ClinVar Miner

List of variants in gene C8B studied for not provided

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Gene type:
ClinVar version:
Total variants: 367
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HGVS dbSNP gnomAD frequency
NM_000066.4(C8B):c.349G>A (p.Gly117Arg) rs1013579 0.97877
NM_000066.4(C8B):c.1622-20A>G rs605648 0.84486
NM_000066.4(C8B):c.322G>A (p.Glu108Lys) rs12067507 0.05442
NM_000066.4(C8B):c.782C>T (p.Pro261Leu) rs12085435 0.05435
NM_000066.4(C8B):c.1287A>C (p.Gly429=) rs856841 0.01521
NM_000066.4(C8B):c.250-20C>G rs114982349 0.00722
NM_000066.4(C8B):c.1625C>T (p.Thr542Ile) rs61737417 0.00630
NM_000066.4(C8B):c.1144G>T (p.Asp382Tyr) rs139498867 0.00442
NM_000066.4(C8B):c.606G>A (p.Pro202=) rs34438223 0.00364
NM_000066.4(C8B):c.132C>G (p.Asn44Lys) rs147505103 0.00223
NM_000066.4(C8B):c.957G>C (p.Gln319His) rs146176997 0.00159
NM_000066.4(C8B):c.258T>C (p.Tyr86=) rs113900156 0.00148
NM_000066.4(C8B):c.1282C>T (p.Arg428Ter) rs41286844 0.00118
NM_000066.4(C8B):c.681C>T (p.Tyr227=) rs138606922 0.00093
NM_000066.4(C8B):c.724C>T (p.Arg242Cys) rs150146785 0.00086
NM_000066.4(C8B):c.585T>C (p.Tyr195=) rs143870427 0.00085
NM_000066.4(C8B):c.150C>G (p.Ser50Arg) rs150386354 0.00083
NM_000066.4(C8B):c.392-12T>C rs181374539 0.00076
NM_000066.4(C8B):c.1607T>A (p.Val536Asp) rs143417649 0.00073
NM_000066.4(C8B):c.1716T>G (p.Pro572=) rs149900569 0.00067
NM_000066.4(C8B):c.297G>A (p.Pro99=) rs151032934 0.00059
NM_000066.4(C8B):c.1398+6C>T rs373203493 0.00052
NM_000066.4(C8B):c.967C>T (p.Arg323Trp) rs141295453 0.00046
NM_000066.4(C8B):c.1012C>T (p.Arg338Cys) rs141136423 0.00042
NM_000066.4(C8B):c.212C>G (p.Ser71Cys) rs148570619 0.00025
NM_000066.4(C8B):c.1338G>A (p.Ala446=) rs199673976 0.00024
NM_000066.4(C8B):c.271C>T (p.Gln91Ter) rs146187042 0.00023
NM_000066.4(C8B):c.908A>G (p.His303Arg) rs545706495 0.00023
NM_000066.4(C8B):c.624G>A (p.Thr208=) rs148088012 0.00021
NM_000066.4(C8B):c.865-10T>C rs369071394 0.00019
NM_000066.4(C8B):c.1235-9C>A rs529115326 0.00018
NM_000066.4(C8B):c.1268T>C (p.Leu423Ser) rs370269698 0.00017
NM_000066.4(C8B):c.1616G>A (p.Arg539Gln) rs530148306 0.00017
NM_000066.4(C8B):c.1234+6T>C rs759561922 0.00016
NM_000066.4(C8B):c.1492A>G (p.Lys498Glu) rs200245622 0.00013
NM_000066.4(C8B):c.164G>A (p.Ser55Asn) rs144586148 0.00013
NM_000066.4(C8B):c.1283G>A (p.Arg428Gln) rs199592536 0.00012
NM_000066.4(C8B):c.33G>A (p.Ala11=) rs766065295 0.00012
NM_000066.4(C8B):c.353G>A (p.Ser118Asn) rs149147808 0.00012
NM_000066.4(C8B):c.108T>C (p.His36=) rs199852869 0.00011
NM_000066.4(C8B):c.1441del (p.Tyr481fs) rs752754320 0.00011
NM_000066.4(C8B):c.407G>A (p.Arg136His) rs200374059 0.00011
NM_000066.4(C8B):c.605C>T (p.Pro202Leu) rs142822254 0.00011
NM_000066.4(C8B):c.1075G>A (p.Val359Ile) rs148695486 0.00009
NM_000066.4(C8B):c.161G>A (p.Arg54Gln) rs772116036 0.00009
NM_000066.4(C8B):c.1739G>T (p.Cys580Phe) rs139167053 0.00009
NM_000066.4(C8B):c.32C>T (p.Ala11Val) rs375318933 0.00007
NM_000066.4(C8B):c.371G>C (p.Gly124Ala) rs888935609 0.00007
NM_000066.4(C8B):c.754T>A (p.Ser252Thr) rs201398867 0.00007
NM_000066.4(C8B):c.27G>A (p.Trp9Ter) rs759074976 0.00006
NM_000066.4(C8B):c.820C>T (p.Arg274Ter) rs140813121 0.00006
NM_000066.4(C8B):c.930C>T (p.Ser310=) rs141429572 0.00006
NM_000066.4(C8B):c.1157G>A (p.Gly386Asp) rs373307501 0.00005
NM_000066.4(C8B):c.1234+5G>C rs202043901 0.00005
NM_000066.4(C8B):c.1405C>T (p.Pro469Ser) rs142870813 0.00005
NM_000066.4(C8B):c.1622-3T>C rs749563397 0.00005
NM_000066.4(C8B):c.318A>C (p.Glu106Asp) rs373375237 0.00005
NM_000066.4(C8B):c.444C>G (p.Asp148Glu) rs151302643 0.00005
NM_000066.4(C8B):c.1046T>C (p.Val349Ala) rs768844606 0.00004
NM_000066.4(C8B):c.1442A>G (p.Tyr481Cys) rs373866445 0.00004
NM_000066.4(C8B):c.1681C>T (p.Arg561Cys) rs567887687 0.00004
NM_000066.4(C8B):c.1723A>G (p.Asn575Asp) rs190080984 0.00004
NM_000066.4(C8B):c.250-12T>A rs199751348 0.00004
NM_000066.4(C8B):c.276C>T (p.Pro92=) rs138368595 0.00004
NM_000066.4(C8B):c.302A>G (p.Asn101Ser) rs774905937 0.00004
NM_000066.4(C8B):c.406C>T (p.Arg136Cys) rs376708486 0.00004
NM_000066.4(C8B):c.523C>G (p.Leu175Val) rs377140731 0.00004
NM_000066.4(C8B):c.574G>C (p.Asp192His) rs375513059 0.00004
NM_000066.4(C8B):c.887G>A (p.Arg296His) rs781743688 0.00004
NM_000066.4(C8B):c.1445C>T (p.Ser482Phe) rs776057562 0.00003
NM_000066.4(C8B):c.1558C>T (p.Arg520Cys) rs778114966 0.00003
NM_000066.4(C8B):c.603C>T (p.Ser201=) rs572299334 0.00003
NM_000066.4(C8B):c.666+19G>A rs796619714 0.00003
NM_000066.4(C8B):c.990C>T (p.Tyr330=) rs753625747 0.00003
NM_000066.4(C8B):c.1043C>T (p.Ala348Val) rs369565521 0.00002
NM_000066.4(C8B):c.1553-14C>T rs748411642 0.00002
NM_000066.4(C8B):c.1606G>A (p.Val536Ile) rs377623911 0.00002
NM_000066.4(C8B):c.160C>T (p.Arg54Trp) rs773352047 0.00002
NM_000066.4(C8B):c.187A>G (p.Ile63Val) rs370368238 0.00002
NM_000066.4(C8B):c.682G>A (p.Glu228Lys) rs770507328 0.00002
NM_000066.4(C8B):c.739A>T (p.Lys247Ter) rs529668782 0.00002
NM_000066.4(C8B):c.748A>C (p.Ser250Arg) rs768540351 0.00002
NM_000066.4(C8B):c.76A>G (p.Ser26Gly) rs747253150 0.00002
NM_000066.4(C8B):c.805A>C (p.Ser269Arg) rs752999987 0.00002
NM_000066.4(C8B):c.911A>G (p.Tyr304Cys) rs1374819900 0.00002
NM_000066.4(C8B):c.928A>T (p.Ser310Cys) rs371944655 0.00002
NM_000066.4(C8B):c.1013G>A (p.Arg338His) rs762755903 0.00001
NM_000066.4(C8B):c.1071C>T (p.Thr357=) rs376801002 0.00001
NM_000066.4(C8B):c.1123G>A (p.Val375Ile) rs774792617 0.00001
NM_000066.4(C8B):c.113T>G (p.Phe38Cys) rs753054383 0.00001
NM_000066.4(C8B):c.1234+13G>A rs776860903 0.00001
NM_000066.4(C8B):c.1235A>G (p.Asp412Gly) rs374700138 0.00001
NM_000066.4(C8B):c.1265A>C (p.Asp422Ala) rs1434285462 0.00001
NM_000066.4(C8B):c.1276C>T (p.Leu426=) rs760338411 0.00001
NM_000066.4(C8B):c.1322A>G (p.Gln441Arg) rs766613171 0.00001
NM_000066.4(C8B):c.1331C>T (p.Pro444Leu) rs371378397 0.00001
NM_000066.4(C8B):c.1375A>C (p.Asn459His) rs750536393 0.00001
NM_000066.4(C8B):c.1382C>G (p.Ala461Gly) rs757480558 0.00001
NM_000066.4(C8B):c.138C>T (p.Ser46=) rs1402992781 0.00001
NM_000066.4(C8B):c.1399-16C>T rs764403758 0.00001
NM_000066.4(C8B):c.1414G>A (p.Glu472Lys) rs760262006 0.00001
NM_000066.4(C8B):c.1437T>A (p.Phe479Leu) rs554618167 0.00001
NM_000066.4(C8B):c.1438G>A (p.Ala480Thr) rs924523629 0.00001
NM_000066.4(C8B):c.1524C>A (p.Cys508Ter) rs1176902020 0.00001
NM_000066.4(C8B):c.1620G>C (p.Lys540Asn) rs867004391 0.00001
NM_000066.4(C8B):c.1622A>G (p.Asn541Ser) rs371789315 0.00001
NM_000066.4(C8B):c.1653G>A (p.Trp551Ter) rs752357132 0.00001
NM_000066.4(C8B):c.1657A>G (p.Asn553Asp) rs764821136 0.00001
NM_000066.4(C8B):c.1725T>C (p.Asn575=) rs777890753 0.00001
NM_000066.4(C8B):c.178C>T (p.Leu60=) rs1011323446 0.00001
NM_000066.4(C8B):c.352A>T (p.Ser118Cys) rs199745832 0.00001
NM_000066.4(C8B):c.418T>C (p.Cys140Arg) rs767375928 0.00001
NM_000066.4(C8B):c.511G>C (p.Gly171Arg) rs756333844 0.00001
NM_000066.4(C8B):c.515T>C (p.Ile172Thr) rs200647490 0.00001
NM_000066.4(C8B):c.660G>A (p.Thr220=) rs370360066 0.00001
NM_000066.4(C8B):c.725G>A (p.Arg242His) rs369993264 0.00001
NM_000066.4(C8B):c.835A>T (p.Ile279Phe) rs199765748 0.00001
NM_000066.4(C8B):c.840G>A (p.Arg280=) rs769763661 0.00001
NM_000066.4(C8B):c.851G>A (p.Arg284Gln) rs202207968 0.00001
NM_000066.4(C8B):c.966G>A (p.Lys322=) rs369652003 0.00001
NC_000001.10:g.(?_57415208)_(57415445_?)del
NC_000001.10:g.(?_57417701)_(57417873_?)del
NM_000066.4(C8B):c.1003G>A (p.Asp335Asn)
NM_000066.4(C8B):c.1005T>C (p.Asp335=)
NM_000066.4(C8B):c.1008C>G (p.Leu336=)
NM_000066.4(C8B):c.1008C>T (p.Leu336=)
NM_000066.4(C8B):c.1014T>A (p.Arg338=)
NM_000066.4(C8B):c.1017T>C (p.Asp339=)
NM_000066.4(C8B):c.1019T>G (p.Phe340Cys) rs2101408311
NM_000066.4(C8B):c.1020T>C (p.Phe340=) rs771458639
NM_000066.4(C8B):c.1023G>T (p.Gly341=) rs1644933553
NM_000066.4(C8B):c.102G>A (p.Arg34=)
NM_000066.4(C8B):c.1031A>C (p.Tyr344Ser)
NM_000066.4(C8B):c.1031A>G (p.Tyr344Cys) rs773539697
NM_000066.4(C8B):c.1038A>G (p.Thr346=)
NM_000066.4(C8B):c.1046T>A (p.Val349Glu)
NM_000066.4(C8B):c.104C>T (p.Pro35Leu)
NM_000066.4(C8B):c.1057A>G (p.Ile353Val)
NM_000066.4(C8B):c.1074C>A (p.Leu358=) rs149848224
NM_000066.4(C8B):c.1074C>T (p.Leu358=) rs149848224
NM_000066.4(C8B):c.1076T>G (p.Val359Gly) rs2101407857
NM_000066.4(C8B):c.107A>C (p.His36Pro) rs1487950063
NM_000066.4(C8B):c.1093dup (p.Met365fs)
NM_000066.4(C8B):c.1105+1G>A
NM_000066.4(C8B):c.1105+20A>G
NM_000066.4(C8B):c.1106-12T>C
NM_000066.4(C8B):c.1106-2A>G
NM_000066.4(C8B):c.1106-7del
NM_000066.4(C8B):c.1110T>C (p.Tyr370=)
NM_000066.4(C8B):c.1113T>C (p.Thr371=)
NM_000066.4(C8B):c.1115_1116del (p.Leu372fs)
NM_000066.4(C8B):c.1119C>T (p.Asn373=)
NM_000066.4(C8B):c.1122C>T (p.Asn374=)
NM_000066.4(C8B):c.1128T>C (p.His376=)
NM_000066.4(C8B):c.1141A>T (p.Asn381Tyr)
NM_000066.4(C8B):c.1142A>G (p.Asn381Ser)
NM_000066.4(C8B):c.1142dup (p.Asn381fs)
NM_000066.4(C8B):c.1157GTG[1] (p.Gly387del)
NM_000066.4(C8B):c.1164C>T (p.Ala388=)
NM_000066.4(C8B):c.1178A>G (p.Tyr393Cys)
NM_000066.4(C8B):c.1178A>T (p.Tyr393Phe) rs778543261
NM_000066.4(C8B):c.1179C>T (p.Tyr393=)
NM_000066.4(C8B):c.1180G>A (p.Val394Ile)
NM_000066.4(C8B):c.1194G>C (p.Val398=)
NM_000066.4(C8B):c.1197T>C (p.Ser399=)
NM_000066.4(C8B):c.1208G>A (p.Cys403Tyr)
NM_000066.4(C8B):c.1234+14G>A
NM_000066.4(C8B):c.1234G>C (p.Asp412His) rs1644899085
NM_000066.4(C8B):c.1235-20T>C
NM_000066.4(C8B):c.1235-3C>T rs111404913
NM_000066.4(C8B):c.1254C>T (p.Thr418=)
NM_000066.4(C8B):c.1263_1264delinsAA (p.Asp422Asn)
NM_000066.4(C8B):c.1290G>C (p.Gly430=)
NM_000066.4(C8B):c.1298A>C (p.Glu433Ala)
NM_000066.4(C8B):c.1307C>G (p.Thr436Ser)
NM_000066.4(C8B):c.1326G>A (p.Glu442=)
NM_000066.4(C8B):c.1332G>A (p.Pro444=)
NM_000066.4(C8B):c.1334C>T (p.Thr445Met)
NM_000066.4(C8B):c.1335G>A (p.Thr445=)
NM_000066.4(C8B):c.1351G>T (p.Glu451Ter) rs2101385559
NM_000066.4(C8B):c.1355G>A (p.Trp452Ter) rs200077558
NM_000066.4(C8B):c.1355G>C (p.Trp452Ser) rs200077558
NM_000066.4(C8B):c.1357G>C (p.Gly453Arg) rs1644842359
NM_000066.4(C8B):c.1362C>T (p.Asp454=)
NM_000066.4(C8B):c.1363G>A (p.Ala455Thr)
NM_000066.4(C8B):c.1365T>C (p.Ala455=)
NM_000066.4(C8B):c.1376A>G (p.Asn459Ser)
NM_000066.4(C8B):c.1381G>T (p.Ala461Ser)
NM_000066.4(C8B):c.138del (p.Phe47fs)
NM_000066.4(C8B):c.1398+10G>A
NM_000066.4(C8B):c.1398+13G>C
NM_000066.4(C8B):c.1398+13G>T
NM_000066.4(C8B):c.1398+18A>G
NM_000066.4(C8B):c.1398+19C>T
NM_000066.4(C8B):c.1398+9C>T rs116348786
NM_000066.4(C8B):c.1399-12T>C
NM_000066.4(C8B):c.1399-18G>A
NM_000066.4(C8B):c.1458G>A (p.Arg486=)
NM_000066.4(C8B):c.1463A>G (p.Asn488Ser) rs2101357571
NM_000066.4(C8B):c.1466T>G (p.Met489Arg) rs2101357545
NM_000066.4(C8B):c.1479G>A (p.Leu493=)
NM_000066.4(C8B):c.1498G>A (p.Val500Ile) rs2101357396
NM_000066.4(C8B):c.149_153del (p.Ser50fs)
NM_000066.4(C8B):c.1502G>C (p.Ser501Thr)
NM_000066.4(C8B):c.1505C>A (p.Ser502Tyr)
NM_000066.4(C8B):c.1512C>T (p.His504=)
NM_000066.4(C8B):c.1552+2T>C
NM_000066.4(C8B):c.1552+3A>G
NM_000066.4(C8B):c.1553-2A>G
NM_000066.4(C8B):c.1559G>A (p.Arg520His) rs779852251
NM_000066.4(C8B):c.1577C>T (p.Pro526Leu)
NM_000066.4(C8B):c.1591G>A (p.Gly531Ser)
NM_000066.4(C8B):c.1598C>G (p.Ala533Gly)
NM_000066.4(C8B):c.1599C>T (p.Ala533=) rs759908742
NM_000066.4(C8B):c.1618A>T (p.Lys540Ter)
NM_000066.4(C8B):c.1621+13G>A
NM_000066.4(C8B):c.1622-11C>T
NM_000066.4(C8B):c.1622-17G>A
NM_000066.4(C8B):c.1622-4A>G
NM_000066.4(C8B):c.1626C>G (p.Thr542=)
NM_000066.4(C8B):c.1626C>T (p.Thr542=)
NM_000066.4(C8B):c.1628C>A (p.Pro543His) rs746509547
NM_000066.4(C8B):c.1641G>C (p.Lys547Asn)
NM_000066.4(C8B):c.1642T>G (p.Trp548Gly) rs2101343704
NM_000066.4(C8B):c.1643G>A (p.Trp548Ter)
NM_000066.4(C8B):c.164G>T (p.Ser55Ile)
NM_000066.4(C8B):c.1682G>A (p.Arg561His)
NM_000066.4(C8B):c.1683T>C (p.Arg561=)
NM_000066.4(C8B):c.1689A>G (p.Thr563=)
NM_000066.4(C8B):c.1712C>T (p.Pro571Leu) rs775719725
NM_000066.4(C8B):c.1717C>T (p.Pro573Ser)
NM_000066.4(C8B):c.1719T>C (p.Pro573=)
NM_000066.4(C8B):c.1746C>T (p.Gly582=)
NM_000066.4(C8B):c.1747C>T (p.Pro583Ser)
NM_000066.4(C8B):c.1761A>G (p.Thr587=)
NM_000066.4(C8B):c.1767C>G (p.Asp589Glu) rs752783592
NM_000066.4(C8B):c.1770C>T (p.Cys590=)
NM_000066.4(C8B):c.1772C>T (p.Ser591Phe)
NM_000066.4(C8B):c.180G>A (p.Leu60=)
NM_000066.4(C8B):c.183G>A (p.Met61Ile)
NM_000066.4(C8B):c.18A>G (p.Thr6=)
NM_000066.4(C8B):c.192T>C (p.Asp64=)
NM_000066.4(C8B):c.197del (p.Glu66fs)
NM_000066.4(C8B):c.210G>A (p.Trp70Ter)
NM_000066.4(C8B):c.21G>T (p.Trp7Cys)
NM_000066.4(C8B):c.228T>C (p.Cys76=)
NM_000066.4(C8B):c.231C>A (p.Asp77Glu)
NM_000066.4(C8B):c.249+16T>G rs1645154342
NM_000066.4(C8B):c.249+2T>A
NM_000066.4(C8B):c.249+3A>G rs1465352454
NM_000066.4(C8B):c.249G>T (p.Arg83Ser)
NM_000066.4(C8B):c.250-7G>C rs2101453425
NM_000066.4(C8B):c.255G>A (p.Arg85=) rs530181040
NM_000066.4(C8B):c.285C>T (p.Phe95=) rs1213894478
NM_000066.4(C8B):c.290G>A (p.Gly97Glu)
NM_000066.4(C8B):c.296C>T (p.Pro99Leu)
NM_000066.4(C8B):c.297G>T (p.Pro99=) rs151032934
NM_000066.4(C8B):c.310G>A (p.Asp104Asn) rs969282586
NM_000066.4(C8B):c.320T>G (p.Val107Gly)
NM_000066.4(C8B):c.321C>T (p.Val107=)
NM_000066.4(C8B):c.332T>C (p.Val111Ala)
NM_000066.4(C8B):c.336del (p.Asn113fs) rs372968576
NM_000066.4(C8B):c.33_34del (p.Pro12fs)
NM_000066.4(C8B):c.343C>T (p.Pro115Ser)
NM_000066.4(C8B):c.349= (p.Gly117=)
NM_000066.4(C8B):c.355C>T (p.Gln119Ter) rs760669928
NM_000066.4(C8B):c.35C>T (p.Pro12Leu)
NM_000066.4(C8B):c.361C>A (p.Arg121=) rs150022116
NM_000066.4(C8B):c.361C>T (p.Arg121Ter) rs150022116
NM_000066.4(C8B):c.36G>A (p.Pro12=)
NM_000066.4(C8B):c.375T>G (p.Phe125Leu)
NM_000066.4(C8B):c.383C>T (p.Ala128Val) rs2101452663
NM_000066.4(C8B):c.391+13_391+14insTAAATCAATGCAGGAG rs759864328
NM_000066.4(C8B):c.392-18dup rs2101445218
NM_000066.4(C8B):c.420C>T (p.Cys140=)
NM_000066.4(C8B):c.42G>T (p.Glu14Asp)
NM_000066.4(C8B):c.466A>G (p.Arg156Gly)
NM_000066.4(C8B):c.469A>G (p.Arg157Gly)
NM_000066.4(C8B):c.477T>G (p.Tyr159Ter)
NM_000066.4(C8B):c.478A>T (p.Lys160Ter)
NM_000066.4(C8B):c.486T>C (p.Cys162=)
NM_000066.4(C8B):c.491A>G (p.His164Arg) rs748659615
NM_000066.4(C8B):c.493G>T (p.Glu165Ter)
NM_000066.4(C8B):c.498G>A (p.Met166Ile)
NM_000066.4(C8B):c.504A>C (p.Gln168His)
NM_000066.4(C8B):c.505T>C (p.Tyr169His)
NM_000066.4(C8B):c.507C>T (p.Tyr169=)
NM_000066.4(C8B):c.521G>A (p.Ser174Asn)
NM_000066.4(C8B):c.533+11A>T rs530428491
NM_000066.4(C8B):c.534-16T>C
NM_000066.4(C8B):c.534-17C>T
NM_000066.4(C8B):c.534-2A>G
NM_000066.4(C8B):c.534-4A>G
NM_000066.4(C8B):c.534-5C>T
NM_000066.4(C8B):c.53del (p.Leu18fs) rs1645249331
NM_000066.4(C8B):c.540T>C (p.Asn180=)
NM_000066.4(C8B):c.549A>C (p.Thr183=)
NM_000066.4(C8B):c.549A>G (p.Thr183=)
NM_000066.4(C8B):c.550_553del (p.Asn184fs) rs1464732473
NM_000066.4(C8B):c.552C>T (p.Asn184=) rs769039585
NM_000066.4(C8B):c.555T>C (p.Ser185=)
NM_000066.4(C8B):c.581G>A (p.Arg194Lys) rs866480176
NM_000066.4(C8B):c.588T>C (p.Tyr196=) rs2101434705
NM_000066.4(C8B):c.61G>A (p.Ala21Thr)
NM_000066.4(C8B):c.61G>T (p.Ala21Ser) rs1233092970
NM_000066.4(C8B):c.623C>T (p.Thr208Met)
NM_000066.4(C8B):c.659C>A (p.Thr220Lys) rs374321085
NM_000066.4(C8B):c.659C>T (p.Thr220Met) rs374321085
NM_000066.4(C8B):c.661C>T (p.Pro221Ser)
NM_000066.4(C8B):c.666+15G>C rs1357045534
NM_000066.4(C8B):c.666+9C>A
NM_000066.4(C8B):c.667del (p.Thr223fs)
NM_000066.4(C8B):c.669C>A (p.Thr223=) rs2101424133
NM_000066.4(C8B):c.66G>C (p.Leu22=)
NM_000066.4(C8B):c.675C>A (p.Gly225=)
NM_000066.4(C8B):c.69C>A (p.Gly23=)
NM_000066.4(C8B):c.71G>A (p.Cys24Tyr)
NM_000066.4(C8B):c.71_74del (p.Cys24fs)
NM_000066.4(C8B):c.726C>T (p.Arg242=)
NM_000066.4(C8B):c.729T>C (p.Asn243=)
NM_000066.4(C8B):c.72T>C (p.Cys24=) rs1431410078
NM_000066.4(C8B):c.742del (p.Met248fs)
NM_000066.4(C8B):c.745G>A (p.Ala249Thr)
NM_000066.4(C8B):c.770G>A (p.Gly257Asp)
NM_000066.4(C8B):c.777A>G (p.Lys259=)
NM_000066.4(C8B):c.793G>T (p.Glu265Ter) rs1175509707
NM_000066.4(C8B):c.798T>C (p.Leu266=)
NM_000066.4(C8B):c.800G>A (p.Gly267Asp) rs770553711
NM_000066.4(C8B):c.801C>T (p.Gly267=)
NM_000066.4(C8B):c.81G>T (p.Leu27Phe)
NM_000066.4(C8B):c.829C>G (p.His277Asp) rs147387692
NM_000066.4(C8B):c.829C>T (p.His277Tyr) rs147387692
NM_000066.4(C8B):c.833A>G (p.Tyr278Cys)
NM_000066.4(C8B):c.838A>C (p.Arg280=)
NM_000066.4(C8B):c.846C>A (p.Thr282=)
NM_000066.4(C8B):c.850C>T (p.Arg284Ter)
NM_000066.4(C8B):c.860A>G (p.His287Arg)
NM_000066.4(C8B):c.864+14T>C
NM_000066.4(C8B):c.864+15G>A
NM_000066.4(C8B):c.864+15G>T
NM_000066.4(C8B):c.864+15_864+16del
NM_000066.4(C8B):c.864+5G>A
NM_000066.4(C8B):c.865-16T>C
NM_000066.4(C8B):c.865-1G>C
NM_000066.4(C8B):c.865-5T>C
NM_000066.4(C8B):c.869G>A (p.Ser290Asn)
NM_000066.4(C8B):c.870C>G (p.Ser290Arg)
NM_000066.4(C8B):c.870C>T (p.Ser290=)
NM_000066.4(C8B):c.871G>A (p.Val291Ile)
NM_000066.4(C8B):c.881A>G (p.His294Arg) rs2101409170
NM_000066.4(C8B):c.886C>T (p.Arg296Cys)
NM_000066.4(C8B):c.891T>A (p.Ser297=)
NM_000066.4(C8B):c.894C>T (p.Asp298=)
NM_000066.4(C8B):c.895C>T (p.Leu299Phe)
NM_000066.4(C8B):c.906A>C (p.Ala302=)
NM_000066.4(C8B):c.906A>G (p.Ala302=)
NM_000066.4(C8B):c.910T>C (p.Tyr304His)
NM_000066.4(C8B):c.915G>T (p.Lys305Asn)
NM_000066.4(C8B):c.92+12T>C
NM_000066.4(C8B):c.92+2T>A rs2101487641
NM_000066.4(C8B):c.934A>G (p.Met312Val)
NM_000066.4(C8B):c.934dup (p.Met312fs) rs2101408848
NM_000066.4(C8B):c.935dup (p.Met312fs)
NM_000066.4(C8B):c.945C>T (p.Tyr315=)
NM_000066.4(C8B):c.946G>A (p.Glu316Lys) rs201686818
NM_000066.4(C8B):c.964A>C (p.Lys322Gln)
NM_000066.4(C8B):c.993G>C (p.Gly331=)

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