Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.92719032T>ACA374036766BICD2c.1613A>T (p.Tyr538Phe)
c.1694A>T (p.Tyr565Phe)
9g.92719032T>CCA374036769BICD2c.1613A>G (p.Tyr538Cys)
c.1694A>G (p.Tyr565Cys)
 ClinVar dbSNP
9g.92719032T>GCA374036770BICD2c.1613A>C (p.Tyr538Ser)
c.1694A>C (p.Tyr565Ser)
9g.92719032T=CA1864361533BICD2c.1613A= (p.Tyr538=)
c.1694A= (p.Tyr565=)
9g.92719033A>CCA374036771BICD2c.1612T>G (p.Tyr538Asp)
c.1693T>G (p.Tyr565Asp)
9g.92719033A>GCA374036773BICD2c.1612T>C (p.Tyr538His)
c.1693T>C (p.Tyr565His)
 ClinVar dbSNP
9g.92719033A>TCA374036775BICD2c.1612T>A (p.Tyr538Asn)
c.1693T>A (p.Tyr565Asn)
9g.92719034G>ACA5126524BICD2c.1611C>T (p.Leu537=)
c.1692C>T (p.Leu564=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719034G>CCA466343232BICD2c.1611C>G (p.Leu537=)
c.1692C>G (p.Leu564=)
9g.92719034G=CA1864361538BICD2c.1611C= (p.Leu537=)
c.1692C= (p.Leu564=)
9g.92719034G>TCA466343233BICD2c.1611C>A (p.Leu537=)
c.1692C>A (p.Leu564=)
 gnomAD v4
9g.92719035A>CCA374036785BICD2c.1610T>G (p.Leu537Arg)
c.1691T>G (p.Leu564Arg)
9g.92719035A>GCA374036788BICD2c.1610T>C (p.Leu537Pro)
c.1691T>C (p.Leu564Pro)
9g.92719035A>TCA374036782BICD2c.1610T>A (p.Leu537His)
c.1691T>A (p.Leu564His)
9g.92719036G>ACA374036799BICD2c.1609C>T (p.Leu537Phe)
c.1690C>T (p.Leu564Phe)
9g.92719036G>CCA374036792BICD2c.1609C>G (p.Leu537Val)
c.1690C>G (p.Leu564Val)
9g.92719036G>TCA374036795BICD2c.1609C>A (p.Leu537Ile)
c.1690C>A (p.Leu564Ile)
9g.92719037A>CCA374036802BICD2c.1608T>G (p.Asn536Lys)
c.1689T>G (p.Asn563Lys)
9g.92719037A>GCA466343241BICD2c.1608T>C (p.Asn536=)
c.1689T>C (p.Asn563=)
9g.92719037A>TCA374036806BICD2c.1608T>A (p.Asn536Lys)
c.1689T>A (p.Asn563Lys)
9g.92719038T>ACA374036809BICD2c.1607A>T (p.Asn536Ile)
c.1688A>T (p.Asn563Ile)
9g.92719038T>CCA374036812BICD2c.1607A>G (p.Asn536Ser)
c.1688A>G (p.Asn563Ser)
 ClinVar gnomAD v4
9g.92719038T>GCA374036816BICD2c.1607A>C (p.Asn536Thr)
c.1688A>C (p.Asn563Thr)
9g.92719039T>ACA374036819BICD2c.1606A>T (p.Asn536Tyr)
c.1687A>T (p.Asn563Tyr)
9g.92719039T>CCA374036823BICD2c.1606A>G (p.Asn536Asp)
c.1687A>G (p.Asn563Asp)
9g.92719039T>GCA374036825BICD2c.1606A>C (p.Asn536His)
c.1687A>C (p.Asn563His)
9g.92719040G>ACA466343247BICD2c.1605C>T (p.Ala535=)
c.1686C>T (p.Ala562=)
 gnomAD v4
9g.92719040G>CCA466343248BICD2c.1605C>G (p.Ala535=)
c.1686C>G (p.Ala562=)
9g.92719040G>TCA466343249BICD2c.1605C>A (p.Ala535=)
c.1686C>A (p.Ala562=)
9g.92719041G>ACA374036829BICD2c.1604C>T (p.Ala535Val)
c.1685C>T (p.Ala562Val)
 ClinVar dbSNP
9g.92719041G>CCA374036832BICD2c.1604C>G (p.Ala535Gly)
c.1685C>G (p.Ala562Gly)
9g.92719041G=CA1864361545BICD2c.1604C= (p.Ala535=)
c.1685C= (p.Ala562=)
9g.92719041G>TCA374036835BICD2c.1604C>A (p.Ala535Asp)
c.1685C>A (p.Ala562Asp)
 gnomAD v4
9g.92719042C>ACA374036848BICD2c.1603G>T (p.Ala535Ser)
c.1684G>T (p.Ala562Ser)
9g.92719042C>GCA374036843BICD2c.1603G>C (p.Ala535Pro)
c.1684G>C (p.Ala562Pro)
9g.92719042C>TCA374036845BICD2c.1603G>A (p.Ala535Thr)
c.1684G>A (p.Ala562Thr)
9g.92719043C>ACA466343251BICD2c.1602G>T (p.Leu534=)
c.1683G>T (p.Leu561=)
9g.92719043C>GCA466343252BICD2c.1602G>C (p.Leu534=)
c.1683G>C (p.Leu561=)
9g.92719043C>TCA466343254BICD2c.1602G>A (p.Leu534=)
c.1683G>A (p.Leu561=)
9g.92719044A>CCA374036852BICD2c.1601T>G (p.Leu534Arg)
c.1682T>G (p.Leu561Arg)
9g.92719044A>GCA374036854BICD2c.1601T>C (p.Leu534Pro)
c.1682T>C (p.Leu561Pro)
9g.92719044A>TCA374036858BICD2c.1601T>A (p.Leu534Gln)
c.1682T>A (p.Leu561Gln)
9g.92719045G>ACA466343262BICD2c.1600C>T (p.Leu534=)
c.1681C>T (p.Leu561=)
9g.92719045G>CCA374036861BICD2c.1600C>G (p.Leu534Val)
c.1681C>G (p.Leu561Val)
9g.92719045G>TCA374036863BICD2c.1600C>A (p.Leu534Met)
c.1681C>A (p.Leu561Met)
9g.92719046C>ACA374036876BICD2c.1599G>T (p.Glu533Asp)
c.1680G>T (p.Glu560Asp)
9g.92719046C>GCA374036878BICD2c.1599G>C (p.Glu533Asp)
c.1680G>C (p.Glu560Asp)
9g.92719046C>TCA466343263BICD2c.1599G>A (p.Glu533=)
c.1680G>A (p.Glu560=)
9g.92719047T>ACA374036881BICD2c.1598A>T (p.Glu533Val)
c.1679A>T (p.Glu560Val)
9g.92719047T>CCA374036883BICD2c.1598A>G (p.Glu533Gly)
c.1679A>G (p.Glu560Gly)
9g.92719047T>GCA374036886BICD2c.1598A>C (p.Glu533Ala)
c.1679A>C (p.Glu560Ala)
9g.92719048C>ACA374036896BICD2c.1597G>T (p.Glu533Ter)
c.1678G>T (p.Glu560Ter)
9g.92719048C>GCA374036897BICD2c.1597G>C (p.Glu533Gln)
c.1678G>C (p.Glu560Gln)
9g.92719048C>TCA374036899BICD2c.1597G>A (p.Glu533Lys)
c.1678G>A (p.Glu560Lys)
9g.92719049C>ACA374036902BICD2c.1596G>T (p.Glu532Asp)
c.1677G>T (p.Glu559Asp)
9g.92719049C>GCA374036904BICD2c.1596G>C (p.Glu532Asp)
c.1677G>C (p.Glu559Asp)
9g.92719049C>TCA466343268BICD2c.1596G>A (p.Glu532=)
c.1677G>A (p.Glu559=)
9g.92719050T>ACA374036908BICD2c.1595A>T (p.Glu532Val)
c.1676A>T (p.Glu559Val)
9g.92719050T>CCA374036910BICD2c.1595A>G (p.Glu532Gly)
c.1676A>G (p.Glu559Gly)
9g.92719050T>GCA374036912BICD2c.1595A>C (p.Glu532Ala)
c.1676A>C (p.Glu559Ala)
9g.92719051C>ACA374036914BICD2c.1594G>T (p.Glu532Ter)
c.1675G>T (p.Glu559Ter)
9g.92719051C>GCA374036916BICD2c.1594G>C (p.Glu532Gln)
c.1675G>C (p.Glu559Gln)
9g.92719051C>TCA374036918BICD2c.1594G>A (p.Glu532Lys)
c.1675G>A (p.Glu559Lys)
 COSMIC COSMIC
9g.92719052A>CCA374036921BICD2c.1593T>G (p.Ser531Arg)
c.1674T>G (p.Ser558Arg)
9g.92719052A>GCA466343280BICD2c.1593T>C (p.Ser531=)
c.1674T>C (p.Ser558=)
9g.92719052A>TCA374036925BICD2c.1593T>A (p.Ser531Arg)
c.1674T>A (p.Ser558Arg)
9g.92719053C>ACA374036934BICD2c.1592G>T (p.Ser531Ile)
c.1673G>T (p.Ser558Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92719053C=CA1864361550BICD2c.1592G= (p.Ser531=)
c.1673G= (p.Ser558=)
9g.92719053C>GCA374036942BICD2c.1592G>C (p.Ser531Thr)
c.1673G>C (p.Ser558Thr)
 dbSNP gnomAD v3 gnomAD v4
9g.92719053C>TCA374036943BICD2c.1592G>A (p.Ser531Asn)
c.1673G>A (p.Ser558Asn)
9g.92719054T>ACA374036948BICD2c.1591A>T (p.Ser531Cys)
c.1672A>T (p.Ser558Cys)
9g.92719054T>CCA374036950BICD2c.1591A>G (p.Ser531Gly)
c.1672A>G (p.Ser558Gly)
9g.92719054T>GCA374036953BICD2c.1591A>C (p.Ser531Arg)
c.1672A>C (p.Ser558Arg)
9g.92719055G>ACA466343284BICD2c.1590C>T (p.Phe530=)
c.1671C>T (p.Phe557=)
9g.92719055G>CCA374036958BICD2c.1590C>G (p.Phe530Leu)
c.1671C>G (p.Phe557Leu)
9g.92719055G=CA1864361555BICD2c.1590C= (p.Phe530=)
c.1671C= (p.Phe557=)
9g.92719055G>TCA374036960BICD2c.1590C>A (p.Phe530Leu)
c.1671C>A (p.Phe557Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.92719056A=CA1864361559BICD2c.1589T= (p.Phe530=)
c.1670T= (p.Phe557=)
9g.92719056A>CCA374036964BICD2c.1589T>G (p.Phe530Cys)
c.1670T>G (p.Phe557Cys)
 gnomAD v4
9g.92719056A>GCA204791BICD2c.1589T>C (p.Phe530Ser)
c.1670T>C (p.Phe557Ser)
 ClinVar dbSNP
9g.92719056A>TCA374036965BICD2c.1589T>A (p.Phe530Tyr)
c.1670T>A (p.Phe557Tyr)
9g.92719057A>CCA374036966BICD2c.1588T>G (p.Phe530Val)
c.1669T>G (p.Phe557Val)
9g.92719057A>GCA374036968BICD2c.1588T>C (p.Phe530Leu)
c.1669T>C (p.Phe557Leu)
9g.92719057A>TCA374036970BICD2c.1588T>A (p.Phe530Ile)
c.1669T>A (p.Phe557Ile)
9g.92719058G>ACA466343294BICD2c.1587C>T (p.Thr529=)
c.1668C>T (p.Thr556=)
 gnomAD v4
9g.92719058G>CCA466343295BICD2c.1587C>G (p.Thr529=)
c.1668C>G (p.Thr556=)
9g.92719058G>TCA466343296BICD2c.1587C>A (p.Thr529=)
c.1668C>A (p.Thr556=)
9g.92719059G>ACA374036976BICD2c.1586C>T (p.Thr529Ile)
c.1667C>T (p.Thr556Ile)
9g.92719059G>CCA374036991BICD2c.1586C>G (p.Thr529Ser)
c.1667C>G (p.Thr556Ser)
9g.92719059G>TCA374036994BICD2c.1586C>A (p.Thr529Asn)
c.1667C>A (p.Thr556Asn)
 gnomAD v4
9g.92719060T>ACA374037014BICD2c.1585A>T (p.Thr529Ser)
c.1666A>T (p.Thr556Ser)
9g.92719060T>CCA374037016BICD2c.1585A>G (p.Thr529Ala)
c.1666A>G (p.Thr556Ala)
 dbSNP
9g.92719060T>GCA374037017BICD2c.1585A>C (p.Thr529Pro)
c.1666A>C (p.Thr556Pro)
9g.92719060T=CA1864361562BICD2c.1585A= (p.Thr529=)
c.1666A= (p.Thr556=)
9g.92719061C>ACA466343309BICD2c.1584G>T (p.Val528=)
c.1665G>T (p.Val555=)
 ClinVar gnomAD v4
9g.92719061C=CA1864361566BICD2c.1584G= (p.Val528=)
c.1665G= (p.Val555=)
9g.92719061C>GCA466343310BICD2c.1584G>C (p.Val528=)
c.1665G>C (p.Val555=)
9g.92719061C>TCA466343311BICD2c.1584G>A (p.Val528=)
c.1665G>A (p.Val555=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92719062A>CCA374037025BICD2c.1583T>G (p.Val528Gly)
c.1664T>G (p.Val555Gly)
9g.92719062A>GCA374037036BICD2c.1583T>C (p.Val528Ala)
c.1664T>C (p.Val555Ala)
9g.92719062A>TCA374037027BICD2c.1583T>A (p.Val528Glu)
c.1664T>A (p.Val555Glu)
9g.92719063C>ACA374037039BICD2c.1582G>T (p.Val528Leu)
c.1663G>T (p.Val555Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.92719063C=CA1864361572BICD2c.1582G= (p.Val528=)
c.1663G= (p.Val555=)
9g.92719063C>GCA374037050BICD2c.1582G>C (p.Val528Leu)
c.1663G>C (p.Val555Leu)
9g.92719063C>TCA196340528BICD2c.1582G>A (p.Val528Met)
c.1663G>A (p.Val555Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92719064C>ACA466343319BICD2c.1581G>T (p.Leu527=)
c.1662G>T (p.Leu554=)
9g.92719064C>GCA466343321BICD2c.1581G>C (p.Leu527=)
c.1662G>C (p.Leu554=)
9g.92719064C>TCA466343322BICD2c.1581G>A (p.Leu527=)
c.1662G>A (p.Leu554=)
9g.92719065A>CCA374037056BICD2c.1580T>G (p.Leu527Arg)
c.1661T>G (p.Leu554Arg)
9g.92719065A>GCA374037058BICD2c.1580T>C (p.Leu527Pro)
c.1661T>C (p.Leu554Pro)
 COSMIC COSMIC
9g.92719065A>TCA374037061BICD2c.1580T>A (p.Leu527Gln)
c.1661T>A (p.Leu554Gln)
9g.92719066G>ACA466343327BICD2c.1579C>T (p.Leu527=)
c.1660C>T (p.Leu554=)
9g.92719066G>CCA374037065BICD2c.1579C>G (p.Leu527Val)
c.1660C>G (p.Leu554Val)
 ClinVar
9g.92719066G>TCA374037070BICD2c.1579C>A (p.Leu527Met)
c.1660C>A (p.Leu554Met)
9g.92719067C>ACA374037072BICD2c.1578G>T (p.Glu526Asp)
c.1659G>T (p.Glu553Asp)
9g.92719067C=CA1864361583BICD2c.1578G= (p.Glu526=)
c.1659G= (p.Glu553=)
9g.92719067C>GCA374037077BICD2c.1578G>C (p.Glu526Asp)
c.1659G>C (p.Glu553Asp)
9g.92719067C>TCA5126525BICD2c.1578G>A (p.Glu526=)
c.1659G>A (p.Glu553=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719068T>ACA374037094BICD2c.1577A>T (p.Glu526Val)
c.1658A>T (p.Glu553Val)
9g.92719068T>CCA5126526BICD2c.1577A>G (p.Glu526Gly)
c.1658A>G (p.Glu553Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719068T>GCA374037100BICD2c.1577A>C (p.Glu526Ala)
c.1658A>C (p.Glu553Ala)
9g.92719068T=CA1864361588BICD2c.1577A= (p.Glu526=)
c.1658A= (p.Glu553=)
9g.92719069C>ACA374037101BICD2c.1576G>T (p.Glu526Ter)
c.1657G>T (p.Glu553Ter)
9g.92719069C>GCA374037102BICD2c.1576G>C (p.Glu526Gln)
c.1657G>C (p.Glu553Gln)
9g.92719069C>TCA374037107BICD2c.1576G>A (p.Glu526Lys)
c.1657G>A (p.Glu553Lys)
9g.92719070A=CA1864361591BICD2c.1575T= (p.Asp525=)
c.1656T= (p.Asp552=)
9g.92719070A>CCA374037114BICD2c.1575T>G (p.Asp525Glu)
c.1656T>G (p.Asp552Glu)
 gnomAD v4
9g.92719070A>GCA466343338BICD2c.1575T>C (p.Asp525=)
c.1656T>C (p.Asp552=)
9g.92719070A>TCA374037112BICD2c.1575T>A (p.Asp525Glu)
c.1656T>A (p.Asp552Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.92719071T>ACA374037119BICD2c.1574A>T (p.Asp525Val)
c.1655A>T (p.Asp552Val)
9g.92719071T>CCA374037122BICD2c.1574A>G (p.Asp525Gly)
c.1655A>G (p.Asp552Gly)
9g.92719071T>GCA374037138BICD2c.1574A>C (p.Asp525Ala)
c.1655A>C (p.Asp552Ala)
9g.92719072C>ACA374037142BICD2c.1573G>T (p.Asp525Tyr)
c.1654G>T (p.Asp552Tyr)
9g.92719072C>GCA374037151BICD2c.1573G>C (p.Asp525His)
c.1654G>C (p.Asp552His)
9g.92719072C>TCA374037154BICD2c.1573G>A (p.Asp525Asn)
c.1654G>A (p.Asp552Asn)
9g.92719073C>ACA374037165BICD2c.1572G>T (p.Gln524His)
c.1653G>T (p.Gln551His)
9g.92719073C>GCA374037162BICD2c.1572G>C (p.Gln524His)
c.1653G>C (p.Gln551His)
9g.92719073C>TCA466343345BICD2c.1572G>A (p.Gln524=)
c.1653G>A (p.Gln551=)
9g.92719074T>ACA374037169BICD2c.1571A>T (p.Gln524Leu)
c.1652A>T (p.Gln551Leu)
9g.92719074T>CCA374037172BICD2c.1571A>G (p.Gln524Arg)
c.1652A>G (p.Gln551Arg)
 gnomAD v4
9g.92719074T>GCA374037176BICD2c.1571A>C (p.Gln524Pro)
c.1652A>C (p.Gln551Pro)
9g.92719075G>ACA374037184BICD2c.1570C>T (p.Gln524Ter)
c.1651C>T (p.Gln551Ter)
9g.92719075G>CCA374037187BICD2c.1570C>G (p.Gln524Glu)
c.1651C>G (p.Gln551Glu)
9g.92719075G>TCA374037190BICD2c.1570C>A (p.Gln524Lys)
c.1651C>A (p.Gln551Lys)
9g.92719076G>ACA466343354BICD2c.1569C>T (p.Ala523=)
c.1650C>T (p.Ala550=)
 ClinVar dbSNP gnomAD v4
9g.92719076G>CCA466343356BICD2c.1569C>G (p.Ala523=)
c.1650C>G (p.Ala550=)
9g.92719076G=CA1864361595BICD2c.1569C= (p.Ala523=)
c.1650C= (p.Ala550=)
9g.92719076G>TCA466343358BICD2c.1569C>A (p.Ala523=)
c.1650C>A (p.Ala550=)
9g.92719077G>ACA374037195BICD2c.1568C>T (p.Ala523Val)
c.1649C>T (p.Ala550Val)
 gnomAD v4
9g.92719077G>CCA374037210BICD2c.1568C>G (p.Ala523Gly)
c.1649C>G (p.Ala550Gly)
9g.92719077G>TCA374037206BICD2c.1568C>A (p.Ala523Asp)
c.1649C>A (p.Ala550Asp)
 gnomAD v4
9g.92719078C>ACA374037213BICD2c.1567G>T (p.Ala523Ser)
c.1648G>T (p.Ala550Ser)
9g.92719078C>GCA374037217BICD2c.1567G>C (p.Ala523Pro)
c.1648G>C (p.Ala550Pro)
9g.92719078C>TCA374037220BICD2c.1567G>A (p.Ala523Thr)
c.1648G>A (p.Ala550Thr)
9g.92719079C>ACA466343361BICD2c.1566G>T (p.Val522=)
c.1647G>T (p.Val549=)
9g.92719079C>GCA466343362BICD2c.1566G>C (p.Val522=)
c.1647G>C (p.Val549=)
9g.92719079C>TCA466343364BICD2c.1566G>A (p.Val522=)
c.1647G>A (p.Val549=)
 gnomAD v4
9g.92719080A>CCA374037230BICD2c.1565T>G (p.Val522Gly)
c.1646T>G (p.Val549Gly)
9g.92719080A>GCA374037241BICD2c.1565T>C (p.Val522Ala)
c.1646T>C (p.Val549Ala)
9g.92719080A>TCA374037245BICD2c.1565T>A (p.Val522Glu)
c.1646T>A (p.Val549Glu)
9g.92719081C>ACA374037253BICD2c.1564G>T (p.Val522Leu)
c.1645G>T (p.Val549Leu)
9g.92719081C=CA1864361598BICD2c.1564G= (p.Val522=)
c.1645G= (p.Val549=)
9g.92719081C>GCA374037247BICD2c.1564G>C (p.Val522Leu)
c.1645G>C (p.Val549Leu)
9g.92719081C>TCA374037251BICD2c.1564G>A (p.Val522Met)
c.1645G>A (p.Val549Met)
 ClinVar dbSNP gnomAD v4
9g.92719082A>CCA374037254BICD2c.1563T>G (p.Ser521Arg)
c.1644T>G (p.Ser548Arg)
9g.92719082A>GCA466343371BICD2c.1563T>C (p.Ser521=)
c.1644T>C (p.Ser548=)
 ClinVar dbSNP
9g.92719082A>TCA374037255BICD2c.1563T>A (p.Ser521Arg)
c.1644T>A (p.Ser548Arg)
9g.92719083C>ACA374037257BICD2c.1562G>T (p.Ser521Ile)
c.1643G>T (p.Ser548Ile)
9g.92719083C=CA1864361603BICD2c.1562G= (p.Ser521=)
c.1643G= (p.Ser548=)
9g.92719083C>GCA374037261BICD2c.1562G>C (p.Ser521Thr)
c.1643G>C (p.Ser548Thr)
 gnomAD v4
9g.92719083C>TCA374037264BICD2c.1562G>A (p.Ser521Asn)
c.1643G>A (p.Ser548Asn)
 ClinVar dbSNP gnomAD v4
9g.92719084T>ACA374037269BICD2c.1561A>T (p.Ser521Cys)
c.1642A>T (p.Ser548Cys)
9g.92719084T>CCA374037275BICD2c.1561A>G (p.Ser521Gly)
c.1642A>G (p.Ser548Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.92719084T>GCA374037273BICD2c.1561A>C (p.Ser521Arg)
c.1642A>C (p.Ser548Arg)
9g.92719084T=CA1864361608BICD2c.1561A= (p.Ser521=)
c.1642A= (p.Ser548=)
9g.92719085C>ACA466343377BICD2c.1560G>T (p.Leu520=)
c.1641G>T (p.Leu547=)
9g.92719085C>GCA466343379BICD2c.1560G>C (p.Leu520=)
c.1641G>C (p.Leu547=)
 gnomAD v4
9g.92719085C>TCA466343380BICD2c.1560G>A (p.Leu520=)
c.1641G>A (p.Leu547=)
9g.92719086A>CCA374037278BICD2c.1559T>G (p.Leu520Arg)
c.1640T>G (p.Leu547Arg)
9g.92719086A>GCA374037279BICD2c.1559T>C (p.Leu520Pro)
c.1640T>C (p.Leu547Pro)
9g.92719086A>TCA374037280BICD2c.1559T>A (p.Leu520Gln)
c.1640T>A (p.Leu547Gln)
9g.92719087G>ACA466343382BICD2c.1558C>T (p.Leu520=)
c.1639C>T (p.Leu547=)
9g.92719087G>CCA374037283BICD2c.1558C>G (p.Leu520Val)
c.1639C>G (p.Leu547Val)
 COSMIC COSMIC
9g.92719087G>TCA374037285BICD2c.1558C>A (p.Leu520Met)
c.1639C>A (p.Leu547Met)
 gnomAD v4
9g.92719088G>ACA466342717BICD2c.1557C>T (p.Ser519=)
c.1638C>T (p.Ser546=)
9g.92719088G>CCA374037299BICD2c.1557C>G (p.Ser519Arg)
c.1638C>G (p.Ser546Arg)
9g.92719088G>TCA374037302BICD2c.1557C>A (p.Ser519Arg)
c.1638C>A (p.Ser546Arg)
9g.92719089C>ACA196340551BICD2c.1556G>T (p.Ser519Ile)
c.1637G>T (p.Ser546Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92719089C=CA1864361616BICD2c.1556G= (p.Ser519=)
c.1637G= (p.Ser546=)
9g.92719089C>GCA374037306BICD2c.1556G>C (p.Ser519Thr)
c.1637G>C (p.Ser546Thr)
9g.92719089C>TCA374037307BICD2c.1556G>A (p.Ser519Asn)
c.1637G>A (p.Ser546Asn)
 gnomAD v4
9g.92719090T>ACA374037314BICD2c.1555A>T (p.Ser519Cys)
c.1636A>T (p.Ser546Cys)
9g.92719090T>CCA374037317BICD2c.1555A>G (p.Ser519Gly)
c.1636A>G (p.Ser546Gly)
 gnomAD v4
9g.92719090T>GCA374037316BICD2c.1555A>C (p.Ser519Arg)
c.1636A>C (p.Ser546Arg)
9g.92719091G>ACA466342722BICD2c.1554C>T (p.Gly518=)
c.1635C>T (p.Gly545=)
 dbSNP gnomAD v2 gnomAD v4
9g.92719091G>CCA466342723BICD2c.1554C>G (p.Gly518=)
c.1635C>G (p.Gly545=)
9g.92719091G=CA1864361620BICD2c.1554C= (p.Gly518=)
c.1635C= (p.Gly545=)
9g.92719091G>TCA466342725BICD2c.1554C>A (p.Gly518=)
c.1635C>A (p.Gly545=)
 gnomAD v4
9g.92719092C>ACA374037320BICD2c.1553G>T (p.Gly518Val)
c.1634G>T (p.Gly545Val)
9g.92719092C>GCA374037322BICD2c.1553G>C (p.Gly518Ala)
c.1634G>C (p.Gly545Ala)
9g.92719092C>TCA374037321BICD2c.1553G>A (p.Gly518Asp)
c.1634G>A (p.Gly545Asp)
 gnomAD v4
9g.92719093C>ACA374037323BICD2c.1552G>T (p.Gly518Cys)
c.1633G>T (p.Gly545Cys)
9g.92719093C>GCA374037324BICD2c.1552G>C (p.Gly518Arg)
c.1633G>C (p.Gly545Arg)
 ClinVar
9g.92719093C>TCA374037330BICD2c.1552G>A (p.Gly518Ser)
c.1633G>A (p.Gly545Ser)
 gnomAD v4
9g.92719094C>ACA374037334BICD2c.1551G>T (p.Gln517His)
c.1632G>T (p.Gln544His)
9g.92719094C=CA1864361626BICD2c.1551G= (p.Gln517=)
c.1632G= (p.Gln544=)
9g.92719094C>GCA374037337BICD2c.1551G>C (p.Gln517His)
c.1632G>C (p.Gln544His)
9g.92719094C>TCA196340555BICD2c.1551G>A (p.Gln517=)
c.1632G>A (p.Gln544=)
 ClinVar dbSNP gnomAD v4
9g.92719095T>ACA374037344BICD2c.1550A>T (p.Gln517Leu)
c.1631A>T (p.Gln544Leu)
9g.92719095T>CCA374037350BICD2c.1550A>G (p.Gln517Arg)
c.1631A>G (p.Gln544Arg)
 gnomAD v4
9g.92719095T>GCA374037354BICD2c.1550A>C (p.Gln517Pro)
c.1631A>C (p.Gln544Pro)
9g.92719096G>ACA374037359BICD2c.1549C>T (p.Gln517Ter)
c.1630C>T (p.Gln544Ter)
9g.92719096G>CCA374037358BICD2c.1549C>G (p.Gln517Glu)
c.1630C>G (p.Gln544Glu)
9g.92719096G>TCA374037355BICD2c.1549C>A (p.Gln517Lys)
c.1630C>A (p.Gln544Lys)
9g.92719097T>ACA466342730BICD2c.1548A>T (p.Thr516=)
c.1629A>T (p.Thr543=)
9g.92719097T>CCA466342731BICD2c.1548A>G (p.Thr516=)
c.1629A>G (p.Thr543=)
9g.92719097T>GCA466342733BICD2c.1548A>C (p.Thr516=)
c.1629A>C (p.Thr543=)
 dbSNP gnomAD v4
9g.92719097T=CA1864361634BICD2c.1548A= (p.Thr516=)
c.1629A= (p.Thr543=)
9g.92719098G>ACA374037360BICD2c.1547C>T (p.Thr516Ile)
c.1628C>T (p.Thr543Ile)
9g.92719098G>CCA374037361BICD2c.1547C>G (p.Thr516Arg)
c.1628C>G (p.Thr543Arg)
9g.92719098G>TCA374037362BICD2c.1547C>A (p.Thr516Lys)
c.1628C>A (p.Thr543Lys)
9g.92719099T>ACA374037363BICD2c.1546A>T (p.Thr516Ser)
c.1627A>T (p.Thr543Ser)
9g.92719099T>CCA374037365BICD2c.1546A>G (p.Thr516Ala)
c.1627A>G (p.Thr543Ala)
9g.92719099T>GCA374037367BICD2c.1546A>C (p.Thr516Pro)
c.1627A>C (p.Thr543Pro)
 dbSNP
9g.92719099T=CA1864361641BICD2c.1546A= (p.Thr516=)
c.1627A= (p.Thr543=)
9g.92719100C>ACA374037369BICD2c.1545G>T (p.Glu515Asp)
c.1626G>T (p.Glu542Asp)
9g.92719100C>GCA374037371BICD2c.1545G>C (p.Glu515Asp)
c.1626G>C (p.Glu542Asp)
9g.92719100C>TCA466342735BICD2c.1545G>A (p.Glu515=)
c.1626G>A (p.Glu542=)
9g.92719101T>ACA374037374BICD2c.1544A>T (p.Glu515Val)
c.1625A>T (p.Glu542Val)
9g.92719101T>CCA374037377BICD2c.1544A>G (p.Glu515Gly)
c.1625A>G (p.Glu542Gly)
9g.92719101T>GCA374037380BICD2c.1544A>C (p.Glu515Ala)
c.1625A>C (p.Glu542Ala)
9g.92719102C>ACA374037390BICD2c.1543G>T (p.Glu515Ter)
c.1624G>T (p.Glu542Ter)
9g.92719102C=CA1864361645BICD2c.1543G= (p.Glu515=)
c.1624G= (p.Glu542=)
9g.92719102C>GCA374037392BICD2c.1543G>C (p.Glu515Gln)
c.1624G>C (p.Glu542Gln)
9g.92719102C>TCA374037389BICD2c.1543G>A (p.Glu515Lys)
c.1624G>A (p.Glu542Lys)
 ClinVar dbSNP gnomAD v4
9g.92719103G>ACA466342739BICD2c.1542C>T (p.Gly514=)
c.1623C>T (p.Gly541=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92719103G>CCA466342740BICD2c.1542C>G (p.Gly514=)
c.1623C>G (p.Gly541=)
9g.92719103G=CA1864361647BICD2c.1542C= (p.Gly514=)
c.1623C= (p.Gly541=)
9g.92719103G>TCA466342741BICD2c.1542C>A (p.Gly514=)
c.1623C>A (p.Gly541=)
 gnomAD v4
9g.92719104C>ACA374037403BICD2c.1541G>T (p.Gly514Val)
c.1622G>T (p.Gly541Val)
 ClinVar
9g.92719104C>GCA374037408BICD2c.1541G>C (p.Gly514Ala)
c.1622G>C (p.Gly541Ala)
9g.92719104C>TCA374037412BICD2c.1541G>A (p.Gly514Asp)
c.1622G>A (p.Gly541Asp)
 gnomAD v4
9g.92719105C>ACA374037416BICD2c.1540G>T (p.Gly514Cys)
c.1621G>T (p.Gly541Cys)
9g.92719105C=CA1864361655BICD2c.1540G= (p.Gly514=)
c.1621G= (p.Gly541=)
9g.92719105C>GCA374037420BICD2c.1540G>C (p.Gly514Arg)
c.1621G>C (p.Gly541Arg)
 dbSNP
9g.92719105C>TCA5126527BICD2c.1540G>A (p.Gly514Ser)
c.1621G>A (p.Gly541Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719106G>ACA5126528BICD2c.1539C>T (p.Ala513=)
c.1620C>T (p.Ala540=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719106G>CCA466342744BICD2c.1539C>G (p.Ala513=)
c.1620C>G (p.Ala540=)
9g.92719106G=CA1864361664BICD2c.1539C= (p.Ala513=)
c.1620C= (p.Ala540=)
9g.92719106G>TCA466342742BICD2c.1539C>A (p.Ala513=)
c.1620C>A (p.Ala540=)
 gnomAD v4
9g.92719107G>ACA374037433BICD2c.1538C>T (p.Ala513Val)
c.1619C>T (p.Ala540Val)
9g.92719107G>CCA374037437BICD2c.1538C>G (p.Ala513Gly)
c.1619C>G (p.Ala540Gly)
9g.92719107G>TCA374037439BICD2c.1538C>A (p.Ala513Asp)
c.1619C>A (p.Ala540Asp)
 gnomAD v4
9g.92719108C>ACA374037442BICD2c.1537G>T (p.Ala513Ser)
c.1618G>T (p.Ala540Ser)
9g.92719108C=CA1864361672BICD2c.1537G= (p.Ala513=)
c.1618G= (p.Ala540=)
9g.92719108C>GCA374037443BICD2c.1537G>C (p.Ala513Pro)
c.1618G>C (p.Ala540Pro)
9g.92719108C>TCA196340580BICD2c.1537G>A (p.Ala513Thr)
c.1618G>A (p.Ala540Thr)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.92719109G>ACA5126529BICD2c.1536C>T (p.Val512=)
c.1617C>T (p.Val539=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719109G>CCA466342745BICD2c.1536C>G (p.Val512=)
c.1617C>G (p.Val539=)
9g.92719109G=CA1864361675BICD2c.1536C= (p.Val512=)
c.1617C= (p.Val539=)
9g.92719109G>TCA466342746BICD2c.1536C>A (p.Val512=)
c.1617C>A (p.Val539=)
 gnomAD v4
9g.92719110A>CCA374037445BICD2c.1535T>G (p.Val512Gly)
c.1616T>G (p.Val539Gly)
9g.92719110A>GCA374037447BICD2c.1535T>C (p.Val512Ala)
c.1616T>C (p.Val539Ala)
9g.92719110A>TCA374037450BICD2c.1535T>A (p.Val512Asp)
c.1616T>A (p.Val539Asp)
9g.92719111C>ACA5126531BICD2c.1534G>T (p.Val512Phe)
c.1615G>T (p.Val539Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719111C=CA1864361684BICD2c.1534G= (p.Val512=)
c.1615G= (p.Val539=)
9g.92719111C>GCA374037455BICD2c.1534G>C (p.Val512Leu)
c.1615G>C (p.Val539Leu)
 dbSNP gnomAD v4
9g.92719111C>TCA5126530BICD2c.1534G>A (p.Val512Ile)
c.1615G>A (p.Val539Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719112G>ACA196340602BICD2c.1533C>T (p.Asp511=)
c.1614C>T (p.Asp538=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92719112G>CCA374037467BICD2c.1533C>G (p.Asp511Glu)
c.1614C>G (p.Asp538Glu)
9g.92719112G=CA1864361689BICD2c.1533C= (p.Asp511=)
c.1614C= (p.Asp538=)
9g.92719112G>TCA5126532BICD2c.1533C>A (p.Asp511Glu)
c.1614C>A (p.Asp538Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719113T>ACA374037471BICD2c.1532A>T (p.Asp511Val)
c.1613A>T (p.Asp538Val)
9g.92719113T>CCA374037480BICD2c.1532A>G (p.Asp511Gly)
c.1613A>G (p.Asp538Gly)
9g.92719113T>GCA374037483BICD2c.1532A>C (p.Asp511Ala)
c.1613A>C (p.Asp538Ala)
9g.92719114C>ACA374037488BICD2c.1531G>T (p.Asp511Tyr)
c.1612G>T (p.Asp538Tyr)
 gnomAD v4
9g.92719114C=CA1864361691BICD2c.1531G= (p.Asp511=)
c.1612G= (p.Asp538=)
9g.92719114C>GCA374037489BICD2c.1531G>C (p.Asp511His)
c.1612G>C (p.Asp538His)
 dbSNP
9g.92719114C>TCA374037490BICD2c.1531G>A (p.Asp511Asn)
c.1612G>A (p.Asp538Asn)
 gnomAD v4 COSMIC
9g.92719115G>ACA5126533BICD2c.1530C>T (p.Ser510=)
c.1611C>T (p.Ser537=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719115G>CCA374037493BICD2c.1530C>G (p.Ser510Arg)
c.1611C>G (p.Ser537Arg)
9g.92719115G=CA1864361696BICD2c.1530C= (p.Ser510=)
c.1611C= (p.Ser537=)
9g.92719115G>TCA374037491BICD2c.1530C>A (p.Ser510Arg)
c.1611C>A (p.Ser537Arg)
9g.92719116C>ACA374037501BICD2c.1529G>T (p.Ser510Ile)
c.1610G>T (p.Ser537Ile)
9g.92719116C>GCA374037497BICD2c.1529G>C (p.Ser510Thr)
c.1610G>C (p.Ser537Thr)
 gnomAD v4
9g.92719116C>TCA374037504BICD2c.1529G>A (p.Ser510Asn)
c.1610G>A (p.Ser537Asn)
9g.92719117T>ACA374037505BICD2c.1528A>T (p.Ser510Cys)
c.1609A>T (p.Ser537Cys)
9g.92719117T>CCA374037506BICD2c.1528A>G (p.Ser510Gly)
c.1609A>G (p.Ser537Gly)
9g.92719117T>GCA374037507BICD2c.1528A>C (p.Ser510Arg)
c.1609A>C (p.Ser537Arg)
9g.92719118C>ACA466342748BICD2c.1527G>T (p.Val509=)
c.1608G>T (p.Val536=)
9g.92719118C>GCA466342749BICD2c.1527G>C (p.Val509=)
c.1608G>C (p.Val536=)
9g.92719118C>TCA466342750BICD2c.1527G>A (p.Val509=)
c.1608G>A (p.Val536=)
9g.92719119A>CCA374037508BICD2c.1526T>G (p.Val509Gly)
c.1607T>G (p.Val536Gly)
9g.92719119A>GCA374037509BICD2c.1526T>C (p.Val509Ala)
c.1607T>C (p.Val536Ala)
9g.92719119A>TCA374037510BICD2c.1526T>A (p.Val509Glu)
c.1607T>A (p.Val536Glu)
9g.92719120C>ACA374037516BICD2c.1525G>T (p.Val509Leu)
c.1606G>T (p.Val536Leu)
9g.92719120C=CA1864361700BICD2c.1525G= (p.Val509=)
c.1606G= (p.Val536=)
9g.92719120C>GCA374037512BICD2c.1525G>C (p.Val509Leu)
c.1606G>C (p.Val536Leu)
9g.92719120C>TCA5126534BICD2c.1525G>A (p.Val509Met)
c.1606G>A (p.Val536Met)
 dbSNP ExAC gnomAD v3 gnomAD v4
9g.92719121C>ACA374037518BICD2c.1524G>T (p.Lys508Asn)
c.1605G>T (p.Lys535Asn)
9g.92719121C>GCA374037520BICD2c.1524G>C (p.Lys508Asn)
c.1605G>C (p.Lys535Asn)
9g.92719121C>TCA466342751BICD2c.1524G>A (p.Lys508=)
c.1605G>A (p.Lys535=)
9g.92719124_92719126delCA2580616229BICD2c.1522_1524del (p.Lys508del)
c.1603_1605del (p.Lys535del)
 ClinVar dbSNP
9g.92719122T>ACA374037524BICD2c.1523A>T (p.Lys508Met)
c.1604A>T (p.Lys535Met)
9g.92719122T>CCA374037536BICD2c.1523A>G (p.Lys508Arg)
c.1604A>G (p.Lys535Arg)
9g.92719122T>GCA143972BICD2c.1523A>C (p.Lys508Thr)
c.1604A>C (p.Lys535Thr)
 ClinVar dbSNP
9g.92719122T=CA1864361704BICD2c.1523A= (p.Lys508=)
c.1604A= (p.Lys535=)
9g.92719123T>ACA374037547BICD2c.1522A>T (p.Lys508Ter)
c.1603A>T (p.Lys535Ter)
9g.92719123T>CCA374037552BICD2c.1522A>G (p.Lys508Glu)
c.1603A>G (p.Lys535Glu)
9g.92719123T>GCA374037550BICD2c.1522A>C (p.Lys508Gln)
c.1603A>C (p.Lys535Gln)
9g.92719124C>ACA374037557BICD2c.1521G>T (p.Lys507Asn)
c.1602G>T (p.Lys534Asn)
9g.92719124C>GCA374037559BICD2c.1521G>C (p.Lys507Asn)
c.1602G>C (p.Lys534Asn)
9g.92719124C>TCA466342755BICD2c.1521G>A (p.Lys507=)
c.1602G>A (p.Lys534=)
9g.92719125T>ACA374037561BICD2c.1520A>T (p.Lys507Met)
c.1601A>T (p.Lys534Met)
 COSMIC
9g.92719125T>CCA374037564BICD2c.1520A>G (p.Lys507Arg)
c.1601A>G (p.Lys534Arg)
9g.92719125T>GCA374037578BICD2c.1520A>C (p.Lys507Thr)
c.1601A>C (p.Lys534Thr)
9g.92719126T>ACA374037581BICD2c.1519A>T (p.Lys507Ter)
c.1600A>T (p.Lys534Ter)
9g.92719126T>CCA374037589BICD2c.1519A>G (p.Lys507Glu)
c.1600A>G (p.Lys534Glu)
 gnomAD v4 COSMIC COSMIC
9g.92719126T>GCA374037590BICD2c.1519A>C (p.Lys507Gln)
c.1600A>C (p.Lys534Gln)
9g.92719127T>ACA466342758BICD2c.1518A>T (p.Leu506=)
c.1599A>T (p.Leu533=)
9g.92719127T>CCA466342759BICD2c.1518A>G (p.Leu506=)
c.1599A>G (p.Leu533=)
9g.92719127T>GCA466342760BICD2c.1518A>C (p.Leu506=)
c.1599A>C (p.Leu533=)
9g.92719128A>CCA374037591BICD2c.1517T>G (p.Leu506Arg)
c.1598T>G (p.Leu533Arg)
9g.92719128A>GCA374037592BICD2c.1517T>C (p.Leu506Pro)
c.1598T>C (p.Leu533Pro)
 ClinVar
9g.92719128A>TCA374037593BICD2c.1517T>A (p.Leu506Gln)
c.1598T>A (p.Leu533Gln)
9g.92719129G>ACA466342761BICD2c.1516C>T (p.Leu506=)
c.1597C>T (p.Leu533=)
9g.92719129G>CCA374037595BICD2c.1516C>G (p.Leu506Val)
c.1597C>G (p.Leu533Val)
9g.92719129G>TCA374037598BICD2c.1516C>A (p.Leu506Ile)
c.1597C>A (p.Leu533Ile)
 gnomAD v4
9g.92719130C>ACA374037604BICD2c.1515G>T (p.Glu505Asp)
c.1596G>T (p.Glu532Asp)
9g.92719130C=CA1864361714BICD2c.1515G= (p.Glu505=)
c.1596G= (p.Glu532=)
9g.92719130C>GCA374037609BICD2c.1515G>C (p.Glu505Asp)
c.1596G>C (p.Glu532Asp)
9g.92719130C>TCA5126535BICD2c.1515G>A (p.Glu505=)
c.1596G>A (p.Glu532=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719131T>ACA374037614BICD2c.1514A>T (p.Glu505Val)
c.1595A>T (p.Glu532Val)
9g.92719131T>CCA374037615BICD2c.1514A>G (p.Glu505Gly)
c.1595A>G (p.Glu532Gly)
9g.92719131T>GCA374037616BICD2c.1514A>C (p.Glu505Ala)
c.1595A>C (p.Glu532Ala)
9g.92719132C>ACA374037619BICD2c.1513G>T (p.Glu505Ter)
c.1594G>T (p.Glu532Ter)
9g.92719132C>GCA374037617BICD2c.1513G>C (p.Glu505Gln)
c.1594G>C (p.Glu532Gln)
9g.92719132C>TCA374037618BICD2c.1513G>A (p.Glu505Lys)
c.1594G>A (p.Glu532Lys)
9g.92719132_92719135delinsCCTTCA1864361717BICD2c.1510_1513delinsAAGG (p.Lys504=)
c.1591_1594delinsAAGG (p.Lys531=)

Number of alleles fetched