Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18785717C>ACA404882552COMPc.1624G>T (p.Glu542Ter)
c.1465G>T (p.Glu489Ter)
c.1525G>T (p.Glu509Ter)
19g.18785717C>GCA404882554COMPc.1624G>C (p.Glu542Gln)
c.1465G>C (p.Glu489Gln)
c.1525G>C (p.Glu509Gln)
19g.18785717C>TCA404882555COMPc.1624G>A (p.Glu542Lys)
c.1465G>A (p.Glu489Lys)
c.1525G>A (p.Glu509Lys)
19g.18785718C>ACA506117336COMPc.1623G>T (p.Pro541=)
c.1464G>T (p.Pro488=)
c.1524G>T (p.Pro508=)
19g.18785718C>GCA506117337COMPc.1623G>C (p.Pro541=)
c.1464G>C (p.Pro488=)
c.1524G>C (p.Pro508=)
 gnomAD v4
19g.18785718C>TCA506117338COMPc.1623G>A (p.Pro541=)
c.1464G>A (p.Pro488=)
c.1524G>A (p.Pro508=)
 gnomAD v4
19g.18785719G>ACA404882561COMPc.1622C>T (p.Pro541Leu)
c.1463C>T (p.Pro488Leu)
c.1523C>T (p.Pro508Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785719G>CCA404882566COMPc.1622C>G (p.Pro541Arg)
c.1463C>G (p.Pro488Arg)
c.1523C>G (p.Pro508Arg)
19g.18785719G=CA2326525340COMPc.1622C= (p.Pro541=)
c.1463C= (p.Pro488=)
c.1523C= (p.Pro508=)
19g.18785719G>TCA404882557COMPc.1622C>A (p.Pro541Gln)
c.1463C>A (p.Pro488Gln)
c.1523C>A (p.Pro508Gln)
 gnomAD v4
19g.18785720G>ACA404882570COMPc.1621C>T (p.Pro541Ser)
c.1462C>T (p.Pro488Ser)
c.1522C>T (p.Pro508Ser)
 dbSNP gnomAD v3 gnomAD v4
19g.18785720G>CCA404882579COMPc.1621C>G (p.Pro541Ala)
c.1462C>G (p.Pro488Ala)
c.1522C>G (p.Pro508Ala)
 ClinVar dbSNP
19g.18785720G=CA2326525341COMPc.1621C= (p.Pro541=)
c.1462C= (p.Pro488=)
c.1522C= (p.Pro508=)
19g.18785720G>TCA404882577COMPc.1621C>A (p.Pro541Thr)
c.1462C>A (p.Pro488Thr)
c.1522C>A (p.Pro508Thr)
19g.18785721G>ACA506117343COMPc.1620C>T (p.Asp540=)
c.1461C>T (p.Asp487=)
c.1521C>T (p.Asp507=)
 dbSNP gnomAD v2
19g.18785721G>CCA404882581COMPc.1620C>G (p.Asp540Glu)
c.1461C>G (p.Asp487Glu)
c.1521C>G (p.Asp507Glu)
19g.18785721G=CA2326525342COMPc.1620C= (p.Asp540=)
c.1461C= (p.Asp487=)
c.1521C= (p.Asp507=)
19g.18785721G>TCA404882583COMPc.1620C>A (p.Asp540Glu)
c.1461C>A (p.Asp487Glu)
c.1521C>A (p.Asp507Glu)
19g.18785722T>ACA9316345COMPc.1619A>T (p.Asp540Val)
c.1460A>T (p.Asp487Val)
c.1520A>T (p.Asp507Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785722T>CCA404882593COMPc.1619A>G (p.Asp540Gly)
c.1460A>G (p.Asp487Gly)
c.1520A>G (p.Asp507Gly)
19g.18785722T>GCA404882628COMPc.1619A>C (p.Asp540Ala)
c.1460A>C (p.Asp487Ala)
c.1520A>C (p.Asp507Ala)
 dbSNP
19g.18785722T=CA2326525343COMPc.1619A= (p.Asp540=)
c.1460A= (p.Asp487=)
c.1520A= (p.Asp507=)
19g.18785723C>ACA9316346COMPc.1618G>T (p.Asp540Tyr)
c.1459G>T (p.Asp487Tyr)
c.1519G>T (p.Asp507Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785723C=CA2326525344COMPc.1618G= (p.Asp540=)
c.1459G= (p.Asp487=)
c.1519G= (p.Asp507=)
19g.18785723C>GCA404882649COMPc.1618G>C (p.Asp540His)
c.1459G>C (p.Asp487His)
c.1519G>C (p.Asp507His)
19g.18785723C>TCA404882652COMPc.1618G>A (p.Asp540Asn)
c.1459G>A (p.Asp487Asn)
c.1519G>A (p.Asp507Asn)
 gnomAD v4
19g.18785724C>ACA506117346COMPc.1617G>T (p.Leu539=)
c.1458G>T (p.Leu486=)
c.1518G>T (p.Leu506=)
19g.18785724C=CA2326525345COMPc.1617G= (p.Leu539=)
c.1458G= (p.Leu486=)
c.1518G= (p.Leu506=)
19g.18785724C>GCA506117347COMPc.1617G>C (p.Leu539=)
c.1458G>C (p.Leu486=)
c.1518G>C (p.Leu506=)
19g.18785724C>TCA9316347COMPc.1617G>A (p.Leu539=)
c.1458G>A (p.Leu486=)
c.1518G>A (p.Leu506=)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
19g.18785725A>CCA404882665COMPc.1616T>G (p.Leu539Arg)
c.1457T>G (p.Leu486Arg)
c.1517T>G (p.Leu506Arg)
19g.18785725A>GCA404882667COMPc.1616T>C (p.Leu539Pro)
c.1457T>C (p.Leu486Pro)
c.1517T>C (p.Leu506Pro)
19g.18785725A>TCA404882671COMPc.1616T>A (p.Leu539Gln)
c.1457T>A (p.Leu486Gln)
c.1517T>A (p.Leu506Gln)
19g.18785726G>ACA506117353COMPc.1615C>T (p.Leu539=)
c.1456C>T (p.Leu486=)
c.1516C>T (p.Leu506=)
19g.18785726G>CCA404882674COMPc.1615C>G (p.Leu539Val)
c.1456C>G (p.Leu486Val)
c.1516C>G (p.Leu506Val)
19g.18785726G>TCA404882678COMPc.1615C>A (p.Leu539Met)
c.1456C>A (p.Leu486Met)
c.1516C>A (p.Leu506Met)
19g.18785727C>ACA506117354COMPc.1614G>T (p.Val538=)
c.1455G>T (p.Val485=)
c.1515G>T (p.Val505=)
19g.18785727C=CA2326525346COMPc.1614G= (p.Val538=)
c.1455G= (p.Val485=)
c.1515G= (p.Val505=)
19g.18785727C>GCA9316348COMPc.1614G>C (p.Val538=)
c.1455G>C (p.Val485=)
c.1515G>C (p.Val505=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785727C>TCA506117357COMPc.1614G>A (p.Val538=)
c.1455G>A (p.Val485=)
c.1515G>A (p.Val505=)
19g.18785728A>CCA404882684COMPc.1613T>G (p.Val538Gly)
c.1454T>G (p.Val485Gly)
c.1514T>G (p.Val505Gly)
19g.18785728A>GCA404882688COMPc.1613T>C (p.Val538Ala)
c.1454T>C (p.Val485Ala)
c.1514T>C (p.Val505Ala)
 gnomAD v4
19g.18785728A>TCA404882698COMPc.1613T>A (p.Val538Glu)
c.1454T>A (p.Val485Glu)
c.1514T>A (p.Val505Glu)
19g.18785729C>ACA404882702COMPc.1612G>T (p.Val538Leu)
c.1453G>T (p.Val485Leu)
c.1513G>T (p.Val505Leu)
 gnomAD v4
19g.18785729C>GCA404882706COMPc.1612G>C (p.Val538Leu)
c.1453G>C (p.Val485Leu)
c.1513G>C (p.Val505Leu)
 gnomAD v4
19g.18785729C>TCA404882709COMPc.1612G>A (p.Val538Met)
c.1453G>A (p.Val485Met)
c.1513G>A (p.Val505Met)
19g.18785730G>ACA506117362COMPc.1611C>T (p.Val537=)
c.1452C>T (p.Val484=)
c.1512C>T (p.Val504=)
 gnomAD v4
19g.18785730G>CCA506117364COMPc.1611C>G (p.Val537=)
c.1452C>G (p.Val484=)
c.1512C>G (p.Val504=)
19g.18785730G>TCA506117367COMPc.1611C>A (p.Val537=)
c.1452C>A (p.Val484=)
c.1512C>A (p.Val504=)
 gnomAD v4 COSMIC
19g.18785731A=CA2326525347COMPc.1610T= (p.Val537=)
c.1451T= (p.Val484=)
c.1511T= (p.Val504=)
19g.18785731A>CCA404882714COMPc.1610T>G (p.Val537Gly)
c.1451T>G (p.Val484Gly)
c.1511T>G (p.Val504Gly)
19g.18785731A>GCA404882722COMPc.1610T>C (p.Val537Ala)
c.1451T>C (p.Val484Ala)
c.1511T>C (p.Val504Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785731A>TCA404882726COMPc.1610T>A (p.Val537Asp)
c.1451T>A (p.Val484Asp)
c.1511T>A (p.Val504Asp)
19g.18785732C>ACA404882733COMPc.1609G>T (p.Val537Phe)
c.1450G>T (p.Val484Phe)
c.1510G>T (p.Val504Phe)
19g.18785732C=CA2326525348COMPc.1609G= (p.Val537=)
c.1450G= (p.Val484=)
c.1510G= (p.Val504=)
19g.18785732C>GCA404882748COMPc.1609G>C (p.Val537Leu)
c.1450G>C (p.Val484Leu)
c.1510G>C (p.Val504Leu)
 dbSNP gnomAD v3 gnomAD v4
19g.18785732C>TCA404882730COMPc.1609G>A (p.Val537Ile)
c.1450G>A (p.Val484Ile)
c.1510G>A (p.Val504Ile)
 gnomAD v4
19g.18785733T>ACA506117371COMPc.1608A>T (p.Thr536=)
c.1449A>T (p.Thr483=)
c.1509A>T (p.Thr503=)
19g.18785733T>CCA506117373COMPc.1608A>G (p.Thr536=)
c.1449A>G (p.Thr483=)
c.1509A>G (p.Thr503=)
 gnomAD v4
19g.18785733T>GCA506117372COMPc.1608A>C (p.Thr536=)
c.1449A>C (p.Thr483=)
c.1509A>C (p.Thr503=)
 dbSNP gnomAD v2 gnomAD v4
19g.18785733T=CA2326525349COMPc.1608A= (p.Thr536=)
c.1449A= (p.Thr483=)
c.1509A= (p.Thr503=)
19g.18785734G>ACA9316349COMPc.1607C>T (p.Thr536Ile)
c.1448C>T (p.Thr483Ile)
c.1508C>T (p.Thr503Ile)
 dbSNP ExAC gnomAD v2
19g.18785734G>CCA404882756COMPc.1607C>G (p.Thr536Arg)
c.1448C>G (p.Thr483Arg)
c.1508C>G (p.Thr503Arg)
19g.18785734G=CA2326525350COMPc.1607C= (p.Thr536=)
c.1448C= (p.Thr483=)
c.1508C= (p.Thr503=)
19g.18785734G>TCA404882762COMPc.1607C>A (p.Thr536Lys)
c.1448C>A (p.Thr483Lys)
c.1508C>A (p.Thr503Lys)
19g.18785735T>ACA404882765COMPc.1606A>T (p.Thr536Ser)
c.1447A>T (p.Thr483Ser)
c.1507A>T (p.Thr503Ser)
19g.18785735T>CCA404882769COMPc.1606A>G (p.Thr536Ala)
c.1447A>G (p.Thr483Ala)
c.1507A>G (p.Thr503Ala)
19g.18785735T>GCA404882771COMPc.1606A>C (p.Thr536Pro)
c.1447A>C (p.Thr483Pro)
c.1507A>C (p.Thr503Pro)
19g.18785736C>ACA404882772COMPc.1605G>T (p.Gln535His)
c.1446G>T (p.Gln482His)
c.1506G>T (p.Gln502His)
19g.18785736C=CA2326525351COMPc.1605G= (p.Gln535=)
c.1446G= (p.Gln482=)
c.1506G= (p.Gln502=)
19g.18785736C>GCA404882773COMPc.1605G>C (p.Gln535His)
c.1446G>C (p.Gln482His)
c.1506G>C (p.Gln502His)
 dbSNP
19g.18785736C>TCA506117377COMPc.1605G>A (p.Gln535=)
c.1446G>A (p.Gln482=)
c.1506G>A (p.Gln502=)
19g.18785737T>ACA404882778COMPc.1604A>T (p.Gln535Leu)
c.1445A>T (p.Gln482Leu)
c.1505A>T (p.Gln502Leu)
19g.18785737T>CCA306254611COMPc.1604A>G (p.Gln535Arg)
c.1445A>G (p.Gln482Arg)
c.1505A>G (p.Gln502Arg)
 dbSNP
19g.18785737T>GCA404882817COMPc.1604A>C (p.Gln535Pro)
c.1445A>C (p.Gln482Pro)
c.1505A>C (p.Gln502Pro)
19g.18785737T=CA2326525352COMPc.1604A= (p.Gln535=)
c.1445A= (p.Gln482=)
c.1505A= (p.Gln502=)
19g.18785738G>ACA404882846COMPc.1603C>T (p.Gln535Ter)
c.1444C>T (p.Gln482Ter)
c.1504C>T (p.Gln502Ter)
19g.18785738G>CCA404882851COMPc.1603C>G (p.Gln535Glu)
c.1444C>G (p.Gln482Glu)
c.1504C>G (p.Gln502Glu)
19g.18785738G>TCA404882839COMPc.1603C>A (p.Gln535Lys)
c.1444C>A (p.Gln482Lys)
c.1504C>A (p.Gln502Lys)
19g.18785739G>ACA506117379COMPc.1602C>T (p.Phe534=)
c.1443C>T (p.Phe481=)
c.1503C>T (p.Phe501=)
 gnomAD v4
19g.18785739G>CCA404882856COMPc.1602C>G (p.Phe534Leu)
c.1443C>G (p.Phe481Leu)
c.1503C>G (p.Phe501Leu)
 dbSNP gnomAD v3 gnomAD v4
19g.18785739G=CA2326525353COMPc.1602C= (p.Phe534=)
c.1443C= (p.Phe481=)
c.1503C= (p.Phe501=)
19g.18785739G>TCA404882873COMPc.1602C>A (p.Phe534Leu)
c.1443C>A (p.Phe481Leu)
c.1503C>A (p.Phe501Leu)
19g.18785740A>CCA404882880COMPc.1601T>G (p.Phe534Cys)
c.1442T>G (p.Phe481Cys)
c.1502T>G (p.Phe501Cys)
19g.18785740A>GCA404882888COMPc.1601T>C (p.Phe534Ser)
c.1442T>C (p.Phe481Ser)
c.1502T>C (p.Phe501Ser)
19g.18785740A>TCA404882897COMPc.1601T>A (p.Phe534Tyr)
c.1442T>A (p.Phe481Tyr)
c.1502T>A (p.Phe501Tyr)
19g.18785741A=CA2326525354COMPc.1600T= (p.Phe534=)
c.1441T= (p.Phe481=)
c.1501T= (p.Phe501=)
19g.18785741A>CCA404882924COMPc.1600T>G (p.Phe534Val)
c.1441T>G (p.Phe481Val)
c.1501T>G (p.Phe501Val)
19g.18785741A>GCA404882902COMPc.1600T>C (p.Phe534Leu)
c.1441T>C (p.Phe481Leu)
c.1501T>C (p.Phe501Leu)
19g.18785741A>TCA306254613COMPc.1600T>A (p.Phe534Ile)
c.1441T>A (p.Phe481Ile)
c.1501T>A (p.Phe501Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785742G>ACA506117386COMPc.1599C>T (p.Ala533=)
c.1440C>T (p.Ala480=)
c.1500C>T (p.Ala500=)
 gnomAD v4
19g.18785742G>CCA506117387COMPc.1599C>G (p.Ala533=)
c.1440C>G (p.Ala480=)
c.1500C>G (p.Ala500=)
19g.18785742G>TCA506117388COMPc.1599C>A (p.Ala533=)
c.1440C>A (p.Ala480=)
c.1500C>A (p.Ala500=)
19g.18785743G>ACA404882939COMPc.1598C>T (p.Ala533Val)
c.1439C>T (p.Ala480Val)
c.1499C>T (p.Ala500Val)
19g.18785743G>CCA404882942COMPc.1598C>G (p.Ala533Gly)
c.1439C>G (p.Ala480Gly)
c.1499C>G (p.Ala500Gly)
19g.18785743G>TCA404882944COMPc.1598C>A (p.Ala533Asp)
c.1439C>A (p.Ala480Asp)
c.1499C>A (p.Ala500Asp)
 gnomAD v4
19g.18785744C>ACA404882947COMPc.1597G>T (p.Ala533Ser)
c.1438G>T (p.Ala480Ser)
c.1498G>T (p.Ala500Ser)
19g.18785744C=CA2326525355COMPc.1597G= (p.Ala533=)
c.1438G= (p.Ala480=)
c.1498G= (p.Ala500=)
19g.18785744C>GCA404882957COMPc.1597G>C (p.Ala533Pro)
c.1438G>C (p.Ala480Pro)
c.1498G>C (p.Ala500Pro)
19g.18785744C>TCA9316350COMPc.1597G>A (p.Ala533Thr)
c.1438G>A (p.Ala480Thr)
c.1498G>A (p.Ala500Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785745C>ACA404882970COMPc.1596G>T (p.Arg532Ser)
c.1437G>T (p.Arg479Ser)
c.1497G>T (p.Arg499Ser)
19g.18785745C>GCA404882966COMPc.1596G>C (p.Arg532Ser)
c.1437G>C (p.Arg479Ser)
c.1497G>C (p.Arg499Ser)
19g.18785745C>TCA506117393COMPc.1596G>A (p.Arg532=)
c.1437G>A (p.Arg479=)
c.1497G>A (p.Arg499=)
19g.18785746C>ACA404882974COMPc.1595G>T (p.Arg532Met)
c.1436G>T (p.Arg479Met)
c.1496G>T (p.Arg499Met)
19g.18785746C>GCA404882981COMPc.1595G>C (p.Arg532Thr)
c.1436G>C (p.Arg479Thr)
c.1496G>C (p.Arg499Thr)
19g.18785746C>TCA404882979COMPc.1595G>A (p.Arg532Lys)
c.1436G>A (p.Arg479Lys)
c.1496G>A (p.Arg499Lys)
19g.18785747T>ACA404882982COMPc.1594A>T (p.Arg532Trp)
c.1435A>T (p.Arg479Trp)
c.1495A>T (p.Arg499Trp)
19g.18785747T>CCA404882983COMPc.1594A>G (p.Arg532Gly)
c.1435A>G (p.Arg479Gly)
c.1495A>G (p.Arg499Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.18785747T>GCA506117398COMPc.1594A>C (p.Arg532=)
c.1435A>C (p.Arg479=)
c.1495A>C (p.Arg499=)
 dbSNP
19g.18785747T=CA2326525356COMPc.1594A= (p.Arg532=)
c.1435A= (p.Arg479=)
c.1495A= (p.Arg499=)
19g.18785748G>ACA506117399COMPc.1593C>T (p.Phe531=)
c.1434C>T (p.Phe478=)
c.1494C>T (p.Phe498=)
 COSMIC
19g.18785748G>CCA404882987COMPc.1593C>G (p.Phe531Leu)
c.1434C>G (p.Phe478Leu)
c.1494C>G (p.Phe498Leu)
 ClinVar
19g.18785748G>TCA404882991COMPc.1593C>A (p.Phe531Leu)
c.1434C>A (p.Phe478Leu)
c.1494C>A (p.Phe498Leu)
19g.18785749A>CCA404882994COMPc.1592T>G (p.Phe531Cys)
c.1433T>G (p.Phe478Cys)
c.1493T>G (p.Phe498Cys)
19g.18785749A>GCA404882998COMPc.1592T>C (p.Phe531Ser)
c.1433T>C (p.Phe478Ser)
c.1493T>C (p.Phe498Ser)
19g.18785749A>TCA404883002COMPc.1592T>A (p.Phe531Tyr)
c.1433T>A (p.Phe478Tyr)
c.1493T>A (p.Phe498Tyr)
19g.18785750A>CCA404883015COMPc.1591T>G (p.Phe531Val)
c.1432T>G (p.Phe478Val)
c.1492T>G (p.Phe498Val)
19g.18785750A>GCA404883006COMPc.1591T>C (p.Phe531Leu)
c.1432T>C (p.Phe478Leu)
c.1492T>C (p.Phe498Leu)
19g.18785750A>TCA404883010COMPc.1591T>A (p.Phe531Ile)
c.1432T>A (p.Phe478Ile)
c.1492T>A (p.Phe498Ile)
19g.18785751G>ACA506117409COMPc.1590C>T (p.Asp530=)
c.1431C>T (p.Asp477=)
c.1491C>T (p.Asp497=)
 ClinVar
19g.18785751G>CCA404883017COMPc.1590C>G (p.Asp530Glu)
c.1431C>G (p.Asp477Glu)
c.1491C>G (p.Asp497Glu)
19g.18785751G=CA2326525357COMPc.1590C= (p.Asp530=)
c.1431C= (p.Asp477=)
c.1491C= (p.Asp497=)
19g.18785751G>TCA9316351COMPc.1590C>A (p.Asp530Glu)
c.1431C>A (p.Asp477Glu)
c.1491C>A (p.Asp497Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785752T>ACA404883026COMPc.1589A>T (p.Asp530Val)
c.1430A>T (p.Asp477Val)
c.1490A>T (p.Asp497Val)
19g.18785752T>CCA9316352COMPc.1589A>G (p.Asp530Gly)
c.1430A>G (p.Asp477Gly)
c.1490A>G (p.Asp497Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785752T>GCA404883031COMPc.1589A>C (p.Asp530Ala)
c.1430A>C (p.Asp477Ala)
c.1490A>C (p.Asp497Ala)
19g.18785752T=CA2326525358COMPc.1589A= (p.Asp530=)
c.1430A= (p.Asp477=)
c.1490A= (p.Asp497=)
19g.18785753C>ACA404883034COMPc.1588G>T (p.Asp530Tyr)
c.1429G>T (p.Asp477Tyr)
c.1489G>T (p.Asp497Tyr)
19g.18785753C=CA2326525359COMPc.1588G= (p.Asp530=)
c.1429G= (p.Asp477=)
c.1489G= (p.Asp497=)
19g.18785753C>GCA404883036COMPc.1588G>C (p.Asp530His)
c.1429G>C (p.Asp477His)
c.1489G>C (p.Asp497His)
19g.18785753C>TCA9316353COMPc.1588G>A (p.Asp530Asn)
c.1429G>A (p.Asp477Asn)
c.1489G>A (p.Asp497Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.18785754G>ACA306254642COMPc.1587C>T (p.Thr529=)
c.1428C>T (p.Thr476=)
c.1488C>T (p.Thr496=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785754G>CCA506117414COMPc.1587C>G (p.Thr529=)
c.1428C>G (p.Thr476=)
c.1488C>G (p.Thr496=)
19g.18785754G=CA2326525360COMPc.1587C= (p.Thr529=)
c.1428C= (p.Thr476=)
c.1488C= (p.Thr496=)
19g.18785754G>TCA506117415COMPc.1587C>A (p.Thr529=)
c.1428C>A (p.Thr476=)
c.1488C>A (p.Thr496=)
 dbSNP gnomAD v2 gnomAD v4
19g.18785755G>ACA343855COMPc.1586C>T (p.Thr529Ile)
c.1427C>T (p.Thr476Ile)
c.1487C>T (p.Thr496Ile)
 ClinVar dbSNP
19g.18785755G>CCA404883039COMPc.1586C>G (p.Thr529Ser)
c.1427C>G (p.Thr476Ser)
c.1487C>G (p.Thr496Ser)
19g.18785755G=CA2326525361COMPc.1586C= (p.Thr529=)
c.1427C= (p.Thr476=)
c.1487C= (p.Thr496=)
19g.18785755G>TCA404883043COMPc.1586C>A (p.Thr529Asn)
c.1427C>A (p.Thr476Asn)
c.1487C>A (p.Thr496Asn)
19g.18785759_18785764delCA2573156199COMPc.1581_1586del (p.Leu528_Thr529del)
c.1422_1427del (p.Leu475_Thr476del)
c.1482_1487del (p.Leu495_Thr496del)
 ClinVar dbSNP
19g.18785756T>ACA404883049COMPc.1585A>T (p.Thr529Ser)
c.1426A>T (p.Thr476Ser)
c.1486A>T (p.Thr496Ser)
19g.18785756T>CCA404883051COMPc.1585A>G (p.Thr529Ala)
c.1426A>G (p.Thr476Ala)
c.1486A>G (p.Thr496Ala)
19g.18785756T>GCA404883055COMPc.1585A>C (p.Thr529Pro)
c.1426A>C (p.Thr476Pro)
c.1486A>C (p.Thr496Pro)
19g.18785757G>ACA9316354COMPc.1584C>T (p.Leu528=)
c.1425C>T (p.Leu475=)
c.1485C>T (p.Leu495=)
 dbSNP ExAC gnomAD v3 gnomAD v4
19g.18785757G>CCA9316355COMPc.1584C>G (p.Leu528=)
c.1425C>G (p.Leu475=)
c.1485C>G (p.Leu495=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785757G=CA2326525362COMPc.1584C= (p.Leu528=)
c.1425C= (p.Leu475=)
c.1485C= (p.Leu495=)
19g.18785757G>TCA506117420COMPc.1584C>A (p.Leu528=)
c.1425C>A (p.Leu475=)
c.1485C>A (p.Leu495=)
 gnomAD v4
19g.18785758A>CCA404883063COMPc.1583T>G (p.Leu528Arg)
c.1424T>G (p.Leu475Arg)
c.1484T>G (p.Leu495Arg)
19g.18785758A>GCA404883065COMPc.1583T>C (p.Leu528Pro)
c.1424T>C (p.Leu475Pro)
c.1484T>C (p.Leu495Pro)
19g.18785758A>TCA404883067COMPc.1583T>A (p.Leu528His)
c.1424T>A (p.Leu475His)
c.1484T>A (p.Leu495His)
19g.18785759G>ACA404883072COMPc.1582C>T (p.Leu528Phe)
c.1423C>T (p.Leu475Phe)
c.1483C>T (p.Leu495Phe)
19g.18785759G>CCA404883078COMPc.1582C>G (p.Leu528Val)
c.1423C>G (p.Leu475Val)
c.1483C>G (p.Leu495Val)
 dbSNP gnomAD v4
19g.18785759G=CA2326525363COMPc.1582C= (p.Leu528=)
c.1423C= (p.Leu475=)
c.1483C= (p.Leu495=)
19g.18785759G>TCA404883075COMPc.1582C>A (p.Leu528Ile)
c.1423C>A (p.Leu475Ile)
c.1483C>A (p.Leu495Ile)
19g.18785760C>ACA506117424COMPc.1581G>T (p.Thr527=)
c.1422G>T (p.Thr474=)
c.1482G>T (p.Thr494=)
19g.18785760C=CA2326525364COMPc.1581G= (p.Thr527=)
c.1422G= (p.Thr474=)
c.1482G= (p.Thr494=)
19g.18785760C>GCA506117425COMPc.1581G>C (p.Thr527=)
c.1422G>C (p.Thr474=)
c.1482G>C (p.Thr494=)
19g.18785760C>TCA506117426COMPc.1581G>A (p.Thr527=)
c.1422G>A (p.Thr474=)
c.1482G>A (p.Thr494=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.18785761G>ACA404883081COMPc.1580C>T (p.Thr527Met)
c.1421C>T (p.Thr474Met)
c.1481C>T (p.Thr494Met)
 dbSNP gnomAD v2 gnomAD v4
19g.18785761G>CCA404883084COMPc.1580C>G (p.Thr527Arg)
c.1421C>G (p.Thr474Arg)
c.1481C>G (p.Thr494Arg)
 gnomAD v4
19g.18785761G=CA2326525365COMPc.1580C= (p.Thr527=)
c.1421C= (p.Thr474=)
c.1481C= (p.Thr494=)
19g.18785761G>TCA404883086COMPc.1580C>A (p.Thr527Lys)
c.1421C>A (p.Thr474Lys)
c.1481C>A (p.Thr494Lys)
19g.18785762T>ACA404883088COMPc.1579A>T (p.Thr527Ser)
c.1420A>T (p.Thr474Ser)
c.1480A>T (p.Thr494Ser)
19g.18785762T>CCA306254661COMPc.1579A>G (p.Thr527Ala)
c.1420A>G (p.Thr474Ala)
c.1480A>G (p.Thr494Ala)
 ClinVar dbSNP
19g.18785762T>GCA404883092COMPc.1579A>C (p.Thr527Pro)
c.1420A>C (p.Thr474Pro)
c.1480A>C (p.Thr494Pro)
19g.18785762T=CA2326525366COMPc.1579A= (p.Thr527=)
c.1420A= (p.Thr474=)
c.1480A= (p.Thr494=)
19g.18785763G>ACA506117428COMPc.1578C>T (p.Val526=)
c.1419C>T (p.Val473=)
c.1479C>T (p.Val493=)
 dbSNP gnomAD v3 gnomAD v4
19g.18785763G>CCA506117429COMPc.1578C>G (p.Val526=)
c.1419C>G (p.Val473=)
c.1479C>G (p.Val493=)
19g.18785763G=CA2326525367COMPc.1578C= (p.Val526=)
c.1419C= (p.Val473=)
c.1479C= (p.Val493=)
19g.18785763G>TCA506117430COMPc.1578C>A (p.Val526=)
c.1419C>A (p.Val473=)
c.1479C>A (p.Val493=)
19g.18785764A>CCA404883094COMPc.1577T>G (p.Val526Gly)
c.1418T>G (p.Val473Gly)
c.1478T>G (p.Val493Gly)
19g.18785764A>GCA404883095COMPc.1577T>C (p.Val526Ala)
c.1418T>C (p.Val473Ala)
c.1478T>C (p.Val493Ala)
19g.18785764A>TCA404883097COMPc.1577T>A (p.Val526Asp)
c.1418T>A (p.Val473Asp)
c.1478T>A (p.Val493Asp)
19g.18785765C>ACA404883103COMPc.1576G>T (p.Val526Phe)
c.1417G>T (p.Val473Phe)
c.1477G>T (p.Val493Phe)
19g.18785765C=CA2326525368COMPc.1576G= (p.Val526=)
c.1417G= (p.Val473=)
c.1477G= (p.Val493=)
19g.18785765C>GCA404883113COMPc.1576G>C (p.Val526Leu)
c.1417G>C (p.Val473Leu)
c.1477G>C (p.Val493Leu)
19g.18785765C>TCA404883116COMPc.1576G>A (p.Val526Ile)
c.1417G>A (p.Val473Ile)
c.1477G>A (p.Val493Ile)
 dbSNP gnomAD v2 gnomAD v4
19g.18785766T>ACA404883123COMPc.1575A>T (p.Glu525Asp)
c.1416A>T (p.Glu472Asp)
c.1476A>T (p.Glu492Asp)
19g.18785766T>CCA506117433COMPc.1575A>G (p.Glu525=)
c.1416A>G (p.Glu472=)
c.1476A>G (p.Glu492=)
19g.18785766T>GCA404883122COMPc.1575A>C (p.Glu525Asp)
c.1416A>C (p.Glu472Asp)
c.1476A>C (p.Glu492Asp)
19g.18785767T>ACA404883126COMPc.1574A>T (p.Glu525Val)
c.1415A>T (p.Glu472Val)
c.1475A>T (p.Glu492Val)
19g.18785767T>CCA404883128COMPc.1574A>G (p.Glu525Gly)
c.1415A>G (p.Glu472Gly)
c.1475A>G (p.Glu492Gly)
19g.18785767T>GCA404883131COMPc.1574A>C (p.Glu525Ala)
c.1415A>C (p.Glu472Ala)
c.1475A>C (p.Glu492Ala)
19g.18785767_18785781delinsTCAGCGTTCTCCGGACA2326525369COMPc.1560_1574delinsTCCGGAGAACGCTGA (p.Cys520=)
c.1401_1415delinsTCCGGAGAACGCTGA (p.Cys467=)
c.1461_1475delinsTCCGGAGAACGCTGA (p.Cys487=)
19g.18785768C>ACA404883134COMPc.1573G>T (p.Glu525Ter)
c.1414G>T (p.Glu472Ter)
c.1474G>T (p.Glu492Ter)
19g.18785768C>GCA404883137COMPc.1573G>C (p.Glu525Gln)
c.1414G>C (p.Glu472Gln)
c.1474G>C (p.Glu492Gln)
19g.18785768C>TCA404883140COMPc.1573G>A (p.Glu525Lys)
c.1414G>A (p.Glu472Lys)
c.1474G>A (p.Glu492Lys)
19g.18785768_18785772delCA2735825195COMPc.1569_1573del (p.Asn523LysfsTer20)
c.1410_1414del (p.Asn470LysfsTer20)
c.1470_1474del (p.Asn490LysfsTer20)
 dbSNP
19g.18785770_18785783delCA9316356COMPc.1560_1573del (p.Cys520Ter)
c.1401_1414del (p.Cys467Ter)
c.1461_1474del (p.Cys487Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785769A>CCA506117438COMPc.1572T>G (p.Ala524=)
c.1413T>G (p.Ala471=)
c.1473T>G (p.Ala491=)
19g.18785769A>GCA506117440COMPc.1572T>C (p.Ala524=)
c.1413T>C (p.Ala471=)
c.1473T>C (p.Ala491=)
19g.18785769A>TCA506117441COMPc.1572T>A (p.Ala524=)
c.1413T>A (p.Ala471=)
c.1473T>A (p.Ala491=)
19g.18785770G>ACA404883144COMPc.1571C>T (p.Ala524Val)
c.1412C>T (p.Ala471Val)
c.1472C>T (p.Ala491Val)
19g.18785770G>CCA404883148COMPc.1571C>G (p.Ala524Gly)
c.1412C>G (p.Ala471Gly)
c.1472C>G (p.Ala491Gly)
19g.18785770G>TCA404883149COMPc.1571C>A (p.Ala524Asp)
c.1412C>A (p.Ala471Asp)
c.1472C>A (p.Ala491Asp)
 gnomAD v4
19g.18785771C>ACA404883150COMPc.1570G>T (p.Ala524Ser)
c.1411G>T (p.Ala471Ser)
c.1471G>T (p.Ala491Ser)
 dbSNP
19g.18785771C=CA2326525370COMPc.1570G= (p.Ala524=)
c.1411G= (p.Ala471=)
c.1471G= (p.Ala491=)
19g.18785771C>GCA404883151COMPc.1570G>C (p.Ala524Pro)
c.1411G>C (p.Ala471Pro)
c.1471G>C (p.Ala491Pro)
19g.18785771C>TCA404883152COMPc.1570G>A (p.Ala524Thr)
c.1411G>A (p.Ala471Thr)
c.1471G>A (p.Ala491Thr)
 gnomAD v4
19g.18785772G>ACA506117443COMPc.1569C>T (p.Asn523=)
c.1410C>T (p.Asn470=)
c.1470C>T (p.Asn490=)
19g.18785772G>CCA120167COMPc.1569C>G (p.Asn523Lys)
c.1410C>G (p.Asn470Lys)
c.1470C>G (p.Asn490Lys)
 ClinVar dbSNP
19g.18785772G=CA2326525371COMPc.1569C= (p.Asn523=)
c.1410C= (p.Asn470=)
c.1470C= (p.Asn490=)
19g.18785772G>TCA404883154COMPc.1569C>A (p.Asn523Lys)
c.1410C>A (p.Asn470Lys)
c.1470C>A (p.Asn490Lys)
 ClinVar dbSNP
19g.18785773T>ACA404883159COMPc.1568A>T (p.Asn523Ile)
c.1409A>T (p.Asn470Ile)
c.1469A>T (p.Asn490Ile)
19g.18785773T>CCA9316357COMPc.1568A>G (p.Asn523Ser)
c.1409A>G (p.Asn470Ser)
c.1469A>G (p.Asn490Ser)
 ClinVar dbSNP ExAC
19g.18785773T>GCA404883161COMPc.1568A>C (p.Asn523Thr)
c.1409A>C (p.Asn470Thr)
c.1469A>C (p.Asn490Thr)
19g.18785773T=CA2326525372COMPc.1568A= (p.Asn523=)
c.1409A= (p.Asn470=)
c.1469A= (p.Asn490=)
19g.18785774T>ACA404883164COMPc.1567A>T (p.Asn523Tyr)
c.1408A>T (p.Asn470Tyr)
c.1468A>T (p.Asn490Tyr)
19g.18785774T>CCA404883168COMPc.1567A>G (p.Asn523Asp)
c.1408A>G (p.Asn470Asp)
c.1468A>G (p.Asn490Asp)
19g.18785774T>GCA404883171COMPc.1567A>C (p.Asn523His)
c.1408A>C (p.Asn470His)
c.1468A>C (p.Asn490His)
19g.18785775C>ACA404883175COMPc.1566G>T (p.Glu522Asp)
c.1407G>T (p.Glu469Asp)
c.1467G>T (p.Glu489Asp)
19g.18785775C>GCA404883176COMPc.1566G>C (p.Glu522Asp)
c.1407G>C (p.Glu469Asp)
c.1467G>C (p.Glu489Asp)
19g.18785775C>TCA506117444COMPc.1566G>A (p.Glu522=)
c.1407G>A (p.Glu469=)
c.1467G>A (p.Glu489=)
19g.18785776T>ACA404883179COMPc.1565A>T (p.Glu522Val)
c.1406A>T (p.Glu469Val)
c.1466A>T (p.Glu489Val)
19g.18785776T>CCA404883180COMPc.1565A>G (p.Glu522Gly)
c.1406A>G (p.Glu469Gly)
c.1466A>G (p.Glu489Gly)
19g.18785776T>GCA404883181COMPc.1565A>C (p.Glu522Ala)
c.1406A>C (p.Glu469Ala)
c.1466A>C (p.Glu489Ala)
19g.18785777C>ACA404883182COMPc.1564G>T (p.Glu522Ter)
c.1405G>T (p.Glu469Ter)
c.1465G>T (p.Glu489Ter)
19g.18785777C>GCA404883183COMPc.1564G>C (p.Glu522Gln)
c.1405G>C (p.Glu469Gln)
c.1465G>C (p.Glu489Gln)
19g.18785777C>TCA404883185COMPc.1564G>A (p.Glu522Lys)
c.1405G>A (p.Glu469Lys)
c.1465G>A (p.Glu489Lys)
19g.18785778C>ACA506117445COMPc.1563G>T (p.Pro521=)
c.1404G>T (p.Pro468=)
c.1464G>T (p.Pro488=)
19g.18785778C=CA2326525373COMPc.1563G= (p.Pro521=)
c.1404G= (p.Pro468=)
c.1464G= (p.Pro488=)
19g.18785778C>GCA506117447COMPc.1563G>C (p.Pro521=)
c.1404G>C (p.Pro468=)
c.1464G>C (p.Pro488=)
19g.18785778C>TCA9316358COMPc.1563G>A (p.Pro521=)
c.1404G>A (p.Pro468=)
c.1464G>A (p.Pro488=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785779G>ACA404883191COMPc.1562C>T (p.Pro521Leu)
c.1403C>T (p.Pro468Leu)
c.1463C>T (p.Pro488Leu)
19g.18785779G>CCA306254680COMPc.1562C>G (p.Pro521Arg)
c.1403C>G (p.Pro468Arg)
c.1463C>G (p.Pro488Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785779G=CA2326525374COMPc.1562C= (p.Pro521=)
c.1403C= (p.Pro468=)
c.1463C= (p.Pro488=)
19g.18785779G>TCA404883190COMPc.1562C>A (p.Pro521Gln)
c.1403C>A (p.Pro468Gln)
c.1463C>A (p.Pro488Gln)
 gnomAD v4
19g.18785780G>ACA404883194COMPc.1561C>T (p.Pro521Ser)
c.1402C>T (p.Pro468Ser)
c.1462C>T (p.Pro488Ser)
19g.18785780G>CCA404883196COMPc.1561C>G (p.Pro521Ala)
c.1402C>G (p.Pro468Ala)
c.1462C>G (p.Pro488Ala)
19g.18785780G>TCA404883199COMPc.1561C>A (p.Pro521Thr)
c.1402C>A (p.Pro468Thr)
c.1462C>A (p.Pro488Thr)
19g.18785781A>CCA404883202COMPc.1560T>G (p.Cys520Trp)
c.1401T>G (p.Cys467Trp)
c.1461T>G (p.Cys487Trp)
19g.18785781A>GCA506117450COMPc.1560T>C (p.Cys520=)
c.1401T>C (p.Cys467=)
c.1461T>C (p.Cys487=)
19g.18785781A>TCA404883204COMPc.1560T>A (p.Cys520Ter)
c.1401T>A (p.Cys467Ter)
c.1461T>A (p.Cys487Ter)
19g.18785782C>ACA404883207COMPc.1559G>T (p.Cys520Phe)
c.1400G>T (p.Cys467Phe)
c.1460G>T (p.Cys487Phe)
19g.18785782C>GCA404883210COMPc.1559G>C (p.Cys520Ser)
c.1400G>C (p.Cys467Ser)
c.1460G>C (p.Cys487Ser)
19g.18785782C>TCA404883213COMPc.1559G>A (p.Cys520Tyr)
c.1400G>A (p.Cys467Tyr)
c.1460G>A (p.Cys487Tyr)
19g.18785783A>CCA404883216COMPc.1558T>G (p.Cys520Gly)
c.1399T>G (p.Cys467Gly)
c.1459T>G (p.Cys487Gly)
 gnomAD v4
19g.18785783A>GCA404883218COMPc.1558T>C (p.Cys520Arg)
c.1399T>C (p.Cys467Arg)
c.1459T>C (p.Cys487Arg)
19g.18785783A>TCA404883222COMPc.1558T>A (p.Cys520Ser)
c.1399T>A (p.Cys467Ser)
c.1459T>A (p.Cys487Ser)
19g.18785784C>ACA506117452COMPc.1557G>T (p.Val519=)
c.1398G>T (p.Val466=)
c.1458G>T (p.Val486=)
19g.18785784C>GCA506117453COMPc.1557G>C (p.Val519=)
c.1398G>C (p.Val466=)
c.1458G>C (p.Val486=)
19g.18785784C>TCA506117455COMPc.1557G>A (p.Val519=)
c.1398G>A (p.Val466=)
c.1458G>A (p.Val486=)
19g.18785785A>CCA404883249COMPc.1556T>G (p.Val519Gly)
c.1397T>G (p.Val466Gly)
c.1457T>G (p.Val486Gly)
19g.18785785A>GCA404883251COMPc.1556T>C (p.Val519Ala)
c.1397T>C (p.Val466Ala)
c.1457T>C (p.Val486Ala)
19g.18785785A>TCA404883234COMPc.1556T>A (p.Val519Glu)
c.1397T>A (p.Val466Glu)
c.1457T>A (p.Val486Glu)
19g.18785786C>ACA404883254COMPc.1555G>T (p.Val519Leu)
c.1396G>T (p.Val466Leu)
c.1456G>T (p.Val486Leu)
 gnomAD v4
19g.18785786C=CA2326525375COMPc.1555G= (p.Val519=)
c.1396G= (p.Val466=)
c.1456G= (p.Val486=)
19g.18785786C>GCA404883270COMPc.1555G>C (p.Val519Leu)
c.1396G>C (p.Val466Leu)
c.1456G>C (p.Val486Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.18785786C>TCA9316359COMPc.1555G>A (p.Val519Met)
c.1396G>A (p.Val466Met)
c.1456G>A (p.Val486Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785787G>ACA506117458COMPc.1554C>T (p.Asp518=)
c.1395C>T (p.Asp465=)
c.1455C>T (p.Asp485=)
19g.18785787G>CCA404883272COMPc.1554C>G (p.Asp518Glu)
c.1395C>G (p.Asp465Glu)
c.1455C>G (p.Asp485Glu)
19g.18785787G>TCA404883273COMPc.1554C>A (p.Asp518Glu)
c.1395C>A (p.Asp465Glu)
c.1455C>A (p.Asp485Glu)
19g.18785788T>ACA404883275COMPc.1553A>T (p.Asp518Val)
c.1394A>T (p.Asp465Val)
c.1454A>T (p.Asp485Val)
19g.18785788T>CCA404883276COMPc.1553A>G (p.Asp518Gly)
c.1394A>G (p.Asp465Gly)
c.1454A>G (p.Asp485Gly)
 ClinVar dbSNP
19g.18785788T>GCA404883288COMPc.1553A>C (p.Asp518Ala)
c.1394A>C (p.Asp465Ala)
c.1454A>C (p.Asp485Ala)
19g.18785789C>ACA404883294COMPc.1552G>T (p.Asp518Tyr)
c.1393G>T (p.Asp465Tyr)
c.1453G>T (p.Asp485Tyr)
19g.18785789C=CA2326525376COMPc.1552G= (p.Asp518=)
c.1393G= (p.Asp465=)
c.1453G= (p.Asp485=)
19g.18785789C>GCA404883300COMPc.1552G>C (p.Asp518His)
c.1393G>C (p.Asp465His)
c.1453G>C (p.Asp485His)
 ClinVar dbSNP
19g.18785789C>TCA404883301COMPc.1552G>A (p.Asp518Asn)
c.1393G>A (p.Asp465Asn)
c.1453G>A (p.Asp485Asn)
 ClinVar dbSNP gnomAD v2
19g.18785790G>ACA9316360COMPc.1551C>T (p.Ile517=)
c.1392C>T (p.Ile464=)
c.1452C>T (p.Ile484=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785790G>CCA404883306COMPc.1551C>G (p.Ile517Met)
c.1392C>G (p.Ile464Met)
c.1452C>G (p.Ile484Met)
19g.18785790G=CA2326525377COMPc.1551C= (p.Ile517=)
c.1392C= (p.Ile464=)
c.1452C= (p.Ile484=)
19g.18785790G>TCA506117461COMPc.1551C>A (p.Ile517=)
c.1392C>A (p.Ile464=)
c.1452C>A (p.Ile484=)
19g.18785791A>CCA404883319COMPc.1550T>G (p.Ile517Ser)
c.1391T>G (p.Ile464Ser)
c.1451T>G (p.Ile484Ser)
19g.18785791A>GCA404883316COMPc.1550T>C (p.Ile517Thr)
c.1391T>C (p.Ile464Thr)
c.1451T>C (p.Ile484Thr)
19g.18785791A>TCA404883311COMPc.1550T>A (p.Ile517Asn)
c.1391T>A (p.Ile464Asn)
c.1451T>A (p.Ile484Asn)
19g.18785792T>ACA404883322COMPc.1549A>T (p.Ile517Phe)
c.1390A>T (p.Ile464Phe)
c.1450A>T (p.Ile484Phe)
19g.18785792T>CCA404883325COMPc.1549A>G (p.Ile517Val)
c.1390A>G (p.Ile464Val)
c.1450A>G (p.Ile484Val)
19g.18785792T>GCA404883327COMPc.1549A>C (p.Ile517Leu)
c.1390A>C (p.Ile464Leu)
c.1450A>C (p.Ile484Leu)
19g.18785793C>ACA9316361COMPc.1548G>T (p.Lys516Asn)
c.1389G>T (p.Lys463Asn)
c.1449G>T (p.Lys483Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785793C=CA2326525378COMPc.1548G= (p.Lys516=)
c.1389G= (p.Lys463=)
c.1449G= (p.Lys483=)
19g.18785793C>GCA404883332COMPc.1548G>C (p.Lys516Asn)
c.1389G>C (p.Lys463Asn)
c.1449G>C (p.Lys483Asn)
19g.18785793C>TCA506117465COMPc.1548G>A (p.Lys516=)
c.1389G>A (p.Lys463=)
c.1449G>A (p.Lys483=)
19g.18785800_18785811delCA2695228422COMPc.1537_1548del (p.Val513_Lys516del)
c.1378_1389del (p.Val460_Lys463del)
c.1438_1449del (p.Val480_Lys483del)
19g.18785794T>ACA404883335COMPc.1547A>T (p.Lys516Met)
c.1388A>T (p.Lys463Met)
c.1448A>T (p.Lys483Met)
19g.18785794T>CCA404883338COMPc.1547A>G (p.Lys516Arg)
c.1388A>G (p.Lys463Arg)
c.1448A>G (p.Lys483Arg)
19g.18785794T>GCA404883344COMPc.1547A>C (p.Lys516Thr)
c.1388A>C (p.Lys463Thr)
c.1448A>C (p.Lys483Thr)
19g.18785795T>ACA404883353COMPc.1546A>T (p.Lys516Ter)
c.1387A>T (p.Lys463Ter)
c.1447A>T (p.Lys483Ter)
19g.18785795T>CCA404883354COMPc.1546A>G (p.Lys516Glu)
c.1387A>G (p.Lys463Glu)
c.1447A>G (p.Lys483Glu)
 gnomAD v4
19g.18785795T>GCA404883355COMPc.1546A>C (p.Lys516Gln)
c.1387A>C (p.Lys463Gln)
c.1447A>C (p.Lys483Gln)
19g.18785796G>ACA506117467COMPc.1545C>T (p.Asp515=)
c.1386C>T (p.Asp462=)
c.1446C>T (p.Asp482=)
19g.18785796G>CCA404883356COMPc.1545C>G (p.Asp515Glu)
c.1386C>G (p.Asp462Glu)
c.1446C>G (p.Asp482Glu)
 ClinVar dbSNP
19g.18785796G=CA2326525379COMPc.1545C= (p.Asp515=)
c.1386C= (p.Asp462=)
c.1446C= (p.Asp482=)
19g.18785796G>TCA404883357COMPc.1545C>A (p.Asp515Glu)
c.1386C>A (p.Asp462Glu)
c.1446C>A (p.Asp482Glu)
 ClinVar
19g.18785797T>ACA404883360COMPc.1544A>T (p.Asp515Val)
c.1385A>T (p.Asp462Val)
c.1445A>T (p.Asp482Val)
19g.18785797T>CCA404883365COMPc.1544A>G (p.Asp515Gly)
c.1385A>G (p.Asp462Gly)
c.1445A>G (p.Asp482Gly)
 ClinVar
19g.18785797T>GCA404883362COMPc.1544A>C (p.Asp515Ala)
c.1385A>C (p.Asp462Ala)
c.1445A>C (p.Asp482Ala)
19g.18785798C>ACA404883369COMPc.1543G>T (p.Asp515Tyr)
c.1384G>T (p.Asp462Tyr)
c.1444G>T (p.Asp482Tyr)
19g.18785798C>GCA404883373COMPc.1543G>C (p.Asp515His)
c.1384G>C (p.Asp462His)
c.1444G>C (p.Asp482His)
19g.18785798C>TCA404883371COMPc.1543G>A (p.Asp515Asn)
c.1384G>A (p.Asp462Asn)
c.1444G>A (p.Asp482Asn)
19g.18785799T>ACA506117469COMPc.1542A>T (p.Val514=)
c.1383A>T (p.Val461=)
c.1443A>T (p.Val481=)
19g.18785799T>CCA506117470COMPc.1542A>G (p.Val514=)
c.1383A>G (p.Val461=)
c.1443A>G (p.Val481=)
19g.18785799T>GCA506117471COMPc.1542A>C (p.Val514=)
c.1383A>C (p.Val461=)
c.1443A>C (p.Val481=)
19g.18785800A=CA2326525380COMPc.1541T= (p.Val514=)
c.1382T= (p.Val461=)
c.1442T= (p.Val481=)
19g.18785800A>CCA404883374COMPc.1541T>G (p.Val514Gly)
c.1382T>G (p.Val461Gly)
c.1442T>G (p.Val481Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.18785800A>GCA404883378COMPc.1541T>C (p.Val514Ala)
c.1382T>C (p.Val461Ala)
c.1442T>C (p.Val481Ala)
19g.18785800A>TCA404883375COMPc.1541T>A (p.Val514Glu)
c.1382T>A (p.Val461Glu)
c.1442T>A (p.Val481Glu)
19g.18785801C>ACA404883382COMPc.1540G>T (p.Val514Leu)
c.1381G>T (p.Val461Leu)
c.1441G>T (p.Val481Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.18785801C=CA2326525381COMPc.1540G= (p.Val514=)
c.1381G= (p.Val461=)
c.1441G= (p.Val481=)
19g.18785801C>GCA404883400COMPc.1540G>C (p.Val514Leu)
c.1381G>C (p.Val461Leu)
c.1441G>C (p.Val481Leu)
19g.18785801C>TCA404883384COMPc.1540G>A (p.Val514Ile)
c.1381G>A (p.Val461Ile)
c.1441G>A (p.Val481Ile)
19g.18785802_18785813delCA2695228423COMPc.1529_1540del (p.Ala510_Val513del)
c.1370_1381del (p.Ala457_Val460del)
c.1430_1441del (p.Ala477_Val480del)
19g.18785802C>ACA506117475COMPc.1539G>T (p.Val513=)
c.1380G>T (p.Val460=)
c.1440G>T (p.Val480=)
19g.18785802C>GCA506117472COMPc.1539G>C (p.Val513=)
c.1380G>C (p.Val460=)
c.1440G>C (p.Val480=)
19g.18785802C>TCA506117474COMPc.1539G>A (p.Val513=)
c.1380G>A (p.Val460=)
c.1440G>A (p.Val480=)
19g.18785803A>CCA404883405COMPc.1538T>G (p.Val513Gly)
c.1379T>G (p.Val460Gly)
c.1439T>G (p.Val480Gly)
19g.18785803A>GCA404883417COMPc.1538T>C (p.Val513Ala)
c.1379T>C (p.Val460Ala)
c.1439T>C (p.Val480Ala)
19g.18785803A>TCA404883412COMPc.1538T>A (p.Val513Glu)
c.1379T>A (p.Val460Glu)
c.1439T>A (p.Val480Glu)
19g.18785804C>ACA404883420COMPc.1537G>T (p.Val513Leu)
c.1378G>T (p.Val460Leu)
c.1438G>T (p.Val480Leu)
19g.18785804C>GCA404883422COMPc.1537G>C (p.Val513Leu)
c.1378G>C (p.Val460Leu)
c.1438G>C (p.Val480Leu)
19g.18785804C>TCA404883421COMPc.1537G>A (p.Val513Met)
c.1378G>A (p.Val460Met)
c.1438G>A (p.Val480Met)
19g.18785805C>ACA404883427COMPc.1536G>T (p.Lys512Asn)
c.1377G>T (p.Lys459Asn)
c.1437G>T (p.Lys479Asn)
19g.18785805C=CA2326525382COMPc.1536G= (p.Lys512=)
c.1377G= (p.Lys459=)
c.1437G= (p.Lys479=)
19g.18785805C>GCA404883437COMPc.1536G>C (p.Lys512Asn)
c.1377G>C (p.Lys459Asn)
c.1437G>C (p.Lys479Asn)
19g.18785805C>TCA9316362COMPc.1536G>A (p.Lys512=)
c.1377G>A (p.Lys459=)
c.1437G>A (p.Lys479=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785806T>ACA404883440COMPc.1535A>T (p.Lys512Met)
c.1376A>T (p.Lys459Met)
c.1436A>T (p.Lys479Met)
19g.18785806T>CCA9316363COMPc.1535A>G (p.Lys512Arg)
c.1376A>G (p.Lys459Arg)
c.1436A>G (p.Lys479Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785806T>GCA404883446COMPc.1535A>C (p.Lys512Thr)
c.1376A>C (p.Lys459Thr)
c.1436A>C (p.Lys479Thr)
19g.18785806T=CA2326525383COMPc.1535A= (p.Lys512=)
c.1376A= (p.Lys459=)
c.1436A= (p.Lys479=)
19g.18785807T>ACA404883449COMPc.1534A>T (p.Lys512Ter)
c.1375A>T (p.Lys459Ter)
c.1435A>T (p.Lys479Ter)
19g.18785807T>CCA404883452COMPc.1534A>G (p.Lys512Glu)
c.1375A>G (p.Lys459Glu)
c.1435A>G (p.Lys479Glu)
19g.18785807T>GCA9316364COMPc.1534A>C (p.Lys512Gln)
c.1375A>C (p.Lys459Gln)
c.1435A>C (p.Lys479Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785807T=CA2326525384COMPc.1534A= (p.Lys512=)
c.1375A= (p.Lys459=)
c.1435A= (p.Lys479=)
19g.18785808G>ACA506117480COMPc.1533C>T (p.Asp511=)
c.1374C>T (p.Asp458=)
c.1434C>T (p.Asp478=)
19g.18785808G>CCA16620813COMPc.1533C>G (p.Asp511Glu)
c.1374C>G (p.Asp458Glu)
c.1434C>G (p.Asp478Glu)
 ClinVar dbSNP
19g.18785808G=CA2326525385COMPc.1533C= (p.Asp511=)
c.1374C= (p.Asp458=)
c.1434C= (p.Asp478=)
19g.18785808G>TCA404883483COMPc.1533C>A (p.Asp511Glu)
c.1374C>A (p.Asp458Glu)
c.1434C>A (p.Asp478Glu)
19g.18785809T>ACA404883494COMPc.1532A>T (p.Asp511Val)
c.1373A>T (p.Asp458Val)
c.1433A>T (p.Asp478Val)
 ClinVar dbSNP
19g.18785809T>CCA404883495COMPc.1532A>G (p.Asp511Gly)
c.1373A>G (p.Asp458Gly)
c.1433A>G (p.Asp478Gly)
19g.18785809T>GCA404883498COMPc.1532A>C (p.Asp511Ala)
c.1373A>C (p.Asp458Ala)
c.1433A>C (p.Asp478Ala)
19g.18785809T=CA2326525386COMPc.1532A= (p.Asp511=)
c.1373A= (p.Asp458=)
c.1433A= (p.Asp478=)
19g.18785810C>ACA404883512COMPc.1531G>T (p.Asp511Tyr)
c.1372G>T (p.Asp458Tyr)
c.1432G>T (p.Asp478Tyr)
19g.18785810C>GCA404883516COMPc.1531G>C (p.Asp511His)
c.1372G>C (p.Asp458His)
c.1432G>C (p.Asp478His)
19g.18785810C>TCA404883514COMPc.1531G>A (p.Asp511Asn)
c.1372G>A (p.Asp458Asn)
c.1432G>A (p.Asp478Asn)
19g.18785811T>ACA506117481COMPc.1530A>T (p.Ala510=)
c.1371A>T (p.Ala457=)
c.1431A>T (p.Ala477=)
19g.18785811T>CCA506117483COMPc.1530A>G (p.Ala510=)
c.1371A>G (p.Ala457=)
c.1431A>G (p.Ala477=)
19g.18785811T>GCA506117484COMPc.1530A>C (p.Ala510=)
c.1371A>C (p.Ala457=)
c.1431A>C (p.Ala477=)
19g.18785812G>ACA404883520COMPc.1529C>T (p.Ala510Val)
c.1370C>T (p.Ala457Val)
c.1430C>T (p.Ala477Val)
 dbSNP gnomAD v2
19g.18785812G>CCA404883522COMPc.1529C>G (p.Ala510Gly)
c.1370C>G (p.Ala457Gly)
c.1430C>G (p.Ala477Gly)
19g.18785812G=CA2326525387COMPc.1529C= (p.Ala510=)
c.1370C= (p.Ala457=)
c.1430C= (p.Ala477=)
19g.18785812G>TCA404883526COMPc.1529C>A (p.Ala510Glu)
c.1370C>A (p.Ala457Glu)
c.1430C>A (p.Ala477Glu)
19g.18785812_18785814delCA2580096751COMPc.1527_1529del (p.Asp509_Ala510delinsGlu)
c.1368_1370del (p.Asp456_Ala457delinsGlu)
c.1428_1430del (p.Asp476_Ala477delinsGlu)
 ClinVar
19g.18785813C>ACA404883529COMPc.1528G>T (p.Ala510Ser)
c.1369G>T (p.Ala457Ser)
c.1429G>T (p.Ala477Ser)
19g.18785813C>GCA404883534COMPc.1528G>C (p.Ala510Pro)
c.1369G>C (p.Ala457Pro)
c.1429G>C (p.Ala477Pro)
19g.18785813C>TCA404883537COMPc.1528G>A (p.Ala510Thr)
c.1369G>A (p.Ala457Thr)
c.1429G>A (p.Ala477Thr)
19g.18785814A=CA2326525388COMPc.1527T= (p.Asp509=)
c.1368T= (p.Asp456=)
c.1428T= (p.Asp476=)
19g.18785814A>CCA404883542COMPc.1527T>G (p.Asp509Glu)
c.1368T>G (p.Asp456Glu)
c.1428T>G (p.Asp476Glu)
19g.18785814A>GCA9316365COMPc.1527T>C (p.Asp509=)
c.1368T>C (p.Asp456=)
c.1428T>C (p.Asp476=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785814A>TCA404883548COMPc.1527T>A (p.Asp509Glu)
c.1368T>A (p.Asp456Glu)
c.1428T>A (p.Asp476Glu)
 ClinVar
19g.18785815delCA2583621879COMPc.1526del (p.Asp509ValfsTer6)
c.1367del (p.Asp456ValfsTer6)
c.1427del (p.Asp476ValfsTer6)
 gnomAD v4
19g.18785815T>ACA404883554COMPc.1526A>T (p.Asp509Val)
c.1367A>T (p.Asp456Val)
c.1427A>T (p.Asp476Val)
 ClinVar dbSNP
19g.18785815T>CCA404883555COMPc.1526A>G (p.Asp509Gly)
c.1367A>G (p.Asp456Gly)
c.1427A>G (p.Asp476Gly)
 ClinVar
19g.18785815T>GCA404883552COMPc.1526A>C (p.Asp509Ala)
c.1367A>C (p.Asp456Ala)
c.1427A>C (p.Asp476Ala)
19g.18785816C>ACA404883558COMPc.1525G>T (p.Asp509Tyr)
c.1366G>T (p.Asp456Tyr)
c.1426G>T (p.Asp476Tyr)
 gnomAD v4
19g.18785816C>GCA404883567COMPc.1525G>C (p.Asp509His)
c.1366G>C (p.Asp456His)
c.1426G>C (p.Asp476His)
19g.18785816C>TCA404883570COMPc.1525G>A (p.Asp509Asn)
c.1366G>A (p.Asp456Asn)
c.1426G>A (p.Asp476Asn)
19g.18785817A=CA2326525389COMPc.1524T= (p.Phe508=)
c.1365T= (p.Phe455=)
c.1425T= (p.Phe475=)
19g.18785817A>CCA404883575COMPc.1524T>G (p.Phe508Leu)
c.1365T>G (p.Phe455Leu)
c.1425T>G (p.Phe475Leu)
19g.18785817A>GCA506117489COMPc.1524T>C (p.Phe508=)
c.1365T>C (p.Phe455=)
c.1425T>C (p.Phe475=)
 gnomAD v4
19g.18785817A>TCA9316366COMPc.1524T>A (p.Phe508Leu)
c.1365T>A (p.Phe455Leu)
c.1425T>A (p.Phe475Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched