ClinVar Miner

List of variants reported as uncertain significance for centronuclear myopathy by Invitae

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 648
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HGVS dbSNP gnomAD frequency
NM_139343.3(BIN1):c.715G>A (p.Val239Ile) rs146573197 0.00036
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys) rs143820618 0.00034
NM_001378030.1(CCDC78):c.863G>A (p.Arg288His) rs200154277 0.00026
NM_139343.3(BIN1):c.961G>A (p.Gly321Arg) rs557276019 0.00021
NM_002469.3(MYF6):c.184G>A (p.Val62Ile) rs190471225 0.00019
NM_001378030.1(CCDC78):c.1054-3T>C rs371542042 0.00016
NM_001378030.1(CCDC78):c.268-3C>T rs371386354 0.00016
NM_002469.3(MYF6):c.288A>T (p.Lys96Asn) rs377370090 0.00016
NM_139343.3(BIN1):c.1138G>A (p.Ala380Thr) rs200887814 0.00016
NM_139343.3(BIN1):c.1480G>A (p.Val494Met) rs144459969 0.00016
NM_001378030.1(CCDC78):c.1103G>A (p.Gly368Glu) rs145971446 0.00015
NM_001378030.1(CCDC78):c.436G>T (p.Val146Leu) rs148705181 0.00015
NM_139343.3(BIN1):c.1006C>T (p.Arg336Trp) rs76037557 0.00014
NM_001378030.1(CCDC78):c.109G>A (p.Ala37Thr) rs144624081 0.00011
NM_001378030.1(CCDC78):c.425A>G (p.His142Arg) rs147899031 0.00011
NM_001378030.1(CCDC78):c.811C>T (p.Arg271Trp) rs200865845 0.00011
NM_002469.3(MYF6):c.575A>C (p.Asp192Ala) rs146824657 0.00011
NM_139343.3(BIN1):c.925G>A (p.Glu309Lys) rs374565677 0.00011
NM_001378030.1(CCDC78):c.468T>G (p.Asn156Lys) rs370998388 0.00010
NM_139343.3(BIN1):c.857+4C>T rs61748156 0.00010
NM_001378030.1(CCDC78):c.1214G>A (p.Arg405Gln) rs771507948 0.00009
NM_139343.3(BIN1):c.1226C>T (p.Thr409Met) rs754678339 0.00009
NM_139343.3(BIN1):c.805G>A (p.Gly269Ser) rs372072916 0.00009
NM_001378030.1(CCDC78):c.104G>A (p.Gly35Asp) rs929692414 0.00008
NM_001378030.1(CCDC78):c.1241C>A (p.Ala414Asp) rs369081589 0.00008
NM_001378030.1(CCDC78):c.389G>A (p.Arg130Lys) rs375016420 0.00007
NM_002469.3(MYF6):c.683C>T (p.Ser228Leu) rs201098963 0.00007
NM_139343.3(BIN1):c.1181A>G (p.Asp394Gly) rs375322787 0.00007
NM_139343.3(BIN1):c.1358C>T (p.Pro453Leu) rs753599819 0.00007
NM_000252.3(MTM1):c.481G>A (p.Val161Met) rs782744530 0.00006
NM_001378030.1(CCDC78):c.432C>G (p.Phe144Leu) rs144640928 0.00006
NM_001378030.1(CCDC78):c.554C>T (p.Thr185Met) rs142129985 0.00006
NM_001378030.1(CCDC78):c.620G>A (p.Arg207Gln) rs368147684 0.00006
NM_139343.3(BIN1):c.1196C>T (p.Pro399Leu) rs558530329 0.00006
NM_139343.3(BIN1):c.1205C>T (p.Thr402Met) rs747660857 0.00006
NM_139343.3(BIN1):c.1439C>T (p.Thr480Met) rs780918654 0.00006
NM_139343.3(BIN1):c.1462-3C>T rs200384643 0.00006
NM_139343.3(BIN1):c.791A>G (p.Asn264Ser) rs766319258 0.00006
NM_001378030.1(CCDC78):c.683A>C (p.Glu228Ala) rs749951287 0.00005
NM_001378030.1(CCDC78):c.711G>C (p.Lys237Asn) rs143439721 0.00005
NM_001378030.1(CCDC78):c.730G>A (p.Val244Ile) rs752077571 0.00005
NM_139343.3(BIN1):c.1442C>T (p.Ala481Val) rs140410496 0.00005
NM_139343.3(BIN1):c.1525G>A (p.Gly509Ser) rs745758782 0.00005
NM_139343.3(BIN1):c.1741C>T (p.Arg581Cys) rs147655157 0.00005
NM_139343.3(BIN1):c.52G>A (p.Val18Met) rs566597765 0.00005
NM_001378030.1(CCDC78):c.1057G>A (p.Gly353Ser) rs754906673 0.00004
NM_001378030.1(CCDC78):c.1177C>T (p.Arg393Trp) rs767496331 0.00004
NM_001378030.1(CCDC78):c.1233G>A (p.Leu411=) rs893572894 0.00004
NM_001378030.1(CCDC78):c.1281C>T (p.Tyr427=) rs142180051 0.00004
NM_001378030.1(CCDC78):c.368G>A (p.Arg123Gln) rs201924732 0.00004
NM_001378030.1(CCDC78):c.557G>A (p.Arg186His) rs762337009 0.00004
NM_001378030.1(CCDC78):c.751G>A (p.Ala251Thr) rs371030168 0.00004
NM_001378030.1(CCDC78):c.845G>A (p.Arg282Gln) rs201634385 0.00004
NM_001378030.1(CCDC78):c.862C>T (p.Arg288Cys) rs764179609 0.00004
NM_002469.3(MYF6):c.220C>T (p.Pro74Ser) rs996997577 0.00004
NM_139343.3(BIN1):c.1371+1G>T rs556129959 0.00004
NM_139343.3(BIN1):c.1394C>T (p.Ala465Val) rs751051376 0.00004
NM_139343.3(BIN1):c.1461C>T (p.Ser487=) rs34647988 0.00004
NM_139343.3(BIN1):c.1588G>A (p.Asp530Asn) rs772786604 0.00004
NM_139343.3(BIN1):c.1674+3G>T rs1420732725 0.00004
NM_139343.3(BIN1):c.839C>T (p.Thr280Met) rs201872255 0.00004
NM_139343.3(BIN1):c.866C>T (p.Ala289Val) rs771112840 0.00004
NM_139343.3(BIN1):c.968C>T (p.Thr323Met) rs763810794 0.00004
NM_001378030.1(CCDC78):c.1230G>A (p.Leu410=) rs768794447 0.00003
NM_001378030.1(CCDC78):c.1248G>A (p.Met416Ile) rs1045075829 0.00003
NM_001378030.1(CCDC78):c.165G>T (p.Lys55Asn) rs371931071 0.00003
NM_001378030.1(CCDC78):c.341C>T (p.Pro114Leu) rs749051279 0.00003
NM_001378030.1(CCDC78):c.364C>T (p.Pro122Ser) rs756781117 0.00003
NM_001378030.1(CCDC78):c.367C>T (p.Arg123Trp) rs144406163 0.00003
NM_001378030.1(CCDC78):c.502G>A (p.Glu168Lys) rs777794522 0.00003
NM_001378030.1(CCDC78):c.70C>T (p.Arg24Ter) rs887921636 0.00003
NM_001378030.1(CCDC78):c.880C>T (p.Arg294Trp) rs772096201 0.00003
NM_001378030.1(CCDC78):c.884C>A (p.Ala295Asp) rs1418782154 0.00003
NM_001378030.1(CCDC78):c.890G>A (p.Arg297His) rs768251031 0.00003
NM_139343.3(BIN1):c.1142C>T (p.Pro381Leu) rs794727107 0.00003
NM_139343.3(BIN1):c.1154C>T (p.Ser385Leu) rs368616652 0.00003
NM_139343.3(BIN1):c.1282G>A (p.Gly428Ser) rs200124094 0.00003
NM_139343.3(BIN1):c.1328C>G (p.Ala443Gly) rs758494519 0.00003
NM_139343.3(BIN1):c.1460C>G (p.Ser487Cys) rs1342661066 0.00003
NM_139343.3(BIN1):c.1710C>G (p.Asp570Glu) rs587783342 0.00003
NM_139343.3(BIN1):c.286G>A (p.Gly96Ser) rs769724273 0.00003
NM_139343.3(BIN1):c.544G>A (p.Ala182Thr) rs779607755 0.00003
NM_139343.3(BIN1):c.823G>A (p.Gly275Arg) rs771506242 0.00003
NM_139343.3(BIN1):c.920C>G (p.Thr307Ser) rs199551366 0.00003
NM_000252.3(MTM1):c.1724A>G (p.Gln575Arg) rs1347335331 0.00002
NM_000252.3(MTM1):c.175A>G (p.Ile59Val) rs782451760 0.00002
NM_000252.3(MTM1):c.206G>A (p.Arg69His) rs782277980 0.00002
NM_000252.3(MTM1):c.233A>T (p.Asp78Val) rs782215492 0.00002
NM_000252.3(MTM1):c.278T>C (p.Ile93Thr) rs199821243 0.00002
NM_001378030.1(CCDC78):c.1059C>T (p.Gly353=) rs773310049 0.00002
NM_001378030.1(CCDC78):c.1133+16G>T rs778741526 0.00002
NM_001378030.1(CCDC78):c.1196C>T (p.Thr399Ile) rs775067488 0.00002
NM_001378030.1(CCDC78):c.1278G>A (p.Glu426=) rs773837439 0.00002
NM_001378030.1(CCDC78):c.155C>T (p.Ala52Val) rs1432121366 0.00002
NM_001378030.1(CCDC78):c.29G>A (p.Arg10Lys) rs893873268 0.00002
NM_001378030.1(CCDC78):c.365C>T (p.Pro122Leu) rs745392382 0.00002
NM_001378030.1(CCDC78):c.535C>T (p.Arg179Trp) rs758399024 0.00002
NM_001378030.1(CCDC78):c.574C>T (p.Arg192Trp) rs754019798 0.00002
NM_001378030.1(CCDC78):c.593G>A (p.Arg198Gln) rs763959604 0.00002
NM_001378030.1(CCDC78):c.61-1G>A rs1006891646 0.00002
NM_001378030.1(CCDC78):c.613G>A (p.Gly205Arg) rs759028646 0.00002
NM_001378030.1(CCDC78):c.61G>A (p.Val21Ile) rs757617074 0.00002
NM_001378030.1(CCDC78):c.721G>A (p.Asp241Asn) rs370899425 0.00002
NM_001378030.1(CCDC78):c.842T>A (p.Ile281Asn) rs1037631909 0.00002
NM_001378030.1(CCDC78):c.857G>A (p.Arg286His) rs750889592 0.00002
NM_001378030.1(CCDC78):c.874del (p.Leu292fs) rs746756519 0.00002
NM_001378030.1(CCDC78):c.931G>T (p.Glu311Ter) rs2040614414 0.00002
NM_002469.3(MYF6):c.281G>A (p.Arg94Gln) rs201273759 0.00002
NM_002469.3(MYF6):c.331G>C (p.Glu111Gln) rs773695133 0.00002
NM_002469.3(MYF6):c.623T>C (p.Ile208Thr) rs766941896 0.00002
NM_139343.3(BIN1):c.1265C>T (p.Pro422Leu) rs760559539 0.00002
NM_139343.3(BIN1):c.1412C>T (p.Ala471Val) rs746346952 0.00002
NM_139343.3(BIN1):c.1534G>A (p.Ala512Thr) rs756816560 0.00002
NM_139343.3(BIN1):c.1541G>A (p.Arg514His) rs766615886 0.00002
NM_139343.3(BIN1):c.1607C>A (p.Thr536Lys) rs773732601 0.00002
NM_139343.3(BIN1):c.1729C>G (p.Leu577Val) rs771368114 0.00002
NM_139343.3(BIN1):c.1756G>A (p.Glu586Lys) rs1042277527 0.00002
NM_139343.3(BIN1):c.277G>T (p.Asp93Tyr) rs774273606 0.00002
NM_139343.3(BIN1):c.393C>T (p.Gly131=) rs1455926606 0.00002
NM_139343.3(BIN1):c.661G>A (p.Val221Met) rs573529529 0.00002
NM_139343.3(BIN1):c.775-3C>T rs373768625 0.00002
NM_000252.3(MTM1):c.1300C>T (p.Arg434Cys) rs782664128 0.00001
NM_000252.3(MTM1):c.1457G>A (p.Arg486Gln) rs782032230 0.00001
NM_000252.3(MTM1):c.1561G>A (p.Val521Ile) rs782705509 0.00001
NM_000252.3(MTM1):c.1709G>A (p.Arg570Gln) rs782469735 0.00001
NM_000252.3(MTM1):c.646G>A (p.Val216Ile) rs782156492 0.00001
NM_000252.3(MTM1):c.65C>T (p.Thr22Met) rs781886721 0.00001
NM_000252.3(MTM1):c.867+4A>T rs1322584849 0.00001
NM_000252.3(MTM1):c.911C>T (p.Ala304Val) rs781871854 0.00001
NM_000252.3(MTM1):c.931A>G (p.Ile311Val) rs782444216 0.00001
NM_000252.3(MTM1):c.953G>A (p.Arg318Gln) rs782462553 0.00001
NM_001378030.1(CCDC78):c.1039C>T (p.His347Tyr) rs369908634 0.00001
NM_001378030.1(CCDC78):c.1052A>G (p.Gln351Arg) rs371921917 0.00001
NM_001378030.1(CCDC78):c.1054-9C>G rs781457535 0.00001
NM_001378030.1(CCDC78):c.1060G>A (p.Gly354Arg) rs199867890 0.00001
NM_001378030.1(CCDC78):c.1112del (p.Gln371fs) rs765483630 0.00001
NM_001378030.1(CCDC78):c.1124C>G (p.Ser375Ter) rs1475409165 0.00001
NM_001378030.1(CCDC78):c.1136G>A (p.Gly379Asp) rs1296158476 0.00001
NM_001378030.1(CCDC78):c.1178G>A (p.Arg393Gln) rs376513788 0.00001
NM_001378030.1(CCDC78):c.1247T>C (p.Met416Thr) rs1180613590 0.00001
NM_001378030.1(CCDC78):c.1299C>A (p.Gly433=) rs1482540009 0.00001
NM_001378030.1(CCDC78):c.1302-1G>C rs764699064 0.00001
NM_001378030.1(CCDC78):c.151C>G (p.Leu51Val) rs1064794620 0.00001
NM_001378030.1(CCDC78):c.169C>A (p.Gln57Lys) rs1180264424 0.00001
NM_001378030.1(CCDC78):c.1A>G (p.Met1Val) rs768740042 0.00001
NM_001378030.1(CCDC78):c.211A>G (p.Thr71Ala) rs750616701 0.00001
NM_001378030.1(CCDC78):c.217C>T (p.His73Tyr) rs1477528084 0.00001
NM_001378030.1(CCDC78):c.238G>A (p.Glu80Lys) rs549450998 0.00001
NM_001378030.1(CCDC78):c.247A>G (p.Ile83Val) rs558878970 0.00001
NM_001378030.1(CCDC78):c.256C>G (p.Leu86Val) rs748438652 0.00001
NM_001378030.1(CCDC78):c.267+3G>A rs749827376 0.00001
NM_001378030.1(CCDC78):c.286C>T (p.Arg96Trp) rs767068294 0.00001
NM_001378030.1(CCDC78):c.307C>T (p.Arg103Ter) rs776512977 0.00001
NM_001378030.1(CCDC78):c.327G>C (p.Gln109His) rs1246634377 0.00001
NM_001378030.1(CCDC78):c.328G>T (p.Gly110Cys) rs777956994 0.00001
NM_001378030.1(CCDC78):c.344T>C (p.Val115Ala) rs779855089 0.00001
NM_001378030.1(CCDC78):c.34G>T (p.Gly12Ter) rs1014643433 0.00001
NM_001378030.1(CCDC78):c.40C>T (p.Pro14Ser) rs2040942356 0.00001
NM_001378030.1(CCDC78):c.433C>T (p.Gln145Ter) rs745710346 0.00001
NM_001378030.1(CCDC78):c.435+13A>G rs966308561 0.00001
NM_001378030.1(CCDC78):c.435+7A>G rs751070375 0.00001
NM_001378030.1(CCDC78):c.436-2A>G rs778608633 0.00001
NM_001378030.1(CCDC78):c.492+6T>C rs1283039950 0.00001
NM_001378030.1(CCDC78):c.509A>T (p.Lys170Met) rs1555486210 0.00001
NM_001378030.1(CCDC78):c.536G>A (p.Arg179Gln) rs560987339 0.00001
NM_001378030.1(CCDC78):c.628A>T (p.Thr210Ser) rs375138705 0.00001
NM_001378030.1(CCDC78):c.658G>A (p.Gly220Ser) rs1374522692 0.00001
NM_001378030.1(CCDC78):c.707T>C (p.Leu236Pro) rs1352546137 0.00001
NM_001378030.1(CCDC78):c.736C>G (p.Arg246Gly) rs749095737 0.00001
NM_001378030.1(CCDC78):c.760G>A (p.Ala254Thr) rs1338935088 0.00001
NM_001378030.1(CCDC78):c.763G>A (p.Val255Met) rs763349441 0.00001
NM_001378030.1(CCDC78):c.763_765+5del rs1406110108 0.00001
NM_001378030.1(CCDC78):c.767A>G (p.Glu256Gly) rs1374510953 0.00001
NM_001378030.1(CCDC78):c.772G>A (p.Ala258Thr) rs778696812 0.00001
NM_001378030.1(CCDC78):c.844C>T (p.Arg282Trp) rs747752625 0.00001
NM_001378030.1(CCDC78):c.851C>T (p.Ala284Val) rs749614530 0.00001
NM_001378030.1(CCDC78):c.886G>A (p.Ala296Thr) rs1395442564 0.00001
NM_001378030.1(CCDC78):c.910G>C (p.Val304Leu) rs1014754418 0.00001
NM_001378030.1(CCDC78):c.923G>A (p.Arg308His) rs151049173 0.00001
NM_001378030.1(CCDC78):c.930T>G (p.His310Gln) rs750273057 0.00001
NM_001378030.1(CCDC78):c.934G>A (p.Glu312Lys) rs767319981 0.00001
NM_002469.3(MYF6):c.17T>G (p.Phe6Cys) rs1346404270 0.00001
NM_002469.3(MYF6):c.193C>T (p.Pro65Ser) rs1187510400 0.00001
NM_002469.3(MYF6):c.46G>A (p.Asp16Asn) rs749523828 0.00001
NM_002469.3(MYF6):c.520-3C>T rs1035326012 0.00001
NM_002469.3(MYF6):c.649C>T (p.Arg217Ter) rs779208935 0.00001
NM_002469.3(MYF6):c.91T>C (p.Ser31Pro) rs1443837642 0.00001
NM_139343.3(BIN1):c.1046C>T (p.Pro349Leu) rs775494528 0.00001
NM_139343.3(BIN1):c.1072A>G (p.Ile358Val) rs1355424178 0.00001
NM_139343.3(BIN1):c.1075C>T (p.Leu359Phe) rs965561469 0.00001
NM_139343.3(BIN1):c.1094C>T (p.Thr365Met) rs577812854 0.00001
NM_139343.3(BIN1):c.1114G>A (p.Val372Met) rs749198133 0.00001
NM_139343.3(BIN1):c.1156G>A (p.Glu386Lys) rs1268978517 0.00001
NM_139343.3(BIN1):c.1198C>A (p.Pro400Thr) rs769252326 0.00001
NM_139343.3(BIN1):c.1240T>G (p.Ser414Ala) rs777951748 0.00001
NM_139343.3(BIN1):c.1403C>T (p.Thr468Ile) rs769199881 0.00001
NM_139343.3(BIN1):c.1461+1G>A rs764951306 0.00001
NM_139343.3(BIN1):c.1461+6A>T rs972060066 0.00001
NM_139343.3(BIN1):c.1516G>A (p.Val506Met) rs371571307 0.00001
NM_139343.3(BIN1):c.1537G>A (p.Gly513Arg) rs777452575 0.00001
NM_139343.3(BIN1):c.1538G>A (p.Gly513Glu) rs755351031 0.00001
NM_139343.3(BIN1):c.1545G>T (p.Leu515Phe) rs763458588 0.00001
NM_139343.3(BIN1):c.1558G>C (p.Gly520Arg) rs765354438 0.00001
NM_139343.3(BIN1):c.155A>G (p.Asn52Ser) rs369549551 0.00001
NM_139343.3(BIN1):c.165+6T>C rs763931802 0.00001
NM_139343.3(BIN1):c.1670A>T (p.Glu557Val) rs774321875 0.00001
NM_139343.3(BIN1):c.1691T>C (p.Met564Thr) rs1682474004 0.00001
NM_139343.3(BIN1):c.1696G>A (p.Val566Met) rs761759946 0.00001
NM_139343.3(BIN1):c.1747G>A (p.Val583Ile) rs759691190 0.00001
NM_139343.3(BIN1):c.1751T>C (p.Phe584Ser) rs1466748456 0.00001
NM_139343.3(BIN1):c.322G>A (p.Asp108Asn) rs532260569 0.00001
NM_139343.3(BIN1):c.416G>A (p.Arg139His) rs755355125 0.00001
NM_139343.3(BIN1):c.434G>A (p.Arg145His) rs1219115067 0.00001
NM_139343.3(BIN1):c.472G>A (p.Glu158Lys) rs764377144 0.00001
NM_139343.3(BIN1):c.519+4A>G rs1429919147 0.00001
NM_139343.3(BIN1):c.520-3C>A rs1455432609 0.00001
NM_139343.3(BIN1):c.527C>T (p.Ser176Leu) rs776075897 0.00001
NM_139343.3(BIN1):c.550C>G (p.Gln184Glu) rs777940512 0.00001
NM_139343.3(BIN1):c.57G>C (p.Gln19His) rs142657993 0.00001
NM_139343.3(BIN1):c.604C>T (p.Arg202Ter) rs762897872 0.00001
NM_139343.3(BIN1):c.730A>G (p.Ser244Gly) rs777898974 0.00001
NM_139343.3(BIN1):c.767T>C (p.Met256Thr) rs975404965 0.00001
NM_139343.3(BIN1):c.784A>C (p.Asn262His) rs1331854784 0.00001
NM_139343.3(BIN1):c.84+1G>A rs1364583460 0.00001
NM_139343.3(BIN1):c.85-5G>A rs371593265 0.00001
NM_139343.3(BIN1):c.887G>A (p.Ser296Asn) rs1490772170 0.00001
NM_139343.3(BIN1):c.889C>A (p.Pro297Thr) rs1160778854 0.00001
NM_139343.3(BIN1):c.893C>T (p.Ser298Leu) rs754707833 0.00001
NM_139343.3(BIN1):c.946C>T (p.Pro316Ser) rs748381039 0.00001
NM_139343.3(BIN1):c.952C>T (p.Pro318Ser) rs781377841 0.00001
NM_139343.3(BIN1):c.967A>T (p.Thr323Ser) rs753614814 0.00001
NC_000002.11:g.(?_127804599)_(127865903_?)del
NC_000002.11:g.(?_127806092)_(127834292_?)dup
NC_000002.11:g.(?_127806102)_(127864519_?)dup
NC_000002.11:g.(?_127806102)_(128432598_?)del
NC_000002.11:g.(?_127815029)_(127864539_?)dup
NC_000002.11:g.(?_127821127)_(127834302_?)dup
NC_000002.11:g.(?_127825719)_(127828412_?)dup
NC_000002.11:g.(?_127834182)_(127864519_?)dup
NC_000002.11:g.(?_127864416)_(127864519_?)dup
NC_000002.12:g.(?_127106850)_(127106953_?)dup
NC_000012.11:g.(?_80128594)_(81102759_?)del
NC_000016.10:g.(?_722760)_(726377_?)dup
NC_000016.9:g.(?_772770)_(776367_?)dup
NC_000023.10:g.(?_149613783)_(149840068_?)dup
NC_000023.10:g.(?_149761067)_(150573540_?)dup
NC_000023.10:g.(?_149761077)_(149787632_?)dup
NC_000023.10:g.(?_149783052)_(149840078_?)dup
NC_000023.10:g.(?_149807406)_(149814354_?)dup
NC_000023.10:g.(?_149839891)_(149840078_?)del
NM_000252.2(MTM1):c.1169T>A (p.Met390Lys) rs727504019
NM_000252.3(MTM1):c.1049T>C (p.Ile350Thr)
NM_000252.3(MTM1):c.1084G>C (p.Asp362His) rs2148508579
NM_000252.3(MTM1):c.1107T>A (p.Ser369Arg) rs2148508637
NM_000252.3(MTM1):c.1184G>A (p.Ser395Asn) rs2040151430
NM_000252.3(MTM1):c.1260+5G>A rs587783769
NM_000252.3(MTM1):c.1340A>G (p.Gln447Arg)
NM_000252.3(MTM1):c.1353+4A>C
NM_000252.3(MTM1):c.136+5G>A
NM_000252.3(MTM1):c.1367T>C (p.Phe456Ser) rs587783783
NM_000252.3(MTM1):c.1369G>A (p.Glu457Lys) rs398123269
NM_000252.3(MTM1):c.137-7T>G rs587783784
NM_000252.3(MTM1):c.1389G>T (p.Leu463Phe)
NM_000252.3(MTM1):c.1406A>C (p.His469Pro) rs587783789
NM_000252.3(MTM1):c.1406A>G (p.His469Arg) rs587783789
NM_000252.3(MTM1):c.1423T>C (p.Phe475Leu)
NM_000252.3(MTM1):c.1429A>G (p.Thr477Ala) rs2040200948
NM_000252.3(MTM1):c.1469A>G (p.Lys490Arg) rs781948606
NM_000252.3(MTM1):c.1475C>T (p.Thr492Ile)
NM_000252.3(MTM1):c.1525T>C (p.Phe509Leu) rs2040257723
NM_000252.3(MTM1):c.1529A>G (p.Lys510Arg) rs2148515610
NM_000252.3(MTM1):c.1533C>A (p.Asn511Lys) rs1569565536
NM_000252.3(MTM1):c.1546A>G (p.Lys516Glu) rs868972342
NM_000252.3(MTM1):c.156A>G (p.Ile52Met)
NM_000252.3(MTM1):c.1573G>T (p.Val525Phe)
NM_000252.3(MTM1):c.1604T>A (p.Val535Glu) rs2148515723
NM_000252.3(MTM1):c.1627C>A (p.Pro543Thr)
NM_000252.3(MTM1):c.1627C>T (p.Pro543Ser)
NM_000252.3(MTM1):c.1649C>T (p.Pro550Leu)
NM_000252.3(MTM1):c.1666C>T (p.Arg556Cys) rs1603214706
NM_000252.3(MTM1):c.1667G>A (p.Arg556His) rs372735301
NM_000252.3(MTM1):c.1673T>C (p.Met558Thr)
NM_000252.3(MTM1):c.1724A>C (p.Gln575Pro) rs1347335331
NM_000252.3(MTM1):c.1733A>C (p.Asn578Thr)
NM_000252.3(MTM1):c.1748C>T (p.Ser583Phe)
NM_000252.3(MTM1):c.1753C>G (p.Pro585Ala) rs1195705222
NM_000252.3(MTM1):c.1759A>G (p.Thr587Ala)
NM_000252.3(MTM1):c.1778C>T (p.Ser593Leu)
NM_000252.3(MTM1):c.232G>C (p.Asp78His)
NM_000252.3(MTM1):c.271_272delinsAT (p.Ser91Met)
NM_000252.3(MTM1):c.295G>A (p.Ala99Thr)
NM_000252.3(MTM1):c.301A>G (p.Ser101Gly) rs587783818
NM_000252.3(MTM1):c.32C>T (p.Ser11Leu)
NM_000252.3(MTM1):c.335C>G (p.Thr112Ser)
NM_000252.3(MTM1):c.359G>A (p.Arg120Lys)
NM_000252.3(MTM1):c.397A>G (p.Met133Val) rs2039434563
NM_000252.3(MTM1):c.410T>C (p.Leu137Pro) rs2148461766
NM_000252.3(MTM1):c.421G>C (p.Ala141Pro) rs1557413215
NM_000252.3(MTM1):c.439A>G (p.Ser147Gly) rs964287315
NM_000252.3(MTM1):c.463A>T (p.Asn155Tyr)
NM_000252.3(MTM1):c.520A>G (p.Arg174Gly)
NM_000252.3(MTM1):c.530G>T (p.Gly177Val) rs1603187659
NM_000252.3(MTM1):c.535C>A (p.Pro179Thr) rs587783832
NM_000252.3(MTM1):c.543C>G (p.His181Gln) rs1603187692
NM_000252.3(MTM1):c.544C>T (p.His182Tyr) rs2148488398
NM_000252.3(MTM1):c.553A>T (p.Ile185Leu) rs2148488427
NM_000252.3(MTM1):c.560T>C (p.Phe187Ser)
NM_000252.3(MTM1):c.562A>C (p.Ile188Leu)
NM_000252.3(MTM1):c.5C>T (p.Ala2Val) rs1603118990
NM_000252.3(MTM1):c.629A>G (p.Asp210Gly) rs587783842
NM_000252.3(MTM1):c.629A>T (p.Asp210Val)
NM_000252.3(MTM1):c.62G>A (p.Arg21Lys) rs2148425592
NM_000252.3(MTM1):c.640C>T (p.Arg214Trp)
NM_000252.3(MTM1):c.641G>A (p.Arg214Gln)
NM_000252.3(MTM1):c.678+5G>A
NM_000252.3(MTM1):c.678+6T>A rs2039847628
NM_000252.3(MTM1):c.678A>G (p.Pro226=)
NM_000252.3(MTM1):c.71G>A (p.Arg24Gln)
NM_000252.3(MTM1):c.727A>G (p.Ser243Gly) rs2148493156
NM_000252.3(MTM1):c.734C>T (p.Pro245Leu) rs1557413958
NM_000252.3(MTM1):c.74A>G (p.Asp25Gly)
NM_000252.3(MTM1):c.76_90del (p.Gly26_Asp30del) rs1603124011
NM_000252.3(MTM1):c.800C>T (p.Thr267Ile)
NM_000252.3(MTM1):c.821T>G (p.Leu274Arg) rs2148493317
NM_000252.3(MTM1):c.83A>G (p.Asn28Ser)
NM_000252.3(MTM1):c.898G>A (p.Ala300Thr) rs2148497733
NM_000252.3(MTM1):c.905A>G (p.His302Arg) rs2148497756
NM_000252.3(MTM1):c.913G>C (p.Glu305Gln) rs587783861
NM_000252.3(MTM1):c.944A>G (p.His315Arg) rs2148497817
NM_000252.3(MTM1):c.946G>A (p.Val316Ile) rs2148497828
NM_000252.3(MTM1):c.952C>T (p.Arg318Trp) rs2039989751
NM_000252.3(MTM1):c.963A>T (p.Leu321Phe)
NM_000252.3(MTM1):c.989C>T (p.Pro330Leu) rs2148497898
NM_001378030.1(CCDC78):c.1003G>C (p.Glu335Gln)
NM_001378030.1(CCDC78):c.1012C>A (p.Pro338Thr) rs951170993
NM_001378030.1(CCDC78):c.1015G>T (p.Val339Leu) rs759037918
NM_001378030.1(CCDC78):c.101G>A (p.Gly34Glu) rs2040894714
NM_001378030.1(CCDC78):c.1033T>C (p.Phe345Leu) rs2040580658
NM_001378030.1(CCDC78):c.1037G>A (p.Ser346Asn)
NM_001378030.1(CCDC78):c.1042C>T (p.Arg348Trp)
NM_001378030.1(CCDC78):c.1043G>T (p.Arg348Leu) rs142170929
NM_001378030.1(CCDC78):c.1053G>A (p.Gln351=)
NM_001378030.1(CCDC78):c.1066G>A (p.Gly356Arg)
NM_001378030.1(CCDC78):c.1067G>A (p.Gly356Glu) rs1567315670
NM_001378030.1(CCDC78):c.1070C>A (p.Ala357Glu)
NM_001378030.1(CCDC78):c.1070C>T (p.Ala357Val) rs767325446
NM_001378030.1(CCDC78):c.1075C>G (p.Leu359Val)
NM_001378030.1(CCDC78):c.107C>G (p.Thr36Ser) rs2040893951
NM_001378030.1(CCDC78):c.1081T>C (p.Ser361Pro)
NM_001378030.1(CCDC78):c.1099G>A (p.Gly367Ser) rs1021626011
NM_001378030.1(CCDC78):c.1114G>A (p.Gly372Arg) rs780209156
NM_001378030.1(CCDC78):c.1114G>C (p.Gly372Arg) rs780209156
NM_001378030.1(CCDC78):c.1133+3G>C
NM_001378030.1(CCDC78):c.1133+5G>C rs751889492
NM_001378030.1(CCDC78):c.1144G>A (p.Ala382Thr)
NM_001378030.1(CCDC78):c.1174C>T (p.Leu392Phe)
NM_001378030.1(CCDC78):c.1178G>C (p.Arg393Pro) rs376513788
NM_001378030.1(CCDC78):c.1180G>A (p.Asp394Asn)
NM_001378030.1(CCDC78):c.1181A>G (p.Asp394Gly)
NM_001378030.1(CCDC78):c.1187C>G (p.Ser396Cys)
NM_001378030.1(CCDC78):c.1190G>C (p.Arg397Pro)
NM_001378030.1(CCDC78):c.1200+14_1200+18del
NM_001378030.1(CCDC78):c.1277A>C (p.Glu426Ala) rs761180576
NM_001378030.1(CCDC78):c.1287C>T (p.Asp429=) rs1403494570
NM_001378030.1(CCDC78):c.1292A>G (p.His431Arg)
NM_001378030.1(CCDC78):c.1298G>A (p.Gly433Asp)
NM_001378030.1(CCDC78):c.1307A>G (p.Lys436Arg)
NM_001378030.1(CCDC78):c.1308G>A (p.Lys436=)
NM_001378030.1(CCDC78):c.1311C>G (p.His437Gln)
NM_001378030.1(CCDC78):c.1311C>T (p.His437=) rs775569629
NM_001378030.1(CCDC78):c.139G>A (p.Val47Ile) rs892740041
NM_001378030.1(CCDC78):c.13G>C (p.Ala5Pro)
NM_001378030.1(CCDC78):c.14C>T (p.Ala5Val) rs2151579428
NM_001378030.1(CCDC78):c.15dup (p.Thr6fs) rs1389255956
NM_001378030.1(CCDC78):c.178C>G (p.Gln60Glu)
NM_001378030.1(CCDC78):c.180+3G>T rs1483977509
NM_001378030.1(CCDC78):c.191_194dup (p.Val66fs) rs2040863479
NM_001378030.1(CCDC78):c.197T>G (p.Val66Gly)
NM_001378030.1(CCDC78):c.199G>A (p.Asp67Asn) rs374105211
NM_001378030.1(CCDC78):c.20C>T (p.Thr7Ile)
NM_001378030.1(CCDC78):c.220C>T (p.His74Tyr) rs1248260858
NM_001378030.1(CCDC78):c.224T>C (p.Leu75Pro)
NM_001378030.1(CCDC78):c.229G>A (p.Glu77Lys)
NM_001378030.1(CCDC78):c.252C>G (p.Phe84Leu) rs766553371
NM_001378030.1(CCDC78):c.253C>T (p.Gln85Ter)
NM_001378030.1(CCDC78):c.259A>G (p.Lys87Glu)
NM_001378030.1(CCDC78):c.265G>A (p.Glu89Lys)
NM_001378030.1(CCDC78):c.267+1G>A
NM_001378030.1(CCDC78):c.267G>A (p.Glu89=) rs1246932109
NM_001378030.1(CCDC78):c.268-2_272del
NM_001378030.1(CCDC78):c.26C>T (p.Pro9Leu) rs1432188387
NM_001378030.1(CCDC78):c.275G>A (p.Arg92Gln) rs766279961
NM_001378030.1(CCDC78):c.285C>G (p.Ser95Arg)
NM_001378030.1(CCDC78):c.287G>A (p.Arg96Gln)
NM_001378030.1(CCDC78):c.295GAGCTG[3] (p.Leu102_Arg103insGluLeu)
NM_001378030.1(CCDC78):c.310G>T (p.Gly104Ter)
NM_001378030.1(CCDC78):c.325C>T (p.Gln109Ter) rs1042253618
NM_001378030.1(CCDC78):c.328G>A (p.Gly110Ser)
NM_001378030.1(CCDC78):c.329G>A (p.Gly110Asp)
NM_001378030.1(CCDC78):c.329G>T (p.Gly110Val) rs369153172
NM_001378030.1(CCDC78):c.341C>G (p.Pro114Arg) rs749051279
NM_001378030.1(CCDC78):c.356C>A (p.Pro119His) rs750379614
NM_001378030.1(CCDC78):c.356C>G (p.Pro119Arg) rs750379614
NM_001378030.1(CCDC78):c.371C>A (p.Ala124Glu)
NM_001378030.1(CCDC78):c.377C>T (p.Ala126Val)
NM_001378030.1(CCDC78):c.385C>A (p.Leu129Ile)
NM_001378030.1(CCDC78):c.400del (p.Gln134fs) rs758119082
NM_001378030.1(CCDC78):c.402G>A (p.Gln134=)
NM_001378030.1(CCDC78):c.406C>T (p.Pro136Ser)
NM_001378030.1(CCDC78):c.416C>T (p.Ser139Phe) rs374382609
NM_001378030.1(CCDC78):c.426_427del (p.His142fs)
NM_001378030.1(CCDC78):c.439C>T (p.Gln147Ter)
NM_001378030.1(CCDC78):c.463G>A (p.Glu155Lys) rs369344548
NM_001378030.1(CCDC78):c.467A>G (p.Asn156Ser) rs2151564305
NM_001378030.1(CCDC78):c.46C>G (p.Arg16Gly) rs746792512
NM_001378030.1(CCDC78):c.46C>T (p.Arg16Trp) rs746792512
NM_001378030.1(CCDC78):c.477C>G (p.His159Gln)
NM_001378030.1(CCDC78):c.47G>C (p.Arg16Pro) rs117949611
NM_001378030.1(CCDC78):c.488del (p.Ser163fs)
NM_001378030.1(CCDC78):c.493C>T (p.Leu165=) rs1361254201
NM_001378030.1(CCDC78):c.499G>A (p.Gly167Arg) rs2040740740
NM_001378030.1(CCDC78):c.49C>G (p.Arg17Gly)
NM_001378030.1(CCDC78):c.502G>C (p.Glu168Gln) rs777794522
NM_001378030.1(CCDC78):c.508_512del (p.Lys170fs) rs1466789176
NM_001378030.1(CCDC78):c.509A>G (p.Lys170Arg) rs1555486210
NM_001378030.1(CCDC78):c.50G>A (p.Arg17Gln) rs1046402338
NM_001378030.1(CCDC78):c.50G>C (p.Arg17Pro)
NM_001378030.1(CCDC78):c.50G>T (p.Arg17Leu) rs1046402338
NM_001378030.1(CCDC78):c.515C>T (p.Ala172Val)
NM_001378030.1(CCDC78):c.517C>G (p.Leu173Val)
NM_001378030.1(CCDC78):c.545C>T (p.Ala182Val) rs1000549010
NM_001378030.1(CCDC78):c.548_549delinsGA (p.Leu183Arg) rs2151561882
NM_001378030.1(CCDC78):c.553_554delinsTA (p.Thr185Ter)
NM_001378030.1(CCDC78):c.560_560+3del
NM_001378030.1(CCDC78):c.571_582del (p.Gly191_Leu194del) rs1035417733
NM_001378030.1(CCDC78):c.598G>A (p.Glu200Lys) rs1031306587
NM_001378030.1(CCDC78):c.60+2T>C rs1289274795
NM_001378030.1(CCDC78):c.60+3G>A
NM_001378030.1(CCDC78):c.61-13G>A
NM_001378030.1(CCDC78):c.61-16G>A
NM_001378030.1(CCDC78):c.61-2A>G
NM_001378030.1(CCDC78):c.61-6C>A
NM_001378030.1(CCDC78):c.611C>A (p.Ala204Asp) rs2040706093
NM_001378030.1(CCDC78):c.616C>T (p.Gln206Ter)
NM_001378030.1(CCDC78):c.620G>C (p.Arg207Pro)
NM_001378030.1(CCDC78):c.639+4A>G
NM_001378030.1(CCDC78):c.667C>T (p.Arg223Cys)
NM_001378030.1(CCDC78):c.668G>T (p.Arg223Leu)
NM_001378030.1(CCDC78):c.671A>G (p.Gln224Arg)
NM_001378030.1(CCDC78):c.679G>T (p.Ala227Ser)
NM_001378030.1(CCDC78):c.688G>A (p.Ala230Thr)
NM_001378030.1(CCDC78):c.691C>G (p.Arg231Gly) rs527479144
NM_001378030.1(CCDC78):c.691C>T (p.Arg231Trp)
NM_001378030.1(CCDC78):c.692G>T (p.Arg231Leu) rs147504073
NM_001378030.1(CCDC78):c.703_708dup (p.233QL[3]) rs1392358219
NM_001378030.1(CCDC78):c.71G>A (p.Arg24Gln)
NM_001378030.1(CCDC78):c.736C>T (p.Arg246Trp) rs749095737
NM_001378030.1(CCDC78):c.752C>A (p.Ala251Asp)
NM_001378030.1(CCDC78):c.758A>G (p.Gln253Arg) rs1438721597
NM_001378030.1(CCDC78):c.769C>T (p.His257Tyr) rs1160240030
NM_001378030.1(CCDC78):c.771C>G (p.His257Gln) rs747763912
NM_001378030.1(CCDC78):c.778G>A (p.Gly260Ser)
NM_001378030.1(CCDC78):c.782C>G (p.Ala261Gly) rs1328091861
NM_001378030.1(CCDC78):c.791C>T (p.Ala264Val)
NM_001378030.1(CCDC78):c.805del (p.Ala269fs)
NM_001378030.1(CCDC78):c.80A>G (p.Asp27Gly) rs2040895994
NM_001378030.1(CCDC78):c.838G>A (p.Asp280Asn)
NM_001378030.1(CCDC78):c.844C>G (p.Arg282Gly) rs747752625
NM_001378030.1(CCDC78):c.860G>A (p.Ser287Asn)
NM_001378030.1(CCDC78):c.860G>C (p.Ser287Thr) rs1688583528
NM_001378030.1(CCDC78):c.862C>A (p.Arg288Ser)
NM_001378030.1(CCDC78):c.893G>C (p.Ser298Thr) rs770130604
NM_001378030.1(CCDC78):c.897C>A (p.Tyr299Ter) rs1203607617
NM_001378030.1(CCDC78):c.898_900del (p.His300del) rs771582682
NM_001378030.1(CCDC78):c.902A>G (p.Lys301Arg) rs2040618422
NM_001378030.1(CCDC78):c.913G>T (p.Asp305Tyr)
NM_001378030.1(CCDC78):c.922_923delinsGA (p.Arg308Asp)
NM_001378030.1(CCDC78):c.924C>T (p.Arg308=) rs2040615574
NM_001378030.1(CCDC78):c.929A>G (p.His310Arg) rs2040614811
NM_001378030.1(CCDC78):c.947C>T (p.Ala316Val) rs2151553309
NM_001378030.1(CCDC78):c.94G>A (p.Ala32Thr)
NM_001378030.1(CCDC78):c.953+3G>A rs2040612115
NM_001378030.1(CCDC78):c.953+4G>A
NM_001378030.1(CCDC78):c.954G>A (p.Arg318=) rs2040592459
NM_001378030.1(CCDC78):c.955_956delinsAA (p.Ala319Lys) rs2040592043
NM_001378030.1(CCDC78):c.958C>T (p.Pro320Ser)
NM_001378030.1(CCDC78):c.986T>C (p.Ile329Thr)
NM_001378030.1(CCDC78):c.991A>G (p.Ser331Gly)
NM_001378030.1(CCDC78):c.999C>G (p.Asp333Glu) rs1450643801
NM_002469.3(MYF6):c.104C>T (p.Pro35Leu) rs2121343603
NM_002469.3(MYF6):c.145C>G (p.Pro49Ala)
NM_002469.3(MYF6):c.176A>T (p.Glu59Val) rs1332444958
NM_002469.3(MYF6):c.183T>G (p.His61Gln) rs776368255
NM_002469.3(MYF6):c.273dup (p.Thr92fs) rs768710318
NM_002469.3(MYF6):c.280C>T (p.Arg94Trp) rs1188507871
NM_002469.3(MYF6):c.352C>G (p.Arg118Gly) rs34563783
NM_002469.3(MYF6):c.459G>C (p.Gln153His) rs1868399214
NM_002469.3(MYF6):c.511C>G (p.Gln171Glu) rs1013493242
NM_002469.3(MYF6):c.587G>A (p.Gly196Glu) rs750182640
NM_002469.3(MYF6):c.691C>G (p.Arg231Gly) rs1408693660
NM_139343.3(BIN1):c.1018C>G (p.Pro340Ala)
NM_139343.3(BIN1):c.1052A>C (p.Lys351Thr)
NM_139343.3(BIN1):c.1060A>G (p.Lys354Glu) rs886043420
NM_139343.3(BIN1):c.1111A>G (p.Ser371Gly) rs1553456782
NM_139343.3(BIN1):c.1113C>G (p.Ser371Arg)
NM_139343.3(BIN1):c.1121C>T (p.Thr374Ile)
NM_139343.3(BIN1):c.1124C>G (p.Pro375Arg) rs2104935838
NM_139343.3(BIN1):c.1124C>T (p.Pro375Leu)
NM_139343.3(BIN1):c.1132-2A>G rs1295546366
NM_139343.3(BIN1):c.1137G>T (p.Glu379Asp)
NM_139343.3(BIN1):c.1145G>A (p.Gly382Glu)
NM_139343.3(BIN1):c.1147C>A (p.Pro383Thr) rs1573549506
NM_139343.3(BIN1):c.1147C>T (p.Pro383Ser) rs1573549506
NM_139343.3(BIN1):c.1159C>G (p.Gln387Glu)
NM_139343.3(BIN1):c.1162G>A (p.Ala388Thr)
NM_139343.3(BIN1):c.1166G>C (p.Ser389Thr) rs1683302135
NM_139343.3(BIN1):c.11T>C (p.Met4Thr)
NM_139343.3(BIN1):c.1201G>A (p.Val401Met)
NM_139343.3(BIN1):c.1208G>A (p.Ser403Asn)
NM_139343.3(BIN1):c.1213G>A (p.Val405Met)
NM_139343.3(BIN1):c.1228C>T (p.Pro410Ser)
NM_139343.3(BIN1):c.1251G>A (p.Trp417Ter) rs2104891817
NM_139343.3(BIN1):c.1251G>C (p.Trp417Cys)
NM_139343.3(BIN1):c.1286G>A (p.Ser429Asn)
NM_139343.3(BIN1):c.1303C>A (p.Pro435Thr) rs1240564481
NM_139343.3(BIN1):c.1326T>G (p.Phe442Leu)
NM_139343.3(BIN1):c.1334C>A (p.Ser445Tyr) rs1158338100
NM_139343.3(BIN1):c.1342A>C (p.Ser448Arg)
NM_139343.3(BIN1):c.1349C>A (p.Thr450Lys) rs750715069
NM_139343.3(BIN1):c.1349C>T (p.Thr450Met)
NM_139343.3(BIN1):c.1366G>A (p.Ala456Thr)
NM_139343.3(BIN1):c.1372-1G>A rs1682909859
NM_139343.3(BIN1):c.1382C>T (p.Ala461Val)
NM_139343.3(BIN1):c.1408C>G (p.Pro470Ala)
NM_139343.3(BIN1):c.142G>A (p.Val48Ile)
NM_139343.3(BIN1):c.1435G>A (p.Glu479Lys) rs865803817
NM_139343.3(BIN1):c.1439C>A (p.Thr480Lys)
NM_139343.3(BIN1):c.1470del (p.Pro491fs)
NM_139343.3(BIN1):c.1472del (p.Pro491fs) rs1682848303
NM_139343.3(BIN1):c.1478T>C (p.Val493Ala) rs1682847067
NM_139343.3(BIN1):c.1483G>T (p.Val495Leu) rs1191840422
NM_139343.3(BIN1):c.1492T>C (p.Phe498Leu)
NM_139343.3(BIN1):c.14_15delinsAG (p.Gly5Glu)
NM_139343.3(BIN1):c.1510G>A (p.Gly504Ser)
NM_139343.3(BIN1):c.1532G>A (p.Gly511Glu)
NM_139343.3(BIN1):c.155A>T (p.Asn52Ile)
NM_139343.3(BIN1):c.1577A>G (p.Gln526Arg) rs886043878
NM_139343.3(BIN1):c.1580C>T (p.Ala527Val) rs2104859449
NM_139343.3(BIN1):c.1583A>G (p.Gln528Arg)
NM_139343.3(BIN1):c.1595C>A (p.Thr532Lys)
NM_139343.3(BIN1):c.1601C>G (p.Thr534Ser)
NM_139343.3(BIN1):c.1607C>T (p.Thr536Ile) rs773732601
NM_139343.3(BIN1):c.160C>G (p.Gln54Glu)
NM_139343.3(BIN1):c.1635T>G (p.Asp545Glu) rs1445898966
NM_139343.3(BIN1):c.165+1G>A
NM_139343.3(BIN1):c.1663C>T (p.Pro555Ser)
NM_139343.3(BIN1):c.1672C>A (p.Gln558Lys) rs1682762039
NM_139343.3(BIN1):c.1675-2A>G
NM_139343.3(BIN1):c.1675G>A (p.Asp559Asn)
NM_139343.3(BIN1):c.167C>T (p.Thr56Met)
NM_139343.3(BIN1):c.1692G>A (p.Met564Ile)
NM_139343.3(BIN1):c.1696G>T (p.Val566Leu) rs761759946
NM_139343.3(BIN1):c.1708G>A (p.Asp570Asn) rs368983991
NM_139343.3(BIN1):c.1712G>A (p.Trp571Ter)
NM_139343.3(BIN1):c.1726_1727delinsTT (p.Glu576Leu) rs2104840053
NM_139343.3(BIN1):c.173G>T (p.Gly58Val) rs1282156307
NM_139343.3(BIN1):c.1766C>T (p.Thr589Ile)
NM_139343.3(BIN1):c.1771A>G (p.Arg591Gly) rs2104839547
NM_139343.3(BIN1):c.1774G>T (p.Val592Phe)
NM_139343.3(BIN1):c.179G>A (p.Arg60Gln) rs1558835946
NM_139343.3(BIN1):c.193C>A (p.Leu65Ile) rs2105078067
NM_139343.3(BIN1):c.220+4G>A
NM_139343.3(BIN1):c.224T>C (p.Met75Thr) rs1024658796
NM_139343.3(BIN1):c.229G>A (p.Glu77Lys) rs1685759135
NM_139343.3(BIN1):c.229G>T (p.Glu77Ter)
NM_139343.3(BIN1):c.236C>T (p.Ser79Phe) rs1377099769
NM_139343.3(BIN1):c.259C>T (p.Gln87Ter) rs2105075896
NM_139343.3(BIN1):c.277G>A (p.Asp93Asn) rs774273606
NM_139343.3(BIN1):c.279T>A (p.Asp93Glu) rs770994335
NM_139343.3(BIN1):c.284C>T (p.Pro95Leu)
NM_139343.3(BIN1):c.29C>A (p.Thr10Lys) rs1681237812
NM_139343.3(BIN1):c.29C>T (p.Thr10Met)
NM_139343.3(BIN1):c.310G>A (p.Ala104Thr) rs754932468
NM_139343.3(BIN1):c.310G>T (p.Ala104Ser)
NM_139343.3(BIN1):c.313G>A (p.Glu105Lys) rs1685745258
NM_139343.3(BIN1):c.313_314delinsTT (p.Glu105Leu)
NM_139343.3(BIN1):c.315+3G>C rs764821578
NM_139343.3(BIN1):c.329T>A (p.Leu110Gln) rs2105070437
NM_139343.3(BIN1):c.376A>G (p.Met126Val)
NM_139343.3(BIN1):c.380A>G (p.Asp127Gly)
NM_139343.3(BIN1):c.382_383dup (p.Tyr129fs) rs761813363
NM_139343.3(BIN1):c.385T>C (p.Tyr129His) rs2105069995
NM_139343.3(BIN1):c.403G>A (p.Asp135Asn)
NM_139343.3(BIN1):c.411+1G>T
NM_139343.3(BIN1):c.411+5G>C
NM_139343.3(BIN1):c.418A>C (p.Ile140Leu) rs1407049344
NM_139343.3(BIN1):c.430G>A (p.Gly144Arg) rs1685516968
NM_139343.3(BIN1):c.430_432del (p.Gly144del) rs1685516331
NM_139343.3(BIN1):c.460C>T (p.Arg154Trp) rs761914168
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln) rs267606681
NM_139343.3(BIN1):c.469T>C (p.Tyr157His) rs1553466026
NM_139343.3(BIN1):c.478C>T (p.Leu160Phe) rs1685511003
NM_139343.3(BIN1):c.493AAG[1] (p.Lys166del) rs775374523
NM_139343.3(BIN1):c.506C>A (p.Ala169Asp)
NM_139343.3(BIN1):c.519+6G>T
NM_139343.3(BIN1):c.51C>G (p.Asn17Lys) rs2105378914
NM_139343.3(BIN1):c.552G>C (p.Gln184His)
NM_139343.3(BIN1):c.55C>G (p.Gln19Glu) rs2105378861
NM_139343.3(BIN1):c.574G>T (p.Ala192Ser)
NM_139343.3(BIN1):c.596A>T (p.Asn199Ile) rs2105049284
NM_139343.3(BIN1):c.5C>T (p.Ala2Val)
NM_139343.3(BIN1):c.61A>C (p.Lys21Gln)
NM_139343.3(BIN1):c.662T>A (p.Val221Glu)
NM_139343.3(BIN1):c.666T>G (p.Asp222Glu) rs376323215
NM_139343.3(BIN1):c.679C>G (p.Leu227Val) rs886054835
NM_139343.3(BIN1):c.701G>A (p.Arg234His)
NM_139343.3(BIN1):c.70C>G (p.Arg24Gly) rs2105378684
NM_139343.3(BIN1):c.70C>T (p.Arg24Cys)
NM_139343.3(BIN1):c.727C>G (p.Gln243Glu)
NM_139343.3(BIN1):c.737C>T (p.Ala246Val)
NM_139343.3(BIN1):c.740G>A (p.Gly247Asp) rs1684781364
NM_139343.3(BIN1):c.769A>G (p.Ser257Gly)
NM_139343.3(BIN1):c.770G>A (p.Ser257Asn) rs761203710
NM_139343.3(BIN1):c.779A>T (p.Asn260Ile)
NM_139343.3(BIN1):c.821A>G (p.His274Arg)
NM_139343.3(BIN1):c.823G>T (p.Gly275Trp) rs771506242
NM_139343.3(BIN1):c.84+14A>T rs2105378351
NM_139343.3(BIN1):c.84+4286_84+4287delinsAT
NM_139343.3(BIN1):c.84+6C>A
NM_139343.3(BIN1):c.847G>A (p.Ala283Thr)
NM_139343.3(BIN1):c.84G>C (p.Lys28Asn) rs1681229622
NM_139343.3(BIN1):c.857+4C>G
NM_139343.3(BIN1):c.857+5G>A
NM_139343.3(BIN1):c.863A>G (p.Asn288Ser) rs2104954121
NM_139343.3(BIN1):c.865G>A (p.Ala289Thr)
NM_139343.3(BIN1):c.901G>T (p.Asp301Tyr) rs1462533329
NM_139343.3(BIN1):c.902A>G (p.Asp301Gly) rs1259572705
NM_139343.3(BIN1):c.916G>A (p.Ala306Thr)
NM_139343.3(BIN1):c.920C>T (p.Thr307Ile) rs199551366
NM_139343.3(BIN1):c.935T>G (p.Val312Gly)
NM_139343.3(BIN1):c.943G>A (p.Glu315Lys) rs769801396
NM_139343.3(BIN1):c.943G>C (p.Glu315Gln) rs769801396
NM_139343.3(BIN1):c.953C>T (p.Pro318Leu)
NM_139343.3(BIN1):c.958G>A (p.Gly320Ser)
NM_139343.3(BIN1):c.969_980del (p.Pro324_Thr327del)
NM_139343.3(BIN1):c.969_980dup (p.Thr327_Leu328insProGlyAlaThr)
NM_139343.3(BIN1):c.992C>G (p.Ser331Cys)
NM_139343.3(BIN1):c.9G>C (p.Glu3Asp) rs558639756

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