Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18785715C>A | CA404882524 | COMP | c.1626G>T (p.Glu542Asp) c.1467G>T (p.Glu489Asp) c.1527G>T (p.Glu509Asp) | |
19 | g.18785715C>G | CA404882527 | COMP | c.1626G>C (p.Glu542Asp) c.1467G>C (p.Glu489Asp) c.1527G>C (p.Glu509Asp) | |
19 | g.18785715C>T | CA506117333 | COMP | c.1626G>A (p.Glu542=) c.1467G>A (p.Glu489=) c.1527G>A (p.Glu509=) | gnomAD v4 |
19 | g.18785716T>A | CA404882532 | COMP | c.1625A>T (p.Glu542Val) c.1466A>T (p.Glu489Val) c.1526A>T (p.Glu509Val) | |
19 | g.18785716T>C | CA404882535 | COMP | c.1625A>G (p.Glu542Gly) c.1466A>G (p.Glu489Gly) c.1526A>G (p.Glu509Gly) | |
19 | g.18785716T>G | CA404882547 | COMP | c.1625A>C (p.Glu542Ala) c.1466A>C (p.Glu489Ala) c.1526A>C (p.Glu509Ala) | dbSNP |
19 | g.18785716T= | CA2326525339 | COMP | c.1625A= (p.Glu542=) c.1466A= (p.Glu489=) c.1526A= (p.Glu509=) | |
19 | g.18785717C>A | CA404882552 | COMP | c.1624G>T (p.Glu542Ter) c.1465G>T (p.Glu489Ter) c.1525G>T (p.Glu509Ter) | |
19 | g.18785717C>G | CA404882554 | COMP | c.1624G>C (p.Glu542Gln) c.1465G>C (p.Glu489Gln) c.1525G>C (p.Glu509Gln) | |
19 | g.18785717C>T | CA404882555 | COMP | c.1624G>A (p.Glu542Lys) c.1465G>A (p.Glu489Lys) c.1525G>A (p.Glu509Lys) | |
19 | g.18785718C>A | CA506117336 | COMP | c.1623G>T (p.Pro541=) c.1464G>T (p.Pro488=) c.1524G>T (p.Pro508=) | |
19 | g.18785718C>G | CA506117337 | COMP | c.1623G>C (p.Pro541=) c.1464G>C (p.Pro488=) c.1524G>C (p.Pro508=) | gnomAD v4 |
19 | g.18785718C>T | CA506117338 | COMP | c.1623G>A (p.Pro541=) c.1464G>A (p.Pro488=) c.1524G>A (p.Pro508=) | gnomAD v4 |
19 | g.18785719G>A | CA404882561 | COMP | c.1622C>T (p.Pro541Leu) c.1463C>T (p.Pro488Leu) c.1523C>T (p.Pro508Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785719G>C | CA404882566 | COMP | c.1622C>G (p.Pro541Arg) c.1463C>G (p.Pro488Arg) c.1523C>G (p.Pro508Arg) | |
19 | g.18785719G= | CA2326525340 | COMP | c.1622C= (p.Pro541=) c.1463C= (p.Pro488=) c.1523C= (p.Pro508=) | |
19 | g.18785719G>T | CA404882557 | COMP | c.1622C>A (p.Pro541Gln) c.1463C>A (p.Pro488Gln) c.1523C>A (p.Pro508Gln) | gnomAD v4 |
19 | g.18785720G>A | CA404882570 | COMP | c.1621C>T (p.Pro541Ser) c.1462C>T (p.Pro488Ser) c.1522C>T (p.Pro508Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18785720G>C | CA404882579 | COMP | c.1621C>G (p.Pro541Ala) c.1462C>G (p.Pro488Ala) c.1522C>G (p.Pro508Ala) | ClinVar dbSNP |
19 | g.18785720G= | CA2326525341 | COMP | c.1621C= (p.Pro541=) c.1462C= (p.Pro488=) c.1522C= (p.Pro508=) | |
19 | g.18785720G>T | CA404882577 | COMP | c.1621C>A (p.Pro541Thr) c.1462C>A (p.Pro488Thr) c.1522C>A (p.Pro508Thr) | |
19 | g.18785721G>A | CA506117343 | COMP | c.1620C>T (p.Asp540=) c.1461C>T (p.Asp487=) c.1521C>T (p.Asp507=) | dbSNP gnomAD v2 |
19 | g.18785721G>C | CA404882581 | COMP | c.1620C>G (p.Asp540Glu) c.1461C>G (p.Asp487Glu) c.1521C>G (p.Asp507Glu) | |
19 | g.18785721G= | CA2326525342 | COMP | c.1620C= (p.Asp540=) c.1461C= (p.Asp487=) c.1521C= (p.Asp507=) | |
19 | g.18785721G>T | CA404882583 | COMP | c.1620C>A (p.Asp540Glu) c.1461C>A (p.Asp487Glu) c.1521C>A (p.Asp507Glu) | |
19 | g.18785722T>A | CA9316345 | COMP | c.1619A>T (p.Asp540Val) c.1460A>T (p.Asp487Val) c.1520A>T (p.Asp507Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785722T>C | CA404882593 | COMP | c.1619A>G (p.Asp540Gly) c.1460A>G (p.Asp487Gly) c.1520A>G (p.Asp507Gly) | |
19 | g.18785722T>G | CA404882628 | COMP | c.1619A>C (p.Asp540Ala) c.1460A>C (p.Asp487Ala) c.1520A>C (p.Asp507Ala) | dbSNP |
19 | g.18785722T= | CA2326525343 | COMP | c.1619A= (p.Asp540=) c.1460A= (p.Asp487=) c.1520A= (p.Asp507=) | |
19 | g.18785723C>A | CA9316346 | COMP | c.1618G>T (p.Asp540Tyr) c.1459G>T (p.Asp487Tyr) c.1519G>T (p.Asp507Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785723C= | CA2326525344 | COMP | c.1618G= (p.Asp540=) c.1459G= (p.Asp487=) c.1519G= (p.Asp507=) | |
19 | g.18785723C>G | CA404882649 | COMP | c.1618G>C (p.Asp540His) c.1459G>C (p.Asp487His) c.1519G>C (p.Asp507His) | |
19 | g.18785723C>T | CA404882652 | COMP | c.1618G>A (p.Asp540Asn) c.1459G>A (p.Asp487Asn) c.1519G>A (p.Asp507Asn) | gnomAD v4 |
19 | g.18785724C>A | CA506117346 | COMP | c.1617G>T (p.Leu539=) c.1458G>T (p.Leu486=) c.1518G>T (p.Leu506=) | |
19 | g.18785724C= | CA2326525345 | COMP | c.1617G= (p.Leu539=) c.1458G= (p.Leu486=) c.1518G= (p.Leu506=) | |
19 | g.18785724C>G | CA506117347 | COMP | c.1617G>C (p.Leu539=) c.1458G>C (p.Leu486=) c.1518G>C (p.Leu506=) | |
19 | g.18785724C>T | CA9316347 | COMP | c.1617G>A (p.Leu539=) c.1458G>A (p.Leu486=) c.1518G>A (p.Leu506=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.18785725A>C | CA404882665 | COMP | c.1616T>G (p.Leu539Arg) c.1457T>G (p.Leu486Arg) c.1517T>G (p.Leu506Arg) | |
19 | g.18785725A>G | CA404882667 | COMP | c.1616T>C (p.Leu539Pro) c.1457T>C (p.Leu486Pro) c.1517T>C (p.Leu506Pro) | |
19 | g.18785725A>T | CA404882671 | COMP | c.1616T>A (p.Leu539Gln) c.1457T>A (p.Leu486Gln) c.1517T>A (p.Leu506Gln) | |
19 | g.18785726G>A | CA506117353 | COMP | c.1615C>T (p.Leu539=) c.1456C>T (p.Leu486=) c.1516C>T (p.Leu506=) | |
19 | g.18785726G>C | CA404882674 | COMP | c.1615C>G (p.Leu539Val) c.1456C>G (p.Leu486Val) c.1516C>G (p.Leu506Val) | |
19 | g.18785726G>T | CA404882678 | COMP | c.1615C>A (p.Leu539Met) c.1456C>A (p.Leu486Met) c.1516C>A (p.Leu506Met) | |
19 | g.18785727C>A | CA506117354 | COMP | c.1614G>T (p.Val538=) c.1455G>T (p.Val485=) c.1515G>T (p.Val505=) | |
19 | g.18785727C= | CA2326525346 | COMP | c.1614G= (p.Val538=) c.1455G= (p.Val485=) c.1515G= (p.Val505=) | |
19 | g.18785727C>G | CA9316348 | COMP | c.1614G>C (p.Val538=) c.1455G>C (p.Val485=) c.1515G>C (p.Val505=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785727C>T | CA506117357 | COMP | c.1614G>A (p.Val538=) c.1455G>A (p.Val485=) c.1515G>A (p.Val505=) | |
19 | g.18785728A>C | CA404882684 | COMP | c.1613T>G (p.Val538Gly) c.1454T>G (p.Val485Gly) c.1514T>G (p.Val505Gly) | |
19 | g.18785728A>G | CA404882688 | COMP | c.1613T>C (p.Val538Ala) c.1454T>C (p.Val485Ala) c.1514T>C (p.Val505Ala) | gnomAD v4 |
19 | g.18785728A>T | CA404882698 | COMP | c.1613T>A (p.Val538Glu) c.1454T>A (p.Val485Glu) c.1514T>A (p.Val505Glu) | |
19 | g.18785729C>A | CA404882702 | COMP | c.1612G>T (p.Val538Leu) c.1453G>T (p.Val485Leu) c.1513G>T (p.Val505Leu) | gnomAD v4 |
19 | g.18785729C>G | CA404882706 | COMP | c.1612G>C (p.Val538Leu) c.1453G>C (p.Val485Leu) c.1513G>C (p.Val505Leu) | gnomAD v4 |
19 | g.18785729C>T | CA404882709 | COMP | c.1612G>A (p.Val538Met) c.1453G>A (p.Val485Met) c.1513G>A (p.Val505Met) | |
19 | g.18785730G>A | CA506117362 | COMP | c.1611C>T (p.Val537=) c.1452C>T (p.Val484=) c.1512C>T (p.Val504=) | gnomAD v4 |
19 | g.18785730G>C | CA506117364 | COMP | c.1611C>G (p.Val537=) c.1452C>G (p.Val484=) c.1512C>G (p.Val504=) | |
19 | g.18785730G>T | CA506117367 | COMP | c.1611C>A (p.Val537=) c.1452C>A (p.Val484=) c.1512C>A (p.Val504=) | gnomAD v4 COSMIC |
19 | g.18785731A= | CA2326525347 | COMP | c.1610T= (p.Val537=) c.1451T= (p.Val484=) c.1511T= (p.Val504=) | |
19 | g.18785731A>C | CA404882714 | COMP | c.1610T>G (p.Val537Gly) c.1451T>G (p.Val484Gly) c.1511T>G (p.Val504Gly) | |
19 | g.18785731A>G | CA404882722 | COMP | c.1610T>C (p.Val537Ala) c.1451T>C (p.Val484Ala) c.1511T>C (p.Val504Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785731A>T | CA404882726 | COMP | c.1610T>A (p.Val537Asp) c.1451T>A (p.Val484Asp) c.1511T>A (p.Val504Asp) | |
19 | g.18785732C>A | CA404882733 | COMP | c.1609G>T (p.Val537Phe) c.1450G>T (p.Val484Phe) c.1510G>T (p.Val504Phe) | |
19 | g.18785732C= | CA2326525348 | COMP | c.1609G= (p.Val537=) c.1450G= (p.Val484=) c.1510G= (p.Val504=) | |
19 | g.18785732C>G | CA404882748 | COMP | c.1609G>C (p.Val537Leu) c.1450G>C (p.Val484Leu) c.1510G>C (p.Val504Leu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18785732C>T | CA404882730 | COMP | c.1609G>A (p.Val537Ile) c.1450G>A (p.Val484Ile) c.1510G>A (p.Val504Ile) | gnomAD v4 |
19 | g.18785733T>A | CA506117371 | COMP | c.1608A>T (p.Thr536=) c.1449A>T (p.Thr483=) c.1509A>T (p.Thr503=) | |
19 | g.18785733T>C | CA506117373 | COMP | c.1608A>G (p.Thr536=) c.1449A>G (p.Thr483=) c.1509A>G (p.Thr503=) | gnomAD v4 |
19 | g.18785733T>G | CA506117372 | COMP | c.1608A>C (p.Thr536=) c.1449A>C (p.Thr483=) c.1509A>C (p.Thr503=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18785733T= | CA2326525349 | COMP | c.1608A= (p.Thr536=) c.1449A= (p.Thr483=) c.1509A= (p.Thr503=) | |
19 | g.18785734G>A | CA9316349 | COMP | c.1607C>T (p.Thr536Ile) c.1448C>T (p.Thr483Ile) c.1508C>T (p.Thr503Ile) | dbSNP ExAC gnomAD v2 |
19 | g.18785734G>C | CA404882756 | COMP | c.1607C>G (p.Thr536Arg) c.1448C>G (p.Thr483Arg) c.1508C>G (p.Thr503Arg) | |
19 | g.18785734G= | CA2326525350 | COMP | c.1607C= (p.Thr536=) c.1448C= (p.Thr483=) c.1508C= (p.Thr503=) | |
19 | g.18785734G>T | CA404882762 | COMP | c.1607C>A (p.Thr536Lys) c.1448C>A (p.Thr483Lys) c.1508C>A (p.Thr503Lys) | |
19 | g.18785735T>A | CA404882765 | COMP | c.1606A>T (p.Thr536Ser) c.1447A>T (p.Thr483Ser) c.1507A>T (p.Thr503Ser) | |
19 | g.18785735T>C | CA404882769 | COMP | c.1606A>G (p.Thr536Ala) c.1447A>G (p.Thr483Ala) c.1507A>G (p.Thr503Ala) | |
19 | g.18785735T>G | CA404882771 | COMP | c.1606A>C (p.Thr536Pro) c.1447A>C (p.Thr483Pro) c.1507A>C (p.Thr503Pro) | |
19 | g.18785736C>A | CA404882772 | COMP | c.1605G>T (p.Gln535His) c.1446G>T (p.Gln482His) c.1506G>T (p.Gln502His) | |
19 | g.18785736C= | CA2326525351 | COMP | c.1605G= (p.Gln535=) c.1446G= (p.Gln482=) c.1506G= (p.Gln502=) | |
19 | g.18785736C>G | CA404882773 | COMP | c.1605G>C (p.Gln535His) c.1446G>C (p.Gln482His) c.1506G>C (p.Gln502His) | dbSNP |
19 | g.18785736C>T | CA506117377 | COMP | c.1605G>A (p.Gln535=) c.1446G>A (p.Gln482=) c.1506G>A (p.Gln502=) | |
19 | g.18785737T>A | CA404882778 | COMP | c.1604A>T (p.Gln535Leu) c.1445A>T (p.Gln482Leu) c.1505A>T (p.Gln502Leu) | |
19 | g.18785737T>C | CA306254611 | COMP | c.1604A>G (p.Gln535Arg) c.1445A>G (p.Gln482Arg) c.1505A>G (p.Gln502Arg) | dbSNP |
19 | g.18785737T>G | CA404882817 | COMP | c.1604A>C (p.Gln535Pro) c.1445A>C (p.Gln482Pro) c.1505A>C (p.Gln502Pro) | |
19 | g.18785737T= | CA2326525352 | COMP | c.1604A= (p.Gln535=) c.1445A= (p.Gln482=) c.1505A= (p.Gln502=) | |
19 | g.18785738G>A | CA404882846 | COMP | c.1603C>T (p.Gln535Ter) c.1444C>T (p.Gln482Ter) c.1504C>T (p.Gln502Ter) | |
19 | g.18785738G>C | CA404882851 | COMP | c.1603C>G (p.Gln535Glu) c.1444C>G (p.Gln482Glu) c.1504C>G (p.Gln502Glu) | |
19 | g.18785738G>T | CA404882839 | COMP | c.1603C>A (p.Gln535Lys) c.1444C>A (p.Gln482Lys) c.1504C>A (p.Gln502Lys) | |
19 | g.18785739G>A | CA506117379 | COMP | c.1602C>T (p.Phe534=) c.1443C>T (p.Phe481=) c.1503C>T (p.Phe501=) | gnomAD v4 |
19 | g.18785739G>C | CA404882856 | COMP | c.1602C>G (p.Phe534Leu) c.1443C>G (p.Phe481Leu) c.1503C>G (p.Phe501Leu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18785739G= | CA2326525353 | COMP | c.1602C= (p.Phe534=) c.1443C= (p.Phe481=) c.1503C= (p.Phe501=) | |
19 | g.18785739G>T | CA404882873 | COMP | c.1602C>A (p.Phe534Leu) c.1443C>A (p.Phe481Leu) c.1503C>A (p.Phe501Leu) | |
19 | g.18785740A>C | CA404882880 | COMP | c.1601T>G (p.Phe534Cys) c.1442T>G (p.Phe481Cys) c.1502T>G (p.Phe501Cys) | |
19 | g.18785740A>G | CA404882888 | COMP | c.1601T>C (p.Phe534Ser) c.1442T>C (p.Phe481Ser) c.1502T>C (p.Phe501Ser) | |
19 | g.18785740A>T | CA404882897 | COMP | c.1601T>A (p.Phe534Tyr) c.1442T>A (p.Phe481Tyr) c.1502T>A (p.Phe501Tyr) | |
19 | g.18785741A= | CA2326525354 | COMP | c.1600T= (p.Phe534=) c.1441T= (p.Phe481=) c.1501T= (p.Phe501=) | |
19 | g.18785741A>C | CA404882924 | COMP | c.1600T>G (p.Phe534Val) c.1441T>G (p.Phe481Val) c.1501T>G (p.Phe501Val) | |
19 | g.18785741A>G | CA404882902 | COMP | c.1600T>C (p.Phe534Leu) c.1441T>C (p.Phe481Leu) c.1501T>C (p.Phe501Leu) | |
19 | g.18785741A>T | CA306254613 | COMP | c.1600T>A (p.Phe534Ile) c.1441T>A (p.Phe481Ile) c.1501T>A (p.Phe501Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785742G>A | CA506117386 | COMP | c.1599C>T (p.Ala533=) c.1440C>T (p.Ala480=) c.1500C>T (p.Ala500=) | gnomAD v4 |
19 | g.18785742G>C | CA506117387 | COMP | c.1599C>G (p.Ala533=) c.1440C>G (p.Ala480=) c.1500C>G (p.Ala500=) | |
19 | g.18785742G>T | CA506117388 | COMP | c.1599C>A (p.Ala533=) c.1440C>A (p.Ala480=) c.1500C>A (p.Ala500=) | |
19 | g.18785743G>A | CA404882939 | COMP | c.1598C>T (p.Ala533Val) c.1439C>T (p.Ala480Val) c.1499C>T (p.Ala500Val) | |
19 | g.18785743G>C | CA404882942 | COMP | c.1598C>G (p.Ala533Gly) c.1439C>G (p.Ala480Gly) c.1499C>G (p.Ala500Gly) | |
19 | g.18785743G>T | CA404882944 | COMP | c.1598C>A (p.Ala533Asp) c.1439C>A (p.Ala480Asp) c.1499C>A (p.Ala500Asp) | gnomAD v4 |
19 | g.18785744C>A | CA404882947 | COMP | c.1597G>T (p.Ala533Ser) c.1438G>T (p.Ala480Ser) c.1498G>T (p.Ala500Ser) | |
19 | g.18785744C= | CA2326525355 | COMP | c.1597G= (p.Ala533=) c.1438G= (p.Ala480=) c.1498G= (p.Ala500=) | |
19 | g.18785744C>G | CA404882957 | COMP | c.1597G>C (p.Ala533Pro) c.1438G>C (p.Ala480Pro) c.1498G>C (p.Ala500Pro) | |
19 | g.18785744C>T | CA9316350 | COMP | c.1597G>A (p.Ala533Thr) c.1438G>A (p.Ala480Thr) c.1498G>A (p.Ala500Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785745C>A | CA404882970 | COMP | c.1596G>T (p.Arg532Ser) c.1437G>T (p.Arg479Ser) c.1497G>T (p.Arg499Ser) | |
19 | g.18785745C>G | CA404882966 | COMP | c.1596G>C (p.Arg532Ser) c.1437G>C (p.Arg479Ser) c.1497G>C (p.Arg499Ser) | |
19 | g.18785745C>T | CA506117393 | COMP | c.1596G>A (p.Arg532=) c.1437G>A (p.Arg479=) c.1497G>A (p.Arg499=) | |
19 | g.18785746C>A | CA404882974 | COMP | c.1595G>T (p.Arg532Met) c.1436G>T (p.Arg479Met) c.1496G>T (p.Arg499Met) | |
19 | g.18785746C>G | CA404882981 | COMP | c.1595G>C (p.Arg532Thr) c.1436G>C (p.Arg479Thr) c.1496G>C (p.Arg499Thr) | |
19 | g.18785746C>T | CA404882979 | COMP | c.1595G>A (p.Arg532Lys) c.1436G>A (p.Arg479Lys) c.1496G>A (p.Arg499Lys) | |
19 | g.18785747T>A | CA404882982 | COMP | c.1594A>T (p.Arg532Trp) c.1435A>T (p.Arg479Trp) c.1495A>T (p.Arg499Trp) | |
19 | g.18785747T>C | CA404882983 | COMP | c.1594A>G (p.Arg532Gly) c.1435A>G (p.Arg479Gly) c.1495A>G (p.Arg499Gly) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18785747T>G | CA506117398 | COMP | c.1594A>C (p.Arg532=) c.1435A>C (p.Arg479=) c.1495A>C (p.Arg499=) | dbSNP |
19 | g.18785747T= | CA2326525356 | COMP | c.1594A= (p.Arg532=) c.1435A= (p.Arg479=) c.1495A= (p.Arg499=) | |
19 | g.18785748G>A | CA506117399 | COMP | c.1593C>T (p.Phe531=) c.1434C>T (p.Phe478=) c.1494C>T (p.Phe498=) | COSMIC |
19 | g.18785748G>C | CA404882987 | COMP | c.1593C>G (p.Phe531Leu) c.1434C>G (p.Phe478Leu) c.1494C>G (p.Phe498Leu) | ClinVar |
19 | g.18785748G>T | CA404882991 | COMP | c.1593C>A (p.Phe531Leu) c.1434C>A (p.Phe478Leu) c.1494C>A (p.Phe498Leu) | |
19 | g.18785749A>C | CA404882994 | COMP | c.1592T>G (p.Phe531Cys) c.1433T>G (p.Phe478Cys) c.1493T>G (p.Phe498Cys) | |
19 | g.18785749A>G | CA404882998 | COMP | c.1592T>C (p.Phe531Ser) c.1433T>C (p.Phe478Ser) c.1493T>C (p.Phe498Ser) | |
19 | g.18785749A>T | CA404883002 | COMP | c.1592T>A (p.Phe531Tyr) c.1433T>A (p.Phe478Tyr) c.1493T>A (p.Phe498Tyr) | |
19 | g.18785750A>C | CA404883015 | COMP | c.1591T>G (p.Phe531Val) c.1432T>G (p.Phe478Val) c.1492T>G (p.Phe498Val) | |
19 | g.18785750A>G | CA404883006 | COMP | c.1591T>C (p.Phe531Leu) c.1432T>C (p.Phe478Leu) c.1492T>C (p.Phe498Leu) | |
19 | g.18785750A>T | CA404883010 | COMP | c.1591T>A (p.Phe531Ile) c.1432T>A (p.Phe478Ile) c.1492T>A (p.Phe498Ile) | |
19 | g.18785751G>A | CA506117409 | COMP | c.1590C>T (p.Asp530=) c.1431C>T (p.Asp477=) c.1491C>T (p.Asp497=) | ClinVar |
19 | g.18785751G>C | CA404883017 | COMP | c.1590C>G (p.Asp530Glu) c.1431C>G (p.Asp477Glu) c.1491C>G (p.Asp497Glu) | |
19 | g.18785751G= | CA2326525357 | COMP | c.1590C= (p.Asp530=) c.1431C= (p.Asp477=) c.1491C= (p.Asp497=) | |
19 | g.18785751G>T | CA9316351 | COMP | c.1590C>A (p.Asp530Glu) c.1431C>A (p.Asp477Glu) c.1491C>A (p.Asp497Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785752T>A | CA404883026 | COMP | c.1589A>T (p.Asp530Val) c.1430A>T (p.Asp477Val) c.1490A>T (p.Asp497Val) | |
19 | g.18785752T>C | CA9316352 | COMP | c.1589A>G (p.Asp530Gly) c.1430A>G (p.Asp477Gly) c.1490A>G (p.Asp497Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785752T>G | CA404883031 | COMP | c.1589A>C (p.Asp530Ala) c.1430A>C (p.Asp477Ala) c.1490A>C (p.Asp497Ala) | |
19 | g.18785752T= | CA2326525358 | COMP | c.1589A= (p.Asp530=) c.1430A= (p.Asp477=) c.1490A= (p.Asp497=) | |
19 | g.18785753C>A | CA404883034 | COMP | c.1588G>T (p.Asp530Tyr) c.1429G>T (p.Asp477Tyr) c.1489G>T (p.Asp497Tyr) | |
19 | g.18785753C= | CA2326525359 | COMP | c.1588G= (p.Asp530=) c.1429G= (p.Asp477=) c.1489G= (p.Asp497=) | |
19 | g.18785753C>G | CA404883036 | COMP | c.1588G>C (p.Asp530His) c.1429G>C (p.Asp477His) c.1489G>C (p.Asp497His) | |
19 | g.18785753C>T | CA9316353 | COMP | c.1588G>A (p.Asp530Asn) c.1429G>A (p.Asp477Asn) c.1489G>A (p.Asp497Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.18785754G>A | CA306254642 | COMP | c.1587C>T (p.Thr529=) c.1428C>T (p.Thr476=) c.1488C>T (p.Thr496=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785754G>C | CA506117414 | COMP | c.1587C>G (p.Thr529=) c.1428C>G (p.Thr476=) c.1488C>G (p.Thr496=) | |
19 | g.18785754G= | CA2326525360 | COMP | c.1587C= (p.Thr529=) c.1428C= (p.Thr476=) c.1488C= (p.Thr496=) | |
19 | g.18785754G>T | CA506117415 | COMP | c.1587C>A (p.Thr529=) c.1428C>A (p.Thr476=) c.1488C>A (p.Thr496=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18785755G>A | CA343855 | COMP | c.1586C>T (p.Thr529Ile) c.1427C>T (p.Thr476Ile) c.1487C>T (p.Thr496Ile) | ClinVar dbSNP |
19 | g.18785755G>C | CA404883039 | COMP | c.1586C>G (p.Thr529Ser) c.1427C>G (p.Thr476Ser) c.1487C>G (p.Thr496Ser) | |
19 | g.18785755G= | CA2326525361 | COMP | c.1586C= (p.Thr529=) c.1427C= (p.Thr476=) c.1487C= (p.Thr496=) | |
19 | g.18785755G>T | CA404883043 | COMP | c.1586C>A (p.Thr529Asn) c.1427C>A (p.Thr476Asn) c.1487C>A (p.Thr496Asn) | |
19 | g.18785759_18785764del | CA2573156199 | COMP | c.1581_1586del (p.Leu528_Thr529del) c.1422_1427del (p.Leu475_Thr476del) c.1482_1487del (p.Leu495_Thr496del) | ClinVar dbSNP |
19 | g.18785756T>A | CA404883049 | COMP | c.1585A>T (p.Thr529Ser) c.1426A>T (p.Thr476Ser) c.1486A>T (p.Thr496Ser) | |
19 | g.18785756T>C | CA404883051 | COMP | c.1585A>G (p.Thr529Ala) c.1426A>G (p.Thr476Ala) c.1486A>G (p.Thr496Ala) | |
19 | g.18785756T>G | CA404883055 | COMP | c.1585A>C (p.Thr529Pro) c.1426A>C (p.Thr476Pro) c.1486A>C (p.Thr496Pro) | |
19 | g.18785757G>A | CA9316354 | COMP | c.1584C>T (p.Leu528=) c.1425C>T (p.Leu475=) c.1485C>T (p.Leu495=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.18785757G>C | CA9316355 | COMP | c.1584C>G (p.Leu528=) c.1425C>G (p.Leu475=) c.1485C>G (p.Leu495=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785757G= | CA2326525362 | COMP | c.1584C= (p.Leu528=) c.1425C= (p.Leu475=) c.1485C= (p.Leu495=) | |
19 | g.18785757G>T | CA506117420 | COMP | c.1584C>A (p.Leu528=) c.1425C>A (p.Leu475=) c.1485C>A (p.Leu495=) | gnomAD v4 |
19 | g.18785758A>C | CA404883063 | COMP | c.1583T>G (p.Leu528Arg) c.1424T>G (p.Leu475Arg) c.1484T>G (p.Leu495Arg) | |
19 | g.18785758A>G | CA404883065 | COMP | c.1583T>C (p.Leu528Pro) c.1424T>C (p.Leu475Pro) c.1484T>C (p.Leu495Pro) | |
19 | g.18785758A>T | CA404883067 | COMP | c.1583T>A (p.Leu528His) c.1424T>A (p.Leu475His) c.1484T>A (p.Leu495His) | |
19 | g.18785759G>A | CA404883072 | COMP | c.1582C>T (p.Leu528Phe) c.1423C>T (p.Leu475Phe) c.1483C>T (p.Leu495Phe) | |
19 | g.18785759G>C | CA404883078 | COMP | c.1582C>G (p.Leu528Val) c.1423C>G (p.Leu475Val) c.1483C>G (p.Leu495Val) | dbSNP gnomAD v4 |
19 | g.18785759G= | CA2326525363 | COMP | c.1582C= (p.Leu528=) c.1423C= (p.Leu475=) c.1483C= (p.Leu495=) | |
19 | g.18785759G>T | CA404883075 | COMP | c.1582C>A (p.Leu528Ile) c.1423C>A (p.Leu475Ile) c.1483C>A (p.Leu495Ile) | |
19 | g.18785760C>A | CA506117424 | COMP | c.1581G>T (p.Thr527=) c.1422G>T (p.Thr474=) c.1482G>T (p.Thr494=) | |
19 | g.18785760C= | CA2326525364 | COMP | c.1581G= (p.Thr527=) c.1422G= (p.Thr474=) c.1482G= (p.Thr494=) | |
19 | g.18785760C>G | CA506117425 | COMP | c.1581G>C (p.Thr527=) c.1422G>C (p.Thr474=) c.1482G>C (p.Thr494=) | |
19 | g.18785760C>T | CA506117426 | COMP | c.1581G>A (p.Thr527=) c.1422G>A (p.Thr474=) c.1482G>A (p.Thr494=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.18785761G>A | CA404883081 | COMP | c.1580C>T (p.Thr527Met) c.1421C>T (p.Thr474Met) c.1481C>T (p.Thr494Met) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18785761G>C | CA404883084 | COMP | c.1580C>G (p.Thr527Arg) c.1421C>G (p.Thr474Arg) c.1481C>G (p.Thr494Arg) | gnomAD v4 |
19 | g.18785761G= | CA2326525365 | COMP | c.1580C= (p.Thr527=) c.1421C= (p.Thr474=) c.1481C= (p.Thr494=) | |
19 | g.18785761G>T | CA404883086 | COMP | c.1580C>A (p.Thr527Lys) c.1421C>A (p.Thr474Lys) c.1481C>A (p.Thr494Lys) | |
19 | g.18785762T>A | CA404883088 | COMP | c.1579A>T (p.Thr527Ser) c.1420A>T (p.Thr474Ser) c.1480A>T (p.Thr494Ser) | |
19 | g.18785762T>C | CA306254661 | COMP | c.1579A>G (p.Thr527Ala) c.1420A>G (p.Thr474Ala) c.1480A>G (p.Thr494Ala) | ClinVar dbSNP |
19 | g.18785762T>G | CA404883092 | COMP | c.1579A>C (p.Thr527Pro) c.1420A>C (p.Thr474Pro) c.1480A>C (p.Thr494Pro) | |
19 | g.18785762T= | CA2326525366 | COMP | c.1579A= (p.Thr527=) c.1420A= (p.Thr474=) c.1480A= (p.Thr494=) | |
19 | g.18785763G>A | CA506117428 | COMP | c.1578C>T (p.Val526=) c.1419C>T (p.Val473=) c.1479C>T (p.Val493=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18785763G>C | CA506117429 | COMP | c.1578C>G (p.Val526=) c.1419C>G (p.Val473=) c.1479C>G (p.Val493=) | |
19 | g.18785763G= | CA2326525367 | COMP | c.1578C= (p.Val526=) c.1419C= (p.Val473=) c.1479C= (p.Val493=) | |
19 | g.18785763G>T | CA506117430 | COMP | c.1578C>A (p.Val526=) c.1419C>A (p.Val473=) c.1479C>A (p.Val493=) | |
19 | g.18785764A>C | CA404883094 | COMP | c.1577T>G (p.Val526Gly) c.1418T>G (p.Val473Gly) c.1478T>G (p.Val493Gly) | |
19 | g.18785764A>G | CA404883095 | COMP | c.1577T>C (p.Val526Ala) c.1418T>C (p.Val473Ala) c.1478T>C (p.Val493Ala) | |
19 | g.18785764A>T | CA404883097 | COMP | c.1577T>A (p.Val526Asp) c.1418T>A (p.Val473Asp) c.1478T>A (p.Val493Asp) | |
19 | g.18785765C>A | CA404883103 | COMP | c.1576G>T (p.Val526Phe) c.1417G>T (p.Val473Phe) c.1477G>T (p.Val493Phe) | |
19 | g.18785765C= | CA2326525368 | COMP | c.1576G= (p.Val526=) c.1417G= (p.Val473=) c.1477G= (p.Val493=) | |
19 | g.18785765C>G | CA404883113 | COMP | c.1576G>C (p.Val526Leu) c.1417G>C (p.Val473Leu) c.1477G>C (p.Val493Leu) | |
19 | g.18785765C>T | CA404883116 | COMP | c.1576G>A (p.Val526Ile) c.1417G>A (p.Val473Ile) c.1477G>A (p.Val493Ile) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18785766T>A | CA404883123 | COMP | c.1575A>T (p.Glu525Asp) c.1416A>T (p.Glu472Asp) c.1476A>T (p.Glu492Asp) | |
19 | g.18785766T>C | CA506117433 | COMP | c.1575A>G (p.Glu525=) c.1416A>G (p.Glu472=) c.1476A>G (p.Glu492=) | |
19 | g.18785766T>G | CA404883122 | COMP | c.1575A>C (p.Glu525Asp) c.1416A>C (p.Glu472Asp) c.1476A>C (p.Glu492Asp) | |
19 | g.18785767T>A | CA404883126 | COMP | c.1574A>T (p.Glu525Val) c.1415A>T (p.Glu472Val) c.1475A>T (p.Glu492Val) | |
19 | g.18785767T>C | CA404883128 | COMP | c.1574A>G (p.Glu525Gly) c.1415A>G (p.Glu472Gly) c.1475A>G (p.Glu492Gly) | |
19 | g.18785767T>G | CA404883131 | COMP | c.1574A>C (p.Glu525Ala) c.1415A>C (p.Glu472Ala) c.1475A>C (p.Glu492Ala) | |
19 | g.18785767_18785781delinsTCAGCGTTCTCCGGA | CA2326525369 | COMP | c.1560_1574delinsTCCGGAGAACGCTGA (p.Cys520=) c.1401_1415delinsTCCGGAGAACGCTGA (p.Cys467=) c.1461_1475delinsTCCGGAGAACGCTGA (p.Cys487=) | |
19 | g.18785768C>A | CA404883134 | COMP | c.1573G>T (p.Glu525Ter) c.1414G>T (p.Glu472Ter) c.1474G>T (p.Glu492Ter) | |
19 | g.18785768C>G | CA404883137 | COMP | c.1573G>C (p.Glu525Gln) c.1414G>C (p.Glu472Gln) c.1474G>C (p.Glu492Gln) | |
19 | g.18785768C>T | CA404883140 | COMP | c.1573G>A (p.Glu525Lys) c.1414G>A (p.Glu472Lys) c.1474G>A (p.Glu492Lys) | |
19 | g.18785768_18785772del | CA2735825195 | COMP | c.1569_1573del (p.Asn523LysfsTer20) c.1410_1414del (p.Asn470LysfsTer20) c.1470_1474del (p.Asn490LysfsTer20) | dbSNP |
19 | g.18785770_18785783del | CA9316356 | COMP | c.1560_1573del (p.Cys520Ter) c.1401_1414del (p.Cys467Ter) c.1461_1474del (p.Cys487Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785769A>C | CA506117438 | COMP | c.1572T>G (p.Ala524=) c.1413T>G (p.Ala471=) c.1473T>G (p.Ala491=) | |
19 | g.18785769A>G | CA506117440 | COMP | c.1572T>C (p.Ala524=) c.1413T>C (p.Ala471=) c.1473T>C (p.Ala491=) | |
19 | g.18785769A>T | CA506117441 | COMP | c.1572T>A (p.Ala524=) c.1413T>A (p.Ala471=) c.1473T>A (p.Ala491=) | |
19 | g.18785770G>A | CA404883144 | COMP | c.1571C>T (p.Ala524Val) c.1412C>T (p.Ala471Val) c.1472C>T (p.Ala491Val) | |
19 | g.18785770G>C | CA404883148 | COMP | c.1571C>G (p.Ala524Gly) c.1412C>G (p.Ala471Gly) c.1472C>G (p.Ala491Gly) | |
19 | g.18785770G>T | CA404883149 | COMP | c.1571C>A (p.Ala524Asp) c.1412C>A (p.Ala471Asp) c.1472C>A (p.Ala491Asp) | gnomAD v4 |
19 | g.18785771C>A | CA404883150 | COMP | c.1570G>T (p.Ala524Ser) c.1411G>T (p.Ala471Ser) c.1471G>T (p.Ala491Ser) | dbSNP |
19 | g.18785771C= | CA2326525370 | COMP | c.1570G= (p.Ala524=) c.1411G= (p.Ala471=) c.1471G= (p.Ala491=) | |
19 | g.18785771C>G | CA404883151 | COMP | c.1570G>C (p.Ala524Pro) c.1411G>C (p.Ala471Pro) c.1471G>C (p.Ala491Pro) | |
19 | g.18785771C>T | CA404883152 | COMP | c.1570G>A (p.Ala524Thr) c.1411G>A (p.Ala471Thr) c.1471G>A (p.Ala491Thr) | gnomAD v4 |
19 | g.18785772G>A | CA506117443 | COMP | c.1569C>T (p.Asn523=) c.1410C>T (p.Asn470=) c.1470C>T (p.Asn490=) | |
19 | g.18785772G>C | CA120167 | COMP | c.1569C>G (p.Asn523Lys) c.1410C>G (p.Asn470Lys) c.1470C>G (p.Asn490Lys) | ClinVar dbSNP |
19 | g.18785772G= | CA2326525371 | COMP | c.1569C= (p.Asn523=) c.1410C= (p.Asn470=) c.1470C= (p.Asn490=) | |
19 | g.18785772G>T | CA404883154 | COMP | c.1569C>A (p.Asn523Lys) c.1410C>A (p.Asn470Lys) c.1470C>A (p.Asn490Lys) | ClinVar dbSNP |
19 | g.18785773T>A | CA404883159 | COMP | c.1568A>T (p.Asn523Ile) c.1409A>T (p.Asn470Ile) c.1469A>T (p.Asn490Ile) | |
19 | g.18785773T>C | CA9316357 | COMP | c.1568A>G (p.Asn523Ser) c.1409A>G (p.Asn470Ser) c.1469A>G (p.Asn490Ser) | ClinVar dbSNP ExAC |
19 | g.18785773T>G | CA404883161 | COMP | c.1568A>C (p.Asn523Thr) c.1409A>C (p.Asn470Thr) c.1469A>C (p.Asn490Thr) | |
19 | g.18785773T= | CA2326525372 | COMP | c.1568A= (p.Asn523=) c.1409A= (p.Asn470=) c.1469A= (p.Asn490=) | |
19 | g.18785774T>A | CA404883164 | COMP | c.1567A>T (p.Asn523Tyr) c.1408A>T (p.Asn470Tyr) c.1468A>T (p.Asn490Tyr) | |
19 | g.18785774T>C | CA404883168 | COMP | c.1567A>G (p.Asn523Asp) c.1408A>G (p.Asn470Asp) c.1468A>G (p.Asn490Asp) | |
19 | g.18785774T>G | CA404883171 | COMP | c.1567A>C (p.Asn523His) c.1408A>C (p.Asn470His) c.1468A>C (p.Asn490His) | |
19 | g.18785775C>A | CA404883175 | COMP | c.1566G>T (p.Glu522Asp) c.1407G>T (p.Glu469Asp) c.1467G>T (p.Glu489Asp) | |
19 | g.18785775C>G | CA404883176 | COMP | c.1566G>C (p.Glu522Asp) c.1407G>C (p.Glu469Asp) c.1467G>C (p.Glu489Asp) | |
19 | g.18785775C>T | CA506117444 | COMP | c.1566G>A (p.Glu522=) c.1407G>A (p.Glu469=) c.1467G>A (p.Glu489=) | |
19 | g.18785776T>A | CA404883179 | COMP | c.1565A>T (p.Glu522Val) c.1406A>T (p.Glu469Val) c.1466A>T (p.Glu489Val) | |
19 | g.18785776T>C | CA404883180 | COMP | c.1565A>G (p.Glu522Gly) c.1406A>G (p.Glu469Gly) c.1466A>G (p.Glu489Gly) | |
19 | g.18785776T>G | CA404883181 | COMP | c.1565A>C (p.Glu522Ala) c.1406A>C (p.Glu469Ala) c.1466A>C (p.Glu489Ala) | |
19 | g.18785777C>A | CA404883182 | COMP | c.1564G>T (p.Glu522Ter) c.1405G>T (p.Glu469Ter) c.1465G>T (p.Glu489Ter) | |
19 | g.18785777C>G | CA404883183 | COMP | c.1564G>C (p.Glu522Gln) c.1405G>C (p.Glu469Gln) c.1465G>C (p.Glu489Gln) | |
19 | g.18785777C>T | CA404883185 | COMP | c.1564G>A (p.Glu522Lys) c.1405G>A (p.Glu469Lys) c.1465G>A (p.Glu489Lys) | |
19 | g.18785778C>A | CA506117445 | COMP | c.1563G>T (p.Pro521=) c.1404G>T (p.Pro468=) c.1464G>T (p.Pro488=) | |
19 | g.18785778C= | CA2326525373 | COMP | c.1563G= (p.Pro521=) c.1404G= (p.Pro468=) c.1464G= (p.Pro488=) | |
19 | g.18785778C>G | CA506117447 | COMP | c.1563G>C (p.Pro521=) c.1404G>C (p.Pro468=) c.1464G>C (p.Pro488=) | |
19 | g.18785778C>T | CA9316358 | COMP | c.1563G>A (p.Pro521=) c.1404G>A (p.Pro468=) c.1464G>A (p.Pro488=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785779G>A | CA404883191 | COMP | c.1562C>T (p.Pro521Leu) c.1403C>T (p.Pro468Leu) c.1463C>T (p.Pro488Leu) | |
19 | g.18785779G>C | CA306254680 | COMP | c.1562C>G (p.Pro521Arg) c.1403C>G (p.Pro468Arg) c.1463C>G (p.Pro488Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785779G= | CA2326525374 | COMP | c.1562C= (p.Pro521=) c.1403C= (p.Pro468=) c.1463C= (p.Pro488=) | |
19 | g.18785779G>T | CA404883190 | COMP | c.1562C>A (p.Pro521Gln) c.1403C>A (p.Pro468Gln) c.1463C>A (p.Pro488Gln) | gnomAD v4 |
19 | g.18785780G>A | CA404883194 | COMP | c.1561C>T (p.Pro521Ser) c.1402C>T (p.Pro468Ser) c.1462C>T (p.Pro488Ser) | |
19 | g.18785780G>C | CA404883196 | COMP | c.1561C>G (p.Pro521Ala) c.1402C>G (p.Pro468Ala) c.1462C>G (p.Pro488Ala) | |
19 | g.18785780G>T | CA404883199 | COMP | c.1561C>A (p.Pro521Thr) c.1402C>A (p.Pro468Thr) c.1462C>A (p.Pro488Thr) | |
19 | g.18785781A>C | CA404883202 | COMP | c.1560T>G (p.Cys520Trp) c.1401T>G (p.Cys467Trp) c.1461T>G (p.Cys487Trp) | |
19 | g.18785781A>G | CA506117450 | COMP | c.1560T>C (p.Cys520=) c.1401T>C (p.Cys467=) c.1461T>C (p.Cys487=) | |
19 | g.18785781A>T | CA404883204 | COMP | c.1560T>A (p.Cys520Ter) c.1401T>A (p.Cys467Ter) c.1461T>A (p.Cys487Ter) | |
19 | g.18785782C>A | CA404883207 | COMP | c.1559G>T (p.Cys520Phe) c.1400G>T (p.Cys467Phe) c.1460G>T (p.Cys487Phe) | |
19 | g.18785782C>G | CA404883210 | COMP | c.1559G>C (p.Cys520Ser) c.1400G>C (p.Cys467Ser) c.1460G>C (p.Cys487Ser) | |
19 | g.18785782C>T | CA404883213 | COMP | c.1559G>A (p.Cys520Tyr) c.1400G>A (p.Cys467Tyr) c.1460G>A (p.Cys487Tyr) | |
19 | g.18785783A>C | CA404883216 | COMP | c.1558T>G (p.Cys520Gly) c.1399T>G (p.Cys467Gly) c.1459T>G (p.Cys487Gly) | gnomAD v4 |
19 | g.18785783A>G | CA404883218 | COMP | c.1558T>C (p.Cys520Arg) c.1399T>C (p.Cys467Arg) c.1459T>C (p.Cys487Arg) | |
19 | g.18785783A>T | CA404883222 | COMP | c.1558T>A (p.Cys520Ser) c.1399T>A (p.Cys467Ser) c.1459T>A (p.Cys487Ser) | |
19 | g.18785784C>A | CA506117452 | COMP | c.1557G>T (p.Val519=) c.1398G>T (p.Val466=) c.1458G>T (p.Val486=) | |
19 | g.18785784C>G | CA506117453 | COMP | c.1557G>C (p.Val519=) c.1398G>C (p.Val466=) c.1458G>C (p.Val486=) | |
19 | g.18785784C>T | CA506117455 | COMP | c.1557G>A (p.Val519=) c.1398G>A (p.Val466=) c.1458G>A (p.Val486=) | |
19 | g.18785785A>C | CA404883249 | COMP | c.1556T>G (p.Val519Gly) c.1397T>G (p.Val466Gly) c.1457T>G (p.Val486Gly) | |
19 | g.18785785A>G | CA404883251 | COMP | c.1556T>C (p.Val519Ala) c.1397T>C (p.Val466Ala) c.1457T>C (p.Val486Ala) | |
19 | g.18785785A>T | CA404883234 | COMP | c.1556T>A (p.Val519Glu) c.1397T>A (p.Val466Glu) c.1457T>A (p.Val486Glu) | |
19 | g.18785786C>A | CA404883254 | COMP | c.1555G>T (p.Val519Leu) c.1396G>T (p.Val466Leu) c.1456G>T (p.Val486Leu) | gnomAD v4 |
19 | g.18785786C= | CA2326525375 | COMP | c.1555G= (p.Val519=) c.1396G= (p.Val466=) c.1456G= (p.Val486=) | |
19 | g.18785786C>G | CA404883270 | COMP | c.1555G>C (p.Val519Leu) c.1396G>C (p.Val466Leu) c.1456G>C (p.Val486Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18785786C>T | CA9316359 | COMP | c.1555G>A (p.Val519Met) c.1396G>A (p.Val466Met) c.1456G>A (p.Val486Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785787G>A | CA506117458 | COMP | c.1554C>T (p.Asp518=) c.1395C>T (p.Asp465=) c.1455C>T (p.Asp485=) | |
19 | g.18785787G>C | CA404883272 | COMP | c.1554C>G (p.Asp518Glu) c.1395C>G (p.Asp465Glu) c.1455C>G (p.Asp485Glu) | |
19 | g.18785787G>T | CA404883273 | COMP | c.1554C>A (p.Asp518Glu) c.1395C>A (p.Asp465Glu) c.1455C>A (p.Asp485Glu) | |
19 | g.18785788T>A | CA404883275 | COMP | c.1553A>T (p.Asp518Val) c.1394A>T (p.Asp465Val) c.1454A>T (p.Asp485Val) | |
19 | g.18785788T>C | CA404883276 | COMP | c.1553A>G (p.Asp518Gly) c.1394A>G (p.Asp465Gly) c.1454A>G (p.Asp485Gly) | ClinVar dbSNP |
19 | g.18785788T>G | CA404883288 | COMP | c.1553A>C (p.Asp518Ala) c.1394A>C (p.Asp465Ala) c.1454A>C (p.Asp485Ala) | |
19 | g.18785789C>A | CA404883294 | COMP | c.1552G>T (p.Asp518Tyr) c.1393G>T (p.Asp465Tyr) c.1453G>T (p.Asp485Tyr) | |
19 | g.18785789C= | CA2326525376 | COMP | c.1552G= (p.Asp518=) c.1393G= (p.Asp465=) c.1453G= (p.Asp485=) | |
19 | g.18785789C>G | CA404883300 | COMP | c.1552G>C (p.Asp518His) c.1393G>C (p.Asp465His) c.1453G>C (p.Asp485His) | ClinVar dbSNP |
19 | g.18785789C>T | CA404883301 | COMP | c.1552G>A (p.Asp518Asn) c.1393G>A (p.Asp465Asn) c.1453G>A (p.Asp485Asn) | ClinVar dbSNP gnomAD v2 |
19 | g.18785790G>A | CA9316360 | COMP | c.1551C>T (p.Ile517=) c.1392C>T (p.Ile464=) c.1452C>T (p.Ile484=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785790G>C | CA404883306 | COMP | c.1551C>G (p.Ile517Met) c.1392C>G (p.Ile464Met) c.1452C>G (p.Ile484Met) | |
19 | g.18785790G= | CA2326525377 | COMP | c.1551C= (p.Ile517=) c.1392C= (p.Ile464=) c.1452C= (p.Ile484=) | |
19 | g.18785790G>T | CA506117461 | COMP | c.1551C>A (p.Ile517=) c.1392C>A (p.Ile464=) c.1452C>A (p.Ile484=) | |
19 | g.18785791A>C | CA404883319 | COMP | c.1550T>G (p.Ile517Ser) c.1391T>G (p.Ile464Ser) c.1451T>G (p.Ile484Ser) | |
19 | g.18785791A>G | CA404883316 | COMP | c.1550T>C (p.Ile517Thr) c.1391T>C (p.Ile464Thr) c.1451T>C (p.Ile484Thr) | |
19 | g.18785791A>T | CA404883311 | COMP | c.1550T>A (p.Ile517Asn) c.1391T>A (p.Ile464Asn) c.1451T>A (p.Ile484Asn) | |
19 | g.18785792T>A | CA404883322 | COMP | c.1549A>T (p.Ile517Phe) c.1390A>T (p.Ile464Phe) c.1450A>T (p.Ile484Phe) | |
19 | g.18785792T>C | CA404883325 | COMP | c.1549A>G (p.Ile517Val) c.1390A>G (p.Ile464Val) c.1450A>G (p.Ile484Val) | |
19 | g.18785792T>G | CA404883327 | COMP | c.1549A>C (p.Ile517Leu) c.1390A>C (p.Ile464Leu) c.1450A>C (p.Ile484Leu) | |
19 | g.18785793C>A | CA9316361 | COMP | c.1548G>T (p.Lys516Asn) c.1389G>T (p.Lys463Asn) c.1449G>T (p.Lys483Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785793C= | CA2326525378 | COMP | c.1548G= (p.Lys516=) c.1389G= (p.Lys463=) c.1449G= (p.Lys483=) | |
19 | g.18785793C>G | CA404883332 | COMP | c.1548G>C (p.Lys516Asn) c.1389G>C (p.Lys463Asn) c.1449G>C (p.Lys483Asn) | |
19 | g.18785793C>T | CA506117465 | COMP | c.1548G>A (p.Lys516=) c.1389G>A (p.Lys463=) c.1449G>A (p.Lys483=) | |
19 | g.18785800_18785811del | CA2695228422 | COMP | c.1537_1548del (p.Val513_Lys516del) c.1378_1389del (p.Val460_Lys463del) c.1438_1449del (p.Val480_Lys483del) | |
19 | g.18785794T>A | CA404883335 | COMP | c.1547A>T (p.Lys516Met) c.1388A>T (p.Lys463Met) c.1448A>T (p.Lys483Met) | |
19 | g.18785794T>C | CA404883338 | COMP | c.1547A>G (p.Lys516Arg) c.1388A>G (p.Lys463Arg) c.1448A>G (p.Lys483Arg) | |
19 | g.18785794T>G | CA404883344 | COMP | c.1547A>C (p.Lys516Thr) c.1388A>C (p.Lys463Thr) c.1448A>C (p.Lys483Thr) | |
19 | g.18785795T>A | CA404883353 | COMP | c.1546A>T (p.Lys516Ter) c.1387A>T (p.Lys463Ter) c.1447A>T (p.Lys483Ter) | |
19 | g.18785795T>C | CA404883354 | COMP | c.1546A>G (p.Lys516Glu) c.1387A>G (p.Lys463Glu) c.1447A>G (p.Lys483Glu) | gnomAD v4 |
19 | g.18785795T>G | CA404883355 | COMP | c.1546A>C (p.Lys516Gln) c.1387A>C (p.Lys463Gln) c.1447A>C (p.Lys483Gln) | |
19 | g.18785796G>A | CA506117467 | COMP | c.1545C>T (p.Asp515=) c.1386C>T (p.Asp462=) c.1446C>T (p.Asp482=) | |
19 | g.18785796G>C | CA404883356 | COMP | c.1545C>G (p.Asp515Glu) c.1386C>G (p.Asp462Glu) c.1446C>G (p.Asp482Glu) | ClinVar dbSNP |
19 | g.18785796G= | CA2326525379 | COMP | c.1545C= (p.Asp515=) c.1386C= (p.Asp462=) c.1446C= (p.Asp482=) | |
19 | g.18785796G>T | CA404883357 | COMP | c.1545C>A (p.Asp515Glu) c.1386C>A (p.Asp462Glu) c.1446C>A (p.Asp482Glu) | ClinVar |
19 | g.18785797T>A | CA404883360 | COMP | c.1544A>T (p.Asp515Val) c.1385A>T (p.Asp462Val) c.1445A>T (p.Asp482Val) | |
19 | g.18785797T>C | CA404883365 | COMP | c.1544A>G (p.Asp515Gly) c.1385A>G (p.Asp462Gly) c.1445A>G (p.Asp482Gly) | ClinVar |
19 | g.18785797T>G | CA404883362 | COMP | c.1544A>C (p.Asp515Ala) c.1385A>C (p.Asp462Ala) c.1445A>C (p.Asp482Ala) | |
19 | g.18785798C>A | CA404883369 | COMP | c.1543G>T (p.Asp515Tyr) c.1384G>T (p.Asp462Tyr) c.1444G>T (p.Asp482Tyr) | |
19 | g.18785798C>G | CA404883373 | COMP | c.1543G>C (p.Asp515His) c.1384G>C (p.Asp462His) c.1444G>C (p.Asp482His) | |
19 | g.18785798C>T | CA404883371 | COMP | c.1543G>A (p.Asp515Asn) c.1384G>A (p.Asp462Asn) c.1444G>A (p.Asp482Asn) | |
19 | g.18785799T>A | CA506117469 | COMP | c.1542A>T (p.Val514=) c.1383A>T (p.Val461=) c.1443A>T (p.Val481=) | |
19 | g.18785799T>C | CA506117470 | COMP | c.1542A>G (p.Val514=) c.1383A>G (p.Val461=) c.1443A>G (p.Val481=) | |
19 | g.18785799T>G | CA506117471 | COMP | c.1542A>C (p.Val514=) c.1383A>C (p.Val461=) c.1443A>C (p.Val481=) | |
19 | g.18785800A= | CA2326525380 | COMP | c.1541T= (p.Val514=) c.1382T= (p.Val461=) c.1442T= (p.Val481=) | |
19 | g.18785800A>C | CA404883374 | COMP | c.1541T>G (p.Val514Gly) c.1382T>G (p.Val461Gly) c.1442T>G (p.Val481Gly) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18785800A>G | CA404883378 | COMP | c.1541T>C (p.Val514Ala) c.1382T>C (p.Val461Ala) c.1442T>C (p.Val481Ala) | |
19 | g.18785800A>T | CA404883375 | COMP | c.1541T>A (p.Val514Glu) c.1382T>A (p.Val461Glu) c.1442T>A (p.Val481Glu) | |
19 | g.18785801C>A | CA404883382 | COMP | c.1540G>T (p.Val514Leu) c.1381G>T (p.Val461Leu) c.1441G>T (p.Val481Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18785801C= | CA2326525381 | COMP | c.1540G= (p.Val514=) c.1381G= (p.Val461=) c.1441G= (p.Val481=) | |
19 | g.18785801C>G | CA404883400 | COMP | c.1540G>C (p.Val514Leu) c.1381G>C (p.Val461Leu) c.1441G>C (p.Val481Leu) | |
19 | g.18785801C>T | CA404883384 | COMP | c.1540G>A (p.Val514Ile) c.1381G>A (p.Val461Ile) c.1441G>A (p.Val481Ile) | |
19 | g.18785802_18785813del | CA2695228423 | COMP | c.1529_1540del (p.Ala510_Val513del) c.1370_1381del (p.Ala457_Val460del) c.1430_1441del (p.Ala477_Val480del) | |
19 | g.18785802C>A | CA506117475 | COMP | c.1539G>T (p.Val513=) c.1380G>T (p.Val460=) c.1440G>T (p.Val480=) | |
19 | g.18785802C>G | CA506117472 | COMP | c.1539G>C (p.Val513=) c.1380G>C (p.Val460=) c.1440G>C (p.Val480=) | |
19 | g.18785802C>T | CA506117474 | COMP | c.1539G>A (p.Val513=) c.1380G>A (p.Val460=) c.1440G>A (p.Val480=) | |
19 | g.18785803A>C | CA404883405 | COMP | c.1538T>G (p.Val513Gly) c.1379T>G (p.Val460Gly) c.1439T>G (p.Val480Gly) | |
19 | g.18785803A>G | CA404883417 | COMP | c.1538T>C (p.Val513Ala) c.1379T>C (p.Val460Ala) c.1439T>C (p.Val480Ala) | |
19 | g.18785803A>T | CA404883412 | COMP | c.1538T>A (p.Val513Glu) c.1379T>A (p.Val460Glu) c.1439T>A (p.Val480Glu) | |
19 | g.18785804C>A | CA404883420 | COMP | c.1537G>T (p.Val513Leu) c.1378G>T (p.Val460Leu) c.1438G>T (p.Val480Leu) | |
19 | g.18785804C>G | CA404883422 | COMP | c.1537G>C (p.Val513Leu) c.1378G>C (p.Val460Leu) c.1438G>C (p.Val480Leu) | |
19 | g.18785804C>T | CA404883421 | COMP | c.1537G>A (p.Val513Met) c.1378G>A (p.Val460Met) c.1438G>A (p.Val480Met) | |
19 | g.18785805C>A | CA404883427 | COMP | c.1536G>T (p.Lys512Asn) c.1377G>T (p.Lys459Asn) c.1437G>T (p.Lys479Asn) | |
19 | g.18785805C= | CA2326525382 | COMP | c.1536G= (p.Lys512=) c.1377G= (p.Lys459=) c.1437G= (p.Lys479=) | |
19 | g.18785805C>G | CA404883437 | COMP | c.1536G>C (p.Lys512Asn) c.1377G>C (p.Lys459Asn) c.1437G>C (p.Lys479Asn) | |
19 | g.18785805C>T | CA9316362 | COMP | c.1536G>A (p.Lys512=) c.1377G>A (p.Lys459=) c.1437G>A (p.Lys479=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785806T>A | CA404883440 | COMP | c.1535A>T (p.Lys512Met) c.1376A>T (p.Lys459Met) c.1436A>T (p.Lys479Met) | |
19 | g.18785806T>C | CA9316363 | COMP | c.1535A>G (p.Lys512Arg) c.1376A>G (p.Lys459Arg) c.1436A>G (p.Lys479Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785806T>G | CA404883446 | COMP | c.1535A>C (p.Lys512Thr) c.1376A>C (p.Lys459Thr) c.1436A>C (p.Lys479Thr) | |
19 | g.18785806T= | CA2326525383 | COMP | c.1535A= (p.Lys512=) c.1376A= (p.Lys459=) c.1436A= (p.Lys479=) | |
19 | g.18785807T>A | CA404883449 | COMP | c.1534A>T (p.Lys512Ter) c.1375A>T (p.Lys459Ter) c.1435A>T (p.Lys479Ter) | |
19 | g.18785807T>C | CA404883452 | COMP | c.1534A>G (p.Lys512Glu) c.1375A>G (p.Lys459Glu) c.1435A>G (p.Lys479Glu) | |
19 | g.18785807T>G | CA9316364 | COMP | c.1534A>C (p.Lys512Gln) c.1375A>C (p.Lys459Gln) c.1435A>C (p.Lys479Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785807T= | CA2326525384 | COMP | c.1534A= (p.Lys512=) c.1375A= (p.Lys459=) c.1435A= (p.Lys479=) | |
19 | g.18785808G>A | CA506117480 | COMP | c.1533C>T (p.Asp511=) c.1374C>T (p.Asp458=) c.1434C>T (p.Asp478=) | |
19 | g.18785808G>C | CA16620813 | COMP | c.1533C>G (p.Asp511Glu) c.1374C>G (p.Asp458Glu) c.1434C>G (p.Asp478Glu) | ClinVar dbSNP |
19 | g.18785808G= | CA2326525385 | COMP | c.1533C= (p.Asp511=) c.1374C= (p.Asp458=) c.1434C= (p.Asp478=) | |
19 | g.18785808G>T | CA404883483 | COMP | c.1533C>A (p.Asp511Glu) c.1374C>A (p.Asp458Glu) c.1434C>A (p.Asp478Glu) | |
19 | g.18785809T>A | CA404883494 | COMP | c.1532A>T (p.Asp511Val) c.1373A>T (p.Asp458Val) c.1433A>T (p.Asp478Val) | ClinVar dbSNP |
19 | g.18785809T>C | CA404883495 | COMP | c.1532A>G (p.Asp511Gly) c.1373A>G (p.Asp458Gly) c.1433A>G (p.Asp478Gly) | |
19 | g.18785809T>G | CA404883498 | COMP | c.1532A>C (p.Asp511Ala) c.1373A>C (p.Asp458Ala) c.1433A>C (p.Asp478Ala) | |
19 | g.18785809T= | CA2326525386 | COMP | c.1532A= (p.Asp511=) c.1373A= (p.Asp458=) c.1433A= (p.Asp478=) | |
19 | g.18785810C>A | CA404883512 | COMP | c.1531G>T (p.Asp511Tyr) c.1372G>T (p.Asp458Tyr) c.1432G>T (p.Asp478Tyr) | |
19 | g.18785810C>G | CA404883516 | COMP | c.1531G>C (p.Asp511His) c.1372G>C (p.Asp458His) c.1432G>C (p.Asp478His) | |
19 | g.18785810C>T | CA404883514 | COMP | c.1531G>A (p.Asp511Asn) c.1372G>A (p.Asp458Asn) c.1432G>A (p.Asp478Asn) | |
19 | g.18785811T>A | CA506117481 | COMP | c.1530A>T (p.Ala510=) c.1371A>T (p.Ala457=) c.1431A>T (p.Ala477=) | |
19 | g.18785811T>C | CA506117483 | COMP | c.1530A>G (p.Ala510=) c.1371A>G (p.Ala457=) c.1431A>G (p.Ala477=) | |
19 | g.18785811T>G | CA506117484 | COMP | c.1530A>C (p.Ala510=) c.1371A>C (p.Ala457=) c.1431A>C (p.Ala477=) | |
19 | g.18785812G>A | CA404883520 | COMP | c.1529C>T (p.Ala510Val) c.1370C>T (p.Ala457Val) c.1430C>T (p.Ala477Val) | dbSNP gnomAD v2 |
19 | g.18785812G>C | CA404883522 | COMP | c.1529C>G (p.Ala510Gly) c.1370C>G (p.Ala457Gly) c.1430C>G (p.Ala477Gly) | |
19 | g.18785812G= | CA2326525387 | COMP | c.1529C= (p.Ala510=) c.1370C= (p.Ala457=) c.1430C= (p.Ala477=) | |
19 | g.18785812G>T | CA404883526 | COMP | c.1529C>A (p.Ala510Glu) c.1370C>A (p.Ala457Glu) c.1430C>A (p.Ala477Glu) | |
19 | g.18785812_18785814del | CA2580096751 | COMP | c.1527_1529del (p.Asp509_Ala510delinsGlu) c.1368_1370del (p.Asp456_Ala457delinsGlu) c.1428_1430del (p.Asp476_Ala477delinsGlu) | ClinVar |
19 | g.18785813C>A | CA404883529 | COMP | c.1528G>T (p.Ala510Ser) c.1369G>T (p.Ala457Ser) c.1429G>T (p.Ala477Ser) | |
19 | g.18785813C>G | CA404883534 | COMP | c.1528G>C (p.Ala510Pro) c.1369G>C (p.Ala457Pro) c.1429G>C (p.Ala477Pro) | |
19 | g.18785813C>T | CA404883537 | COMP | c.1528G>A (p.Ala510Thr) c.1369G>A (p.Ala457Thr) c.1429G>A (p.Ala477Thr) | |
19 | g.18785814A= | CA2326525388 | COMP | c.1527T= (p.Asp509=) c.1368T= (p.Asp456=) c.1428T= (p.Asp476=) | |
19 | g.18785814A>C | CA404883542 | COMP | c.1527T>G (p.Asp509Glu) c.1368T>G (p.Asp456Glu) c.1428T>G (p.Asp476Glu) | |
19 | g.18785814A>G | CA9316365 | COMP | c.1527T>C (p.Asp509=) c.1368T>C (p.Asp456=) c.1428T>C (p.Asp476=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785814A>T | CA404883548 | COMP | c.1527T>A (p.Asp509Glu) c.1368T>A (p.Asp456Glu) c.1428T>A (p.Asp476Glu) | ClinVar |
19 | g.18785815del | CA2583621879 | COMP | c.1526del (p.Asp509ValfsTer6) c.1367del (p.Asp456ValfsTer6) c.1427del (p.Asp476ValfsTer6) | gnomAD v4 |
19 | g.18785815T>A | CA404883554 | COMP | c.1526A>T (p.Asp509Val) c.1367A>T (p.Asp456Val) c.1427A>T (p.Asp476Val) | ClinVar dbSNP |
19 | g.18785815T>C | CA404883555 | COMP | c.1526A>G (p.Asp509Gly) c.1367A>G (p.Asp456Gly) c.1427A>G (p.Asp476Gly) | ClinVar |
19 | g.18785815T>G | CA404883552 | COMP | c.1526A>C (p.Asp509Ala) c.1367A>C (p.Asp456Ala) c.1427A>C (p.Asp476Ala) |