ClinVar Miner

List of variants in gene CTC1 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 755
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HGVS dbSNP gnomAD frequency
NM_025099.6(CTC1):c.*825C>T rs3027248 0.00659
NM_025099.6(CTC1):c.*558G>A rs112446369 0.00150
NM_025099.6(CTC1):c.2478A>G (p.Thr826=) rs200643329 0.00136
NM_025099.6(CTC1):c.3604C>T (p.Arg1202Ter) rs147714487 0.00118
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser) rs200440641 0.00117
NM_025099.6(CTC1):c.147C>T (p.Val49=) rs201492796 0.00114
NM_025099.6(CTC1):c.663T>C (p.Gly221=) rs138725914 0.00105
NM_025099.6(CTC1):c.1728G>A (p.Pro576=) rs78320653 0.00083
NM_025099.6(CTC1):c.*3186G>A rs8072826 0.00081
NM_025099.6(CTC1):c.*234C>T rs570408909 0.00070
NM_025099.6(CTC1):c.*1410A>G rs570429563 0.00064
NM_025099.6(CTC1):c.2522G>A (p.Arg841His) rs780358670 0.00049
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln) rs201891953 0.00048
NM_025099.6(CTC1):c.*1997dup rs141982483 0.00036
NM_025099.6(CTC1):c.1734C>T (p.Ala578=) rs374985738 0.00036
NM_025099.6(CTC1):c.2803C>T (p.Leu935Phe) rs542477730 0.00035
NM_025099.6(CTC1):c.*1853G>A rs540866407 0.00034
NM_025099.6(CTC1):c.*797C>T rs142486253 0.00033
NM_025099.6(CTC1):c.1564C>T (p.Arg522Trp) rs199698527 0.00032
NM_025099.6(CTC1):c.2174C>G (p.Pro725Arg) rs371046424 0.00032
NM_025099.6(CTC1):c.1207-4C>T rs369904656 0.00031
NM_025099.6(CTC1):c.194A>G (p.Tyr65Cys) rs201731405 0.00031
NM_025099.6(CTC1):c.2737G>A (p.Ala913Thr) rs201203345 0.00031
NM_025099.6(CTC1):c.2828C>T (p.Pro943Leu) rs376216833 0.00028
NM_025099.6(CTC1):c.*536T>G rs533538191 0.00025
NM_025099.6(CTC1):c.2506T>C (p.Ser836Pro) rs62637612 0.00024
NM_025099.6(CTC1):c.34-9T>G rs201195157 0.00024
NM_025099.6(CTC1):c.862G>A (p.Val288Met) rs201553464 0.00024
NM_025099.6(CTC1):c.3463A>G (p.Ile1155Val) rs571554235 0.00022
NM_025099.6(CTC1):c.3498G>A (p.Ser1166=) rs369209127 0.00022
NM_025099.6(CTC1):c.3515-10C>T rs200225342 0.00022
NM_025099.6(CTC1):c.1333C>T (p.Arg445Cys) rs201273283 0.00021
NM_025099.6(CTC1):c.2895C>T (p.Ala965=) rs373530008 0.00019
NM_025099.6(CTC1):c.3340C>T (p.Pro1114Ser) rs370564569 0.00019
NM_025099.6(CTC1):c.597G>A (p.Thr199=) rs373023392 0.00019
NM_025099.6(CTC1):c.2345G>C (p.Gly782Ala) rs530949904 0.00018
NM_025099.6(CTC1):c.*1046T>C rs550911189 0.00016
NM_025099.6(CTC1):c.*2530G>A rs780560618 0.00016
NM_025099.6(CTC1):c.1760A>G (p.Asn587Ser) rs376302717 0.00015
NM_025099.6(CTC1):c.*1042T>C rs974655494 0.00014
NM_025099.6(CTC1):c.3151C>T (p.Arg1051Trp) rs370674203 0.00014
NM_025099.6(CTC1):c.*64T>G rs886053609 0.00013
NM_025099.6(CTC1):c.3083C>T (p.Ser1028Phe) rs779906449 0.00013
NM_025099.6(CTC1):c.*1630G>A rs77202978 0.00012
NM_025099.6(CTC1):c.2767G>T (p.Gly923Trp) rs771646414 0.00011
NM_025099.6(CTC1):c.*1201T>C rs886053603 0.00010
NM_025099.6(CTC1):c.*1475A>G rs745973862 0.00010
NM_025099.6(CTC1):c.*1573A>G rs546867578 0.00010
NM_025099.6(CTC1):c.*1861A>G rs868663416 0.00010
NM_025099.6(CTC1):c.3317C>A (p.Ser1106Tyr) rs367822614 0.00010
NM_025099.6(CTC1):c.391G>A (p.Gly131Arg) rs200137992 0.00010
NM_025099.6(CTC1):c.*2353A>G rs559152657 0.00009
NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln) rs775779700 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_025099.6(CTC1):c.*474G>A rs139392724 0.00008
NM_025099.6(CTC1):c.1379G>A (p.Arg460His) rs200619397 0.00008
NM_025099.6(CTC1):c.1946-6C>T rs369285521 0.00008
NM_025099.6(CTC1):c.195T>C (p.Tyr65=) rs764616648 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.*1711A>G rs563822041 0.00007
NM_025099.6(CTC1):c.*2842G>A rs1035127593 0.00007
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_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.2472C>T (p.Pro824=) rs558802130 0.00006
NM_025099.6(CTC1):c.2510G>C (p.Cys837Ser) rs377390001 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_025099.6(CTC1):c.*2146G>A rs773269538 0.00005
NM_025099.6(CTC1):c.*2296T>A rs777042904 0.00005
NM_025099.6(CTC1):c.*3079C>T rs890664978 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.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.648-9C>T rs779778738 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_025099.6(CTC1):c.*1964G>A rs1167690919 0.00004
NM_025099.6(CTC1):c.*2007A>G rs886053591 0.00004
NM_025099.6(CTC1):c.*218T>G rs886053607 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.1542A>G (p.Leu514=) rs369802087 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.2461G>T (p.Ala821Ser) rs771475755 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.3222-4A>G rs562479062 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_025099.6(CTC1):c.*1286A>G rs886053601 0.00003
NM_025099.6(CTC1):c.*1438C>G rs141383858 0.00003
NM_025099.6(CTC1):c.*1852G>A rs559541027 0.00003
NM_025099.6(CTC1):c.*445A>T rs977398110 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_025099.6(CTC1):c.3504C>T (p.Ile1168=) rs760547081 0.00003
NM_025099.6(CTC1):c.*2685C>T rs886053588 0.00002
NM_025099.6(CTC1):c.*642A>G rs1282456436 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.363G>A (p.Ser121=) rs770555372 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.980T>C (p.Leu327Ser) rs902038280 0.00002
NM_025099.6(CTC1):c.*1061C>T rs1240025210 0.00001
NM_025099.6(CTC1):c.*1204T>C rs886053602 0.00001
NM_025099.6(CTC1):c.*1578T>A rs535373058 0.00001
NM_025099.6(CTC1):c.*1994A>G rs897034375 0.00001
NM_025099.6(CTC1):c.*207T>C rs774013108 0.00001
NM_025099.6(CTC1):c.*2337G>A rs1311396995 0.00001
NM_025099.6(CTC1):c.*286G>A rs886053606 0.00001
NM_025099.6(CTC1):c.*305G>A rs1161700028 0.00001
NM_025099.6(CTC1):c.*384G>A rs912438390 0.00001
NM_025099.6(CTC1):c.*509C>T rs758527781 0.00001
NM_025099.6(CTC1):c.*759A>G rs1986820804 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.1078-13G>A rs200325111 0.00001
NM_025099.6(CTC1):c.1092C>T (p.Gly364=) rs761668228 0.00001
NM_025099.6(CTC1):c.1094T>C (p.Val365Ala) rs763967881 0.00001
NM_025099.6(CTC1):c.1117T>C (p.Tyr373His) rs1200884099 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.1500C>T (p.Pro500=) rs761750183 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.1548G>A (p.Pro516=) rs781000475 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.1819-14T>G rs753627056 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.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.2385+2T>C rs1597378045 0.00001
NM_025099.6(CTC1):c.2386-10A>G rs746382653 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.2439G>A (p.Pro813=) rs200759730 0.00001
NM_025099.6(CTC1):c.2477C>A (p.Thr826Lys) rs757061571 0.00001
NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp) rs373905859 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.2686G>T (p.Val896Leu) rs761241839 0.00001
NM_025099.6(CTC1):c.2698G>A (p.Ala900Thr) rs371670247 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.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.3190A>G (p.Thr1064Ala) rs777357385 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.740T>C (p.Leu247Pro) rs774742711 0.00001
NM_025099.6(CTC1):c.770C>T (p.Thr257Ile) rs1007776903 0.00001
NM_025099.6(CTC1):c.780C>T (p.Ser260=) rs769988270 0.00001
NM_025099.6(CTC1):c.793-13C>G rs957555496 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
NM_025099.6(CTC1):c.*1052T>G rs201297846
NM_025099.6(CTC1):c.*1053T>C rs1158073985
NM_025099.6(CTC1):c.*1102C>T rs3027249
NM_025099.6(CTC1):c.*1107A>G rs573286497
NM_025099.6(CTC1):c.*1191T>A rs540304901
NM_025099.6(CTC1):c.*1191T>C rs540304901
NM_025099.6(CTC1):c.*1308T>A rs574820085
NM_025099.6(CTC1):c.*1420A>T rs533674362
NM_025099.6(CTC1):c.*1473C>G rs377086928
NM_025099.6(CTC1):c.*1478C>A rs146427367
NM_025099.6(CTC1):c.*1479C>T rs796651282
NM_025099.6(CTC1):c.*1594_*1597del rs886053597
NM_025099.6(CTC1):c.*1599_*1603delinsTGGAGAGAAATA rs886053596
NM_025099.6(CTC1):c.*1600T>A rs751150794
NM_025099.6(CTC1):c.*1603T>A rs763671822
NM_025099.6(CTC1):c.*1792G>A rs886053595
NM_025099.6(CTC1):c.*1807G>C rs3027251
NM_025099.6(CTC1):c.*1844G>C rs3027252
NM_025099.6(CTC1):c.*1856C>T rs145845338
NM_025099.6(CTC1):c.*1857C>T rs886053594
NM_025099.6(CTC1):c.*1867G>A rs961793089
NM_025099.6(CTC1):c.*1868C>A rs535981109
NM_025099.6(CTC1):c.*2013G>A rs886053590
NM_025099.6(CTC1):c.*2070G>A rs772156574
NM_025099.6(CTC1):c.*2090G>A rs1033226989
NM_025099.6(CTC1):c.*2242G>A rs868833357
NM_025099.6(CTC1):c.*2364AT[3] rs886053589
NM_025099.6(CTC1):c.*2425T>C rs1986579685
NM_025099.6(CTC1):c.*2498G>A rs952734766
NM_025099.6(CTC1):c.*2536C>T rs1656306673
NM_025099.6(CTC1):c.*2725T>A rs1986555540
NM_025099.6(CTC1):c.*274C>T rs533383004
NM_025099.6(CTC1):c.*2784G>A rs886053587
NM_025099.6(CTC1):c.*2926G>C rs934312840
NM_025099.6(CTC1):c.*3198G>T rs568877108
NM_025099.6(CTC1):c.*429C>T rs1286225682
NM_025099.6(CTC1):c.*65C>A rs886053608
NM_025099.6(CTC1):c.*663G>A rs183099496
NM_025099.6(CTC1):c.*808G>A rs1986816320
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.104A>G (p.Asn35Ser) rs1597396885
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.1099A>C (p.Asn367His) rs2095866519
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.1193G>C (p.Gly398Ala)
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.1207-2A>C rs2151520411
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.1231T>A (p.Ser411Thr) rs765850921
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.1307G>C (p.Arg436Pro)
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.133T>G (p.Cys45Gly)
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.1396del (p.Leu466fs) rs1567608566
NM_025099.6(CTC1):c.1397T>A (p.Leu466His)
NM_025099.6(CTC1):c.1400A>G (p.Tyr467Cys) rs1987589226
NM_025099.6(CTC1):c.1439A>G (p.Lys480Arg)
NM_025099.6(CTC1):c.1440-5C>T rs1987573771
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.1535A>T (p.Asp512Val)
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.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.187C>T (p.Leu63Phe)
NM_025099.6(CTC1):c.1883G>T (p.Gly628Val)
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.2048A>C (p.Lys683Thr) rs2151510866
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+12G>A rs1987317835
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.2253A>G (p.Gly751=) rs1164794062
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.2282T>G (p.Leu761Arg)
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.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.265AGT[3] (p.Ser90dup) rs879863262
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.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.2831C>T (p.Pro944Leu) rs1987110819
NM_025099.6(CTC1):c.2835C>A (p.His945Gln)
NM_025099.6(CTC1):c.2843T>G (p.Val948Gly) rs2151503717
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.295G>C (p.Ala99Pro) rs2151531876
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.3024C>G (p.Pro1008=) rs1987021468
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.3104del (p.Phe1035fs) rs1567599198
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.3136del (p.Cys1046fs) rs1223080335
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.3166A>G (p.Thr1056Ala)
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.3206G>A (p.Ser1069Asn)
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.3221+5G>C rs1986987980
NM_025099.6(CTC1):c.3222-9T>A rs2151499132
NM_025099.6(CTC1):c.323G>A (p.Arg108Gln) rs368398609
NM_025099.6(CTC1):c.3241A>C (p.Thr1081Pro)
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.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.3333C>T (p.Val1111=) rs2151498663
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.3387+3G>A rs2151498493
NM_025099.6(CTC1):c.3387+5A>G
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.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.3415A>G (p.Thr1139Ala)
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.3456C>T (p.Leu1152=) rs2151497808
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.397C>G (p.Leu133Val) rs1597389239
NM_025099.6(CTC1):c.398T>C (p.Leu133Pro)
NM_025099.6(CTC1):c.400T>C (p.Tyr134His)
NM_025099.6(CTC1):c.400dup (p.Tyr134fs) rs1555535288
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.615C>T (p.Tyr205=) rs571035242
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.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.853G>C (p.Glu285Gln) rs2151523962
NM_025099.6(CTC1):c.860G>A (p.Arg287Gln) rs1987718148
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.910T>G (p.Ser304Ala)
NM_025099.6(CTC1):c.911C>T (p.Ser304Phe)
NM_025099.6(CTC1):c.917G>T (p.Arg306Leu) rs567779457
NM_025099.6(CTC1):c.926T>C (p.Leu309Pro) rs1555534628
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
NM_025099.6(CTC1):c.991C>A (p.Pro331Thr)

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