Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18785005C>ACA404878469COMPc.1805G>T (p.Gly602Val)
c.1646G>T (p.Gly549Val)
c.1706G>T (p.Gly569Val)
19g.18785005C>GCA404878472COMPc.1805G>C (p.Gly602Ala)
c.1646G>C (p.Gly549Ala)
c.1706G>C (p.Gly569Ala)
19g.18785005C>TCA404878483COMPc.1805G>A (p.Gly602Asp)
c.1646G>A (p.Gly549Asp)
c.1706G>A (p.Gly569Asp)
 gnomAD v4
19g.18785006C>ACA404878489COMPc.1804G>T (p.Gly602Cys)
c.1645G>T (p.Gly549Cys)
c.1705G>T (p.Gly569Cys)
19g.18785006C>GCA404878493COMPc.1804G>C (p.Gly602Arg)
c.1645G>C (p.Gly549Arg)
c.1705G>C (p.Gly569Arg)
19g.18785006C>TCA404878501COMPc.1804G>A (p.Gly602Ser)
c.1645G>A (p.Gly549Ser)
c.1705G>A (p.Gly569Ser)
19g.18785007A=CA2326524916COMPc.1803T= (p.Phe601=)
c.1644T= (p.Phe548=)
c.1704T= (p.Phe568=)
19g.18785007A>CCA404878502COMPc.1803T>G (p.Phe601Leu)
c.1644T>G (p.Phe548Leu)
c.1704T>G (p.Phe568Leu)
19g.18785007A>GCA9316266COMPc.1803T>C (p.Phe601=)
c.1644T>C (p.Phe548=)
c.1704T>C (p.Phe568=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785007A>TCA404878503COMPc.1803T>A (p.Phe601Leu)
c.1644T>A (p.Phe548Leu)
c.1704T>A (p.Phe568Leu)
 COSMIC
19g.18785008A>CCA404878507COMPc.1802T>G (p.Phe601Cys)
c.1643T>G (p.Phe548Cys)
c.1703T>G (p.Phe568Cys)
19g.18785008A>GCA404878509COMPc.1802T>C (p.Phe601Ser)
c.1643T>C (p.Phe548Ser)
c.1703T>C (p.Phe568Ser)
 gnomAD v4
19g.18785008A>TCA404878526COMPc.1802T>A (p.Phe601Tyr)
c.1643T>A (p.Phe548Tyr)
c.1703T>A (p.Phe568Tyr)
19g.18785009A>CCA404878541COMPc.1801T>G (p.Phe601Val)
c.1642T>G (p.Phe548Val)
c.1702T>G (p.Phe568Val)
19g.18785009A>GCA404878566COMPc.1801T>C (p.Phe601Leu)
c.1642T>C (p.Phe548Leu)
c.1702T>C (p.Phe568Leu)
19g.18785009A>TCA404878562COMPc.1801T>A (p.Phe601Ile)
c.1642T>A (p.Phe548Ile)
c.1702T>A (p.Phe568Ile)
19g.18785010G>ACA9316267COMPc.1800C>T (p.Ile600=)
c.1641C>T (p.Ile547=)
c.1701C>T (p.Ile567=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785010G>CCA306253652COMPc.1800C>G (p.Ile600Met)
c.1641C>G (p.Ile547Met)
c.1701C>G (p.Ile567Met)
 dbSNP
19g.18785010G=CA2326524917COMPc.1800C= (p.Ile600=)
c.1641C= (p.Ile547=)
c.1701C= (p.Ile567=)
19g.18785010G>TCA506052385COMPc.1800C>A (p.Ile600=)
c.1641C>A (p.Ile547=)
c.1701C>A (p.Ile567=)
19g.18785011A>CCA404878579COMPc.1799T>G (p.Ile600Ser)
c.1640T>G (p.Ile547Ser)
c.1700T>G (p.Ile567Ser)
19g.18785011A>GCA404878584COMPc.1799T>C (p.Ile600Thr)
c.1640T>C (p.Ile547Thr)
c.1700T>C (p.Ile567Thr)
 dbSNP gnomAD v4
19g.18785011A>TCA404878585COMPc.1799T>A (p.Ile600Asn)
c.1640T>A (p.Ile547Asn)
c.1700T>A (p.Ile567Asn)
19g.18785012T>ACA404878586COMPc.1798A>T (p.Ile600Phe)
c.1639A>T (p.Ile547Phe)
c.1699A>T (p.Ile567Phe)
19g.18785012T>CCA404878587COMPc.1798A>G (p.Ile600Val)
c.1639A>G (p.Ile547Val)
c.1699A>G (p.Ile567Val)
19g.18785012T>GCA404878589COMPc.1798A>C (p.Ile600Leu)
c.1639A>C (p.Ile547Leu)
c.1699A>C (p.Ile567Leu)
19g.18785013G>ACA506052389COMPc.1797C>T (p.Phe599=)
c.1638C>T (p.Phe546=)
c.1698C>T (p.Phe566=)
19g.18785013G>CCA404878595COMPc.1797C>G (p.Phe599Leu)
c.1638C>G (p.Phe546Leu)
c.1698C>G (p.Phe566Leu)
19g.18785013G>TCA404878610COMPc.1797C>A (p.Phe599Leu)
c.1638C>A (p.Phe546Leu)
c.1698C>A (p.Phe566Leu)
19g.18785014A>CCA404878616COMPc.1796T>G (p.Phe599Cys)
c.1637T>G (p.Phe546Cys)
c.1697T>G (p.Phe566Cys)
19g.18785014A>GCA404878620COMPc.1796T>C (p.Phe599Ser)
c.1637T>C (p.Phe546Ser)
c.1697T>C (p.Phe566Ser)
19g.18785014A>TCA404878614COMPc.1796T>A (p.Phe599Tyr)
c.1637T>A (p.Phe546Tyr)
c.1697T>A (p.Phe566Tyr)
19g.18785015A>CCA404878624COMPc.1795T>G (p.Phe599Val)
c.1636T>G (p.Phe546Val)
c.1696T>G (p.Phe566Val)
19g.18785015A>GCA404878625COMPc.1795T>C (p.Phe599Leu)
c.1636T>C (p.Phe546Leu)
c.1696T>C (p.Phe566Leu)
19g.18785015A>TCA404878626COMPc.1795T>A (p.Phe599Ile)
c.1636T>A (p.Phe546Ile)
c.1696T>A (p.Phe566Ile)
19g.18785016G>ACA506052394COMPc.1794C>T (p.Gly598=)
c.1635C>T (p.Gly545=)
c.1695C>T (p.Gly565=)
 gnomAD v4
19g.18785016G>CCA506052395COMPc.1794C>G (p.Gly598=)
c.1635C>G (p.Gly545=)
c.1695C>G (p.Gly565=)
 gnomAD v4
19g.18785016G>TCA506052396COMPc.1794C>A (p.Gly598=)
c.1635C>A (p.Gly545=)
c.1695C>A (p.Gly565=)
19g.18785017C>ACA404878629COMPc.1793G>T (p.Gly598Val)
c.1634G>T (p.Gly545Val)
c.1694G>T (p.Gly565Val)
19g.18785017C>GCA404878632COMPc.1793G>C (p.Gly598Ala)
c.1634G>C (p.Gly545Ala)
c.1694G>C (p.Gly565Ala)
19g.18785017C>TCA404878636COMPc.1793G>A (p.Gly598Asp)
c.1634G>A (p.Gly545Asp)
c.1694G>A (p.Gly565Asp)
 ClinVar
19g.18785019dupCA2583621579COMPc.1793dup (p.Phe599LeufsTer?)
c.1634dup (p.Phe546LeufsTer?)
c.1694dup (p.Phe566LeufsTer?)
 gnomAD v4
19g.18785018C>ACA404878647COMPc.1792G>T (p.Gly598Cys)
c.1633G>T (p.Gly545Cys)
c.1693G>T (p.Gly565Cys)
19g.18785018C=CA2326524918COMPc.1792G= (p.Gly598=)
c.1633G= (p.Gly545=)
c.1693G= (p.Gly565=)
19g.18785018C>GCA404878651COMPc.1792G>C (p.Gly598Arg)
c.1633G>C (p.Gly545Arg)
c.1693G>C (p.Gly565Arg)
19g.18785018C>TCA404878659COMPc.1792G>A (p.Gly598Ser)
c.1633G>A (p.Gly545Ser)
c.1693G>A (p.Gly565Ser)
 dbSNP
19g.18785019C>ACA506052400COMPc.1791G>T (p.Ala597=)
c.1632G>T (p.Ala544=)
c.1692G>T (p.Ala564=)
 gnomAD v4
19g.18785019C=CA2326524919COMPc.1791G= (p.Ala597=)
c.1632G= (p.Ala544=)
c.1692G= (p.Ala564=)
19g.18785019C>GCA506052401COMPc.1791G>C (p.Ala597=)
c.1632G>C (p.Ala544=)
c.1692G>C (p.Ala564=)
19g.18785019C>TCA506052405COMPc.1791G>A (p.Ala597=)
c.1632G>A (p.Ala544=)
c.1692G>A (p.Ala564=)
 dbSNP gnomAD v2 gnomAD v4
19g.18785020G>ACA404878663COMPc.1790C>T (p.Ala597Val)
c.1631C>T (p.Ala544Val)
c.1691C>T (p.Ala564Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785020G>CCA404878669COMPc.1790C>G (p.Ala597Gly)
c.1631C>G (p.Ala544Gly)
c.1691C>G (p.Ala564Gly)
19g.18785020G=CA2326524920COMPc.1790C= (p.Ala597=)
c.1631C= (p.Ala544=)
c.1691C= (p.Ala564=)
19g.18785020G>TCA404878671COMPc.1790C>A (p.Ala597Glu)
c.1631C>A (p.Ala544Glu)
c.1691C>A (p.Ala564Glu)
 dbSNP gnomAD v3 gnomAD v4
19g.18785021C>ACA404878689COMPc.1789G>T (p.Ala597Ser)
c.1630G>T (p.Ala544Ser)
c.1690G>T (p.Ala564Ser)
19g.18785021C>GCA404878687COMPc.1789G>C (p.Ala597Pro)
c.1630G>C (p.Ala544Pro)
c.1690G>C (p.Ala564Pro)
19g.18785021C>TCA404878680COMPc.1789G>A (p.Ala597Thr)
c.1630G>A (p.Ala544Thr)
c.1690G>A (p.Ala564Thr)
 gnomAD v4
19g.18785022A=CA2326524921COMPc.1788T= (p.Tyr596=)
c.1629T= (p.Tyr543=)
c.1689T= (p.Tyr563=)
19g.18785022A>CCA404878693COMPc.1788T>G (p.Tyr596Ter)
c.1629T>G (p.Tyr543Ter)
c.1689T>G (p.Tyr563Ter)
 gnomAD v4
19g.18785022A>GCA9316268COMPc.1788T>C (p.Tyr596=)
c.1629T>C (p.Tyr543=)
c.1689T>C (p.Tyr563=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785022A>TCA404878711COMPc.1788T>A (p.Tyr596Ter)
c.1629T>A (p.Tyr543Ter)
c.1689T>A (p.Tyr563Ter)
19g.18785023T>ACA404878716COMPc.1787A>T (p.Tyr596Phe)
c.1628A>T (p.Tyr543Phe)
c.1688A>T (p.Tyr563Phe)
19g.18785023T>CCA404878717COMPc.1787A>G (p.Tyr596Cys)
c.1628A>G (p.Tyr543Cys)
c.1688A>G (p.Tyr563Cys)
19g.18785023T>GCA404878718COMPc.1787A>C (p.Tyr596Ser)
c.1628A>C (p.Tyr543Ser)
c.1688A>C (p.Tyr563Ser)
19g.18785024A>CCA404878723COMPc.1786T>G (p.Tyr596Asp)
c.1627T>G (p.Tyr543Asp)
c.1687T>G (p.Tyr563Asp)
 gnomAD v4
19g.18785024A>GCA404878730COMPc.1786T>C (p.Tyr596His)
c.1627T>C (p.Tyr543His)
c.1687T>C (p.Tyr563His)
 gnomAD v4
19g.18785024A>TCA404878736COMPc.1786T>A (p.Tyr596Asn)
c.1627T>A (p.Tyr543Asn)
c.1687T>A (p.Tyr563Asn)
19g.18785025G>ACA506052413COMPc.1785C>T (p.Asp595=)
c.1626C>T (p.Asp542=)
c.1686C>T (p.Asp562=)
19g.18785025G>CCA404878741COMPc.1785C>G (p.Asp595Glu)
c.1626C>G (p.Asp542Glu)
c.1686C>G (p.Asp562Glu)
19g.18785025G>TCA404878742COMPc.1785C>A (p.Asp595Glu)
c.1626C>A (p.Asp542Glu)
c.1686C>A (p.Asp562Glu)
19g.18785026T>ACA404878743COMPc.1784A>T (p.Asp595Val)
c.1625A>T (p.Asp542Val)
c.1685A>T (p.Asp562Val)
19g.18785026T>CCA404878746COMPc.1784A>G (p.Asp595Gly)
c.1625A>G (p.Asp542Gly)
c.1685A>G (p.Asp562Gly)
19g.18785026T>GCA404878749COMPc.1784A>C (p.Asp595Ala)
c.1625A>C (p.Asp542Ala)
c.1685A>C (p.Asp562Ala)
19g.18785027C>ACA404878778COMPc.1783G>T (p.Asp595Tyr)
c.1624G>T (p.Asp542Tyr)
c.1684G>T (p.Asp562Tyr)
 gnomAD v4 COSMIC
19g.18785027C=CA2326524922COMPc.1783G= (p.Asp595=)
c.1624G= (p.Asp542=)
c.1684G= (p.Asp562=)
19g.18785027C>GCA404878779COMPc.1783G>C (p.Asp595His)
c.1624G>C (p.Asp542His)
c.1684G>C (p.Asp562His)
19g.18785027C>TCA404878759COMPc.1783G>A (p.Asp595Asn)
c.1624G>A (p.Asp542Asn)
c.1684G>A (p.Asp562Asn)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.18785028G>ACA9316269COMPc.1782C>T (p.Asp594=)
c.1623C>T (p.Asp541=)
c.1683C>T (p.Asp561=)
 dbSNP ExAC gnomAD v4
19g.18785028G>CCA404878783COMPc.1782C>G (p.Asp594Glu)
c.1623C>G (p.Asp541Glu)
c.1683C>G (p.Asp561Glu)
 gnomAD v4
19g.18785028G=CA2326524923COMPc.1782C= (p.Asp594=)
c.1623C= (p.Asp541=)
c.1683C= (p.Asp561=)
19g.18785028G>TCA404878785COMPc.1782C>A (p.Asp594Glu)
c.1623C>A (p.Asp541Glu)
c.1683C>A (p.Asp561Glu)
19g.18785029T>ACA404878791COMPc.1781A>T (p.Asp594Val)
c.1622A>T (p.Asp541Val)
c.1682A>T (p.Asp561Val)
19g.18785029T>CCA404878794COMPc.1781A>G (p.Asp594Gly)
c.1622A>G (p.Asp541Gly)
c.1682A>G (p.Asp561Gly)
19g.18785029T>GCA404878800COMPc.1781A>C (p.Asp594Ala)
c.1622A>C (p.Asp541Ala)
c.1682A>C (p.Asp561Ala)
19g.18785030C>ACA404878806COMPc.1780G>T (p.Asp594Tyr)
c.1621G>T (p.Asp541Tyr)
c.1681G>T (p.Asp561Tyr)
 dbSNP gnomAD v2 gnomAD v4
19g.18785030C=CA2326524924COMPc.1780G= (p.Asp594=)
c.1621G= (p.Asp541=)
c.1681G= (p.Asp561=)
19g.18785030C>GCA404878810COMPc.1780G>C (p.Asp594His)
c.1621G>C (p.Asp541His)
c.1681G>C (p.Asp561His)
19g.18785030C>TCA404878811COMPc.1780G>A (p.Asp594Asn)
c.1621G>A (p.Asp541Asn)
c.1681G>A (p.Asp561Asn)
 gnomAD v4
19g.18785031A>CCA404878813COMPc.1779T>G (p.Asp593Glu)
c.1620T>G (p.Asp540Glu)
c.1680T>G (p.Asp560Glu)
19g.18785031A>GCA506052420COMPc.1779T>C (p.Asp593=)
c.1620T>C (p.Asp540=)
c.1680T>C (p.Asp560=)
 gnomAD v4
19g.18785031A>TCA404878816COMPc.1779T>A (p.Asp593Glu)
c.1620T>A (p.Asp540Glu)
c.1680T>A (p.Asp560Glu)
19g.18785032T>ACA404878834COMPc.1778A>T (p.Asp593Val)
c.1619A>T (p.Asp540Val)
c.1679A>T (p.Asp560Val)
19g.18785032T>CCA404878831COMPc.1778A>G (p.Asp593Gly)
c.1619A>G (p.Asp540Gly)
c.1679A>G (p.Asp560Gly)
 gnomAD v4
19g.18785032T>GCA404878828COMPc.1778A>C (p.Asp593Ala)
c.1619A>C (p.Asp540Ala)
c.1679A>C (p.Asp560Ala)
19g.18785033C>ACA404878838COMPc.1777G>T (p.Asp593Tyr)
c.1618G>T (p.Asp540Tyr)
c.1678G>T (p.Asp560Tyr)
19g.18785033C>GCA404878842COMPc.1777G>C (p.Asp593His)
c.1618G>C (p.Asp540His)
c.1678G>C (p.Asp560His)
19g.18785033C>TCA404878845COMPc.1777G>A (p.Asp593Asn)
c.1618G>A (p.Asp540Asn)
c.1678G>A (p.Asp560Asn)
19g.18785034C>ACA506052421COMPc.1776G>T (p.Thr592=)
c.1617G>T (p.Thr539=)
c.1677G>T (p.Thr559=)
19g.18785034C=CA2326524925COMPc.1776G= (p.Thr592=)
c.1617G= (p.Thr539=)
c.1677G= (p.Thr559=)
19g.18785034C>GCA506052422COMPc.1776G>C (p.Thr592=)
c.1617G>C (p.Thr539=)
c.1677G>C (p.Thr559=)
19g.18785034C>TCA9316270COMPc.1776G>A (p.Thr592=)
c.1617G>A (p.Thr539=)
c.1677G>A (p.Thr559=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785035G>ACA404878846COMPc.1775C>T (p.Thr592Met)
c.1616C>T (p.Thr539Met)
c.1676C>T (p.Thr559Met)
 ClinVar
19g.18785035G>CCA404878848COMPc.1775C>G (p.Thr592Arg)
c.1616C>G (p.Thr539Arg)
c.1676C>G (p.Thr559Arg)
 ClinVar
19g.18785035G>TCA404878850COMPc.1775C>A (p.Thr592Lys)
c.1616C>A (p.Thr539Lys)
c.1676C>A (p.Thr559Lys)
19g.18785036T>ACA404878853COMPc.1774A>T (p.Thr592Ser)
c.1615A>T (p.Thr539Ser)
c.1675A>T (p.Thr559Ser)
19g.18785036T>CCA404878859COMPc.1774A>G (p.Thr592Ala)
c.1615A>G (p.Thr539Ala)
c.1675A>G (p.Thr559Ala)
19g.18785036T>GCA404878861COMPc.1774A>C (p.Thr592Pro)
c.1615A>C (p.Thr539Pro)
c.1675A>C (p.Thr559Pro)
19g.18785037G>ACA506052424COMPc.1773C>T (p.Val591=)
c.1614C>T (p.Val538=)
c.1674C>T (p.Val558=)
19g.18785037G>CCA506052426COMPc.1773C>G (p.Val591=)
c.1614C>G (p.Val538=)
c.1674C>G (p.Val558=)
 gnomAD v4
19g.18785037G>TCA506052425COMPc.1773C>A (p.Val591=)
c.1614C>A (p.Val538=)
c.1674C>A (p.Val558=)
19g.18785038A>CCA404878864COMPc.1772T>G (p.Val591Gly)
c.1613T>G (p.Val538Gly)
c.1673T>G (p.Val558Gly)
19g.18785038A>GCA404878865COMPc.1772T>C (p.Val591Ala)
c.1613T>C (p.Val538Ala)
c.1673T>C (p.Val558Ala)
19g.18785038A>TCA404878867COMPc.1772T>A (p.Val591Asp)
c.1613T>A (p.Val538Asp)
c.1673T>A (p.Val558Asp)
19g.18785039C>ACA404878870COMPc.1771G>T (p.Val591Phe)
c.1612G>T (p.Val538Phe)
c.1672G>T (p.Val558Phe)
19g.18785039C=CA2326524926COMPc.1771G= (p.Val591=)
c.1612G= (p.Val538=)
c.1672G= (p.Val558=)
19g.18785039C>GCA404878872COMPc.1771G>C (p.Val591Leu)
c.1612G>C (p.Val538Leu)
c.1672G>C (p.Val558Leu)
19g.18785039C>TCA9316271COMPc.1771G>A (p.Val591Ile)
c.1612G>A (p.Val538Ile)
c.1672G>A (p.Val558Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785040C>ACA506052428COMPc.1770G>T (p.Thr590=)
c.1611G>T (p.Thr537=)
c.1671G>T (p.Thr557=)
19g.18785040C=CA2326524927COMPc.1770G= (p.Thr590=)
c.1611G= (p.Thr537=)
c.1671G= (p.Thr557=)
19g.18785040C>GCA506052429COMPc.1770G>C (p.Thr590=)
c.1611G>C (p.Thr537=)
c.1671G>C (p.Thr557=)
 dbSNP
19g.18785040C>TCA9316272COMPc.1770G>A (p.Thr590=)
c.1611G>A (p.Thr537=)
c.1671G>A (p.Thr557=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785041G>ACA9316273COMPc.1769C>T (p.Thr590Met)
c.1610C>T (p.Thr537Met)
c.1670C>T (p.Thr557Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785041G>CCA404878878COMPc.1769C>G (p.Thr590Arg)
c.1610C>G (p.Thr537Arg)
c.1670C>G (p.Thr557Arg)
19g.18785041G=CA2326524928COMPc.1769C= (p.Thr590=)
c.1610C= (p.Thr537=)
c.1670C= (p.Thr557=)
19g.18785041G>TCA404878881COMPc.1769C>A (p.Thr590Lys)
c.1610C>A (p.Thr537Lys)
c.1670C>A (p.Thr557Lys)
19g.18785042T>ACA404878889COMPc.1768A>T (p.Thr590Ser)
c.1609A>T (p.Thr537Ser)
c.1669A>T (p.Thr557Ser)
 gnomAD v4
19g.18785042T>CCA404878892COMPc.1768A>G (p.Thr590Ala)
c.1609A>G (p.Thr537Ala)
c.1669A>G (p.Thr557Ala)
 gnomAD v4
19g.18785042T>GCA404878895COMPc.1768A>C (p.Thr590Pro)
c.1609A>C (p.Thr537Pro)
c.1669A>C (p.Thr557Pro)
 dbSNP gnomAD v2 gnomAD v4
19g.18785042T=CA2326524929COMPc.1768A= (p.Thr590=)
c.1609A= (p.Thr537=)
c.1669A= (p.Thr557=)
19g.18785043G>ACA506052431COMPc.1767C>T (p.Asn589=)
c.1608C>T (p.Asn536=)
c.1668C>T (p.Asn556=)
 gnomAD v4
19g.18785043G>CCA404878905COMPc.1767C>G (p.Asn589Lys)
c.1608C>G (p.Asn536Lys)
c.1668C>G (p.Asn556Lys)
19g.18785043G=CA2326524930COMPc.1767C= (p.Asn589=)
c.1608C= (p.Asn536=)
c.1668C= (p.Asn556=)
19g.18785043G>TCA306253686COMPc.1767C>A (p.Asn589Lys)
c.1608C>A (p.Asn536Lys)
c.1668C>A (p.Asn556Lys)
 dbSNP gnomAD v4
19g.18785044T>ACA404878907COMPc.1766A>T (p.Asn589Ile)
c.1607A>T (p.Asn536Ile)
c.1667A>T (p.Asn556Ile)
19g.18785044T>CCA404878910COMPc.1766A>G (p.Asn589Ser)
c.1607A>G (p.Asn536Ser)
c.1667A>G (p.Asn556Ser)
19g.18785044T>GCA404878912COMPc.1766A>C (p.Asn589Thr)
c.1607A>C (p.Asn536Thr)
c.1667A>C (p.Asn556Thr)
 gnomAD v4
19g.18785045T>ACA404878917COMPc.1765A>T (p.Asn589Tyr)
c.1606A>T (p.Asn536Tyr)
c.1666A>T (p.Asn556Tyr)
19g.18785045T>CCA404878922COMPc.1765A>G (p.Asn589Asp)
c.1606A>G (p.Asn536Asp)
c.1666A>G (p.Asn556Asp)
19g.18785045T>GCA404878931COMPc.1765A>C (p.Asn589His)
c.1606A>C (p.Asn536His)
c.1666A>C (p.Asn556His)
 gnomAD v4
19g.18785046C>ACA506052437COMPc.1764G>T (p.Val588=)
c.1605G>T (p.Val535=)
c.1665G>T (p.Val555=)
19g.18785046C>GCA506052435COMPc.1764G>C (p.Val588=)
c.1605G>C (p.Val535=)
c.1665G>C (p.Val555=)
19g.18785046C>TCA506052436COMPc.1764G>A (p.Val588=)
c.1605G>A (p.Val535=)
c.1665G>A (p.Val555=)
19g.18785047A>CCA404878945COMPc.1763T>G (p.Val588Gly)
c.1604T>G (p.Val535Gly)
c.1664T>G (p.Val555Gly)
19g.18785047A>GCA404878935COMPc.1763T>C (p.Val588Ala)
c.1604T>C (p.Val535Ala)
c.1664T>C (p.Val555Ala)
 gnomAD v4
19g.18785047A>TCA404878942COMPc.1763T>A (p.Val588Glu)
c.1604T>A (p.Val535Glu)
c.1664T>A (p.Val555Glu)
19g.18785048C>ACA404878947COMPc.1762G>T (p.Val588Leu)
c.1603G>T (p.Val535Leu)
c.1663G>T (p.Val555Leu)
 gnomAD v4
19g.18785048C=CA2326524931COMPc.1762G= (p.Val588=)
c.1603G= (p.Val535=)
c.1663G= (p.Val555=)
19g.18785048C>GCA404878948COMPc.1762G>C (p.Val588Leu)
c.1603G>C (p.Val535Leu)
c.1663G>C (p.Val555Leu)
19g.18785048C>TCA404878949COMPc.1762G>A (p.Val588Met)
c.1603G>A (p.Val535Met)
c.1663G>A (p.Val555Met)
 dbSNP gnomAD v3 gnomAD v4
19g.18785049A>CCA404878951COMPc.1761T>G (p.His587Gln)
c.1602T>G (p.His534Gln)
c.1662T>G (p.His554Gln)
19g.18785049A>GCA506052439COMPc.1761T>C (p.His587=)
c.1602T>C (p.His534=)
c.1662T>C (p.His554=)
19g.18785049A>TCA404878973COMPc.1761T>A (p.His587Gln)
c.1602T>A (p.His534Gln)
c.1662T>A (p.His554Gln)
19g.18785050T>ACA404878978COMPc.1760A>T (p.His587Leu)
c.1601A>T (p.His534Leu)
c.1661A>T (p.His554Leu)
 ClinVar
19g.18785050T>CCA343862COMPc.1760A>G (p.His587Arg)
c.1601A>G (p.His534Arg)
c.1661A>G (p.His554Arg)
 ClinVar dbSNP
19g.18785050T>GCA404878985COMPc.1760A>C (p.His587Pro)
c.1601A>C (p.His534Pro)
c.1661A>C (p.His554Pro)
19g.18785050T=CA2326524932COMPc.1760A= (p.His587=)
c.1601A= (p.His534=)
c.1661A= (p.His554=)
19g.18785051G>ACA404878989COMPc.1759C>T (p.His587Tyr)
c.1600C>T (p.His534Tyr)
c.1660C>T (p.His554Tyr)
19g.18785051G>CCA404878993COMPc.1759C>G (p.His587Asp)
c.1600C>G (p.His534Asp)
c.1660C>G (p.His554Asp)
19g.18785051G>TCA404878996COMPc.1759C>A (p.His587Asn)
c.1600C>A (p.His534Asn)
c.1660C>A (p.His554Asn)
19g.18785052G>ACA506052440COMPc.1758C>T (p.Phe586=)
c.1599C>T (p.Phe533=)
c.1659C>T (p.Phe553=)
 ClinVar
19g.18785052G>CCA404878998COMPc.1758C>G (p.Phe586Leu)
c.1599C>G (p.Phe533Leu)
c.1659C>G (p.Phe553Leu)
19g.18785052G>TCA404878999COMPc.1758C>A (p.Phe586Leu)
c.1599C>A (p.Phe533Leu)
c.1659C>A (p.Phe553Leu)
19g.18785053A>CCA404879003COMPc.1757T>G (p.Phe586Cys)
c.1598T>G (p.Phe533Cys)
c.1658T>G (p.Phe553Cys)
19g.18785053A>GCA404879005COMPc.1757T>C (p.Phe586Ser)
c.1598T>C (p.Phe533Ser)
c.1658T>C (p.Phe553Ser)
19g.18785053A>TCA404879004COMPc.1757T>A (p.Phe586Tyr)
c.1598T>A (p.Phe533Tyr)
c.1658T>A (p.Phe553Tyr)
19g.18785054A>CCA404879006COMPc.1756T>G (p.Phe586Val)
c.1597T>G (p.Phe533Val)
c.1657T>G (p.Phe553Val)
19g.18785054A>GCA404879009COMPc.1756T>C (p.Phe586Leu)
c.1597T>C (p.Phe533Leu)
c.1657T>C (p.Phe553Leu)
19g.18785054A>TCA404879012COMPc.1756T>A (p.Phe586Ile)
c.1597T>A (p.Phe533Ile)
c.1657T>A (p.Phe553Ile)
19g.18785055C>ACA10587298COMPc.1755G>T (p.Thr585=)
c.1596G>T (p.Thr532=)
c.1656G>T (p.Thr552=)
 ClinVar dbSNP
19g.18785055C=CA2326524933COMPc.1755G= (p.Thr585=)
c.1596G= (p.Thr532=)
c.1656G= (p.Thr552=)
19g.18785055C>GCA506052443COMPc.1755G>C (p.Thr585=)
c.1596G>C (p.Thr532=)
c.1656G>C (p.Thr552=)
19g.18785055C>TCA9316274COMPc.1755G>A (p.Thr585=)
c.1596G>A (p.Thr532=)
c.1656G>A (p.Thr552=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785056G>ACA343861COMPc.1754C>T (p.Thr585Met)
c.1595C>T (p.Thr532Met)
c.1655C>T (p.Thr552Met)
 ClinVar dbSNP
19g.18785056G>CCA343860COMPc.1754C>G (p.Thr585Arg)
c.1595C>G (p.Thr532Arg)
c.1655C>G (p.Thr552Arg)
 ClinVar dbSNP
19g.18785056G=CA2326524934COMPc.1754C= (p.Thr585=)
c.1595C= (p.Thr532=)
c.1655C= (p.Thr552=)
19g.18785056G>TCA343858COMPc.1754C>A (p.Thr585Lys)
c.1595C>A (p.Thr532Lys)
c.1655C>A (p.Thr552Lys)
 ClinVar dbSNP
19g.18785057T>ACA404879045COMPc.1753A>T (p.Thr585Ser)
c.1594A>T (p.Thr532Ser)
c.1654A>T (p.Thr552Ser)
19g.18785057T>CCA404879046COMPc.1753A>G (p.Thr585Ala)
c.1594A>G (p.Thr532Ala)
c.1654A>G (p.Thr552Ala)
 dbSNP gnomAD v4
19g.18785057T>GCA404879051COMPc.1753A>C (p.Thr585Pro)
c.1594A>C (p.Thr532Pro)
c.1654A>C (p.Thr552Pro)
19g.18785057T=CA2326524935COMPc.1753A= (p.Thr585=)
c.1594A= (p.Thr532=)
c.1654A= (p.Thr552=)
19g.18785058G>ACA306253730COMPc.1752C>T (p.Gly584=)
c.1593C>T (p.Gly531=)
c.1653C>T (p.Gly551=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785058G>CCA506052446COMPc.1752C>G (p.Gly584=)
c.1593C>G (p.Gly531=)
c.1653C>G (p.Gly551=)
19g.18785058G=CA2326524936COMPc.1752C= (p.Gly584=)
c.1593C= (p.Gly531=)
c.1653C= (p.Gly551=)
19g.18785058G>TCA506052447COMPc.1752C>A (p.Gly584=)
c.1593C>A (p.Gly531=)
c.1653C>A (p.Gly551=)
 gnomAD v4
19g.18785058_18785066delinsGCCCTCGAACA2326524937COMPc.1744_1752delinsTTCGAGGGC (p.Phe582=)
c.1585_1593delinsTTCGAGGGC (p.Phe529=)
c.1645_1653delinsTTCGAGGGC (p.Phe549=)
19g.18785059C>ACA404879057COMPc.1751G>T (p.Gly584Val)
c.1592G>T (p.Gly531Val)
c.1652G>T (p.Gly551Val)
19g.18785059C>GCA404879060COMPc.1751G>C (p.Gly584Ala)
c.1592G>C (p.Gly531Ala)
c.1652G>C (p.Gly551Ala)
19g.18785059C>TCA404879070COMPc.1751G>A (p.Gly584Asp)
c.1592G>A (p.Gly531Asp)
c.1652G>A (p.Gly551Asp)
 gnomAD v4
19g.18785059_18785066delCA2326524938COMPc.1744_1751del (p.Phe582HisfsTer10)
c.1585_1592del (p.Phe529HisfsTer10)
c.1645_1652del (p.Phe549HisfsTer10)
 dbSNP
19g.18785060C>ACA404879076COMPc.1750G>T (p.Gly584Cys)
c.1591G>T (p.Gly531Cys)
c.1651G>T (p.Gly551Cys)
19g.18785060C>GCA404879095COMPc.1750G>C (p.Gly584Arg)
c.1591G>C (p.Gly531Arg)
c.1651G>C (p.Gly551Arg)
 gnomAD v4
19g.18785060C>TCA404879079COMPc.1750G>A (p.Gly584Ser)
c.1591G>A (p.Gly531Ser)
c.1651G>A (p.Gly551Ser)
19g.18785061C>ACA404879102COMPc.1749G>T (p.Glu583Asp)
c.1590G>T (p.Glu530Asp)
c.1650G>T (p.Glu550Asp)
19g.18785061C=CA2326524939COMPc.1749G= (p.Glu583=)
c.1590G= (p.Glu530=)
c.1650G= (p.Glu550=)
19g.18785061C>GCA404879104COMPc.1749G>C (p.Glu583Asp)
c.1590G>C (p.Glu530Asp)
c.1650G>C (p.Glu550Asp)
19g.18785061C>TCA506052449COMPc.1749G>A (p.Glu583=)
c.1590G>A (p.Glu530=)
c.1650G>A (p.Glu550=)
 dbSNP gnomAD v4
19g.18785062T>ACA404879110COMPc.1748A>T (p.Glu583Val)
c.1589A>T (p.Glu530Val)
c.1649A>T (p.Glu550Val)
19g.18785062T>CCA404879116COMPc.1748A>G (p.Glu583Gly)
c.1589A>G (p.Glu530Gly)
c.1649A>G (p.Glu550Gly)
19g.18785062T>GCA404879118COMPc.1748A>C (p.Glu583Ala)
c.1589A>C (p.Glu530Ala)
c.1649A>C (p.Glu550Ala)
19g.18785063C>ACA404879126COMPc.1747G>T (p.Glu583Ter)
c.1588G>T (p.Glu530Ter)
c.1648G>T (p.Glu550Ter)
19g.18785063C=CA2326524940COMPc.1747G= (p.Glu583=)
c.1588G= (p.Glu530=)
c.1648G= (p.Glu550=)
19g.18785063C>GCA306253731COMPc.1747G>C (p.Glu583Gln)
c.1588G>C (p.Glu530Gln)
c.1648G>C (p.Glu550Gln)
 dbSNP gnomAD v4 COSMIC
19g.18785063C>TCA343856COMPc.1747G>A (p.Glu583Lys)
c.1588G>A (p.Glu530Lys)
c.1648G>A (p.Glu550Lys)
 ClinVar dbSNP
19g.18785064G>ACA506052453COMPc.1746C>T (p.Phe582=)
c.1587C>T (p.Phe529=)
c.1647C>T (p.Phe549=)
 gnomAD v4 COSMIC
19g.18785064G>CCA404879141COMPc.1746C>G (p.Phe582Leu)
c.1587C>G (p.Phe529Leu)
c.1647C>G (p.Phe549Leu)
19g.18785064G>TCA404879144COMPc.1746C>A (p.Phe582Leu)
c.1587C>A (p.Phe529Leu)
c.1647C>A (p.Phe549Leu)
19g.18785065A>CCA404879156COMPc.1745T>G (p.Phe582Cys)
c.1586T>G (p.Phe529Cys)
c.1646T>G (p.Phe549Cys)
19g.18785065A>GCA404879153COMPc.1745T>C (p.Phe582Ser)
c.1586T>C (p.Phe529Ser)
c.1646T>C (p.Phe549Ser)
19g.18785065A>TCA404879147COMPc.1745T>A (p.Phe582Tyr)
c.1586T>A (p.Phe529Tyr)
c.1646T>A (p.Phe549Tyr)
19g.18785066A>CCA404879159COMPc.1744T>G (p.Phe582Val)
c.1585T>G (p.Phe529Val)
c.1645T>G (p.Phe549Val)
19g.18785066A>GCA404879160COMPc.1744T>C (p.Phe582Leu)
c.1585T>C (p.Phe529Leu)
c.1645T>C (p.Phe549Leu)
19g.18785066A>TCA404879164COMPc.1744T>A (p.Phe582Ile)
c.1585T>A (p.Phe529Ile)
c.1645T>A (p.Phe549Ile)
19g.18785067G>ACA506052455COMPc.1743C>T (p.Asp581=)
c.1584C>T (p.Asp528=)
c.1644C>T (p.Asp548=)
19g.18785067G>CCA404879169COMPc.1743C>G (p.Asp581Glu)
c.1584C>G (p.Asp528Glu)
c.1644C>G (p.Asp548Glu)
19g.18785067G>TCA404879170COMPc.1743C>A (p.Asp581Glu)
c.1584C>A (p.Asp528Glu)
c.1644C>A (p.Asp548Glu)
19g.18785068T>ACA404879176COMPc.1742A>T (p.Asp581Val)
c.1583A>T (p.Asp528Val)
c.1643A>T (p.Asp548Val)
19g.18785068T>CCA404879173COMPc.1742A>G (p.Asp581Gly)
c.1583A>G (p.Asp528Gly)
c.1643A>G (p.Asp548Gly)
 gnomAD v4
19g.18785068T>GCA404879171COMPc.1742A>C (p.Asp581Ala)
c.1583A>C (p.Asp528Ala)
c.1643A>C (p.Asp548Ala)
19g.18785069C>ACA404879177COMPc.1741G>T (p.Asp581Tyr)
c.1582G>T (p.Asp528Tyr)
c.1642G>T (p.Asp548Tyr)
19g.18785069C>GCA404879178COMPc.1741G>C (p.Asp581His)
c.1582G>C (p.Asp528His)
c.1642G>C (p.Asp548His)
 gnomAD v4
19g.18785069C>TCA404879179COMPc.1741G>A (p.Asp581Asn)
c.1582G>A (p.Asp528Asn)
c.1642G>A (p.Asp548Asn)
19g.18785070C>ACA506052457COMPc.1740G>T (p.Val580=)
c.1581G>T (p.Val527=)
c.1641G>T (p.Val547=)
19g.18785070C=CA2326524941COMPc.1740G= (p.Val580=)
c.1581G= (p.Val527=)
c.1641G= (p.Val547=)
19g.18785070C>GCA506052458COMPc.1740G>C (p.Val580=)
c.1581G>C (p.Val527=)
c.1641G>C (p.Val547=)
19g.18785070C>TCA506052459COMPc.1740G>A (p.Val580=)
c.1581G>A (p.Val527=)
c.1641G>A (p.Val547=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785071A>CCA404879185COMPc.1739T>G (p.Val580Gly)
c.1580T>G (p.Val527Gly)
c.1640T>G (p.Val547Gly)
19g.18785071A>GCA404879192COMPc.1739T>C (p.Val580Ala)
c.1580T>C (p.Val527Ala)
c.1640T>C (p.Val547Ala)
19g.18785071A>TCA404879198COMPc.1739T>A (p.Val580Glu)
c.1580T>A (p.Val527Glu)
c.1640T>A (p.Val547Glu)
19g.18785072C>ACA404879204COMPc.1738G>T (p.Val580Leu)
c.1579G>T (p.Val527Leu)
c.1639G>T (p.Val547Leu)
 gnomAD v4
19g.18785072C=CA2326524942COMPc.1738G= (p.Val580=)
c.1579G= (p.Val527=)
c.1639G= (p.Val547=)
19g.18785072C>GCA404879202COMPc.1738G>C (p.Val580Leu)
c.1579G>C (p.Val527Leu)
c.1639G>C (p.Val547Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.18785072C>TCA404879203COMPc.1738G>A (p.Val580Met)
c.1579G>A (p.Val527Met)
c.1639G>A (p.Val547Met)
 dbSNP gnomAD v3 gnomAD v4
19g.18785073G>ACA506052493COMPc.1737C>T (p.Gly579=)
c.1578C>T (p.Gly526=)
c.1638C>T (p.Gly546=)
 ClinVar dbSNP gnomAD v4
19g.18785073G>CCA506052496COMPc.1737C>G (p.Gly579=)
c.1578C>G (p.Gly526=)
c.1638C>G (p.Gly546=)
19g.18785073G=CA2326524943COMPc.1737C= (p.Gly579=)
c.1578C= (p.Gly526=)
c.1638C= (p.Gly546=)
19g.18785073G>TCA506052495COMPc.1737C>A (p.Gly579=)
c.1578C>A (p.Gly526=)
c.1638C>A (p.Gly546=)
19g.18785074C>ACA404879205COMPc.1736G>T (p.Gly579Val)
c.1577G>T (p.Gly526Val)
c.1637G>T (p.Gly546Val)
 COSMIC
19g.18785074C>GCA404879210COMPc.1736G>C (p.Gly579Ala)
c.1577G>C (p.Gly526Ala)
c.1637G>C (p.Gly546Ala)
19g.18785074C>TCA404879212COMPc.1736G>A (p.Gly579Asp)
c.1577G>A (p.Gly526Asp)
c.1637G>A (p.Gly546Asp)
19g.18785075C>ACA404879214COMPc.1735G>T (p.Gly579Cys)
c.1576G>T (p.Gly526Cys)
c.1636G>T (p.Gly546Cys)
19g.18785075C=CA2326524944COMPc.1735G= (p.Gly579=)
c.1576G= (p.Gly526=)
c.1636G= (p.Gly546=)
19g.18785075C>GCA404879216COMPc.1735G>C (p.Gly579Arg)
c.1576G>C (p.Gly526Arg)
c.1636G>C (p.Gly546Arg)
19g.18785075C>TCA404879220COMPc.1735G>A (p.Gly579Ser)
c.1576G>A (p.Gly526Ser)
c.1636G>A (p.Gly546Ser)
 dbSNP COSMIC
19g.18785076A=CA2326524945COMPc.1734T= (p.Asn578=)
c.1575T= (p.Asn525=)
c.1635T= (p.Asn545=)
19g.18785076A>CCA404879227COMPc.1734T>G (p.Asn578Lys)
c.1575T>G (p.Asn525Lys)
c.1635T>G (p.Asn545Lys)
19g.18785076A>GCA9316276COMPc.1734T>C (p.Asn578=)
c.1575T>C (p.Asn525=)
c.1635T>C (p.Asn545=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785076A>TCA404879249COMPc.1734T>A (p.Asn578Lys)
c.1575T>A (p.Asn525Lys)
c.1635T>A (p.Asn545Lys)
19g.18785077T>ACA404879256COMPc.1733A>T (p.Asn578Ile)
c.1574A>T (p.Asn525Ile)
c.1634A>T (p.Asn545Ile)
19g.18785077T>CCA404879267COMPc.1733A>G (p.Asn578Ser)
c.1574A>G (p.Asn525Ser)
c.1634A>G (p.Asn545Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785077T>GCA404879271COMPc.1733A>C (p.Asn578Thr)
c.1574A>C (p.Asn525Thr)
c.1634A>C (p.Asn545Thr)
19g.18785077T=CA2326524946COMPc.1733A= (p.Asn578=)
c.1574A= (p.Asn525=)
c.1634A= (p.Asn545=)
19g.18785078dupCA9316275COMPc.1733dup (p.Asn578LysfsTer17)
c.1574dup (p.Asn525LysfsTer17)
c.1634dup (p.Asn545LysfsTer17)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785078T>ACA404879283COMPc.1732A>T (p.Asn578Tyr)
c.1573A>T (p.Asn525Tyr)
c.1633A>T (p.Asn545Tyr)
19g.18785078T>CCA404879286COMPc.1732A>G (p.Asn578Asp)
c.1573A>G (p.Asn525Asp)
c.1633A>G (p.Asn545Asp)
19g.18785078T>GCA404879284COMPc.1732A>C (p.Asn578His)
c.1573A>C (p.Asn525His)
c.1633A>C (p.Asn545His)
19g.18785079G>ACA9316277COMPc.1731C>T (p.Phe577=)
c.1572C>T (p.Phe524=)
c.1632C>T (p.Phe544=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785079G>CCA404879291COMPc.1731C>G (p.Phe577Leu)
c.1572C>G (p.Phe524Leu)
c.1632C>G (p.Phe544Leu)
19g.18785079G=CA2326524947COMPc.1731C= (p.Phe577=)
c.1572C= (p.Phe524=)
c.1632C= (p.Phe544=)
19g.18785079G>TCA404879301COMPc.1731C>A (p.Phe577Leu)
c.1572C>A (p.Phe524Leu)
c.1632C>A (p.Phe544Leu)
19g.18785080A>CCA404879309COMPc.1730T>G (p.Phe577Cys)
c.1571T>G (p.Phe524Cys)
c.1631T>G (p.Phe544Cys)
19g.18785080A>GCA404879314COMPc.1730T>C (p.Phe577Ser)
c.1571T>C (p.Phe524Ser)
c.1631T>C (p.Phe544Ser)
19g.18785080A>TCA404879317COMPc.1730T>A (p.Phe577Tyr)
c.1571T>A (p.Phe524Tyr)
c.1631T>A (p.Phe544Tyr)
19g.18785081A>CCA404879318COMPc.1729T>G (p.Phe577Val)
c.1570T>G (p.Phe524Val)
c.1630T>G (p.Phe544Val)
19g.18785081A>GCA404879320COMPc.1729T>C (p.Phe577Leu)
c.1570T>C (p.Phe524Leu)
c.1630T>C (p.Phe544Leu)
19g.18785081A>TCA404879323COMPc.1729T>A (p.Phe577Ile)
c.1570T>A (p.Phe524Ile)
c.1630T>A (p.Phe544Ile)
19g.18785082G>ACA506052503COMPc.1728C>T (p.Ala576=)
c.1569C>T (p.Ala523=)
c.1629C>T (p.Ala543=)
19g.18785082G>CCA506052502COMPc.1728C>G (p.Ala576=)
c.1569C>G (p.Ala523=)
c.1629C>G (p.Ala543=)
19g.18785082G>TCA506052501COMPc.1728C>A (p.Ala576=)
c.1569C>A (p.Ala523=)
c.1629C>A (p.Ala543=)
19g.18785083G>ACA404879334COMPc.1727C>T (p.Ala576Val)
c.1568C>T (p.Ala523Val)
c.1628C>T (p.Ala543Val)
19g.18785083G>CCA404879336COMPc.1727C>G (p.Ala576Gly)
c.1568C>G (p.Ala523Gly)
c.1628C>G (p.Ala543Gly)
19g.18785083G>TCA404879340COMPc.1727C>A (p.Ala576Asp)
c.1568C>A (p.Ala523Asp)
c.1628C>A (p.Ala543Asp)
 gnomAD v4
19g.18785084C>ACA404879351COMPc.1726G>T (p.Ala576Ser)
c.1567G>T (p.Ala523Ser)
c.1627G>T (p.Ala543Ser)
19g.18785084C>GCA404879349COMPc.1726G>C (p.Ala576Pro)
c.1567G>C (p.Ala523Pro)
c.1627G>C (p.Ala543Pro)
19g.18785084C>TCA404879345COMPc.1726G>A (p.Ala576Thr)
c.1567G>A (p.Ala523Thr)
c.1627G>A (p.Ala543Thr)
 gnomAD v4
19g.18785085A=CA2326524948COMPc.1725T= (p.Thr575=)
c.1566T= (p.Thr522=)
c.1626T= (p.Thr542=)
19g.18785085A>CCA306253742COMPc.1725T>G (p.Thr575=)
c.1566T>G (p.Thr522=)
c.1626T>G (p.Thr542=)
 dbSNP
19g.18785085A>GCA506052506COMPc.1725T>C (p.Thr575=)
c.1566T>C (p.Thr522=)
c.1626T>C (p.Thr542=)
19g.18785085A>TCA506052507COMPc.1725T>A (p.Thr575=)
c.1566T>A (p.Thr522=)
c.1626T>A (p.Thr542=)
19g.18785086G>ACA404879357COMPc.1724C>T (p.Thr575Ile)
c.1565C>T (p.Thr522Ile)
c.1625C>T (p.Thr542Ile)
19g.18785086G>CCA404879358COMPc.1724C>G (p.Thr575Ser)
c.1565C>G (p.Thr522Ser)
c.1625C>G (p.Thr542Ser)
19g.18785086G>TCA404879359COMPc.1724C>A (p.Thr575Asn)
c.1565C>A (p.Thr522Asn)
c.1625C>A (p.Thr542Asn)
19g.18785087T>ACA404879360COMPc.1723A>T (p.Thr575Ser)
c.1564A>T (p.Thr522Ser)
c.1624A>T (p.Thr542Ser)
 ClinVar gnomAD v4
19g.18785087T>CCA404879362COMPc.1723A>G (p.Thr575Ala)
c.1564A>G (p.Thr522Ala)
c.1624A>G (p.Thr542Ala)
 dbSNP
19g.18785087T>GCA404879389COMPc.1723A>C (p.Thr575Pro)
c.1564A>C (p.Thr522Pro)
c.1624A>C (p.Thr542Pro)
19g.18785087T=CA2326524949COMPc.1723A= (p.Thr575=)
c.1564A= (p.Thr522=)
c.1624A= (p.Thr542=)
19g.18785088G>ACA506052508COMPc.1722C>T (p.Tyr574=)
c.1563C>T (p.Tyr521=)
c.1623C>T (p.Tyr541=)
19g.18785088G>CCA404879394COMPc.1722C>G (p.Tyr574Ter)
c.1563C>G (p.Tyr521Ter)
c.1623C>G (p.Tyr541Ter)
19g.18785088G>TCA404879399COMPc.1722C>A (p.Tyr574Ter)
c.1563C>A (p.Tyr521Ter)
c.1623C>A (p.Tyr541Ter)
19g.18785089T>ACA404879404COMPc.1721A>T (p.Tyr574Phe)
c.1562A>T (p.Tyr521Phe)
c.1622A>T (p.Tyr541Phe)
19g.18785089T>CCA404879406COMPc.1721A>G (p.Tyr574Cys)
c.1562A>G (p.Tyr521Cys)
c.1622A>G (p.Tyr541Cys)
19g.18785089T>GCA404879412COMPc.1721A>C (p.Tyr574Ser)
c.1562A>C (p.Tyr521Ser)
c.1622A>C (p.Tyr541Ser)
19g.18785090A>CCA404879425COMPc.1720T>G (p.Tyr574Asp)
c.1561T>G (p.Tyr521Asp)
c.1621T>G (p.Tyr541Asp)
19g.18785090A>GCA404879422COMPc.1720T>C (p.Tyr574His)
c.1561T>C (p.Tyr521His)
c.1621T>C (p.Tyr541His)
19g.18785090A>TCA404879417COMPc.1720T>A (p.Tyr574Asn)
c.1561T>A (p.Tyr521Asn)
c.1621T>A (p.Tyr541Asn)
19g.18785091A>CCA506052509COMPc.1719T>G (p.Gly573=)
c.1560T>G (p.Gly520=)
c.1620T>G (p.Gly540=)
19g.18785091A>GCA506052510COMPc.1719T>C (p.Gly573=)
c.1560T>C (p.Gly520=)
c.1620T>C (p.Gly540=)
19g.18785091A>TCA506052511COMPc.1719T>A (p.Gly573=)
c.1560T>A (p.Gly520=)
c.1620T>A (p.Gly540=)
19g.18785092C>ACA404879432COMPc.1718G>T (p.Gly573Val)
c.1559G>T (p.Gly520Val)
c.1619G>T (p.Gly540Val)
19g.18785092C>GCA404879450COMPc.1718G>C (p.Gly573Ala)
c.1559G>C (p.Gly520Ala)
c.1619G>C (p.Gly540Ala)
19g.18785092C>TCA404879439COMPc.1718G>A (p.Gly573Asp)
c.1559G>A (p.Gly520Asp)
c.1619G>A (p.Gly540Asp)
 gnomAD v4
19g.18785093C>ACA404879454COMPc.1718-1G>T (n.1718-1G>T)
c.1559-1G>T (n.1559-1G>T)
c.1619-1G>T (n.1619-1G>T)
19g.18785093C>GCA404879457COMPc.1718-1G>C (n.1718-1G>C)
c.1559-1G>C (n.1559-1G>C)
c.1619-1G>C (n.1619-1G>C)
19g.18785093C>TCA404879456COMPc.1718-1G>A (n.1718-1G>A)
c.1559-1G>A (n.1559-1G>A)
c.1619-1G>A (n.1619-1G>A)
19g.18785094T>ACA404879459COMPc.1718-2A>T (n.1718-2A>T)
c.1559-2A>T (n.1559-2A>T)
c.1619-2A>T (n.1619-2A>T)
19g.18785094T>CCA404879469COMPc.1718-2A>G (n.1718-2A>G)
c.1559-2A>G (n.1559-2A>G)
c.1619-2A>G (n.1619-2A>G)
19g.18785094T>GCA404879464COMPc.1718-2A>C (n.1718-2A>C)
c.1559-2A>C (n.1559-2A>C)
c.1619-2A>C (n.1619-2A>C)
19g.18785095A=CA2326524952COMPc.1718-3T= (n.1718-3T=)
c.1559-3T= (n.1559-3T=)
c.1619-3T= (n.1619-3T=)
19g.18785095A>CCA2326524950COMPc.1718-3T>G (n.1718-3T>G)
c.1559-3T>G (n.1559-3T>G)
c.1619-3T>G (n.1619-3T>G)
 dbSNP
19g.18785095A>GCA2583621580COMPc.1718-3T>C (n.1718-3T>C)
c.1559-3T>C (n.1559-3T>C)
c.1619-3T>C (n.1619-3T>C)
 gnomAD v4
19g.18785095_18785096delinsAGCA2326524951COMPc.1718-4_1718-3delinsCT (n.1718-4_1718-3delinsCT)
c.1559-4_1559-3delinsCT (n.1559-4_1559-3delinsCT)
c.1619-4_1619-3delinsCT (n.1619-4_1619-3delinsCT)
19g.18785096G>ACA9316278COMPc.1718-4C>T (n.1718-4C>T)
c.1559-4C>T (n.1559-4C>T)
c.1619-4C>T (n.1619-4C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785096G=CA2326524954COMPc.1718-4C= (n.1718-4C=)
c.1559-4C= (n.1559-4C=)
c.1619-4C= (n.1619-4C=)
19g.18785098delCA2326524953COMPc.1718-4del (n.1718-4del)
c.1559-4del (n.1559-4del)
c.1619-4del (n.1619-4del)
 dbSNP gnomAD v3 gnomAD v4
19g.18785097G>ACA2583621581COMPc.1718-5C>T (n.1718-5C>T)
c.1559-5C>T (n.1559-5C>T)
c.1619-5C>T (n.1619-5C>T)
 gnomAD v4
19g.18785098G>ACA9316279COMPc.1718-6C>T (n.1718-6C>T)
c.1559-6C>T (n.1559-6C>T)
c.1619-6C>T (n.1619-6C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785098G=CA2326524955COMPc.1718-6C= (n.1718-6C=)
c.1559-6C= (n.1559-6C=)
c.1619-6C= (n.1619-6C=)
19g.18785099A=CA2326524956COMPc.1718-7T= (n.1718-7T=)
c.1559-7T= (n.1559-7T=)
c.1619-7T= (n.1619-7T=)
19g.18785099A>GCA306253766COMPc.1718-7T>C (n.1718-7T>C)
c.1559-7T>C (n.1559-7T>C)
c.1619-7T>C (n.1619-7T>C)
 dbSNP gnomAD v3 gnomAD v4
19g.18785099A>TCA2576725714COMPc.1718-7T>A (n.1718-7T>A)
c.1559-7T>A (n.1559-7T>A)
c.1619-7T>A (n.1619-7T>A)
19g.18785102G>ACA9316280COMPc.1718-10C>T (n.1718-10C>T)
c.1559-10C>T (n.1559-10C>T)
c.1619-10C>T (n.1619-10C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785102G>CCA9316281COMPc.1718-10C>G (n.1718-10C>G)
c.1559-10C>G (n.1559-10C>G)
c.1619-10C>G (n.1619-10C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785102G=CA2326524957COMPc.1718-10C= (n.1718-10C=)
c.1559-10C= (n.1559-10C=)
c.1619-10C= (n.1619-10C=)
19g.18785103A>TCA2813846990COMPc.1718-11T>A (n.1718-11T>A)
c.1559-11T>A (n.1559-11T>A)
c.1619-11T>A (n.1619-11T>A)
19g.18785104_18785105delCA2576725715COMPc.1718-12_1718-11del (n.1718-12_1718-11del)
c.1559-12_1559-11del (n.1559-12_1559-11del)
c.1619-12_1619-11del (n.1619-12_1619-11del)
 gnomAD v4
19g.18785105A=CA2326524958COMPc.1718-13T= (n.1718-13T=)
c.1559-13T= (n.1559-13T=)
c.1619-13T= (n.1619-13T=)
19g.18785105A>GCA632375509COMPc.1718-13T>C (n.1718-13T>C)
c.1559-13T>C (n.1559-13T>C)
c.1619-13T>C (n.1619-13T>C)
 dbSNP gnomAD v2 gnomAD v4
19g.18785109_18785110delCA2583621582COMPc.1718-14_1718-13del (n.1718-14_1718-13del)
c.1559-14_1559-13del (n.1559-14_1559-13del)
c.1619-14_1619-13del (n.1619-14_1619-13del)
 gnomAD v4

Number of alleles fetched