ClinVar Miner

List of variants reported as uncertain significance for Dyskeratosis congenita by Invitae

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Minimum conflict level:
ClinVar version:
Total variants: 1029
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HGVS dbSNP gnomAD frequency
NM_017838.4(NHP2):c.190G>A (p.Val64Met) rs79031130 0.00038
NM_025099.6(CTC1):c.2803C>T (p.Leu935Phe) rs542477730 0.00035
NM_025099.6(CTC1):c.194A>G (p.Tyr65Cys) rs201731405 0.00031
NM_025099.6(CTC1):c.2506T>C (p.Ser836Pro) rs62637612 0.00024
NM_025099.6(CTC1):c.3463A>G (p.Ile1155Val) rs571554235 0.00022
NM_001099274.3(TINF2):c.507+6G>A rs142144996 0.00020
NM_025099.6(CTC1):c.3340C>T (p.Pro1114Ser) rs370564569 0.00019
NM_025099.6(CTC1):c.1760A>G (p.Asn587Ser) rs376302717 0.00015
NM_001099274.3(TINF2):c.1073_1081dup (p.Tyr360_Met361insAsnCysTyr) rs776727691 0.00014
NM_001099274.3(TINF2):c.127G>A (p.Ala43Thr) rs35653076 0.00014
NM_025099.6(CTC1):c.3151C>T (p.Arg1051Trp) rs370674203 0.00014
NM_001099274.3(TINF2):c.371C>T (p.Ala124Val) rs369712095 0.00013
NM_025099.6(CTC1):c.3083C>T (p.Ser1028Phe) rs779906449 0.00013
NM_001099274.3(TINF2):c.403C>T (p.Leu135Phe) rs199740488 0.00012
NM_025099.6(CTC1):c.2767G>T (p.Gly923Trp) rs771646414 0.00011
NM_001099274.3(TINF2):c.1030C>T (p.Pro344Ser) rs200454893 0.00010
NM_025099.6(CTC1):c.3317C>A (p.Ser1106Tyr) rs367822614 0.00010
NM_001099274.3(TINF2):c.1081A>G (p.Met361Val) rs201787600 0.00009
NM_017838.4(NHP2):c.394C>T (p.His132Tyr) rs146766601 0.00009
NM_025099.6(CTC1):c.2307G>T (p.Trp769Cys) rs201879837 0.00009
NM_025099.6(CTC1):c.3247G>A (p.Glu1083Lys) rs201885165 0.00009
NM_025099.6(CTC1):c.50A>G (p.Glu17Gly) rs200054513 0.00009
NM_001099274.3(TINF2):c.1307C>T (p.Ala436Val) rs369249473 0.00008
NM_001099274.3(TINF2):c.590G>A (p.Gly197Glu) rs540798467 0.00008
NM_025099.6(CTC1):c.1379G>A (p.Arg460His) rs200619397 0.00008
NM_025099.6(CTC1):c.2896C>T (p.Arg966Trp) rs200208356 0.00008
NM_025099.6(CTC1):c.3605G>A (p.Arg1202Gln) rs778830884 0.00008
NM_025099.6(CTC1):c.484C>T (p.Arg162Cys) rs367666200 0.00008
NM_025099.6(CTC1):c.616C>G (p.Pro206Ala) rs778922727 0.00008
NM_025099.6(CTC1):c.878G>C (p.Gly293Ala) rs377324497 0.00008
NM_025099.6(CTC1):c.1052G>A (p.Arg351Gln) rs371166242 0.00007
NM_025099.6(CTC1):c.2278G>A (p.Ala760Thr) rs139078502 0.00007
NM_025099.6(CTC1):c.2611G>A (p.Val871Met) rs369255297 0.00007
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly) rs199473678 0.00007
NM_025099.6(CTC1):c.3191C>T (p.Thr1064Met) rs1001797761 0.00007
NM_001099274.3(TINF2):c.62A>G (p.Gln21Arg) rs367835995 0.00006
NM_001099274.3(TINF2):c.936C>A (p.Tyr312Ter) rs201677741 0.00006
NM_001363.5(DKC1):c.97G>A (p.Ala33Thr) rs372511229 0.00006
NM_017838.4(NHP2):c.289A>G (p.Met97Val) rs372840247 0.00006
NM_017838.4(NHP2):c.290T>C (p.Met97Thr) rs147530082 0.00006
NM_017838.4(NHP2):c.328T>A (p.Ser110Thr) rs780696831 0.00006
NM_025099.6(CTC1):c.1264G>A (p.Ala422Thr) rs369078832 0.00006
NM_025099.6(CTC1):c.1274T>C (p.Leu425Pro) rs371812914 0.00006
NM_025099.6(CTC1):c.1378C>T (p.Arg460Cys) rs561676622 0.00006
NM_025099.6(CTC1):c.1765C>T (p.Arg589Cys) rs759152295 0.00006
NM_025099.6(CTC1):c.1957C>T (p.Arg653Trp) rs200222583 0.00006
NM_025099.6(CTC1):c.257C>T (p.Ser86Leu) rs778742090 0.00006
NM_025099.6(CTC1):c.3326A>G (p.Asp1109Gly) rs202226502 0.00006
NM_025099.6(CTC1):c.3337G>A (p.Val1113Met) rs543241073 0.00006
NM_025099.6(CTC1):c.596C>T (p.Thr199Met) rs747323535 0.00006
NM_025099.6(CTC1):c.884G>A (p.Arg295His) rs763386935 0.00006
NM_001099274.3(TINF2):c.1253T>C (p.Phe418Ser) rs773286175 0.00005
NM_001099274.3(TINF2):c.318G>C (p.Lys106Asn) rs765992492 0.00005
NM_001099274.3(TINF2):c.61C>G (p.Gln21Glu) rs767648367 0.00005
NM_001363.5(DKC1):c.259A>G (p.Ile87Val) rs782202263 0.00005
NM_025099.6(CTC1):c.1051C>T (p.Arg351Trp) rs374781255 0.00005
NM_025099.6(CTC1):c.1076C>T (p.Ser359Leu) rs561782597 0.00005
NM_025099.6(CTC1):c.1565G>A (p.Arg522Gln) rs375999182 0.00005
NM_025099.6(CTC1):c.17C>T (p.Ala6Val) rs371541763 0.00005
NM_025099.6(CTC1):c.1904T>G (p.Leu635Arg) rs763326051 0.00005
NM_025099.6(CTC1):c.198-3C>T rs761189766 0.00005
NM_025099.6(CTC1):c.1981G>A (p.Val661Ile) rs534923467 0.00005
NM_025099.6(CTC1):c.2800G>A (p.Ala934Thr) rs369721966 0.00005
NM_025099.6(CTC1):c.3281C>T (p.Ala1094Val) rs536983035 0.00005
NM_025099.6(CTC1):c.3286G>A (p.Ala1096Thr) rs748072446 0.00005
NM_025099.6(CTC1):c.3524G>A (p.Arg1175Gln) rs201788219 0.00005
NM_025099.6(CTC1):c.562G>A (p.Val188Met) rs769331687 0.00005
NM_025099.6(CTC1):c.827G>A (p.Arg276Gln) rs761903168 0.00005
NM_025099.6(CTC1):c.873C>G (p.Ile291Met) rs199900567 0.00005
NM_025099.6(CTC1):c.887A>G (p.Gln296Arg) rs746829533 0.00005
NM_001099274.3(TINF2):c.500C>T (p.Ala167Val) rs562843857 0.00004
NM_001099274.3(TINF2):c.507+5C>T rs761308889 0.00004
NM_001099274.3(TINF2):c.767G>A (p.Arg256Gln) rs779837822 0.00004
NM_001363.5(DKC1):c.1349A>T (p.Glu450Val) rs782631659 0.00004
NM_001363.5(DKC1):c.84C>T (p.Ala28=) rs142474971 0.00004
NM_017838.4(NHP2):c.335C>T (p.Thr112Met) rs768262654 0.00004
NM_017838.4(NHP2):c.441G>T (p.Gln147His) rs757655789 0.00004
NM_025099.6(CTC1):c.1028A>G (p.Lys343Arg) rs746477108 0.00004
NM_025099.6(CTC1):c.1043G>A (p.Ser348Asn) rs372396041 0.00004
NM_025099.6(CTC1):c.139A>G (p.Lys47Glu) rs544760936 0.00004
NM_025099.6(CTC1):c.1682G>A (p.Arg561His) rs373690929 0.00004
NM_025099.6(CTC1):c.1727C>T (p.Pro576Leu) rs755218326 0.00004
NM_025099.6(CTC1):c.1936C>T (p.Arg646Trp) rs780151711 0.00004
NM_025099.6(CTC1):c.1990G>A (p.Asp664Asn) rs747911941 0.00004
NM_025099.6(CTC1):c.202G>A (p.Val68Ile) rs1060499949 0.00004
NM_025099.6(CTC1):c.2260C>G (p.Pro754Ala) rs370354906 0.00004
NM_025099.6(CTC1):c.2653G>A (p.Asp885Asn) rs370102181 0.00004
NM_025099.6(CTC1):c.3176G>T (p.Gly1059Val) rs957741030 0.00004
NM_025099.6(CTC1):c.3505G>A (p.Val1169Ile) rs377491661 0.00004
NM_025099.6(CTC1):c.547G>T (p.Asp183Tyr) rs751596403 0.00004
NM_001099274.3(TINF2):c.1221+1G>C rs374008344 0.00003
NM_001099274.3(TINF2):c.1221+3G>C rs762455414 0.00003
NM_001099274.3(TINF2):c.278T>C (p.Ile93Thr) rs762140055 0.00003
NM_001099274.3(TINF2):c.28G>T (p.Ala10Ser) rs746625511 0.00003
NM_001099274.3(TINF2):c.640C>T (p.Pro214Ser) rs372610524 0.00003
NM_001363.5(DKC1):c.1471G>A (p.Asp491Asn) rs782598355 0.00003
NM_017838.4(NHP2):c.109C>T (p.Pro37Ser) rs201390429 0.00003
NM_017838.4(NHP2):c.388_395dup (p.His132fs) rs755460344 0.00003
NM_025099.6(CTC1):c.1045C>T (p.Leu349Phe) rs745499039 0.00003
NM_025099.6(CTC1):c.1108G>A (p.Ala370Thr) rs771759195 0.00003
NM_025099.6(CTC1):c.1177C>T (p.Arg393Trp) rs767962215 0.00003
NM_025099.6(CTC1):c.1178G>A (p.Arg393Gln) rs755414520 0.00003
NM_025099.6(CTC1):c.1240G>T (p.Gly414Trp) rs375293707 0.00003
NM_025099.6(CTC1):c.1265C>T (p.Ala422Val) rs532962550 0.00003
NM_025099.6(CTC1):c.1276C>T (p.Arg426Cys) rs367898339 0.00003
NM_025099.6(CTC1):c.1585C>A (p.Leu529Ile) rs201560353 0.00003
NM_025099.6(CTC1):c.1625G>A (p.Arg542Gln) rs776684484 0.00003
NM_025099.6(CTC1):c.2012C>G (p.Ser671Cys) rs764799661 0.00003
NM_025099.6(CTC1):c.2036G>A (p.Gly679Asp) rs201006130 0.00003
NM_025099.6(CTC1):c.2191C>T (p.Arg731Trp) rs781720954 0.00003
NM_025099.6(CTC1):c.2266G>A (p.Val756Met) rs200779057 0.00003
NM_025099.6(CTC1):c.2453G>A (p.Arg818Gln) rs772328631 0.00003
NM_025099.6(CTC1):c.2497G>C (p.Asp833His) rs754510180 0.00003
NM_025099.6(CTC1):c.2575A>T (p.Thr859Ser) rs780809830 0.00003
NM_025099.6(CTC1):c.268A>G (p.Ser90Gly) rs371308970 0.00003
NM_025099.6(CTC1):c.2770G>A (p.Ala924Thr) rs376358881 0.00003
NM_025099.6(CTC1):c.2942A>G (p.Asn981Ser) rs375371933 0.00003
NM_001099274.3(TINF2):c.1062-3C>T rs1176026210 0.00002
NM_001099274.3(TINF2):c.1084G>C (p.Asp362His) rs371044766 0.00002
NM_001099274.3(TINF2):c.1222-3C>A rs760553298 0.00002
NM_001099274.3(TINF2):c.1312C>G (p.Pro438Ala) rs1359891417 0.00002
NM_001099274.3(TINF2):c.302A>G (p.Lys101Arg) rs1375036989 0.00002
NM_001363.5(DKC1):c.1451A>C (p.Glu484Ala) rs781923825 0.00002
NM_001363.5(DKC1):c.64T>G (p.Leu22Val) rs781849751 0.00002
NM_017838.4(NHP2):c.138G>C (p.Lys46Asn) rs761328868 0.00002
NM_017838.4(NHP2):c.289_290del (p.Met97fs) rs762821341 0.00002
NM_017838.4(NHP2):c.70T>A (p.Tyr24Asn) rs757358075 0.00002
NM_025099.6(CTC1):c.1007T>C (p.Met336Thr) rs376721027 0.00002
NM_025099.6(CTC1):c.1147C>T (p.Leu383Phe) rs199532891 0.00002
NM_025099.6(CTC1):c.1166G>A (p.Arg389His) rs758605320 0.00002
NM_025099.6(CTC1):c.1343A>G (p.Tyr448Cys) rs779866795 0.00002
NM_025099.6(CTC1):c.1525C>T (p.Pro509Ser) rs369917627 0.00002
NM_025099.6(CTC1):c.1558C>G (p.Pro520Ala) rs371714831 0.00002
NM_025099.6(CTC1):c.1624C>T (p.Arg542Trp) rs901245332 0.00002
NM_025099.6(CTC1):c.196A>G (p.Ser66Gly) rs1366348022 0.00002
NM_025099.6(CTC1):c.2371G>A (p.Asp791Asn) rs754090012 0.00002
NM_025099.6(CTC1):c.2441G>A (p.Gly814Glu) rs375914513 0.00002
NM_025099.6(CTC1):c.2557A>G (p.Thr853Ala) rs758218109 0.00002
NM_025099.6(CTC1):c.2785G>A (p.Val929Met) rs778339506 0.00002
NM_025099.6(CTC1):c.3007A>G (p.Ile1003Val) rs758498343 0.00002
NM_025099.6(CTC1):c.3169C>T (p.Arg1057Cys) rs376349076 0.00002
NM_025099.6(CTC1):c.3170G>A (p.Arg1057His) rs776956576 0.00002
NM_025099.6(CTC1):c.3173T>G (p.Leu1058Arg) rs146536910 0.00002
NM_025099.6(CTC1):c.3196A>T (p.Thr1066Ser) rs373875495 0.00002
NM_025099.6(CTC1):c.3222G>C (p.Arg1074Ser) rs1393187047 0.00002
NM_025099.6(CTC1):c.3494C>T (p.Pro1165Leu) rs766537691 0.00002
NM_025099.6(CTC1):c.3532C>T (p.Arg1178Ter) rs200919310 0.00002
NM_025099.6(CTC1):c.448G>A (p.Asp150Asn) rs374418436 0.00002
NM_025099.6(CTC1):c.500C>T (p.Pro167Leu) rs1390966539 0.00002
NM_025099.6(CTC1):c.647+4A>G rs751360780 0.00002
NM_025099.6(CTC1):c.738C>G (p.Ile246Met) rs1463129527 0.00002
NM_025099.6(CTC1):c.874C>T (p.Arg292Cys) rs1013688033 0.00002
NM_025099.6(CTC1):c.8C>G (p.Ala3Gly) rs923853643 0.00002
NM_025099.6(CTC1):c.980T>C (p.Leu327Ser) rs902038280 0.00002
NM_001099274.3(TINF2):c.1076G>A (p.Cys359Tyr) rs368350757 0.00001
NM_001099274.3(TINF2):c.1139C>T (p.Pro380Leu) rs201422008 0.00001
NM_001099274.3(TINF2):c.1156G>A (p.Val386Ile) rs749534744 0.00001
NM_001099274.3(TINF2):c.1222G>C (p.Glu408Gln) rs1594548909 0.00001
NM_001099274.3(TINF2):c.128C>A (p.Ala43Asp) rs771709910 0.00001
NM_001099274.3(TINF2):c.1291C>A (p.Pro431Thr) rs756840009 0.00001
NM_001099274.3(TINF2):c.1309A>G (p.Ile437Val) rs777060713 0.00001
NM_001099274.3(TINF2):c.1313C>T (p.Pro438Leu) rs1184256281 0.00001
NM_001099274.3(TINF2):c.1337A>T (p.Asp446Val) rs532096263 0.00001
NM_001099274.3(TINF2):c.144_145insTT (p.Val49fs) rs1334044756 0.00001
NM_001099274.3(TINF2):c.166C>G (p.Arg56Gly) rs753814680 0.00001
NM_001099274.3(TINF2):c.167G>A (p.Arg56His) rs777925529 0.00001
NM_001099274.3(TINF2):c.251A>G (p.Asn84Ser) rs1043122818 0.00001
NM_001099274.3(TINF2):c.253C>G (p.His85Asp) rs758462532 0.00001
NM_001099274.3(TINF2):c.364T>A (p.Ser122Thr) rs776604725 0.00001
NM_001099274.3(TINF2):c.388T>C (p.Ser130Pro) rs959871602 0.00001
NM_001099274.3(TINF2):c.389C>T (p.Ser130Leu) rs746984199 0.00001
NM_001099274.3(TINF2):c.400G>A (p.Glu134Lys) rs1429817346 0.00001
NM_001099274.3(TINF2):c.598C>T (p.Leu200Phe) rs772502368 0.00001
NM_001099274.3(TINF2):c.621C>G (p.Asp207Glu) rs775914928 0.00001
NM_001099274.3(TINF2):c.622T>C (p.Ser208Pro) rs377436580 0.00001
NM_001099274.3(TINF2):c.631C>G (p.Leu211Val) rs746287594 0.00001
NM_001099274.3(TINF2):c.679C>T (p.Leu227Phe) rs754706260 0.00001
NM_001099274.3(TINF2):c.716A>C (p.His239Pro) rs2040558735 0.00001
NM_001099274.3(TINF2):c.731C>T (p.Pro244Leu) rs775202856 0.00001
NM_001099274.3(TINF2):c.73G>C (p.Gly25Arg) rs766671951 0.00001
NM_001099274.3(TINF2):c.793C>T (p.Arg265Ter) rs200320654 0.00001
NM_001099274.3(TINF2):c.797G>A (p.Arg266Gln) rs200025766 0.00001
NM_001099274.3(TINF2):c.802G>C (p.Val268Leu) rs369926102 0.00001
NM_001099274.3(TINF2):c.922G>T (p.Glu308Ter) rs1232383398 0.00001
NM_001099274.3(TINF2):c.932T>C (p.Ile311Thr) rs757221051 0.00001
NM_001099274.3(TINF2):c.967G>C (p.Ala323Pro) rs755072937 0.00001
NM_001099274.3(TINF2):c.984dup (p.Lys329Ter) rs903141690 0.00001
NM_001099274.3(TINF2):c.995G>A (p.Cys332Tyr) rs750745512 0.00001
NM_001363.5(DKC1):c.1006A>G (p.Ile336Val) rs781943265 0.00001
NM_001363.5(DKC1):c.1210C>G (p.Pro404Ala) rs1347625639 0.00001
NM_001363.5(DKC1):c.1318G>A (p.Glu440Lys) rs782193188 0.00001
NM_001363.5(DKC1):c.1334C>T (p.Ala445Val) rs782117503 0.00001
NM_001363.5(DKC1):c.1353T>A (p.Ser451Arg) rs370788135 0.00001
NM_001363.5(DKC1):c.1457G>A (p.Gly486Glu) rs1557265697 0.00001
NM_001363.5(DKC1):c.1481G>A (p.Ser494Asn) rs1557265768 0.00001
NM_001363.5(DKC1):c.1515A>C (p.Lys505Asn) rs1370393255 0.00001
NM_001363.5(DKC1):c.537C>G (p.Ala179=) rs782697778 0.00001
NM_001363.5(DKC1):c.640+3G>A rs1557264306 0.00001
NM_001363.5(DKC1):c.976G>A (p.Gly326Ser) rs140273992 0.00001
NM_017838.4(NHP2):c.161-2A>T rs766032992 0.00001
NM_017838.4(NHP2):c.182G>A (p.Arg61Gln) rs769920343 0.00001
NM_017838.4(NHP2):c.215A>G (p.Asn72Ser) rs1756325870 0.00001
NM_017838.4(NHP2):c.236T>C (p.Met79Thr) rs1426285845 0.00001
NM_017838.4(NHP2):c.25G>A (p.Asp9Asn) rs769331750 0.00001
NM_017838.4(NHP2):c.292T>G (p.Cys98Gly) rs201129701 0.00001
NM_017838.4(NHP2):c.336G>A (p.Thr112=) rs746472214 0.00001
NM_017838.4(NHP2):c.434A>T (p.Glu145Val) rs143501297 0.00001
NM_017838.4(NHP2):c.439C>A (p.Gln147Lys) rs779452625 0.00001
NM_017838.4(NHP2):c.449C>A (p.Pro150His) rs1401974529 0.00001
NM_017838.4(NHP2):c.67A>G (p.Thr23Ala) rs1196159721 0.00001
NM_025099.6(CTC1):c.100C>T (p.Pro34Ser) rs374857685 0.00001
NM_025099.6(CTC1):c.1077+6C>T rs199696637 0.00001
NM_025099.6(CTC1):c.1094T>C (p.Val365Ala) rs763967881 0.00001
NM_025099.6(CTC1):c.1165C>T (p.Arg389Cys) rs780333162 0.00001
NM_025099.6(CTC1):c.1184T>C (p.Met395Thr) rs1417486388 0.00001
NM_025099.6(CTC1):c.1187G>A (p.Arg396Gln) rs1478316787 0.00001
NM_025099.6(CTC1):c.1199G>A (p.Cys400Tyr) rs1483913680 0.00001
NM_025099.6(CTC1):c.1219C>A (p.His407Asn) rs1286168861 0.00001
NM_025099.6(CTC1):c.1277G>A (p.Arg426His) rs1215600600 0.00001
NM_025099.6(CTC1):c.1279G>A (p.Gly427Ser) rs749511585 0.00001
NM_025099.6(CTC1):c.1282G>A (p.Ala428Thr) rs1382263305 0.00001
NM_025099.6(CTC1):c.1285G>A (p.Val429Ile) rs191350236 0.00001
NM_025099.6(CTC1):c.1297A>G (p.Ser433Gly) rs1391872586 0.00001
NM_025099.6(CTC1):c.1306C>T (p.Arg436Cys) rs764414504 0.00001
NM_025099.6(CTC1):c.1360G>A (p.Glu454Lys) rs774972007 0.00001
NM_025099.6(CTC1):c.1459A>G (p.Arg487Gly) rs747887601 0.00001
NM_025099.6(CTC1):c.1528A>G (p.Thr510Ala) rs578120516 0.00001
NM_025099.6(CTC1):c.1547C>T (p.Pro516Leu) rs747574053 0.00001
NM_025099.6(CTC1):c.1613A>G (p.Gln538Arg) rs1371252082 0.00001
NM_025099.6(CTC1):c.1646T>C (p.Phe549Ser) rs1019443155 0.00001
NM_025099.6(CTC1):c.1673A>G (p.Glu558Gly) rs371121503 0.00001
NM_025099.6(CTC1):c.1697C>G (p.Ser566Cys) rs1351692819 0.00001
NM_025099.6(CTC1):c.1756C>G (p.Leu586Val) rs760274760 0.00001
NM_025099.6(CTC1):c.1759A>C (p.Asn587His) rs774920348 0.00001
NM_025099.6(CTC1):c.1801G>A (p.Ala601Thr) rs963962577 0.00001
NM_025099.6(CTC1):c.1870C>T (p.Arg624Trp) rs759039504 0.00001
NM_025099.6(CTC1):c.1871G>A (p.Arg624Gln) rs377423237 0.00001
NM_025099.6(CTC1):c.1909A>G (p.Lys637Glu) rs773628396 0.00001
NM_025099.6(CTC1):c.1937G>A (p.Arg646Gln) rs1243670945 0.00001
NM_025099.6(CTC1):c.1974G>T (p.Gln658His) rs779228652 0.00001
NM_025099.6(CTC1):c.1993G>A (p.Val665Met) rs751450242 0.00001
NM_025099.6(CTC1):c.2008C>T (p.Pro670Ser) rs750104621 0.00001
NM_025099.6(CTC1):c.2089G>A (p.Ala697Thr) rs778524852 0.00001
NM_025099.6(CTC1):c.2128G>A (p.Ala710Thr) rs1567604032 0.00001
NM_025099.6(CTC1):c.2141C>T (p.Thr714Ile) rs547897675 0.00001
NM_025099.6(CTC1):c.21G>C (p.Gln7His) rs370153216 0.00001
NM_025099.6(CTC1):c.221A>G (p.Lys74Arg) rs774606496 0.00001
NM_025099.6(CTC1):c.2230C>T (p.Arg744Cys) rs752134243 0.00001
NM_025099.6(CTC1):c.2249C>A (p.Pro750Gln) rs1417430299 0.00001
NM_025099.6(CTC1):c.2291A>G (p.Tyr764Cys) rs376729433 0.00001
NM_025099.6(CTC1):c.2312G>A (p.Gly771Glu) rs1287605629 0.00001
NM_025099.6(CTC1):c.2329G>C (p.Glu777Gln) rs753665719 0.00001
NM_025099.6(CTC1):c.2333G>A (p.Gly778Asp) rs1427706121 0.00001
NM_025099.6(CTC1):c.2356C>A (p.Pro786Thr) rs1026203083 0.00001
NM_025099.6(CTC1):c.2416C>T (p.Arg806Cys) rs758151645 0.00001
NM_025099.6(CTC1):c.2417G>A (p.Arg806His) rs750387015 0.00001
NM_025099.6(CTC1):c.2421G>T (p.Trp807Cys) rs765221206 0.00001
NM_025099.6(CTC1):c.2437C>T (p.Pro813Ser) rs776324067 0.00001
NM_025099.6(CTC1):c.2438C>T (p.Pro813Leu) rs764138772 0.00001
NM_025099.6(CTC1):c.2477C>A (p.Thr826Lys) rs757061571 0.00001
NM_025099.6(CTC1):c.2564A>G (p.Gln855Arg) rs1226186528 0.00001
NM_025099.6(CTC1):c.2576C>T (p.Thr859Ile) rs754425018 0.00001
NM_025099.6(CTC1):c.25C>T (p.Pro9Ser) rs1034774367 0.00001
NM_025099.6(CTC1):c.2686G>T (p.Val896Leu) rs761241839 0.00001
NM_025099.6(CTC1):c.2698G>A (p.Ala900Thr) rs371670247 0.00001
NM_025099.6(CTC1):c.26C>G (p.Pro9Arg) rs377386669 0.00001
NM_025099.6(CTC1):c.2729C>A (p.Pro910His) rs532454635 0.00001
NM_025099.6(CTC1):c.2759-10C>A rs766460177 0.00001
NM_025099.6(CTC1):c.275A>G (p.Tyr92Cys) rs753289258 0.00001
NM_025099.6(CTC1):c.2765C>T (p.Thr922Met) rs760623153 0.00001
NM_025099.6(CTC1):c.286G>T (p.Ala96Ser) rs751570124 0.00001
NM_025099.6(CTC1):c.2897G>A (p.Arg966Gln) rs759485791 0.00001
NM_025099.6(CTC1):c.28T>A (p.Ser10Thr) rs781595383 0.00001
NM_025099.6(CTC1):c.2972A>G (p.Tyr991Cys) rs1471047572 0.00001
NM_025099.6(CTC1):c.2993C>T (p.Pro998Leu) rs368344044 0.00001
NM_025099.6(CTC1):c.2996C>A (p.Pro999His) rs780572571 0.00001
NM_025099.6(CTC1):c.2996C>T (p.Pro999Leu) rs780572571 0.00001
NM_025099.6(CTC1):c.3113A>G (p.Gln1038Arg) rs1486092046 0.00001
NM_025099.6(CTC1):c.3157-3C>T rs1010558106 0.00001
NM_025099.6(CTC1):c.3221G>A (p.Arg1074Lys) rs751960515 0.00001
NM_025099.6(CTC1):c.3269A>G (p.Asn1090Ser) rs368562418 0.00001
NM_025099.6(CTC1):c.3273C>A (p.His1091Gln) rs564631876 0.00001
NM_025099.6(CTC1):c.3293G>A (p.Gly1098Glu) rs1986954991 0.00001
NM_025099.6(CTC1):c.3305G>A (p.Arg1102Lys) rs372789589 0.00001
NM_025099.6(CTC1):c.3323T>C (p.Leu1108Pro) rs1445322884 0.00001
NM_025099.6(CTC1):c.3369G>T (p.Gly1123=) rs759771248 0.00001
NM_025099.6(CTC1):c.3400G>T (p.Val1134Phe) rs1446511863 0.00001
NM_025099.6(CTC1):c.3403G>A (p.Asp1135Asn) rs755212243 0.00001
NM_025099.6(CTC1):c.3406G>A (p.Glu1136Lys) rs761553012 0.00001
NM_025099.6(CTC1):c.3420G>A (p.Met1140Ile) rs554183453 0.00001
NM_025099.6(CTC1):c.3458G>A (p.Arg1153His) rs748674791 0.00001
NM_025099.6(CTC1):c.3514+3A>G rs759039342 0.00001
NM_025099.6(CTC1):c.3523C>T (p.Arg1175Trp) rs747504166 0.00001
NM_025099.6(CTC1):c.3538C>T (p.Gln1180Ter) rs562356966 0.00001
NM_025099.6(CTC1):c.3620C>T (p.Ser1207Phe) rs892408695 0.00001
NM_025099.6(CTC1):c.367G>T (p.Asp123Tyr) rs777260624 0.00001
NM_025099.6(CTC1):c.37C>G (p.Gln13Glu) rs767073205 0.00001
NM_025099.6(CTC1):c.421G>A (p.Val141Ile) rs532695142 0.00001
NM_025099.6(CTC1):c.444C>A (p.Asp148Glu) rs542910040 0.00001
NM_025099.6(CTC1):c.485G>A (p.Arg162His) rs199966003 0.00001
NM_025099.6(CTC1):c.505G>A (p.Ala169Thr) rs757366100 0.00001
NM_025099.6(CTC1):c.553C>G (p.Pro185Ala) rs766180217 0.00001
NM_025099.6(CTC1):c.592G>A (p.Val198Ile) rs989763856 0.00001
NM_025099.6(CTC1):c.595A>C (p.Thr199Pro) rs1221916551 0.00001
NM_025099.6(CTC1):c.598C>T (p.Pro200Ser) rs772395506 0.00001
NM_025099.6(CTC1):c.599C>T (p.Pro200Leu) rs1456198284 0.00001
NM_025099.6(CTC1):c.5C>A (p.Ala2Glu) rs749391693 0.00001
NM_025099.6(CTC1):c.740T>C (p.Leu247Pro) rs774742711 0.00001
NM_025099.6(CTC1):c.770C>T (p.Thr257Ile) rs1007776903 0.00001
NM_025099.6(CTC1):c.79C>G (p.Leu27Val) rs369069450 0.00001
NM_025099.6(CTC1):c.817A>G (p.Arg273Gly) rs370483878 0.00001
NM_025099.6(CTC1):c.855A>C (p.Glu285Asp) rs1987719230 0.00001
NM_025099.6(CTC1):c.883C>T (p.Arg295Cys) rs373549661 0.00001
NM_025099.6(CTC1):c.888G>T (p.Gln296His) rs199553763 0.00001
NM_025099.6(CTC1):c.917G>A (p.Arg306His) rs567779457 0.00001
NM_025099.6(CTC1):c.949G>C (p.Glu317Gln) rs1480736168 0.00001
NM_025099.6(CTC1):c.992C>G (p.Pro331Arg) rs765673141 0.00001
NM_025099.6(CTC1):c.995A>G (p.Lys332Arg) rs937598790 0.00001
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_000005.9:g.(?_177419710)_(177578014_?)dup
NC_000014.8:g.(?_24707479)_(24711538_?)dup
NC_000014.8:g.(?_24711327)_(24731558_?)dup
NC_000017.10:g.(?_6589506)_(8151374_?)dup
NC_000017.10:g.(?_8131498)_(8285628_?)dup
NC_000017.11:g.(?_8228170)_(8382320_?)dup
NC_000023.10:g.(?_152014869)_(154563736_?)del
NC_000023.10:g.(?_153991099)_(154005162_?)dup
NC_000023.10:g.(?_153991100)_(153993815_?)dup
NC_000023.10:g.(?_153991100)_(154005142_?)dup
NM_001099274.3(TINF2):c.1010G>A (p.Gly337Glu)
NM_001099274.3(TINF2):c.1010del (p.Gly337fs) rs756029660
NM_001099274.3(TINF2):c.1010dup (p.Arg338fs)
NM_001099274.3(TINF2):c.1012A>G (p.Arg338Gly)
NM_001099274.3(TINF2):c.1016C>T (p.Ala339Val) rs1566366492
NM_001099274.3(TINF2):c.1019T>C (p.Leu340Pro)
NM_001099274.3(TINF2):c.1025A>C (p.Glu342Ala) rs1555303978
NM_001099274.3(TINF2):c.1027_1028del (p.Asn343fs)
NM_001099274.3(TINF2):c.1033G>C (p.Val345Leu)
NM_001099274.3(TINF2):c.1048A>G (p.Thr350Ala)
NM_001099274.3(TINF2):c.104T>C (p.Leu35Pro) rs1440307893
NM_001099274.3(TINF2):c.1058dup (p.Glu354fs) rs2040546606
NM_001099274.3(TINF2):c.1061+1G>T rs1594550523
NM_001099274.3(TINF2):c.1061+4_1061+7del
NM_001099274.3(TINF2):c.1062-15T>C
NM_001099274.3(TINF2):c.1062-18T>C
NM_001099274.3(TINF2):c.1062-2A>G
NM_001099274.3(TINF2):c.1067G>A (p.Cys356Tyr) rs1459244615
NM_001099274.3(TINF2):c.1070_1078dup (p.Cys359_Tyr360insLeuAspCys)
NM_001099274.3(TINF2):c.1075del (p.Cys359fs)
NM_001099274.3(TINF2):c.1076G>C (p.Cys359Ser) rs368350757
NM_001099274.3(TINF2):c.1079A>G (p.Tyr360Cys)
NM_001099274.3(TINF2):c.1083G>A (p.Met361Ile) rs2040542787
NM_001099274.3(TINF2):c.1087C>T (p.Pro363Ser)
NM_001099274.3(TINF2):c.1093A>G (p.Arg365Gly) rs374740382
NM_001099274.3(TINF2):c.1096C>A (p.Leu366Ile) rs2138996481
NM_001099274.3(TINF2):c.1108C>T (p.Pro370Ser) rs2040541718
NM_001099274.3(TINF2):c.1123_1129+1del rs1335513287
NM_001099274.3(TINF2):c.1128A>T (p.Pro376=) rs2138996390
NM_001099274.3(TINF2):c.1130-1G>T rs769640244
NM_001099274.3(TINF2):c.1130-3_1130-2del rs761173366
NM_001099274.3(TINF2):c.1130-4A>T
NM_001099274.3(TINF2):c.1136C>G (p.Pro379Arg)
NM_001099274.3(TINF2):c.1151G>A (p.Ser384Asn)
NM_001099274.3(TINF2):c.1157T>A (p.Val386Asp)
NM_001099274.3(TINF2):c.115C>G (p.Arg39Gly) rs1367518236
NM_001099274.3(TINF2):c.1166T>A (p.Ile389Lys) rs192423622
NM_001099274.3(TINF2):c.1166T>G (p.Ile389Arg)
NM_001099274.3(TINF2):c.1188TGA[1] (p.Asp397del)
NM_001099274.3(TINF2):c.1209G>C (p.Gln403His)
NM_001099274.3(TINF2):c.1209G>T (p.Gln403His)
NM_001099274.3(TINF2):c.1211G>A (p.Gly404Glu) rs765918306
NM_001099274.3(TINF2):c.1211G>T (p.Gly404Val) rs765918306
NM_001099274.3(TINF2):c.1222-2A>G rs1205167406
NM_001099274.3(TINF2):c.1222-3C>T rs760553298
NM_001099274.3(TINF2):c.1224A>C (p.Glu408Asp) rs2040530178
NM_001099274.3(TINF2):c.1231G>C (p.Glu411Gln)
NM_001099274.3(TINF2):c.1249A>G (p.Lys417Glu)
NM_001099274.3(TINF2):c.1250A>C (p.Lys417Thr)
NM_001099274.3(TINF2):c.1267C>T (p.Pro423Ser)
NM_001099274.3(TINF2):c.1271C>T (p.Thr424Ile) rs1346082542
NM_001099274.3(TINF2):c.1280A>G (p.Glu427Gly)
NM_001099274.3(TINF2):c.1285C>A (p.Leu429Ile) rs780647966
NM_001099274.3(TINF2):c.1285C>G (p.Leu429Val) rs780647966
NM_001099274.3(TINF2):c.1288C>A (p.Pro430Thr) rs374776408
NM_001099274.3(TINF2):c.1288C>G (p.Pro430Ala)
NM_001099274.3(TINF2):c.1288C>T (p.Pro430Ser) rs374776408
NM_001099274.3(TINF2):c.1289C>T (p.Pro430Leu)
NM_001099274.3(TINF2):c.1291C>G (p.Pro431Ala) rs756840009
NM_001099274.3(TINF2):c.1292C>A (p.Pro431His)
NM_001099274.3(TINF2):c.1292del (p.Pro431fs) rs770529422
NM_001099274.3(TINF2):c.1300C>G (p.His434Asp)
NM_001099274.3(TINF2):c.1302C>A (p.His434Gln)
NM_001099274.3(TINF2):c.1304G>A (p.Gly435Asp)
NM_001099274.3(TINF2):c.1307C>G (p.Ala436Gly)
NM_001099274.3(TINF2):c.131T>A (p.Val44Asp) rs1282299077
NM_001099274.3(TINF2):c.131T>C (p.Val44Ala)
NM_001099274.3(TINF2):c.1331G>A (p.Cys444Tyr) rs1455962316
NM_001099274.3(TINF2):c.1333A>G (p.Arg445Gly) rs2138994183
NM_001099274.3(TINF2):c.1343C>T (p.Ser448Phe)
NM_001099274.3(TINF2):c.1349C>T (p.Pro450Leu)
NM_001099274.3(TINF2):c.138del (p.Gly47fs)
NM_001099274.3(TINF2):c.144G>C (p.Leu48Phe) rs2139003740
NM_001099274.3(TINF2):c.163G>A (p.Glu55Lys) rs757133062
NM_001099274.3(TINF2):c.169del (p.Leu57fs)
NM_001099274.3(TINF2):c.16G>C (p.Val6Leu)
NM_001099274.3(TINF2):c.176T>C (p.Met59Thr) rs376204748
NM_001099274.3(TINF2):c.17dup (p.Ala7fs)
NM_001099274.3(TINF2):c.199G>A (p.Val67Met) rs2040591219
NM_001099274.3(TINF2):c.19G>C (p.Ala7Pro) rs1329482510
NM_001099274.3(TINF2):c.209T>C (p.Ile70Thr)
NM_001099274.3(TINF2):c.20C>T (p.Ala7Val) rs2040599044
NM_001099274.3(TINF2):c.215A>T (p.Gln72Leu) rs2139003147
NM_001099274.3(TINF2):c.217G>C (p.Gly73Arg) rs2040590786
NM_001099274.3(TINF2):c.218G>A (p.Gly73Asp) rs1566369238
NM_001099274.3(TINF2):c.230C>T (p.Ala77Val) rs1324581269
NM_001099274.3(TINF2):c.233A>G (p.Gln78Arg) rs2139003067
NM_001099274.3(TINF2):c.239T>C (p.Leu80Pro)
NM_001099274.3(TINF2):c.250A>C (p.Asn84His)
NM_001099274.3(TINF2):c.257_258del (p.His86fs) rs2040589135
NM_001099274.3(TINF2):c.262C>A (p.Pro88Thr) rs2139002944
NM_001099274.3(TINF2):c.274C>T (p.Pro92Ser) rs2040588888
NM_001099274.3(TINF2):c.293A>C (p.Lys98Thr)
NM_001099274.3(TINF2):c.295G>C (p.Ala99Pro)
NM_001099274.3(TINF2):c.297+1G>A
NM_001099274.3(TINF2):c.297+4A>G
NM_001099274.3(TINF2):c.297+5G>A rs2139002864
NM_001099274.3(TINF2):c.307G>C (p.Asp103His)
NM_001099274.3(TINF2):c.316A>G (p.Lys106Glu) rs2040584780
NM_001099274.3(TINF2):c.31G>C (p.Ala11Pro)
NM_001099274.3(TINF2):c.324G>C (p.Leu108Phe) rs2139002450
NM_001099274.3(TINF2):c.333G>T (p.Gln111His)
NM_001099274.3(TINF2):c.334G>C (p.Glu112Gln)
NM_001099274.3(TINF2):c.342_343del (p.Phe114fs) rs2139002396
NM_001099274.3(TINF2):c.344A>G (p.Tyr115Cys) rs1594554700
NM_001099274.3(TINF2):c.370G>C (p.Ala124Pro) rs2040583306
NM_001099274.3(TINF2):c.37C>T (p.Arg13Cys) rs2040598351
NM_001099274.3(TINF2):c.386C>T (p.Ala129Val)
NM_001099274.3(TINF2):c.389C>G (p.Ser130Trp)
NM_001099274.3(TINF2):c.400-3T>C rs2040574912
NM_001099274.3(TINF2):c.415T>G (p.Tyr139Asp)
NM_001099274.3(TINF2):c.425C>G (p.Pro142Arg) rs770995315
NM_001099274.3(TINF2):c.43G>C (p.Ala15Pro)
NM_001099274.3(TINF2):c.455T>C (p.Phe152Ser)
NM_001099274.3(TINF2):c.487C>T (p.Pro163Ser)
NM_001099274.3(TINF2):c.493C>T (p.Pro165Ser) rs2139000919
NM_001099274.3(TINF2):c.507+12G>A
NM_001099274.3(TINF2):c.507+6G>T rs142144996
NM_001099274.3(TINF2):c.517G>A (p.Val173Met) rs2040569011
NM_001099274.3(TINF2):c.526T>C (p.Trp176Arg)
NM_001099274.3(TINF2):c.529A>T (p.Met177Leu)
NM_001099274.3(TINF2):c.530T>G (p.Met177Arg)
NM_001099274.3(TINF2):c.553T>A (p.Ser185Thr) rs2139000156
NM_001099274.3(TINF2):c.557C>T (p.Ser186Phe)
NM_001099274.3(TINF2):c.567G>T (p.Trp189Cys)
NM_001099274.3(TINF2):c.569G>A (p.Arg190Lys) rs1382407347
NM_001099274.3(TINF2):c.586A>G (p.Met196Val) rs2040566613
NM_001099274.3(TINF2):c.588G>C (p.Met196Ile) rs1416935989
NM_001099274.3(TINF2):c.604G>C (p.Glu202Gln)
NM_001099274.3(TINF2):c.606del (p.Glu202fs) rs2138999397
NM_001099274.3(TINF2):c.630C>G (p.Asn210Lys)
NM_001099274.3(TINF2):c.640C>A (p.Pro214Thr) rs372610524
NM_001099274.3(TINF2):c.648A>C (p.Glu216Asp)
NM_001099274.3(TINF2):c.64G>A (p.Val22Ile)
NM_001099274.3(TINF2):c.659C>T (p.Pro220Leu) rs2040560743
NM_001099274.3(TINF2):c.667C>G (p.Gln223Glu)
NM_001099274.3(TINF2):c.670A>G (p.Arg224Gly) rs747792016
NM_001099274.3(TINF2):c.684C>A (p.His228Gln) rs370555134
NM_001099274.3(TINF2):c.686A>G (p.Asn229Ser)
NM_001099274.3(TINF2):c.695C>T (p.Pro232Leu)
NM_001099274.3(TINF2):c.707C>T (p.Pro236Leu) rs2040559007
NM_001099274.3(TINF2):c.70C>T (p.Arg24Cys) rs2139004072
NM_001099274.3(TINF2):c.718C>T (p.Leu240Phe) rs1594551965
NM_001099274.3(TINF2):c.73G>A (p.Gly25Arg)
NM_001099274.3(TINF2):c.751G>C (p.Glu251Gln)
NM_001099274.3(TINF2):c.757C>G (p.Leu253Val)
NM_001099274.3(TINF2):c.766C>T (p.Arg256Ter)
NM_001099274.3(TINF2):c.769C>T (p.His257Tyr)
NM_001099274.3(TINF2):c.778C>G (p.Leu260Val) rs1594551733
NM_001099274.3(TINF2):c.790G>A (p.Gly264Ser)
NM_001099274.3(TINF2):c.794G>A (p.Arg265Gln)
NM_001099274.3(TINF2):c.79T>C (p.Cys27Arg) rs2040597244
NM_001099274.3(TINF2):c.801A>C (p.Arg267Ser)
NM_001099274.3(TINF2):c.81C>A (p.Cys27Ter) rs1060499576
NM_001099274.3(TINF2):c.82G>C (p.Val28Leu)
NM_001099274.3(TINF2):c.838A>C (p.Lys280Gln)
NM_001099274.3(TINF2):c.880G>A (p.Gly294Ser)
NM_001099274.3(TINF2):c.896T>C (p.Val299Ala) rs1050040349
NM_001099274.3(TINF2):c.900A>G (p.Ile300Met)
NM_001099274.3(TINF2):c.906G>C (p.Lys302Asn)
NM_001099274.3(TINF2):c.910G>A (p.Glu304Lys) rs1566366788
NM_001099274.3(TINF2):c.914G>A (p.Ser305Asn)
NM_001099274.3(TINF2):c.914G>C (p.Ser305Thr) rs746657282
NM_001099274.3(TINF2):c.917A>G (p.Lys306Arg) rs1555304016
NM_001099274.3(TINF2):c.919del (p.Glu307fs)
NM_001099274.3(TINF2):c.922G>C (p.Glu308Gln) rs1232383398
NM_001099274.3(TINF2):c.926A>T (p.His309Leu)
NM_001099274.3(TINF2):c.927T>G (p.His309Gln)
NM_001099274.3(TINF2):c.928G>A (p.Ala310Thr) rs745711329
NM_001099274.3(TINF2):c.929C>T (p.Ala310Val) rs2040550859
NM_001099274.3(TINF2):c.937A>T (p.Thr313Ser) rs1391029850
NM_001099274.3(TINF2):c.93T>G (p.Phe31Leu)
NM_001099274.3(TINF2):c.954G>C (p.Met318Ile)
NM_001099274.3(TINF2):c.95C>T (p.Pro32Leu)
NM_001099274.3(TINF2):c.968C>T (p.Ala323Val)
NM_001099274.3(TINF2):c.985A>G (p.Lys329Glu) rs1238940302
NM_001099274.3(TINF2):c.986A>G (p.Lys329Arg)
NM_001363.5(DKC1):c.1027A>G (p.Ile343Val) rs958540765
NM_001363.5(DKC1):c.1036+6_1036+7del rs1557264868
NM_001363.5(DKC1):c.1039A>G (p.Ile347Val) rs1248744087
NM_001363.5(DKC1):c.1066T>C (p.Ser356Pro)
NM_001363.5(DKC1):c.1091C>G (p.Ala364Gly) rs2148515101
NM_001363.5(DKC1):c.1114G>C (p.Glu372Gln) rs2148515114
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln) rs1057520719
NM_001363.5(DKC1):c.1171C>A (p.Leu391Met) rs2148516382
NM_001363.5(DKC1):c.121G>A (p.Glu41Lys) rs121912302
NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile) rs199422254
NM_001363.5(DKC1):c.1275_1277del (p.Glu426del)
NM_001363.5(DKC1):c.1276G>C (p.Glu426Gln) rs2071881185
NM_001363.5(DKC1):c.1281_1310del (p.Val431_Glu440del)
NM_001363.5(DKC1):c.1293_1295del (p.Val432del)
NM_001363.5(DKC1):c.1304C>T (p.Pro435Leu)
NM_001363.5(DKC1):c.1328A>C (p.Lys443Thr)
NM_001363.5(DKC1):c.1338+3G>C
NM_001363.5(DKC1):c.1343A>G (p.Lys448Arg) rs2148517505
NM_001363.5(DKC1):c.1346G>C (p.Arg449Pro) rs1289430524
NM_001363.5(DKC1):c.1352G>A (p.Ser451Asn) rs2071893244
NM_001363.5(DKC1):c.1352G>C (p.Ser451Thr) rs2071893244
NM_001363.5(DKC1):c.1373C>G (p.Thr458Ser) rs2071893601
NM_001363.5(DKC1):c.1373C>T (p.Thr458Ile)
NM_001363.5(DKC1):c.1387C>A (p.Pro463Thr) rs782434084
NM_001363.5(DKC1):c.1398C>G (p.Ile466Met)
NM_001363.5(DKC1):c.142G>A (p.Asp48Asn)
NM_001363.5(DKC1):c.1462G>A (p.Glu488Lys)
NM_001363.5(DKC1):c.1477-14_1477-11del
NM_001363.5(DKC1):c.1477-1G>C rs2148517984
NM_001363.5(DKC1):c.1494GAA[4] (p.Lys503_Lys505del) rs782576893
NM_001363.5(DKC1):c.1512G>T (p.Lys504Asn) rs1557265783
NM_001363.5(DKC1):c.1524G>T (p.Glu508Asp) rs186518477
NM_001363.5(DKC1):c.191T>G (p.Val64Gly) rs2071739379
NM_001363.5(DKC1):c.211C>T (p.Pro71Ser)
NM_001363.5(DKC1):c.220T>C (p.Cys74Arg) rs2148509751
NM_001363.5(DKC1):c.244G>C (p.Glu82Gln)
NM_001363.5(DKC1):c.253G>A (p.Asp85Asn) rs2148509772
NM_001363.5(DKC1):c.263+6T>C rs2071741038
NM_001363.5(DKC1):c.277A>T (p.Asn93Tyr) rs2148509897
NM_001363.5(DKC1):c.332G>A (p.Arg111Gln) rs1036880108
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly) rs121912305
NM_001363.5(DKC1):c.421C>A (p.Arg141Ser)
NM_001363.5(DKC1):c.421C>T (p.Arg141Cys)
NM_001363.5(DKC1):c.42GAA[1] (p.Lys17del) rs782201995
NM_001363.5(DKC1):c.484G>A (p.Ala162Thr) rs2071754474
NM_001363.5(DKC1):c.487A>C (p.Ile163Leu) rs782159247
NM_001363.5(DKC1):c.494G>T (p.Gly165Val) rs782622660
NM_001363.5(DKC1):c.52_54del (p.Glu18del) rs2071726998
NM_001363.5(DKC1):c.548G>A (p.Arg183Gln)
NM_001363.5(DKC1):c.559A>C (p.Ile187Leu)
NM_001363.5(DKC1):c.568G>A (p.Val190Ile) rs2071758363
NM_001363.5(DKC1):c.629A>G (p.Glu210Gly) rs2071759206
NM_001363.5(DKC1):c.62C>T (p.Ser21Leu)
NM_001363.5(DKC1):c.67C>A (p.Pro23Thr)
NM_001363.5(DKC1):c.70G>A (p.Glu24Lys) rs2148509194
NM_001363.5(DKC1):c.739C>A (p.Arg247=)
NM_001363.5(DKC1):c.75A>T (p.Glu25Asp)
NM_001363.5(DKC1):c.763A>G (p.Ser255Gly)
NM_001363.5(DKC1):c.778A>G (p.Met260Val)
NM_001363.5(DKC1):c.884C>T (p.Ser295Phe) rs2071791712
NM_001363.5(DKC1):c.88A>G (p.Ile30Val)
NM_001363.5(DKC1):c.948G>T (p.Met316Ile) rs2148513624
NM_001363.5(DKC1):c.965G>A (p.Arg322Gln) rs121912291
NM_001363.5(DKC1):c.979A>G (p.Ile327Val) rs2071814299
NM_001363.5(DKC1):c.985G>A (p.Val329Ile) rs2071814456
NM_001363.5(DKC1):c.993G>T (p.Gln331His)
NM_017838.4(NHP2):c.104C>T (p.Ala35Val)
NM_017838.4(NHP2):c.106dup (p.Gln36fs) rs1756333644
NM_017838.4(NHP2):c.115G>A (p.Ala39Thr)
NM_017838.4(NHP2):c.116C>A (p.Ala39Asp) rs1439650238
NM_017838.4(NHP2):c.120_122del (p.Arg42del)
NM_017838.4(NHP2):c.122_129del (p.Arg41fs) rs1756332858
NM_017838.4(NHP2):c.130A>T (p.Thr44Ser)
NM_017838.4(NHP2):c.155A>G (p.Lys52Arg) rs2113476542
NM_017838.4(NHP2):c.156G>C (p.Lys52Asn)
NM_017838.4(NHP2):c.157A>G (p.Lys53Glu)
NM_017838.4(NHP2):c.160+4A>C rs1419452406
NM_017838.4(NHP2):c.160+4A>G
NM_017838.4(NHP2):c.160+5G>C
NM_017838.4(NHP2):c.160G>A (p.Ala54Thr)
NM_017838.4(NHP2):c.163G>A (p.Val55Met) rs1756327381
NM_017838.4(NHP2):c.167A>G (p.Lys56Arg) rs2113476084
NM_017838.4(NHP2):c.172A>C (p.Lys58Gln)
NM_017838.4(NHP2):c.177G>C (p.Gln59His) rs2113476075
NM_017838.4(NHP2):c.17C>T (p.Ala6Val)
NM_017838.4(NHP2):c.181C>T (p.Arg61Trp) rs773420072
NM_017838.4(NHP2):c.187G>C (p.Gly63Arg) rs1756326801
NM_017838.4(NHP2):c.196G>A (p.Glu66Lys)
NM_017838.4(NHP2):c.197_198del (p.Glu66fs) rs1333837047
NM_017838.4(NHP2):c.19G>C (p.Asp7His) rs1581138326
NM_017838.4(NHP2):c.204G>T (p.Gln68His)
NM_017838.4(NHP2):c.216C>G (p.Asn72Lys)
NM_017838.4(NHP2):c.220G>A (p.Gly74Arg)
NM_017838.4(NHP2):c.228A>C (p.Lys76Asn) rs2113475874
NM_017838.4(NHP2):c.230+4dup rs1581137979
NM_017838.4(NHP2):c.231-9T>C
NM_017838.4(NHP2):c.231G>C (p.Gly77=)
NM_017838.4(NHP2):c.233T>A (p.Ile78Asn) rs1348885486
NM_017838.4(NHP2):c.237G>A (p.Met79Ile) rs1561644268
NM_017838.4(NHP2):c.259C>T (p.Pro87Ser)
NM_017838.4(NHP2):c.262A>G (p.Ile88Val)
NM_017838.4(NHP2):c.266A>C (p.Glu89Ala)
NM_017838.4(NHP2):c.267_270del (p.Glu89fs) rs754436041
NM_017838.4(NHP2):c.28G>A (p.Gly10Arg)
NM_017838.4(NHP2):c.2T>G (p.Met1Arg)
NM_017838.4(NHP2):c.314A>G (p.Tyr105Cys) rs772671488
NM_017838.4(NHP2):c.319T>A (p.Tyr107Asn)
NM_017838.4(NHP2):c.319dup (p.Tyr107fs)
NM_017838.4(NHP2):c.320A>G (p.Tyr107Cys) rs760076146
NM_017838.4(NHP2):c.326C>T (p.Pro109Leu)
NM_017838.4(NHP2):c.336+2T>C
NM_017838.4(NHP2):c.34G>C (p.Glu12Gln) rs1296058145
NM_017838.4(NHP2):c.355G>A (p.Gly119Ser)
NM_017838.4(NHP2):c.355G>C (p.Gly119Arg) rs750874926
NM_017838.4(NHP2):c.362A>G (p.Lys121Arg) rs2113463207
NM_017838.4(NHP2):c.364C>A (p.Arg122Ser)
NM_017838.4(NHP2):c.364C>T (p.Arg122Cys) rs752392516
NM_017838.4(NHP2):c.365G>A (p.Arg122His)
NM_017838.4(NHP2):c.369dup (p.Thr124fs)
NM_017838.4(NHP2):c.383T>C (p.Met128Thr) rs759145032
NM_017838.4(NHP2):c.391C>A (p.Pro131Thr)
NM_017838.4(NHP2):c.397G>A (p.Glu133Lys)
NM_017838.4(NHP2):c.397GAG[1] (p.Glu134del) rs1756214889
NM_017838.4(NHP2):c.418G>A (p.Asp140Asn) rs1214412834
NM_017838.4(NHP2):c.422A>G (p.Glu141Gly)
NM_017838.4(NHP2):c.436G>C (p.Val146Leu)
NM_017838.4(NHP2):c.439C>T (p.Gln147Ter)
NM_017838.4(NHP2):c.455C>T (p.Pro152Leu)
NM_017838.4(NHP2):c.460T>G (p.Ter154Gly) rs121908091
NM_017838.4(NHP2):c.53G>A (p.Cys18Tyr) rs1373808491
NM_017838.4(NHP2):c.61dup (p.Glu21fs) rs780613876
NM_017838.4(NHP2):c.68C>T (p.Thr23Ile) rs1341101133
NM_017838.4(NHP2):c.80T>A (p.Leu27Gln)
NM_025099.6(CTC1):c.1003C>T (p.Pro335Ser)
NM_025099.6(CTC1):c.1009C>G (p.Pro337Ala) rs2151523075
NM_025099.6(CTC1):c.1019C>G (p.Ser340Trp) rs771874794
NM_025099.6(CTC1):c.1019C>T (p.Ser340Leu)
NM_025099.6(CTC1):c.1026C>G (p.Asp342Glu) rs776408496
NM_025099.6(CTC1):c.1036C>G (p.Pro346Ala) rs2151522938
NM_025099.6(CTC1):c.1036C>T (p.Pro346Ser) rs2151522938
NM_025099.6(CTC1):c.1046T>G (p.Leu349Arg) rs2151522868
NM_025099.6(CTC1):c.1054T>C (p.Tyr352His)
NM_025099.6(CTC1):c.1059T>C (p.Ser353=)
NM_025099.6(CTC1):c.1064T>C (p.Leu355Pro)
NM_025099.6(CTC1):c.1077G>A (p.Ser359=) rs767741611
NM_025099.6(CTC1):c.1077G>T (p.Ser359=)
NM_025099.6(CTC1):c.1078-4_1078-3delinsTT rs2151522382
NM_025099.6(CTC1):c.1084G>C (p.Val362Leu)
NM_025099.6(CTC1):c.1085T>A (p.Val362Asp)
NM_025099.6(CTC1):c.1093G>A (p.Val365Met) rs753519460
NM_025099.6(CTC1):c.1108G>C (p.Ala370Pro)
NM_025099.6(CTC1):c.1111G>A (p.Gly371Ser)
NM_025099.6(CTC1):c.1115T>C (p.Leu372Pro)
NM_025099.6(CTC1):c.1118A>G (p.Tyr373Cys) rs2151522187
NM_025099.6(CTC1):c.1120G>A (p.Glu374Lys) rs1987674659
NM_025099.6(CTC1):c.1133A>G (p.Gln378Arg) rs1987673814
NM_025099.6(CTC1):c.1151C>G (p.Ala384Gly) rs748695989
NM_025099.6(CTC1):c.1151C>T (p.Ala384Val)
NM_025099.6(CTC1):c.1171C>T (p.Leu391Phe)
NM_025099.6(CTC1):c.1185_1186delinsAG (p.Met395_Arg396delinsIleGly) rs1987666643
NM_025099.6(CTC1):c.1195G>A (p.Val399Met) rs1197080779
NM_025099.6(CTC1):c.1196T>C (p.Val399Ala)
NM_025099.6(CTC1):c.1198T>C (p.Cys400Arg)
NM_025099.6(CTC1):c.119C>T (p.Pro40Leu)
NM_025099.6(CTC1):c.1207C>G (p.Leu403Val)
NM_025099.6(CTC1):c.1211A>G (p.Gln404Arg)
NM_025099.6(CTC1):c.1212G>C (p.Gln404His)
NM_025099.6(CTC1):c.1241G>A (p.Gly414Glu) rs62624978
NM_025099.6(CTC1):c.1270T>G (p.Cys424Gly)
NM_025099.6(CTC1):c.1280G>T (p.Gly427Val) rs781203515
NM_025099.6(CTC1):c.1283C>T (p.Ala428Val) rs2151520028
NM_025099.6(CTC1):c.1284_1285delinsTT (p.Val429Phe) rs2151520002
NM_025099.6(CTC1):c.128T>C (p.Ile43Thr)
NM_025099.6(CTC1):c.1300T>C (p.Phe434Leu) rs761520320
NM_025099.6(CTC1):c.1316C>T (p.Pro439Leu) rs2151519873
NM_025099.6(CTC1):c.1328C>T (p.Ser443Leu)
NM_025099.6(CTC1):c.1331C>T (p.Ser444Phe) rs1987600358
NM_025099.6(CTC1):c.1334G>A (p.Arg445His) rs768361173
NM_025099.6(CTC1):c.1339G>A (p.Ala447Thr) rs1223603855
NM_025099.6(CTC1):c.1348G>A (p.Ala450Thr) rs778433916
NM_025099.6(CTC1):c.1375G>C (p.Glu459Gln)
NM_025099.6(CTC1):c.1383G>T (p.Gln461His) rs145192682
NM_025099.6(CTC1):c.1397T>A (p.Leu466His)
NM_025099.6(CTC1):c.13C>G (p.Arg5Gly) rs201280372
NM_025099.6(CTC1):c.1400A>G (p.Tyr467Cys) rs1987589226
NM_025099.6(CTC1):c.1439A>G (p.Lys480Arg)
NM_025099.6(CTC1):c.1440G>T (p.Lys480Asn) rs770798986
NM_025099.6(CTC1):c.1466A>C (p.His489Pro)
NM_025099.6(CTC1):c.1480C>T (p.His494Tyr)
NM_025099.6(CTC1):c.1496G>A (p.Ser499Asn)
NM_025099.6(CTC1):c.1498C>G (p.Pro500Ala) rs1359625369
NM_025099.6(CTC1):c.149_150delinsTT (p.Trp50Phe)
NM_025099.6(CTC1):c.14G>A (p.Arg5Gln) rs1449419140
NM_025099.6(CTC1):c.1554C>T (p.Gly518=)
NM_025099.6(CTC1):c.1564C>G (p.Arg522Gly) rs199698527
NM_025099.6(CTC1):c.1576A>G (p.Asn526Asp) rs2151518271
NM_025099.6(CTC1):c.1585C>T (p.Leu529Phe) rs201560353
NM_025099.6(CTC1):c.1588G>A (p.Glu530Lys)
NM_025099.6(CTC1):c.1597C>G (p.His533Asp) rs1302748336
NM_025099.6(CTC1):c.1597C>T (p.His533Tyr)
NM_025099.6(CTC1):c.1602C>A (p.His534Gln) rs1421770599
NM_025099.6(CTC1):c.1617+5G>A
NM_025099.6(CTC1):c.1617A>G (p.Lys539=)
NM_025099.6(CTC1):c.1625G>C (p.Arg542Pro)
NM_025099.6(CTC1):c.1632G>T (p.Gln544His)
NM_025099.6(CTC1):c.164G>A (p.Arg55Lys) rs2151545851
NM_025099.6(CTC1):c.1667AAG[2] (p.Glu558del) rs756079894
NM_025099.6(CTC1):c.1669G>A (p.Glu557Lys) rs1987533999
NM_025099.6(CTC1):c.166A>C (p.Asn56His)
NM_025099.6(CTC1):c.1679A>G (p.Gln560Arg)
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.1688C>T (p.Ala563Val)
NM_025099.6(CTC1):c.1693G>A (p.Ala565Thr) rs2151517418
NM_025099.6(CTC1):c.1697C>T (p.Ser566Phe)
NM_025099.6(CTC1):c.16G>A (p.Ala6Thr)
NM_025099.6(CTC1):c.16G>T (p.Ala6Ser)
NM_025099.6(CTC1):c.1700T>C (p.Phe567Ser) rs2151517400
NM_025099.6(CTC1):c.1706C>T (p.Pro569Leu)
NM_025099.6(CTC1):c.170A>G (p.Gln57Arg) rs371868360
NM_025099.6(CTC1):c.1721C>T (p.Pro574Leu) rs926565387
NM_025099.6(CTC1):c.1730A>G (p.Glu577Gly)
NM_025099.6(CTC1):c.1733C>T (p.Ala578Val)
NM_025099.6(CTC1):c.173G>A (p.Gly58Asp) rs1988400898
NM_025099.6(CTC1):c.1766G>A (p.Arg589His) rs771224545
NM_025099.6(CTC1):c.1766G>T (p.Arg589Leu)
NM_025099.6(CTC1):c.1778C>T (p.Ser593Phe) rs767152748
NM_025099.6(CTC1):c.1782G>T (p.Trp594Cys) rs2151517027
NM_025099.6(CTC1):c.1787G>C (p.Cys596Ser)
NM_025099.6(CTC1):c.1818+4A>G
NM_025099.6(CTC1):c.1825C>G (p.Leu609Val)
NM_025099.6(CTC1):c.1838T>C (p.Val613Ala)
NM_025099.6(CTC1):c.1850A>T (p.His617Leu)
NM_025099.6(CTC1):c.1856G>T (p.Gly619Val) rs1987375790
NM_025099.6(CTC1):c.1859G>A (p.Cys620Tyr) rs766985115
NM_025099.6(CTC1):c.1859G>T (p.Cys620Phe)
NM_025099.6(CTC1):c.1874A>G (p.Asp625Gly)
NM_025099.6(CTC1):c.1919A>C (p.Gln640Pro) rs1987370776
NM_025099.6(CTC1):c.191G>A (p.Ser64Asn)
NM_025099.6(CTC1):c.1927A>T (p.Ser643Cys)
NM_025099.6(CTC1):c.1940T>A (p.Leu647Gln) rs1342587450
NM_025099.6(CTC1):c.1942A>C (p.Ile648Leu)
NM_025099.6(CTC1):c.1946-11T>G
NM_025099.6(CTC1):c.1946-13T>C
NM_025099.6(CTC1):c.1954G>A (p.Val652Met)
NM_025099.6(CTC1):c.1954G>C (p.Val652Leu)
NM_025099.6(CTC1):c.1960G>A (p.Ala654Thr)
NM_025099.6(CTC1):c.1984G>C (p.Glu662Gln) rs1341299177
NM_025099.6(CTC1):c.1998A>C (p.Arg666Ser) rs757849997
NM_025099.6(CTC1):c.2019G>A (p.Lys673=) rs2151510979
NM_025099.6(CTC1):c.2027G>A (p.Ser676Asn)
NM_025099.6(CTC1):c.2029A>G (p.Met677Val) rs1987321255
NM_025099.6(CTC1):c.2038T>G (p.Phe680Val) rs2151510882
NM_025099.6(CTC1):c.2044C>G (p.Gln682Glu)
NM_025099.6(CTC1):c.2045A>G (p.Gln682Arg)
NM_025099.6(CTC1):c.2050C>G (p.Gln684Glu)
NM_025099.6(CTC1):c.2055G>C (p.Gln685His)
NM_025099.6(CTC1):c.2056G>A (p.Ala686Thr)
NM_025099.6(CTC1):c.2058C>A (p.Ala686=)
NM_025099.6(CTC1):c.2060+5G>A
NM_025099.6(CTC1):c.2060+6_2060+13del rs2151510765
NM_025099.6(CTC1):c.2066A>G (p.Tyr689Cys)
NM_025099.6(CTC1):c.2076C>G (p.Phe692Leu) rs369717598
NM_025099.6(CTC1):c.2113C>G (p.Pro705Ala)
NM_025099.6(CTC1):c.2124T>G (p.His708Gln)
NM_025099.6(CTC1):c.2140A>C (p.Thr714Pro) rs1987295113
NM_025099.6(CTC1):c.2147A>G (p.Gln716Arg)
NM_025099.6(CTC1):c.2152G>C (p.Asp718His) rs1458344790
NM_025099.6(CTC1):c.2161G>A (p.Gly721Ser) rs771821232
NM_025099.6(CTC1):c.2164C>T (p.Pro722Ser) rs770505786
NM_025099.6(CTC1):c.2202G>C (p.Leu734Phe)
NM_025099.6(CTC1):c.2210A>G (p.His737Arg) rs537646611
NM_025099.6(CTC1):c.222G>C (p.Lys74Asn)
NM_025099.6(CTC1):c.2242G>T (p.Val748Phe)
NM_025099.6(CTC1):c.2258G>A (p.Ser753Asn) rs1987279014
NM_025099.6(CTC1):c.2268G>T (p.Val756=)
NM_025099.6(CTC1):c.226C>A (p.His76Asn)
NM_025099.6(CTC1):c.2276C>T (p.Pro759Leu) rs2151509364
NM_025099.6(CTC1):c.228C>A (p.His76Gln) rs531109382
NM_025099.6(CTC1):c.2294T>C (p.Val765Ala) rs2151509260
NM_025099.6(CTC1):c.22G>C (p.Val8Leu) rs1233799443
NM_025099.6(CTC1):c.2305T>C (p.Trp769Arg)
NM_025099.6(CTC1):c.2327A>G (p.Lys776Arg)
NM_025099.6(CTC1):c.2350C>T (p.Pro784Ser)
NM_025099.6(CTC1):c.2375A>G (p.Asn792Ser) rs1245008176
NM_025099.6(CTC1):c.2379T>A (p.Asp793Glu)
NM_025099.6(CTC1):c.2383A>G (p.Lys795Glu)
NM_025099.6(CTC1):c.2386-18T>G
NM_025099.6(CTC1):c.2395A>G (p.Ile799Val) rs2151508501
NM_025099.6(CTC1):c.2399T>C (p.Phe800Ser) rs752957819
NM_025099.6(CTC1):c.2436C>G (p.His812Gln)
NM_025099.6(CTC1):c.244T>C (p.Cys82Arg) rs1987946472
NM_025099.6(CTC1):c.2453G>T (p.Arg818Leu) rs772328631
NM_025099.6(CTC1):c.2459T>C (p.Ile820Thr)
NM_025099.6(CTC1):c.2471C>T (p.Pro824Leu)
NM_025099.6(CTC1):c.2473G>A (p.Ala825Thr) rs915406565
NM_025099.6(CTC1):c.2473G>C (p.Ala825Pro)
NM_025099.6(CTC1):c.2475+3G>A rs1987244042
NM_025099.6(CTC1):c.248G>A (p.Ser83Asn) rs78870822
NM_025099.6(CTC1):c.2497G>A (p.Asp833Asn) rs754510180
NM_025099.6(CTC1):c.2497G>T (p.Asp833Tyr)
NM_025099.6(CTC1):c.2507C>G (p.Ser836Cys) rs1987214622
NM_025099.6(CTC1):c.2510G>A (p.Cys837Tyr) rs377390001
NM_025099.6(CTC1):c.2512A>G (p.Ile838Val)
NM_025099.6(CTC1):c.2519G>A (p.Arg840Gln)
NM_025099.6(CTC1):c.2521C>T (p.Arg841Cys) rs747249710
NM_025099.6(CTC1):c.2524C>T (p.Pro842Ser) rs1354260622
NM_025099.6(CTC1):c.2525C>G (p.Pro842Arg)
NM_025099.6(CTC1):c.2537C>T (p.Ala846Val)
NM_025099.6(CTC1):c.2546C>T (p.Ala849Val) rs1987209622
NM_025099.6(CTC1):c.2570A>G (p.Asn857Ser)
NM_025099.6(CTC1):c.2602A>G (p.Ile868Val) rs1555532937
NM_025099.6(CTC1):c.2627A>T (p.Lys876Met)
NM_025099.6(CTC1):c.263G>A (p.Ser88Asn) rs1987944023
NM_025099.6(CTC1):c.2651C>T (p.Thr884Ile)
NM_025099.6(CTC1):c.2653G>T (p.Asp885Tyr) rs370102181
NM_025099.6(CTC1):c.2668A>G (p.Asn890Asp)
NM_025099.6(CTC1):c.2670-3C>G rs765650487
NM_025099.6(CTC1):c.2670-3C>T rs765650487
NM_025099.6(CTC1):c.2678A>G (p.Asp893Gly)
NM_025099.6(CTC1):c.2681C>A (p.Ser894Tyr) rs754401174
NM_025099.6(CTC1):c.2699C>T (p.Ala900Val) rs1408453833
NM_025099.6(CTC1):c.269G>A (p.Ser90Asn)
NM_025099.6(CTC1):c.26C>A (p.Pro9His) rs377386669
NM_025099.6(CTC1):c.26C>T (p.Pro9Leu) rs377386669
NM_025099.6(CTC1):c.2704A>G (p.Ile902Val) rs2151504713
NM_025099.6(CTC1):c.2714G>A (p.Arg905Gln)
NM_025099.6(CTC1):c.2727A>C (p.Glu909Asp)
NM_025099.6(CTC1):c.2738C>T (p.Ala913Val) rs771428933
NM_025099.6(CTC1):c.2743C>T (p.Leu915Phe) rs778391511
NM_025099.6(CTC1):c.2749A>G (p.Met917Val)
NM_025099.6(CTC1):c.2750T>G (p.Met917Arg) rs1987130951
NM_025099.6(CTC1):c.2758+4A>G rs754205135
NM_025099.6(CTC1):c.2759-7T>G
NM_025099.6(CTC1):c.2763C>G (p.Asn921Lys)
NM_025099.6(CTC1):c.2775G>T (p.Met925Ile) rs2151504059
NM_025099.6(CTC1):c.2777G>A (p.Arg926Lys)
NM_025099.6(CTC1):c.2783G>A (p.Cys928Tyr) rs373660155
NM_025099.6(CTC1):c.278A>G (p.Gln93Arg)
NM_025099.6(CTC1):c.2809A>T (p.Thr937Ser) rs1370736551
NM_025099.6(CTC1):c.2819G>A (p.Cys940Tyr)
NM_025099.6(CTC1):c.2830C>T (p.Pro944Ser) rs1299588337
NM_025099.6(CTC1):c.2835C>A (p.His945Gln)
NM_025099.6(CTC1):c.2865G>T (p.Leu955Phe)
NM_025099.6(CTC1):c.2866C>T (p.Pro956Ser) rs1987108095
NM_025099.6(CTC1):c.2867C>T (p.Pro956Leu) rs1345126351
NM_025099.6(CTC1):c.286G>A (p.Ala96Thr) rs751570124
NM_025099.6(CTC1):c.2881C>G (p.Leu961Val) rs1567600596
NM_025099.6(CTC1):c.2882T>C (p.Leu961Pro)
NM_025099.6(CTC1):c.2888C>G (p.Pro963Arg)
NM_025099.6(CTC1):c.2893G>A (p.Ala965Thr) rs1987104593
NM_025099.6(CTC1):c.2894C>T (p.Ala965Val) rs1987104355
NM_025099.6(CTC1):c.2897G>C (p.Arg966Pro) rs759485791
NM_025099.6(CTC1):c.2908A>G (p.Ser970Gly)
NM_025099.6(CTC1):c.2917G>A (p.Glu973Lys)
NM_025099.6(CTC1):c.2933+3G>A rs878855127
NM_025099.6(CTC1):c.2934-3C>G
NM_025099.6(CTC1):c.29C>G (p.Ser10Cys) rs745686555
NM_025099.6(CTC1):c.29C>T (p.Ser10Phe) rs745686555
NM_025099.6(CTC1):c.3004A>G (p.Thr1002Ala) rs1987062062
NM_025099.6(CTC1):c.3011+3C>T rs1316252024
NM_025099.6(CTC1):c.3012-3T>C
NM_025099.6(CTC1):c.3013A>T (p.Ile1005Phe)
NM_025099.6(CTC1):c.3023C>G (p.Pro1008Arg)
NM_025099.6(CTC1):c.3028A>C (p.Ile1010Leu)
NM_025099.6(CTC1):c.3031T>C (p.Tyr1011His)
NM_025099.6(CTC1):c.3047T>A (p.Leu1016Gln) rs2151500704
NM_025099.6(CTC1):c.3059A>C (p.Gln1020Pro) rs1987017237
NM_025099.6(CTC1):c.3093C>T (p.Ile1031=)
NM_025099.6(CTC1):c.3110T>C (p.Leu1037Pro)
NM_025099.6(CTC1):c.3113A>C (p.Gln1038Pro) rs1486092046
NM_025099.6(CTC1):c.311A>C (p.Asn104Thr)
NM_025099.6(CTC1):c.312C>A (p.Asn104Lys) rs1987939410
NM_025099.6(CTC1):c.3131C>T (p.Ala1044Val) rs1987009040
NM_025099.6(CTC1):c.313C>T (p.Pro105Ser)
NM_025099.6(CTC1):c.3152G>A (p.Arg1051Gln)
NM_025099.6(CTC1):c.3156+6G>A rs1597374105
NM_025099.6(CTC1):c.3157-19A>G
NM_025099.6(CTC1):c.3176G>A (p.Gly1059Asp) rs957741030
NM_025099.6(CTC1):c.3195_3203dup (p.Ala1067_Ile1068insMetThrAla)
NM_025099.6(CTC1):c.3197C>G (p.Thr1066Arg) rs767106179
NM_025099.6(CTC1):c.320C>G (p.Pro107Arg) rs760362880
NM_025099.6(CTC1):c.320C>T (p.Pro107Leu) rs760362880
NM_025099.6(CTC1):c.3214A>G (p.Ile1072Val)
NM_025099.6(CTC1):c.323G>A (p.Arg108Gln) rs368398609
NM_025099.6(CTC1):c.3251C>T (p.Ala1084Val) rs2151499036
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.3266G>A (p.Arg1089Lys)
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) rs1986957283
NM_025099.6(CTC1):c.3278T>C (p.Val1093Ala) rs2151498924
NM_025099.6(CTC1):c.3280G>A (p.Ala1094Thr) rs773036519
NM_025099.6(CTC1):c.3299G>C (p.Cys1100Ser) rs2151498826
NM_025099.6(CTC1):c.32C>A (p.Ser11Tyr) rs1988915221
NM_025099.6(CTC1):c.33+4A>G rs1988914364
NM_025099.6(CTC1):c.33+6T>C
NM_025099.6(CTC1):c.3301C>A (p.Pro1101Thr) rs1597373346
NM_025099.6(CTC1):c.3302C>T (p.Pro1101Leu)
NM_025099.6(CTC1):c.3331G>A (p.Val1111Ile)
NM_025099.6(CTC1):c.3331G>C (p.Val1111Leu) rs374284337
NM_025099.6(CTC1):c.3351G>A (p.Val1117=)
NM_025099.6(CTC1):c.3356_3358dup (p.Leu1119dup) rs1986946908
NM_025099.6(CTC1):c.3367G>A (p.Gly1123Arg)
NM_025099.6(CTC1):c.3371C>T (p.Pro1124Leu)
NM_025099.6(CTC1):c.3377C>T (p.Ala1126Val)
NM_025099.6(CTC1):c.3388-11_3388-9del rs1262324249
NM_025099.6(CTC1):c.3394G>A (p.Ala1132Thr) rs1986931683
NM_025099.6(CTC1):c.33C>T (p.Ser11=) rs757066174
NM_025099.6(CTC1):c.3401T>C (p.Val1134Ala)
NM_025099.6(CTC1):c.3409C>T (p.Pro1137Ser) rs2151498057
NM_025099.6(CTC1):c.3410C>G (p.Pro1137Arg)
NM_025099.6(CTC1):c.3413T>A (p.Met1138Lys) rs376216450
NM_025099.6(CTC1):c.3421T>C (p.Phe1141Leu) rs1302492698
NM_025099.6(CTC1):c.3425_3426delinsAT (p.Leu1142His) rs199473681
NM_025099.6(CTC1):c.3434T>G (p.Leu1145Arg)
NM_025099.6(CTC1):c.3436T>C (p.Cys1146Arg)
NM_025099.6(CTC1):c.3440C>G (p.Thr1147Ser) rs771446414
NM_025099.6(CTC1):c.3454C>G (p.Leu1152Val)
NM_025099.6(CTC1):c.3456_3462del (p.Arg1153fs) rs1986920257
NM_025099.6(CTC1):c.3457C>T (p.Arg1153Cys)
NM_025099.6(CTC1):c.3458G>C (p.Arg1153Pro) rs748674791
NM_025099.6(CTC1):c.3472T>C (p.Ser1158Pro)
NM_025099.6(CTC1):c.3476T>C (p.Phe1159Ser)
NM_025099.6(CTC1):c.3490A>G (p.Lys1164Glu) rs1986917089
NM_025099.6(CTC1):c.3491A>C (p.Lys1164Thr)
NM_025099.6(CTC1):c.3496T>A (p.Ser1166Thr)
NM_025099.6(CTC1):c.3497C>T (p.Ser1166Leu)
NM_025099.6(CTC1):c.3506T>C (p.Val1169Ala)
NM_025099.6(CTC1):c.3514+4A>G
NM_025099.6(CTC1):c.3515-3C>T rs776835897
NM_025099.6(CTC1):c.3521C>T (p.Pro1174Leu)
NM_025099.6(CTC1):c.3529C>G (p.Gln1177Glu) rs1349506921
NM_025099.6(CTC1):c.3533G>A (p.Arg1178Gln) rs764813118
NM_025099.6(CTC1):c.3533G>C (p.Arg1178Pro) rs764813118
NM_025099.6(CTC1):c.3567C>G (p.His1189Gln) rs374942931
NM_025099.6(CTC1):c.3577A>G (p.Arg1193Gly) rs2151496778
NM_025099.6(CTC1):c.3583C>G (p.Arg1195Gly) rs199473682
NM_025099.6(CTC1):c.3584G>A (p.Arg1195Gln) rs1206095374
NM_025099.6(CTC1):c.3585del (p.Leu1196fs)
NM_025099.6(CTC1):c.3598T>A (p.Ser1200Thr)
NM_025099.6(CTC1):c.3601A>C (p.Ile1201Leu)
NM_025099.6(CTC1):c.3628C>G (p.Leu1210Val)
NM_025099.6(CTC1):c.3638T>C (p.Leu1213Pro)
NM_025099.6(CTC1):c.3649T>C (p.Cys1217Arg) rs1432386993
NM_025099.6(CTC1):c.383G>T (p.Cys128Phe) rs1339616084
NM_025099.6(CTC1):c.398T>C (p.Leu133Pro)
NM_025099.6(CTC1):c.400T>C (p.Tyr134His)
NM_025099.6(CTC1):c.401A>G (p.Tyr134Cys) rs2151531350
NM_025099.6(CTC1):c.40G>A (p.Ala14Thr)
NM_025099.6(CTC1):c.411T>G (p.Asp137Glu)
NM_025099.6(CTC1):c.412A>G (p.Asn138Asp)
NM_025099.6(CTC1):c.413A>G (p.Asn138Ser)
NM_025099.6(CTC1):c.416C>G (p.Thr139Ser) rs2151531295
NM_025099.6(CTC1):c.429C>G (p.Ser143Arg)
NM_025099.6(CTC1):c.435+3G>T rs6503093
NM_025099.6(CTC1):c.436-10T>A
NM_025099.6(CTC1):c.439A>G (p.Ile147Val)
NM_025099.6(CTC1):c.440T>C (p.Ile147Thr)
NM_025099.6(CTC1):c.450C>G (p.Asp150Glu) rs2151530771
NM_025099.6(CTC1):c.455C>G (p.Ser152Cys) rs1987914806
NM_025099.6(CTC1):c.455C>T (p.Ser152Phe) rs1987914806
NM_025099.6(CTC1):c.463G>A (p.Gly155Ser)
NM_025099.6(CTC1):c.466C>G (p.His156Asp) rs1987914284
NM_025099.6(CTC1):c.467A>G (p.His156Arg)
NM_025099.6(CTC1):c.470T>C (p.Leu157Pro) rs747551190
NM_025099.6(CTC1):c.480C>G (p.Phe160Leu)
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.52G>C (p.Asp18His) rs1988413224
NM_025099.6(CTC1):c.534C>G (p.His178Gln) rs1251648065
NM_025099.6(CTC1):c.53_55dup (p.Asp18_Ala19insAsp)
NM_025099.6(CTC1):c.547G>A (p.Asp183Asn) rs751596403
NM_025099.6(CTC1):c.556G>A (p.Val186Met) rs185346402
NM_025099.6(CTC1):c.556G>C (p.Val186Leu) rs185346402
NM_025099.6(CTC1):c.574A>G (p.Thr192Ala)
NM_025099.6(CTC1):c.575C>G (p.Thr192Ser)
NM_025099.6(CTC1):c.583C>T (p.Pro195Ser) rs2151530350
NM_025099.6(CTC1):c.596C>G (p.Thr199Arg) rs747323535
NM_025099.6(CTC1):c.622A>G (p.Ser208Gly)
NM_025099.6(CTC1):c.623G>A (p.Ser208Asn)
NM_025099.6(CTC1):c.647+6T>C
NM_025099.6(CTC1):c.647G>A (p.Arg216Lys)
NM_025099.6(CTC1):c.656T>C (p.Leu219Pro) rs750372074
NM_025099.6(CTC1):c.662G>A (p.Gly221Asp) rs1987831900
NM_025099.6(CTC1):c.66C>T (p.Phe22=)
NM_025099.6(CTC1):c.671G>A (p.Arg224Gln)
NM_025099.6(CTC1):c.67A>T (p.Ile23Phe)
NM_025099.6(CTC1):c.702T>G (p.Ser234Arg)
NM_025099.6(CTC1):c.71A>G (p.Gln24Arg)
NM_025099.6(CTC1):c.736A>G (p.Ile246Val)
NM_025099.6(CTC1):c.737T>C (p.Ile246Thr) rs2151527713
NM_025099.6(CTC1):c.743C>T (p.Ser248Phe)
NM_025099.6(CTC1):c.745C>G (p.Leu249Val) rs1987824590
NM_025099.6(CTC1):c.745C>T (p.Leu249Phe) rs1987824590
NM_025099.6(CTC1):c.751A>G (p.Arg251Gly) rs1987824097
NM_025099.6(CTC1):c.754T>G (p.Ser252Ala)
NM_025099.6(CTC1):c.787G>A (p.Val263Met)
NM_025099.6(CTC1):c.787G>C (p.Val263Leu) rs1010062693
NM_025099.6(CTC1):c.799G>A (p.Ala267Thr) rs1315598261
NM_025099.6(CTC1):c.7G>T (p.Ala3Ser)
NM_025099.6(CTC1):c.808G>T (p.Val270Leu)
NM_025099.6(CTC1):c.811T>C (p.Trp271Arg) rs1313170347
NM_025099.6(CTC1):c.813G>T (p.Trp271Cys)
NM_025099.6(CTC1):c.826C>T (p.Arg276Trp) rs267605102
NM_025099.6(CTC1):c.833G>T (p.Gly278Val) rs768853291
NM_025099.6(CTC1):c.874C>G (p.Arg292Gly) rs1013688033
NM_025099.6(CTC1):c.875G>A (p.Arg292His)
NM_025099.6(CTC1):c.884_889del (p.Arg295_Gln296del) rs2151523720
NM_025099.6(CTC1):c.892G>T (p.Val298Phe) rs2151523686
NM_025099.6(CTC1):c.8C>T (p.Ala3Val) rs923853643
NM_025099.6(CTC1):c.926T>G (p.Leu309Arg) rs1555534628
NM_025099.6(CTC1):c.934C>T (p.Pro312Ser)
NM_025099.6(CTC1):c.951_956del (p.318LE[2]) rs766700799
NM_025099.6(CTC1):c.955G>A (p.Glu319Lys)
NM_025099.6(CTC1):c.955G>C (p.Glu319Gln)
NM_025099.6(CTC1):c.958_969del (p.318LE[1]) rs763129063
NM_025099.6(CTC1):c.973C>T (p.Pro325Ser)
NM_025099.6(CTC1):c.990_991delinsTA (p.Pro331Thr) rs2151523180

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