rs34372784	2
Q9UKI9	25833		<li>R->H at 152: in dbSNP:rs7110845</li>									rs7110845	2
Q9UKK3	143		<li>G->A at 1265: in dbSNP:rs1050110</li><li>G->R at 1280: in dbSNP:rs13428</li>									<li>rs13428</li><li>rs1050110</li>	2
Q9UKK9	11164		<li>I->T at 123: in dbSNP:rs34863826</li>									rs34863826	2
Q9UKL3	9994		<li>P->S at 1659: in dbSNP:rs3799896</li>									rs3799896	2
Q9UKL6	58488		<li>E->A at 10: in dbSNP:rs12941739</li>									rs12941739	2
Q9UKM9	22913		<li>V->M at 139: in dbSNP:rs35191085</li><li>Q->R at 215: in dbSNP:rs3180568</li><li>G->S at 251: in dbSNP:rs2281209</li>									<li>rs3180568</li><li>rs35191085</li><li>rs2281209</li>	2
Q9UKN1			<li>T->R at 4775: in dbSNP:rs11766125</li>									rs11766125	2
Q9UKN7	51168		<li>C->R at 1977: in dbSNP:rs854777</li><li>G->R at 2018: in dbSNP:rs2272571</li><li>N->Y at 2111: in DFNB3; family from Bengkala, MIM: 600316</li><li>I->F at 2113: in DFNB3; Indian family, MIM: 600316</li><li>T->I at 2205: associated with moderately severe sensorineural hearing loss , MIM: 600316</li><li>A->T at 2490: in dbSNP:rs16960959, MIM: 600316</li><li>Y->F at 2682: in dbSNP:rs712270, MIM: 600316</li><li>Q->H at 2716: in DFNB3, MIM: 600316</li>	hearing	GO:0007605						Non-syndromic sensorineural deafness autosomal recessive type 3 (DFNB3) [MIM:600316]	<li>rs712270</li><li>rs2272571</li><li>rs854777</li><li>rs16960959</li>	2
Q9UKN8	9329		<li>H->R at 243: in dbSNP:rs1044697</li>									rs1044697	2
Q9UKP4	11173		<li>S->P at 214: in dbSNP:rs3825807</li><li>T->M at 307: in dbSNP:rs2127898</li><li>T->A at 1319: in dbSNP:rs11630236</li><li>G->S at 1414: in dbSNP:rs2929155</li><li>G->A at 1583: in dbSNP:rs7495616</li>									<li>rs7495616</li><li>rs3825807</li><li>rs2929155</li><li>rs2127898</li><li>rs11630236</li>	2
Q9UKP6	2837		<li>A->P at 70: in dbSNP:rs34442190</li><li>S->R at 146: in a breast cancer sample; somatic mutation</li>									rs34442190	2
Q9UKQ2	10863		<li>M->V at 765: in dbSNP:rs7814768</li>									rs7814768	2
Q9UKR3	26085		<li>H->Y at 109: in dbSNP:rs34089525</li>									rs34089525	2
Q9UKR8	26526		<li>Y->D at 53: in dbSNP:rs34162761</li><li>L->P at 55: in dbSNP:rs17001344</li><li>S->C at 233: in dbSNP:rs318687</li>									<li>rs17001344</li><li>rs318687</li><li>rs34162761</li>	2
Q9UKS6	29763		<li>A->V at 61: in dbSNP:rs7106654</li>									rs7106654	2
Q9UKS7	22807		<li>N->S at 93: in dbSNP:rs16849611</li>									rs16849611	2
Q9UKT6	26223		<li>F->L at 76: in dbSNP:rs7705168</li><li>P->L at 209: in dbSNP:rs40986</li>									<li>rs40986</li><li>rs7705168</li>	2
Q9UKU7	27034		<li>M->I at 128: in IBDD, MIM: 611283</li><li>D->Y at 134: in IBDD, MIM: 611283</li><li>G->R at 137: in IBDD; complete loss of activity, MIM: 611283</li><li>M->T at 152: in IBDD, MIM: 611283</li><li>V->I at 203: in IBDD, MIM: 611283</li><li>R->Q at 302: in IBDD; complete loss of activity, MIM: 611283</li><li>A->T at 320: in IBDD; <20% of wild-type activity, MIM: 611283</li><li>R->C at 334: in IBDD, MIM: 611283</li><li>Q->R at 385: in IBDD, MIM: 611283</li>								Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]		2
Q9UKV5	267		<li>D->V at 605: in a breast cancer sample; somatic mutation</li>										2
Q9UKW4	10451		<li>T->S at 298: in dbSNP:rs7528153</li><li>P->S at 616: in dbSNP:rs12410676</li><li>Q->H at 618: in dbSNP:rs12403266</li>									<li>rs7528153</li><li>rs12403266</li><li>rs12410676</li>	2
Q9UKX2	4620		<li>E->K at 706: in IBM3, MIM: 605637</li><li>V->I at 970: in one patient with familial myopathy; unknown pathological significance, MIM: 605637</li><li>L->V at 1061, MIM: 605637</li><li>R->Q at 1927: in dbSNP:rs34161789, MIM: 605637</li>								Inclusion body myopathy type 3 (IBM3) [MIM:605637]	rs34161789	2
Q9UKX3	8735		<li>G->R at 701: in dbSNP:rs2190729</li><li>M->V at 1071: in dbSNP:rs2074877</li><li>E->D at 1076: in dbSNP:rs2074876</li><li>R->Q at 1294: in dbSNP:rs17690195</li><li>R->H at 1862: in dbSNP:rs3744550</li>									<li>rs2074876</li><li>rs3744550</li><li>rs2074877</li><li>rs17690195</li><li>rs2190729</li>	2
Q9UKX5	22801	<ul><li>R->A at 1171: No effect on RAB21-binding</li></ul>	<li>V->M at 433: in dbSNP rsrs2306022</li><li>M->L at 471: in dbSNP:rs2306024</li><li>R->L at 524: in dbSNP rsrs7168069</li><li>Q->K at 891: in dbSNP:rs2271725</li><li>L->P at 972: in dbSNP rsrs4777035</li><li>I->M at 1003</li><li>Missing at 1030</li><li>L->V at 1094</li>			binding	GO:0005488			<li>P12253</li><li>P55745</li><li>Q9UL25</li><li>Q8WQ53</li>		<li>rs4777035</li><li>rs2306022</li><li>rs7168069</li><li>rs2306024</li><li>rs2271725</li>	3
Q9UKY0	23627		<li>S->I at 6</li><li>S->P at 22</li><li>T->P at 26</li><li>H->R at 31</li><li>P->L at 56: in dbSNP rsrs35453518</li><li>F->L at 70</li><li>L->S at 149</li><li>T->M at 174: common polymorphism; dbSNP:rs2245220</li>									<li>rs35453518</li><li>rs2245220</li>	2
Q9UKY4	29954		<li>A->E at 54: in dbSNP:rs8177536</li>									rs8177536	2
Q9UKZ4	10178		<li>Y->H at 40: in dbSNP:rs36065191</li><li>L->F at 342: in a breast cancer sample; somatic mutation</li><li>M->T at 371: in dbSNP:rs2213591</li><li>M->V at 632: in dbSNP:rs16999334</li><li>K->E at 641: in dbSNP:rs6649271</li><li>V->I at 1216: in a breast cancer sample; somatic mutation</li><li>F->V at 1482: in a colorectal cancer sample; somatic mutation</li><li>Q->H at 2235: in a breast cancer sample; somatic mutation</li><li>L->F at 2396: in a colorectal cancer sample; somatic mutation</li>									<li>rs2213591</li><li>rs16999334</li><li>rs6649271</li><li>rs36065191</li>	2
Q9UKZ9	26577		<li>V->A at 280: in dbSNP:rs35692900</li><li>P->T at 292: in dbSNP:rs17554211</li>									<li>rs35692900</li><li>rs17554211</li>	2
Q9UL01	29940		<li>T->I at 25: in dbSNP:rs10485183</li><li>P->L at 34: in dbSNP:rs35548455</li><li>I->V at 282: in dbSNP:rs34994230</li>									<li>rs10485183</li><li>rs35548455</li><li>rs34994230</li>	2
Q9UL12	1757		<li>G->C at 22: in dbSNP:rs35559818</li><li>E->D at 372: in dbSNP:rs35218200</li><li>R->H at 614: in dbSNP:rs2073817</li><li>M->V at 648: in dbSNP:rs886016</li>									<li>rs35559818</li><li>rs886016</li><li>rs35218200</li><li>rs2073817</li>	2
Q9UL17	30009		<li>H->Q at 33: in dbSNP:rs2240017</li><li>I->V at 339: in dbSNP:rs12721471</li>									<li>rs12721471</li><li>rs2240017</li>	2
Q9UL19	5920		<li>V->L at 69: in dbSNP:rs35502888</li><li>A->V at 162: in dbSNP:rs35845275</li>									<li>rs35845275</li><li>rs35502888</li>	2
Q9UL42	10687		<li>E->K at 186: in dbSNP:rs2233701</li>									rs2233701	2
Q9UL49	10732		<li>E->D at 380: in dbSNP:rs34304654</li>									rs34304654	2
Q9UL58	7762		<li>M->V at 119: in dbSNP:rs11041108</li><li>M->V at 376: in dbSNP:rs2239729</li>									<li>rs11041108</li><li>rs2239729</li>	2
Q9UL59	7761		<li>L->H at 128: in dbSNP:rs1156525</li><li>I->R at 185: in dbSNP:rs2239734</li>									<li>rs1156525</li><li>rs2239734</li>	2
Q9UL62	7224		<li>R->H at 702: in dbSNP:rs36047478</li>									rs36047478	2
Q9UL63	4289		<li>C->G at 469: in dbSNP:rs323844</li>									rs323844	2
Q9ULB1	9378		<li>Y->N at 400: in dbSNP:rs17040901</li>									rs17040901	2
Q9ULB4	1007		<li>Y->C at 6: in dbSNP:rs2288467</li><li>A->V at 38: in dbSNP:rs2288466</li>									<li>rs2288466</li><li>rs2288467</li>	2
Q9ULC3	51715		<li>Missing at 13</li><li>K->R at 40: in dbSNP rsrs45442500</li><li>C->R at 85: in Carpenter syndrome, MIM: 201000</li><li>S->A at 101: in dbSNP rsrs45479896, MIM: 201000</li><li>G->S at 207: in dbSNP:rs1040461, MIM: 201000</li>								Carpenter syndrome [MIM:201000]	<li>rs45442500</li><li>rs45479896</li><li>rs1040461</li>	2
Q9ULC5	51703		<li>M->V at 182: in dbSNP:rs3736946</li><li>K->R at 388: in a colorectal cancer sample; somatic mutation</li><li>G->D at 466: in a colorectal cancer sample; somatic mutation</li><li>T->A at 486: in dbSNP:rs12254915</li>									<li>rs3736946</li><li>rs12254915</li>	2
Q9ULC6	29943		<li>V->M at 649: in dbSNP:rs16824215</li>									rs16824215	2
Q9ULD0	55753		<li>P->L at 511: in dbSNP:rs17856755</li><li>D->N at 573: in dbSNP:rs17852386</li><li>S->C at 623: in dbSNP:rs34877195</li><li>T->M at 637: in dbSNP:rs11101224</li><li>N->S at 725: in dbSNP:rs2293239</li>									<li>rs34877195</li><li>rs17856755</li><li>rs2293239</li><li>rs17852386</li><li>rs11101224</li>	2
Q9ULD2	57509		<li>Q->K at 75: in HCC, MIM: 114550</li><li>C->R at 148: in dbSNP:rs3739407, MIM: 114550</li><li>T->S at 186: in HNSCC cell lines, MIM: 114550</li><li>T->M at 425, MIM: 114550</li><li>K->T at 453: in dbSNP:rs17690844, MIM: 114550</li><li>A->S at 563: in HCC, MIM: 114550</li><li>H->R at 575: in dbSNP:rs209569, MIM: 114550</li><li>N->H at 873: in HCC, MIM: 114550</li><li>K->T at 911, MIM: 114550</li><li>K->T at 1063: in dbSNP:rs17853231, MIM: 114550</li><li>E->Q at 1105, MIM: 114550</li><li>Q->R at 1201: in HCC, MIM: 114550</li>							<li>Q8T115</li><li>Q9NFL6</li>	Hepatocellular carcinoma (HCC) [MIM:114550]	<li>rs3739407</li><li>rs17853231</li><li>rs17690844</li><li>rs209569</li>	2
Q9ULD4	27154		<li>A->G at 278: in dbSNP:rs17658935</li>									rs17658935	2
Q9ULD9	57507		<li>N->T at 721: in dbSNP:rs6862252</li>									rs6862252	2
Q9ULE0	55841		<li>A->T at 495: in dbSNP:rs5934750</li><li>Y->C at 593: in dbSNP:rs36076296</li>									<li>rs36076296</li><li>rs5934750</li>	2
Q9ULE3	27147		<li>H->P at 156: in dbSNP:rs269243</li><li>E->K at 729: in dbSNP:rs2293177</li><li>I->T at 777: in dbSNP:rs6464833</li>									<li>rs2293177</li><li>rs269243</li><li>rs6464833</li>	2
Q9ULE4			<li>N->S at 952: in dbSNP:rs16895365</li><li>A->V at 1042: in dbSNP:rs6825562</li>									<li>rs16895365</li><li>rs6825562</li>	2
Q9ULE6	27143		<li>S->L at 141: in dbSNP:rs2275060</li><li>R->C at 721: in dbSNP:rs3740447</li>									<li>rs2275060</li><li>rs3740447</li>	2
Q9ULF5	57181		<li>T->S at 87: in dbSNP:rs13419724</li>									rs13419724	2
Q9ULG1	54617		<li>I->V at 882: in dbSNP:rs34153025</li>									rs34153025	2
Q9ULG6	9236		<li>S->P at 44: in dbSNP:rs11555304</li><li>E->V at 161: in dbSNP:rs17853336</li><li>Y->H at 418: in dbSNP:rs34958422</li><li>R->L at 436: in dbSNP:rs17857026</li><li>A->V at 477: in dbSNP:rs1063562</li><li>A->D at 517: in dbSNP:rs1063563</li><li>G->D at 553: in dbSNP:rs1063565</li><li>G->S at 553: in dbSNP:rs1063564</li><li>N->K at 590: in dbSNP:rs1063566</li><li>K->E at 627: in dbSNP:rs17853335</li><li>T->I at 646: in dbSNP:rs17857027</li><li>H->R at 673: in dbSNP:rs1063567</li>									<li>rs17857026</li><li>rs17857027</li><li>rs1063564</li><li>rs1063565</li><li>rs1063562</li><li>rs1063563</li><li>rs34958422</li><li>rs17853335</li><li>rs1063566</li><li>rs1063567</li><li>rs17853336</li><li>rs11555304</li>	2
Q9ULH0	57498		<li>I->T at 538: in dbSNP:rs2289229</li><li>R->H at 1307: in dbSNP:rs2304591</li><li>Q->H at 1608: in dbSNP:rs1044280</li>									<li>rs1044280</li><li>rs2289229</li><li>rs2304591</li>	2
Q9ULH4	57497		<li>D->N at 770: in dbSNP:rs3734559</li>									rs3734559	2
Q9ULI1	57495		<li>L->M at 569: in dbSNP:rs4634233</li>									rs4634233	2
Q9ULI3	57493		<li>Q->R at 145: in dbSNP:rs4404487</li><li>F->S at 602: in dbSNP:rs6790837</li><li>V->L at 980: in dbSNP:rs10804567</li><li>M->T at 1039: in dbSNP:rs6438869</li>									<li>rs6438869</li><li>rs10804567</li><li>rs4404487</li><li>rs6790837</li>	2
Q9ULJ1	57489		<li>R->H at 177: in dbSNP:rs12032435</li><li>K->R at 350: in dbSNP:rs17854440</li>									<li>rs17854440</li><li>rs12032435</li>	2
Q9ULJ3	49854		<li>N->S at 185: in dbSNP:rs871545</li><li>K->Q at 218: in dbSNP:rs871546</li>									<li>rs871545</li><li>rs871546</li>	2
Q9ULJ6	57178		<li>L->V at 551: in a breast cancer sample; somatic mutation</li>										2
Q9ULJ8	55607		<li>M->V at 331: in dbSNP:rs10230714</li>									rs10230714	2
Q9ULK0	2894		<li>V->I at 529: in dbSNP:rs2306265</li>									rs2306265	2
Q9ULL1	57480		<li>Q->R at 787: in dbSNP:rs17080381</li><li>V->A at 1071: in dbSNP:rs17080410</li><li>L->S at 1321: in dbSNP:rs17054318</li>									<li>rs17054318</li><li>rs17080410</li><li>rs17080381</li>	2
Q9ULL4	5365		<li>A->T at 126: in dbSNP:rs34360382</li><li>V->I at 598: in dbSNP:rs2266879</li><li>M->T at 1535: in dbSNP:rs5987155</li>									<li>rs2266879</li><li>rs34360382</li><li>rs5987155</li>	2
Q9ULL8	57477		<li>D->G at 970: in dbSNP:rs2281571</li><li>S->L at 1089: in SDSX, MIM: 300434</li>								Stocco dos Santos X-linked mental retardation syndrome (SDSX) [MIM:300434]	rs2281571	2
Q9ULM0	57475		<li>N->S at 75: in dbSNP:rs7150973</li><li>Q->L at 113: in dbSNP:rs3825723</li><li>R->Q at 322: in dbSNP:rs2236235</li><li>T->A at 430: in dbSNP:rs3825725</li><li>M->V at 438: in dbSNP:rs17104428</li><li>H->R at 735: in dbSNP:rs11158685</li>									<li>rs11158685</li><li>rs7150973</li><li>rs17104428</li><li>rs3825725</li><li>rs3825723</li><li>rs2236235</li>	2
Q9ULM3	55689		<li>I->V at 184: in dbSNP:rs16858033</li><li>V->I at 530: in dbSNP:rs262993</li><li>Q->H at 993: in dbSNP:rs3211095</li>									<li>rs16858033</li><li>rs3211095</li><li>rs262993</li>	2
Q9ULQ0	57464		<li>R->Q at 383: in dbSNP:rs2242030</li>									rs2242030	2
Q9ULT0	57217		<li>V->L at 538: in dbSNP:rs2304290</li><li>V->I at 545: in dbSNP:rs6755258</li>									<li>rs6755258</li><li>rs2304290</li>	2
Q9ULV1	8322		<li>M->V at 105: in EVR1; loss of function, MIM: 133780</li><li>M->V at 157: in EVR1; loss of function, MIM: 133780</li><li>K->T at 436: in a colorectal cancer sample; somatic mutation, MIM: 133780</li><li>Missing  at 493-494: in EVR1; loss of function, MIM: 133780</li>								Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]		2
Q9ULV5	3299	<ul><li>K->R at 294: Abolishes sumoylation. 10-fold increased in transactivational activity</li><li>S->A at 299: Abolishes phosphorylation. Greatly reduced sumoylation. Greatly increased transactivationalc activity</li></ul>	<li>A->D at 20: in lamellar cataract; sporadic, MIM: 116800</li><li>R->H at 74: in lammelar cataract, MIM: 116800</li><li>I->V at 87: in lamellar cataract; sporadic, MIM: 116800</li><li>L->P at 115: in lammelar cataract, MIM: 116800</li><li>R->C at 120: in lammelar cataract, MIM: 116800</li>	<li>phosphorylation</li><li>sumoylation</li>	<li>GO:0016310</li><li>GO:0016925</li>						Lamellar cataract [MIM:116800]		3
Q9ULV8	23624		<li>H->Y at 405: in dbSNP:rs3208856</li>									rs3208856	2
Q9ULW0	22974		<li>T->N at 464: in a colorectal cancer sample; somatic mutation</li>										2
Q9ULW8	51702		<li>I->V at 52: in dbSNP:rs3750300</li><li>V->M at 171: in dbSNP:rs2272629</li><li>G->R at 509: in a breast cancer sample; somatic mutation</li><li>A->T at 582: in dbSNP:rs34097903</li><li>R->Q at 618: in dbSNP:rs35624745</li>									<li>rs34097903</li><li>rs3750300</li><li>rs2272629</li><li>rs35624745</li>	2
Q9ULX3	28987		<li>R->Q at 231: in dbSNP:rs3811348</li><li>Y->F at 366: in dbSNP:rs1075935</li>									<li>rs1075935</li><li>rs3811348</li>	2
Q9UM01	9056		<li>T->I at 5: in LPI, MIM: 222700</li><li>Missing  at 36: in LPI; failed to induce cationic amino acid transport activity, MIM: 222700</li><li>M->K at 50: in LPI; failed to induce cationic amino acid transport activity, MIM: 222700</li><li>S->L at 53: in LPI, MIM: 222700</li><li>G->V at 54: in LPI; failed to induce cationic amino acid transport activity, MIM: 222700</li><li>A->V at 91: in dbSNP:rs11568438, MIM: 222700</li><li>L->P at 124: in LPI, MIM: 222700</li><li>A->P at 140: in LPI, MIM: 222700</li><li>F->L at 152: in LPI; moderately reduced cationic amino acid transport activity, MIM: 222700</li><li>R->C at 159: in dbSNP:rs11568437, MIM: 222700</li><li>T->I at 188: in LPI; failed to induce cationic amino acid transport activity, MIM: 222700</li><li>K->E at 191: in LPI, MIM: 222700</li><li>S->F at 238: in LPI, MIM: 222700</li><li>E->D at 251: in LPI, MIM: 222700</li><li>L->P at 261: in LPI, MIM: 222700</li><li>R->M at 333: in LPI, MIM: 222700</li><li>L->R at 334: in LPI; failed to induce cationic amino acid transport activity, MIM: 222700</li><li>G->D at 338: in LPI, MIM: 222700</li><li>N->Y at 365: in LPI, MIM: 222700</li><li>S->R at 386: in LPI; failed to induce cationic amino acid transport activity, MIM: 222700</li><li>P->S at 413: in a breast cancer sample; somatic mutation, MIM: 222700</li><li>S->P at 489: in LPI, MIM: 222700</li>	amino acid transport	GO:0006865						Lysinuric protein intolerance (LPI) [MIM:222700]	<li>rs11568437</li><li>rs11568438</li>	2
Q9UM13	10393		<li>R->Q at 46: in dbSNP rsrs35257136</li>									rs35257136	2
Q9UM44	11148		<li>I->T at 30: in dbSNP:rs6779254</li><li>N->K at 344: in dbSNP:rs3792332</li><li>S->R at 364: in dbSNP:rs6779094</li>									<li>rs6779254</li><li>rs3792332</li><li>rs6779094</li>	2
Q9UM47	4854		<li>C->G at 43: in CADASIL, MIM: 125310</li><li>C->F at 49: in CADASIL, MIM: 125310</li><li>C->Y at 49: in CADASIL, MIM: 125310</li><li>R->C at 54: in CADASIL, MIM: 125310</li><li>S->C at 60: in CADASIL, MIM: 125310</li><li>C->S at 65: in CADASIL, MIM: 125310</li><li>C->Y at 67: in CADASIL, MIM: 125310</li><li>W->C at 71: in CADASIL: in dbSNP rsrs28937321, MIM: 125310</li><li>C->R at 76: in CADASIL, MIM: 125310</li><li>C->W at 76: in CADASIL, MIM: 125310</li><li>Missing  at 77-82: in CADASIL, MIM: 125310</li><li>Missing  at 80-84: in CADASIL, MIM: 125310</li><li>C->R at 87: in CADASIL, MIM: 125310</li><li>C->Y at 87: in CADASIL, MIM: 125310</li><li>R->C at 90: in CADASIL, MIM: 125310</li><li>C->F at 93: in CADASIL, MIM: 125310</li><li>C->Y at 93: in CADASIL, MIM: 125310</li><li>C->W at 106: in CADASIL, MIM: 125310</li><li>C->W at 108: in CADASIL, MIM: 125310</li><li>C->Y at 108: in CADASIL, MIM: 125310</li><li>R->C at 110: in CADASIL, MIM: 125310</li><li>Missing  at 114-120: in CADASIL, MIM: 125310</li><li>C->F at 117: in CADASIL, MIM: 125310</li><li>S->C at 118: in CADASIL, MIM: 125310</li><li>C->F at 123: in CADASIL, MIM: 125310</li><li>C->Y at 123: in CADASIL, MIM: 125310</li><li>C->Y at 128: in CADASIL, MIM: 125310</li><li>R->C at 133: in CADASIL, MIM: 125310</li><li>C->W at 134: in CADASIL, MIM: 125310</li><li>R->C at 141: in CADASIL, MIM: 125310</li><li>F->C at 142: in CADASIL, MIM: 125310</li><li>C->F at 144: in CADASIL, MIM: 125310</li><li>C->S at 144: in CADASIL, MIM: 125310</li><li>C->Y at 144: in CADASIL, MIM: 125310</li><li>S->C at 145: in CADASIL, MIM: 125310</li><li>C->R at 146: in CADASIL, MIM: 125310</li><li>G->C at 149: in CADASIL, MIM: 125310</li><li>Y->C at 150: in CADASIL, MIM: 125310</li><li>Missing  at 153-155: in CADASIL, MIM: 125310</li><li>R->C at 153: in CADASIL, MIM: 125310</li><li>C->S at 155: in CADASIL, MIM: 125310</li><li>C->S at 162: in CADASIL, MIM: 125310</li><li>R->C at 169: in CADASIL: in dbSNP rsrs28933696, MIM: 125310</li><li>H->R at 170, MIM: 125310</li><li>G->C at 171: in CADASIL, MIM: 125310</li><li>C->F at 174: in CADASIL, MIM: 125310</li><li>C->R at 174: in CADASIL, MIM: 125310</li><li>C->Y at 174: in CADASIL, MIM: 125310</li><li>S->C at 180: in CADASIL, MIM: 125310</li><li>R->C at 182: in CADASIL: in dbSNP rsrs28933697, MIM: 125310</li><li>C->F at 183: in CADASIL, MIM: 125310</li><li>C->R at 183: in CADASIL, MIM: 125310</li><li>C->S at 183: in CADASIL, MIM: 125310</li><li>C->G at 185: in CADASIL, MIM: 125310</li><li>C->R at 185: in CADASIL, MIM: 125310</li><li>Y->C at 189: in CADASIL, MIM: 125310</li><li>C->F at 194: in CADASIL, MIM: 125310</li><li>C->R at 194: in CADASIL, MIM: 125310</li><li>C->S at 194: in CADASIL, MIM: 125310</li><li>C->Y at 194: in CADASIL, MIM: 125310</li><li>C->Y at 201: in CADASIL, MIM: 125310</li><li>C->Y at 206: in CADASIL, MIM: 125310</li><li>R->C at 207: in CADASIL, MIM: 125310</li><li>C->S at 212: in CADASIL, MIM: 125310</li><li>R->K at 213: in CADASIL, MIM: 125310</li><li>C->G at 222: in CADASIL, MIM: 125310</li><li>C->Y at 222: in CADASIL, MIM: 125310</li><li>C->Y at 224: in CADASIL, MIM: 125310</li><li>C->S at 233: in CADASIL, MIM: 125310</li><li>C->Y at 233: in CADASIL, MIM: 125310</li><li>Missing  at 239-253: in CADASIL, MIM: 125310</li><li>C->S at 240: in CADASIL, MIM: 125310</li><li>C->R at 245: in CADASIL, MIM: 125310</li><li>C->R at 251: in CADASIL, MIM: 125310</li><li>Y->C at 258: in CADASIL, MIM: 125310</li><li>C->Y at 260: in CADASIL, MIM: 125310</li><li>A->C at 319: in CADASIL; requires 2 nucleotide substitutions, MIM: 125310</li><li>R->C at 332: in CADASIL, MIM: 125310</li><li>S->C at 335: in CADASIL, MIM: 125310</li><li>Y->C at 337: in CADASIL, MIM: 125310</li><li>C->S at 379: in CADASIL, MIM: 125310</li><li>C->R at 395: in CADASIL, MIM: 125310</li><li>G->C at 420: in CADASIL, MIM: 125310</li><li>R->C at 421: in CADASIL, MIM: 125310</li><li>C->S at 428: in CADASIL, MIM: 125310</li><li>C->Y at 428: in CADASIL, MIM: 125310</li><li>C->G at 440: in CADASIL, MIM: 125310</li><li>C->R at 440: in CADASIL, MIM: 125310</li><li>C->S at 446: in CADASIL, MIM: 125310</li><li>R->C at 449: in CADASIL, MIM: 125310</li><li>C->R at 455: in CADASIL: in dbSNP rsrs28933698, MIM: 125310</li><li>C->F at 484: in CADASIL, MIM: 125310</li><li>C->Y at 484: in CADASIL, MIM: 125310</li><li>C->Y at 495: in CADASIL, MIM: 125310</li><li>P->L at 496: in dbSNP:rs11670799, MIM: 125310</li><li>C->R at 511: in CADASIL, MIM: 125310</li><li>C->Y at 542: in CADASIL, MIM: 125310</li><li>R->C at 544: in CADASIL, MIM: 125310</li><li>C->Y at 549: in CADASIL, MIM: 125310</li><li>R->C at 558: in CADASIL, MIM: 125310</li><li>R->C at 578: in CADASIL, MIM: 125310</li><li>R->C at 607: in CADASIL, MIM: 125310</li><li>R->C at 728: in CADASIL, MIM: 125310</li><li>C->S at 775: in CADASIL, MIM: 125310</li><li>G->C at 953: in CADASIL, MIM: 125310</li><li>F->C at 984: in CADASIL, MIM: 125310</li><li>R->C at 985: in CADASIL, MIM: 125310</li><li>R->C at 1006: in CADASIL, MIM: 125310</li><li>C->R at 1015: in CADASIL, MIM: 125310</li><li>A->P at 1020: in dbSNP:rs35769976, MIM: 125310</li><li>Y->C at 1021: in CADASIL, MIM: 125310</li><li>R->C at 1031: in CADASIL, MIM: 125310</li><li>D->C at 1063: in CADASIL; requires 2 nucleotide substitutions, MIM: 125310</li><li>H->Q at 1133, MIM: 125310</li><li>V->M at 1183: in dbSNP:rs10408676, MIM: 125310</li><li>R->C at 1231: in CADASIL, MIM: 125310</li><li>C->R at 1261: in CADASIL, MIM: 125310</li><li>C->Y at 1261: in CADASIL, MIM: 125310</li><li>L->P at 1515: in brain small-vessel-disease; exhibits increased NOTCH3 signaling in a ligand-independent fashion, MIM: 125310</li><li>V->A at 2223: in dbSNP:rs1044009, MIM: 125310</li>							Q9UM47	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	<li>rs28933696</li><li>rs1044009</li><li>rs28933698</li><li>rs28933697</li><li>rs10408676</li><li>rs28937321</li><li>rs11670799</li><li>rs35769976</li>	2
Q9UM54	4646		<li>E->V at 216: in DFNB37: in dbSNP rsrs28936390, MIM: 607821</li><li>H->R at 246: in DFNHCM: in dbSNP rsrs28936391, MIM: 606346</li><li>C->Y at 442: in DFNA22, MIM: 606346</li>								<li>Non-syndromic sensorineural deafness autosomal recessive type 37 (DFNB37) [MIM:607821]</li><li>Sensorineural deafness with hypertrophic cardiomyopathy (DFNHCM) [MIM:606346]</li><li>Non-syndromic sensorineural deafness autosomal dominant type 22 (DFNA22) [MIM:606346]</li>	<li>rs28936391</li><li>rs28936390</li>	2
Q9UM63	5325		<li>A->V at 272: in dbSNP:rs35263016</li>									rs35263016	2
Q9UM73	238		<li>S->L at 90: in dbSNP rsrs34617074</li><li>V->L at 163: in dbSNP rsrs55697431</li><li>E->Q at 296: in dbSNP rsrs56077855</li><li>V->A at 476: in dbSNP rsrs35093491</li><li>L->F at 560: in a breast pleomorphic lobular carcinoma sample; somatic mutation</li><li>T->I at 680: in dbSNP rsrs35228363</li><li>A->T at 704: in dbSNP rsrs34829159</li><li>A->S at 877: in an ovarian serous carcinoma sample; somatic mutation</li><li>T->M at 1012: in dbSNP rsrs35073634</li><li>G->D at 1121: in dbSNP rsrs55760835</li><li>A->T at 1274: in dbSNP rsrs45502292</li><li>M->L at 1328: in dbSNP rsrs56160491</li><li>K->N at 1416: in dbSNP rsrs55782189</li><li>E->K at 1419: in dbSNP rsrs56181542</li><li>Q->R at 1429: in dbSNP rsrs55906201</li><li>V->I at 1461: in dbSNP:rs1670283</li><li>K->R at 1491: in dbSNP:rs1881420</li><li>D->E at 1529: in dbSNP:rs1881421</li>									<li>rs55760835</li><li>rs56077855</li><li>rs1881420</li><li>rs1670283</li><li>rs34829159</li><li>rs35073634</li><li>rs1881421</li><li>rs55906201</li><li>rs35093491</li><li>rs34617074</li><li>rs35228363</li><li>rs45502292</li><li>rs55697431</li><li>rs56181542</li><li>rs56160491</li><li>rs55782189</li>	2
Q9UM82	9825		<li>L->F at 443: in dbSNP:rs2072985</li>									rs2072985	2
Q9UMD9	1308		<li>T->A at 4: in dbSNP:rs17116471</li><li>T->M at 210: in dbSNP:rs805708</li><li>M->I at 231: in dbSNP:rs1054113</li><li>M->T at 238</li><li>S->C at 265: in GABEB, MIM: 226650</li><li>G->S at 428: in dbSNP:rs805698, MIM: 226650</li><li>G->V at 627: in GABEB, MIM: 226650</li><li>G->D at 633: in GABEB, MIM: 226650</li><li>M->V at 703: in dbSNP:rs805722, MIM: 226650</li><li>R->Q at 1303: in GABEB, MIM: 226650</li><li>D->G at 1370: in dbSNP:rs17116350, MIM: 226650</li>								Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]	<li>rs17116471</li><li>rs1054113</li><li>rs805722</li><li>rs805708</li><li>rs17116350</li><li>rs805698</li>	2
Q9UMF0	7087		<li>L->V at 140: in a breast cancer sample; somatic mutation</li><li>R->W at 188: in a breast cancer sample; somatic mutation</li><li>E->Q at 488: in a breast cancer sample; somatic mutation</li>										2
Q9UMN6	9757		<li>P->R at 587: in dbSNP:rs2242519</li><li>P->L at 754: in dbSNP:rs179686</li><li>P->L at 1097: in dbSNP:rs34014681</li><li>P->L at 1829: in dbSNP:rs16970649</li><li>D->G at 2364: in dbSNP:rs231591</li><li>K->N at 2408: in dbSNP:rs36062432</li>									<li>rs16970649</li><li>rs2242519</li><li>rs36062432</li><li>rs179686</li><li>rs34014681</li><li>rs231591</li>	2
Q9UMQ6	11131		<li>V->M at 266: in dbSNP:rs6938938</li><li>V->A at 441: in dbSNP:rs16871612</li><li>I->V at 521: in dbSNP:rs34710081</li><li>S->R at 544: in dbSNP:rs35527493</li><li>S->N at 728: in dbSNP:rs7761137</li>									<li>rs6938938</li><li>rs34710081</li><li>rs16871612</li><li>rs7761137</li><li>rs35527493</li>	2
Q9UMR3	57057		<li>I->M at 152: in ASD4, MIM: 611363</li>								Atrial septal defect type 4 (ASD4) [MIM:611363]		2
Q9UMR7	50856		<li>H->L at 36: in dbSNP:rs2024301</li>									rs2024301	2
Q9UMS0	27247		<li>M->K at 25: in dbSNP:rs4453725</li>									rs4453725	2
Q9UMS6	171024		<li>T->A at 573: in dbSNP:rs7698598</li>									rs7698598	2
Q9UMW8	11274		<li>T->M at 169: in dbSNP:rs3180408</li>									rs3180408	2
Q9UMX6	2979		<li>E->D at 155</li>										2
Q9UMX9	51151		<li>P->A at 58: in OCA4, MIM: 606574</li><li>P->S at 58: in OCA4, MIM: 606574</li><li>D->N at 157: in OCA4, MIM: 606574</li><li>G->V at 188: in OCA4, MIM: 606574</li><li>W->C at 202: in OCA4, MIM: 606574</li><li>Missing  at 221: in OCA4, MIM: 606574</li><li>E->K at 272: associated with SHEP5; significantly associated with dark hair, skin and eye color in Caucasians; dbSNP:rs26722, MIM: 606574</li><li>Y->C at 317: in OCA4, MIM: 606574</li><li>L->P at 361: in OCA4: in dbSNP rsrs28939380, MIM: 606574</li><li>L->F at 374: common polymorphism; associated with SHEP5; significantly associated with dark hair, skin and eye color in Caucasians; dbSNP:rs16891982, MIM: 606574</li><li>A->T at 477: in OCA4, MIM: 606574</li><li>A->V at 486: in OCA4, MIM: 606574</li><li>T->P at 500: in dbSNP rsrs11568737, MIM: 606574</li><li>V->L at 507: in dbSNP rsrs3733808, MIM: 606574</li>								Oculocutaneous albinism type 4 (OCA4) [MIM:606574]	<li>rs28939380</li><li>rs26722</li><li>rs3733808</li><li>rs16891982</li><li>rs11568737</li>	2
Q9UMZ2	11276		<li>A->G at 40: in dbSNP:rs12944821</li><li>T->A at 222: in dbSNP:rs12602536</li>									<li>rs12944821</li><li>rs12602536</li>	2
Q9UMZ3			<li>T->I at 1040: in dbSNP:rs12316867</li><li>F->L at 1098: in dbSNP:rs6539524</li><li>A->P at 1120: in dbSNP:rs7975340</li><li>N->D at 1244: in dbSNP:rs17713202</li><li>I->T at 1734: in dbSNP:rs7963963</li><li>R->K at 2121: in dbSNP:rs1163042</li>									<li>rs12316867</li><li>rs7963963</li><li>rs17713202</li><li>rs6539524</li><li>rs7975340</li><li>rs1163042</li>	2
Q9UN36	57447		<li>T->S at 45: in dbSNP:rs36007455</li><li>G->V at 48: in dbSNP:rs11552412</li>									<li>rs36007455</li><li>rs11552412</li>	2
Q9UN66	56128		<li>K->N at 199: in dbSNP:rs2950845</li><li>E->Q at 244: in dbSNP:rs2950844</li><li>K->E at 305: in dbSNP:rs3733694</li><li>A->V at 322: in dbSNP:rs7700833</li><li>F->L at 767: in dbSNP:rs2740583</li>									<li>rs7700833</li><li>rs2950845</li><li>rs2950844</li><li>rs3733694</li><li>rs2740583</li>	2
Q9UN72	56141		<li>R->K at 138: in dbSNP:rs10067182</li><li>A->G at 663: in dbSNP:rs6880234</li>									<li>rs10067182</li><li>rs6880234</li>	2
Q9UN74	56144		<li>P->S at 184: in dbSNP:rs3822346</li>									rs3822346	2
Q9UN86	9908		<li>P->L at 434: in a breast cancer sample; somatic mutation</li>										2
Q9UN88	55879		<li>L->I at 15: in dbSNP:rs4996045</li><li>F->I at 478: in dbSNP:rs3810651</li>									<li>rs4996045</li><li>rs3810651</li>	2
Q9UNA0			<li>A->G at 138: in dbSNP:rs457947</li><li>R->H at 614: in dbSNP:rs2830585</li><li>P->L at 692: in dbSNP:rs226794</li>									<li>rs2830585</li><li>rs226794</li><li>rs457947</li>	2
Q9UNA1	23092		<li>N->S at 417: in JMML, MIM: 607785</li>								Juvenile myelomonocytic leukemia (JMML) [MIM:607785]		2
Q9UNA3	51146		<li>A->D at 218: in dbSNP:rs2246945</li>									rs2246945	2
Q9UNA4	11201		<li>R->G at 71: in dbSNP:rs3218778</li><li>I->M at 236: in dbSNP:rs3218784</li><li>E->K at 251: in dbSNP:rs3218783</li><li>H->R at 449: in dbSNP:rs3730823</li><li>F->S at 507: in dbSNP:rs3218786</li><li>C->R at 535: in dbSNP:rs3218787</li><li>T->A at 706: in dbSNP:rs8305</li>									<li>rs8305</li><li>rs3730823</li><li>rs3218783</li><li>rs3218787</li><li>rs3218778</li><li>rs3218786</li><li>rs3218784</li>	2
Q9UND3	9284		<li>R->C at 93: in dbSNP:rs1136474</li>									rs1136474	2
Q9UNF0	11252		<li>N->S at 175: in dbSNP:rs35383004</li><li>M->I at 294: in dbSNP:rs2746984</li><li>V->F at 324: in dbSNP:rs1062913</li>									<li>rs2746984</li><li>rs35383004</li><li>rs1062913</li>	2
Q9UNF1	10916		<li>E->D at 187: in dbSNP:rs12014977</li><li>Q->R at 266</li><li>K->Q at 458: in a breast cancer sample; somatic mutation</li>									rs12014977	2
Q9UNI1	1990		<li>Q->H at 10: in dbSNP:rs17860287</li><li>R->W at 44: in dbSNP:rs17860299</li><li>M->V at 59: in dbSNP:rs17860300</li><li>G->A at 76: in a breast cancer sample; somatic mutation</li><li>Q->R at 243: in dbSNP:rs17860364</li>									<li>rs17860299</li><li>rs17860364</li><li>rs17860300</li><li>rs17860287</li>	2
Q9UNI6	11266		<li>A->E at 51: in dbSNP:rs35106830</li>									rs35106830	2
Q9UNK4	26279		<li>S->G at 80: in dbSNP:rs584367</li>									rs584367	2
Q9UNM6	5719		<li>S->N at 13: in dbSNP:rs1045288</li><li>G->E at 204: in dbSNP:rs1794108</li><li>L->F at 205: in dbSNP:rs1794109</li>									<li>rs1794108</li><li>rs1045288</li><li>rs1794109</li>	2
Q9UNN8	10544		<li>S->G at 219: in dbSNP:rs867186</li>									rs867186	2
Q9UNP4	8869		<li>H->R at 104: in dbSNP:rs3731824</li>									rs3731824	2
Q9UNS1	8914		<li>A->S at 129</li><li>A->D at 429: in a breast cancer sample; somatic mutation</li><li>L->I at 455: in dbSNP:rs774027</li><li>N->S at 471</li><li>Q->R at 831: in dbSNP:rs774047</li><li>M->V at 870</li><li>R->H at 922</li><li>R->W at 924</li><li>Q->E at 1008: in a breast cancer sample; somatic mutation</li><li>I->T at 1017: in dbSNP rsrs61376834</li><li>P->L at 1018: in dbSNP:rs2291739</li>									<li>rs2291739</li><li>rs774047</li><li>rs774027</li><li>rs61376834</li>	2
Q9UNU6			<li>P->S at 88: in dbSNP:rs9865715</li><li>R->H at 234</li><li>K->R at 238: in dbSNP:rs35764459</li><li>L->F at 357: in dbSNP:rs35637877</li>									<li>rs35637877</li><li>rs35764459</li><li>rs9865715</li>	2
Q9UNX4	10885		<li>P->A at 234: in dbSNP:rs3738420</li>									rs3738420	2
Q9UNX9	3770		<li>R->C at 289: in dbSNP:rs3745725</li>									rs3745725	2
Q9UNY4	8458		<li>K->E at 167: in dbSNP:rs998532</li><li>K->R at 213: in dbSNP:rs7535524</li>									<li>rs998532</li><li>rs7535524</li>	2
Q9UNY5	7775		<li>A->V at 123: in a colorectal cancer sample; somatic mutation</li>										2
Q9UNZ2	55968		<li>D->N at 290: in dbSNP:rs9575</li>									rs9575	2
Q9UNZ5	28974		<li>K->R at 39: in dbSNP:rs10104</li>									rs10104	2
Q9UP38	8321		<li>V->M at 343: in dbSNP:rs3750146</li>									rs3750146	2
Q9UP52	7036		<li>V->I at 22: in HFE3, MIM: 604250</li><li>M->K at 172: in HFE3, MIM: 604250</li><li>D->E at 230: in dbSNP:rs41303465, MIM: 604250</li><li>I->M at 238: in dbSNP:rs34242818, MIM: 604250</li><li>R->Q at 455: hereditary hemochromatosis modifier; dbSNP:rs41303501, MIM: 604250</li><li>Q->P at 690: in HFE3, MIM: 604250</li><li>R->H at 752: in dbSNP:rs41295942, MIM: 604250</li>								Hereditary hemochromatosis type 3 (HFE3) [MIM:604250]	<li>rs41303501</li><li>rs41295942</li><li>rs41303465</li><li>rs34242818</li>	2
Q9UP83	10466		<li>L->F at 330: in dbSNP:rs2269970</li><li>I->V at 365: in dbSNP:rs34087251</li><li>P->S at 558</li>									<li>rs34087251</li><li>rs2269970</li>	2
Q9UPE1			<li>R->C at 101</li><li>G->E at 114</li><li>E->K at 233</li>										2
Q9UPI3	55640		<li>V->A at 16: in dbSNP:rs2287015</li><li>A->T at 481: in dbSNP:rs35126362</li>									<li>rs2287015</li><li>rs35126362</li>	2
Q9UPM8	23431		<li>C->R at 163: in dbSNP:rs2306331</li>									rs2306331	2
Q9UPN3	23499		<li>E->V at 302: in a breast cancer sample; somatic mutation</li><li>M->V at 2290: in dbSNP:rs2296172</li><li>K->R at 4243: in dbSNP:rs682351</li><li>A->T at 4350: in dbSNP:rs587404</li><li>E->Q at 4504: in a breast cancer sample; somatic mutation</li><li>S->T at 4670: in dbSNP:rs668556</li><li>T->I at 4794: in dbSNP:rs2296174</li><li>I->V at 4897: in dbSNP:rs12068423</li><li>G->E at 5135: in a breast cancer sample; somatic mutation</li>									<li>rs12068423</li><li>rs682351</li><li>rs587404</li><li>rs2296172</li><li>rs2296174</li><li>rs668556</li>	2
Q9UPN6	22828		<li>S->N at 865: in dbSNP:rs34802160</li>									rs34802160	2
Q9UPQ0	22998		<li>T->M at 759: in dbSNP:rs11734372</li>									rs11734372	2
Q9UPQ7	23024		<li>V->A at 703: in dbSNP:rs3205537</li><li>A->V at 783: in dbSNP:rs3205537</li>									rs3205537	2
Q9UPQ9	23112		<li>S->C at 517: in dbSNP:rs17001767</li>									rs17001767	2
Q9UPR0	23228		<li>Q->R at 211: in dbSNP:rs17853614</li><li>V->M at 635: in dbSNP:rs17857109</li><li>A->V at 742: in dbSNP:rs17857110</li><li>P->H at 809: in dbSNP:rs17853612</li><li>H->R at 890: in dbSNP:rs17853613</li>									<li>rs17857109</li><li>rs17853614</li><li>rs17853612</li><li>rs17853613</li><li>rs17857110</li>	2
Q9UPR5	6543		<li>V->L at 429: in dbSNP:rs17759929</li>									rs17759929	2
Q9UPR6	23217		<li>S->L at 164: in dbSNP:rs2240235</li><li>M->V at 183: in dbSNP:rs2240234</li><li>V->L at 210: in dbSNP:rs2240233</li><li>P->L at 235: in dbSNP:rs2240232</li><li>A->T at 577: in dbSNP:rs2301843</li><li>D->N at 589: in dbSNP:rs2301839</li>									<li>rs2240235</li><li>rs2240234</li><li>rs2301839</li><li>rs2240233</li><li>rs2240232</li><li>rs2301843</li>	2
Q9UPS8	22852		<li>Q->R at 20: in dbSNP:rs7897309</li><li>V->I at 1304: in dbSNP:rs10829163</li><li>F->L at 1513: in dbSNP:rs2274741</li>									<li>rs2274741</li><li>rs7897309</li><li>rs10829163</li>	2
Q9UPT6	23162		<li>T->A at 753: in dbSNP:rs2294619</li>									rs2294619	2
Q9UPT8	23211		<li>E->K at 287: in dbSNP:rs192824</li><li>M->V at 464: in dbSNP:rs402833</li><li>A->G at 1228: in dbSNP:rs309195</li>									<li>rs309195</li><li>rs402833</li><li>rs192824</li>	2
Q9UPU5	23358		<li>T->I at 226: in dbSNP:rs1165222</li><li>G->S at 1940: in dbSNP:rs2274540</li><li>Y->S at 2134: in dbSNP:rs12753590</li><li>V->A at 2468: in dbSNP:rs487230</li>									<li>rs2274540</li><li>rs487230</li><li>rs12753590</li><li>rs1165222</li>	2
Q9UPV0	22897	<ul><li>S->A at 186: Prevents phosphorylation</li></ul>	<li>S->N at 94: in dbSNP:rs490262</li><li>T->S at 988: in dbSNP:rs2305830</li><li>Q->R at 1119: in dbSNP:rs573455</li>	phosphorylation	GO:0016310							<li>rs573455</li><li>rs2305830</li><li>rs490262</li>	3
Q9UPW0			<li>A->V at 162: in dbSNP:rs343376</li><li>P->T at 377: in dbSNP:rs1139978</li>									<li>rs1139978</li><li>rs343376</li>	2
Q9UPW5	23287		<li>E->K at 423: in a colorectal cancer sample; somatic mutation</li>										2
Q9UPX6	23251		<li>V->F at 320: in dbSNP:rs11634652</li><li>I->V at 832: in dbSNP:rs2297773</li>									<li>rs2297773</li><li>rs11634652</li>	2
Q9UPY6	10810		<li>S->L at 415: in dbSNP:rs17084492</li>									rs17084492	2
Q9UPZ3	11234		<li>L->M at 417: in dbSNP:rs7128017</li>									rs7128017	2
Q9UQ03	10391		<li>P->L at 313: in a colorectal cancer sample; somatic mutation</li>										2
Q9UQ05	23415		<li>G->R at 797: in a colorectal cancer sample; somatic mutation</li>										2
Q9UQ07	5891		<li>R->H at 38: in dbSNP:rs34114580</li><li>D->N at 86: in dbSNP rsrs34084056</li><li>K->R at 230: in dbSNP:rs34965156</li><li>P->S at 248: in dbSNP rsrs34299975</li><li>E->D at 272: in a breast pleomorphic lobular carcinoma sample; somatic mutation</li><li>Q->R at 398: in dbSNP:rs2236493</li>									<li>rs34114580</li><li>rs2236493</li><li>rs34965156</li><li>rs34299975</li><li>rs34084056</li>	2
Q9UQ10	27294		<li>A->P at 2: in dbSNP:rs10401800</li><li>S->N at 66: in dbSNP:rs2270941</li><li>V->M at 200: in dbSNP:rs35453148</li><li>V->A at 247: in dbSNP:rs11666105</li><li>G->R at 282: in dbSNP:rs3765148</li>									<li>rs2270941</li><li>rs11666105</li><li>rs35453148</li><li>rs3765148</li><li>rs10401800</li>	2
Q9UQ35	23524		<li>P->T at 804: in dbSNP:rs2240140</li><li>T->R at 856: in dbSNP:rs12185191</li><li>S->C at 883: in dbSNP:rs17136053</li>									<li>rs2240140</li><li>rs17136053</li><li>rs12185191</li>	2
Q9UQ52	27255		<li>T->A at 108: in a breast cancer sample; somatic mutation</li><li>F->S at 150: in dbSNP:rs6808056</li><li>A->S at 440: in dbSNP:rs265771</li><li>S->C at 585: in a breast cancer sample; somatic mutation</li>									<li>rs6808056</li><li>rs265771</li>	2
Q9UQ53	11282		<li>Q->H at 257: in dbSNP:rs190631</li><li>L->F at 491: in dbSNP:rs17854722</li>									<li>rs17854722</li><li>rs190631</li>	2
Q9UQ74	440533		<li>Q->P at 315: in dbSNP:rs11879884</li><li>V->D at 349: in dbSNP:rs1064490</li>									<li>rs1064490</li><li>rs11879884</li>	2
Q9UQ88	728642		<li>R->W at 93: in dbSNP:rs1059831</li><li>L->S at 399: in dbSNP:rs1059828</li>									<li>rs1059828</li><li>rs1059831</li>	2
Q9UQ90	6687		<li>T->A at 503: in dbSNP:rs2292954</li><li>F->C at 623: in dbSNP:rs17783943</li><li>R->Q at 688: in dbSNP:rs12960</li><li>S->T at 692: in SPG7, MIM: 607259</li><li>N->D at 730: in dbSNP:rs35749032, MIM: 607259</li>							Q9UQ90	Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259]	<li>rs12960</li><li>rs35749032</li><li>rs2292954</li><li>rs17783943</li>	2
Q9UQB3	1501		<li>P->S at 1159: in a colorectal cancer sample; somatic mutation</li>										2
Q9UQB9	6795		<li>G->E at 52: in a lung adenocarcinoma sample; somatic mutation</li><li>E->Q at 148: in a lung squamous cell carcinoma sample; somatic mutation</li><li>H->Q at 244: in a lung adenocarcinoma sample; somatic mutation</li>										2
Q9UQC2	9846		<li>P->L at 320: in dbSNP:rs2279374</li><li>P->L at 344: in dbSNP:rs2279374</li>									rs2279374	2
Q9UQE7	9126		<li>Missing  at 491: in CDLS3</li>										2
Q9UQN3	25978		<li>I->V at 29</li><li>D->Y at 148: in FTD3, MIM: 600795</li><li>Q->H at 206: in amyotrophic lateral sclerosis; CHMP2B-related, MIM: 600795</li>							<li>Q9UQN3</li><li>Q5RAV2</li><li>Q3SX42</li><li>Q5F3A2</li>	Frontotemporal dementia, chromosome 3-linked (FTD3) [MIM:600795]		2
Q9UQP3	63923		<li>R->G at 79: in dbSNP:rs2072032</li><li>D->N at 289: in dbSNP:rs16847812</li><li>R->S at 440: in dbSNP:rs6664276</li><li>T->M at 499: in dbSNP:rs17374761</li><li>W->R at 807: in dbSNP:rs6696455</li><li>P->L at 930: in dbSNP:rs2285215</li><li>T->M at 941: in dbSNP:rs10798333</li><li>D->E at 1135: in dbSNP:rs10158841</li><li>A->V at 1156: in dbSNP:rs2072036</li>									<li>rs6696455</li><li>rs10798333</li><li>rs6664276</li><li>rs2072036</li><li>rs10158841</li><li>rs16847812</li><li>rs2072032</li><li>rs2285215</li><li>rs17374761</li>	2
Q9UQQ2	10019		<li>F->L at 182: in dbSNP:rs7972796</li><li>W->R at 262: associated with susceptibility to CELIAC13 and IDDM; dbSNP:rs3184504</li>									<li>rs7972796</li><li>rs3184504</li>	2
Q9UQV4	27074		<li>E->G at 32: in dbSNP:rs17853113</li><li>I->V at 318: in dbSNP:rs482912</li>									<li>rs482912</li><li>rs17853113</li>	2
Q9Y210	7225		<li>P->Q at 112: in FSGS2, MIM: 603965</li><li>N->S at 143: in FSGS2, MIM: 603965</li><li>N->T at 157: in dbSNP:rs35857503, MIM: 603965</li><li>S->T at 270: in FSGS2, MIM: 603965</li><li>R->C at 895: in FSGS2, MIM: 603965</li><li>E->K at 897: in FSGS2, MIM: 603965</li>								Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965]	rs35857503	2
Q9Y215	8292		<li>P->Q at 59: in CMSE; abrogates binding to T subunit, MIM: 603034</li><li>S->G at 312: in dbSNP:rs6782980, MIM: 603034</li><li>D->E at 342: in CMSE; impairs anchoring to the basal lamina, MIM: 603034</li><li>R->Q at 410: in CMSE, MIM: 603034</li><li>Y->S at 430: in CMSE, MIM: 603034</li><li>C->Y at 444: in CMSE, MIM: 603034</li>			binding	GO:0005488	basal lamina	GO:0005605		Congenital myasthenic syndrome Engel type (CMSE) [MIM:603034]	rs6782980	2
Q9Y217	9107		<li>V->I at 319: in dbSNP:rs7995033</li>									rs7995033	2
Q9Y219	3714		<li>E->K at 501: in dbSNP:rs1057744</li><li>D->N at 538: in dbSNP:rs9972231</li>									<li>rs1057744</li><li>rs9972231</li>	2
Q9Y221	51388		<li>E->Q at 171: in a breast cancer sample; somatic mutation</li>										2
Q9Y222	9988		<li>V->I at 479: in dbSNP:rs1558049</li>									rs1558049	2
Q9Y223	10020		<li>P->S at 27: in IBM2, MIM: 600737</li><li>P->L at 36: in IBM2, MIM: 600737</li><li>H->Q at 132: in NM, MIM: 605820</li><li>R->C at 162: in IBM2, MIM: 600737</li><li>M->V at 171: in IBM2, MIM: 600737</li><li>D->V at 176: in NM, MIM: 605820</li><li>R->C at 177: in NM, MIM: 605820</li><li>I->F at 200: in IBM2, MIM: 600737</li><li>G->S at 206: in IBM2; moderate phenotype with unusual involvement of quadriceps, MIM: 600737</li><li>V->A at 216: in IBM2, MIM: 600737</li><li>D->N at 225: in IBM2, MIM: 600737</li><li>R->Q at 246: in IBM2, MIM: 600737</li><li>R->W at 246: in IBM2, MIM: 600737</li><li>R->L at 263: in sialuria; strong reduction of feedback inhibition by CMP-Neu5Ac, MIM: 269921</li><li>R->Q at 266: in sialuria; abolishes feedback inhibition by CMP-Neu5Ac, MIM: 269921</li><li>R->W at 266: in sialuria, MIM: 269921</li><li>C->V at 303: in IBM2; requires 2 nucleotide substitutions, MIM: 600737</li><li>R->Q at 306: in NM, MIM: 605820</li><li>V->A at 331: in NM, MIM: 605820</li><li>D->Y at 378: in IBM2 and NM, MIM: 605820</li><li>A->V at 460: in NM and IBM2, MIM: 605820</li><li>I->T at 472: in NM, MIM: 605820</li><li>N->S at 519: in IBM2, MIM: 600737</li><li>A->V at 524: in IBM2, MIM: 600737</li><li>F->C at 528: in IBM2, MIM: 600737</li><li>I->T at 557: in IBM2, MIM: 600737</li><li>V->L at 572: in NM and IBM2, MIM: 605820</li><li>G->E at 576: in IBM2, MIM: 600737</li><li>I->T at 587: in IBM2, MIM: 600737</li><li>A->T at 600: in IBM2, MIM: 600737</li><li>A->T at 630: in NM, MIM: 605820</li><li>A->T at 631: in IBM2, MIM: 600737</li><li>A->V at 631: in NM and IBM2, MIM: 605820</li><li>Y->H at 675: in IBM2, MIM: 600737</li><li>V->M at 696: in IBM2, MIM: 600737</li><li>M->T at 712: in IBM2: in dbSNP rsrs28937594, MIM: 600737</li>							<li>P21941</li><li>P05099</li>	<li>Inclusion body myopathy type 2 (IBM2) [MIM:600737]</li><li>Sialuria [MIM:269921]</li><li>Nonaka myopathy (NM) [MIM:605820]</li>	rs28937594	2
Q9Y226	9390		<li>V->I at 43: in dbSNP:rs17853496</li><li>L->F at 443: in dbSNP:rs17857080</li>									<li>rs17857080</li><li>rs17853496</li>	2
Q9Y227	9583		<li>K->E at 354: in dbSNP:rs2272641</li>									rs2272641	2
Q9Y228	80342		<li>Q->E at 373: in dbSNP:rs669694</li><li>P->S at 529: in a colorectal cancer sample; somatic mutation</li>									rs669694	2
Q9Y231	10690		<li>A->T at 237: in dbSNP:rs3811069</li><li>W->G at 358: in dbSNP:rs9986564</li>									<li>rs3811069</li><li>rs9986564</li>	2
Q9Y232	9425		<li>T->A at 2: in dbSNP:rs3812179</li><li>S->P at 9: in dbSNP:rs3812178</li><li>V->A at 48: in dbSNP:rs13196069</li><li>A->G at 60: in dbSNP:rs28360500</li>									<li>rs28360500</li><li>rs3812179</li><li>rs13196069</li><li>rs3812178</li>	2
Q9Y235	10930		<li>I->T at 136: in dbSNP:rs2076472</li>									rs2076472	2
Q9Y236	734		<li>Y->H at 101: in dbSNP:rs35542900</li><li>C->S at 319: in dbSNP:rs35599414</li>									<li>rs35599414</li><li>rs35542900</li>	2
Q9Y238	9940		<li>P->R at 351: in a breast cancer sample; somatic mutation</li>										2
Q9Y240	6320		<li>P->R at 104: in dbSNP:rs2303688</li>									rs2303688	2
Q9Y242	6941		<li>P->S at 109: in dbSNP:rs7750641</li><li>M->V at 211: in dbSNP:rs2073721</li><li>P->L at 241: in dbSNP:rs2073724</li>									<li>rs2073721</li><li>rs7750641</li><li>rs2073724</li>	2
Q9Y250	11178		<li>S->P at 29: in esophageal cancer: in dbSNP rsrs28937897</li><li>S->F at 50: in dbSNP:rs34620053</li><li>K->E at 119: in esophageal cancer</li><li>L->V at 475: in dbSNP:rs723874</li>									<li>rs28937897</li><li>rs34620053</li><li>rs723874</li>	2
Q9Y252	6049		<li>N->S at 48: in dbSNP:rs3910433</li><li>V->E at 203: in dbSNP:rs7990167</li><li>S->N at 623: in dbSNP:rs17083436</li>									<li>rs3910433</li><li>rs7990167</li><li>rs17083436</li>	2
Q9Y256	9986		<li>P->A at 326: in a breast cancer sample; somatic mutation</li>										2
Q9Y258	10344		<li>L->R at 18: in dbSNP:rs11465333</li>									rs11465333	2
Q9Y261	3170		<li>A->V at 328: in Japanese subjects with maturity-onset diabetes of the young; pathological significance unknown</li>										2
Q9Y262	51386		<li>N->S at 239: in dbSNP:rs11551387</li>									rs11551387	2
Q9Y264	51378		<li>E->K at 395: in dbSNP:rs869171</li>									rs869171	2
Q9Y274	10402		<li>A->T at 311: in dbSNP:rs28489284</li>									rs28489284	2
Q9Y275	10673		<li>A->T at 105</li>										2
Q9Y276	617		<li>G->R at 35: in BJS; with mild mitochondrial CIII deficiency, MIM: 262000</li><li>R->C at 45: in CIII deficiency, MIM: 124000</li><li>S->G at 78: in GRACILE syndrome; Finnish patients; dbSNP:rs28937590, MIM: 603358</li><li>P->L at 99: in CIII deficiency, MIM: 124000</li><li>R->W at 114: in BJS, MIM: 262000</li><li>R->Q at 144: in GRACILE syndrome, MIM: 603358</li><li>R->P at 155: in CIII deficiency, MIM: 124000</li><li>R->H at 183: in BJS, MIM: 262000</li><li>R->C at 184: in BJS; with mild mitochondrial CIII deficiency, MIM: 262000</li><li>S->N at 277: in CIII deficiency, MIM: 124000</li><li>Q->E at 302: in BJS, MIM: 262000</li><li>R->H at 306: in BJS, MIM: 262000</li><li>V->A at 327: in GRACILE syndrome, MIM: 603358</li><li>V->M at 353: in CIII deficiency, MIM: 124000</li>							<li>P14110</li><li>P18681</li><li>P03044</li><li>P01083</li>	<li>GRACILE syndrome [MIM:603358]</li><li>Bjoernstad syndrome (BJS) [MIM:262000]</li><li>Mitochondrial complex III deficiency (CIII deficiency) [MIM:124000]</li>	rs28937590	2
Q9Y278	9956		<li>P->A at 339: in dbSNP:rs17725080</li>									rs17725080	2
Q9Y279	11326		<li>R->W at 108: in dbSNP:rs34581041</li><li>G->E at 272: in dbSNP:rs34222730</li><li>G->E at 279: in dbSNP:rs17315645</li><li>S->I at 397: in dbSNP:rs35553694</li>									<li>rs34581041</li><li>rs35553694</li><li>rs17315645</li><li>rs34222730</li>	2
Q9Y281	1073		<li>A->T at 35: in NEM7; protein is less soluble when expressed in Escherichia coli, MIM: 610687</li><li>I->M at 47: in a breast cancer sample; somatic mutation, MIM: 610687</li>								Nemaline myopathy type 7 (NEM7) [MIM:610687]		2
Q9Y282	51614		<li>I->L at 113: in dbSNP:rs35505616</li><li>T->K at 297: in a colorectal cancer sample; somatic mutation</li>									rs35505616	2
Q9Y283	27130		<li>S->L at 242: in dbSNP:rs2491097</li><li>P->R at 482: in NPHP2, MIM: 602088</li><li>L->S at 493: in NPHP2; impairs ability to target DVL1 for degradation, MIM: 602088</li><li>S->R at 888: in dbSNP:rs1052867, MIM: 602088</li>							<li>P54792</li><li>Q6JAN1</li><li>Q5IS48</li><li>Q9Y283</li><li>O14640</li>	Nephronophthisis type 2 (NPHP2) [MIM:602088]	<li>rs1052867</li><li>rs2491097</li>	2
Q9Y284	51398		<li>P->A at 104: in dbSNP:rs3209404</li>									rs3209404	2
Q9Y285	2193		<li>Q->R at 341: in dbSNP:rs35087277</li>									rs35087277	2
Q9Y286	27036		<li>L->P at 215: in a colorectal cancer sample; somatic mutation</li>										2
Q9Y287	9445		<li>S->FNLFLNSQEKHY at 266: in FDD; amyloid ADan</li><li>S->SRTVKKNIIEEN at 266: in FBD; amyloid ABri</li>										2
Q9Y289	8884		<li>S->F at 481: in dbSNP:rs1395</li><li>S->N at 492: in dbSNP:rs1064845</li>									<li>rs1395</li><li>rs1064845</li>	2
Q9Y296	51399		<li>D->A at 78: in dbSNP:rs11640</li>									rs11640	2
Q9Y297	8945		<li>A->S at 543: in dbSNP:rs4151060</li><li>P->H at 592: in dbSNP:rs2270439</li>									<li>rs2270439</li><li>rs4151060</li>	2
Q9Y2A9	10331		<li>H->R at 328: in dbSNP:rs36686</li>									rs36686	2
Q9Y2B4	27296		<li>R->H at 57: in dbSNP:rs2231616</li><li>V->A at 172: in dbSNP:rs2231619</li><li>R->H at 191: in dbSNP:rs2231620</li><li>H->Q at 219: in dbSNP:rs2231622</li><li>P->L at 221: in dbSNP:rs2231623</li><li>V->A at 257: in dbSNP:rs2231627</li><li>H->N at 275: in dbSNP:rs2231628</li>									<li>rs2231628</li><li>rs2231619</li><li>rs2231627</li><li>rs2231616</li><li>rs2231623</li><li>rs2231620</li><li>rs2231622</li>	2
Q9Y2C3	10317		<li>S->R at 27: in dbSNP:rs12627708</li><li>M->T at 85: in dbSNP:rs3746887</li><li>R->H at 144: in dbSNP:rs734411</li>									<li>rs734411</li><li>rs3746887</li><li>rs12627708</li>	2
Q9Y2C5	10050		<li>A->T at 372: in dbSNP:rs11754288</li>									rs11754288	2
Q9Y2D1			<li>L->P at 121: in dbSNP:rs283526</li>									rs283526	2
Q9Y2D5	445815		<li>L->S at 561: in dbSNP:rs914358</li>									rs914358	2
Q9Y2E4	22982		<li>A->E at 586: in a breast cancer sample; somatic mutation</li><li>G->S at 622: in a colorectal cancer sample; somatic mutation</li><li>V->M at 1264: in a breast cancer sample; somatic mutation</li>										2
Q9Y2E5	23324		<li>P->Q at 243: in dbSNP:rs2301796</li><li>V->M at 320: in dbSNP:rs2301795</li><li>V->M at 446: in dbSNP:rs2301790</li><li>S->N at 541: in dbSNP:rs2301788</li>									<li>rs2301790</li><li>rs2301796</li><li>rs2301795</li><li>rs2301788</li>	2
Q9Y2F5	23379		<li>S->C at 391: in dbSNP:rs2619844</li><li>K->E at 596: in dbSNP:rs10475299</li><li>I->V at 901: in dbSNP:rs2578500</li><li>T->A at 1054: in dbSNP:rs3806873</li><li>G->D at 1058: in dbSNP:rs3806874</li><li>Q->P at 1597: in dbSNP:rs10065646</li>									<li>rs3806874</li><li>rs3806873</li><li>rs10475299</li><li>rs2578500</li><li>rs10065646</li><li>rs2619844</li>	2
Q9Y2G1	745		<li>A->T at 723: in dbSNP:rs34038946</li>									rs34038946	2
Q9Y2G4	22881		<li>Q->E at 122: in dbSNP:rs16881983</li><li>V->I at 128: in dbSNP:rs3748085</li><li>T->M at 233: in dbSNP:rs2273238</li><li>T->A at 545: in dbSNP:rs9362667</li>									<li>rs9362667</li><li>rs3748085</li><li>rs16881983</li><li>rs2273238</li>	2
Q9Y2H5	22874		<li>V->I at 43: in dbSNP:rs10900571</li><li>R->K at 837: in dbSNP:rs10900562</li>									<li>rs10900562</li><li>rs10900571</li>	2
Q9Y2H8	22869		<li>Q->R at 43: in dbSNP:rs2289651</li><li>C->R at 89: in dbSNP:rs3780548</li><li>N->K at 273: in dbSNP:rs10217154</li><li>H->D at 398: in dbSNP:rs11999094</li><li>M->I at 401: in dbSNP:rs10217494</li><li>G->E at 634: in dbSNP:rs10119874</li>									<li>rs10119874</li><li>rs10217154</li><li>rs3780548</li><li>rs2289651</li><li>rs11999094</li><li>rs10217494</li>	2
Q9Y2H9	22983		<li>A->T at 269: in a metastatic melanoma sample; somatic mutation</li><li>A->S at 1048: in dbSNP:rs35052801</li><li>H->Y at 1240: in an ovarian serous carcinoma sample; somatic mutation</li><li>P->S at 1292: in dbSNP rsrs35071862</li>									<li>rs35052801</li><li>rs35071862</li>	2
Q9Y2I7	200576		<li>K->R at 1103: in CFD, MIM: 121850</li>							<li>P51779</li><li>P00746</li>	Corneal fleck dystrophy (CFD) [MIM:121850]		2
Q9Y2I8	22884		<li>I->V at 225: in dbSNP:rs2306407</li>									rs2306407	2
Q9Y2I9	23329		<li>Q->H at 296: in dbSNP:rs11615287</li><li>N->D at 596: in dbSNP:rs2290527</li><li>V->I at 752: in dbSNP:rs939875</li>									<li>rs11615287</li><li>rs2290527</li><li>rs939875</li>	2
Q9Y2J2	23136		<li>A->T at 555: in dbSNP:rs9966357</li><li>Y->C at 575: in dbSNP:rs8082898</li><li>E->Q at 859: in dbSNP:rs8096452</li>									<li>rs9966357</li><li>rs8096452</li><li>rs8082898</li>	2
Q9Y2J4	51421		<li>D->E at 731: in dbSNP:rs1353776</li>									rs1353776	2
Q9Y2K3	22989		<li>R->Q at 454: in dbSNP:rs4299484</li><li>Y->H at 504: in dbSNP:rs9868484</li><li>T->I at 949: in dbSNP:rs12638212</li><li>T->A at 1125: in dbSNP:rs3900940</li><li>D->N at 1467: in dbSNP:rs1078456</li>									<li>rs1078456</li><li>rs4299484</li><li>rs12638212</li><li>rs3900940</li><li>rs9868484</li>	2
Q9Y2K6	10868		<li>S->Y at 103: in dbSNP:rs36086252</li><li>V->I at 444: in dbSNP:rs36055332</li>									<li>rs36055332</li><li>rs36086252</li>	2
Q9Y2K9	9515		<li>T->S at 568: in dbSNP:rs17249244</li><li>V->I at 855: in dbSNP:rs17740066</li>									<li>rs17249244</li><li>rs17740066</li>	2
Q9Y2L1	22894		<li>N->S at 269: in dbSNP:rs4883918</li><li>T->R at 326: in dbSNP:rs7332388</li>									<li>rs4883918</li><li>rs7332388</li>	2
Q9Y2L5	22878		<li>R->Q at 537: in a breast cancer sample; somatic mutation</li>										2
Q9Y2L9	23143		<li>P->S at 234: in dbSNP:rs842381</li><li>A->S at 486: in dbSNP:rs11617392</li>									<li>rs842381</li><li>rs11617392</li>	2
Q9Y2M0	22909		<li>G->E at 233: in dbSNP:rs4779794</li>									rs4779794	2
Q9Y2M2	51066		<li>P->L at 29: in dbSNP:rs2276800</li>									rs2276800	2
Q9Y2P4	28965		<li>L->V at 19: in dbSNP:rs2526247</li>									rs2526247	2
Q9Y2P5	10998		<li>M->T at 50: in dbSNP:rs35350976</li><li>R->W at 53: in dbSNP:rs34415062</li>									<li>rs34415062</li><li>rs35350976</li>	2
Q9Y2Q0	10396		<li>T->M at 673: in dbSNP:rs3792687</li>									rs3792687	2
Q9Y2Q9	28957		<li>R->W at 103: in dbSNP:rs16919579</li>									rs16919579	2
Q9Y2R2	26191		<li>R->W at 620: confers susceptibility to systemic lupus erythematosus and type 1 diabetes mellitus; affects CSK kinase binding; dbSNP:rs2476601</li>			kinase binding	GO:0019900			<li>P41239</li><li>Q0VBZ0</li><li>P41240</li>		rs2476601	2
Q9Y2R9	51081		<li>V->A at 2: in dbSNP:rs8075276</li>									rs8075276	2
Q9Y2T6	9290		<li>G->V at 195: in dbSNP:rs3749073</li><li>T->N at 215: in dbSNP:rs34229723</li>									<li>rs3749073</li><li>rs34229723</li>	2
Q9Y2T7	51087		<li>G->V at 9: in dbSNP:rs222859</li><li>S->P at 63: in dbSNP:rs8069533</li>									<li>rs8069533</li><li>rs222859</li>	2
Q9Y2U5	10746		<li>I->V at 110: in dbSNP rsrs55767983</li><li>M->I at 112: in a lung large cell carcinoma sample; somatic mutation</li><li>D->G at 140: in dbSNP rsrs56307783</li>									<li>rs55767983</li><li>rs56307783</li>	2
Q9Y2U8	23592		<li>D->Y at 260: in dbSNP:rs7487311</li>									rs7487311	2
Q9Y2V3	30062		<li>D->E at 44: in dbSNP:rs2271733</li><li>R->Q at 192: in MCOP3; does not affect nuclear localization; reduces DNA binding activity, MIM: 611038</li>	localization	GO:0051179	DNA binding	GO:0003677				Microphthalmia isolated type 3 (MCOP3) [MIM:611038]	rs2271733	2
Q9Y2V7	57511		<li>A->T at 10: in dbSNP:rs3812882</li><li>C->S at 32: in dbSNP:rs3812883</li><li>H->Y at 300: in dbSNP:rs34555836</li>									<li>rs3812882</li><li>rs3812883</li><li>rs34555836</li>	2
Q9Y2W1	9967		<li>A->V at 201: in dbSNP:rs6425977</li>									rs6425977	2
Q9Y2X0	10025		<li>L->F at 770: in dbSNP:rs34859566</li><li>E->K at 874: in dbSNP:rs13090</li>									<li>rs13090</li><li>rs34859566</li>	2
Q9Y2X9	23528		<li>I->T at 527: in a breast cancer sample; somatic mutation</li>										2
Q9Y2Y0	23568		<li>E->K at 87: in dbSNP:rs7198865</li>									rs7198865	2
Q9Y2Y1	51728		<li>S->A at 24: in dbSNP:rs183360</li>									rs183360	2
Q9Y2Y4	27033		<li>R->S at 174: in dbSNP:rs2227278</li>									rs2227278	2
Q9Y2Y6	26022		<li>W->R at 83: in dbSNP:rs35124349</li>									rs35124349	2
Q9Y2Y8	10394		<li>R->C at 3: in dbSNP:rs669661</li><li>T->I at 109: in dbSNP:rs540687</li>									<li>rs540687</li><li>rs669661</li>	2
Q9Y2Z4	51067		<li>G->V at 191: in dbSNP:rs11539445</li>									rs11539445	2
Q9Y2Z9	51004		<li>D->Y at 300: in dbSNP:rs1044640</li><li>D->V at 339: in dbSNP:rs2074930</li><li>T->M at 395: in dbSNP:rs34746680</li><li>V->M at 406: in dbSNP:rs8500</li>									<li>rs2074930</li><li>rs8500</li><li>rs34746680</li><li>rs1044640</li>	2
Q9Y303	51005		<li>D->N at 294: in a colorectal cancer sample; somatic mutation</li>										2
Q9Y312	25980		<li>P->T at 124: in dbSNP:rs6121183</li>									rs6121183	2
Q9Y314	51070		<li>T->M at 168: in dbSNP:rs17850728</li>									rs17850728	2
Q9Y337	25818		<li>G->R at 55: in dbSNP:rs2232532</li><li>D->N at 153: in dbSNP:rs183854</li>									<li>rs183854</li><li>rs2232532</li>	2
Q9Y345	9152		<li>A->E at 89: no effect on subcellular location; no effect on glycine transport</li><li>G->S at 102: in dbSNP:rs1443547</li><li>S->F at 124: in dbSNP:rs1443548</li><li>A->G at 132: in dbSNP:rs34243519</li><li>G->A at 162: in dbSNP:rs1443549</li><li>Q->R at 184</li><li>L->V at 306: in STHE; compound heterozygote with S-509; impairment of glycine transport when coexpressed with S-509 in vitro, MIM: 149400</li><li>T->M at 425: in STHE; no effect on subcellular location; impairs glycine transport, MIM: 149400</li><li>K->N at 457: in dbSNP:rs3740870, MIM: 149400</li><li>D->N at 463: in 10% of the population; dbSNP:rs1805091, MIM: 149400</li><li>W->C at 482: in STHE; no effect on subcellular location; impairs glycine transport, MIM: 149400</li><li>Y->C at 491: in STHE; no effect on subcellular location; impairs glycine transport, MIM: 149400</li><li>Y->F at 499: in dbSNP:rs7944684, MIM: 149400</li><li>N->S at 509: in STHE; compound heterozygote with V-306; no effect on subcellular location; impairs glycine transport, MIM: 149400</li><li>S->R at 510: in STHE; results in the formation of large aggregates in the cytoplasm; impairs glycine transport, MIM: 149400</li><li>V->E at 632: in a breast cancer sample; somatic mutation, MIM: 149400</li><li>V->A at 751, MIM: 149400</li><li>G->R at 767: in dbSNP:rs16906628, MIM: 149400</li>	glycine transport	GO:0015816			cytoplasm	GO:0005737		Startle disease (STHE) [MIM:149400]	<li>rs1805091</li><li>rs1443547</li><li>rs7944684</li><li>rs1443548</li><li>rs1443549</li><li>rs34243519</li><li>rs16906628</li><li>rs3740870</li>	2
Q9Y375	51103		<li>R->H at 9: in dbSNP:rs1899</li><li>R->L at 31: in dbSNP:rs3204853</li><li>E->K at 176: in dbSNP:rs35227875</li><li>A->G at 314: in dbSNP:rs12900702</li>									<li>rs1899</li><li>rs35227875</li><li>rs12900702</li><li>rs3204853</li>	2
Q9Y383	51631		<li>D->E at 361: in dbSNP:rs3757435</li>									rs3757435	2
Q9Y388	51634		<li>R->H at 287: in dbSNP:rs5977266</li>									rs5977266	2
Q9Y394	51635		<li>R->Q at 218: in dbSNP:rs34583017</li>									rs34583017	2
Q9Y399	51116		<li>D->G at 112: in dbSNP:rs35140806</li><li>M->V at 158: in dbSNP:rs35293407</li><li>H->R at 294: in dbSNP:rs3748199</li>									<li>rs3748199</li><li>rs35293407</li><li>rs35140806</li>	2
Q9Y3A0	51117		<li>R->Q at 20: in dbSNP:rs9697215</li><li>G->A at 50: in dbSNP rsrs3003601</li>									<li>rs3003601</li><li>rs9697215</li>	2
Q9Y3A4	27341		<li>L->M at 75: in dbSNP:rs8139383</li><li>V->I at 85: in dbSNP:rs1812240</li><li>V->I at 88: in dbSNP:rs11553441</li>									<li>rs1812240</li><li>rs8139383</li><li>rs11553441</li>	2
Q9Y3A5	51119		<li>N->K at 8: in SDS: in dbSNP rsrs28942099, MIM: 260400</li><li>E->G at 44: in SDS, MIM: 260400</li><li>K->E at 67: in SDS, MIM: 260400</li><li>I->S at 87: in SDS, MIM: 260400</li><li>R->T at 126: in SDS, MIM: 260400</li><li>R->C at 169: in SDS, MIM: 260400</li><li>I->T at 212: in SDS, MIM: 260400</li>							P20132	Shwachman-Diamond syndrome (SDS) [MIM:260400]	rs28942099	2
Q9Y3A6	50999		<li>T->I at 175: in dbSNP rsrs1060622</li>									rs1060622	2
Q9Y3B6	51016		<li>A->V at 97: in dbSNP:rs11574512</li>									rs11574512	2
Q9Y3B9	51018		<li>A->V at 32: in dbSNP:rs34358288</li><li>K->N at 149: in dbSNP:rs11118075</li><li>K->R at 230: in dbSNP:rs3737978</li>									<li>rs34358288</li><li>rs11118075</li><li>rs3737978</li>	2
Q9Y3C6	51645		<li>C->S at 36: in dbSNP:rs12194408</li>									rs12194408	2
Q9Y3D2	22921		<li>E->G at 46: in dbSNP:rs2296466</li>									rs2296466	2
Q9Y3D3	51021		<li>Y->H at 12: in dbSNP:rs7905009</li>									rs7905009	2
Q9Y3D7	51025		<li>Q->K at 114: in dbSNP:rs11989</li>									rs11989	2
Q9Y3E2	51027		<li>G->A at 98: in dbSNP:rs1044808</li>									rs1044808	2
Q9Y3I0	51493		<li>V->A at 153: in dbSNP:rs11545747</li><li>L->F at 343: in dbSNP:rs17849275</li>									<li>rs17849275</li><li>rs11545747</li>	2
Q9Y3I1	25793		<li>M->I at 115: in dbSNP:rs11107</li><li>R->G at 378: in PKPS, MIM: 260300</li>								Parkinsonian-pyramidal syndrome (PKPS) [MIM:260300]	rs11107	2
Q9Y3L3	23616		<li>L->P at 431: in dbSNP:rs929038</li><li>P->L at 511: in dbSNP:rs929038</li><li>S->F at 656: in dbSNP:rs2269548</li>									<li>rs2269548</li><li>rs929038</li>	2
Q9Y3M9	26152		<li>V->I at 17: in dbSNP:rs926487</li><li>R->G at 467: in dbSNP:rs16987972</li>									<li>rs926487</li><li>rs16987972</li>	2
Q9Y3N9	26692		<li>M->V at 81: in allele 6M1-15*03; dbSNP:rs34892006</li><li>D->N at 296: in allele 6M1-15*02; dbSNP:rs35771565</li>									<li>rs35771565</li><li>rs34892006</li>	2
Q9Y3P4	25807		<li>T->M at 86: in dbSNP:rs2272902</li><li>H->R at 227: in dbSNP:rs2231397</li>									<li>rs2231397</li><li>rs2272902</li>	2
Q9Y3Q0	10003		<li>V->I at 101: in dbSNP:rs11018879</li><li>I->V at 446: in dbSNP:rs10830430</li>									<li>rs11018879</li><li>rs10830430</li>	2
Q9Y3Q3	23423		<li>D->N at 86: in dbSNP:rs3784543</li>									rs3784543	2
Q9Y3Q4	10021		<li>D->N at 553: in a patient with cardiac arrhythmia</li><li>S->R at 672: in SSS2; does not affect cAMP-induced channel activation; causes shifting of the current activation range to hyperpolarized voltages, MIM: 163800</li>							P00360	Sick sinus syndrome type 2 (SSS2) [MIM:163800]		2
Q9Y3Q7	8749		<li>V->F at 212: in dbSNP:rs10093794</li>									rs10093794	2
Q9Y3Q8	81628		<li>V->M at 329: in a breast cancer sample; somatic mutation</li>										2
Q9Y3R4	4759		<li>S->R at 11: in dbSNP:rs2233384</li><li>R->Q at 41: reduced activity; increased sensitivity to inhibition by oseltamivir carboxylate; dbSNP:rs2233385</li><li>A->T at 145: in dbSNP:rs2233390</li><li>H->N at 168: in dbSNP:rs2233391</li><li>R->Q at 182: in dbSNP:rs2233393</li>									<li>rs2233385</li><li>rs2233384</li><li>rs2233390</li><li>rs2233391</li><li>rs2233393</li>	2
Q9Y3R5	9980		<li>S->W at 1021: in dbSNP:rs7278340</li><li>G->C at 1118: in dbSNP:rs4817788</li><li>P->H at 1149: in dbSNP:rs3746866</li><li>R->S at 1217: in dbSNP:rs3746867</li><li>G->E at 2139: in dbSNP:rs3827183</li>									<li>rs3827183</li><li>rs4817788</li><li>rs7278340</li><li>rs3746867</li><li>rs3746866</li>	2
Q9Y3S2	27309		<li>T->A at 28: in dbSNP:rs35353789</li><li>L->M at 298: in dbSNP:rs34631212</li>									<li>rs35353789</li><li>rs34631212</li>	2
Q9Y3T6	203069		<li>A->T at 136: in dbSNP:rs6980542</li><li>R->K at 185: in dbSNP:rs3808536</li><li>V->M at 347: in dbSNP:rs2272761</li><li>L->R at 403: in dbSNP:rs13530</li>									<li>rs3808536</li><li>rs6980542</li><li>rs13530</li><li>rs2272761</li>	2
Q9Y3T9	26155		<li>A->V at 271: in dbSNP:rs3828049</li><li>V->I at 300: in dbSNP:rs3748597</li><li>S->L at 556: in dbSNP:rs35471880</li>									<li>rs35471880</li><li>rs3828049</li><li>rs3748597</li>	2
Q9Y3U8	25873		<li>K->E at 67: in dbSNP:rs11556110</li>									rs11556110	2
Q9Y3X0	26093		<li>E->D at 215: in dbSNP:rs2032811</li><li>A->V at 456: in dbSNP:rs35119724</li><li>L->P at 478: in dbSNP:rs888836</li>									<li>rs35119724</li><li>rs888836</li><li>rs2032811</li>	2
Q9Y3Y4	26108		<li>P->H at 299: in dbSNP:rs11858624</li>									rs11858624	2
Q9Y426	25966		<li>V->A at 211: in dbSNP:rs2839421</li><li>T->A at 618: in dbSNP:rs9981024</li>									<li>rs2839421</li><li>rs9981024</li>	2
Q9Y442	25775		<li>H->L at 11: in dbSNP:rs1984388</li>									rs1984388	2
Q9Y448	90417		<li>A->E at 40: in dbSNP:rs7164132</li><li>R->L at 75: in dbSNP:rs7169404</li><li>P->S at 92: in dbSNP:rs7169262</li>									<li>rs7164132</li><li>rs7169262</li><li>rs7169404</li>	2
Q9Y450	10767		<li>G->S at 440: in dbSNP:rs4435957</li>									rs4435957	2
Q9Y458	50945		<li>V->A at 16: in a colorectal cancer sample; somatic mutation</li><li>A->T at 51: in a colorectal cancer sample; somatic mutation</li><li>G->C at 118: in CPX, MIM: 303400</li><li>M->V at 121: in CPX, MIM: 303400</li><li>P->L at 183: in CPX, MIM: 303400</li><li>E->K at 187: in dbSNP rsrs34244923, MIM: 303400</li><li>L->P at 214: in CPX, MIM: 303400</li><li>T->M at 260: in CPX, MIM: 303400</li><li>N->Y at 264: in CPX: in dbSNP rsrs28935177, MIM: 303400</li><li>D->N at 307: in a colorectal cancer sample; somatic mutation, MIM: 303400</li>							<li>Q42946</li><li>P36551</li><li>Q42840</li><li>Q9LR75</li><li>P35055</li>	X-linked cleft palate with ankyloglossia (CPX) [MIM:303400]	<li>rs28935177</li><li>rs34244923</li>	2
Q9Y467	6297		<li>S->C at 75: in dbSNP:rs2242527</li><li>S->P at 122: in dbSNP:rs1263811</li><li>R->G at 746: in dbSNP:rs1263810</li>									<li>rs2242527</li><li>rs1263811</li><li>rs1263810</li>	2
Q9Y468	26013		<li>S->T at 49: in dbSNP:rs17857202</li><li>I->M at 479: in dbSNP:rs6017104</li><li>H->R at 759: in dbSNP:rs6030948</li>									<li>rs6030948</li><li>rs6017104</li><li>rs17857202</li>	2
Q9Y473	7728		<li>C->R at 505: in dbSNP:rs3764548</li>									rs3764548	2
Q9Y487	23545		<li>R->Q at 685: in dbSNP:rs7969410</li><li>A->V at 813: in dbSNP:rs17883456</li>									<li>rs7969410</li><li>rs17883456</li>	2
Q9Y490	7094		<li>S->L at 1227: in dbSNP:rs2295795</li><li>R->W at 1919: in dbSNP:rs17854239</li>									<li>rs17854239</li><li>rs2295795</li>	2
Q9Y4A5	8295		<li>R->L at 878: in dbSNP:rs17161510</li><li>R->C at 893: in an ovarian serous carcinoma sample; somatic mutation</li><li>S->G at 1070: in dbSNP rsrs55920979</li><li>R->H at 1669: in a colorectal adenocarcinoma sample; somatic mutation</li><li>R->H at 1724: in a gastric adenocarcinoma sample; somatic mutation</li><li>A->V at 1925</li><li>P->L at 1932: in a colorectal adenocarcinoma sample; somatic mutation</li><li>R->L at 1947: in an ovarian mucinous carcinoma sample; somatic mutation</li><li>W->G at 2139</li><li>R->W at 2302: in a colorectal adenocarcinoma sample; somatic mutation</li><li>S->G at 2433</li><li>P->L at 2690: in a lung large cell carcinoma sample; somatic mutation</li><li>E->D at 2750</li><li>K->E at 2801</li><li>T->M at 2931: in a colorectal adenocarcinoma sample; somatic mutation</li>									<li>rs55920979</li><li>rs17161510</li>	2
Q9Y4A9	26539		<li>G->R at 16: in dbSNP:rs4808383</li><li>A->V at 65: in dbSNP:rs4808382</li><li>H->Q at 175: in dbSNP:rs1859298</li>									<li>rs4808382</li><li>rs4808383</li><li>rs1859298</li>	2
Q9Y4B4			<li>F->L at 1369: in dbSNP:rs35712917</li>									rs35712917	2
Q9Y4B5	23255		<li>R->Q at 852: in dbSNP:rs1965665</li><li>D->G at 889: in dbSNP:rs3744979</li><li>G->S at 1088: in dbSNP:rs12386117</li><li>K->Q at 1202: in dbSNP:rs11874468</li>									<li>rs11874468</li><li>rs1965665</li><li>rs3744979</li><li>rs12386117</li>	2
Q9Y4B6	9730		<li>N->D at 267: in dbSNP:rs3749318</li><li>L->F at 378: in dbSNP:rs17712228</li><li>L->P at 1031: in dbSNP:rs9835229</li>									<li>rs17712228</li><li>rs9835229</li><li>rs3749318</li>	2
Q9Y4C4			<li>L->V at 163: in dbSNP:rs34984230</li><li>P->L at 892: in dbSNP:rs429433</li>									<li>rs429433</li><li>rs34984230</li>	2
Q9Y4C8	9904		<li>R->H at 609: in dbSNP:rs2290789</li><li>T->I at 623: in dbSNP:rs2290788</li><li>A->T at 665: in dbSNP:rs2290787</li><li>R->Q at 921: in dbSNP:rs2075387</li>									<li>rs2290789</li><li>rs2075387</li><li>rs2290788</li><li>rs2290787</li>	2
Q9Y4D2	747		<li>G->V at 735: in dbSNP:rs35056845</li><li>P->L at 889: in dbSNP:rs3741252</li><li>D->E at 945: in dbSNP:rs34956386</li>									<li>rs3741252</li><li>rs34956386</li><li>rs35056845</li>	2
Q9Y4D7	23129		<li>M->V at 870: in dbSNP:rs2255703</li>									rs2255703	2
Q9Y4F1	10160		<li>P->L at 8: in dbSNP:rs9300466</li><li>R->L at 714: in a breast cancer sample; somatic mutation</li>									rs9300466	2
Q9Y4F4	23116		<li>E->Q at 416: in dbSNP:rs3825629</li><li>L->V at 511: in dbSNP:rs3742591</li>									<li>rs3742591</li><li>rs3825629</li>	2
Q9Y4F9	9750		<li>A->G at 145: in dbSNP:rs11967003</li><li>V->M at 320: in dbSNP:rs35331811</li><li>E->K at 424: in dbSNP:rs34016544</li><li>S->C at 452: in dbSNP:rs34298086</li><li>E->K at 495: in dbSNP:rs35514577</li><li>R->C at 520: in dbSNP:rs35780910</li>									<li>rs35780910</li><li>rs35514577</li><li>rs34016544</li><li>rs11967003</li><li>rs35331811</li><li>rs34298086</li>	2
Q9Y4G2	9842		<li>R->H at 377: in dbSNP:rs1859059</li>									rs1859059	2
Q9Y4G6	83660		<li>V->A at 340: in dbSNP:rs11634784</li><li>A->S at 1148: in dbSNP:rs2280279</li><li>V->I at 1877: in dbSNP:rs7182971</li><li>T->I at 2144: in dbSNP:rs11633796</li><li>F->L at 2266: in dbSNP:rs3816988</li>									<li>rs7182971</li><li>rs3816988</li><li>rs2280279</li><li>rs11634784</li><li>rs11633796</li>	2
Q9Y4H2	8660		<li>H->Y at 789: in dbSNP:rs35223808</li><li>G->S at 879</li><li>G->A at 882</li><li>V->M at 999: in dbSNP:rs35927012</li><li>G->D at 1057: in dbSNP:rs1805097</li>									<li>rs35927012</li><li>rs1805097</li><li>rs35223808</li>	2
Q9Y4I1	4644		<li>R->C at 1246: in dbSNP rsrs1058219</li>									rs1058219	2
Q9Y4I5	9633		<li>C->R at 223: in dbSNP:rs12365708</li>									rs12365708	2
Q9Y4J8	1837		<li>P->L at 121: in LVNC1 and LVNCCHD, MIM: 606617</li><li>A->E at 180: in dbSNP:rs1048081, MIM: 606617</li>								<li>Non-compaction of left ventricular myocardium with congenital heart defects (LVNCCHD) [MIM:606617]</li><li>Non-compaction of left ventricular myocardium isolated autosomal dominant type 1 (LVNC1) [MIM:604169]</li>	rs1048081	2
Q9Y4K0	4017		<li>S->R at 308: in dbSNP:rs4871866</li><li>S->W at 359: in dbSNP:rs4602894</li><li>M->L at 570: in dbSNP:rs1063582</li>									<li>rs1063582</li><li>rs4871866</li><li>rs4602894</li>	2
Q9Y4L5	27246		<li>G->R at 194: in dbSNP:rs11577731</li>									rs11577731	2
Q9Y4P3	26608		<li>V->I at 345: in dbSNP:rs35607697</li>									rs35607697	2
Q9Y4R7	26140		<li>E->K at 174: in dbSNP:rs3806669</li><li>N->H at 418: in dbSNP:rs2290302</li><li>G->S at 454: in a colorectal cancer sample; somatic mutation</li><li>M->I at 476: in a colorectal cancer sample; somatic mutation</li><li>M->R at 502: in dbSNP:rs2290305</li><li>A->T at 689: in dbSNP:rs1057278</li>									<li>rs2290305</li><li>rs1057278</li><li>rs2290302</li><li>rs3806669</li>	2
Q9Y4R8	9894		<li>E->G at 7: in dbSNP:rs2667661</li><li>Q->R at 146: in dbSNP:rs2235624</li><li>Q->R at 674: in dbSNP:rs2248128</li>									<li>rs2235624</li><li>rs2667661</li><li>rs2248128</li>	2
Q9Y4U1	25974		<li>Q->R at 27: in MMACHC, MIM: 277400</li><li>L->P at 116: in MMACHC, MIM: 277400</li><li>H->R at 122: in MMACHC, MIM: 277400</li><li>Y->H at 130: in MMACHC, MIM: 277400</li><li>G->A at 147: in MMACHC, MIM: 277400</li><li>G->D at 147: in MMACHC, MIM: 277400</li><li>G->D at 156: in MMACHC, MIM: 277400</li><li>W->C at 157: in MMACHC, MIM: 277400</li><li>R->G at 161: in MMACHC, MIM: 277400</li><li>R->Q at 161: in MMACHC, MIM: 277400</li><li>R->S at 189: in MMACHC, MIM: 277400</li><li>L->P at 193: in MMACHC, MIM: 277400</li><li>R->P at 206: in MMACHC, MIM: 277400</li><li>R->W at 206: in MMACHC, MIM: 277400</li><li>S->G at 271: in dbSNP:rs35219601, MIM: 277400</li>							<li>Q9Y4U1</li><li>Q5ZL21</li><li>Q5E9C8</li>	Methylmalonic aciduria and homocystinuria type cblC (MMACHC) [MIM:277400]	rs35219601	2
Q9Y4W2	81887		<li>R->C at 170: in a colorectal cancer sample; somatic mutation</li>										2
Q9Y4X1	10941		<li>G->R at 308: in dbSNP:rs4148301</li>									rs4148301	2
Q9Y4X3	10850		<li>I->V at 78: in dbSNP:rs11575594</li><li>L->F at 96: in dbSNP:rs11575584</li>									<li>rs11575584</li><li>rs11575594</li>	2
Q9Y4Z2			<li>R->L at 93: in DIAR4; attenuated NEUROG3 function in vivo, MIM: 610370</li><li>R->S at 107: in DIAR4; attenuated NEUROG3 function in vivo, MIM: 610370</li><li>F->S at 199: in dbSNP:rs4536103, MIM: 610370</li>							Q9Y4Z2	Congenital malabsorptive diarrhea 4 (DIAR4) [MIM:610370]	rs4536103	2
Q9Y512	25813		<li>I->V at 345: in dbSNP:rs8418</li>									rs8418	2
Q9Y520	23215		<li>A->T at 235: in dbSNP:rs10913157</li><li>N->K at 343: in dbSNP:rs36013361</li><li>E->G at 468: in dbSNP:rs704839</li><li>T->A at 906: in dbSNP:rs760644</li><li>P->S at 959: in dbSNP:rs34269512</li><li>S->C at 1624: in dbSNP:rs235468</li><li>P->S at 1771: in dbSNP:rs1687056</li><li>L->R at 1868: in dbSNP:rs3820169</li><li>A->T at 1885: in dbSNP:rs12025905</li><li>P->R at 1924: in dbSNP:rs183523</li>									<li>rs235468</li><li>rs12025905</li><li>rs1687056</li><li>rs36013361</li><li>rs3820169</li><li>rs760644</li><li>rs704839</li><li>rs10913157</li><li>rs34269512</li><li>rs183523</li>	2
Q9Y561	29967		<li>S->G at 694: in dbSNP:rs16871494</li>									rs16871494	2
Q9Y566	50944		<li>A->V at 6: in dbSNP:rs10423744</li><li>A->D at 569: in a colorectal cancer sample; somatic mutation</li><li>V->A at 1504: in dbSNP:rs3745521</li><li>G->R at 2026: in a colorectal cancer sample; somatic mutation</li>									<li>rs3745521</li><li>rs10423744</li>	2
Q9Y573	3652		<li>K->R at 264: in dbSNP:rs28375469</li>									rs28375469	2
Q9Y574	51666		<li>V->L at 17: in dbSNP:rs35047380</li>									rs35047380	2
Q9Y581	11172		<li>F->L at 80: in dbSNP:rs2149554</li>									rs2149554	2
Q9Y585	26189		<li>G->C at 256: in dbSNP:rs2241091</li><li>R->C at 260: in dbSNP:rs2469791</li><li>W->C at 293: in dbSNP:rs12150427</li>									<li>rs2241091</li><li>rs2469791</li><li>rs12150427</li>	2
Q9Y597	51133		<li>F->V at 9: in dbSNP:rs2275768</li>									rs2275768	2
Q9Y5A9	51441		<li>T->S at 217: in dbSNP:rs16838382</li><li>P->S at 454: in dbSNP:rs35288745</li>									<li>rs35288745</li><li>rs16838382</li>	2
Q9Y5B0	9150		<li>T->M at 340: in dbSNP:rs2279103</li><li>L->S at 755: in dbSNP:rs34967023</li>									<li>rs2279103</li><li>rs34967023</li>	2
Q9Y5C1	27329		<li>N->Y at 418: in dbSNP:rs4145257</li>									rs4145257	2
Q9Y5E2	56129		<li>E->K at 120: in dbSNP:rs17286891</li><li>E->K at 187: in dbSNP:rs17096946</li><li>V->L at 389: in dbSNP:rs2910313</li>									<li>rs17096946</li><li>rs17286891</li><li>rs2910313</li>	2
Q9Y5E3	56130		<li>V->I at 231: in dbSNP:rs3776096</li><li>L->F at 232: in dbSNP:rs10076554</li><li>H->Q at 636: in dbSNP:rs246703</li><li>Y->H at 747: in dbSNP:rs17685621</li>									<li>rs246703</li><li>rs10076554</li><li>rs17685621</li><li>rs3776096</li>	2
Q9Y5E4	26167		<li>I->T at 156: in dbSNP:rs17096901</li><li>S->P at 720: in dbSNP:rs400562</li>									<li>rs400562</li><li>rs17096901</li>	2
Q9Y5E5	56131		<li>K->R at 168: in dbSNP:rs34350292</li><li>P->L at 255: in dbSNP:rs3733697</li><li>P->S at 255: in dbSNP:rs3733698</li><li>A->T at 421: in dbSNP:rs3776099</li><li>T->A at 553: in dbSNP:rs246669</li>									<li>rs3733698</li><li>rs246669</li><li>rs3776099</li><li>rs3733697</li><li>rs34350292</li>	2
Q9Y5E6	56132		<li>K->R at 41: in dbSNP:rs31849</li><li>E->K at 207: in dbSNP:rs12515688</li><li>R->S at 414: in dbSNP:rs3733699</li>									<li>rs31849</li><li>rs3733699</li><li>rs12515688</li>	2
Q9Y5E7	56133		<li>V->I at 128: in dbSNP:rs31853</li><li>L->P at 674: in dbSNP:rs384081</li><li>G->D at 760: in dbSNP:rs1047372</li>									<li>rs384081</li><li>rs31853</li><li>rs1047372</li>	2
Q9Y5E8	56121		<li>S->R at 474: in dbSNP:rs618506</li><li>R->Q at 494: in dbSNP:rs618096</li><li>A->V at 719: in a breast cancer sample; somatic mutation</li><li>G->V at 758: in a breast cancer sample; somatic mutation</li>									<li>rs618506</li><li>rs618096</li>	2
Q9Y5F1	56124		<li>T->I at 420: in dbSNP:rs2910327</li><li>K->E at 763: in dbSNP:rs2910006</li>									<li>rs2910006</li><li>rs2910327</li>	2
Q9Y5F2	56125		<li>Q->R at 4: in dbSNP:rs3756323</li><li>R->H at 7: in dbSNP:rs917535</li>									<li>rs917535</li><li>rs3756323</li>	2
Q9Y5F3	29930		<li>F->L at 385: in dbSNP:rs2233591</li><li>L->F at 390: in dbSNP:rs2233592</li><li>A->V at 524: in dbSNP:rs17208383</li><li>T->I at 611: in dbSNP:rs10476822</li><li>I->T at 712: in dbSNP:rs31738</li><li>K->I at 719: in dbSNP:rs2233595</li><li>F->L at 778: in dbSNP:rs246679</li>									<li>rs17208383</li><li>rs246679</li><li>rs2233591</li><li>rs2233592</li><li>rs31738</li><li>rs2233595</li><li>rs10476822</li>	2
Q9Y5F6	56097		<li>G->S at 275: in dbSNP:rs2233603</li><li>D->G at 570: in dbSNP:rs2074912</li>									<li>rs2074912</li><li>rs2233603</li>	2
Q9Y5F8	56099		<li>V->L at 405: in dbSNP:rs17208397</li>									rs17208397	2
Q9Y5F9	56100		<li>P->S at 684: in dbSNP:rs3749768</li><li>A->T at 722: in dbSNP:rs3749767</li><li>S->A at 775: in dbSNP:rs6891442</li>									<li>rs3749767</li><li>rs3749768</li><li>rs6891442</li>	2
Q9Y5G0	56101		<li>G->S at 188: in dbSNP:rs6867460</li>									rs6867460	2
Q9Y5G1	56102		<li>F->Y at 20: in dbSNP:rs6860590</li><li>N->K at 389: in dbSNP:rs2240697</li>									<li>rs2240697</li><li>rs6860590</li>	2
Q9Y5G2	56103		<li>P->R at 26: in dbSNP:rs17097231</li>									rs17097231	2
Q9Y5G4	56107		<li>L->F at 791: in dbSNP:rs17097274</li>									rs17097274	2
Q9Y5G5	9708		<li>L->R at 16: in dbSNP:rs726684</li>									rs726684	2
Q9Y5G6	56108		<li>E->G at 188: in dbSNP:rs2072315</li><li>L->F at 212: in dbSNP:rs2240698</li><li>T->M at 239: in dbSNP:rs17097251</li>									<li>rs2072315</li><li>rs17097251</li><li>rs2240698</li>	2
Q9Y5G7	56109		<li>R->S at 248: in dbSNP:rs11575953</li>									rs11575953	2
Q9Y5G9	56111		<li>A->T at 150: in dbSNP:rs11575949</li><li>R->K at 641: in dbSNP:rs4329068</li><li>D->H at 683: in dbSNP:rs11575951</li>									<li>rs11575949</li><li>rs4329068</li><li>rs11575951</li>	2
Q9Y5H1	56113		<li>Q->R at 5: in dbSNP:rs6878145</li>									rs6878145	2
Q9Y5H2	56105		<li>F->L at 104: in dbSNP:rs11167744</li>									rs11167744	2
Q9Y5H3	56106		<li>I->V at 89: in dbSNP:rs4912751</li><li>S->P at 796: in dbSNP:rs11575963</li>									<li>rs11575963</li><li>rs4912751</li>	2
Q9Y5H4	56114		<li>V->I at 152: in dbSNP:rs2472647</li><li>H->Q at 282: in dbSNP:rs17097185</li>									<li>rs2472647</li><li>rs17097185</li>	2
Q9Y5H5	9752		<li>S->R at 28: in dbSNP:rs251353</li><li>K->R at 138: in dbSNP:rs364101</li><li>L->V at 336: in dbSNP:rs251354</li><li>G->R at 430: in dbSNP:rs251355</li><li>K->T at 764: in dbSNP:rs369639</li>									<li>rs251355</li><li>rs251354</li><li>rs369639</li><li>rs251353</li><li>rs364101</li>	2
Q9Y5H6	56140		<li>S->N at 78: in dbSNP:rs3756331</li><li>P->R at 269: in dbSNP:rs525886</li><li>N->T at 403: in dbSNP:rs3733706</li>									<li>rs525886</li><li>rs3756331</li><li>rs3733706</li>	2
Q9Y5H7	56143		<li>A->V at 691: in dbSNP:rs4141841</li>									rs4141841	2
Q9Y5H8	56145		<li>I->T at 289: in dbSNP:rs3733709</li><li>I->V at 318: in dbSNP:rs3733708</li><li>S->I at 440: in dbSNP:rs7701755</li><li>C->Y at 759: in dbSNP:rs2240694</li>									<li>rs2240694</li><li>rs7701755</li><li>rs3733709</li><li>rs3733708</li>	2
Q9Y5H9	56146		<li>V->L at 106: in dbSNP:rs11167600</li><li>P->L at 764: in dbSNP:rs6858913</li>									<li>rs6858913</li><li>rs11167600</li>	2
Q9Y5I1	56138		<li>S->Y at 199: in dbSNP:rs10071369</li><li>W->S at 418: in dbSNP:rs17119218</li>									<li>rs17119218</li><li>rs10071369</li>	2
Q9Y5I2	56139		<li>S->R at 439: in dbSNP:rs251362</li><li>V->G at 585: in dbSNP:rs251364</li><li>T->A at 639: in dbSNP:rs630162</li>									<li>rs251362</li><li>rs251364</li><li>rs630162</li>	2
Q9Y5I3	56147		<li>R->G at 360: in dbSNP:rs34575154</li><li>N->H at 449: in dbSNP:rs3733712</li><li>Y->C at 732: in dbSNP:rs2240696</li><li>C->F at 759: in dbSNP:rs2240695</li>									<li>rs2240695</li><li>rs2240696</li><li>rs3733712</li><li>rs34575154</li>	2
Q9Y5I7	10686		<li>M->R at 71: in HOMG3, MIM: 248250</li><li>H->D at 141: in HOMG3, MIM: 248250</li><li>L->P at 145: in HOMG3, MIM: 248250</li><li>R->L at 149: in HOMG3, MIM: 248250</li><li>L->F at 151: in HOMG3, MIM: 248250</li><li>L->P at 151: in HOMG3, MIM: 248250</li><li>L->W at 151: in HOMG3, MIM: 248250</li><li>L->P at 167: in HOMG3, MIM: 248250</li><li>G->R at 191: in HOMG3, MIM: 248250</li><li>G->A at 198: in HOMG3, MIM: 248250</li><li>G->D at 198: in HOMG3, MIM: 248250</li><li>A->T at 209: in HOMG3, MIM: 248250</li><li>R->T at 216: in HOMG3, MIM: 248250</li><li>F->C at 232: in HOMG3, MIM: 248250</li><li>G->D at 233: in HOMG3, MIM: 248250</li><li>S->F at 235: in HOMG3, MIM: 248250</li><li>S->P at 235: in HOMG3, MIM: 248250</li><li>G->R at 239: in HOMG3, MIM: 248250</li>								Hypomagnesemia type 3 (HOMG3) [MIM:248250]		2
Q9Y5J5	23612		<li>R->Q at 28: in dbSNP:rs35383942</li>									rs35383942	2
Q9Y5J6	26515		<li>G->S at 90: in dbSNP:rs17850713</li>									rs17850713	2
Q9Y5K1	23626		<li>T->A at 36: in dbSNP:rs28368062</li><li>M->V at 91: in dbSNP:rs3736832</li><li>A->V at 202: in dbSNP:rs17406460</li><li>R->W at 211: in dbSNP:rs28368082</li>									<li>rs17406460</li><li>rs28368062</li><li>rs28368082</li><li>rs3736832</li>	2
Q9Y5K2	9622		<li>S->A at 22: in dbSNP:rs1654551</li><li>G->D at 159: in dbSNP:rs34626614</li><li>Q->H at 197: in dbSNP:rs2569527</li>									<li>rs34626614</li><li>rs1654551</li><li>rs2569527</li>	2
Q9Y5K6	23607		<li>N->K at 581: in dbSNP:rs34069459</li>									rs34069459	2
Q9Y5L3	954		<li>A->V at 103: in dbSNP:rs34618694</li>									rs34618694	2
Q9Y5N1	11255		<li>A->V at 280: in one Shy-Drager syndrome patient; rare variant with unknown pathological significance</li>										2
Q9Y5N6	23594		<li>R->W at 32: in dbSNP:rs3218744</li><li>P->Q at 138: in dbSNP:rs3218745</li>									<li>rs3218745</li><li>rs3218744</li>	2
Q9Y5P0	79339		<li>I->V at 36: in dbSNP:rs7118113</li><li>M->T at 147: in dbSNP:rs10837771</li>									<li>rs10837771</li><li>rs7118113</li>	2
Q9Y5P3	10742		<li>M->V at 252: in dbSNP:rs6527818</li><li>A->P at 342: in dbSNP:rs17855524</li>									<li>rs6527818</li><li>rs17855524</li>	2
Q9Y5P6	29925		<li>H->D at 126: in dbSNP:rs34345884</li><li>Q->R at 184: in dbSNP:rs1466685</li>									<li>rs34345884</li><li>rs1466685</li>	2
Q9Y5P8	28227		<li>D->E at 163: in dbSNP:rs3813594</li><li>A->V at 519: in dbSNP:rs1133520</li>									<li>rs3813594</li><li>rs1133520</li>	2
Q9Y5Q0	3995		<li>K->N at 192: in dbSNP:rs35479241</li><li>N->K at 216: in dbSNP:rs34511441</li>									<li>rs35479241</li><li>rs34511441</li>	2
Q9Y5Q6	10022		<li>Q->L at 50: in dbSNP:rs549148</li>									rs549148	2
Q9Y5Q8	9328		<li>D->N at 445: in dbSNP:rs637435</li>									rs637435	2
Q9Y5R4	51409		<li>R->Q at 192: in dbSNP:rs2232250</li><li>H->Q at 200: in dbSNP:rs2232251</li>									<li>rs2232251</li><li>rs2232250</li>	2
Q9Y5R6	1761		<li>S->T at 45: in dbSNP:rs3739583</li><li>Y->S at 221</li><li>R->S at 281</li><li>P->L at 295</li>									rs3739583	2
Q9Y5R8	58485		<li>R->G at 129: in a melanoma</li>										2
Q9Y5S1	51393		<li>G->A at 17: in dbSNP:rs3813768</li>									rs3813768	2
Q9Y5S2	9578		<li>K->E at 500: in a breast infiltrating ductal carcinoma sample; somatic mutation</li><li>R->Q at 555: in dbSNP rsrs36001612</li><li>R->Q at 671: in dbSNP rsrs55948035</li><li>R->W at 876: in a colorectal adenocarcinoma sample; somatic mutation</li><li>I->V at 1077: in dbSNP rsrs34822377</li><li>E->K at 1315: in a lung large cell carcinoma sample; somatic mutation</li><li>S->Y at 1633: in dbSNP rsrs56412851</li>									<li>rs55948035</li><li>rs56412851</li><li>rs36001612</li><li>rs34822377</li>	2
Q9Y5S8	27035		<li>R->H at 315: in dbSNP:rs2071756</li><li>R->K at 378: in dbSNP:rs35404864</li>									<li>rs35404864</li><li>rs2071756</li>	2
Q9Y5T4	29103		<li>R->G at 35: in dbSNP:rs11617079</li>									rs11617079	2
Q9Y5U5	8784		<li>T->R at 43: in dbSNP:rs11466676</li><li>E->K at 64: in dbSNP:rs11466687</li><li>D->N at 83: in dbSNP:rs11466688</li><li>V->M at 173: in dbSNP:rs11466693</li>									<li>rs11466693</li><li>rs11466676</li><li>rs11466688</li><li>rs11466687</li>	2
Q9Y5U8	51660		<li>L->I at 36: in dbSNP:rs11557064</li>									rs11557064	2
Q9Y5W3	10365		<li>L->P at 104: in dbSNP:rs3745318</li><li>R->P at 145: in dbSNP rsrs45586032</li>									<li>rs3745318</li><li>rs45586032</li>	2
Q9Y5X0	29887		<li>S->I at 187: in dbSNP:rs1053042</li>									rs1053042	2
Q9Y5X2	29886		<li>A->G at 147: in a colorectal cancer sample; somatic mutation</li>										2
Q9Y5X4	10002		<li>G->R at 56: in RP37, MIM: 611131</li><li>Missing  at 67-69: in ESCS, MIM: 611131</li><li>R->Q at 76: in ESCS, MIM: 268100</li><li>R->W at 76: in ESCS, MIM: 268100</li><li>G->V at 88: in ESCS, MIM: 268100</li><li>R->H at 97: in ESCS, MIM: 268100</li><li>R->W at 104: in ESCS, MIM: 268100</li><li>E->K at 121: in ESCS, MIM: 268100</li><li>E->G at 140: in dbSNP:rs1805020, MIM: 268100</li><li>M->T at 163: in dbSNP:rs1805021, MIM: 268100</li><li>V->I at 232: in dbSNP:rs1805023, MIM: 268100</li><li>W->S at 234: in ESCS, MIM: 268100</li><li>A->E at 256: in ESCS, MIM: 268100</li><li>L->P at 263: in ESCS, MIM: 268100</li><li>V->I at 302: in dbSNP:rs1805025, MIM: 268100</li><li>R->G at 309: in ESCS, MIM: 268100</li><li>R->Q at 311: in ESCS; hinders the ability to form stable dimers; dbSNP:rs28937873, MIM: 268100</li><li>L->P at 336: in ESCS, MIM: 268100</li><li>L->V at 353: in ESCS, MIM: 268100</li><li>R->P at 385: in ESCS, MIM: 268100</li><li>M->K at 407: in ESCS, MIM: 268100</li>							P32827	<li>Enhanced S cone syndrome (ESCS) [MIM:268100]</li><li>Retinitis pigmentosa type 37 (RP37) [MIM:611131]</li>	<li>rs1805025</li><li>rs1805023</li><li>rs1805021</li><li>rs1805020</li><li>rs28937873</li>	2
Q9Y5X9	9388		<li>G->S at 26: in dbSNP:rs9963243</li><li>G->S at 96</li><li>T->I at 111: in dbSNP:rs2000813</li><li>R->H at 312</li>									<li>rs9963243</li><li>rs2000813</li>	2
Q9Y5Y0	28982		<li>A->P at 52: in dbSNP:rs11120047</li><li>T->M at 544: in dbSNP:rs3207090</li>									<li>rs11120047</li><li>rs3207090</li>	2
Q9Y5Y2	10101		<li>P->S at 250: in dbSNP:rs35030308</li><li>T->M at 266: in dbSNP:rs34028164</li>									<li>rs35030308</li><li>rs34028164</li>	2
Q9Y5Y3	11250		<li>S->C at 7: in a breast cancer sample; somatic mutation</li><li>L->F at 312: in dbSNP:rs35946826</li>									rs35946826	2
Q9Y5Y5	9409		<li>V->M at 103: in dbSNP:rs11553094</li><li>V->L at 254: in dbSNP:rs35214605</li>									<li>rs11553094</li><li>rs35214605</li>	2
Q9Y5Y7	10894		<li>W->R at 116: in dbSNP:rs17852369</li><li>T->I at 214: in dbSNP:rs16907980</li><li>V->M at 315: in dbSNP:rs7948666</li>									<li>rs7948666</li><li>rs17852369</li><li>rs16907980</li>	2
Q9Y5Y9	6336		<li>S->P at 509: in dbSNP:rs7630989</li><li>G->R at 590: in dbSNP:rs35332705</li><li>V->A at 1073: in dbSNP:rs6795970</li><li>L->P at 1092: in dbSNP:rs12632942</li><li>M->V at 1713: in dbSNP:rs6599241</li>									<li>rs6599241</li><li>rs12632942</li><li>rs6795970</li><li>rs7630989</li><li>rs35332705</li>	2
Q9Y5Z4	23593		<li>R->Q at 140: in dbSNP:rs3734303</li><li>E->A at 191: in dbSNP:rs14812</li>									<li>rs14812</li><li>rs3734303</li>	2
Q9Y5Z7	29915		<li>A->S at 46: in dbSNP:rs2700500</li><li>G->A at 268: in dbSNP:rs17035206</li>									<li>rs2700500</li><li>rs17035206</li>	2
Q9Y5Z9	29914		<li>S->F at 75</li><li>N->S at 102: in SCCD, MIM: 121800</li><li>D->G at 112: in SCCD, MIM: 121800</li><li>D->G at 118: in SCCD, MIM: 121800</li><li>R->G at 119: in SCCD, MIM: 121800</li><li>L->F at 121: in SCCD, MIM: 121800</li><li>S->P at 171: in SCCD, MIM: 121800</li><li>T->I at 175: in SCCD, MIM: 121800</li><li>G->R at 177: in SCCD, MIM: 121800</li><li>G->R at 186: in SCCD, MIM: 121800</li><li>N->S at 232: in SCCD, MIM: 121800</li><li>D->E at 236: in SCCD, MIM: 121800</li>								Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]		2
Q9Y603	51513		<li>H->Y at 138: in dbSNP:rs9470262</li><li>G->S at 199: in dbSNP:rs34306145</li><li>P->L at 212: in dbSNP:rs2234079</li><li>A->V at 250: in dbSNP:rs2234080</li>									<li>rs9470262</li><li>rs34306145</li><li>rs2234079</li><li>rs2234080</li>	2
Q9Y606	80324		<li>D->N at 133: in a breast cancer sample; somatic mutation</li><li>R->W at 144: in MLSA</li>										2
Q9Y608	9209		<li>K->E at 143: in dbSNP:rs34902788</li>									rs34902788	2
Q9Y615	10881		<li>R->C at 45</li><li>A->P at 161: in dbSNP:rs35995497</li><li>V->M at 340: in dbSNP:rs7872077</li>									<li>rs7872077</li><li>rs35995497</li>	2
Q9Y616	11213		<li>P->L at 22: may be associated with ASRT5</li><li>H->R at 57: in dbSNP:rs35239505</li><li>G->S at 84: in dbSNP rsrs34443407</li><li>P->A at 111: may be associated with ASRT5</li><li>V->M at 134: may be associated with ASRT5</li><li>V->I at 147: in dbSNP:rs1152888</li><li>I->V at 171: in dbSNP:rs34682166</li><li>G->S at 269: in dbSNP:rs35823766</li><li>I->V at 270: in dbSNP:rs11465972</li><li>S->L at 288: in dbSNP:rs35574245</li><li>R->Q at 384: in dbSNP rsrs34272472</li><li>M->T at 391: in dbSNP rsrs35737689</li><li>L->V at 400: may be associated with ASRT5</li><li>R->Q at 429: may be associated with ASRT5</li><li>D->N at 482: in dbSNP rsrs35756811</li>									<li>rs35737689</li><li>rs34682166</li><li>rs11465972</li><li>rs35239505</li><li>rs35574245</li><li>rs34443407</li><li>rs34272472</li><li>rs35756811</li><li>rs35823766</li><li>rs1152888</li>	2
Q9Y617	29968		<li>P->A at 87: in dbSNP:rs11540974</li><li>D->A at 100: in PSATD; reduced Vmax, MIM: 610992</li>								Phosphoserine aminotransferase deficiency (PSATD) [MIM:610992]	rs11540974	2
Q9Y619	10166		<li>G->E at 27: in HHH syndrome, MIM: 238970</li><li>G->R at 27: in HHH syndrome, MIM: 238970</li><li>P->R at 126: in HHH syndrome, MIM: 238970</li><li>E->K at 180: in HHH syndrome, MIM: 238970</li><li>Missing  at 188: in HHH syndrome, MIM: 238970</li><li>G->D at 190: in HHH syndrome, MIM: 238970</li><li>I->L at 254: in dbSNP rsrs17849654, MIM: 238970</li><li>R->Q at 275: in HHH syndrome, MIM: 238970</li>								Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]	rs17849654	2
Q9Y620	25788		<li>L->V at 30: in dbSNP:rs28910279</li><li>D->H at 97: in dbSNP:rs2919661</li><li>D->Y at 418: in colon cancer</li><li>N->S at 593: in lymphoma; non-Hodgkin's</li>									<li>rs2919661</li><li>rs28910279</li>	2
Q9Y623	4622		<li>A->T at 594: in dbSNP:rs12949680</li><li>T->M at 883: in dbSNP:rs3744558</li><li>I->M at 1106: in dbSNP:rs917361</li><li>A->D at 1117: in dbSNP:rs16943441</li><li>E->K at 1209: in dbSNP:rs11651295</li><li>D->G at 1802: in dbSNP:rs2277649</li><li>K->E at 1911: in dbSNP:rs3744554</li>									<li>rs3744554</li><li>rs11651295</li><li>rs12949680</li><li>rs2277649</li><li>rs917361</li><li>rs3744558</li><li>rs16943441</li>	2
Q9Y625	10082		<li>V->M at 412: in dbSNP:rs1535692</li>									rs1535692	2
Q9Y646	10404		<li>S->N at 138: in dbSNP:rs34088584</li>									rs34088584	2
Q9Y651	11166		<li>G->R at 230: in dbSNP:rs6492735</li>									rs6492735	2
Q9Y653	9289		<li>R->W at 38: in BFPP, MIM: 606854</li><li>Y->C at 88: in BFPP, MIM: 606854</li><li>C->S at 91: in BFPP, MIM: 606854</li><li>S->R at 281: in dbSNP:rs1801257, MIM: 606854</li><li>Q->H at 306: in dbSNP:rs1801255, MIM: 606854</li><li>C->S at 346: in BFPP, MIM: 606854</li><li>M->T at 493: in dbSNP:rs17379472, MIM: 606854</li><li>P->L at 527: in dbSNP:rs16958679, MIM: 606854</li><li>R->W at 565: in BFPP, MIM: 606854</li>								Bilateral frontoparietal polymicrogyria (BFPP) [MIM:606854]	<li>rs1801257</li><li>rs1801255</li><li>rs16958679</li><li>rs17379472</li>	2
Q9Y657	10927		<li>A->P at 221: in dbSNP:rs34794905</li>									rs34794905	2
Q9Y666	10723		<li>A->T at 408: in dbSNP:rs4526148</li>									rs4526148	2
Q9Y672	29929		<li>Y->H at 131: in CDG1C: in dbSNP rsrs35383149, MIM: 603147</li><li>S->I at 170: in CDG1C, MIM: 603147</li><li>G->E at 227: in CDG1C, MIM: 603147</li><li>Missing  at 299: in CDG1C, MIM: 603147</li><li>F->S at 304: common polymorphism; reduces the ability to rescue defective glycosylation of an alg6-deficient strain of S. cerevisiae during rapid growth; may exacerbate the clinical severity of patients with CDG1A; dbSNP:rs4630153, MIM: 603147</li><li>S->R at 308: in CDG1C, MIM: 603147</li><li>A->V at 333: in CDG1C, MIM: 603147</li><li>Missing  at 444: in CDG1C, MIM: 603147</li><li>S->P at 478: in CDG1C, MIM: 603147</li>								Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147]	<li>rs4630153</li><li>rs35383149</li>	2
Q9Y676	28973		<li>P->A at 230: in dbSNP:rs34315095</li>									rs34315095	2
Q9Y692	10691		<li>V->A at 14: in dbSNP:rs11557120</li>									rs11557120	2
Q9Y694	10864		<li>R->K at 303</li><li>R->W at 327: in dbSNP rsrs36040909</li><li>G->V at 507</li>									rs36040909	2
Q9Y6A1	10585		<li>G->R at 76: in WWS: in dbSNP rsrs28941782, MIM: 236670</li><li>A->P at 200: in LGMD2K; a common founder mutation, MIM: 609308</li><li>R->Q at 251: in dbSNP:rs2296949, MIM: 609308</li><li>R->W at 251: in dbSNP:rs3887873, MIM: 609308</li><li>V->I at 327: in dbSNP:rs4740164, MIM: 609308</li><li>Missing  at 421: in WWS; associated with the loss of function of alpha dystroglycan as a matrix receptor, MIM: 609308</li><li>V->D at 428: in WWS, MIM: 236670</li><li>D->E at 433: in dbSNP:rs11243406, MIM: 236670</li><li>S->R at 537: in WWS, MIM: 236670</li>							<li>Q9TSZ6</li><li>Q28685</li><li>O18738</li><li>Q62165</li><li>Q14118</li>	<li>Limb-girdle muscular dystrophy type 2K (LGMD2K) [MIM:609308]</li><li>Walker-Warburg syndrome (WWS) [MIM:236670]</li>	<li>rs4740164</li><li>rs2296949</li><li>rs11243406</li><li>rs28941782</li><li>rs3887873</li>	2
Q9Y6A5	10460		<li>E->K at 143: in dbSNP:rs34205238</li><li>C->Y at 275: in dbSNP:rs17132047</li><li>G->S at 287: in dbSNP:rs1063743</li><li>G->E at 514: in dbSNP:rs17680881</li>									<li>rs34205238</li><li>rs1063743</li><li>rs17680881</li><li>rs17132047</li>	2
Q9Y6B6	51128		<li>G->R at 37: in ANDD; loss of GDP/GTP-binding, MIM: 607689</li><li>D->N at 137: in CMRD; reduced affinity for GDP/GTP: in dbSNP rsrs28942109, MIM: 246700</li><li>S->R at 179: in CMRD; loss of GDP/GTP-binding: in dbSNP rsrs28942110, MIM: 246700</li>			GTP-binding	GO:0005525				<li>Anderson disease (ANDD) [MIM:607689]</li><li>Chylomicron retention disease (CMRD) [MIM:246700]</li>	<li>rs28942110</li><li>rs28942109</li>	2
Q9Y6B7	10717		<li>L->S at 480: in dbSNP:rs1217401</li>									rs1217401	2
Q9Y6C2	11117		<li>Q->R at 149: in dbSNP:rs2736976</li><li>Q->R at 536: in dbSNP:rs36069611</li><li>E->K at 903: in dbSNP:rs36045790</li>									<li>rs36069611</li><li>rs36045790</li><li>rs2736976</li>	2
Q9Y6C5	8643		<li>E->Q at 346: in dbSNP:rs11573578</li><li>E->K at 493: in dbSNP:rs11573581</li><li>H->Y at 622: in dbSNP:rs11573586</li><li>T->M at 988: in dbSNP:rs11573590</li><li>V->M at 995: in dbSNP:rs11573591</li><li>V->M at 1019: in dbSNP:rs11573591</li><li>I->M at 1121: in dbSNP:rs11573598</li>									<li>rs11573578</li><li>rs11573586</li><li>rs11573591</li><li>rs11573598</li><li>rs11573590</li><li>rs11573581</li>	2
Q9Y6C9	23788		<li>R->S at 68: in dbSNP:rs34072236</li><li>P->A at 290: in dbSNP:rs1064608</li>									<li>rs1064608</li><li>rs34072236</li>	2
Q9Y6D0	58515		<li>R->S at 50: in dbSNP:rs11562</li>									rs11562	2
Q9Y6D5	10564		<li>E->K at 209: in PVNH2; dbSNP:rs28937880, MIM: 608097</li><li>A->V at 527: in dbSNP:rs6063343, MIM: 608097</li><li>K->E at 794: in a breast cancer sample; somatic mutation, MIM: 608097</li>								Autosomal recessive periventricular nodular heterotopia type 2 (PVNH2) [MIM:608097]	<li>rs6063343</li><li>rs28937880</li>	2
Q9Y6D6	10565		<li>D->Y at 273: in dbSNP:rs4321984</li><li>G->E at 316: in a colorectal cancer sample; somatic mutation</li>									rs4321984	2
Q9Y6D9	8379		<li>S->L at 29: in a lymphoid cancer cell line; somatic mutation</li><li>R->C at 59: in a prostate cancer cell line; somatic mutation: in dbSNP rsrs28939694</li><li>N->S at 160</li><li>T->A at 299: in lung cancer cell line; somatic mutation</li><li>R->Q at 360: in a prostate cancer cell line; somatic mutation</li><li>T->M at 500</li><li>E->K at 511</li><li>E->K at 516: in a breast cancer cell line; somatic mutation</li><li>R->C at 556: in a prostate cancer cell line; somatic mutation</li><li>R->H at 556: in one individual with lung cancer</li><li>R->H at 558: in a cancer cell line; dbSNP:rs1801368</li><li>E->K at 569: in a breast cancer cell line; somatic mutation</li><li>R->H at 572: in a cancer cell line: in dbSNP rsrs1801500</li>									<li>rs1801500</li><li>rs1801368</li><li>rs28939694</li>	2
Q9Y6E2	28969		<li>D->A at 44: in dbSNP:rs35233079</li>									rs35233079	2
Q9Y6G1	28978		<li>C->R at 37: in dbSNP:rs11543266</li>									rs11543266	2
Q9Y6G9	51143		<li>Q->R at 277: in dbSNP:rs2303857</li>									rs2303857	2
Q9Y6H1	51142		<li>H->N at 78: in dbSNP:rs11546418</li>									rs11546418	2
Q9Y6H5	9627		<li>E->G at 235: in dbSNP:rs6867105</li><li>R->C at 621: in PD; reduced number of cytoplasmic inclusions in cells expressing C-621 compared with cells expressing wild-type : in dbSNP rsrs28937592, MIM: 168600</li>								Parkinson disease (PD) [MIM:168600]	<li>rs28937592</li><li>rs6867105</li>	2
Q9Y6H8			<li>L->S at 11: in cataract; autosomal dominant congenital/infantile "ant-egg" cataract</li><li>F->L at 32: in CZP3, MIM: 601885</li><li>W->S at 45: in nuclear progressive cataract, MIM: 601885</li><li>P->L at 59: in cataract; autosomal dominant nuclear punctate cataract, MIM: 601885</li><li>N->S at 63: in CZP3, MIM: 601885</li><li>R->H at 76: in CZP3; not fully penetrant mutation, MIM: 601885</li><li>P->L at 187: in CZP3, MIM: 601885</li><li>M->L at 299: in dbSNP:rs968566, MIM: 601885</li>								Zonular pulverulent cataract type 3 (CZP3) [MIM:601885]	rs968566	2
Q9Y6I4	9960		<li>P->T at 360: in dbSNP:rs34776764</li>									rs34776764	2
Q9Y6I7	26118		<li>L->S at 16: in dbSNP:rs9303634</li>									rs9303634	2
Q9Y6I8	11264		<li>V->I at 204: in dbSNP:rs910397</li>									rs910397	2
Q9Y6J3			<li>K->N at 85: in dbSNP:rs3764941</li>									rs3764941	2
Q9Y6L6	10599		<li>F->L at 73: results in low levels of expression and decreased transport activity: in dbSNP rsrs56101265</li><li>V->A at 82: decreased transport activity: in dbSNP rsrs56061388</li><li>N->D at 130: in dbSNP rsrs2306283</li><li>R->K at 152</li><li>P->T at 155: decreased transport activity: in dbSNP rsrs11045819</li><li>E->G at 156: decreased transport activity</li><li>V->A at 174: decreased transport activity: in dbSNP rsrs4149056</li><li>L->R at 193: strongly decreases expression at the plasma membrane; abolishes transport activity</li><li>D->N at 241</li><li>I->T at 353: decreased transport activity: in dbSNP rsrs55901008</li><li>N->D at 432: in dbSNP rsrs56387224</li><li>D->G at 462</li><li>G->A at 488: decreased transport activity: in dbSNP rsrs59502379</li><li>D->G at 655: decreased transport activity: in dbSNP rsrs56199088</li><li>E->G at 667: in dbSNP rsrs55737008</li>	transport	GO:0006810			plasma membrane	GO:0005886			<li>rs11045819</li><li>rs56387224</li><li>rs2306283</li><li>rs56101265</li><li>rs4149056</li><li>rs55737008</li><li>rs55901008</li><li>rs56199088</li><li>rs56061388</li><li>rs59502379</li>	2
Q9Y6M0	10942		<li>R->Q at 264: in dbSNP:rs2072273</li>									rs2072273	2
Q9Y6M9	4715		<li>P->S at 146: in dbSNP:rs10195</li>									rs10195	2
Q9Y6N1	1353		<li>P->L at 74: in dbSNP:rs34080917</li>									rs34080917	2
Q9Y6N3	9629		<li>Y->T at 84: requires 2 nucleotide substitutions; dbSNP:rs2292830</li><li>I->T at 104: in dbSNP:rs2292829</li>									rs2292829	2
Q9Y6N5	58472		<li>I->T at 264: in dbSNP:rs1044032</li>									rs1044032	2
Q9Y6N7	6091		<li>V->A at 336: in dbSNP:rs9647397</li><li>S->N at 1055: in breast cancer</li><li>S->N at 1091: in dbSNP:rs35456279</li><li>E->D at 1533: in breast cancer: in dbSNP rsrs36055689</li>									<li>rs36055689</li><li>rs35456279</li><li>rs9647397</li>	2
Q9Y6N8	1008		<li>V->L at 371: in a breast cancer sample; somatic mutation</li><li>S->F at 413: in dbSNP:rs1395027</li>									rs1395027	2
Q9Y6N9	10083		<li>E->D at 519: in dbSNP:rs1064074</li>									rs1064074	2
Q9Y6P5	27244		<li>L->I at 44: in dbSNP:rs2273668</li>									rs2273668	2
Q9Y6Q1	827		<li>V->L at 277: in dbSNP:rs12013711</li><li>G->R at 358: in a colorectal cancer sample; somatic mutation</li><li>T->I at 518: in dbSNP:rs12851517</li>									<li>rs12851517</li><li>rs12013711</li>	2
Q9Y6Q2	11037		<li>K->N at 8: in dbSNP:rs17039250</li><li>R->T at 127: in dbSNP:rs940389</li><li>Q->H at 544: in dbSNP:rs3828341</li><li>Q->H at 607: in dbSNP:rs3792234</li>									<li>rs3792234</li><li>rs17039250</li><li>rs940389</li><li>rs3828341</li>	2
Q9Y6Q6	8792		<li>L->LALLLLCALL at 21: in PDB2</li><li>L->LLLCALL at 21: in FEO</li><li>G->R at 53: in OPTB7; two patients with osteoclast-poor osteopetrosis, MIM: 612301</li><li>R->C at 129: in OPTB7; a patient with osteoclast-poor osteopetrosis, MIM: 612301</li><li>H->Y at 141: in dbSNP:rs35211496, MIM: 612301</li><li>R->G at 170: in OPTB7; two siblings with osteoclast-poor osteopetrosis, MIM: 612301</li><li>C->R at 175: in OPTB7; two patients with osteoclast-poor osteopetrosis, MIM: 612301</li><li>A->V at 192: in dbSNP:rs1805034, MIM: 612301</li><li>A->S at 244: in OPTB7; one patient with osteoclast-poor osteopetrosis, MIM: 612301</li>								Osteopetrosis autosomal recessive type 7 (OPTB7) [MIM:612301]	<li>rs1805034</li><li>rs35211496</li>	2
Q9Y6R7	8857		<li>V->A at 732: in dbSNP:rs34181317</li><li>N->S at 770: in dbSNP:rs34939346</li><li>G->R at 929: in dbSNP:rs35338934</li><li>V->M at 971: in dbSNP:rs35922811</li><li>G->R at 1019: in dbSNP:rs34254649</li><li>V->L at 1340: in dbSNP:rs11083543</li><li>P->L at 1436: in dbSNP:rs36106401</li><li>H->D at 1445: in dbSNP:rs2909229</li><li>T->N at 1524: in dbSNP:rs34938990</li><li>G->V at 1616: in dbSNP:rs7248839</li><li>M->V at 1617: in dbSNP:rs7249743</li><li>N->D at 2089: in dbSNP:rs885723</li><li>E->D at 2646: in dbSNP:rs2542320</li><li>E->K at 2647: in dbSNP:rs2542319</li><li>A->V at 2793: in dbSNP:rs2542316</li><li>V->A at 2814: in dbSNP:rs3746009</li><li>G->S at 3264: in dbSNP:rs6508919</li><li>H->Q at 3920: in dbSNP:rs2542318</li><li>V->A at 4015: in dbSNP:rs3746009</li><li>G->D at 4095: in dbSNP:rs1975181</li><li>G->S at 4465: in dbSNP:rs6508919</li><li>D->H at 4906: in dbSNP:rs3746013</li><li>A->V at 5017: in dbSNP:rs741143</li>									<li>rs1975181</li><li>rs34939346</li><li>rs7249743</li><li>rs34181317</li><li>rs3746009</li><li>rs2542320</li><li>rs34254649</li><li>rs11083543</li><li>rs34938990</li><li>rs885723</li><li>rs35338934</li><li>rs36106401</li><li>rs2542319</li><li>rs2542318</li><li>rs2542316</li><li>rs741143</li><li>rs2909229</li><li>rs6508919</li><li>rs3746013</li><li>rs35922811</li><li>rs7248839</li>	2
Q9Y6S9	83694		<li>R->Q at 21: in dbSNP rsrs7156590</li><li>P->L at 121: in dbSNP rsrs2286913</li><li>R->W at 332</li>									<li>rs2286913</li><li>rs7156590</li>	2
Q9Y6T7	1607		<li>G->S at 789: in dbSNP:rs34616903</li>									rs34616903	2
Q9Y6U7	200312		<li>A->T at 322: in dbSNP:rs5749088</li>									rs5749088	2
Q9Y6V7	54555		<li>R->H at 222: in dbSNP:rs35802425</li><li>S->A at 296: in dbSNP:rs35614860</li><li>R->W at 413: in dbSNP:rs16995781</li>									<li>rs16995781</li><li>rs35802425</li><li>rs35614860</li>	2
Q9Y6X0	26040		<li>V->L at 177: in dbSNP:rs11082414</li><li>V->I at 1047: in dbSNP:rs3744825</li><li>P->T at 1076: in dbSNP:rs1064204</li><li>R->W at 1108: in a colorectal cancer sample; somatic mutation</li>									<li>rs3744825</li><li>rs11082414</li><li>rs1064204</li>	2
Q9Y6X2	10401		<li>S->C at 390: in dbSNP:rs17354559</li>									rs17354559	2
Q9Y6X5	22875		<li>H->Q at 144: in dbSNP:rs7451713</li><li>I->V at 255: in dbSNP:rs9381429</li><li>S->A at 439: in dbSNP:rs16874289</li>									<li>rs16874289</li><li>rs9381429</li><li>rs7451713</li>	2
Q9Y6X6	23026		<li>D->E at 181: in dbSNP:rs911973</li><li>V->I at 339: in dbSNP:rs405397</li><li>M->T at 385: in dbSNP:rs16973313</li><li>P->A at 831: in dbSNP:rs3825491</li><li>I->M at 1171: in dbSNP:rs157024</li>									<li>rs3825491</li><li>rs16973313</li><li>rs405397</li><li>rs911973</li><li>rs157024</li>	2
Q9Y6X8	22882		<li>V->M at 357: in dbSNP:rs9649951</li><li>R->K at 649: in dbSNP:rs35319449</li><li>G->S at 779: in dbSNP:rs3802264</li>									<li>rs3802264</li><li>rs35319449</li><li>rs9649951</li>	2
Q9Y6Y1	23261		<li>N->K at 1177: in dbSNP:rs41278952</li><li>N->T at 1218: in dbSNP:rs41278954</li><li>T->I at 1336</li>									<li>rs41278954</li><li>rs41278952</li>	2
Q9Y6Y8	11196		<li>K->E at 644: in dbSNP:rs2475298</li>									rs2475298	2
Q9Y6Z4			<li>H->D at 23: in dbSNP:rs9355149</li><li>C->R at 24: in dbSNP:rs2516801</li><li>Q->E at 57: in dbSNP:rs9364382</li>									<li>rs9364382</li><li>rs9355149</li><li>rs2516801</li>	2