{"text_format":"3","workbook":"xls","n_sheets":1,"sheets":["Variants in targ. validation"],"read":"whole","date_system":"1900","formulas":"cached_only"}

{"sheet":"Variants in targ. validation","index":0,"n_rows":415,"n_cols":7,"rows_kept":415,"merged":[[0,0,0,6],[2,0,2,6],[174,0,174,6]],"flags":["formulas_cached_only"]}
["VARIANTS DETECTED IN TARGETTED VALIDATION"]
[]
["BRCA1 (169 variants)"]
["EXON","AMPLICON","HGVS NOMENCLATURE","BIC NOMENCLATURE","PROTEIN","CLASSIFICATION","NOTES"]
[2,2,"c.66-67insA","185-186insA","STOP40","P"]
[2,2,"c.66delAG","185delAG","STOP39","P"]
[2,2,"c.69-79delGTGTCCCATCT","188-198delGTGTCCCATCT","STOP39","P","7 bases from R primer"]
[3,3,"c.131G>T","250G>T","C44F","P","8 bases from R primer"]
[3,5,"c.135-1G>T","IVS3-1G>T","IVS","P"]
[5,5,"c.135-1G>T","IVS4-1G>T","IVS","P"]
[5,5,"c.140G>A","259G>A","C47Y","P"]
[5,5,"c.181T>G","300T>G ","C61G","P"]
[5,5,"c.191G>A","310G>A","C64Y","P"]
[5,5,"c.212+1 G>T","IVS5+1G>T","IVS","P"]
[5,6,"c.213-11T>G","IVS5-11T>G","STOP75","P","7 bases from F primer"]
[6,"7A","c.302-2delA","IVS6-2delA","IVS","P","9 bases from F primer"]
[7,"7A","c.314A>G","433A>G","Y105C","POLY"]
[7,"7A","c.329-330insA","448-449insA","STOP113","P","6 adenine repeat"]
[7,"7B","c.427G>T","546G>T","E143X","P"]
[8,8,"c.470-471delCT","589-590delCT","STOP157","P"]
[8,8,"c.520delC","639delC","STOP233","P"]
[8,8,"c.536A>G","655A>G","Y179C","UV"]
[9,10,"c.594-2A>C","IVS9-2A>C","IVS","P"]
[10,10,"c.641A>G","760A>G","D214G","UV"]
[11,"11A","c.798-799delTT","917-918delTT","STOP285","P"]
[11,"11B","c.929delA","1048delA","STOP313","P"]
[11,"11B","c.981delAT","1100delAT","STOP328","P"]
[11,"11B","c.1018delG","1137delG","STOP340","P"]
[11,"11B","c.1067A>G","1186A>G","Q356R","UV"]
[11,"11B","c.1082C>G","1201C>G","S361X","P"]
[11,"11B","c.1105-1107delGAT","1224-1226delGAT","Asp369delAsn","IFD"]
[11,"11C","c.1175del40bp","1294del40bp","STOP396","P"]
[11,"11C","c.1287-1288insA","1406-1407insA","STOP435","P"]
[11,"11C","c.1335delAA","1454delAA","STOP455","P"]
[11,"11C","c.1352C>A","1471C>A","S451X","P"]
[11,"11D","c.1423A>T","1542A>T","S475C","UV"]
[11,"11D","c.1456T>C","1575T>C","F486L","UV"]
[11,"11D","c.1486C>T","1605C>T","R496C","UV"]
[11,"11D","c.1504delTTAAA","1623delTTAAA","STOP503","P"]
[11,"11D","c.1513insT","1632insT","STOP515","P"]
[11,"11D","c.1621C>T","1740C>T","Q541X","P"]
[11,"11D","c.1648A>C","1767A>C","N550H","UV"]
[11,"11D","c.1687C>T","1806C>T","Q563X","P"]
[11,"11D/11E","c.1724A>G","1843A>G","E575G","UV","4 bases from F primer"]
[11,"11E","c.1757delC","1876delC","STOP587","P"]
[11,"11E","c.1821-1823del4bp","1940-1942del4bp(AAAG)","STOP611","P"]
[11,"11E","c.1823-1826del4bp","1942-1945del4bp(AGAA)","STOP610","P"]
[11,"11E","c.1874-1877dupTAGT","1993-1996dupTAGT","STOP630","P"]
[11,"11E","c.1916T>A","2035T>A","L639X","P"]
[11,"11E","c.1961delA","2080delA","STOP700","P","8 adenine repeat"]
[11,"11E","c.1961insA","2080insA","STOP672","P","8 adenine repeat"]
[11,"11F","c.2019delA","2138delA","STOP700","P"]
[11,"11F","c.2068-2071delA","2187-2190delA","STOP700","P"]
[11,"11F","c.2071delA","2190delA","R691X","P"]
[11,"11F","c.2074delC","2193delC","STOP700","P"]
[11,"11F","c.2077G>A","2196G>A","D693N","POLY"]
[11,"11F","c.2082C>T","2201C>T","S694S","POLY","Homozygotes distinguishable"]
[11,"11F","c.2180C>T","2299C>T","P727L","UV"]
[11,"11F","c.2188-2201del14bp","2307-2320del14bp","STOP734","NO RECORD"]
[11,"11G","c.2267-2269delG","2386-2388delG","STOP764","P"]
[11,"11G","c.2299delA","2418delA","STOP791","P"]
[11,"11G","c.2311T>C","2430T>C","L771L","POLY","Homozygotes not distinguishable"]
[11,"11G","c.2389G>T","2508G>T","E797X","P"]
[11,"11G","c.2411-2412delAG","2530-2531delAG","STOP808","P"]
[11,"11G","c.2412G>C","2531G>C","Q804H","UV"]
[11,"11G","c.2437G>T","2556G>T","G813X","P"]
[11,"11G","c.2475delC","2594delC","STOP845","P"]
[11,"11G","c.2477C>A","2596C>A","T826K","UV"]
[11,"11H","c.2521C>T","2640C>T","R841W","UV","5 bases from F primer"]
[11,"11H","c.2555insT","2674insT","STOP853","P"]
[11,"11H","c.2557-2558insA","2676-2677insA","STOP902","P"]
[11,"11H","c.2562-2563insGC","2681-2682insGC","STOP893","P"]
[11,"11H","c.2611-2612insC","2730-2731insC","STOP902","P"]
[11,"11H","c.2612C>T","2731C>T","P871L","POLY","Homozygotes distinguishable"]
[11,"11H","c.2612delCinsTT","2731delCinsTT","STOP902","P"]
[11,"11H","c.2657-2658delCT","2776-2777delCT","STOP901","P"]
[11,"11H","c.2676-2679del4bp","2795-2798del4bp","STOP998","P"]
[11,"11H","c.2679-3682delGAAA","2798-2801delGAAA","STOP998","P"]
[11,"11H","c.2679delGA","2798delGA","STOP901","P"]
[11,"11H","c.2680delAA","2799delAA","STOP901","P"]
[11,"11H","c.2681-2682delAA","2800-2801delAA","STOP901","P"]
[11,"11H","c.2710G>T","2829G>T","E904X","P"]
[11,"11H","c.2713C>T","2832C>T","Q905X","P"]
[11,"11H/11I","c.2759T>C","2878T>C","V920A","UV","5 bases from F primer"]
[11,"11I","c.2800C>T","2919C>T","Q934X","P"]
[11,"11I","c.2863-3867delTCATC","2982-2986delTCATC","STOP968","P"]
[11,"11I/11J","c.2885delA","3004-3006delA","STOP999","P","8 bases from R primer /              2 bases from F primer"]
[11,"11J","c.2912A>G","3031A>G","H971R","UV"]
[11,"11J","c.2963C>A","3082C>A","S988X","P"]
[11,"11J","c.3052_3053 insTGAGA","3171-3172insTGAGA","STOP1023","P"]
[11,"11J","c.3101A>C","3220A>C","N1034T","UV"]
[11,"11J","c.3113A>G","3232A>G","E1038G","POLY","Homozygotes distinguishable"]
[11,"11J","c.3119G>A","3238G>A","S1040N","UV"]
[11,"11K","c.3194insG","3313insG","STOP1066","P","8 bases from F primer"]
[11,"11K","c.3239T>A","3358T>A","L1080X","P"]
[11,"11K","c.3256-3257insGA","3375-3376insGA","STOP1087","P"]
[11,"11K","c.3296C>T","3415C>T","P1099L","POLY"]
[11,"11K","c.3328-3331del4bp","3447-3450del4bp(AAGC)","STOP1115","P"]
[11,"11K","c.3331del4bp (CAAG)","3450del4bp(CAAG)","STOP1115","P"]
[11,"11K","c.3339T>G","3458T>G","Y1113X","P"]
[11,"11K","c.3400G>T","3519G>T","E1134X","P"]
[11,"11K","c.3403C>T","3522C>T","Q1135X","P"]
[11,"11L","c.3397delAAAinsC","3596delAAAinsC","STOP1163","P"]
[11,"11L","c.3463G>C","3582G>C","D1155H","UV"]
[11,"11L","c.3481-3491delGAAGATACTAG","3600-3610delGAAGATACTAG","STOP1163","P"]
[11,"11L","c.3548A>G","3667A>G","K1183R","NCS","Homozygotes distinguishable"]
[11,"11L","c.3598C>T","3717C>T","Q1200X","P"]
[11,"11L","c.3607C>T","3726C>T","R1203X","P"]
[11,"11L","c.3671-3672insTTCC","3790-3791insTTCC","STOP1234","P"]
[11,"11L/11M","c.3700del5bp (GTAAA)","3819del5bp(GTAAA)","STOP1242","P","14 bases from R primer/           16 bases from F primer"]
[11,"11L/11M","c.3706-3707delAA","3825-3826delAA","STOP1242","P","11 bases from R primer"]
[11,"11L/11M","c.3708T>G","3827T>G","N1236K","UV","10 bases from R primer"]
[11,"11M","c.3755delTGTC","3874delTGTC","STOP1262","P"]
[11,"11M","c.3756delGTGTbp","3875delGTGT","STOP1262","P"]
[11,"11M","c.3760-3761insT","3879-3880insT","STOP1265","P"]
[11,"11M","c.3763delAA","3882delAA ","STOP1265","P"]
[11,"11N","c.3869-3870delAA","3988-3989delAA","STOP1293","P"]
[11,"11N","c.3973delA","4092delA","STOP1335","P"]
[11,"11N","c.4035delA","4154delA","STOP1365","P"]
[11,"11N","c.4039A>G","4158A>G","R1347G","UV"]
[11,"11N","c.4063-4065del4bp","4182-4184del4bp","STOP1364","P"]
[11,"11N","c.4065-4068delTCAA","4184-4187delTCAA","STOP1364","P"]
[12,12,"c.4155-4156ins10bp","4274-4275ins10bp","STOP1393","P"]
[12,12,"c.4185+2del21insA","IVS12+2del21insA","IVS","P"]
[12,12,"c.4185+9C>T","IVS12+9C>T","IVS","UV"]
[13,13,"c.4204C>T","4323C>T ","H1402Y","UV"]
[13,13,"c.4264-4266insG","4383-4385insG","STOP1427","P"]
[13,13,"c.4308T>C","4427T>C","S1436S","POLY"]
[13,13,"c.4327 C>T","4446C>T","R1443X","P"]
[13,13,"c.4357+1G>C","IVS13+1G>C","IVS","P","2 bases from R primer"]
[14,14,"c.4372-4388del17bp","4491-4507del17bp","STOP1470","P"]
[14,14,"c.4399C>T","4518C>T","Q1467X","P"]
[14,14,"c.4476+2ins8bp","IVS14+2ins8bp","IVS","UV"]
[15,15,"c.4524G>A","4643G>A","W1508X","P"]
[15,15,"c.4535G>T","4654G>T ","S1512I","POLY"]
[15,15,"c.4574delAA","4693delAA","STOP1529","P"]
[15,15,"c.4600G>A","4719G>A","V1534M","UV"]
[16,16,"c.4689C>G","4808C>G","Y1563X","P"]
[16,16,"c.4764delT","4883delT","STOP1600","P"]
[16,16,"c.4812A>G","4931A>G","Q1604Q","UV"]
[16,16,"c.4837A>G","4956A>G","S1613G","POLY"]
[16,16,"c.4837delA","4956delA","STOP1632","P"]
[16,16,"c.4936delG","5055delG","STOP1657","P"]
[16,16,"c.4956G>A","5075G>A","M1652I","UV"]
[16,16,"c.4956G>A Het","5075A>G Het","M1652I","UV"]
[16,16,"c.4964del19bp","5083del19bp","STOP1670","P","9 bases from R primer"]
[17,17,"c.4991T>C","5110T>C","L1664P","UV"]
[17,17,"c.5030del5bp","5149del5bp","STOP1680","P"]
[17,17,"c.5074+5C>G","IVS17+5C>G","IVS","UV","1 base from R primer"]
[18,18,"c.5095C>T","5214C>T","R1699W","P"]
[18,18,"c.5096G>A","5215G>A","R1699Q","UV"]
[18,18,"c.5117G>C","5236G>C","G1706A","UV"]
[18,18,"c.5123C>A","5242C>A","A1708E","UV"]
[18,18,"c.5123C>T","5242C>T","A1708V","P"]
[18,18,"c.5135-5137delG","5254-5256delG","STOP1713","P"]
[18,18,"c.5154+1G>T","IVS18+1G>T","DEL EXON 18","P"]
[18,18,"c.5154+15A>G","IVS18+15A>G","IVS","UV","3 bases from R primer"]
[19,19,"c.5158A>G","5277A>G","T1720A","UV"]
[19,19,"c.5191+1 G>A","IVS19+1G>A","IVS","P"]
[19,20,"c.5192-12G>A","IVS19-12G>A","IVS","PATH-SPLICE VARIANT"]
[20,20,"c.5212 G>A","5331G>A ","G1738E","UV"]
[20,20,"c.5251C>T","5370C>T","R1751X","P"]
[20,20,"c.5263insC","5382insC","STOP1829","P"]
[20,20,"c.5269dupC","5388dupC","STOP1829","P"]
[20,20,"c.5277+1G>A","IVS20+1G>A","IVS","P"]
[21,21,"c.5324T>A","5443T>A","M1775K","UV"]
[23,23,"c.5408-1G>A","IVS22-1G>A","IVS","P","9 bases from F primer"]
[23,23,"c.5444G>A","5563G>A","W1815X","P"]
[23,23,"c.5467G>A","5586G>A","A1823T","P","12 bases from R primer"]
[23,23,"c.5467+5G>C","IVS23+5G>C","IVS","UV","7 bases from R primer"]
[24,24,"c.5503C>T","5622C>T","R1835X","P"]
[24,24,"c.5513T>A","5632T>A","V1838E","UV"]
[24,24,"c.5534del6(ACCAGT)ins20bp","5653del6(ACCAGT)ins20","STOP1859","P"]
[]
["BRCA2 (239 variants)"]
["EXON","AMPLICON","HGVS NOMENCLATURE","BIC NOMENCLATURE","PROTEIN","CLASSIFICATION","NOTES"]
[2,2,"c.26delC","254delC","STOP24","P"]
[2,2,"c.53G>A","281G>A","R18H","UV"]
[3,"3A","c.68-7T>A","IVS2-7T>A","IVS","UV","10 thymine repeat"]
[3,"3A","c.125A>G","353A>G","Y42C","UV"]
[3,"3A/3B","c.250C>T","478C>T","Q84X","P"]
[3,"3B","c.215delAinsTT","443delAinsTT","STOP100","P","14 bases from R primer"]
[3,"3B","c.260-262delCT","488-490delCT","STOP99","P"]
[3,"3B","c.314T>G","542T>G","L105X","P"]
[4,4,"c.396T>C","624T>A","C132X","P"]
[5,5,"c.426-12_8delGTTTT","IVS4-12_8delGTTTT","DEL EXON 5","P"]
[5,5,"c.438A>G","666A>G","L146L","POLY"]
[5,5,"c.440A>G","668A>G","Q147R","UV"]
[6,6,"c.506A>G","734A>G","K169R","UV"]
[6,6,"c.516+1G>T","IVS6+1G>T","IVS","P"]
[7,7,"c.517-2A>G","IVS6-2A>G","IVS","P"]
[7,7,"c.517G>C","745G>C","G173R","UV"]
[7,7,"c.539-540insAT","767_768insAT","STOP185","P"]
[7,7,"c.574delAT","802delAT","STOP204","P"]
[7,7,"c.575T>C","803T>C","M192T","UV"]
[7,7,"c.599C>T","827C>T","T200I","UV"]
[7,7,"c.631G>C","859G>C","V211L","UV"]
[8,8,"c.632-2A>G","IVS7-2A>G","IVS","NO RECORD"]
[8,8,"c.632-1G>A","IVS7-1G>A","IVS","P"]
[8,8,"c.658_659 delGT","886-887delGT","STOP223","P"]
[8,9,"c.682-32A>G","IVS8-32A>G","IVS","POLY"]
[9,9,"c.750-755del6bp","978-983del6bp","T251_D252del"]
[9,9,"c.755del4bp (ACAG)","983del4bp(ACAG)","STOP275","P"]
[9,9,"c.767delC","995delC","STOP276","P"]
[10,"10A","c.865A>G","1093A>G","N289H","POLY"]
[10,"10A","c.906delC","1134delC","STOP323","P"]
[10,"10B","c.1097_1098insT","1325_1326 insT","STOP377","P"]
[10,"10C","c.1114C>T","1342C>A","H372N","POLY","Homozygotes distinguishable"]
[10,"10C","c.1151C>T","1379C>T","S384F","POLY"]
[10,"10C","c.1190insTTAG","1418insTTAG","STOP421","P","10 bases from F primer"]
[10,"10C","c.1227G>A","1455G>A","E409E","POLY"]
[10,"10C","c.1231delA","1459delA","STOP429","P"]
[10,"10C","c.1238delT","1466delT","STOP429","P"]
[10,"10C","c.1301delAAAG","1529delAAAG","STOP459","P"]
[10,"10C","c.1309delAAAG","1537_1540delAAAG","STOP459","P"]
[10,"10C","c.1321insA","1549insA","STOP451","P"]
[10,"10C/10D","c.1365A>G","1593A>G","S455S","POLY","1 base from R primer"]
[10,"10D","c.1389-1390delAG","1617_1618delAG","STOP466","P"]
[10,"10D","c.1395A>C","1623A>C","V465V","POLY"]
[10,"10D","c.1514T>C","1742T>C","I505T","POLY"]
[10,"10E","c.1689G>A","1917G>A","W563X","P"]
[10,"10E","c.1748T>A","1976T>A","L583X","P"]
[10,"10F","c.1772_1775delTTTA","2000_2003delTTTA","STOP612","P"]
[10,"10F","c.1773_1776delTTAT","2001-2004delTTAT","STOP612","P"]
[10,"10F","c.1792A>G","2020A>G","T598A","POLY"]
[10,"10F","c.1796-1800delCTTAT","2024_2028delCTTAT","STOP599","P"]
[10,"10F","c.1796T>C","2024T>C","F599S","UV"]
[10,"10F","c.1813delA","2041delA","STOP613","P"]
[10,"10F","c.1813insA","2041insA","STOP615","P"]
[10,"10F","c.1842-1843insT","2070_2071insT","STOP615","P"]
[10,"10F","c.1909+12delT","IVS10+12delT","IVS","UV","11 thymine repeat"]
[11,"11A","c.1938C>T","2166C>T ","S646S","POLY"]
[11,"11B","c.2229T>C","2457T>C ","H743H","POLY"]
[11,"11C","c.2391G>A","2619G>A","L797L","POLY","7 bases from F primer"]
[11,"11C","c.2409 T>G","2637T>G","Y803X","P"]
[11,"11C","c.2537C>G","2765C>G","S846X","P"]
[11,"11C/11C2","c.2606C>T","2834C>T","S869L","UV"]
[11,"11C2","c.2754C>T","2982C>T","N918N","POLY"]
[11,"11C2","c.2760delC","2988delC","STOP959","P"]
[11,"11C2","c.2803G>A","3031G>A","D935N","POLY"]
[11,"11C2","c.2805-2808del4bp(TAAA)","3033-3036del4bp(TAAA)","STOP959","P"]
[11,"11C2","c.2806-2808del4bp(AAAC)","3034-3036del4bp(AAAC)","STOP959","P"]
[11,"11C2","c.2808-2811del4bp(ACAA)","3036-3039del4bp(ACAA)","STOP958","P"]
[11,"11C2/11D","c.2830A>C","3058A>T","K944X","P","11 bases from R primer/              5 bases from F primer/                6 adenine repeat"]
[11,"11D","c.2957-2958insA","3185-3186insA","STOP987","P","7 adenine repeat"]
[11,"11D","c.2971A>G","3199A>G","N991D","POLY"]
[11,"11E","c.3007-3009del3bp","3235-3237del3bp","H1003del",null,"12 bases from F primer"]
[11,"11E","c.3103G>T","3331G>T","E1035X","P"]
[11,"11E","c.3158T>G","3386T>G","L1053X","P"]
[11,"11E","c.3160-3163delGATA","3388-3391delGATA","STOP1058","P"]
[11,"11F","c.3396A>G","3624A>G","K1132K","POLY","Homozygotes distinguishable"]
[11,"11F","c.3515C>T","3743C>T","S1172L","UV"]
[11,"11G1","c.3680delTG","3908delTG","STOP1231","P"]
[11,"11G1","c.3744-3747delTGAG","3972_3975delTGAG","STOP1257","P"]
[11,"11G2","c.3785C>G","4013C>G","S1262X","P","14 bases from F primer"]
[11,"11G2","c.3793T>A","4021T>A","C1265S"]
[11,"11G2","c.3807T>C","4035T>C","V1269V","SYN","Homozygotes distinguishable"]
[11,"11G2","c.3847delGT","4075delGT","STOP1283","P"]
[11,"11G2","c.3879-3880insA","4107_4108insA","STOP1297"]
[11,"11G2","c.4054G>A","4282G>A","D1352N","UV"]
[11,"11H","c.4068G>A","4296G>A","L1356L","UV"]
[11,"11H","c.4076delC","4304delC","STOP1373","P"]
[11,"11H","c.4137-4141delGATTA","4365_4369delGATTA","STOP1400","P"]
[11,"11H","c.4163C>A","4391C>A","T1388N","UV"]
[11,"11H","c.4163delCTinsA","4391delCTinsA","STOP1409","P","6 thymine repeat"]
[11,"11H","c.4169delT","4397delT","STOP1409","P","6 thymine repeat"]
[11,"11H","c.4189G>A","4417G>A","E1397K","UV","7 bases from R primer"]
[11,"11I/11ISHORT","c.4258G>T","4486G>T","D1420Y","POLY"]
[11,"11I/11ISHORT","c.4284insT","4512insT","STOP1437","P","10 bases from R primer/             6 thymine repeat"]
[11,"11I","c.4398_4402del5bp (ACATT)","4626_4630del5bp(ACATT)","STOP1467","P"]
[11,"11I","c.4473-4478del6bp","4701-4706del6bp","K1492_E1493del"]
[11,"11I","c.4474-4476delAA","4702-4704delAA","STOP1512"]
[11,"11I","c.4478delAAAG","4706-4709delAAAG","STOP1502","P"]
[11,"11I","c.4609G>A","4837G>A","E1537K","NO RECORD"]
[11,"11J1","c.4638delT","4866delT","STOP1567","P"]
[11,"11J1","c.4699C>T","4927C>T","L1567L"]
[11,"11J1","c.4712-4713delAG","4940_4941delAG","STOP1573","P"]
[11,"11J1","c.4741delGinsAA","4969delGinsAA","STOP1584",null,"15 bases from R primer"]
[11,"11J3","c.5070A>C","5298A>C","K1690N","UV"]
[11,"11J3","c.5073-5074insA","5301_5302insA","STOP1694","P"]
[11,"11J3","c.5130-5133del4bp","5358_5361del4bp(TGTA)","STOP1710","P"]
[11,"11J3","c.5141-5144delATTT","5369_5372delATTT","STOP1723","P"]
[11,"11J3/11K1","c.5199C>T","5427C>T","S1733S","POLY","4 bases from R primer/               8 bases from F primer"]
[11,"11K1","c.5217delTTTAAGT","5445delTTTAAGT","STOP1739","P"]
[11,"11K1","c.5238insT","5466insT","STOP1747","P"]
[11,"11K1","c.5278T>G","5506T>G","S1760A","UV"]
[11,"11K1","c.5279C>G","5507C>G","S1760X","P"]
[11,"11K1","c.5286T>A","5514T>A ","Y1762X","P"]
[11,"11K1","c.5319G>A","5547G>A","E1773E","SYN"]
[11,"11K1/11K2","c.5344C>T","5572C>T","Q1782X","P","9 bases from R primer/               3 bases from F primer"]
[11,"11K1/11K2","c.5350delAA","5578delAA","STOP1785","P","2 bases from R primer/               9 bases from F primer/                7 adenine repeat"]
[11,"11K2","c.5410delGT","5638delGT","STOP1805","P"]
[11,"11L","c.5575del4bp","5803del4bp(ATTA)","STOP1862","P"]
[11,"11L","c.5576-5579delTTAA","5804_5807delTTAA","STOP1862","P"]
[11,"11L","c.5583delA","5811delA","V1862X",null,"6 adenine repeat"]
[11,"11L","c.5638-5641del4bp","5866-5869del4bp","STOP1907"]
[11,"11L","c.5641-5644delAAAT","5869_5872delAAAT","STOP1907","P"]
[11,"11L","c.5644C>A","5873C>A","S1882X","P"]
[11,"11L","c.5682C>G","5910C>G","Y1894X","P"]
[11,"11L","c.5714A>G","5942A>G","H1905R","UV"]
[11,"11L","c.5718-5722del2bp","5946-5950del2bp(CT)","STOP1909","P"]
[11,"11L","c.5722-5723delCT","5950_5951delCT","STOP1909","P"]
[11,"11L","c.5744T>C","5972T>C","M1915T","UV"]
[11,"11M","c.5796-5797delTA","6024_6025delTA","STOP1943","P"]
[11,"11M","c.5897A>G","6125A>G","H1966R","NO RECORD"]
[11,"11M","c.5909C>A","6137C>A","S1970X","P"]
[11,"11M","c.5945G>C","6173G>C","S1982T","NO RECORD"]
[11,"11M","c.5946delT","6174delT","STOP2003","P"]
[11,"11N","c.6065C>G","6293C>G","S2022X","P"]
[11,"11N","c.6079-6080insA","6307_6308insA ","STOP2048","P"]
[11,"11N","c.6100C>T","6328C>T","R2034C","UV"]
[11,"11N","c.6172T>A","6400T>A","F2058I","NO RECORD"]
[11,"11O","c.6240-6241insA","6468-6469insA","STOP2084","P"]
[11,"11O","c.6275_6276 delTT","6503delTT","STOP2098","P"]
[11,"11O","c.6322C>T","6550C>T","R2108C"]
[11,"11O","c.6402-6405delTAACT","6630_6634delTAACT","STOP2138","P"]
[11,"11O","c.6405delCTTAA","6633delCTTAA","STOP2138","P"]
[11,"11P","c.6468-6469delTC","6696_6697delTC","STOP2174","P"]
[11,"11P","c.6486delACAA","6714-6717delACAA","STOP2166","P"]
[11,"11P","c.6535-6536insA","6763_6764insA","STOP2188","P"]
[11,"11P","c.6591delTG","6819delTG","STOP2201","P"]
[11,"11P","c.6626-6627delTA","6854_6855delTA","STOP2223","P"]
[11,"11P","c.6643delT","6871delT","STOP2228","P"]
[11,"11P","c.6675A>G","6903A>G","T2225T"]
[11,"11Q","c.6743-6755delATGCCACACATTC","6971_6983delATGCCACACATTC","STOP2275","P"]
[11,"11Q","c.6821G>T","7049G>T","G2274V"]
[13,13,"c.6944-6947del4bp","7172_7175del4bp(TAAA)","STOP2326","P"]
[13,13,"c.6952C>T","7180C>T","R2318X","P"]
[13,13,"c.6953G>A","7181G>A","R2318Q","UV"]
[13,13,"c.7007G>A","7235G>A","R2336H","P"]
[14,"14A","c.7069-7070delCT","7297-7298delCT ","STOP2358","P"]
[14,"14A","c.7133C>G","7361C>G","S2378X","P"]
[14,"14A","c.7177insA","7405insA","STOP2411","P"]
[14,"14A","c.7178insA","7406insA","STOP2411","P"]
[14,"14B","c.7224-7227del","7452-7453del","STOP2467","P"]
[14,"14B","c.7242A>G","7470A>G","S2414S","POLY"]
[14,"14B ","c.7336A>G","7564A>G","K2446E","UV","5 adenine repeat"]
[14,"14B","c.7360delA","7588delA","STOP2468","P"]
[14,"14B","c.7379-7382delACAA","7607-7610delACAA","STOP2467","P"]
[14,"14B","c.7403insG","7631insG","STOP2474","P"]
[14,"14B","c.7415A>G","7643A>C","K2472T","UV"]
[15,15,"c.7480 C>T","7708C>T","R2494X","P"]
[15,15,"c.7505G>A","7733G>A","R2502H","UV"]
[15,15,"c.7506C>A","7734C>A","R2502R","POLY"]
[15,15,"c.7521A>G","7749A>G","P2507P"]
[15,15,"c.7544C>T","7772C>T","T2515I","POLY"]
[15,15,"c.7558C>T","7786C>T","R2520X","P"]
[16,16,"c.7663-7668insA","7891_7896insA","K2555_N2556del"]
[16,16,"c.7667-7668insA","7895_7896insA","STOP2565","P"]
[16,16,"c.7757G>A","7985G>A","W2586X","P"]
[16,16,"c.7762_7764 delATAinsTT","7990del3ins2(delATAinsTT)","STOP2647","P"]
[17,17,"c.7806-1G>T","IVS16-1G>T","IVS","P"]
[17,17,"c.7806-7807insAG","8034_8035insAG","STOP2648","P","3 bases from F primer"]
[17,17,"c.7878G>A","8106G>A","W2626X","P"]
[17,17,"c.7884-7885insA","8112_8113insA","STOP2640","P"]
[18,"18A","c.8205-1G>C","IVS17-1G>C","IVS","P"]
[18,"18A","c.7980T>G","8208T>G","Y2660X","P"]
[18,"18A","c.7988A>T","8216A>T","E2663V","UV"]
[18,"18A","c.7994A>G","8222A>G","D2665G","POLY"]
[18,"18A","c.8009C>T","8237C>T","S2670L","UV"]
[18,"18A","c.8067delT","8295delT","STOP2693","P"]
[18,"18A","c.8084C>G","8312C>G","S2695X","P"]
[18,"18A","c.8149G>T","8377G>T","A2717S","POLY","16 bases from R primer"]
[18,"18B","c.8167G>A","8395G>C","D2723H","UV","7 bases from F primer"]
[18,"18B","c.8168A>C","8396A>C","D2723A","UV","8 bases from F primer"]
[18,"18B","c.8182G>A","8410G>A","V2728I","POLY"]
[18,"18B","c.8215G>A","8443G>A","V2739I","NO RECORD"]
[18,"18B","c.8247-8248delGA","8475_8476delGA","STOP2762","P"]
[18,"18B","c.8297delC","8525delC","STOP2776","P"]
[18,"18B","c.8308G>A","8536G>A","A2770T","NO RECORD"]
[18,"18B","c.8432+1G>A","IVS18+1G>A ","IVS","P","12 bases from R primer"]
[19,19,"c.8486A>G","8714A>G","DEL EXON 19","P","6 bases from R primer"]
[19,19,"c.8715+1G>A","IVS19+1G>A","IVS","P","4 bases from R primer "]
[20,20,"c.8561insA","8789insA","Y2854X","P"]
[20,20,"c.8567A>C","8795A>C","E2856A","POLY"]
[20,20,"c.8573A>G","8801A>G","Q2858R","UV"]
[20,20,"c.8575delC","8803delC","STOP2862","P"]
[20,20,"c.8585insT","8813insT","STOP2868","P"]
[20,20,"c.8620G>T","8848G>T","E2874X","P"]
[20,20,"c.8860+1G>A","IVS20+1G>A","IVS","NO RECORD","9 bases from R primer"]
[21,21,"c.8734G>A","8962G>A","A2912T","NO RECORD"]
[22,22,"c.8850G>T","9078G>T","K2950N","UV"]
[22,22,"c.8851G>A","9079G>A","A2951T","POLY"]
[22,22,"c.8904delC","9132delC","STOP2975","P"]
[22,22,"c.8905G>A","9133G>A","V2969M","UV"]
[22,22,"c.8918G>A","9146G>A","R2973H","UV"]
[22,22,"c.8933C>A","9161C>A","S2978X","P"]
[23,23,"c.8991T>G","9219T>G","Y2997X","P"]
[23,23,"c.9038C>T","9266C>T","T3013I","POLY"]
[23,23,"c.9089C>T","9317C>T","T3030I"]
[23,23,"c.9097_9098insA","9325_9326insA","STOP3042","P","8 adenine repeat"]
[23,23,"c.9104A>G","9332A>G","Y3035C","UV"]
[23,23,"c.9117G>A","9345G>A","P3039P","PATH-SPLICE VARIANT"]
[23,23,"c.9345+1G>A","IVS23+1G>A","IVS","P"]
[24,24,"c.9154C>T","9382C>T","R3052W","UV"]
[24,24,"c.9196C>T","9424C>T","Q3066X","P"]
[25,25,"c.9485-16T>C","IVS24-16T>C","IVS","UV","2 bases from F primer/                8 thymine repeat"]
[25,25,"c.9485-15T>C","IVS24-15T>C","IVS","UV","3 bases from F primer/                8 thymine repeat"]
[25,25,"c.9267-9269insT","9495-9497insT","STOP3110","P"]
[25,25,"c.9276T>G","9504T>G","Y3092X","P"]
[25,25,"c.9292T>C","9520T>C","Y3098H","UV"]
[25,25,"c.9294 C>G","9522C>G","Y3098X","P"]
[25,25,"c.9317G>A","9545G>A","W3106X","P"]
[25,25,"c.9364G>A","9592G>A","A3122T","NO RECORD"]
[25,25,"c.9382C>T","9610C>T","R3128X","P"]
[25,25,"c.9435delGT","9663delGT","STOP3148","P"]
[25,25,"c.9497insT","9725insT","E3167X","P"]
[25,25,"c.9729+3A>T","IVS25+3A>T","IVS","UV","12 bases from R primer"]
[27,"27B","c.9924C>G","10152C>G","Y3308X","P"]
[27,"27B","c.9976A>T","10204A>T","K3326X","POLY"]
[27,"27B","c.10095delCins11","10323delCins11","STOP3369","P"]
[27,"27B","c.10110G>A","10338G>A","R3370R","UV","5 bases from R primer"]
[27,"27B","c.10188T>C","10416T>C","S3396S","NO RECORD"]
[27,"27C","c.10234A>G","10462A>G","I3412V","UV"]
["3'UTR","27C","c.10362A>C","10590A>C","3'UTR","POLY","Homozygotes distinguishable"]