Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.9264160T>ACA338193517H6PDc.1667T>A (p.Val556Asp)
c.1700T>A (p.Val567Asp)
c.1694T>A (p.Val565Asp)
c.599T>A (p.Val200Asp)
1g.9264160T>CCA338193518H6PDc.1667T>C (p.Val556Ala)
c.1700T>C (p.Val567Ala)
c.1694T>C (p.Val565Ala)
c.599T>C (p.Val200Ala)
 gnomAD v4
1g.9264160T>GCA338193519H6PDc.1667T>G (p.Val556Gly)
c.1700T>G (p.Val567Gly)
c.1694T>G (p.Val565Gly)
c.599T>G (p.Val200Gly)
1g.9264161C>ACA416031349H6PDc.1668C>A (p.Val556=)
c.1701C>A (p.Val567=)
c.1695C>A (p.Val565=)
c.600C>A (p.Val200=)
1g.9264161C=CA1152693952H6PDc.1668C= (p.Val556=)
c.1701C= (p.Val567=)
c.1695C= (p.Val565=)
c.600C= (p.Val200=)
1g.9264161C>GCA416031350H6PDc.1668C>G (p.Val556=)
c.1701C>G (p.Val567=)
c.1695C>G (p.Val565=)
c.600C>G (p.Val200=)
1g.9264161C>TCA416031351H6PDc.1668C>T (p.Val556=)
c.1701C>T (p.Val567=)
c.1695C>T (p.Val565=)
c.600C>T (p.Val200=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.9264162T>ACA338193520H6PDc.1669T>A (p.Ser557Thr)
c.1702T>A (p.Ser568Thr)
c.1696T>A (p.Ser566Thr)
c.601T>A (p.Ser201Thr)
1g.9264162T>CCA338193521H6PDc.1669T>C (p.Ser557Pro)
c.1702T>C (p.Ser568Pro)
c.1696T>C (p.Ser566Pro)
c.601T>C (p.Ser201Pro)
1g.9264162T>GCA338193522H6PDc.1669T>G (p.Ser557Ala)
c.1702T>G (p.Ser568Ala)
c.1696T>G (p.Ser566Ala)
c.601T>G (p.Ser201Ala)
1g.9264163C>ACA338193523H6PDc.1670C>A (p.Ser557Tyr)
c.1703C>A (p.Ser568Tyr)
c.1697C>A (p.Ser566Tyr)
c.602C>A (p.Ser201Tyr)
1g.9264163C>GCA338193524H6PDc.1670C>G (p.Ser557Cys)
c.1703C>G (p.Ser568Cys)
c.1697C>G (p.Ser566Cys)
c.602C>G (p.Ser201Cys)
1g.9264163C>TCA338193525H6PDc.1670C>T (p.Ser557Phe)
c.1703C>T (p.Ser568Phe)
c.1697C>T (p.Ser566Phe)
c.602C>T (p.Ser201Phe)
 COSMIC
1g.9264164C>ACA416031365H6PDc.1671C>A (p.Ser557=)
c.1704C>A (p.Ser568=)
c.1698C>A (p.Ser566=)
c.603C>A (p.Ser201=)
1g.9264164C=CA1152693960H6PDc.1671C= (p.Ser557=)
c.1704C= (p.Ser568=)
c.1698C= (p.Ser566=)
c.603C= (p.Ser201=)
1g.9264164C>GCA416031369H6PDc.1671C>G (p.Ser557=)
c.1704C>G (p.Ser568=)
c.1698C>G (p.Ser566=)
c.603C>G (p.Ser201=)
1g.9264164C>TCA575375H6PDc.1671C>T (p.Ser557=)
c.1704C>T (p.Ser568=)
c.1698C>T (p.Ser566=)
c.603C>T (p.Ser201=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264165G>ACA575376H6PDc.1672G>A (p.Ala558Thr)
c.1705G>A (p.Ala569Thr)
c.1699G>A (p.Ala567Thr)
c.604G>A (p.Ala202Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264165G>CCA338193526H6PDc.1672G>C (p.Ala558Pro)
c.1705G>C (p.Ala569Pro)
c.1699G>C (p.Ala567Pro)
c.604G>C (p.Ala202Pro)
1g.9264165G=CA1146784447H6PDc.1672G= (p.Ala558=)
c.1705G= (p.Ala569=)
c.1699G= (p.Ala567=)
c.604G= (p.Ala202=)
1g.9264165G>TCA338193527H6PDc.1672G>T (p.Ala558Ser)
c.1705G>T (p.Ala569Ser)
c.1699G>T (p.Ala567Ser)
c.604G>T (p.Ala202Ser)
 gnomAD v4
1g.9264166C>ACA338193528H6PDc.1673C>A (p.Ala558Asp)
c.1706C>A (p.Ala569Asp)
c.1700C>A (p.Ala567Asp)
c.605C>A (p.Ala202Asp)
1g.9264166C>GCA338193530H6PDc.1673C>G (p.Ala558Gly)
c.1706C>G (p.Ala569Gly)
c.1700C>G (p.Ala567Gly)
c.605C>G (p.Ala202Gly)
1g.9264166C>TCA338193529H6PDc.1673C>T (p.Ala558Val)
c.1706C>T (p.Ala569Val)
c.1700C>T (p.Ala567Val)
c.605C>T (p.Ala202Val)
1g.9264167C>ACA416031385H6PDc.1674C>A (p.Ala558=)
c.1707C>A (p.Ala569=)
c.1701C>A (p.Ala567=)
c.606C>A (p.Ala202=)
1g.9264167C=CA1152693968H6PDc.1674C= (p.Ala558=)
c.1707C= (p.Ala569=)
c.1701C= (p.Ala567=)
c.606C= (p.Ala202=)
1g.9264167C>GCA416031387H6PDc.1674C>G (p.Ala558=)
c.1707C>G (p.Ala569=)
c.1701C>G (p.Ala567=)
c.606C>G (p.Ala202=)
1g.9264167C>TCA416031388H6PDc.1674C>T (p.Ala558=)
c.1707C>T (p.Ala569=)
c.1701C>T (p.Ala567=)
c.606C>T (p.Ala202=)
 dbSNP gnomAD v2 gnomAD v4
1g.9264168T>ACA338193531H6PDc.1675T>A (p.Trp559Arg)
c.1708T>A (p.Trp570Arg)
c.1702T>A (p.Trp568Arg)
c.607T>A (p.Trp203Arg)
1g.9264168T>CCA338193532H6PDc.1675T>C (p.Trp559Arg)
c.1708T>C (p.Trp570Arg)
c.1702T>C (p.Trp568Arg)
c.607T>C (p.Trp203Arg)
 dbSNP gnomAD v4
1g.9264168T>GCA338193533H6PDc.1675T>G (p.Trp559Gly)
c.1708T>G (p.Trp570Gly)
c.1702T>G (p.Trp568Gly)
c.607T>G (p.Trp203Gly)
1g.9264168T=CA1152693978H6PDc.1675T= (p.Trp559=)
c.1708T= (p.Trp570=)
c.1702T= (p.Trp568=)
c.607T= (p.Trp203=)
1g.9264169G>ACA575377H6PDc.1676G>A (p.Trp559Ter)
c.1709G>A (p.Trp570Ter)
c.1703G>A (p.Trp568Ter)
c.608G>A (p.Trp203Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264169G>CCA338193534H6PDc.1676G>C (p.Trp559Ser)
c.1709G>C (p.Trp570Ser)
c.1703G>C (p.Trp568Ser)
c.608G>C (p.Trp203Ser)
 gnomAD v4
1g.9264169G=CA1152693982H6PDc.1676G= (p.Trp559=)
c.1709G= (p.Trp570=)
c.1703G= (p.Trp568=)
c.608G= (p.Trp203=)
1g.9264169G>TCA338193535H6PDc.1676G>T (p.Trp559Leu)
c.1709G>T (p.Trp570Leu)
c.1703G>T (p.Trp568Leu)
c.608G>T (p.Trp203Leu)
 gnomAD v4
1g.9264170G>ACA338193536H6PDc.1677G>A (p.Trp559Ter)
c.1710G>A (p.Trp570Ter)
c.1704G>A (p.Trp568Ter)
c.609G>A (p.Trp203Ter)
1g.9264170G>CCA338193537H6PDc.1677G>C (p.Trp559Cys)
c.1710G>C (p.Trp570Cys)
c.1704G>C (p.Trp568Cys)
c.609G>C (p.Trp203Cys)
1g.9264170G>TCA338193538H6PDc.1677G>T (p.Trp559Cys)
c.1710G>T (p.Trp570Cys)
c.1704G>T (p.Trp568Cys)
c.609G>T (p.Trp203Cys)
1g.9264171T>ACA338193541H6PDc.1678T>A (p.Ser560Thr)
c.1711T>A (p.Ser571Thr)
c.1705T>A (p.Ser569Thr)
c.610T>A (p.Ser204Thr)
1g.9264171T>CCA338193540H6PDc.1678T>C (p.Ser560Pro)
c.1711T>C (p.Ser571Pro)
c.1705T>C (p.Ser569Pro)
c.610T>C (p.Ser204Pro)
 gnomAD v3 gnomAD v4
1g.9264171T>GCA338193539H6PDc.1678T>G (p.Ser560Ala)
c.1711T>G (p.Ser571Ala)
c.1705T>G (p.Ser569Ala)
c.610T>G (p.Ser204Ala)
1g.9264172C>ACA338193542H6PDc.1679C>A (p.Ser560Tyr)
c.1712C>A (p.Ser571Tyr)
c.1706C>A (p.Ser569Tyr)
c.611C>A (p.Ser204Tyr)
1g.9264172C=CA1152693991H6PDc.1679C= (p.Ser560=)
c.1712C= (p.Ser571=)
c.1706C= (p.Ser569=)
c.611C= (p.Ser204=)
1g.9264172C>GCA338193543H6PDc.1679C>G (p.Ser560Cys)
c.1712C>G (p.Ser571Cys)
c.1706C>G (p.Ser569Cys)
c.611C>G (p.Ser204Cys)
1g.9264172C>TCA338193544H6PDc.1679C>T (p.Ser560Phe)
c.1712C>T (p.Ser571Phe)
c.1706C>T (p.Ser569Phe)
c.611C>T (p.Ser204Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.9264173C>ACA416031400H6PDc.1680C>A (p.Ser560=)
c.1713C>A (p.Ser571=)
c.1707C>A (p.Ser569=)
c.612C>A (p.Ser204=)
1g.9264173C=CA1143902317H6PDc.1680C= (p.Ser560=)
c.1713C= (p.Ser571=)
c.1707C= (p.Ser569=)
c.612C= (p.Ser204=)
1g.9264173C>GCA416031408H6PDc.1680C>G (p.Ser560=)
c.1713C>G (p.Ser571=)
c.1707C>G (p.Ser569=)
c.612C>G (p.Ser204=)
1g.9264173C>TCA575378H6PDc.1680C>T (p.Ser560=)
c.1713C>T (p.Ser571=)
c.1707C>T (p.Ser569=)
c.612C>T (p.Ser204=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264174G>ACA575379H6PDc.1681G>A (p.Glu561Lys)
c.1714G>A (p.Glu572Lys)
c.1708G>A (p.Glu570Lys)
c.613G>A (p.Glu205Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264174G>CCA338193545H6PDc.1681G>C (p.Glu561Gln)
c.1714G>C (p.Glu572Gln)
c.1708G>C (p.Glu570Gln)
c.613G>C (p.Glu205Gln)
 gnomAD v4
1g.9264174G=CA1142342024H6PDc.1681G= (p.Glu561=)
c.1714G= (p.Glu572=)
c.1708G= (p.Glu570=)
c.613G= (p.Glu205=)
1g.9264174G>TCA338193546H6PDc.1681G>T (p.Glu561Ter)
c.1714G>T (p.Glu572Ter)
c.1708G>T (p.Glu570Ter)
c.613G>T (p.Glu205Ter)
 COSMIC
1g.9264175A>CCA338193547H6PDc.1682A>C (p.Glu561Ala)
c.1715A>C (p.Glu572Ala)
c.1709A>C (p.Glu570Ala)
c.614A>C (p.Glu205Ala)
1g.9264175A>GCA338193548H6PDc.1682A>G (p.Glu561Gly)
c.1715A>G (p.Glu572Gly)
c.1709A>G (p.Glu570Gly)
c.614A>G (p.Glu205Gly)
1g.9264175A>TCA338193549H6PDc.1682A>T (p.Glu561Val)
c.1715A>T (p.Glu572Val)
c.1709A>T (p.Glu570Val)
c.614A>T (p.Glu205Val)
1g.9264176G>ACA575380H6PDc.1683G>A (p.Glu561=)
c.1716G>A (p.Glu572=)
c.1710G>A (p.Glu570=)
c.615G>A (p.Glu205=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264176G>CCA338193550H6PDc.1683G>C (p.Glu561Asp)
c.1716G>C (p.Glu572Asp)
c.1710G>C (p.Glu570Asp)
c.615G>C (p.Glu205Asp)
1g.9264176G=CA1152694007H6PDc.1683G= (p.Glu561=)
c.1716G= (p.Glu572=)
c.1710G= (p.Glu570=)
c.615G= (p.Glu205=)
1g.9264176G>TCA338193551H6PDc.1683G>T (p.Glu561Asp)
c.1716G>T (p.Glu572Asp)
c.1710G>T (p.Glu570Asp)
c.615G>T (p.Glu205Asp)
1g.9264177G>ACA338193554H6PDc.1684G>A (p.Glu562Lys)
c.1717G>A (p.Glu573Lys)
c.1711G>A (p.Glu571Lys)
c.616G>A (p.Glu206Lys)
1g.9264177G>CCA338193552H6PDc.1684G>C (p.Glu562Gln)
c.1717G>C (p.Glu573Gln)
c.1711G>C (p.Glu571Gln)
c.616G>C (p.Glu206Gln)
1g.9264177G>TCA338193553H6PDc.1684G>T (p.Glu562Ter)
c.1717G>T (p.Glu573Ter)
c.1711G>T (p.Glu571Ter)
c.616G>T (p.Glu206Ter)
 gnomAD v4
1g.9264178A>CCA338193555H6PDc.1685A>C (p.Glu562Ala)
c.1718A>C (p.Glu573Ala)
c.1712A>C (p.Glu571Ala)
c.617A>C (p.Glu206Ala)
1g.9264178A>GCA338193556H6PDc.1685A>G (p.Glu562Gly)
c.1718A>G (p.Glu573Gly)
c.1712A>G (p.Glu571Gly)
c.617A>G (p.Glu206Gly)
1g.9264178A>TCA338193557H6PDc.1685A>T (p.Glu562Val)
c.1718A>T (p.Glu573Val)
c.1712A>T (p.Glu571Val)
c.617A>T (p.Glu206Val)
1g.9264179G>ACA575381H6PDc.1686G>A (p.Glu562=)
c.1719G>A (p.Glu573=)
c.1713G>A (p.Glu571=)
c.618G>A (p.Glu206=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264179G>CCA338193558H6PDc.1686G>C (p.Glu562Asp)
c.1719G>C (p.Glu573Asp)
c.1713G>C (p.Glu571Asp)
c.618G>C (p.Glu206Asp)
1g.9264179G=CA1152694013H6PDc.1686G= (p.Glu562=)
c.1719G= (p.Glu573=)
c.1713G= (p.Glu571=)
c.618G= (p.Glu206=)
1g.9264179G>TCA338193559H6PDc.1686G>T (p.Glu562Asp)
c.1719G>T (p.Glu573Asp)
c.1713G>T (p.Glu571Asp)
c.618G>T (p.Glu206Asp)
1g.9264180C>ACA338193560H6PDc.1687C>A (p.Leu563Met)
c.1720C>A (p.Leu574Met)
c.1714C>A (p.Leu572Met)
c.619C>A (p.Leu207Met)
1g.9264180C>GCA338193561H6PDc.1687C>G (p.Leu563Val)
c.1720C>G (p.Leu574Val)
c.1714C>G (p.Leu572Val)
c.619C>G (p.Leu207Val)
1g.9264180C>TCA416031421H6PDc.1687C>T (p.Leu563=)
c.1720C>T (p.Leu574=)
c.1714C>T (p.Leu572=)
c.619C>T (p.Leu207=)
1g.9264181T>ACA338193562H6PDc.1688T>A (p.Leu563Gln)
c.1721T>A (p.Leu574Gln)
c.1715T>A (p.Leu572Gln)
c.620T>A (p.Leu207Gln)
1g.9264181T>CCA338193563H6PDc.1688T>C (p.Leu563Pro)
c.1721T>C (p.Leu574Pro)
c.1715T>C (p.Leu572Pro)
c.620T>C (p.Leu207Pro)
 gnomAD v4
1g.9264181T>GCA338193564H6PDc.1688T>G (p.Leu563Arg)
c.1721T>G (p.Leu574Arg)
c.1715T>G (p.Leu572Arg)
c.620T>G (p.Leu207Arg)
1g.9264182G>ACA416031429H6PDc.1689G>A (p.Leu563=)
c.1722G>A (p.Leu574=)
c.1716G>A (p.Leu572=)
c.621G>A (p.Leu207=)
1g.9264182G>CCA416031430H6PDc.1689G>C (p.Leu563=)
c.1722G>C (p.Leu574=)
c.1716G>C (p.Leu572=)
c.621G>C (p.Leu207=)
1g.9264182G>TCA416031431H6PDc.1689G>T (p.Leu563=)
c.1722G>T (p.Leu574=)
c.1716G>T (p.Leu572=)
c.621G>T (p.Leu207=)
1g.9264183A=CA1152694017H6PDc.1690A= (p.Ile564=)
c.1723A= (p.Ile575=)
c.1717A= (p.Ile573=)
c.622A= (p.Ile208=)
1g.9264183A>CCA338193565H6PDc.1690A>C (p.Ile564Leu)
c.1723A>C (p.Ile575Leu)
c.1717A>C (p.Ile573Leu)
c.622A>C (p.Ile208Leu)
1g.9264183A>GCA338193567H6PDc.1690A>G (p.Ile564Val)
c.1723A>G (p.Ile575Val)
c.1717A>G (p.Ile573Val)
c.622A>G (p.Ile208Val)
 dbSNP gnomAD v4
1g.9264183A>TCA338193566H6PDc.1690A>T (p.Ile564Phe)
c.1723A>T (p.Ile575Phe)
c.1717A>T (p.Ile573Phe)
c.622A>T (p.Ile208Phe)
 gnomAD v4
1g.9264184T>ACA575382H6PDc.1691T>A (p.Ile564Asn)
c.1724T>A (p.Ile575Asn)
c.1718T>A (p.Ile573Asn)
c.623T>A (p.Ile208Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.9264184T>CCA338193569H6PDc.1691T>C (p.Ile564Thr)
c.1724T>C (p.Ile575Thr)
c.1718T>C (p.Ile573Thr)
c.623T>C (p.Ile208Thr)
 gnomAD v4
1g.9264184T>GCA338193568H6PDc.1691T>G (p.Ile564Ser)
c.1724T>G (p.Ile575Ser)
c.1718T>G (p.Ile573Ser)
c.623T>G (p.Ile208Ser)
1g.9264184T=CA1148450576H6PDc.1691T= (p.Ile564=)
c.1724T= (p.Ile575=)
c.1718T= (p.Ile573=)
c.623T= (p.Ile208=)
1g.9264185C>ACA416031446H6PDc.1692C>A (p.Ile564=)
c.1725C>A (p.Ile575=)
c.1719C>A (p.Ile573=)
c.624C>A (p.Ile208=)
1g.9264185C=CA1152694031H6PDc.1692C= (p.Ile564=)
c.1725C= (p.Ile575=)
c.1719C= (p.Ile573=)
c.624C= (p.Ile208=)
1g.9264185C>GCA338193570H6PDc.1692C>G (p.Ile564Met)
c.1725C>G (p.Ile575Met)
c.1719C>G (p.Ile573Met)
c.624C>G (p.Ile208Met)
1g.9264185C>TCA416031450H6PDc.1692C>T (p.Ile564=)
c.1725C>T (p.Ile575=)
c.1719C>T (p.Ile573=)
c.624C>T (p.Ile208=)
 dbSNP gnomAD v4
1g.9264186T>ACA338193572H6PDc.1693T>A (p.Ser565Thr)
c.1726T>A (p.Ser576Thr)
c.1720T>A (p.Ser574Thr)
c.625T>A (p.Ser209Thr)
1g.9264186T>CCA575383H6PDc.1693T>C (p.Ser565Pro)
c.1726T>C (p.Ser576Pro)
c.1720T>C (p.Ser574Pro)
c.625T>C (p.Ser209Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.9264186T>GCA338193571H6PDc.1693T>G (p.Ser565Ala)
c.1726T>G (p.Ser576Ala)
c.1720T>G (p.Ser574Ala)
c.625T>G (p.Ser209Ala)
1g.9264186T=CA1152694050H6PDc.1693T= (p.Ser565=)
c.1726T= (p.Ser576=)
c.1720T= (p.Ser574=)
c.625T= (p.Ser209=)
1g.9264187C>ACA338193573H6PDc.1694C>A (p.Ser565Tyr)
c.1727C>A (p.Ser576Tyr)
c.1721C>A (p.Ser574Tyr)
c.626C>A (p.Ser209Tyr)
1g.9264187C>GCA338193574H6PDc.1694C>G (p.Ser565Cys)
c.1727C>G (p.Ser576Cys)
c.1721C>G (p.Ser574Cys)
c.626C>G (p.Ser209Cys)
1g.9264187C>TCA338193575H6PDc.1694C>T (p.Ser565Phe)
c.1727C>T (p.Ser576Phe)
c.1721C>T (p.Ser574Phe)
c.626C>T (p.Ser209Phe)
1g.9264188T>ACA416031461H6PDc.1695T>A (p.Ser565=)
c.1728T>A (p.Ser576=)
c.1722T>A (p.Ser574=)
c.627T>A (p.Ser209=)
1g.9264188T>CCA416031462H6PDc.1695T>C (p.Ser565=)
c.1728T>C (p.Ser576=)
c.1722T>C (p.Ser574=)
c.627T>C (p.Ser209=)
 gnomAD v4
1g.9264188T>GCA416031463H6PDc.1695T>G (p.Ser565=)
c.1728T>G (p.Ser576=)
c.1722T>G (p.Ser574=)
c.627T>G (p.Ser209=)
1g.9264189A>CCA338193576H6PDc.1696A>C (p.Lys566Gln)
c.1729A>C (p.Lys577Gln)
c.1723A>C (p.Lys575Gln)
c.628A>C (p.Lys210Gln)
1g.9264189A>GCA338193577H6PDc.1696A>G (p.Lys566Glu)
c.1729A>G (p.Lys577Glu)
c.1723A>G (p.Lys575Glu)
c.628A>G (p.Lys210Glu)
1g.9264189A>TCA338193578H6PDc.1696A>T (p.Lys566Ter)
c.1729A>T (p.Lys577Ter)
c.1723A>T (p.Lys575Ter)
c.628A>T (p.Lys210Ter)
1g.9264190A>CCA338193579H6PDc.1697A>C (p.Lys566Thr)
c.1730A>C (p.Lys577Thr)
c.1724A>C (p.Lys575Thr)
c.629A>C (p.Lys210Thr)
1g.9264190A>GCA338193580H6PDc.1697A>G (p.Lys566Arg)
c.1730A>G (p.Lys577Arg)
c.1724A>G (p.Lys575Arg)
c.629A>G (p.Lys210Arg)
1g.9264190A>TCA338193581H6PDc.1697A>T (p.Lys566Met)
c.1730A>T (p.Lys577Met)
c.1724A>T (p.Lys575Met)
c.629A>T (p.Lys210Met)
1g.9264191G>ACA416031473H6PDc.1698G>A (p.Lys566=)
c.1731G>A (p.Lys577=)
c.1725G>A (p.Lys575=)
c.630G>A (p.Lys210=)
 gnomAD v4
1g.9264191G>CCA338193582H6PDc.1698G>C (p.Lys566Asn)
c.1731G>C (p.Lys577Asn)
c.1725G>C (p.Lys575Asn)
c.630G>C (p.Lys210Asn)
1g.9264191G>TCA338193583H6PDc.1698G>T (p.Lys566Asn)
c.1731G>T (p.Lys577Asn)
c.1725G>T (p.Lys575Asn)
c.630G>T (p.Lys210Asn)
1g.9264192C>ACA338193585H6PDc.1699C>A (p.Leu567Met)
c.1732C>A (p.Leu578Met)
c.1726C>A (p.Leu576Met)
c.631C>A (p.Leu211Met)
1g.9264192C>GCA338193584H6PDc.1699C>G (p.Leu567Val)
c.1732C>G (p.Leu578Val)
c.1726C>G (p.Leu576Val)
c.631C>G (p.Leu211Val)
1g.9264192C>TCA416031475H6PDc.1699C>T (p.Leu567=)
c.1732C>T (p.Leu578=)
c.1726C>T (p.Leu576=)
c.631C>T (p.Leu211=)
 gnomAD v4
1g.9264193T>ACA338193586H6PDc.1700T>A (p.Leu567Gln)
c.1733T>A (p.Leu578Gln)
c.1727T>A (p.Leu576Gln)
c.632T>A (p.Leu211Gln)
1g.9264193T>CCA338193587H6PDc.1700T>C (p.Leu567Pro)
c.1733T>C (p.Leu578Pro)
c.1727T>C (p.Leu576Pro)
c.632T>C (p.Leu211Pro)
1g.9264193T>GCA338193588H6PDc.1700T>G (p.Leu567Arg)
c.1733T>G (p.Leu578Arg)
c.1727T>G (p.Leu576Arg)
c.632T>G (p.Leu211Arg)
1g.9264194G>ACA17751312H6PDc.1701G>A (p.Leu567=)
c.1734G>A (p.Leu578=)
c.1728G>A (p.Leu576=)
c.633G>A (p.Leu211=)
 dbSNP gnomAD v2 gnomAD v4
1g.9264194G>CCA575384H6PDc.1701G>C (p.Leu567=)
c.1734G>C (p.Leu578=)
c.1728G>C (p.Leu576=)
c.633G>C (p.Leu211=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.9264194G=CA1152694054H6PDc.1701G= (p.Leu567=)
c.1734G= (p.Leu578=)
c.1728G= (p.Leu576=)
c.633G= (p.Leu211=)
1g.9264194G>TCA416031480H6PDc.1701G>T (p.Leu567=)
c.1734G>T (p.Leu578=)
c.1728G>T (p.Leu576=)
c.633G>T (p.Leu211=)
1g.9264195G>ACA338193589H6PDc.1702G>A (p.Ala568Thr)
c.1735G>A (p.Ala579Thr)
c.1729G>A (p.Ala577Thr)
c.634G>A (p.Ala212Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.9264195G>CCA338193590H6PDc.1702G>C (p.Ala568Pro)
c.1735G>C (p.Ala579Pro)
c.1729G>C (p.Ala577Pro)
c.634G>C (p.Ala212Pro)
 gnomAD v4
1g.9264195G=CA1152694057H6PDc.1702G= (p.Ala568=)
c.1735G= (p.Ala579=)
c.1729G= (p.Ala577=)
c.634G= (p.Ala212=)
1g.9264195G>TCA338193591H6PDc.1702G>T (p.Ala568Ser)
c.1735G>T (p.Ala579Ser)
c.1729G>T (p.Ala577Ser)
c.634G>T (p.Ala212Ser)
 gnomAD v4
1g.9264196C>ACA338193592H6PDc.1703C>A (p.Ala568Asp)
c.1736C>A (p.Ala579Asp)
c.1730C>A (p.Ala577Asp)
c.635C>A (p.Ala212Asp)
 dbSNP gnomAD v4
1g.9264196C=CA1148278806H6PDc.1703C= (p.Ala568=)
c.1736C= (p.Ala579=)
c.1730C= (p.Ala577=)
c.635C= (p.Ala212=)
1g.9264196C>GCA575385H6PDc.1703C>G (p.Ala568Gly)
c.1736C>G (p.Ala579Gly)
c.1730C>G (p.Ala577Gly)
c.635C>G (p.Ala212Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264196C>TCA338193593H6PDc.1703C>T (p.Ala568Val)
c.1736C>T (p.Ala579Val)
c.1730C>T (p.Ala577Val)
c.635C>T (p.Ala212Val)
1g.9264197T>ACA416031491H6PDc.1704T>A (p.Ala568=)
c.1737T>A (p.Ala579=)
c.1731T>A (p.Ala577=)
c.636T>A (p.Ala212=)
1g.9264197T>CCA416031492H6PDc.1704T>C (p.Ala568=)
c.1737T>C (p.Ala579=)
c.1731T>C (p.Ala577=)
c.636T>C (p.Ala212=)
1g.9264197T>GCA416031490H6PDc.1704T>G (p.Ala568=)
c.1737T>G (p.Ala579=)
c.1731T>G (p.Ala577=)
c.636T>G (p.Ala212=)
1g.9264198A=CA1152694064H6PDc.1705A= (p.Asn569=)
c.1738A= (p.Asn580=)
c.1732A= (p.Asn578=)
c.637A= (p.Asn213=)
1g.9264198A>CCA338193594H6PDc.1705A>C (p.Asn569His)
c.1738A>C (p.Asn580His)
c.1732A>C (p.Asn578His)
c.637A>C (p.Asn213His)
1g.9264198A>GCA17751335H6PDc.1705A>G (p.Asn569Asp)
c.1738A>G (p.Asn580Asp)
c.1732A>G (p.Asn578Asp)
c.637A>G (p.Asn213Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.9264198A>TCA338193595H6PDc.1705A>T (p.Asn569Tyr)
c.1738A>T (p.Asn580Tyr)
c.1732A>T (p.Asn578Tyr)
c.637A>T (p.Asn213Tyr)
1g.9264199A>CCA338193596H6PDc.1706A>C (p.Asn569Thr)
c.1739A>C (p.Asn580Thr)
c.1733A>C (p.Asn578Thr)
c.638A>C (p.Asn213Thr)
1g.9264199A>GCA338193598H6PDc.1706A>G (p.Asn569Ser)
c.1739A>G (p.Asn580Ser)
c.1733A>G (p.Asn578Ser)
c.638A>G (p.Asn213Ser)
1g.9264199A>TCA338193597H6PDc.1706A>T (p.Asn569Ile)
c.1739A>T (p.Asn580Ile)
c.1733A>T (p.Asn578Ile)
c.638A>T (p.Asn213Ile)
1g.9264200T>ACA575386H6PDc.1707T>A (p.Asn569Lys)
c.1740T>A (p.Asn580Lys)
c.1734T>A (p.Asn578Lys)
c.639T>A (p.Asn213Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264200T>CCA416031502H6PDc.1707T>C (p.Asn569=)
c.1740T>C (p.Asn580=)
c.1734T>C (p.Asn578=)
c.639T>C (p.Asn213=)
1g.9264200T>GCA575387H6PDc.1707T>G (p.Asn569Lys)
c.1740T>G (p.Asn580Lys)
c.1734T>G (p.Asn578Lys)
c.639T>G (p.Asn213Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.9264200T=CA1145969191H6PDc.1707T= (p.Asn569=)
c.1740T= (p.Asn580=)
c.1734T= (p.Asn578=)
c.639T= (p.Asn213=)
1g.9264202_9264219delCA2643115498H6PDc.1709_1726del (p.Asp570_Ala575del)
c.1742_1759del (p.Asp581_Ala586del)
c.1736_1753del (p.Asp579_Ala584del)
c.641_658del (p.Asp214_Ala219del)
 gnomAD v4
1g.9264201G>ACA338193599H6PDc.1708G>A (p.Asp570Asn)
c.1741G>A (p.Asp581Asn)
c.1735G>A (p.Asp579Asn)
c.640G>A (p.Asp214Asn)
1g.9264201G>CCA338193600H6PDc.1708G>C (p.Asp570His)
c.1741G>C (p.Asp581His)
c.1735G>C (p.Asp579His)
c.640G>C (p.Asp214His)
1g.9264201G>TCA338193601H6PDc.1708G>T (p.Asp570Tyr)
c.1741G>T (p.Asp581Tyr)
c.1735G>T (p.Asp579Tyr)
c.640G>T (p.Asp214Tyr)
1g.9264202A>CCA338193602H6PDc.1709A>C (p.Asp570Ala)
c.1742A>C (p.Asp581Ala)
c.1736A>C (p.Asp579Ala)
c.641A>C (p.Asp214Ala)
1g.9264202A>GCA338193603H6PDc.1709A>G (p.Asp570Gly)
c.1742A>G (p.Asp581Gly)
c.1736A>G (p.Asp579Gly)
c.641A>G (p.Asp214Gly)
1g.9264202A>TCA338193604H6PDc.1709A>T (p.Asp570Val)
c.1742A>T (p.Asp581Val)
c.1736A>T (p.Asp579Val)
c.641A>T (p.Asp214Val)
1g.9264203C>ACA338193605H6PDc.1710C>A (p.Asp570Glu)
c.1743C>A (p.Asp581Glu)
c.1737C>A (p.Asp579Glu)
c.642C>A (p.Asp214Glu)
1g.9264203C>GCA338193606H6PDc.1710C>G (p.Asp570Glu)
c.1743C>G (p.Asp581Glu)
c.1737C>G (p.Asp579Glu)
c.642C>G (p.Asp214Glu)
1g.9264203C>TCA416031510H6PDc.1710C>T (p.Asp570=)
c.1743C>T (p.Asp581=)
c.1737C>T (p.Asp579=)
c.642C>T (p.Asp214=)
1g.9264204A>CCA338193607H6PDc.1711A>C (p.Ile571Leu)
c.1744A>C (p.Ile582Leu)
c.1738A>C (p.Ile580Leu)
c.643A>C (p.Ile215Leu)
1g.9264204A>GCA338193608H6PDc.1711A>G (p.Ile571Val)
c.1744A>G (p.Ile582Val)
c.1738A>G (p.Ile580Val)
c.643A>G (p.Ile215Val)
1g.9264204A>TCA338193610H6PDc.1711A>T (p.Ile571Phe)
c.1744A>T (p.Ile582Phe)
c.1738A>T (p.Ile580Phe)
c.643A>T (p.Ile215Phe)
1g.9264205T>ACA338193612H6PDc.1712T>A (p.Ile571Asn)
c.1745T>A (p.Ile582Asn)
c.1739T>A (p.Ile580Asn)
c.644T>A (p.Ile215Asn)
1g.9264205T>CCA338193614H6PDc.1712T>C (p.Ile571Thr)
c.1745T>C (p.Ile582Thr)
c.1739T>C (p.Ile580Thr)
c.644T>C (p.Ile215Thr)
 dbSNP
1g.9264205T>GCA338193613H6PDc.1712T>G (p.Ile571Ser)
c.1745T>G (p.Ile582Ser)
c.1739T>G (p.Ile580Ser)
c.644T>G (p.Ile215Ser)
1g.9264205T=CA1152694071H6PDc.1712T= (p.Ile571=)
c.1745T= (p.Ile582=)
c.1739T= (p.Ile580=)
c.644T= (p.Ile215=)
1g.9264206C>ACA416031526H6PDc.1713C>A (p.Ile571=)
c.1746C>A (p.Ile582=)
c.1740C>A (p.Ile580=)
c.645C>A (p.Ile215=)
1g.9264206C=CA1149137194H6PDc.1713C= (p.Ile571=)
c.1746C= (p.Ile582=)
c.1740C= (p.Ile580=)
c.645C= (p.Ile215=)
1g.9264206C>GCA575388H6PDc.1713C>G (p.Ile571Met)
c.1746C>G (p.Ile582Met)
c.1740C>G (p.Ile580Met)
c.645C>G (p.Ile215Met)
 dbSNP ExAC gnomAD v2
1g.9264206C>TCA416031527H6PDc.1713C>T (p.Ile571=)
c.1746C>T (p.Ile582=)
c.1740C>T (p.Ile580=)
c.645C>T (p.Ile215=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.9264207G>ACA575389H6PDc.1714G>A (p.Glu572Lys)
c.1747G>A (p.Glu583Lys)
c.1741G>A (p.Glu581Lys)
c.646G>A (p.Glu216Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.9264207G>CCA17751344H6PDc.1714G>C (p.Glu572Gln)
c.1747G>C (p.Glu583Gln)
c.1741G>C (p.Glu581Gln)
c.646G>C (p.Glu216Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.9264207G=CA1147113779H6PDc.1714G= (p.Glu572=)
c.1747G= (p.Glu583=)
c.1741G= (p.Glu581=)
c.646G= (p.Glu216=)
1g.9264207G>TCA338193615H6PDc.1714G>T (p.Glu572Ter)
c.1747G>T (p.Glu583Ter)
c.1741G>T (p.Glu581Ter)
c.646G>T (p.Glu216Ter)
1g.9264208A>CCA338193616H6PDc.1715A>C (p.Glu572Ala)
c.1748A>C (p.Glu583Ala)
c.1742A>C (p.Glu581Ala)
c.647A>C (p.Glu216Ala)
1g.9264208A>GCA338193617H6PDc.1715A>G (p.Glu572Gly)
c.1748A>G (p.Glu583Gly)
c.1742A>G (p.Glu581Gly)
c.647A>G (p.Glu216Gly)
1g.9264208A>TCA338193618H6PDc.1715A>T (p.Glu572Val)
c.1748A>T (p.Glu583Val)
c.1742A>T (p.Glu581Val)
c.647A>T (p.Glu216Val)
1g.9264209G>ACA575390H6PDc.1716G>A (p.Glu572=)
c.1749G>A (p.Glu583=)
c.1743G>A (p.Glu581=)
c.648G>A (p.Glu216=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264209G>CCA338193619H6PDc.1716G>C (p.Glu572Asp)
c.1749G>C (p.Glu583Asp)
c.1743G>C (p.Glu581Asp)
c.648G>C (p.Glu216Asp)
 gnomAD v4
1g.9264209G=CA1152694086H6PDc.1716G= (p.Glu572=)
c.1749G= (p.Glu583=)
c.1743G= (p.Glu581=)
c.648G= (p.Glu216=)
1g.9264209G>TCA338193620H6PDc.1716G>T (p.Glu572Asp)
c.1749G>T (p.Glu583Asp)
c.1743G>T (p.Glu581Asp)
c.648G>T (p.Glu216Asp)
1g.9264210G>ACA338193622H6PDc.1717G>A (p.Ala573Thr)
c.1750G>A (p.Ala584Thr)
c.1744G>A (p.Ala582Thr)
c.649G>A (p.Ala217Thr)
1g.9264210G>CCA338193623H6PDc.1717G>C (p.Ala573Pro)
c.1750G>C (p.Ala584Pro)
c.1744G>C (p.Ala582Pro)
c.649G>C (p.Ala217Pro)
1g.9264210G>TCA338193621H6PDc.1717G>T (p.Ala573Ser)
c.1750G>T (p.Ala584Ser)
c.1744G>T (p.Ala582Ser)
c.649G>T (p.Ala217Ser)
 gnomAD v4
1g.9264211C>ACA338193626H6PDc.1718C>A (p.Ala573Asp)
c.1751C>A (p.Ala584Asp)
c.1745C>A (p.Ala582Asp)
c.650C>A (p.Ala217Asp)
1g.9264211C=CA1152694096H6PDc.1718C= (p.Ala573=)
c.1751C= (p.Ala584=)
c.1745C= (p.Ala582=)
c.650C= (p.Ala217=)
1g.9264211C>GCA338193624H6PDc.1718C>G (p.Ala573Gly)
c.1751C>G (p.Ala584Gly)
c.1745C>G (p.Ala582Gly)
c.650C>G (p.Ala217Gly)
 gnomAD v4
1g.9264211C>TCA338193625H6PDc.1718C>T (p.Ala573Val)
c.1751C>T (p.Ala584Val)
c.1745C>T (p.Ala582Val)
c.650C>T (p.Ala217Val)
 dbSNP gnomAD v2 gnomAD v4
1g.9264212C>ACA416031542H6PDc.1719C>A (p.Ala573=)
c.1752C>A (p.Ala584=)
c.1746C>A (p.Ala582=)
c.651C>A (p.Ala217=)
1g.9264212C>GCA416031544H6PDc.1719C>G (p.Ala573=)
c.1752C>G (p.Ala584=)
c.1746C>G (p.Ala582=)
c.651C>G (p.Ala217=)
1g.9264212C>TCA416031545H6PDc.1719C>T (p.Ala573=)
c.1752C>T (p.Ala584=)
c.1746C>T (p.Ala582=)
c.651C>T (p.Ala217=)
 gnomAD v4
1g.9264213A=CA1152694122H6PDc.1720A= (p.Thr574=)
c.1753A= (p.Thr585=)
c.1747A= (p.Thr583=)
c.652A= (p.Thr218=)
1g.9264213A>CCA338193627H6PDc.1720A>C (p.Thr574Pro)
c.1753A>C (p.Thr585Pro)
c.1747A>C (p.Thr583Pro)
c.652A>C (p.Thr218Pro)
1g.9264213A>GCA338193628H6PDc.1720A>G (p.Thr574Ala)
c.1753A>G (p.Thr585Ala)
c.1747A>G (p.Thr583Ala)
c.652A>G (p.Thr218Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.9264213A>TCA338193629H6PDc.1720A>T (p.Thr574Ser)
c.1753A>T (p.Thr585Ser)
c.1747A>T (p.Thr583Ser)
c.652A>T (p.Thr218Ser)
1g.9264214C>ACA338193630H6PDc.1721C>A (p.Thr574Asn)
c.1754C>A (p.Thr585Asn)
c.1748C>A (p.Thr583Asn)
c.653C>A (p.Thr218Asn)
1g.9264214C>GCA338193631H6PDc.1721C>G (p.Thr574Ser)
c.1754C>G (p.Thr585Ser)
c.1748C>G (p.Thr583Ser)
c.653C>G (p.Thr218Ser)
1g.9264214C>TCA338193632H6PDc.1721C>T (p.Thr574Ile)
c.1754C>T (p.Thr585Ile)
c.1748C>T (p.Thr583Ile)
c.653C>T (p.Thr218Ile)
 gnomAD v4
1g.9264215C>ACA416031555H6PDc.1722C>A (p.Thr574=)
c.1755C>A (p.Thr585=)
c.1749C>A (p.Thr583=)
c.654C>A (p.Thr218=)
 gnomAD v4
1g.9264215C=CA1143401450H6PDc.1722C= (p.Thr574=)
c.1755C= (p.Thr585=)
c.1749C= (p.Thr583=)
c.654C= (p.Thr218=)
1g.9264215C>GCA416031560H6PDc.1722C>G (p.Thr574=)
c.1755C>G (p.Thr585=)
c.1749C>G (p.Thr583=)
c.654C>G (p.Thr218=)
 gnomAD v4
1g.9264215C>TCA575391H6PDc.1722C>T (p.Thr574=)
c.1755C>T (p.Thr585=)
c.1749C>T (p.Thr583=)
c.654C>T (p.Thr218=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.9264216G>ACA575392H6PDc.1723G>A (p.Ala575Thr)
c.1756G>A (p.Ala586Thr)
c.1750G>A (p.Ala584Thr)
c.655G>A (p.Ala219Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264216G>CCA338193633H6PDc.1723G>C (p.Ala575Pro)
c.1756G>C (p.Ala586Pro)
c.1750G>C (p.Ala584Pro)
c.655G>C (p.Ala219Pro)
1g.9264216G=CA1142294361H6PDc.1723G= (p.Ala575=)
c.1756G= (p.Ala586=)
c.1750G= (p.Ala584=)
c.655G= (p.Ala219=)
1g.9264216G>TCA338193634H6PDc.1723G>T (p.Ala575Ser)
c.1756G>T (p.Ala586Ser)
c.1750G>T (p.Ala584Ser)
c.655G>T (p.Ala219Ser)
1g.9264217C>ACA338193637H6PDc.1724C>A (p.Ala575Asp)
c.1757C>A (p.Ala586Asp)
c.1751C>A (p.Ala584Asp)
c.656C>A (p.Ala219Asp)
1g.9264217C>GCA338193636H6PDc.1724C>G (p.Ala575Gly)
c.1757C>G (p.Ala586Gly)
c.1751C>G (p.Ala584Gly)
c.656C>G (p.Ala219Gly)
1g.9264217C>TCA338193635H6PDc.1724C>T (p.Ala575Val)
c.1757C>T (p.Ala586Val)
c.1751C>T (p.Ala584Val)
c.656C>T (p.Ala219Val)
 gnomAD v4
1g.9264218T>ACA416031567H6PDc.1725T>A (p.Ala575=)
c.1758T>A (p.Ala586=)
c.1752T>A (p.Ala584=)
c.657T>A (p.Ala219=)
1g.9264218T>CCA575393H6PDc.1725T>C (p.Ala575=)
c.1758T>C (p.Ala586=)
c.1752T>C (p.Ala584=)
c.657T>C (p.Ala219=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264218T>GCA416031568H6PDc.1725T>G (p.Ala575=)
c.1758T>G (p.Ala586=)
c.1752T>G (p.Ala584=)
c.657T>G (p.Ala219=)
1g.9264218T=CA1141533595H6PDc.1725T= (p.Ala575=)
c.1758T= (p.Ala586=)
c.1752T= (p.Ala584=)
c.657T= (p.Ala219=)
1g.9264219G>ACA338193638H6PDc.1726G>A (p.Val576Met)
c.1759G>A (p.Val587Met)
c.1753G>A (p.Val585Met)
c.658G>A (p.Val220Met)
 gnomAD v4
1g.9264219G>CCA338193639H6PDc.1726G>C (p.Val576Leu)
c.1759G>C (p.Val587Leu)
c.1753G>C (p.Val585Leu)
c.658G>C (p.Val220Leu)
1g.9264219G>TCA338193640H6PDc.1726G>T (p.Val576Leu)
c.1759G>T (p.Val587Leu)
c.1753G>T (p.Val585Leu)
c.658G>T (p.Val220Leu)
1g.9264220T>ACA338193641H6PDc.1727T>A (p.Val576Glu)
c.1760T>A (p.Val587Glu)
c.1754T>A (p.Val585Glu)
c.659T>A (p.Val220Glu)
1g.9264220T>CCA338193642H6PDc.1727T>C (p.Val576Ala)
c.1760T>C (p.Val587Ala)
c.1754T>C (p.Val585Ala)
c.659T>C (p.Val220Ala)
 dbSNP gnomAD v4
1g.9264220T>GCA338193643H6PDc.1727T>G (p.Val576Gly)
c.1760T>G (p.Val587Gly)
c.1754T>G (p.Val585Gly)
c.659T>G (p.Val220Gly)
1g.9264220T=CA1152694151H6PDc.1727T= (p.Val576=)
c.1760T= (p.Val587=)
c.1754T= (p.Val585=)
c.659T= (p.Val220=)
1g.9264221G>ACA416031571H6PDc.1728G>A (p.Val576=)
c.1761G>A (p.Val587=)
c.1755G>A (p.Val585=)
c.660G>A (p.Val220=)
 gnomAD v4
1g.9264221G>CCA416031575H6PDc.1728G>C (p.Val576=)
c.1761G>C (p.Val587=)
c.1755G>C (p.Val585=)
c.660G>C (p.Val220=)
1g.9264221G>TCA416031574H6PDc.1728G>T (p.Val576=)
c.1761G>T (p.Val587=)
c.1755G>T (p.Val585=)
c.660G>T (p.Val220=)
1g.9264222C>ACA416031576H6PDc.1729C>A (p.Arg577=)
c.1762C>A (p.Arg588=)
c.1756C>A (p.Arg586=)
c.661C>A (p.Arg221=)
1g.9264222C=CA1152694158H6PDc.1729C= (p.Arg577=)
c.1762C= (p.Arg588=)
c.1756C= (p.Arg586=)
c.661C= (p.Arg221=)
1g.9264222C>GCA338193644H6PDc.1729C>G (p.Arg577Gly)
c.1762C>G (p.Arg588Gly)
c.1756C>G (p.Arg586Gly)
c.661C>G (p.Arg221Gly)
 gnomAD v4
1g.9264222C>TCA575394H6PDc.1729C>T (p.Arg577Ter)
c.1762C>T (p.Arg588Ter)
c.1756C>T (p.Arg586Ter)
c.661C>T (p.Arg221Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264223G>ACA575395H6PDc.1730G>A (p.Arg577Gln)
c.1763G>A (p.Arg588Gln)
c.1757G>A (p.Arg586Gln)
c.662G>A (p.Arg221Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264223G>CCA338193645H6PDc.1730G>C (p.Arg577Pro)
c.1763G>C (p.Arg588Pro)
c.1757G>C (p.Arg586Pro)
c.662G>C (p.Arg221Pro)
1g.9264223G=CA1143461960H6PDc.1730G= (p.Arg577=)
c.1763G= (p.Arg588=)
c.1757G= (p.Arg586=)
c.662G= (p.Arg221=)
1g.9264223G>TCA338193646H6PDc.1730G>T (p.Arg577Leu)
c.1763G>T (p.Arg588Leu)
c.1757G>T (p.Arg586Leu)
c.662G>T (p.Arg221Leu)
1g.9264224A>CCA416031581H6PDc.1731A>C (p.Arg577=)
c.1764A>C (p.Arg588=)
c.1758A>C (p.Arg586=)
c.663A>C (p.Arg221=)
1g.9264224A>GCA416031586H6PDc.1731A>G (p.Arg577=)
c.1764A>G (p.Arg588=)
c.1758A>G (p.Arg586=)
c.663A>G (p.Arg221=)
1g.9264224A>TCA416031588H6PDc.1731A>T (p.Arg577=)
c.1764A>T (p.Arg588=)
c.1758A>T (p.Arg586=)
c.663A>T (p.Arg221=)
1g.9264225G>ACA338193649H6PDc.1732G>A (p.Ala578Thr)
c.1765G>A (p.Ala589Thr)
c.1759G>A (p.Ala587Thr)
c.664G>A (p.Ala222Thr)
1g.9264225G>CCA338193648H6PDc.1732G>C (p.Ala578Pro)
c.1765G>C (p.Ala589Pro)
c.1759G>C (p.Ala587Pro)
c.664G>C (p.Ala222Pro)
1g.9264225G>TCA338193647H6PDc.1732G>T (p.Ala578Ser)
c.1765G>T (p.Ala589Ser)
c.1759G>T (p.Ala587Ser)
c.664G>T (p.Ala222Ser)
 gnomAD v4
1g.9264226C>ACA338193650H6PDc.1733C>A (p.Ala578Asp)
c.1766C>A (p.Ala589Asp)
c.1760C>A (p.Ala587Asp)
c.665C>A (p.Ala222Asp)
1g.9264226C>GCA338193651H6PDc.1733C>G (p.Ala578Gly)
c.1766C>G (p.Ala589Gly)
c.1760C>G (p.Ala587Gly)
c.665C>G (p.Ala222Gly)
1g.9264226C>TCA338193652H6PDc.1733C>T (p.Ala578Val)
c.1766C>T (p.Ala589Val)
c.1760C>T (p.Ala587Val)
c.665C>T (p.Ala222Val)
 gnomAD v4
1g.9264227C>ACA416031597H6PDc.1734C>A (p.Ala578=)
c.1767C>A (p.Ala589=)
c.1761C>A (p.Ala587=)
c.666C>A (p.Ala222=)
1g.9264227C=CA1141084128H6PDc.1734C= (p.Ala578=)
c.1767C= (p.Ala589=)
c.1761C= (p.Ala587=)
c.666C= (p.Ala222=)
1g.9264227C>GCA416031598H6PDc.1734C>G (p.Ala578=)
c.1767C>G (p.Ala589=)
c.1761C>G (p.Ala587=)
c.666C>G (p.Ala222=)
1g.9264227C>TCA575396H6PDc.1734C>T (p.Ala578=)
c.1767C>T (p.Ala589=)
c.1761C>T (p.Ala587=)
c.666C>T (p.Ala222=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264228G>ACA575397H6PDc.1735G>A (p.Val579Met)
c.1768G>A (p.Val590Met)
c.1762G>A (p.Val588Met)
c.667G>A (p.Val223Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264228G>CCA338193653H6PDc.1735G>C (p.Val579Leu)
c.1768G>C (p.Val590Leu)
c.1762G>C (p.Val588Leu)
c.667G>C (p.Val223Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.9264228G=CA1152694192H6PDc.1735G= (p.Val579=)
c.1768G= (p.Val590=)
c.1762G= (p.Val588=)
c.667G= (p.Val223=)
1g.9264228G>TCA338193654H6PDc.1735G>T (p.Val579Leu)
c.1768G>T (p.Val590Leu)
c.1762G>T (p.Val588Leu)
c.667G>T (p.Val223Leu)
1g.9264229T>ACA338193655H6PDc.1736T>A (p.Val579Glu)
c.1769T>A (p.Val590Glu)
c.1763T>A (p.Val588Glu)
c.668T>A (p.Val223Glu)
1g.9264229T>CCA338193656H6PDc.1736T>C (p.Val579Ala)
c.1769T>C (p.Val590Ala)
c.1763T>C (p.Val588Ala)
c.668T>C (p.Val223Ala)
1g.9264229T>GCA338193657H6PDc.1736T>G (p.Val579Gly)
c.1769T>G (p.Val590Gly)
c.1763T>G (p.Val588Gly)
c.668T>G (p.Val223Gly)
1g.9264230G>ACA416031618H6PDc.1737G>A (p.Val579=)
c.1770G>A (p.Val590=)
c.1764G>A (p.Val588=)
c.669G>A (p.Val223=)
1g.9264230G>CCA416031616H6PDc.1737G>C (p.Val579=)
c.1770G>C (p.Val590=)
c.1764G>C (p.Val588=)
c.669G>C (p.Val223=)
1g.9264230G>TCA416031615H6PDc.1737G>T (p.Val579=)
c.1770G>T (p.Val590=)
c.1764G>T (p.Val588=)
c.669G>T (p.Val223=)
 gnomAD v4
1g.9264231C>ACA416031619H6PDc.1738C>A (p.Arg580=)
c.1771C>A (p.Arg591=)
c.1765C>A (p.Arg589=)
c.670C>A (p.Arg224=)
1g.9264231C=CA1152694202H6PDc.1738C= (p.Arg580=)
c.1771C= (p.Arg591=)
c.1765C= (p.Arg589=)
c.670C= (p.Arg224=)
1g.9264231C>GCA338193658H6PDc.1738C>G (p.Arg580Gly)
c.1771C>G (p.Arg591Gly)
c.1765C>G (p.Arg589Gly)
c.670C>G (p.Arg224Gly)
1g.9264231C>TCA575398H6PDc.1738C>T (p.Arg580Trp)
c.1771C>T (p.Arg591Trp)
c.1765C>T (p.Arg589Trp)
c.670C>T (p.Arg224Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.9264232G>ACA575399H6PDc.1739G>A (p.Arg580Gln)
c.1772G>A (p.Arg591Gln)
c.1766G>A (p.Arg589Gln)
c.671G>A (p.Arg224Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264232G>CCA338193660H6PDc.1739G>C (p.Arg580Pro)
c.1772G>C (p.Arg591Pro)
c.1766G>C (p.Arg589Pro)
c.671G>C (p.Arg224Pro)
1g.9264232G=CA1152694213H6PDc.1739G= (p.Arg580=)
c.1772G= (p.Arg591=)
c.1766G= (p.Arg589=)
c.671G= (p.Arg224=)
1g.9264232G>TCA338193659H6PDc.1739G>T (p.Arg580Leu)
c.1772G>T (p.Arg591Leu)
c.1766G>T (p.Arg589Leu)
c.671G>T (p.Arg224Leu)
 gnomAD v4
1g.9264233G>ACA575400H6PDc.1740G>A (p.Arg580=)
c.1773G>A (p.Arg591=)
c.1767G>A (p.Arg589=)
c.672G>A (p.Arg224=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264233G>CCA416031626H6PDc.1740G>C (p.Arg580=)
c.1773G>C (p.Arg591=)
c.1767G>C (p.Arg589=)
c.672G>C (p.Arg224=)
1g.9264233G=CA1141274646H6PDc.1740G= (p.Arg580=)
c.1773G= (p.Arg591=)
c.1767G= (p.Arg589=)
c.672G= (p.Arg224=)
1g.9264233G>TCA416031627H6PDc.1740G>T (p.Arg580=)
c.1773G>T (p.Arg591=)
c.1767G>T (p.Arg589=)
c.672G>T (p.Arg224=)
1g.9264234C>ACA338193661H6PDc.1741C>A (p.Arg581Ser)
c.1774C>A (p.Arg592Ser)
c.1768C>A (p.Arg590Ser)
c.673C>A (p.Arg225Ser)
 gnomAD v4
1g.9264234C=CA1152694222H6PDc.1741C= (p.Arg581=)
c.1774C= (p.Arg592=)
c.1768C= (p.Arg590=)
c.673C= (p.Arg225=)
1g.9264234C>GCA338193662H6PDc.1741C>G (p.Arg581Gly)
c.1774C>G (p.Arg592Gly)
c.1768C>G (p.Arg590Gly)
c.673C>G (p.Arg225Gly)
1g.9264234C>TCA575401H6PDc.1741C>T (p.Arg581Cys)
c.1774C>T (p.Arg592Cys)
c.1768C>T (p.Arg590Cys)
c.673C>T (p.Arg225Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.9264235G>ACA575402H6PDc.1742G>A (p.Arg581His)
c.1775G>A (p.Arg592His)
c.1769G>A (p.Arg590His)
c.674G>A (p.Arg225His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264235G>CCA338193664H6PDc.1742G>C (p.Arg581Pro)
c.1775G>C (p.Arg592Pro)
c.1769G>C (p.Arg590Pro)
c.674G>C (p.Arg225Pro)
1g.9264235G=CA1142243722H6PDc.1742G= (p.Arg581=)
c.1775G= (p.Arg592=)
c.1769G= (p.Arg590=)
c.674G= (p.Arg225=)
1g.9264235G>TCA338193663H6PDc.1742G>T (p.Arg581Leu)
c.1775G>T (p.Arg592Leu)
c.1769G>T (p.Arg590Leu)
c.674G>T (p.Arg225Leu)
 dbSNP gnomAD v2
1g.9264235_9264257delinsGCTTTGGCCAGTTCCACCTGGCACA1152694236H6PDc.1742_1764delinsGCTTTGGCCAGTTCCACCTGGCA (p.Arg581=)
c.1775_1797delinsGCTTTGGCCAGTTCCACCTGGCA (p.Arg592=)
c.1769_1791delinsGCTTTGGCCAGTTCCACCTGGCA (p.Arg590=)
c.674_696delinsGCTTTGGCCAGTTCCACCTGGCA (p.Arg225=)
1g.9264236C>ACA416031634H6PDc.1743C>A (p.Arg581=)
c.1776C>A (p.Arg592=)
c.1770C>A (p.Arg590=)
c.675C>A (p.Arg225=)
1g.9264236C>GCA416031635H6PDc.1743C>G (p.Arg581=)
c.1776C>G (p.Arg592=)
c.1770C>G (p.Arg590=)
c.675C>G (p.Arg225=)
1g.9264236C>TCA416031637H6PDc.1743C>T (p.Arg581=)
c.1776C>T (p.Arg592=)
c.1770C>T (p.Arg590=)
c.675C>T (p.Arg225=)
1g.9264238_9264259delCA575403H6PDc.1745_1766del (p.Phe582CysfsTer?)
c.1778_1799del (p.Phe593CysfsTer?)
c.1772_1793del (p.Phe591CysfsTer?)
c.677_698del (p.Phe226CysfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264237T>ACA338193665H6PDc.1744T>A (p.Phe582Ile)
c.1777T>A (p.Phe593Ile)
c.1771T>A (p.Phe591Ile)
c.676T>A (p.Phe226Ile)
1g.9264237T>CCA338193666H6PDc.1744T>C (p.Phe582Leu)
c.1777T>C (p.Phe593Leu)
c.1771T>C (p.Phe591Leu)
c.676T>C (p.Phe226Leu)
1g.9264237T>GCA338193667H6PDc.1744T>G (p.Phe582Val)
c.1777T>G (p.Phe593Val)
c.1771T>G (p.Phe591Val)
c.676T>G (p.Phe226Val)
1g.9264238T>ACA338193668H6PDc.1745T>A (p.Phe582Tyr)
c.1778T>A (p.Phe593Tyr)
c.1772T>A (p.Phe591Tyr)
c.677T>A (p.Phe226Tyr)
1g.9264238T>CCA338193669H6PDc.1745T>C (p.Phe582Ser)
c.1778T>C (p.Phe593Ser)
c.1772T>C (p.Phe591Ser)
c.677T>C (p.Phe226Ser)
 dbSNP
1g.9264238T>GCA338193670H6PDc.1745T>G (p.Phe582Cys)
c.1778T>G (p.Phe593Cys)
c.1772T>G (p.Phe591Cys)
c.677T>G (p.Phe226Cys)
1g.9264238T=CA1152694243H6PDc.1745T= (p.Phe582=)
c.1778T= (p.Phe593=)
c.1772T= (p.Phe591=)
c.677T= (p.Phe226=)
1g.9264239T>ACA338193671H6PDc.1746T>A (p.Phe582Leu)
c.1779T>A (p.Phe593Leu)
c.1773T>A (p.Phe591Leu)
c.678T>A (p.Phe226Leu)
1g.9264239T>CCA416031646H6PDc.1746T>C (p.Phe582=)
c.1779T>C (p.Phe593=)
c.1773T>C (p.Phe591=)
c.678T>C (p.Phe226=)
1g.9264239T>GCA338193672H6PDc.1746T>G (p.Phe582Leu)
c.1779T>G (p.Phe593Leu)
c.1773T>G (p.Phe591Leu)
c.678T>G (p.Phe226Leu)
 gnomAD v4
1g.9264240G>ACA338193673H6PDc.1747G>A (p.Gly583Ser)
c.1780G>A (p.Gly594Ser)
c.1774G>A (p.Gly592Ser)
c.679G>A (p.Gly227Ser)
1g.9264240G>CCA338193675H6PDc.1747G>C (p.Gly583Arg)
c.1780G>C (p.Gly594Arg)
c.1774G>C (p.Gly592Arg)
c.679G>C (p.Gly227Arg)
1g.9264240G>TCA338193674H6PDc.1747G>T (p.Gly583Cys)
c.1780G>T (p.Gly594Cys)
c.1774G>T (p.Gly592Cys)
c.679G>T (p.Gly227Cys)
1g.9264241G>ACA575404H6PDc.1748G>A (p.Gly583Asp)
c.1781G>A (p.Gly594Asp)
c.1775G>A (p.Gly592Asp)
c.680G>A (p.Gly227Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264241G>CCA338193676H6PDc.1748G>C (p.Gly583Ala)
c.1781G>C (p.Gly594Ala)
c.1775G>C (p.Gly592Ala)
c.680G>C (p.Gly227Ala)
1g.9264241G=CA1143420364H6PDc.1748G= (p.Gly583=)
c.1781G= (p.Gly594=)
c.1775G= (p.Gly592=)
c.680G= (p.Gly227=)
1g.9264241G>TCA338193677H6PDc.1748G>T (p.Gly583Val)
c.1781G>T (p.Gly594Val)
c.1775G>T (p.Gly592Val)
c.680G>T (p.Gly227Val)
 dbSNP gnomAD v2 gnomAD v4
1g.9264242C>ACA416031666H6PDc.1749C>A (p.Gly583=)
c.1782C>A (p.Gly594=)
c.1776C>A (p.Gly592=)
c.681C>A (p.Gly227=)
1g.9264242C>GCA416031658H6PDc.1749C>G (p.Gly583=)
c.1782C>G (p.Gly594=)
c.1776C>G (p.Gly592=)
c.681C>G (p.Gly227=)
1g.9264242C>TCA416031664H6PDc.1749C>T (p.Gly583=)
c.1782C>T (p.Gly594=)
c.1776C>T (p.Gly592=)
c.681C>T (p.Gly227=)
 gnomAD v4
1g.9264243C>ACA338193678H6PDc.1750C>A (p.Gln584Lys)
c.1783C>A (p.Gln595Lys)
c.1777C>A (p.Gln593Lys)
c.682C>A (p.Gln228Lys)
1g.9264243C>GCA338193679H6PDc.1750C>G (p.Gln584Glu)
c.1783C>G (p.Gln595Glu)
c.1777C>G (p.Gln593Glu)
c.682C>G (p.Gln228Glu)
1g.9264243C>TCA338193680H6PDc.1750C>T (p.Gln584Ter)
c.1783C>T (p.Gln595Ter)
c.1777C>T (p.Gln593Ter)
c.682C>T (p.Gln228Ter)
1g.9264244A>CCA338193681H6PDc.1751A>C (p.Gln584Pro)
c.1784A>C (p.Gln595Pro)
c.1778A>C (p.Gln593Pro)
c.683A>C (p.Gln228Pro)
1g.9264244A>GCA338193682H6PDc.1751A>G (p.Gln584Arg)
c.1784A>G (p.Gln595Arg)
c.1778A>G (p.Gln593Arg)
c.683A>G (p.Gln228Arg)
1g.9264244A>TCA338193683H6PDc.1751A>T (p.Gln584Leu)
c.1784A>T (p.Gln595Leu)
c.1778A>T (p.Gln593Leu)
c.683A>T (p.Gln228Leu)
1g.9264245G>ACA416031673H6PDc.1752G>A (p.Gln584=)
c.1785G>A (p.Gln595=)
c.1779G>A (p.Gln593=)
c.684G>A (p.Gln228=)
1g.9264245G>CCA338193684H6PDc.1752G>C (p.Gln584His)
c.1785G>C (p.Gln595His)
c.1779G>C (p.Gln593His)
c.684G>C (p.Gln228His)
 dbSNP
1g.9264245G=CA1152694255H6PDc.1752G= (p.Gln584=)
c.1785G= (p.Gln595=)
c.1779G= (p.Gln593=)
c.684G= (p.Gln228=)
1g.9264245G>TCA338193685H6PDc.1752G>T (p.Gln584His)
c.1785G>T (p.Gln595His)
c.1779G>T (p.Gln593His)
c.684G>T (p.Gln228His)
 gnomAD v4
1g.9264246T>ACA338193688H6PDc.1753T>A (p.Phe585Ile)
c.1786T>A (p.Phe596Ile)
c.1780T>A (p.Phe594Ile)
c.685T>A (p.Phe229Ile)
1g.9264246T>CCA338193687H6PDc.1753T>C (p.Phe585Leu)
c.1786T>C (p.Phe596Leu)
c.1780T>C (p.Phe594Leu)
c.685T>C (p.Phe229Leu)
1g.9264246T>GCA338193686H6PDc.1753T>G (p.Phe585Val)
c.1786T>G (p.Phe596Val)
c.1780T>G (p.Phe594Val)
c.685T>G (p.Phe229Val)
1g.9264247T>ACA338193689H6PDc.1754T>A (p.Phe585Tyr)
c.1787T>A (p.Phe596Tyr)
c.1781T>A (p.Phe594Tyr)
c.686T>A (p.Phe229Tyr)
1g.9264247T>CCA338193690H6PDc.1754T>C (p.Phe585Ser)
c.1787T>C (p.Phe596Ser)
c.1781T>C (p.Phe594Ser)
c.686T>C (p.Phe229Ser)
1g.9264247T>GCA338193691H6PDc.1754T>G (p.Phe585Cys)
c.1787T>G (p.Phe596Cys)
c.1781T>G (p.Phe594Cys)
c.686T>G (p.Phe229Cys)
1g.9264248C>ACA338193692H6PDc.1755C>A (p.Phe585Leu)
c.1788C>A (p.Phe596Leu)
c.1782C>A (p.Phe594Leu)
c.687C>A (p.Phe229Leu)
 gnomAD v4
1g.9264248C>GCA338193693H6PDc.1755C>G (p.Phe585Leu)
c.1788C>G (p.Phe596Leu)
c.1782C>G (p.Phe594Leu)
c.687C>G (p.Phe229Leu)
1g.9264248C>TCA416031681H6PDc.1755C>T (p.Phe585=)
c.1788C>T (p.Phe596=)
c.1782C>T (p.Phe594=)
c.687C>T (p.Phe229=)
1g.9264249C>ACA338193694H6PDc.1756C>A (p.His586Asn)
c.1789C>A (p.His597Asn)
c.1783C>A (p.His595Asn)
c.688C>A (p.His230Asn)
1g.9264249C=CA1152694262H6PDc.1756C= (p.His586=)
c.1789C= (p.His597=)
c.1783C= (p.His595=)
c.688C= (p.His230=)
1g.9264249C>GCA338193695H6PDc.1756C>G (p.His586Asp)
c.1789C>G (p.His597Asp)
c.1783C>G (p.His595Asp)
c.688C>G (p.His230Asp)
1g.9264249C>TCA338193696H6PDc.1756C>T (p.His586Tyr)
c.1789C>T (p.His597Tyr)
c.1783C>T (p.His595Tyr)
c.688C>T (p.His230Tyr)
 dbSNP
1g.9264250A>CCA338193697H6PDc.1757A>C (p.His586Pro)
c.1790A>C (p.His597Pro)
c.1784A>C (p.His595Pro)
c.689A>C (p.His230Pro)
1g.9264250A>GCA338193698H6PDc.1757A>G (p.His586Arg)
c.1790A>G (p.His597Arg)
c.1784A>G (p.His595Arg)
c.689A>G (p.His230Arg)
1g.9264250A>TCA338193699H6PDc.1757A>T (p.His586Leu)
c.1790A>T (p.His597Leu)
c.1784A>T (p.His595Leu)
c.689A>T (p.His230Leu)
1g.9264251C>ACA338193700H6PDc.1758C>A (p.His586Gln)
c.1791C>A (p.His597Gln)
c.1785C>A (p.His595Gln)
c.690C>A (p.His230Gln)
1g.9264251C=CA1152694285H6PDc.1758C= (p.His586=)
c.1791C= (p.His597=)
c.1785C= (p.His595=)
c.690C= (p.His230=)
1g.9264251C>GCA338193701H6PDc.1758C>G (p.His586Gln)
c.1791C>G (p.His597Gln)
c.1785C>G (p.His595Gln)
c.690C>G (p.His230Gln)
1g.9264251C>TCA416031688H6PDc.1758C>T (p.His586=)
c.1791C>T (p.His597=)
c.1785C>T (p.His595=)
c.690C>T (p.His230=)
 dbSNP gnomAD v3 gnomAD v4
1g.9264252C>ACA338193703H6PDc.1759C>A (p.Leu587Met)
c.1792C>A (p.Leu598Met)
c.1786C>A (p.Leu596Met)
c.691C>A (p.Leu231Met)
1g.9264252C=CA1152694289H6PDc.1759C= (p.Leu587=)
c.1792C= (p.Leu598=)
c.1786C= (p.Leu596=)
c.691C= (p.Leu231=)
1g.9264252C>GCA338193702H6PDc.1759C>G (p.Leu587Val)
c.1792C>G (p.Leu598Val)
c.1786C>G (p.Leu596Val)
c.691C>G (p.Leu231Val)
 dbSNP gnomAD v2 gnomAD v4
1g.9264252C>TCA416031690H6PDc.1759C>T (p.Leu587=)
c.1792C>T (p.Leu598=)
c.1786C>T (p.Leu596=)
c.691C>T (p.Leu231=)
1g.9264253T>ACA338193704H6PDc.1760T>A (p.Leu587Gln)
c.1793T>A (p.Leu598Gln)
c.1787T>A (p.Leu596Gln)
c.692T>A (p.Leu231Gln)
1g.9264253T>CCA338193705H6PDc.1760T>C (p.Leu587Pro)
c.1793T>C (p.Leu598Pro)
c.1787T>C (p.Leu596Pro)
c.692T>C (p.Leu231Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.9264253T>GCA338193706H6PDc.1760T>G (p.Leu587Arg)
c.1793T>G (p.Leu598Arg)
c.1787T>G (p.Leu596Arg)
c.692T>G (p.Leu231Arg)
1g.9264253T=CA1152694292H6PDc.1760T= (p.Leu587=)
c.1793T= (p.Leu598=)
c.1787T= (p.Leu596=)
c.692T= (p.Leu231=)
1g.9264257_9264283dupCA2643115499H6PDc.1764_1790dup (p.Ala597_Leu598insLeuSerGlyGlySerSerProValAla)
c.1797_1823dup (p.Ala608_Leu609insLeuSerGlyGlySerSerProValAla)
c.1791_1817dup (p.Ala606_Leu607insLeuSerGlyGlySerSerProValAla)
c.696_722dup (p.Ala241_Leu242insLeuSerGlyGlySerSerProValAla)
 gnomAD v4
1g.9264254G>ACA416031695H6PDc.1761G>A (p.Leu587=)
c.1794G>A (p.Leu598=)
c.1788G>A (p.Leu596=)
c.693G>A (p.Leu231=)
1g.9264254G>CCA416031697H6PDc.1761G>C (p.Leu587=)
c.1794G>C (p.Leu598=)
c.1788G>C (p.Leu596=)
c.693G>C (p.Leu231=)
1g.9264254G>TCA416031698H6PDc.1761G>T (p.Leu587=)
c.1794G>T (p.Leu598=)
c.1788G>T (p.Leu596=)
c.693G>T (p.Leu231=)
1g.9264255G>ACA338193707H6PDc.1762G>A (p.Ala588Thr)
c.1795G>A (p.Ala599Thr)
c.1789G>A (p.Ala597Thr)
c.694G>A (p.Ala232Thr)
 gnomAD v4
1g.9264255G>CCA338193708H6PDc.1762G>C (p.Ala588Pro)
c.1795G>C (p.Ala599Pro)
c.1789G>C (p.Ala597Pro)
c.694G>C (p.Ala232Pro)
 dbSNP gnomAD v3 gnomAD v4
1g.9264255G=CA1152694295H6PDc.1762G= (p.Ala588=)
c.1795G= (p.Ala599=)
c.1789G= (p.Ala597=)
c.694G= (p.Ala232=)
1g.9264255G>TCA338193709H6PDc.1762G>T (p.Ala588Ser)
c.1795G>T (p.Ala599Ser)
c.1789G>T (p.Ala597Ser)
c.694G>T (p.Ala232Ser)
1g.9264256C>ACA338193712H6PDc.1763C>A (p.Ala588Glu)
c.1796C>A (p.Ala599Glu)
c.1790C>A (p.Ala597Glu)
c.695C>A (p.Ala232Glu)
1g.9264256C=CA1152694300H6PDc.1763C= (p.Ala588=)
c.1796C= (p.Ala599=)
c.1790C= (p.Ala597=)
c.695C= (p.Ala232=)
1g.9264256C>GCA338193710H6PDc.1763C>G (p.Ala588Gly)
c.1796C>G (p.Ala599Gly)
c.1790C>G (p.Ala597Gly)
c.695C>G (p.Ala232Gly)
1g.9264256C>TCA338193711H6PDc.1763C>T (p.Ala588Val)
c.1796C>T (p.Ala599Val)
c.1790C>T (p.Ala597Val)
c.695C>T (p.Ala232Val)
 dbSNP gnomAD v3 gnomAD v4
1g.9264257A=CA1145939257H6PDc.1764A= (p.Ala588=)
c.1797A= (p.Ala599=)
c.1791A= (p.Ala597=)
c.696A= (p.Ala232=)
1g.9264257A>CCA575405H6PDc.1764A>C (p.Ala588=)
c.1797A>C (p.Ala599=)
c.1791A>C (p.Ala597=)
c.696A>C (p.Ala232=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.9264257A>GCA416031832H6PDc.1764A>G (p.Ala588=)
c.1797A>G (p.Ala599=)
c.1791A>G (p.Ala597=)
c.696A>G (p.Ala232=)
1g.9264257A>TCA575406H6PDc.1764A>T (p.Ala588=)
c.1797A>T (p.Ala599=)
c.1791A>T (p.Ala597=)
c.696A>T (p.Ala232=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.9264258C>ACA338193713H6PDc.1765C>A (p.Leu589Met)
c.1798C>A (p.Leu600Met)
c.1792C>A (p.Leu598Met)
c.697C>A (p.Leu233Met)
 gnomAD v4
1g.9264258C=CA1152694311H6PDc.1765C= (p.Leu589=)
c.1798C= (p.Leu600=)
c.1792C= (p.Leu598=)
c.697C= (p.Leu233=)
1g.9264258C>GCA338193714H6PDc.1765C>G (p.Leu589Val)
c.1798C>G (p.Leu600Val)
c.1792C>G (p.Leu598Val)
c.697C>G (p.Leu233Val)
 dbSNP gnomAD v2 gnomAD v4
1g.9264258C>TCA17751409H6PDc.1765C>T (p.Leu589=)
c.1798C>T (p.Leu600=)
c.1792C>T (p.Leu598=)
c.697C>T (p.Leu233=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.9264259T>ACA338193717H6PDc.1766T>A (p.Leu589Gln)
c.1799T>A (p.Leu600Gln)
c.1793T>A (p.Leu598Gln)
c.698T>A (p.Leu233Gln)
1g.9264259T>CCA338193715H6PDc.1766T>C (p.Leu589Pro)
c.1799T>C (p.Leu600Pro)
c.1793T>C (p.Leu598Pro)
c.698T>C (p.Leu233Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.9264259T>GCA338193716H6PDc.1766T>G (p.Leu589Arg)
c.1799T>G (p.Leu600Arg)
c.1793T>G (p.Leu598Arg)
c.698T>G (p.Leu233Arg)
1g.9264259T=CA1152694319H6PDc.1766T= (p.Leu589=)
c.1799T= (p.Leu600=)
c.1793T= (p.Leu598=)
c.698T= (p.Leu233=)
1g.9264260G>ACA416031839H6PDc.1767G>A (p.Leu589=)
c.1800G>A (p.Leu600=)
c.1794G>A (p.Leu598=)
c.699G>A (p.Leu233=)
1g.9264260G>CCA416031838H6PDc.1767G>C (p.Leu589=)
c.1800G>C (p.Leu600=)
c.1794G>C (p.Leu598=)
c.699G>C (p.Leu233=)
 dbSNP
1g.9264260G=CA1152694324H6PDc.1767G= (p.Leu589=)
c.1800G= (p.Leu600=)
c.1794G= (p.Leu598=)
c.699G= (p.Leu233=)
1g.9264260G>TCA416031837H6PDc.1767G>T (p.Leu589=)
c.1800G>T (p.Leu600=)
c.1794G>T (p.Leu598=)
c.699G>T (p.Leu233=)

Number of alleles fetched