Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.43352576T>ACA807012MPLc.1712T>A (p.Leu571His)
c.1691T>A (p.Leu564His)
c.370T>A
c.1883T>A (p.Leu628His)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43352576T>CCA339993581MPLc.1712T>C (p.Leu571Pro)
c.1691T>C (p.Leu564Pro)
c.370T>C
c.1883T>C (p.Leu628Pro)
1g.43352576T>GCA339993585MPLc.1712T>G (p.Leu571Arg)
c.1691T>G (p.Leu564Arg)
c.370T>G
c.1883T>G (p.Leu628Arg)
1g.43352576T=CA1165581361MPLc.1712T= (p.Leu571=)
c.1691T= (p.Leu564=)
c.370T=
c.1883T= (p.Leu628=)
1g.43352577C>ACA417428072MPLc.1713C>A (p.Leu571=)
c.1692C>A (p.Leu564=)
c.371C>A
c.1884C>A (p.Leu628=)
1g.43352577C>GCA417428076MPLc.1713C>G (p.Leu571=)
c.1692C>G (p.Leu564=)
c.371C>G
c.1884C>G (p.Leu628=)
1g.43352577C>TCA417428079MPLc.1713C>T (p.Leu571=)
c.1692C>T (p.Leu564=)
c.371C>T
c.1884C>T (p.Leu628=)
1g.43352578C>ACA339993603MPLc.1714C>A (p.Pro572Thr)
c.1693C>A (p.Pro565Thr)
c.372C>A
c.1885C>A (p.Pro629Thr)
 dbSNP
1g.43352578C>GCA339993599MPLc.1714C>G (p.Pro572Ala)
c.1693C>G (p.Pro565Ala)
c.372C>G
c.1885C>G (p.Pro629Ala)
1g.43352578C>TCA339993601MPLc.1714C>T (p.Pro572Ser)
c.1693C>T (p.Pro565Ser)
c.372C>T
c.1885C>T (p.Pro629Ser)
 dbSNP gnomAD v4
1g.43352579C>ACA339993605MPLc.1715C>A (p.Pro572His)
c.1694C>A (p.Pro565His)
c.373C>A
c.1886C>A (p.Pro629His)
 dbSNP
1g.43352579C=CA1165581362MPLc.1715C= (p.Pro572=)
c.1694C= (p.Pro565=)
c.373C=
c.1886C= (p.Pro629=)
1g.43352579C>GCA339993611MPLc.1715C>G (p.Pro572Arg)
c.1694C>G (p.Pro565Arg)
c.373C>G
c.1886C>G (p.Pro629Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.43352579C>TCA339993615MPLc.1715C>T (p.Pro572Leu)
c.1694C>T (p.Pro565Leu)
c.373C>T
c.1886C>T (p.Pro629Leu)
1g.43352580C>ACA417428098MPLc.1716C>A (p.Pro572=)
c.1695C>A (p.Pro565=)
c.374C>A
c.1887C>A (p.Pro629=)
 dbSNP
1g.43352580C=CA1165581363MPLc.1716C= (p.Pro572=)
c.1695C= (p.Pro565=)
c.374C=
c.1887C= (p.Pro629=)
1g.43352580C>GCA417428100MPLc.1716C>G (p.Pro572=)
c.1695C>G (p.Pro565=)
c.374C>G
c.1887C>G (p.Pro629=)
1g.43352580C>TCA417428109MPLc.1716C>T (p.Pro572=)
c.1695C>T (p.Pro565=)
c.374C>T
c.1887C>T (p.Pro629=)
1g.43352581A=CA1165581364MPLc.1717A= (p.Lys573=)
c.1696A= (p.Lys566=)
c.375A=
c.1888A= (p.Lys630=)
1g.43352581A>CCA339993623MPLc.1717A>C (p.Lys573Gln)
c.1696A>C (p.Lys566Gln)
c.375A>C
c.1888A>C (p.Lys630Gln)
1g.43352581A>GCA339993626MPLc.1717A>G (p.Lys573Glu)
c.1696A>G (p.Lys566Glu)
c.375A>G
c.1888A>G (p.Lys630Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.43352581A>TCA339993628MPLc.1717A>T (p.Lys573Ter)
c.1696A>T (p.Lys566Ter)
c.375A>T
c.1888A>T (p.Lys630Ter)
1g.43352582A>CCA339993631MPLc.1718A>C (p.Lys573Thr)
c.1697A>C (p.Lys566Thr)
c.376A>C
c.1889A>C (p.Lys630Thr)
1g.43352582A>GCA339993637MPLc.1718A>G (p.Lys573Arg)
c.1697A>G (p.Lys566Arg)
c.376A>G
c.1889A>G (p.Lys630Arg)
 gnomAD v4
1g.43352582A>TCA339993640MPLc.1718A>T (p.Lys573Met)
c.1697A>T (p.Lys566Met)
c.376A>T
c.1889A>T (p.Lys630Met)
1g.43352583G>ACA417428128MPLc.1719G>A (p.Lys573=)
c.1698G>A (p.Lys566=)
c.377G>A
c.1890G>A (p.Lys630=)
 ClinVar dbSNP
1g.43352583G>CCA807013MPLc.1719G>C (p.Lys573Asn)
c.1698G>C (p.Lys566Asn)
c.377G>C
c.1890G>C (p.Lys630Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.43352583G=CA1165581365MPLc.1719G= (p.Lys573=)
c.1698G= (p.Lys566=)
c.377G=
c.1890G= (p.Lys630=)
1g.43352583G>TCA339993644MPLc.1719G>T (p.Lys573Asn)
c.1698G>T (p.Lys566Asn)
c.377G>T
c.1890G>T (p.Lys630Asn)
1g.43352584T>ACA339993651MPLc.1720T>A (p.Ser574Thr)
c.1699T>A (p.Ser567Thr)
c.378T>A
c.1891T>A (p.Ser631Thr)
1g.43352584T>CCA339993650MPLc.1720T>C (p.Ser574Pro)
c.1699T>C (p.Ser567Pro)
c.378T>C
c.1891T>C (p.Ser631Pro)
1g.43352584T>GCA339993649MPLc.1720T>G (p.Ser574Ala)
c.1699T>G (p.Ser567Ala)
c.378T>G
c.1891T>G (p.Ser631Ala)
1g.43352585C>ACA339993655MPLc.1721C>A (p.Ser574Tyr)
c.1700C>A (p.Ser567Tyr)
c.379C>A
c.1892C>A (p.Ser631Tyr)
1g.43352585C>GCA339993657MPLc.1721C>G (p.Ser574Cys)
c.1700C>G (p.Ser567Cys)
c.379C>G
c.1892C>G (p.Ser631Cys)
 gnomAD v4
1g.43352585C>TCA339993661MPLc.1721C>T (p.Ser574Phe)
c.1700C>T (p.Ser567Phe)
c.379C>T
c.1892C>T (p.Ser631Phe)
 ClinVar
1g.43352586C>ACA417428152MPLc.1722C>A (p.Ser574=)
c.1701C>A (p.Ser567=)
c.380C>A
c.1893C>A (p.Ser631=)
 dbSNP
1g.43352586C>GCA417428154MPLc.1722C>G (p.Ser574=)
c.1701C>G (p.Ser567=)
c.380C>G
c.1893C>G (p.Ser631=)
1g.43352586C>TCA417428157MPLc.1722C>T (p.Ser574=)
c.1701C>T (p.Ser567=)
c.380C>T
c.1893C>T (p.Ser631=)
 dbSNP
1g.43352587T>ACA339993669MPLc.1723T>A (p.Ser575Thr)
c.1702T>A (p.Ser568Thr)
c.381T>A
c.1894T>A (p.Ser632Thr)
1g.43352587T>CCA339993674MPLc.1723T>C (p.Ser575Pro)
c.1702T>C (p.Ser568Pro)
c.381T>C
c.1894T>C (p.Ser632Pro)
1g.43352587T>GCA339993676MPLc.1723T>G (p.Ser575Ala)
c.1702T>G (p.Ser568Ala)
c.381T>G
c.1894T>G (p.Ser632Ala)
1g.43352588C>ACA339993687MPLc.1724C>A (p.Ser575Ter)
c.1703C>A (p.Ser568Ter)
c.382C>A
c.1895C>A (p.Ser632Ter)
1g.43352588C>GCA339993688MPLc.1724C>G (p.Ser575Ter)
c.1703C>G (p.Ser568Ter)
c.382C>G
c.1895C>G (p.Ser632Ter)
1g.43352588C>TCA339993689MPLc.1724C>T (p.Ser575Leu)
c.1703C>T (p.Ser568Leu)
c.382C>T
c.1895C>T (p.Ser632Leu)
 dbSNP
1g.43352589A>CCA417428174MPLc.1725A>C (p.Ser575=)
c.1704A>C (p.Ser568=)
c.383A>C
c.1896A>C (p.Ser632=)
1g.43352589A>GCA417428176MPLc.1725A>G (p.Ser575=)
c.1704A>G (p.Ser568=)
c.383A>G
c.1896A>G (p.Ser632=)
1g.43352589A>TCA417428179MPLc.1725A>T (p.Ser575=)
c.1704A>T (p.Ser568=)
c.383A>T
c.1896A>T (p.Ser632=)
1g.43352589dupCA2740090665MPLc.1725dup (p.Glu576ArgfsTer?)
c.1704dup (p.Glu569ArgfsTer?)
c.383dup
c.1896dup (p.Glu633ArgfsTer?)
 ClinVar
1g.43352590G>ACA339993692MPLc.1726G>A (p.Glu576Lys)
c.1705G>A (p.Glu569Lys)
c.384G>A
c.1897G>A (p.Glu633Lys)
1g.43352590G>CCA339993693MPLc.1726G>C (p.Glu576Gln)
c.1705G>C (p.Glu569Gln)
c.384G>C
c.1897G>C (p.Glu633Gln)
1g.43352590G>TCA339993694MPLc.1726G>T (p.Glu576Ter)
c.1705G>T (p.Glu569Ter)
c.384G>T
c.1897G>T (p.Glu633Ter)
1g.43352591A>CCA339993708MPLc.1727A>C (p.Glu576Ala)
c.1706A>C (p.Glu569Ala)
c.385A>C
c.1898A>C (p.Glu633Ala)
1g.43352591A>GCA339993702MPLc.1727A>G (p.Glu576Gly)
c.1706A>G (p.Glu569Gly)
c.385A>G
c.1898A>G (p.Glu633Gly)
1g.43352591A>TCA339993700MPLc.1727A>T (p.Glu576Val)
c.1706A>T (p.Glu569Val)
c.385A>T
c.1898A>T (p.Glu633Val)
1g.43352592G>ACA417428197MPLc.1728G>A (p.Glu576=)
c.1707G>A (p.Glu569=)
c.386G>A
c.1899G>A (p.Glu633=)
 ClinVar
1g.43352592G>CCA339993729MPLc.1728G>C (p.Glu576Asp)
c.1707G>C (p.Glu569Asp)
c.386G>C
c.1899G>C (p.Glu633Asp)
 dbSNP
1g.43352592G>TCA339993730MPLc.1728G>T (p.Glu576Asp)
c.1707G>T (p.Glu569Asp)
c.386G>T
c.1899G>T (p.Glu633Asp)
1g.43352593A=CA1165581366MPLc.1729A= (p.Arg577=)
c.1708A= (p.Arg570=)
c.387A=
c.1900A= (p.Arg634=)
1g.43352593A>CCA21616449MPLc.1729A>C (p.Arg577=)
c.1708A>C (p.Arg570=)
c.387A>C
c.1900A>C (p.Arg634=)
 dbSNP
1g.43352593A>GCA339993733MPLc.1729A>G (p.Arg577Gly)
c.1708A>G (p.Arg570Gly)
c.387A>G
c.1900A>G (p.Arg634Gly)
1g.43352593A>TCA339993744MPLc.1729A>T (p.Arg577Trp)
c.1708A>T (p.Arg570Trp)
c.387A>T
c.1900A>T (p.Arg634Trp)
1g.43352594G>ACA339993750MPLc.1730G>A (p.Arg577Lys)
c.1709G>A (p.Arg570Lys)
c.388G>A
c.1901G>A (p.Arg634Lys)
1g.43352594G>CCA339993752MPLc.1730G>C (p.Arg577Thr)
c.1709G>C (p.Arg570Thr)
c.388G>C
c.1901G>C (p.Arg634Thr)
 dbSNP
1g.43352594G=CA1165581367MPLc.1730G= (p.Arg577=)
c.1709G= (p.Arg570=)
c.388G=
c.1901G= (p.Arg634=)
1g.43352594G>TCA339993763MPLc.1730G>T (p.Arg577Met)
c.1709G>T (p.Arg570Met)
c.388G>T
c.1901G>T (p.Arg634Met)
1g.43352595G>ACA417428222MPLc.1731G>A (p.Arg577=)
c.1710G>A (p.Arg570=)
c.389G>A
c.1902G>A (p.Arg634=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.43352595G>CCA339993764MPLc.1731G>C (p.Arg577Ser)
c.1710G>C (p.Arg570Ser)
c.389G>C
c.1902G>C (p.Arg634Ser)
1g.43352595G=CA1165581368MPLc.1731G= (p.Arg577=)
c.1710G= (p.Arg570=)
c.389G=
c.1902G= (p.Arg634=)
1g.43352595G>TCA339993765MPLc.1731G>T (p.Arg577Ser)
c.1710G>T (p.Arg570Ser)
c.389G>T
c.1902G>T (p.Arg634Ser)
1g.43352596A>CCA339993766MPLc.1732A>C (p.Thr578Pro)
c.1711A>C (p.Thr571Pro)
c.390A>C
c.1903A>C (p.Thr635Pro)
1g.43352596A>GCA339993767MPLc.1732A>G (p.Thr578Ala)
c.1711A>G (p.Thr571Ala)
c.390A>G
c.1903A>G (p.Thr635Ala)
1g.43352596A>TCA339993770MPLc.1732A>T (p.Thr578Ser)
c.1711A>T (p.Thr571Ser)
c.390A>T
c.1903A>T (p.Thr635Ser)
1g.43352597C>ACA339993780MPLc.1733C>A (p.Thr578Asn)
c.1712C>A (p.Thr571Asn)
c.391C>A
c.1904C>A (p.Thr635Asn)
1g.43352597C=CA1165581369MPLc.1733C= (p.Thr578=)
c.1712C= (p.Thr571=)
c.391C=
c.1904C= (p.Thr635=)
1g.43352597C>GCA339993778MPLc.1733C>G (p.Thr578Ser)
c.1712C>G (p.Thr571Ser)
c.391C>G
c.1904C>G (p.Thr635Ser)
 dbSNP
1g.43352597C>TCA339993774MPLc.1733C>T (p.Thr578Ile)
c.1712C>T (p.Thr571Ile)
c.391C>T
c.1904C>T (p.Thr635Ile)
 dbSNP gnomAD v3 gnomAD v4
1g.43352598T>ACA417428243MPLc.1734T>A (p.Thr578=)
c.1713T>A (p.Thr571=)
c.392T>A
c.1905T>A (p.Thr635=)
1g.43352598T>CCA417428245MPLc.1734T>C (p.Thr578=)
c.1713T>C (p.Thr571=)
c.392T>C
c.1905T>C (p.Thr635=)
1g.43352598T>GCA417428249MPLc.1734T>G (p.Thr578=)
c.1713T>G (p.Thr571=)
c.392T>G
c.1905T>G (p.Thr635=)
1g.43352599C>ACA339993783MPLc.1735C>A (p.Pro579Thr)
c.1714C>A (p.Pro572Thr)
c.393C>A
c.1906C>A (p.Pro636Thr)
1g.43352599C>GCA339993791MPLc.1735C>G (p.Pro579Ala)
c.1714C>G (p.Pro572Ala)
c.393C>G
c.1906C>G (p.Pro636Ala)
1g.43352599C>TCA339993786MPLc.1735C>T (p.Pro579Ser)
c.1714C>T (p.Pro572Ser)
c.393C>T
c.1906C>T (p.Pro636Ser)
 gnomAD v4
1g.43352600C>ACA339993796MPLc.1736C>A (p.Pro579His)
c.1715C>A (p.Pro572His)
c.394C>A
c.1907C>A (p.Pro636His)
1g.43352600C>GCA339993797MPLc.1736C>G (p.Pro579Arg)
c.1715C>G (p.Pro572Arg)
c.394C>G
c.1907C>G (p.Pro636Arg)
1g.43352600C>TCA339993799MPLc.1736C>T (p.Pro579Leu)
c.1715C>T (p.Pro572Leu)
c.394C>T
c.1907C>T (p.Pro636Leu)
1g.43352601T>ACA417428268MPLc.1737T>A (p.Pro579=)
c.1716T>A (p.Pro572=)
c.395T>A
c.1908T>A (p.Pro636=)
1g.43352601T>CCA417428269MPLc.1737T>C (p.Pro579=)
c.1716T>C (p.Pro572=)
c.395T>C
c.1908T>C (p.Pro636=)
 gnomAD v4
1g.43352601T>GCA417428270MPLc.1737T>G (p.Pro579=)
c.1716T>G (p.Pro572=)
c.395T>G
c.1908T>G (p.Pro636=)
1g.43352602T>ACA339993810MPLc.1738T>A (p.Leu580Met)
c.1717T>A (p.Leu573Met)
c.396T>A
c.1909T>A (p.Leu637Met)
 gnomAD v4
1g.43352602T>CCA417428271MPLc.1738T>C (p.Leu580=)
c.1717T>C (p.Leu573=)
c.396T>C
c.1909T>C (p.Leu637=)
1g.43352602T>GCA339993821MPLc.1738T>G (p.Leu580Val)
c.1717T>G (p.Leu573Val)
c.396T>G
c.1909T>G (p.Leu637Val)
1g.43352603T>ACA339993829MPLc.1739T>A (p.Leu580Ter)
c.1718T>A (p.Leu573Ter)
c.397T>A
c.1910T>A (p.Leu637Ter)
 gnomAD v4
1g.43352603T>CCA807014MPLc.1739T>C (p.Leu580Ser)
c.1718T>C (p.Leu573Ser)
c.397T>C
c.1910T>C (p.Leu637Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43352603T>GCA339993831MPLc.1739T>G (p.Leu580Trp)
c.1718T>G (p.Leu573Trp)
c.397T>G
c.1910T>G (p.Leu637Trp)
1g.43352603T=CA1142204155MPLc.1739T= (p.Leu580=)
c.1718T= (p.Leu573=)
c.397T=
c.1910T= (p.Leu637=)
1g.43352604G>ACA417428275MPLc.1740G>A (p.Leu580=)
c.1719G>A (p.Leu573=)
c.398G>A
c.1911G>A (p.Leu637=)
1g.43352604G>CCA339993832MPLc.1740G>C (p.Leu580Phe)
c.1719G>C (p.Leu573Phe)
c.398G>C
c.1911G>C (p.Leu637Phe)
1g.43352604G>TCA339993835MPLc.1740G>T (p.Leu580Phe)
c.1719G>T (p.Leu573Phe)
c.398G>T
c.1911G>T (p.Leu637Phe)
1g.43352605C>ACA339993841MPLc.1741C>A (p.Pro581Thr)
c.1720C>A (p.Pro574Thr)
c.399C>A
c.1912C>A (p.Pro638Thr)
1g.43352605C=CA1165581370MPLc.1741C= (p.Pro581=)
c.1720C= (p.Pro574=)
c.399C=
c.1912C= (p.Pro638=)
1g.43352605C>GCA339993846MPLc.1741C>G (p.Pro581Ala)
c.1720C>G (p.Pro574Ala)
c.399C>G
c.1912C>G (p.Pro638Ala)
1g.43352605C>TCA807015MPLc.1741C>T (p.Pro581Ser)
c.1720C>T (p.Pro574Ser)
c.399C>T
c.1912C>T (p.Pro638Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43352606C>ACA339993856MPLc.1742C>A (p.Pro581His)
c.1721C>A (p.Pro574His)
c.400C>A
c.1913C>A (p.Pro638His)
1g.43352606C>GCA339993853MPLc.1742C>G (p.Pro581Arg)
c.1721C>G (p.Pro574Arg)
c.400C>G
c.1913C>G (p.Pro638Arg)
 dbSNP
1g.43352606C>TCA339993854MPLc.1742C>T (p.Pro581Leu)
c.1721C>T (p.Pro574Leu)
c.400C>T
c.1913C>T (p.Pro638Leu)
1g.43352607C>ACA417428280MPLc.1743C>A (p.Pro581=)
c.1722C>A (p.Pro574=)
c.401C>A
c.1914C>A (p.Pro638=)
 dbSNP
1g.43352607C>GCA417428281MPLc.1743C>G (p.Pro581=)
c.1722C>G (p.Pro574=)
c.401C>G
c.1914C>G (p.Pro638=)
 ClinVar
1g.43352607C>TCA417428282MPLc.1743C>T (p.Pro581=)
c.1722C>T (p.Pro574=)
c.401C>T
c.1914C>T (p.Pro638=)
1g.43352607_43352609delinsCCTCA1165581371MPLc.1743_1745delinsCCT (p.Pro581=)
c.1722_1724delinsCCT (p.Pro574=)
c.401_403delinsCCT
c.1914_1916delinsCCT (p.Pro638=)
1g.43352608C>ACA339993859MPLc.1744C>A (p.Leu582Met)
c.1723C>A (p.Leu575Met)
c.402C>A
c.1915C>A (p.Leu639Met)
1g.43352608C>GCA339993870MPLc.1744C>G (p.Leu582Val)
c.1723C>G (p.Leu575Val)
c.402C>G
c.1915C>G (p.Leu639Val)
 ClinVar dbSNP
1g.43352608C>TCA417428284MPLc.1744C>T (p.Leu582=)
c.1723C>T (p.Leu575=)
c.402C>T
c.1915C>T (p.Leu639=)
 gnomAD v4
1g.43352608_43352609delCA807016MPLc.1744_1745del (p.Leu582ValfsTer30)
c.1723_1724del (p.Leu575ValfsTer30)
c.402_403del
c.1915_1916del (p.Leu639ValfsTer30)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.43352608_43352610delinsCTGCA1165581372MPLc.1744_1746delinsCTG (p.Leu582=)
c.1723_1725delinsCTG (p.Leu575=)
c.402_404delinsCTG
c.1915_1917delinsCTG (p.Leu639=)
1g.43352609delCA2645224621MPLc.1745del (p.Leu582ArgfsTer?)
c.1724del (p.Leu575ArgfsTer?)
c.403del
c.1916del (p.Leu639ArgfsTer?)
 ClinVar gnomAD v4
1g.43352609T>ACA339993887MPLc.1745T>A (p.Leu582Gln)
c.1724T>A (p.Leu575Gln)
c.403T>A
c.1916T>A (p.Leu639Gln)
1g.43352609T>CCA160810MPLc.1745T>C (p.Leu582Pro)
c.1724T>C (p.Leu575Pro)
c.403T>C
c.1916T>C (p.Leu639Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43352609T>GCA339993889MPLc.1745T>G (p.Leu582Arg)
c.1724T>G (p.Leu575Arg)
c.403T>G
c.1916T>G (p.Leu639Arg)
1g.43352609T=CA1148224249MPLc.1745T= (p.Leu582=)
c.1724T= (p.Leu575=)
c.403T=
c.1916T= (p.Leu639=)
1g.43352612_43352613delCA21616465MPLc.1748_1749del (p.Cys583PhefsTer29)
c.1727_1728del (p.Cys576PhefsTer29)
c.406_407del
c.1919_1920del (p.Cys640PhefsTer29)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.43352610G>ACA21616466MPLc.1746G>A (p.Leu582=)
c.1725G>A (p.Leu575=)
c.404G>A
c.1917G>A (p.Leu639=)
 dbSNP gnomAD v3 gnomAD v4
1g.43352610G>CCA417428289MPLc.1746G>C (p.Leu582=)
c.1725G>C (p.Leu575=)
c.404G>C
c.1917G>C (p.Leu639=)
1g.43352610G=CA1165581373MPLc.1746G= (p.Leu582=)
c.1725G= (p.Leu575=)
c.404G=
c.1917G= (p.Leu639=)
1g.43352610G>TCA417428291MPLc.1746G>T (p.Leu582=)
c.1725G>T (p.Leu575=)
c.404G>T
c.1917G>T (p.Leu639=)
1g.43352611T>ACA339993890MPLc.1747T>A (p.Cys583Ser)
c.1726T>A (p.Cys576Ser)
c.405T>A
c.1918T>A (p.Cys640Ser)
1g.43352611T>CCA339993893MPLc.1747T>C (p.Cys583Arg)
c.1726T>C (p.Cys576Arg)
c.405T>C
c.1918T>C (p.Cys640Arg)
1g.43352611T>GCA339993897MPLc.1747T>G (p.Cys583Gly)
c.1726T>G (p.Cys576Gly)
c.405T>G
c.1918T>G (p.Cys640Gly)
1g.43352612G>ACA339993906MPLc.1748G>A (p.Cys583Tyr)
c.1727G>A (p.Cys576Tyr)
c.406G>A
c.1919G>A (p.Cys640Tyr)
1g.43352612G>CCA339993916MPLc.1748G>C (p.Cys583Ser)
c.1727G>C (p.Cys576Ser)
c.406G>C
c.1919G>C (p.Cys640Ser)
 dbSNP
1g.43352612G=CA1165581374MPLc.1748G= (p.Cys583=)
c.1727G= (p.Cys576=)
c.406G=
c.1919G= (p.Cys640=)
1g.43352612G>TCA807017MPLc.1748G>T (p.Cys583Phe)
c.1727G>T (p.Cys576Phe)
c.406G>T
c.1919G>T (p.Cys640Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43352613T>ACA339993932MPLc.1749T>A (p.Cys583Ter)
c.1728T>A (p.Cys576Ter)
c.407T>A
c.1920T>A (p.Cys640Ter)
1g.43352613T>CCA417428296MPLc.1749T>C (p.Cys583=)
c.1728T>C (p.Cys576=)
c.407T>C
c.1920T>C (p.Cys640=)
 gnomAD v4
1g.43352613T>GCA339993936MPLc.1749T>G (p.Cys583Trp)
c.1728T>G (p.Cys576Trp)
c.407T>G
c.1920T>G (p.Cys640Trp)
1g.43352614T>ACA339993940MPLc.1750T>A (p.Ser584Thr)
c.1729T>A (p.Ser577Thr)
c.408T>A
c.1921T>A (p.Ser641Thr)
1g.43352614T>CCA339993944MPLc.1750T>C (p.Ser584Pro)
c.1729T>C (p.Ser577Pro)
c.408T>C
c.1921T>C (p.Ser641Pro)
 dbSNP
1g.43352614T>GCA339993950MPLc.1750T>G (p.Ser584Ala)
c.1729T>G (p.Ser577Ala)
c.408T>G
c.1921T>G (p.Ser641Ala)
1g.43352615C>ACA339993959MPLc.1751C>A (p.Ser584Tyr)
c.1730C>A (p.Ser577Tyr)
c.409C>A
c.1922C>A (p.Ser641Tyr)
1g.43352615C>GCA339993962MPLc.1751C>G (p.Ser584Cys)
c.1730C>G (p.Ser577Cys)
c.409C>G
c.1922C>G (p.Ser641Cys)
1g.43352615C>TCA339993967MPLc.1751C>T (p.Ser584Phe)
c.1730C>T (p.Ser577Phe)
c.409C>T
c.1922C>T (p.Ser641Phe)
 dbSNP
1g.43352616C>ACA417428298MPLc.1752C>A (p.Ser584=)
c.1731C>A (p.Ser577=)
c.410C>A
c.1923C>A (p.Ser641=)
1g.43352616C>GCA417428299MPLc.1752C>G (p.Ser584=)
c.1731C>G (p.Ser577=)
c.410C>G
c.1923C>G (p.Ser641=)
1g.43352616C>TCA417428301MPLc.1752C>T (p.Ser584=)
c.1731C>T (p.Ser577=)
c.410C>T
c.1923C>T (p.Ser641=)
 dbSNP
1g.43352617T>ACA339993979MPLc.1753T>A (p.Ser585Thr)
c.1732T>A (p.Ser578Thr)
c.411T>A
c.1924T>A (p.Ser642Thr)
1g.43352617T>CCA339993977MPLc.1753T>C (p.Ser585Pro)
c.1732T>C (p.Ser578Pro)
c.411T>C
c.1924T>C (p.Ser642Pro)
 ClinVar dbSNP gnomAD v4
1g.43352617T>GCA339993971MPLc.1753T>G (p.Ser585Ala)
c.1732T>G (p.Ser578Ala)
c.411T>G
c.1924T>G (p.Ser642Ala)
1g.43352617T=CA1165581375MPLc.1753T= (p.Ser585=)
c.1732T= (p.Ser578=)
c.411T=
c.1924T= (p.Ser642=)
1g.43352618C>ACA339993993MPLc.1754C>A (p.Ser585Tyr)
c.1733C>A (p.Ser578Tyr)
c.412C>A
c.1925C>A (p.Ser642Tyr)
1g.43352618C=CA1165581376MPLc.1754C= (p.Ser585=)
c.1733C= (p.Ser578=)
c.412C=
c.1925C= (p.Ser642=)
1g.43352618C>GCA339994005MPLc.1754C>G (p.Ser585Cys)
c.1733C>G (p.Ser578Cys)
c.412C>G
c.1925C>G (p.Ser642Cys)
1g.43352618C>TCA339994013MPLc.1754C>T (p.Ser585Phe)
c.1733C>T (p.Ser578Phe)
c.412C>T
c.1925C>T (p.Ser642Phe)
 dbSNP gnomAD v3 gnomAD v4
1g.43352619C>ACA417428303MPLc.1755C>A (p.Ser585=)
c.1734C>A (p.Ser578=)
c.413C>A
c.1926C>A (p.Ser642=)
1g.43352619C>GCA417428304MPLc.1755C>G (p.Ser585=)
c.1734C>G (p.Ser578=)
c.413C>G
c.1926C>G (p.Ser642=)
1g.43352619C>TCA417428305MPLc.1755C>T (p.Ser585=)
c.1734C>T (p.Ser578=)
c.413C>T
c.1926C>T (p.Ser642=)
1g.43352620C>ACA339994016MPLc.1756C>A (p.Gln586Lys)
c.1735C>A (p.Gln579Lys)
c.414C>A
c.1927C>A (p.Gln643Lys)
 gnomAD v4
1g.43352620C>GCA339994018MPLc.1756C>G (p.Gln586Glu)
c.1735C>G (p.Gln579Glu)
c.414C>G
c.1927C>G (p.Gln643Glu)
1g.43352620C>TCA339994021MPLc.1756C>T (p.Gln586Ter)
c.1735C>T (p.Gln579Ter)
c.414C>T
c.1927C>T (p.Gln643Ter)
1g.43352621A>CCA339994042MPLc.1757A>C (p.Gln586Pro)
c.1736A>C (p.Gln579Pro)
c.415A>C
c.1928A>C (p.Gln643Pro)
1g.43352621A>GCA339994044MPLc.1757A>G (p.Gln586Arg)
c.1736A>G (p.Gln579Arg)
c.415A>G
c.1928A>G (p.Gln643Arg)
1g.43352621A>TCA339994043MPLc.1757A>T (p.Gln586Leu)
c.1736A>T (p.Gln579Leu)
c.415A>T
c.1928A>T (p.Gln643Leu)
1g.43352622G>ACA417428307MPLc.1758G>A (p.Gln586=)
c.1737G>A (p.Gln579=)
c.416G>A
c.1929G>A (p.Gln643=)
 COSMIC
1g.43352622G>CCA339994052MPLc.1758G>C (p.Gln586His)
c.1737G>C (p.Gln579His)
c.416G>C
c.1929G>C (p.Gln643His)
1g.43352622G>TCA339994055MPLc.1758G>T (p.Gln586His)
c.1737G>T (p.Gln579His)
c.416G>T
c.1929G>T (p.Gln643His)
1g.43352623G>ACA339994060MPLc.1759G>A (p.Ala587Thr)
c.1738G>A (p.Ala580Thr)
c.417G>A
c.1930G>A (p.Ala644Thr)
 dbSNP COSMIC
1g.43352623G>CCA339994062MPLc.1759G>C (p.Ala587Pro)
c.1738G>C (p.Ala580Pro)
c.417G>C
c.1930G>C (p.Ala644Pro)
1g.43352623G=CA1165581377MPLc.1759G= (p.Ala587=)
c.1738G= (p.Ala580=)
c.417G=
c.1930G= (p.Ala644=)
1g.43352623G>TCA339994064MPLc.1759G>T (p.Ala587Ser)
c.1738G>T (p.Ala580Ser)
c.417G>T
c.1930G>T (p.Ala644Ser)
1g.43352624C>ACA339994070MPLc.1760C>A (p.Ala587Asp)
c.1739C>A (p.Ala580Asp)
c.418C>A
c.1931C>A (p.Ala644Asp)
1g.43352624C=CA1165581378MPLc.1760C= (p.Ala587=)
c.1739C= (p.Ala580=)
c.418C=
c.1931C= (p.Ala644=)
1g.43352624C>GCA339994073MPLc.1760C>G (p.Ala587Gly)
c.1739C>G (p.Ala580Gly)
c.418C>G
c.1931C>G (p.Ala644Gly)
1g.43352624C>TCA807018MPLc.1760C>T (p.Ala587Val)
c.1739C>T (p.Ala580Val)
c.418C>T
c.1931C>T (p.Ala644Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43352625C>ACA417428310MPLc.1761C>A (p.Ala587=)
c.1740C>A (p.Ala580=)
c.419C>A
c.1932C>A (p.Ala644=)
 gnomAD v4
1g.43352625C=CA1165581379MPLc.1761C= (p.Ala587=)
c.1740C= (p.Ala580=)
c.419C=
c.1932C= (p.Ala644=)
1g.43352625C>GCA417428311MPLc.1761C>G (p.Ala587=)
c.1740C>G (p.Ala580=)
c.419C>G
c.1932C>G (p.Ala644=)
 dbSNP
1g.43352625C>TCA417428312MPLc.1761C>T (p.Ala587=)
c.1740C>T (p.Ala580=)
c.419C>T
c.1932C>T (p.Ala644=)
 ClinVar dbSNP gnomAD v4
1g.43352626C>ACA339994083MPLc.1762C>A (p.Gln588Lys)
c.1741C>A (p.Gln581Lys)
c.420C>A
c.1933C>A (p.Gln645Lys)
1g.43352626C>GCA339994088MPLc.1762C>G (p.Gln588Glu)
c.1741C>G (p.Gln581Glu)
c.420C>G
c.1933C>G (p.Gln645Glu)
1g.43352626C>TCA339994091MPLc.1762C>T (p.Gln588Ter)
c.1741C>T (p.Gln581Ter)
c.420C>T
c.1933C>T (p.Gln645Ter)
1g.43352627A>CCA339994095MPLc.1763A>C (p.Gln588Pro)
c.1742A>C (p.Gln581Pro)
c.421A>C
c.1934A>C (p.Gln645Pro)
1g.43352627A>GCA339994099MPLc.1763A>G (p.Gln588Arg)
c.1742A>G (p.Gln581Arg)
c.421A>G
c.1934A>G (p.Gln645Arg)
1g.43352627A>TCA339994097MPLc.1763A>T (p.Gln588Leu)
c.1742A>T (p.Gln581Leu)
c.421A>T
c.1934A>T (p.Gln645Leu)
1g.43352628G>ACA807019MPLc.1764G>A (p.Gln588=)
c.1743G>A (p.Gln581=)
c.422G>A
c.1935G>A (p.Gln645=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43352628G>CCA339994107MPLc.1764G>C (p.Gln588His)
c.1743G>C (p.Gln581His)
c.422G>C
c.1935G>C (p.Gln645His)
1g.43352628G=CA1165581380MPLc.1764G= (p.Gln588=)
c.1743G= (p.Gln581=)
c.422G=
c.1935G= (p.Gln645=)
1g.43352628G>TCA339994104MPLc.1764G>T (p.Gln588His)
c.1743G>T (p.Gln581His)
c.422G>T
c.1935G>T (p.Gln645His)
1g.43352629delCA2574340877MPLc.1765del (p.Met589TrpfsTer?)
c.1744del (p.Met582TrpfsTer?)
c.423del
c.1936del (p.Met646TrpfsTer?)
1g.43352629A>CCA339994116MPLc.1765A>C (p.Met589Leu)
c.1744A>C (p.Met582Leu)
c.423A>C
c.1936A>C (p.Met646Leu)
1g.43352629A>GCA339994119MPLc.1765A>G (p.Met589Val)
c.1744A>G (p.Met582Val)
c.423A>G
c.1936A>G (p.Met646Val)
1g.43352629A>TCA339994125MPLc.1765A>T (p.Met589Leu)
c.1744A>T (p.Met582Leu)
c.423A>T
c.1936A>T (p.Met646Leu)
1g.43352630T>ACA339994131MPLc.1766T>A (p.Met589Lys)
c.1745T>A (p.Met582Lys)
c.424T>A
c.1937T>A (p.Met646Lys)
1g.43352630T>CCA807020MPLc.1766T>C (p.Met589Thr)
c.1745T>C (p.Met582Thr)
c.424T>C
c.1937T>C (p.Met646Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43352630T>GCA339994141MPLc.1766T>G (p.Met589Arg)
c.1745T>G (p.Met582Arg)
c.424T>G
c.1937T>G (p.Met646Arg)
1g.43352630T=CA1165581381MPLc.1766T= (p.Met589=)
c.1745T= (p.Met582=)
c.424T=
c.1937T= (p.Met646=)
1g.43352631G>ACA339994148MPLc.1767G>A (p.Met589Ile)
c.1746G>A (p.Met582Ile)
c.425G>A
c.1938G>A (p.Met646Ile)
 dbSNP gnomAD v3 gnomAD v4
1g.43352631G>CCA339994150MPLc.1767G>C (p.Met589Ile)
c.1746G>C (p.Met582Ile)
c.425G>C
c.1938G>C (p.Met646Ile)
1g.43352631G=CA1165581382MPLc.1767G= (p.Met589=)
c.1746G= (p.Met582=)
c.425G=
c.1938G= (p.Met646=)
1g.43352631G>TCA339994155MPLc.1767G>T (p.Met589Ile)
c.1746G>T (p.Met582Ile)
c.425G>T
c.1938G>T (p.Met646Ile)
1g.43352632G>ACA339994157MPLc.1768G>A (p.Asp590Asn)
c.1747G>A (p.Asp583Asn)
c.426G>A
c.1939G>A (p.Asp647Asn)
1g.43352632G>CCA339994158MPLc.1768G>C (p.Asp590His)
c.1747G>C (p.Asp583His)
c.426G>C
c.1939G>C (p.Asp647His)
 dbSNP
1g.43352632G>TCA339994159MPLc.1768G>T (p.Asp590Tyr)
c.1747G>T (p.Asp583Tyr)
c.426G>T
c.1939G>T (p.Asp647Tyr)
1g.43352633A>CCA339994170MPLc.1769A>C (p.Asp590Ala)
c.1748A>C (p.Asp583Ala)
c.427A>C
c.1940A>C (p.Asp647Ala)
1g.43352633A>GCA339994162MPLc.1769A>G (p.Asp590Gly)
c.1748A>G (p.Asp583Gly)
c.427A>G
c.1940A>G (p.Asp647Gly)
 gnomAD v4
1g.43352633A>TCA339994167MPLc.1769A>T (p.Asp590Val)
c.1748A>T (p.Asp583Val)
c.427A>T
c.1940A>T (p.Asp647Val)
1g.43352633_43352644delCA2574340878MPLc.1769_1780del (p.Asp590_Leu594delinsVal)
c.1748_1759del (p.Asp583_Leu587delinsVal)
c.427_438del
c.1940_1951del (p.Asp647_Leu651delinsVal)
1g.43352634C>ACA339994175MPLc.1770C>A (p.Asp590Glu)
c.1749C>A (p.Asp583Glu)
c.428C>A
c.1941C>A (p.Asp647Glu)
1g.43352634C>GCA339994178MPLc.1770C>G (p.Asp590Glu)
c.1749C>G (p.Asp583Glu)
c.428C>G
c.1941C>G (p.Asp647Glu)
1g.43352634C>TCA417428324MPLc.1770C>T (p.Asp590=)
c.1749C>T (p.Asp583=)
c.428C>T
c.1941C>T (p.Asp647=)
 dbSNP
1g.43352634_43352642delCA2574340879MPLc.1770_1778del (p.Asp590_Arg593delinsGlu)
c.1749_1757del (p.Asp583_Arg586delinsGlu)
c.428_436del
c.1941_1949del (p.Asp647_Arg650delinsGlu)
1g.43352635T>ACA339994189MPLc.1771T>A (p.Tyr591Asn)
c.1750T>A (p.Tyr584Asn)
c.429T>A
c.1942T>A (p.Tyr648Asn)
 gnomAD v4
1g.43352635T>CCA807021MPLc.1771T>C (p.Tyr591His)
c.1750T>C (p.Tyr584His)
c.429T>C
c.1942T>C (p.Tyr648His)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43352635T>GCA21616470MPLc.1771T>G (p.Tyr591Asp)
c.1750T>G (p.Tyr584Asp)
c.429T>G
c.1942T>G (p.Tyr648Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.43352635T=CA1165581383MPLc.1771T= (p.Tyr591=)
c.1750T= (p.Tyr584=)
c.429T=
c.1942T= (p.Tyr648=)
1g.43352636A>CCA339994203MPLc.1772A>C (p.Tyr591Ser)
c.1751A>C (p.Tyr584Ser)
c.430A>C
c.1943A>C (p.Tyr648Ser)
 gnomAD v4
1g.43352636A>GCA339994205MPLc.1772A>G (p.Tyr591Cys)
c.1751A>G (p.Tyr584Cys)
c.430A>G
c.1943A>G (p.Tyr648Cys)
 gnomAD v4
1g.43352636A>TCA339994212MPLc.1772A>T (p.Tyr591Phe)
c.1751A>T (p.Tyr584Phe)
c.430A>T
c.1943A>T (p.Tyr648Phe)
1g.43352637C>ACA339994215MPLc.1773C>A (p.Tyr591Ter)
c.1752C>A (p.Tyr584Ter)
c.431C>A
c.1944C>A (p.Tyr648Ter)
1g.43352637C=CA1165581384MPLc.1773C= (p.Tyr591=)
c.1752C= (p.Tyr584=)
c.431C=
c.1944C= (p.Tyr648=)
1g.43352637C>GCA339994218MPLc.1773C>G (p.Tyr591Ter)
c.1752C>G (p.Tyr584Ter)
c.431C>G
c.1944C>G (p.Tyr648Ter)
1g.43352637C>TCA807022MPLc.1773C>T (p.Tyr591=)
c.1752C>T (p.Tyr584=)
c.431C>T
c.1944C>T (p.Tyr648=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.43352638C>ACA417428327MPLc.1774C>A (p.Arg592=)
c.1753C>A (p.Arg585=)
c.432C>A
c.1945C>A (p.Arg649=)
1g.43352638C=CA1165581385MPLc.1774C= (p.Arg592=)
c.1753C= (p.Arg585=)
c.432C=
c.1945C= (p.Arg649=)
1g.43352638C>GCA339994226MPLc.1774C>G (p.Arg592Gly)
c.1753C>G (p.Arg585Gly)
c.432C>G
c.1945C>G (p.Arg649Gly)
1g.43352638C>TCA807023MPLc.1774C>T (p.Arg592Ter)
c.1753C>T (p.Arg585Ter)
c.432C>T
c.1945C>T (p.Arg649Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.43352638_43352643delCA2574340882MPLc.1774_1779del (p.Arg592_Arg593del)
c.1753_1758del (p.Arg585_Arg586del)
c.432_437del
c.1945_1950del (p.Arg649_Arg650del)
1g.43352639G>ACA21616473MPLc.1775G>A (p.Arg592Gln)
c.1754G>A (p.Arg585Gln)
c.433G>A
c.1946G>A (p.Arg649Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.43352639G>CCA339994232MPLc.1775G>C (p.Arg592Pro)
c.1754G>C (p.Arg585Pro)
c.433G>C
c.1946G>C (p.Arg649Pro)
1g.43352639G=CA1143421482MPLc.1775G= (p.Arg592=)
c.1754G= (p.Arg585=)
c.433G=
c.1946G= (p.Arg649=)
1g.43352639G>TCA339994234MPLc.1775G>T (p.Arg592Leu)
c.1754G>T (p.Arg585Leu)
c.433G>T
c.1946G>T (p.Arg649Leu)
 dbSNP
1g.43352640A>CCA417428330MPLc.1776A>C (p.Arg592=)
c.1755A>C (p.Arg585=)
c.434A>C
c.1947A>C (p.Arg649=)
1g.43352640A>GCA417428331MPLc.1776A>G (p.Arg592=)
c.1755A>G (p.Arg585=)
c.434A>G
c.1947A>G (p.Arg649=)
1g.43352640A>TCA417428332MPLc.1776A>T (p.Arg592=)
c.1755A>T (p.Arg585=)
c.434A>T
c.1947A>T (p.Arg649=)
1g.43352641A>CCA417428333MPLc.1777A>C (p.Arg593=)
c.1756A>C (p.Arg586=)
c.435A>C
c.1948A>C (p.Arg650=)
1g.43352641A>GCA339994239MPLc.1777A>G (p.Arg593Gly)
c.1756A>G (p.Arg586Gly)
c.435A>G
c.1948A>G (p.Arg650Gly)
1g.43352641A>TCA339994242MPLc.1777A>T (p.Arg593Ter)
c.1756A>T (p.Arg586Ter)
c.435A>T
c.1948A>T (p.Arg650Ter)
1g.43352642G>ACA807025MPLc.1778G>A (p.Arg593Lys)
c.1757G>A (p.Arg586Lys)
c.436G>A
c.1949G>A (p.Arg650Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.43352642G>CCA339994251MPLc.1778G>C (p.Arg593Thr)
c.1757G>C (p.Arg586Thr)
c.436G>C
c.1949G>C (p.Arg650Thr)
 gnomAD v4
1g.43352642G=CA1165581386MPLc.1778G= (p.Arg593=)
c.1757G= (p.Arg586=)
c.436G=
c.1949G= (p.Arg650=)
1g.43352642G>TCA807024MPLc.1778G>T (p.Arg593Ile)
c.1757G>T (p.Arg586Ile)
c.436G>T
c.1949G>T (p.Arg650Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.43352643A>CCA339994259MPLc.1779A>C (p.Arg593Ser)
c.1758A>C (p.Arg586Ser)
c.437A>C
c.1950A>C (p.Arg650Ser)
1g.43352643A>GCA417428339MPLc.1779A>G (p.Arg593=)
c.1758A>G (p.Arg586=)
c.437A>G
c.1950A>G (p.Arg650=)
1g.43352643A>TCA339994266MPLc.1779A>T (p.Arg593Ser)
c.1758A>T (p.Arg586Ser)
c.437A>T
c.1950A>T (p.Arg650Ser)
1g.43352644T>ACA339994270MPLc.1780T>A (p.Leu594Met)
c.1759T>A (p.Leu587Met)
c.438T>A
c.1951T>A (p.Leu651Met)
 dbSNP gnomAD v4
1g.43352644T>CCA417428341MPLc.1780T>C (p.Leu594=)
c.1759T>C (p.Leu587=)
c.438T>C
c.1951T>C (p.Leu651=)
 gnomAD v4
1g.43352644T>GCA339994273MPLc.1780T>G (p.Leu594Val)
c.1759T>G (p.Leu587Val)
c.438T>G
c.1951T>G (p.Leu651Val)
1g.43352645T>ACA339994287MPLc.1781T>A (p.Leu594Ter)
c.1760T>A (p.Leu587Ter)
c.439T>A
c.1952T>A (p.Leu651Ter)
1g.43352645T>CCA339994283MPLc.1781T>C (p.Leu594Ser)
c.1760T>C (p.Leu587Ser)
c.439T>C
c.1952T>C (p.Leu651Ser)
1g.43352645T>GCA339994279MPLc.1781T>G (p.Leu594Trp)
c.1760T>G (p.Leu587Trp)
c.439T>G
c.1952T>G (p.Leu651Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.43352645T=CA1165581387MPLc.1781T= (p.Leu594=)
c.1760T= (p.Leu587=)
c.439T=
c.1952T= (p.Leu651=)
1g.43352646G>ACA417428343MPLc.1782G>A (p.Leu594=)
c.1761G>A (p.Leu587=)
c.440G>A
c.1953G>A (p.Leu651=)
 ClinVar dbSNP gnomAD v4
1g.43352646G>CCA339994290MPLc.1782G>C (p.Leu594Phe)
c.1761G>C (p.Leu587Phe)
c.440G>C
c.1953G>C (p.Leu651Phe)
1g.43352646G>TCA339994295MPLc.1782G>T (p.Leu594Phe)
c.1761G>T (p.Leu587Phe)
c.440G>T
c.1953G>T (p.Leu651Phe)
1g.43352647C>ACA339994305MPLc.1783C>A (p.Gln595Lys)
c.1762C>A (p.Gln588Lys)
c.441C>A
c.1954C>A (p.Gln652Lys)
1g.43352647C>GCA339994308MPLc.1783C>G (p.Gln595Glu)
c.1762C>G (p.Gln588Glu)
c.441C>G
c.1954C>G (p.Gln652Glu)
1g.43352647C>TCA339994311MPLc.1783C>T (p.Gln595Ter)
c.1762C>T (p.Gln588Ter)
c.441C>T
c.1954C>T (p.Gln652Ter)
 dbSNP
1g.43352648A=CA1165581388MPLc.1784A= (p.Gln595=)
c.1763A= (p.Gln588=)
c.442A=
c.1955A= (p.Gln652=)
1g.43352648A>CCA339994314MPLc.1784A>C (p.Gln595Pro)
c.1763A>C (p.Gln588Pro)
c.442A>C
c.1955A>C (p.Gln652Pro)
1g.43352648A>GCA21616477MPLc.1784A>G (p.Gln595Arg)
c.1763A>G (p.Gln588Arg)
c.442A>G
c.1955A>G (p.Gln652Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.43352648A>TCA339994318MPLc.1784A>T (p.Gln595Leu)
c.1763A>T (p.Gln588Leu)
c.442A>T
c.1955A>T (p.Gln652Leu)
 gnomAD v4
1g.43352649G>ACA417428347MPLc.1785G>A (p.Gln595=)
c.1764G>A (p.Gln588=)
c.443G>A
c.1956G>A (p.Gln652=)
 dbSNP gnomAD v2 gnomAD v4
1g.43352649G>CCA339994323MPLc.1785G>C (p.Gln595His)
c.1764G>C (p.Gln588His)
c.443G>C
c.1956G>C (p.Gln652His)
 dbSNP
1g.43352649G=CA1165581389MPLc.1785G= (p.Gln595=)
c.1764G= (p.Gln588=)
c.443G=
c.1956G= (p.Gln652=)
1g.43352649G>TCA339994325MPLc.1785G>T (p.Gln595His)
c.1764G>T (p.Gln588His)
c.443G>T
c.1956G>T (p.Gln652His)
1g.43352650C>ACA339994328MPLc.1786C>A (p.Pro596Thr)
c.1765C>A (p.Pro589Thr)
c.444C>A
c.1957C>A (p.Pro653Thr)
1g.43352650C=CA1165581390MPLc.1786C= (p.Pro596=)
c.1765C= (p.Pro589=)
c.444C=
c.1957C= (p.Pro653=)
1g.43352650C>GCA339994330MPLc.1786C>G (p.Pro596Ala)
c.1765C>G (p.Pro589Ala)
c.444C>G
c.1957C>G (p.Pro653Ala)
 dbSNP
1g.43352650C>TCA339994333MPLc.1786C>T (p.Pro596Ser)
c.1765C>T (p.Pro589Ser)
c.444C>T
c.1957C>T (p.Pro653Ser)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.43352651C>ACA339994340MPLc.1787C>A (p.Pro596His)
c.1766C>A (p.Pro589His)
c.445C>A
c.1958C>A (p.Pro653His)
1g.43352651C>GCA339994343MPLc.1787C>G (p.Pro596Arg)
c.1766C>G (p.Pro589Arg)
c.445C>G
c.1958C>G (p.Pro653Arg)
1g.43352651C>TCA339994337MPLc.1787C>T (p.Pro596Leu)
c.1766C>T (p.Pro589Leu)
c.445C>T
c.1958C>T (p.Pro653Leu)
1g.43352652T>ACA417428353MPLc.1788T>A (p.Pro596=)
c.1767T>A (p.Pro589=)
c.446T>A
c.1959T>A (p.Pro653=)
1g.43352652T>CCA417428354MPLc.1788T>C (p.Pro596=)
c.1767T>C (p.Pro589=)
c.446T>C
c.1959T>C (p.Pro653=)
1g.43352652T>GCA417428355MPLc.1788T>G (p.Pro596=)
c.1767T>G (p.Pro589=)
c.446T>G
c.1959T>G (p.Pro653=)
 gnomAD v4
1g.43352653T>ACA339994353MPLc.1789T>A (p.Ser597Thr)
c.1768T>A (p.Ser590Thr)
c.447T>A
c.1960T>A (p.Ser654Thr)
1g.43352653T>CCA339994347MPLc.1789T>C (p.Ser597Pro)
c.1768T>C (p.Ser590Pro)
c.447T>C
c.1960T>C (p.Ser654Pro)
1g.43352653T>GCA339994350MPLc.1789T>G (p.Ser597Ala)
c.1768T>G (p.Ser590Ala)
c.447T>G
c.1960T>G (p.Ser654Ala)
1g.43352654C>ACA339994356MPLc.1790C>A (p.Ser597Tyr)
c.1769C>A (p.Ser590Tyr)
c.448C>A
c.1961C>A (p.Ser654Tyr)
1g.43352654C=CA1165581391MPLc.1790C= (p.Ser597=)
c.1769C= (p.Ser590=)
c.448C=
c.1961C= (p.Ser654=)
1g.43352654C>GCA339994359MPLc.1790C>G (p.Ser597Cys)
c.1769C>G (p.Ser590Cys)
c.448C>G
c.1961C>G (p.Ser654Cys)
1g.43352654C>TCA339994363MPLc.1790C>T (p.Ser597Phe)
c.1769C>T (p.Ser590Phe)
c.448C>T
c.1961C>T (p.Ser654Phe)
 dbSNP
1g.43352655T>ACA417428357MPLc.1791T>A (p.Ser597=)
c.1770T>A (p.Ser590=)
c.449T>A
c.1962T>A (p.Ser654=)
1g.43352655T>CCA417428358MPLc.1791T>C (p.Ser597=)
c.1770T>C (p.Ser590=)
c.449T>C
c.1962T>C (p.Ser654=)
1g.43352655T>GCA417428359MPLc.1791T>G (p.Ser597=)
c.1770T>G (p.Ser590=)
c.449T>G
c.1962T>G (p.Ser654=)
1g.43352656T>ACA339994368MPLc.1792T>A (p.Cys598Ser)
c.1771T>A (p.Cys591Ser)
c.450T>A
c.1963T>A (p.Cys655Ser)
1g.43352656T>CCA339994371MPLc.1792T>C (p.Cys598Arg)
c.1771T>C (p.Cys591Arg)
c.450T>C
c.1963T>C (p.Cys655Arg)
1g.43352656T>GCA339994373MPLc.1792T>G (p.Cys598Gly)
c.1771T>G (p.Cys591Gly)
c.450T>G
c.1963T>G (p.Cys655Gly)
1g.43352657G>ACA339994375MPLc.1793G>A (p.Cys598Tyr)
c.1772G>A (p.Cys591Tyr)
c.451G>A
c.1964G>A (p.Cys655Tyr)
 gnomAD v4
1g.43352657G>CCA339994391MPLc.1793G>C (p.Cys598Ser)
c.1772G>C (p.Cys591Ser)
c.451G>C
c.1964G>C (p.Cys655Ser)
1g.43352657G>TCA339994387MPLc.1793G>T (p.Cys598Phe)
c.1772G>T (p.Cys591Phe)
c.451G>T
c.1964G>T (p.Cys655Phe)
1g.43352658C>ACA339994396MPLc.1794C>A (p.Cys598Ter)
c.1773C>A (p.Cys591Ter)
c.452C>A
c.1965C>A (p.Cys655Ter)
 dbSNP
1g.43352658C=CA1141930085MPLc.1794C= (p.Cys598=)
c.1773C= (p.Cys591=)
c.452C=
c.1965C= (p.Cys655=)
1g.43352658C>GCA339994400MPLc.1794C>G (p.Cys598Trp)
c.1773C>G (p.Cys591Trp)
c.452C>G
c.1965C>G (p.Cys655Trp)
1g.43352658C>TCA807026MPLc.1794C>T (p.Cys598=)
c.1773C>T (p.Cys591=)
c.452C>T
c.1965C>T (p.Cys655=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43352659C>ACA339994401MPLc.1795C>A (p.Leu599Met)
c.1774C>A (p.Leu592Met)
c.453C>A
c.1966C>A (p.Leu656Met)
1g.43352659C=CA1165581392MPLc.1795C= (p.Leu599=)
c.1774C= (p.Leu592=)
c.453C=
c.1966C= (p.Leu656=)
1g.43352659C>GCA339994402MPLc.1795C>G (p.Leu599Val)
c.1774C>G (p.Leu592Val)
c.453C>G
c.1966C>G (p.Leu656Val)
 dbSNP
1g.43352659C>TCA417428362MPLc.1795C>T (p.Leu599=)
c.1774C>T (p.Leu592=)
c.453C>T
c.1966C>T (p.Leu656=)
 ClinVar dbSNP gnomAD v4
1g.43352660T>ACA339994404MPLc.1796T>A (p.Leu599Gln)
c.1775T>A (p.Leu592Gln)
c.454T>A
c.1967T>A (p.Leu656Gln)
1g.43352660T>CCA339994411MPLc.1796T>C (p.Leu599Pro)
c.1775T>C (p.Leu592Pro)
c.454T>C
c.1967T>C (p.Leu656Pro)
1g.43352660T>GCA339994407MPLc.1796T>G (p.Leu599Arg)
c.1775T>G (p.Leu592Arg)
c.454T>G
c.1967T>G (p.Leu656Arg)
1g.43352661G>ACA417428364MPLc.1797G>A (p.Leu599=)
c.1776G>A (p.Leu592=)
c.455G>A
c.1968G>A (p.Leu656=)
1g.43352661G>CCA417428365MPLc.1797G>C (p.Leu599=)
c.1776G>C (p.Leu592=)
c.455G>C
c.1968G>C (p.Leu656=)
1g.43352661G>TCA417428366MPLc.1797G>T (p.Leu599=)
c.1776G>T (p.Leu592=)
c.455G>T
c.1968G>T (p.Leu656=)
1g.43352664delCA2695811248MPLc.1800del (p.Thr601ProfsTer29)
c.1779del (p.Thr594ProfsTer29)
c.458del
c.1971del (p.Thr658ProfsTer29)
 dbSNP
1g.43352662G>ACA339994413MPLc.1798G>A (p.Gly600Arg)
c.1777G>A (p.Gly593Arg)
c.456G>A
c.1969G>A (p.Gly657Arg)
1g.43352662G>CCA339994415MPLc.1798G>C (p.Gly600Arg)
c.1777G>C (p.Gly593Arg)
c.456G>C
c.1969G>C (p.Gly657Arg)
1g.43352662G>TCA339994418MPLc.1798G>T (p.Gly600Trp)
c.1777G>T (p.Gly593Trp)
c.456G>T
c.1969G>T (p.Gly657Trp)
1g.43352663G>ACA339994420MPLc.1799G>A (p.Gly600Glu)
c.1778G>A (p.Gly593Glu)
c.457G>A
c.1970G>A (p.Gly657Glu)
 ClinVar dbSNP COSMIC
1g.43352663G>CCA339994423MPLc.1799G>C (p.Gly600Ala)
c.1778G>C (p.Gly593Ala)
c.457G>C
c.1970G>C (p.Gly657Ala)
1g.43352663G>TCA339994426MPLc.1799G>T (p.Gly600Val)
c.1778G>T (p.Gly593Val)
c.457G>T
c.1970G>T (p.Gly657Val)
1g.43352664G>ACA417428372MPLc.1800G>A (p.Gly600=)
c.1779G>A (p.Gly593=)
c.458G>A
c.1971G>A (p.Gly657=)
 gnomAD v4 COSMIC
1g.43352664G>CCA417428373MPLc.1800G>C (p.Gly600=)
c.1779G>C (p.Gly593=)
c.458G>C
c.1971G>C (p.Gly657=)
1g.43352664G>TCA417428374MPLc.1800G>T (p.Gly600=)
c.1779G>T (p.Gly593=)
c.458G>T
c.1971G>T (p.Gly657=)
1g.43352665A>CCA339994429MPLc.1801A>C (p.Thr601Pro)
c.1780A>C (p.Thr594Pro)
c.459A>C
c.1972A>C (p.Thr658Pro)
1g.43352665A>GCA339994432MPLc.1801A>G (p.Thr601Ala)
c.1780A>G (p.Thr594Ala)
c.459A>G
c.1972A>G (p.Thr658Ala)
 dbSNP COSMIC
1g.43352665A>TCA339994435MPLc.1801A>T (p.Thr601Ser)
c.1780A>T (p.Thr594Ser)
c.459A>T
c.1972A>T (p.Thr658Ser)
 dbSNP
1g.43352666C>ACA339994439MPLc.1802C>A (p.Thr601Asn)
c.1781C>A (p.Thr594Asn)
c.460C>A
c.1973C>A (p.Thr658Asn)
1g.43352666C>GCA339994443MPLc.1802C>G (p.Thr601Ser)
c.1781C>G (p.Thr594Ser)
c.460C>G
c.1973C>G (p.Thr658Ser)
1g.43352666C>TCA339994446MPLc.1802C>T (p.Thr601Ile)
c.1781C>T (p.Thr594Ile)
c.460C>T
c.1973C>T (p.Thr658Ile)
 dbSNP
1g.43352667C>ACA417428378MPLc.1803C>A (p.Thr601=)
c.1782C>A (p.Thr594=)
c.461C>A
c.1974C>A (p.Thr658=)
 dbSNP
1g.43352667C=CA1141764333MPLc.1803C= (p.Thr601=)
c.1782C= (p.Thr594=)
c.461C=
c.1974C= (p.Thr658=)
1g.43352667C>GCA417428379MPLc.1803C>G (p.Thr601=)
c.1782C>G (p.Thr594=)
c.461C>G
c.1974C>G (p.Thr658=)
1g.43352667C>TCA807027MPLc.1803C>T (p.Thr601=)
c.1782C>T (p.Thr594=)
c.461C>T
c.1974C>T (p.Thr658=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43352668A=CA1149120601MPLc.1804A= (p.Met602=)
c.1783A= (p.Met595=)
c.462A=
c.1975A= (p.Met659=)
1g.43352668A>CCA339994447MPLc.1804A>C (p.Met602Leu)
c.1783A>C (p.Met595Leu)
c.462A>C
c.1975A>C (p.Met659Leu)
1g.43352668A>GCA807028MPLc.1804A>G (p.Met602Val)
c.1783A>G (p.Met595Val)
c.462A>G
c.1975A>G (p.Met659Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43352668A>TCA339994448MPLc.1804A>T (p.Met602Leu)
c.1783A>T (p.Met595Leu)
c.462A>T
c.1975A>T (p.Met659Leu)
1g.43352669T>ACA339994458MPLc.1805T>A (p.Met602Lys)
c.1784T>A (p.Met595Lys)
c.463T>A
c.1976T>A (p.Met659Lys)
1g.43352669T>CCA807029MPLc.1805T>C (p.Met602Thr)
c.1784T>C (p.Met595Thr)
c.463T>C
c.1976T>C (p.Met659Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43352669T>GCA339994465MPLc.1805T>G (p.Met602Arg)
c.1784T>G (p.Met595Arg)
c.463T>G
c.1976T>G (p.Met659Arg)
1g.43352669T=CA1165581393MPLc.1805T= (p.Met602=)
c.1784T= (p.Met595=)
c.463T=
c.1976T= (p.Met659=)
1g.43352670G>ACA339994468MPLc.1806G>A (p.Met602Ile)
c.1785G>A (p.Met595Ile)
c.464G>A
c.1977G>A (p.Met659Ile)
 dbSNP gnomAD v4
1g.43352670G>CCA339994470MPLc.1806G>C (p.Met602Ile)
c.1785G>C (p.Met595Ile)
c.464G>C
c.1977G>C (p.Met659Ile)
1g.43352670G=CA1165581394MPLc.1806G= (p.Met602=)
c.1785G= (p.Met595=)
c.464G=
c.1977G= (p.Met659=)
1g.43352670G>TCA339994474MPLc.1806G>T (p.Met602Ile)
c.1785G>T (p.Met595Ile)
c.464G>T
c.1977G>T (p.Met659Ile)
 dbSNP gnomAD v3 gnomAD v4
1g.43352671C>ACA339994483MPLc.1807C>A (p.Pro603Thr)
c.1786C>A (p.Pro596Thr)
c.465C>A
c.1978C>A (p.Pro660Thr)
1g.43352671C>GCA339994485MPLc.1807C>G (p.Pro603Ala)
c.1786C>G (p.Pro596Ala)
c.465C>G
c.1978C>G (p.Pro660Ala)
1g.43352671C>TCA339994489MPLc.1807C>T (p.Pro603Ser)
c.1786C>T (p.Pro596Ser)
c.465C>T
c.1978C>T (p.Pro660Ser)
 dbSNP
1g.43352674dupCA2740090667MPLc.1810dup (p.Leu604ProfsTer9)
c.1789dup (p.Leu597ProfsTer9)
c.468dup
c.1981dup (p.Leu661ProfsTer9)
 ClinVar
1g.43352672C>ACA339994493MPLc.1808C>A (p.Pro603His)
c.1787C>A (p.Pro596His)
c.466C>A
c.1979C>A (p.Pro660His)
 dbSNP
1g.43352672C>GCA339994498MPLc.1808C>G (p.Pro603Arg)
c.1787C>G (p.Pro596Arg)
c.466C>G
c.1979C>G (p.Pro660Arg)
1g.43352672C>TCA339994502MPLc.1808C>T (p.Pro603Leu)
c.1787C>T (p.Pro596Leu)
c.466C>T
c.1979C>T (p.Pro660Leu)
1g.43352673C>ACA21616485MPLc.1809C>A (p.Pro603=)
c.1788C>A (p.Pro596=)
c.467C>A
c.1980C>A (p.Pro660=)
 dbSNP
1g.43352673C=CA1144001315MPLc.1809C= (p.Pro603=)
c.1788C= (p.Pro596=)
c.467C=
c.1980C= (p.Pro660=)
1g.43352673C>GCA417428388MPLc.1809C>G (p.Pro603=)
c.1788C>G (p.Pro596=)
c.467C>G
c.1980C>G (p.Pro660=)
 ClinVar dbSNP
1g.43352673C>TCA417428389MPLc.1809C>T (p.Pro603=)
c.1788C>T (p.Pro596=)
c.467C>T
c.1980C>T (p.Pro660=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.43352673_43352677delinsCCTGTCA1165581395MPLc.1809_1813delinsCCTGT (p.Pro603=)
c.1788_1792delinsCCTGT (p.Pro596=)
c.467_471delinsCCTGT
c.1980_1984delinsCCTGT (p.Pro660=)
1g.43352674C>ACA339994510MPLc.1810C>A (p.Leu604Met)
c.1789C>A (p.Leu597Met)
c.468C>A
c.1981C>A (p.Leu661Met)
1g.43352674C>GCA339994507MPLc.1810C>G (p.Leu604Val)
c.1789C>G (p.Leu597Val)
c.468C>G
c.1981C>G (p.Leu661Val)
1g.43352674C>TCA417428392MPLc.1810C>T (p.Leu604=)
c.1789C>T (p.Leu597=)
c.468C>T
c.1981C>T (p.Leu661=)
1g.43352674_43352675delCA2574340894MPLc.1810_1811del (p.Leu604ValfsTer8)
c.1789_1790del (p.Leu597ValfsTer8)
c.468_469del
c.1981_1982del (p.Leu661ValfsTer8)
 ClinVar gnomAD v4
1g.43352678_43352681delCA522806116MPLc.1814_1817del (p.Ser605CysfsTer24)
c.1793_1796del (p.Ser598CysfsTer24)
c.472_475del
c.1985_1988del (p.Ser662CysfsTer24)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.43352675T>ACA339994511MPLc.1811T>A (p.Leu604Gln)
c.1790T>A (p.Leu597Gln)
c.469T>A
c.1982T>A (p.Leu661Gln)
1g.43352675T>CCA339994512MPLc.1811T>C (p.Leu604Pro)
c.1790T>C (p.Leu597Pro)
c.469T>C
c.1982T>C (p.Leu661Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.43352675T>GCA339994515MPLc.1811T>G (p.Leu604Arg)
c.1790T>G (p.Leu597Arg)
c.469T>G
c.1982T>G (p.Leu661Arg)
1g.43352675T=CA1165581396MPLc.1811T= (p.Leu604=)
c.1790T= (p.Leu597=)
c.469T=
c.1982T= (p.Leu661=)
1g.43352676G>ACA417428393MPLc.1812G>A (p.Leu604=)
c.1791G>A (p.Leu597=)
c.470G>A
c.1983G>A (p.Leu661=)
 dbSNP
1g.43352676G>CCA417428395MPLc.1812G>C (p.Leu604=)
c.1791G>C (p.Leu597=)
c.470G>C
c.1983G>C (p.Leu661=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.43352676G=CA1165581397MPLc.1812G= (p.Leu604=)
c.1791G= (p.Leu597=)
c.470G=
c.1983G= (p.Leu661=)
1g.43352676G>TCA417428396MPLc.1812G>T (p.Leu604=)
c.1791G>T (p.Leu597=)
c.470G>T
c.1983G>T (p.Leu661=)

Number of alleles fetched