ClinVar Miner

List of variants studied for Dyskeratosis congenita by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 469
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HGVS dbSNP
NC_000005.10:g.(?_177600191)_(178153837_?)dup
NC_000005.10:g.(?_178149693)_(178153837_?)del
NC_000005.10:g.(?_178149693)_(178153837_?)dup
NC_000005.10:g.(?_178149707)_(178153823_?)del
NC_000017.10:g.(?_6589506)_(8151374_?)dup
NC_000017.11:g.(?_8228170)_(8382320_?)dup
NC_000023.10:g.(?_153991099)_(154005162_?)dup
NM_001034833.1(NHP2):c.195_196AG[1] (p.Glu66fs) rs1333837047
NM_001034833.1(NHP2):c.231-1119_231-1116del rs754436041
NM_001099274.3(TINF2):c.1003C>T (p.Leu335=) rs200990844
NM_001099274.3(TINF2):c.1010del (p.Gly337fs) rs756029660
NM_001099274.3(TINF2):c.1016C>T (p.Ala339Val) rs1566366492
NM_001099274.3(TINF2):c.1025A>C (p.Glu342Ala) rs1555303978
NM_001099274.3(TINF2):c.1029C>T (p.Asn343=) rs199597631
NM_001099274.3(TINF2):c.1030C>T (p.Pro344Ser) rs200454893
NM_001099274.3(TINF2):c.1073_1081dup (p.Met361_Asp362insAsnCysTyr) rs776727691
NM_001099274.3(TINF2):c.1081A>G (p.Met361Val)
NM_001099274.3(TINF2):c.1083G>A (p.Met361Ile)
NM_001099274.3(TINF2):c.1090dup (p.Leu364fs) rs1566366182
NM_001099274.3(TINF2):c.1092G>A (p.Leu364=) rs184422577
NM_001099274.3(TINF2):c.1130-1G>T
NM_001099274.3(TINF2):c.1139C>T (p.Pro380Leu)
NM_001099274.3(TINF2):c.1140G>A (p.Pro380=) rs10141326
NM_001099274.3(TINF2):c.1156G>A (p.Val386Ile) rs749534744
NM_001099274.3(TINF2):c.115C>G (p.Arg39Gly) rs1367518236
NM_001099274.3(TINF2):c.1166T>C (p.Ile389Thr) rs192423622
NM_001099274.3(TINF2):c.1221+3G>C
NM_001099274.3(TINF2):c.1222G>C (p.Glu408Gln) rs1594548909
NM_001099274.3(TINF2):c.1236C>T (p.Asn412=) rs117234138
NM_001099274.3(TINF2):c.1253T>C (p.Phe418Ser) rs773286175
NM_001099274.3(TINF2):c.127G>A (p.Ala43Thr) rs35653076
NM_001099274.3(TINF2):c.1288C>A (p.Pro430Thr)
NM_001099274.3(TINF2):c.1288C>T (p.Pro430Ser) rs374776408
NM_001099274.3(TINF2):c.1290C>G (p.Pro430=) rs201083863
NM_001099274.3(TINF2):c.1292del (p.Pro431fs) rs770529422
NM_001099274.3(TINF2):c.1297G>C (p.Gly433Arg) rs763867083
NM_001099274.3(TINF2):c.1307C>T (p.Ala436Val) rs369249473
NM_001099274.3(TINF2):c.1312C>G (p.Pro438Ala)
NM_001099274.3(TINF2):c.1331G>A (p.Cys444Tyr)
NM_001099274.3(TINF2):c.1337A>T (p.Asp446Val) rs532096263
NM_001099274.3(TINF2):c.141C>T (p.Gly47=)
NM_001099274.3(TINF2):c.159C>T (p.His53=) rs370875792
NM_001099274.3(TINF2):c.163G>A (p.Glu55Lys)
NM_001099274.3(TINF2):c.167G>A (p.Arg56His)
NM_001099274.3(TINF2):c.217G>C (p.Gly73Arg)
NM_001099274.3(TINF2):c.218G>A (p.Gly73Asp) rs1566369238
NM_001099274.3(TINF2):c.257_258del (p.His86fs)
NM_001099274.3(TINF2):c.28G>T (p.Ala10Ser) rs746625511
NM_001099274.3(TINF2):c.302A>G (p.Lys101Arg) rs1375036989
NM_001099274.3(TINF2):c.315G>A (p.Arg105=) rs773958161
NM_001099274.3(TINF2):c.318G>C (p.Lys106Asn)
NM_001099274.3(TINF2):c.359A>G (p.Gln120Arg) rs189265179
NM_001099274.3(TINF2):c.37C>T (p.Arg13Cys)
NM_001099274.3(TINF2):c.400-3T>C
NM_001099274.3(TINF2):c.400-9C>T rs201087708
NM_001099274.3(TINF2):c.403C>T (p.Leu135Phe) rs199740488
NM_001099274.3(TINF2):c.462C>T (p.Tyr154=) rs778034325
NM_001099274.3(TINF2):c.500C>T (p.Ala167Val)
NM_001099274.3(TINF2):c.507+6G>A
NM_001099274.3(TINF2):c.517G>A (p.Val173Met)
NM_001099274.3(TINF2):c.520C>T (p.Leu174=) rs374116388
NM_001099274.3(TINF2):c.569G>A (p.Arg190Lys) rs1382407347
NM_001099274.3(TINF2):c.586A>G (p.Met196Val)
NM_001099274.3(TINF2):c.61C>G (p.Gln21Glu) rs767648367
NM_001099274.3(TINF2):c.62A>G (p.Gln21Arg) rs367835995
NM_001099274.3(TINF2):c.631C>G (p.Leu211Val) rs746287594
NM_001099274.3(TINF2):c.640C>T (p.Pro214Ser) rs372610524
NM_001099274.3(TINF2):c.659C>T (p.Pro220Leu)
NM_001099274.3(TINF2):c.684C>A (p.His228Gln) rs370555134
NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser) rs199422321
NM_001099274.3(TINF2):c.707C>T (p.Pro236Leu)
NM_001099274.3(TINF2):c.710G>A (p.Gly237Asp) rs17102313
NM_001099274.3(TINF2):c.718C>T (p.Leu240Phe) rs1594551965
NM_001099274.3(TINF2):c.721C>T (p.Pro241Ser) rs17102311
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr) rs142777869
NM_001099274.3(TINF2):c.743C>T (p.Thr248Met) rs552794694
NM_001099274.3(TINF2):c.74G>C (p.Gly25Ala) rs202093758
NM_001099274.3(TINF2):c.771C>T (p.His257=) rs75124018
NM_001099274.3(TINF2):c.778C>G (p.Leu260Val) rs1594551733
NM_001099274.3(TINF2):c.793C>T (p.Arg265Ter)
NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys) rs199422322
NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys) rs121918545
NM_001099274.3(TINF2):c.861G>C (p.Leu287=) rs770236773
NM_001099274.3(TINF2):c.910G>A (p.Glu304Lys) rs1566366788
NM_001099274.3(TINF2):c.914G>C (p.Ser305Thr)
NM_001099274.3(TINF2):c.917A>G (p.Lys306Arg) rs1555304016
NM_001099274.3(TINF2):c.922G>C (p.Glu308Gln) rs1232383398
NM_001099274.3(TINF2):c.922G>T (p.Glu308Ter)
NM_001099274.3(TINF2):c.929C>T (p.Ala310Val)
NM_001099274.3(TINF2):c.936C>A (p.Tyr312Ter) rs201677741
NM_001099274.3(TINF2):c.937A>T (p.Thr313Ser)
NM_001099274.3(TINF2):c.967G>C (p.Ala323Pro)
NM_001363.5(DKC1):c.1036+6_1036+7del
NM_001363.5(DKC1):c.1039A>G (p.Ile347Val) rs1248744087
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val) rs121912288
NM_001363.5(DKC1):c.109_111del (p.Leu37del) rs137854489
NM_001363.5(DKC1):c.1206G>A (p.Gly402=) rs199803984
NM_001363.5(DKC1):c.1210C>G (p.Pro404Ala)
NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile) rs199422254
NM_001363.5(DKC1):c.1276G>C (p.Glu426Gln)
NM_001363.5(DKC1):c.1293G>A (p.Val431=) rs138065506
NM_001363.5(DKC1):c.1317C>T (p.Ala439=) rs143207180
NM_001363.5(DKC1):c.1334C>T (p.Ala445Val)
NM_001363.5(DKC1):c.1346G>C (p.Arg449Pro) rs1289430524
NM_001363.5(DKC1):c.1349A>T (p.Glu450Val)
NM_001363.5(DKC1):c.1352G>A (p.Ser451Asn)
NM_001363.5(DKC1):c.1409_1411AGA[2] (p.Lys472del) rs781922569
NM_001363.5(DKC1):c.1431G>A (p.Lys477=) rs3752356
NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg) rs150319104
NM_001363.5(DKC1):c.1457G>A (p.Gly486Glu)
NM_001363.5(DKC1):c.146C>T (p.Thr49Met) rs121912304
NM_001363.5(DKC1):c.1494_1496GAA[4] (p.Lys503_Lys505del) rs782576893
NM_001363.5(DKC1):c.1494_1496GAA[5] (p.Lys504_Lys505del) rs782576893
NM_001363.5(DKC1):c.1494_1496GAA[6] (p.Lys505del) rs782576893
NM_001363.5(DKC1):c.1494_1496GAA[8] (p.Lys505dup) rs782576893
NM_001363.5(DKC1):c.1494_1496GAA[9] (p.Lys504_Lys505dup) rs782576893
NM_001363.5(DKC1):c.149C>A (p.Ser50Tyr) rs1569558474
NM_001363.5(DKC1):c.1512G>T (p.Lys504Asn) rs1557265783
NM_001363.5(DKC1):c.1515A>C (p.Lys505Asn) rs1370393255
NM_001363.5(DKC1):c.1524G>T (p.Glu508Asp)
NM_001363.5(DKC1):c.1533G>C (p.Leu511Phe) rs782491403
NM_001363.5(DKC1):c.191T>G (p.Val64Gly)
NM_001363.5(DKC1):c.20T>C (p.Ile7Thr) rs782343800
NM_001363.5(DKC1):c.259A>G (p.Ile87Val) rs782202263
NM_001363.5(DKC1):c.263+6T>C
NM_001363.5(DKC1):c.369= (p.Thr123=) rs2728532
NM_001363.5(DKC1):c.39T>C (p.His13=) rs782044075
NM_001363.5(DKC1):c.415G>A (p.Ala139Thr) rs374799227
NM_001363.5(DKC1):c.42GAA[1] (p.Lys17del)
NM_001363.5(DKC1):c.487A>C (p.Ile163Leu) rs782159247
NM_001363.5(DKC1):c.494G>T (p.Gly165Val)
NM_001363.5(DKC1):c.622G>A (p.Asp208Asn) rs374771308
NM_001363.5(DKC1):c.629A>G (p.Glu210Gly)
NM_001363.5(DKC1):c.640+3G>A
NM_001363.5(DKC1):c.64T>G (p.Leu22Val)
NM_001363.5(DKC1):c.776A>C (p.His259Pro) rs61757608
NM_001363.5(DKC1):c.828C>T (p.His276=) rs1603429504
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) rs146700772
NM_001363.5(DKC1):c.84+10A>T rs782718798
NM_001363.5(DKC1):c.85-4G>A rs782787521
NM_001363.5(DKC1):c.877T>C (p.Leu293=) rs1603429508
NM_001363.5(DKC1):c.884C>T (p.Ser295Phe)
NM_001363.5(DKC1):c.975C>T (p.Asp325=) rs374103494
NM_001363.5(DKC1):c.976G>A (p.Gly326Ser)
NM_001363.5(DKC1):c.978C>T (p.Gly326=)
NM_001363.5(DKC1):c.97G>A (p.Ala33Thr)
NM_017838.3(NHP2):c.109C>T (p.Pro37Ser) rs201390429
NM_017838.3(NHP2):c.143A>G (p.Tyr48Cys) rs200150979
NM_017838.3(NHP2):c.160+10A>T rs376220034
NM_017838.3(NHP2):c.160+4A>C rs1419452406
NM_017838.3(NHP2):c.190G>A (p.Val64Met) rs79031130
NM_017838.3(NHP2):c.19G>C (p.Asp7His) rs1581138326
NM_017838.3(NHP2):c.230+3dup rs1581137979
NM_017838.3(NHP2):c.233T>A (p.Ile78Asn) rs1348885486
NM_017838.3(NHP2):c.237G>A (p.Met79Ile) rs1561644268
NM_017838.3(NHP2):c.270A>G (p.Val90=) rs148179279
NM_017838.3(NHP2):c.289A>G (p.Met97Val) rs372840247
NM_017838.3(NHP2):c.290T>C (p.Met97Thr) rs147530082
NM_017838.3(NHP2):c.302G>A (p.Arg101Gln) rs145890370
NM_017838.3(NHP2):c.67A>G (p.Thr23Ala) rs1196159721
NM_017838.3(NHP2):c.72C>T (p.Tyr24=) rs202221169
NM_017838.4(NHP2):c.106dup (p.Gln36fs)
NM_017838.4(NHP2):c.116C>A (p.Ala39Asp)
NM_017838.4(NHP2):c.122_129del (p.Arg41fs)
NM_017838.4(NHP2):c.163G>A (p.Val55Met)
NM_017838.4(NHP2):c.181C>T (p.Arg61Trp)
NM_017838.4(NHP2):c.182G>A (p.Arg61Gln)
NM_017838.4(NHP2):c.187G>C (p.Gly63Arg)
NM_017838.4(NHP2):c.215A>G (p.Asn72Ser)
NM_017838.4(NHP2):c.25G>A (p.Asp9Asn)
NM_017838.4(NHP2):c.289_290del (p.Met97fs)
NM_017838.4(NHP2):c.292T>G (p.Cys98Gly)
NM_017838.4(NHP2):c.335C>T (p.Thr112Met)
NM_017838.4(NHP2):c.394C>T (p.His132Tyr)
NM_017838.4(NHP2):c.397_399GAG[1] (p.Glu134del)
NM_017838.4(NHP2):c.441G>T (p.Gln147His)
NM_017838.4(NHP2):c.70T>A (p.Tyr24Asn)
NM_022762.5(RMND5B):c.*1748_*1755dup rs755460344
NM_022762.5(RMND5B):c.*1760A>G rs759145032
NM_022762.5(RMND5B):c.*1774G>A rs375285426
NM_022762.5(RMND5B):c.*1791C>T rs139588879
NM_022762.5(RMND5B):c.*1792G>A rs115334254
NM_025099.6(CTC1):c.1007T>C (p.Met336Thr)
NM_025099.6(CTC1):c.1025A>G (p.Asp342Gly) rs78390421
NM_025099.6(CTC1):c.1045C>T (p.Leu349Phe) rs745499039
NM_025099.6(CTC1):c.1052G>A (p.Arg351Gln) rs371166242
NM_025099.6(CTC1):c.1065_1069CCTAT[1] (p.Ser357fs)
NM_025099.6(CTC1):c.1068A>G (p.Leu356=) rs756221416
NM_025099.6(CTC1):c.1076C>T (p.Ser359Leu) rs561782597
NM_025099.6(CTC1):c.1094T>C (p.Val365Ala)
NM_025099.6(CTC1):c.1107C>T (p.Pro369=) rs576049782
NM_025099.6(CTC1):c.1120G>A (p.Glu374Lys)
NM_025099.6(CTC1):c.1147C>T (p.Leu383Phe)
NM_025099.6(CTC1):c.1165C>T (p.Arg389Cys)
NM_025099.6(CTC1):c.1166G>A (p.Arg389His) rs758605320
NM_025099.6(CTC1):c.1178G>A (p.Arg393Gln) rs755414520
NM_025099.6(CTC1):c.1184T>C (p.Met395Thr)
NM_025099.6(CTC1):c.1185_1186delinsAG (p.Met395_Arg396delinsIleGly)
NM_025099.6(CTC1):c.1186C>T (p.Arg396Ter) rs764019241
NM_025099.6(CTC1):c.1199G>A (p.Cys400Tyr) rs1483913680
NM_025099.6(CTC1):c.1207-4C>T rs369904656
NM_025099.6(CTC1):c.1207-7C>A rs746123381
NM_025099.6(CTC1):c.1240G>T (p.Gly414Trp) rs375293707
NM_025099.6(CTC1):c.1241G>A (p.Gly414Glu)
NM_025099.6(CTC1):c.1241G>C (p.Gly414Ala) rs62624978
NM_025099.6(CTC1):c.1265C>T (p.Ala422Val)
NM_025099.6(CTC1):c.126A>G (p.Val42=) rs116271319
NM_025099.6(CTC1):c.1280G>T (p.Gly427Val) rs781203515
NM_025099.6(CTC1):c.1285G>A (p.Val429Ile)
NM_025099.6(CTC1):c.1297A>G (p.Ser433Gly) rs1391872586
NM_025099.6(CTC1):c.1307G>A (p.Arg436His) rs75790638
NM_025099.6(CTC1):c.1331C>T (p.Ser444Phe)
NM_025099.6(CTC1):c.1333C>T (p.Arg445Cys)
NM_025099.6(CTC1):c.1348G>A (p.Ala450Thr)
NM_025099.6(CTC1):c.1366C>T (p.Leu456=) rs529158574
NM_025099.6(CTC1):c.1379G>A (p.Arg460His)
NM_025099.6(CTC1):c.1383G>A (p.Gln461=) rs145192682
NM_025099.6(CTC1):c.139A>G (p.Lys47Glu) rs544760936
NM_025099.6(CTC1):c.13C>G (p.Arg5Gly) rs201280372
NM_025099.6(CTC1):c.13C>T (p.Arg5Trp) rs201280372
NM_025099.6(CTC1):c.1401C>T (p.Tyr467=) rs150409406
NM_025099.6(CTC1):c.1440G>T (p.Lys480Asn)
NM_025099.6(CTC1):c.1459A>G (p.Arg487Gly) rs747887601
NM_025099.6(CTC1):c.147C>T (p.Val49=) rs201492796
NM_025099.6(CTC1):c.1500C>T (p.Pro500=) rs761750183
NM_025099.6(CTC1):c.1525C>T (p.Pro509Ser)
NM_025099.6(CTC1):c.1528A>G (p.Thr510Ala)
NM_025099.6(CTC1):c.1530C>T (p.Thr510=) rs376217684
NM_025099.6(CTC1):c.1547C>T (p.Pro516Leu)
NM_025099.6(CTC1):c.1548G>A (p.Pro516=) rs781000475
NM_025099.6(CTC1):c.1558C>G (p.Pro520Ala)
NM_025099.6(CTC1):c.1564C>T (p.Arg522Trp) rs199698527
NM_025099.6(CTC1):c.1585C>A (p.Leu529Ile) rs201560353
NM_025099.6(CTC1):c.1602C>A (p.His534Gln) rs1421770599
NM_025099.6(CTC1):c.1624C>T (p.Arg542Trp)
NM_025099.6(CTC1):c.1625G>A (p.Arg542Gln) rs776684484
NM_025099.6(CTC1):c.1667AAG[2] (p.Glu558del)
NM_025099.6(CTC1):c.1669G>A (p.Glu557Lys)
NM_025099.6(CTC1):c.1681C>A (p.Arg561Ser) rs202212634
NM_025099.6(CTC1):c.1682G>C (p.Arg561Pro) rs373690929
NM_025099.6(CTC1):c.1697C>G (p.Ser566Cys)
NM_025099.6(CTC1):c.170A>G (p.Gln57Arg) rs371868360
NM_025099.6(CTC1):c.1710G>A (p.Lys570=)
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser) rs200440641
NM_025099.6(CTC1):c.1728G>A (p.Pro576=) rs78320653
NM_025099.6(CTC1):c.1734C>T (p.Ala578=) rs374985738
NM_025099.6(CTC1):c.173G>A (p.Gly58Asp)
NM_025099.6(CTC1):c.1748G>A (p.Ser583Asn) rs568980956
NM_025099.6(CTC1):c.1760A>G (p.Asn587Ser) rs376302717
NM_025099.6(CTC1):c.1765C>T (p.Arg589Cys)
NM_025099.6(CTC1):c.1766G>A (p.Arg589His)
NM_025099.6(CTC1):c.1794G>A (p.Leu598=) rs1171819624
NM_025099.6(CTC1):c.1795C>T (p.Pro599Ser) rs183556317
NM_025099.6(CTC1):c.17C>T (p.Ala6Val)
NM_025099.6(CTC1):c.1856G>T (p.Gly619Val)
NM_025099.6(CTC1):c.1859G>A (p.Cys620Tyr) rs766985115
NM_025099.6(CTC1):c.1870C>T (p.Arg624Trp) rs759039504
NM_025099.6(CTC1):c.189C>G (p.Leu63=) rs188658691
NM_025099.6(CTC1):c.1904T>G (p.Leu635Arg)
NM_025099.6(CTC1):c.1919A>C (p.Gln640Pro)
NM_025099.6(CTC1):c.1936C>T (p.Arg646Trp)
NM_025099.6(CTC1):c.1937G>A (p.Arg646Gln)
NM_025099.6(CTC1):c.1940T>A (p.Leu647Gln)
NM_025099.6(CTC1):c.194A>G (p.Tyr65Cys) rs201731405
NM_025099.6(CTC1):c.1957C>T (p.Arg653Trp) rs200222583
NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln) rs775779700
NM_025099.6(CTC1):c.195T>C (p.Tyr65=) rs764616648
NM_025099.6(CTC1):c.1974G>T (p.Gln658His)
NM_025099.6(CTC1):c.198-4A>G rs1597389646
NM_025099.6(CTC1):c.1981G>A (p.Val661Ile) rs534923467
NM_025099.6(CTC1):c.1990G>A (p.Asp664Asn)
NM_025099.6(CTC1):c.1993G>A (p.Val665Met)
NM_025099.6(CTC1):c.19C>T (p.Gln7Ter)
NM_025099.6(CTC1):c.2029A>G (p.Met677Val)
NM_025099.6(CTC1):c.202G>A (p.Val68Ile) rs1060499949
NM_025099.6(CTC1):c.2036G>A (p.Gly679Asp) rs201006130
NM_025099.6(CTC1):c.204C>T (p.Val68=) rs767705861
NM_025099.6(CTC1):c.2126C>G (p.Ser709Ter)
NM_025099.6(CTC1):c.2128G>A (p.Ala710Thr) rs1567604032
NM_025099.6(CTC1):c.2140A>C (p.Thr714Pro)
NM_025099.6(CTC1):c.2154T>A (p.Asp718Glu) rs62637610
NM_025099.6(CTC1):c.2160C>T (p.Thr720=) rs3027235
NM_025099.6(CTC1):c.2162G>C (p.Gly721Ala) rs62620189
NM_025099.6(CTC1):c.2174C>G (p.Pro725Arg)
NM_025099.6(CTC1):c.2178C>T (p.His726=) rs201146538
NM_025099.6(CTC1):c.2191C>T (p.Arg731Trp) rs781720954
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln) rs201891953
NM_025099.6(CTC1):c.21G>C (p.Gln7His) rs370153216
NM_025099.6(CTC1):c.2260C>G (p.Pro754Ala) rs370354906
NM_025099.6(CTC1):c.2266G>A (p.Val756Met) rs200779057
NM_025099.6(CTC1):c.2278G>A (p.Ala760Thr) rs139078502
NM_025099.6(CTC1):c.228C>T (p.His76=) rs531109382
NM_025099.6(CTC1):c.2291A>G (p.Tyr764Cys) rs376729433
NM_025099.6(CTC1):c.22G>C (p.Val8Leu)
NM_025099.6(CTC1):c.2307G>T (p.Trp769Cys) rs201879837
NM_025099.6(CTC1):c.2312G>A (p.Gly771Glu)
NM_025099.6(CTC1):c.2329G>C (p.Glu777Gln)
NM_025099.6(CTC1):c.233G>A (p.Arg78His) rs369627256
NM_025099.6(CTC1):c.2353G>A (p.Glu785Lys) rs201561504
NM_025099.6(CTC1):c.2356C>A (p.Pro786Thr) rs1026203083
NM_025099.6(CTC1):c.2370C>T (p.Asp790=) rs765241138
NM_025099.6(CTC1):c.2371G>A (p.Asp791Asn)
NM_025099.6(CTC1):c.2386-1G>A
NM_025099.6(CTC1):c.2407T>G (p.Ser803Ala)
NM_025099.6(CTC1):c.2421G>T (p.Trp807Cys) rs765221206
NM_025099.6(CTC1):c.2439G>A (p.Pro813=) rs200759730
NM_025099.6(CTC1):c.2441G>A (p.Gly814Glu) rs375914513
NM_025099.6(CTC1):c.2453G>T (p.Arg818Leu)
NM_025099.6(CTC1):c.2461G>T (p.Ala821Ser) rs771475755
NM_025099.6(CTC1):c.2472C>G (p.Pro824=) rs558802130
NM_025099.6(CTC1):c.2476-7C>T rs189539795
NM_025099.6(CTC1):c.2478A>G (p.Thr826=) rs200643329
NM_025099.6(CTC1):c.248G>A (p.Ser83Asn) rs78870822
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr) rs78870822
NM_025099.6(CTC1):c.248_251dup (p.His84fs) rs745467709
NM_025099.6(CTC1):c.2497G>C (p.Asp833His) rs754510180
NM_025099.6(CTC1):c.24C>T (p.Val8=) rs749818659
NM_025099.6(CTC1):c.2508C>G (p.Ser836=) rs146214808
NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp) rs373905859
NM_025099.6(CTC1):c.2521C>T (p.Arg841Cys)
NM_025099.6(CTC1):c.2522G>A (p.Arg841His)
NM_025099.6(CTC1):c.2524C>T (p.Pro842Ser)
NM_025099.6(CTC1):c.2546C>T (p.Ala849Val)
NM_025099.6(CTC1):c.2561_2573del (p.Val854fs)
NM_025099.6(CTC1):c.2575A>T (p.Thr859Ser) rs780809830
NM_025099.6(CTC1):c.258G>A (p.Ser86=) rs369789111
NM_025099.6(CTC1):c.25C>T (p.Pro9Ser) rs1034774367
NM_025099.6(CTC1):c.2602A>G (p.Ile868Val) rs1555532937
NM_025099.6(CTC1):c.2653G>T (p.Asp885Tyr) rs370102181
NM_025099.6(CTC1):c.2670-3C>G
NM_025099.6(CTC1):c.2670-7C>T rs750034989
NM_025099.6(CTC1):c.2686G>T (p.Val896Leu) rs761241839
NM_025099.6(CTC1):c.2697C>T (p.Ser899=) rs551850837
NM_025099.6(CTC1):c.26C>T (p.Pro9Leu)
NM_025099.6(CTC1):c.2729C>A (p.Pro910His)
NM_025099.6(CTC1):c.2737G>A (p.Ala913Thr)
NM_025099.6(CTC1):c.2738C>T (p.Ala913Val) rs771428933
NM_025099.6(CTC1):c.2739G>A (p.Ala913=) rs745541560
NM_025099.6(CTC1):c.2750T>G (p.Met917Arg)
NM_025099.6(CTC1):c.2758+1G>T rs200609323
NM_025099.6(CTC1):c.2758+4A>G
NM_025099.6(CTC1):c.2767G>T (p.Gly923Trp) rs771646414
NM_025099.6(CTC1):c.2770G>A (p.Ala924Thr) rs376358881
NM_025099.6(CTC1):c.277C>T (p.Gln93Ter) rs767991627
NM_025099.6(CTC1):c.2785G>A (p.Val929Met)
NM_025099.6(CTC1):c.2800G>A (p.Ala934Thr)
NM_025099.6(CTC1):c.2803C>T (p.Leu935Phe) rs542477730
NM_025099.6(CTC1):c.2809A>T (p.Thr937Ser)
NM_025099.6(CTC1):c.2828C>T (p.Pro943Leu) rs376216833
NM_025099.6(CTC1):c.2831del (p.Pro944fs) rs199473677
NM_025099.6(CTC1):c.2831dup (p.His945fs)
NM_025099.6(CTC1):c.2866C>T (p.Pro956Ser)
NM_025099.6(CTC1):c.286G>A (p.Ala96Thr) rs751570124
NM_025099.6(CTC1):c.286G>T (p.Ala96Ser)
NM_025099.6(CTC1):c.2881C>G (p.Leu961Val) rs1567600596
NM_025099.6(CTC1):c.2888del (p.Pro963fs)
NM_025099.6(CTC1):c.2894C>T (p.Ala965Val)
NM_025099.6(CTC1):c.2895C>T (p.Ala965=) rs373530008
NM_025099.6(CTC1):c.2896C>T (p.Arg966Trp)
NM_025099.6(CTC1):c.2933+3G>A rs878855127
NM_025099.6(CTC1):c.2951_2953GTT[1] (p.Cys985del) rs199473679
NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp) rs202138550
NM_025099.6(CTC1):c.2960G>A (p.Arg987Gln)
NM_025099.6(CTC1):c.2973T>C (p.Tyr991=) rs62637613
NM_025099.6(CTC1):c.2973T>G (p.Tyr991Ter)
NM_025099.6(CTC1):c.2993C>T (p.Pro998Leu)
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs) rs761922947
NM_025099.6(CTC1):c.29C>G (p.Ser10Cys)
NM_025099.6(CTC1):c.3011+3C>T
NM_025099.6(CTC1):c.3019del (p.Leu1007fs)
NM_025099.6(CTC1):c.3049C>T (p.Gln1017Ter) rs1567599296
NM_025099.6(CTC1):c.3074C>T (p.Ala1025Val) rs183966301
NM_025099.6(CTC1):c.3079G>A (p.Ala1027Thr)
NM_025099.6(CTC1):c.3087C>T (p.Cys1029=) rs775991134
NM_025099.6(CTC1):c.3099dup (p.Val1034fs) rs1597374251
NM_025099.6(CTC1):c.3151C>T (p.Arg1051Trp)
NM_025099.6(CTC1):c.3153G>C (p.Arg1051=) rs3027242
NM_025099.6(CTC1):c.3156+6G>A rs1597374105
NM_025099.6(CTC1):c.3169C>T (p.Arg1057Cys) rs376349076
NM_025099.6(CTC1):c.3170G>A (p.Arg1057His)
NM_025099.6(CTC1):c.3173T>G (p.Leu1058Arg) rs146536910
NM_025099.6(CTC1):c.3190A>G (p.Thr1064Ala) rs777357385
NM_025099.6(CTC1):c.3196A>T (p.Thr1066Ser)
NM_025099.6(CTC1):c.320C>G (p.Pro107Arg) rs760362880
NM_025099.6(CTC1):c.3222-4A>G rs562479062
NM_025099.6(CTC1):c.322C>T (p.Arg108Ter)
NM_025099.6(CTC1):c.323G>A (p.Arg108Gln) rs368398609
NM_025099.6(CTC1):c.3247G>A (p.Glu1083Lys) rs201885165
NM_025099.6(CTC1):c.3253G>A (p.Val1085Met) rs1209523245
NM_025099.6(CTC1):c.3253G>C (p.Val1085Leu) rs1209523245
NM_025099.6(CTC1):c.3269A>G (p.Asn1090Ser) rs368562418
NM_025099.6(CTC1):c.3271C>T (p.His1091Tyr) rs1358175667
NM_025099.6(CTC1):c.3272A>G (p.His1091Arg) rs1597373397
NM_025099.6(CTC1):c.3275A>G (p.His1092Arg)
NM_025099.6(CTC1):c.3280G>A (p.Ala1094Thr)
NM_025099.6(CTC1):c.3281C>T (p.Ala1094Val) rs536983035
NM_025099.6(CTC1):c.3286G>A (p.Ala1096Thr)
NM_025099.6(CTC1):c.33+4A>G
NM_025099.6(CTC1):c.3301C>A (p.Pro1101Thr) rs1597373346
NM_025099.6(CTC1):c.3317C>A (p.Ser1106Tyr) rs367822614
NM_025099.6(CTC1):c.3323T>C (p.Leu1108Pro)
NM_025099.6(CTC1):c.3326A>G (p.Asp1109Gly)
NM_025099.6(CTC1):c.3331G>C (p.Val1111Leu) rs374284337
NM_025099.6(CTC1):c.3340C>T (p.Pro1114Ser)
NM_025099.6(CTC1):c.3384T>C (p.Leu1128=) rs945189616
NM_025099.6(CTC1):c.34-9T>G rs201195157
NM_025099.6(CTC1):c.3403G>A (p.Asp1135Asn) rs755212243
NM_025099.6(CTC1):c.3413T>A (p.Met1138Lys) rs376216450
NM_025099.6(CTC1):c.3420G>A (p.Met1140Ile)
NM_025099.6(CTC1):c.3421T>C (p.Phe1141Leu) rs1302492698
NM_025099.6(CTC1):c.3432A>C (p.Thr1144=) rs1285633618
NM_025099.6(CTC1):c.3458G>A (p.Arg1153His)
NM_025099.6(CTC1):c.3458G>C (p.Arg1153Pro) rs748674791
NM_025099.6(CTC1):c.3463A>G (p.Ile1155Val)
NM_025099.6(CTC1):c.3495G>A (p.Pro1165=) rs556097361
NM_025099.6(CTC1):c.3498G>A (p.Ser1166=) rs369209127
NM_025099.6(CTC1):c.3515-10C>T rs200225342
NM_025099.6(CTC1):c.3524G>A (p.Arg1175Gln) rs201788219
NM_025099.6(CTC1):c.3532C>T (p.Arg1178Ter) rs200919310
NM_025099.6(CTC1):c.3567C>G (p.His1189Gln)
NM_025099.6(CTC1):c.3567C>T (p.His1189=) rs374942931
NM_025099.6(CTC1):c.3568G>A (p.Val1190Met)
NM_025099.6(CTC1):c.3591C>G (p.Ser1197=) rs115990839
NM_025099.6(CTC1):c.3604C>T (p.Arg1202Ter) rs147714487
NM_025099.6(CTC1):c.3605G>A (p.Arg1202Gln) rs778830884
NM_025099.6(CTC1):c.3620C>T (p.Ser1207Phe)
NM_025099.6(CTC1):c.366A>G (p.Ala122=) rs73244859
NM_025099.6(CTC1):c.391G>A (p.Gly131Arg) rs200137992
NM_025099.6(CTC1):c.421G>A (p.Val141Ile)
NM_025099.6(CTC1):c.440del (p.Ile147fs) rs1196342305
NM_025099.6(CTC1):c.444C>A (p.Asp148Glu) rs542910040
NM_025099.6(CTC1):c.448G>A (p.Asp150Asn) rs374418436
NM_025099.6(CTC1):c.455C>G (p.Ser152Cys)
NM_025099.6(CTC1):c.466C>G (p.His156Asp)
NM_025099.6(CTC1):c.470T>C (p.Leu157Pro)
NM_025099.6(CTC1):c.477G>T (p.Leu159=) rs200658590
NM_025099.6(CTC1):c.484C>T (p.Arg162Cys)
NM_025099.6(CTC1):c.502C>T (p.Pro168Ser) rs1385087993
NM_025099.6(CTC1):c.503C>A (p.Pro168His) rs1567613854
NM_025099.6(CTC1):c.505G>A (p.Ala169Thr) rs757366100
NM_025099.6(CTC1):c.52G>C (p.Asp18His)
NM_025099.6(CTC1):c.547G>A (p.Asp183Asn) rs751596403
NM_025099.6(CTC1):c.556G>C (p.Val186Leu) rs185346402
NM_025099.6(CTC1):c.562G>A (p.Val188Met)
NM_025099.6(CTC1):c.597G>A (p.Thr199=) rs373023392
NM_025099.6(CTC1):c.599C>T (p.Pro200Leu)
NM_025099.6(CTC1):c.615C>T (p.Tyr205=) rs571035242
NM_025099.6(CTC1):c.662G>A (p.Gly221Asp)
NM_025099.6(CTC1):c.663T>C (p.Gly221=) rs138725914
NM_025099.6(CTC1):c.695G>A (p.Arg232Gln) rs201592575
NM_025099.6(CTC1):c.724_727del (p.Lys242fs) rs199473674
NM_025099.6(CTC1):c.738C>G (p.Ile246Met) rs1463129527
NM_025099.6(CTC1):c.745C>T (p.Leu249Phe)
NM_025099.6(CTC1):c.775G>A (p.Val259Met) rs387907080
NM_025099.6(CTC1):c.787G>C (p.Val263Leu)
NM_025099.6(CTC1):c.799G>A (p.Ala267Thr)
NM_025099.6(CTC1):c.827G>A (p.Arg276Gln)
NM_025099.6(CTC1):c.833G>T (p.Gly278Val) rs768853291
NM_025099.6(CTC1):c.843T>C (p.Tyr281=) rs367935180
NM_025099.6(CTC1):c.855A>C (p.Glu285Asp)
NM_025099.6(CTC1):c.862G>A (p.Val288Met) rs201553464
NM_025099.6(CTC1):c.873C>G (p.Ile291Met)
NM_025099.6(CTC1):c.878G>C (p.Gly293Ala)
NM_025099.6(CTC1):c.883C>T (p.Arg295Cys)
NM_025099.6(CTC1):c.888G>T (p.Gln296His) rs199553763
NM_025099.6(CTC1):c.8C>G (p.Ala3Gly) rs923853643
NM_025099.6(CTC1):c.8C>T (p.Ala3Val) rs923853643
NM_025099.6(CTC1):c.903C>T (p.Thr301=) rs1597385951
NM_025099.6(CTC1):c.917G>A (p.Arg306His)

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