Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.28900866A=CA2215885361ATP2A1c.2050A= (p.Lys684=)
c.1675A= (p.Lys559=)
16g.28900866A>CCA7987157ATP2A1c.2050A>C (p.Lys684Gln)
c.1675A>C (p.Lys559Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28900866A>GCA395411486ATP2A1c.2050A>G (p.Lys684Glu)
c.1675A>G (p.Lys559Glu)
gnomAD v4
16g.28900866A>TCA395411487ATP2A1c.2050A>T (p.Lys684Ter)
c.1675A>T (p.Lys559Ter)
16g.28900867A>CCA395411488ATP2A1c.2051A>C (p.Lys684Thr)
c.1676A>C (p.Lys559Thr)
16g.28900867A>GCA395411489ATP2A1c.2051A>G (p.Lys684Arg)
c.1676A>G (p.Lys559Arg)
16g.28900867A>TCA395411490ATP2A1c.2051A>T (p.Lys684Met)
c.1676A>T (p.Lys559Met)
16g.28900868G>ACA494874264ATP2A1c.2052G>A (p.Lys684=)
c.1677G>A (p.Lys559=)
dbSNP gnomAD v2 gnomAD v4
16g.28900868G>CCA395411491ATP2A1c.2052G>C (p.Lys684Asn)
c.1677G>C (p.Lys559Asn)
16g.28900868G=CA2215885368ATP2A1c.2052G= (p.Lys684=)
c.1677G= (p.Lys559=)
16g.28900868G>TCA395411492ATP2A1c.2052G>T (p.Lys684Asn)
c.1677G>T (p.Lys559Asn)
16g.28900869T>ACA395411494ATP2A1c.2053T>A (p.Ser685Thr)
c.1678T>A (p.Ser560Thr)
16g.28900869T>CCA395411495ATP2A1c.2053T>C (p.Ser685Pro)
c.1678T>C (p.Ser560Pro)
16g.28900869T>GCA395411493ATP2A1c.2053T>G (p.Ser685Ala)
c.1678T>G (p.Ser560Ala)
16g.28900870C>ACA395411496ATP2A1c.2054C>A (p.Ser685Tyr)
c.1679C>A (p.Ser560Tyr)
16g.28900870C>GCA395411498ATP2A1c.2054C>G (p.Ser685Cys)
c.1679C>G (p.Ser560Cys)
gnomAD v4
16g.28900870C>TCA395411497ATP2A1c.2054C>T (p.Ser685Phe)
c.1679C>T (p.Ser560Phe)
COSMIC
16g.28900871delCA2632540102ATP2A1c.2055del (p.Lys686ArgfsTer15)
c.1680del (p.Lys561ArgfsTer15)
gnomAD v4
16g.28900871C>ACA494874265ATP2A1c.2055C>A (p.Ser685=)
c.1680C>A (p.Ser560=)
16g.28900871C=CA2215885374ATP2A1c.2055C= (p.Ser685=)
c.1680C= (p.Ser560=)
16g.28900871C>GCA494874266ATP2A1c.2055C>G (p.Ser685=)
c.1680C>G (p.Ser560=)
dbSNP
16g.28900871C>TCA494874267ATP2A1c.2055C>T (p.Ser685=)
c.1680C>T (p.Ser560=)
16g.28900872A=CA2215885407ATP2A1c.2056A= (p.Lys686=)
c.1681A= (p.Lys561=)
16g.28900872A>CCA395411499ATP2A1c.2056A>C (p.Lys686Gln)
c.1681A>C (p.Lys561Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28900872A>GCA395411501ATP2A1c.2056A>G (p.Lys686Glu)
c.1681A>G (p.Lys561Glu)
gnomAD v4
16g.28900872A>TCA395411500ATP2A1c.2056A>T (p.Lys686Ter)
c.1681A>T (p.Lys561Ter)
16g.28900872_28900873delCA2573152281ATP2A1c.2056_2057del (p.Lys686AspfsTer10)
c.1681_1682del (p.Lys561AspfsTer10)
ClinVar dbSNP
16g.28900873A>CCA395411502ATP2A1c.2057A>C (p.Lys686Thr)
c.1682A>C (p.Lys561Thr)
gnomAD v4
16g.28900873A>GCA395411503ATP2A1c.2057A>G (p.Lys686Arg)
c.1682A>G (p.Lys561Arg)
16g.28900873A>TCA395411504ATP2A1c.2057A>T (p.Lys686Met)
c.1682A>T (p.Lys561Met)
16g.28900874G>ACA494874268ATP2A1c.2058G>A (p.Lys686=)
c.1683G>A (p.Lys561=)
16g.28900874G>CCA395411505ATP2A1c.2058G>C (p.Lys686Asn)
c.1683G>C (p.Lys561Asn)
16g.28900874G>TCA395411506ATP2A1c.2058G>T (p.Lys686Asn)
c.1683G>T (p.Lys561Asn)
16g.28900875A=CA2215885413ATP2A1c.2059A= (p.Ile687=)
c.1684A= (p.Ile562=)
16g.28900875A>CCA395411507ATP2A1c.2059A>C (p.Ile687Leu)
c.1684A>C (p.Ile562Leu)
16g.28900875A>GCA395411508ATP2A1c.2059A>G (p.Ile687Val)
c.1684A>G (p.Ile562Val)
16g.28900875A>TCA395411509ATP2A1c.2059A>T (p.Ile687Phe)
c.1684A>T (p.Ile562Phe)
dbSNP
16g.28900876T>ACA395411510ATP2A1c.2060T>A (p.Ile687Asn)
c.1685T>A (p.Ile562Asn)
16g.28900876T>CCA7987158ATP2A1c.2060T>C (p.Ile687Thr)
c.1685T>C (p.Ile562Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28900876T>GCA395411511ATP2A1c.2060T>G (p.Ile687Ser)
c.1685T>G (p.Ile562Ser)
16g.28900876T=CA2215885421ATP2A1c.2060T= (p.Ile687=)
c.1685T= (p.Ile562=)
16g.28900877T>ACA494874269ATP2A1c.2061T>A (p.Ile687=)
c.1686T>A (p.Ile562=)
16g.28900877T>CCA494874270ATP2A1c.2061T>C (p.Ile687=)
c.1686T>C (p.Ile562=)
dbSNP gnomAD v2 gnomAD v4
16g.28900877T>GCA395411512ATP2A1c.2061T>G (p.Ile687Met)
c.1686T>G (p.Ile562Met)
16g.28900877T=CA2215885441ATP2A1c.2061T= (p.Ile687=)
c.1686T= (p.Ile562=)
16g.28900877_28900878delinsTGCA2215885444ATP2A1c.2061_2062delinsTG (p.Ile687=)
c.1686_1687delinsTG (p.Ile562=)
16g.28900878delCA919685943ATP2A1c.2062del (p.Val688TrpfsTer13)
c.1687del (p.Val563TrpfsTer13)
dbSNP
16g.28900878G>ACA395411515ATP2A1c.2062G>A (p.Val688Met)
c.1687G>A (p.Val563Met)
dbSNP
16g.28900878G>CCA395411513ATP2A1c.2062G>C (p.Val688Leu)
c.1687G>C (p.Val563Leu)
16g.28900878G=CA2215885455ATP2A1c.2062G= (p.Val688=)
c.1687G= (p.Val563=)
16g.28900878G>TCA395411514ATP2A1c.2062G>T (p.Val688Leu)
c.1687G>T (p.Val563Leu)
dbSNP gnomAD v3 gnomAD v4
16g.28900879T>ACA395411516ATP2A1c.2063T>A (p.Val688Glu)
c.1688T>A (p.Val563Glu)
16g.28900879T>CCA395411517ATP2A1c.2063T>C (p.Val688Ala)
c.1688T>C (p.Val563Ala)
16g.28900879T>GCA395411518ATP2A1c.2063T>G (p.Val688Gly)
c.1688T>G (p.Val563Gly)
16g.28900879_28900880delinsTGCA2215885458ATP2A1c.2063_2064delinsTG (p.Val688=)
c.1688_1689delinsTG (p.Val563=)
16g.28900880G>ACA494874271ATP2A1c.2064G>A (p.Val688=)
c.1689G>A (p.Val563=)
gnomAD v4
16g.28900880G>CCA494874272ATP2A1c.2064G>C (p.Val688=)
c.1689G>C (p.Val563=)
16g.28900880G>TCA494874273ATP2A1c.2064G>T (p.Val688=)
c.1689G>T (p.Val563=)
16g.28900881delCA7987159ATP2A1c.2065del (p.Glu689SerfsTer12)
c.1690del (p.Glu564SerfsTer12)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.28900881G>ACA395411519ATP2A1c.2065G>A (p.Glu689Lys)
c.1690G>A (p.Glu564Lys)
16g.28900881G>CCA395411520ATP2A1c.2065G>C (p.Glu689Gln)
c.1690G>C (p.Glu564Gln)
16g.28900881G>TCA395411521ATP2A1c.2065G>T (p.Glu689Ter)
c.1690G>T (p.Glu564Ter)
16g.28900882A>CCA395411522ATP2A1c.2066A>C (p.Glu689Ala)
c.1691A>C (p.Glu564Ala)
16g.28900882A>GCA395411523ATP2A1c.2066A>G (p.Glu689Gly)
c.1691A>G (p.Glu564Gly)
16g.28900882A>TCA395411524ATP2A1c.2066A>T (p.Glu689Val)
c.1691A>T (p.Glu564Val)
16g.28900883G>ACA494874274ATP2A1c.2067G>A (p.Glu689=)
c.1692G>A (p.Glu564=)
16g.28900883G>CCA395411525ATP2A1c.2067G>C (p.Glu689Asp)
c.1692G>C (p.Glu564Asp)
16g.28900883G>TCA395411526ATP2A1c.2067G>T (p.Glu689Asp)
c.1692G>T (p.Glu564Asp)
16g.28900884T>ACA395411527ATP2A1c.2068T>A (p.Tyr690Asn)
c.1693T>A (p.Tyr565Asn)
dbSNP
16g.28900884T>CCA395411528ATP2A1c.2068T>C (p.Tyr690His)
c.1693T>C (p.Tyr565His)
16g.28900884T>GCA395411529ATP2A1c.2068T>G (p.Tyr690Asp)
c.1693T>G (p.Tyr565Asp)
16g.28900884T=CA2215885459ATP2A1c.2068T= (p.Tyr690=)
c.1693T= (p.Tyr565=)
16g.28900885A=CA2215885460ATP2A1c.2069A= (p.Tyr690=)
c.1694A= (p.Tyr565=)
16g.28900885A>CCA395411530ATP2A1c.2069A>C (p.Tyr690Ser)
c.1694A>C (p.Tyr565Ser)
16g.28900885A>GCA395411531ATP2A1c.2069A>G (p.Tyr690Cys)
c.1694A>G (p.Tyr565Cys)
gnomAD v4
16g.28900885A>TCA395411532ATP2A1c.2069A>T (p.Tyr690Phe)
c.1694A>T (p.Tyr565Phe)
dbSNP
16g.28900886C>ACA395411533ATP2A1c.2070C>A (p.Tyr690Ter)
c.1695C>A (p.Tyr565Ter)
16g.28900886C=CA2215885461ATP2A1c.2070C= (p.Tyr690=)
c.1695C= (p.Tyr565=)
16g.28900886C>GCA395411534ATP2A1c.2070C>G (p.Tyr690Ter)
c.1695C>G (p.Tyr565Ter)
16g.28900886C>TCA494874275ATP2A1c.2070C>T (p.Tyr690=)
c.1695C>T (p.Tyr565=)
dbSNP gnomAD v4
16g.28900887C>ACA395411535ATP2A1c.2071C>A (p.Leu691Met)
c.1696C>A (p.Leu566Met)
16g.28900887C=CA2215885462ATP2A1c.2071C= (p.Leu691=)
c.1696C= (p.Leu566=)
16g.28900887C>GCA395411536ATP2A1c.2071C>G (p.Leu691Val)
c.1696C>G (p.Leu566Val)
16g.28900887C>TCA494874276ATP2A1c.2071C>T (p.Leu691=)
c.1696C>T (p.Leu566=)
dbSNP
16g.28900888T>ACA395411537ATP2A1c.2072T>A (p.Leu691Gln)
c.1697T>A (p.Leu566Gln)
16g.28900888T>CCA395411538ATP2A1c.2072T>C (p.Leu691Pro)
c.1697T>C (p.Leu566Pro)
16g.28900888T>GCA395411539ATP2A1c.2072T>G (p.Leu691Arg)
c.1697T>G (p.Leu566Arg)
16g.28900889G>ACA494874277ATP2A1c.2073G>A (p.Leu691=)
c.1698G>A (p.Leu566=)
ClinVar dbSNP
16g.28900889G>CCA494874278ATP2A1c.2073G>C (p.Leu691=)
c.1698G>C (p.Leu566=)
16g.28900889G=CA2215885463ATP2A1c.2073G= (p.Leu691=)
c.1698G= (p.Leu566=)
16g.28900889G>TCA494874279ATP2A1c.2073G>T (p.Leu691=)
c.1698G>T (p.Leu566=)
16g.28900890C>ACA395411542ATP2A1c.2074C>A (p.Gln692Lys)
c.1699C>A (p.Gln567Lys)
16g.28900890C>GCA395411540ATP2A1c.2074C>G (p.Gln692Glu)
c.1699C>G (p.Gln567Glu)
16g.28900890C>TCA395411541ATP2A1c.2074C>T (p.Gln692Ter)
c.1699C>T (p.Gln567Ter)
16g.28900891A=CA2215885464ATP2A1c.2075A= (p.Gln692=)
c.1700A= (p.Gln567=)
16g.28900891A>CCA395411543ATP2A1c.2075A>C (p.Gln692Pro)
c.1700A>C (p.Gln567Pro)
16g.28900891A>GCA395411544ATP2A1c.2075A>G (p.Gln692Arg)
c.1700A>G (p.Gln567Arg)
ClinVar dbSNP gnomAD v2
16g.28900891A>TCA395411545ATP2A1c.2075A>T (p.Gln692Leu)
c.1700A>T (p.Gln567Leu)
16g.28900892G>ACA494874280ATP2A1c.2076G>A (p.Gln692=)
c.1701G>A (p.Gln567=)
16g.28900892G>CCA395411546ATP2A1c.2076G>C (p.Gln692His)
c.1701G>C (p.Gln567His)
16g.28900892G>TCA395411547ATP2A1c.2076G>T (p.Gln692His)
c.1701G>T (p.Gln567His)
16g.28900893T>ACA395411548ATP2A1c.2077T>A (p.Ser693Thr)
c.1702T>A (p.Ser568Thr)
16g.28900893T>CCA395411549ATP2A1c.2077T>C (p.Ser693Pro)
c.1702T>C (p.Ser568Pro)
16g.28900893T>GCA7987160ATP2A1c.2077T>G (p.Ser693Ala)
c.1702T>G (p.Ser568Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28900893T=CA2215885465ATP2A1c.2077T= (p.Ser693=)
c.1702T= (p.Ser568=)
16g.28900894C>ACA395411550ATP2A1c.2078C>A (p.Ser693Tyr)
c.1703C>A (p.Ser568Tyr)
gnomAD v4
16g.28900894C>GCA395411551ATP2A1c.2078C>G (p.Ser693Cys)
c.1703C>G (p.Ser568Cys)
16g.28900894C>TCA395411552ATP2A1c.2078C>T (p.Ser693Phe)
c.1703C>T (p.Ser568Phe)
16g.28900895C>ACA494874281ATP2A1c.2079C>A (p.Ser693=)
c.1704C>A (p.Ser568=)
16g.28900895C>GCA494874282ATP2A1c.2079C>G (p.Ser693=)
c.1704C>G (p.Ser568=)
16g.28900895C>TCA494874283ATP2A1c.2079C>T (p.Ser693=)
c.1704C>T (p.Ser568=)
gnomAD v4
16g.28900896T>ACA395411555ATP2A1c.2080T>A (p.Tyr694Asn)
c.1705T>A (p.Tyr569Asn)
16g.28900896T>CCA395411554ATP2A1c.2080T>C (p.Tyr694His)
c.1705T>C (p.Tyr569His)
16g.28900896T>GCA395411553ATP2A1c.2080T>G (p.Tyr694Asp)
c.1705T>G (p.Tyr569Asp)
16g.28900897A=CA2215885466ATP2A1c.2081A= (p.Tyr694=)
c.1706A= (p.Tyr569=)
16g.28900897A>CCA395411556ATP2A1c.2081A>C (p.Tyr694Ser)
c.1706A>C (p.Tyr569Ser)
16g.28900897A>GCA395411558ATP2A1c.2081A>G (p.Tyr694Cys)
c.1706A>G (p.Tyr569Cys)
dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.28900897A>TCA395411557ATP2A1c.2081A>T (p.Tyr694Phe)
c.1706A>T (p.Tyr569Phe)
16g.28900898C>ACA395411559ATP2A1c.2082C>A (p.Tyr694Ter)
c.1707C>A (p.Tyr569Ter)
dbSNP gnomAD v3 gnomAD v4
16g.28900898C=CA2215885467ATP2A1c.2082C= (p.Tyr694=)
c.1707C= (p.Tyr569=)
16g.28900898C>GCA395411560ATP2A1c.2082C>G (p.Tyr694Ter)
c.1707C>G (p.Tyr569Ter)
16g.28900898C>TCA7987161ATP2A1c.2082C>T (p.Tyr694=)
c.1707C>T (p.Tyr569=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28900899G>ACA279240525ATP2A1c.2083G>A (p.Asp695Asn)
c.1708G>A (p.Asp570Asn)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28900899G>CCA395411561ATP2A1c.2083G>C (p.Asp695His)
c.1708G>C (p.Asp570His)
16g.28900899G=CA2215885468ATP2A1c.2083G= (p.Asp695=)
c.1708G= (p.Asp570=)
16g.28900899G>TCA395411562ATP2A1c.2083G>T (p.Asp695Tyr)
c.1708G>T (p.Asp570Tyr)
16g.28900900A>CCA395411563ATP2A1c.2084A>C (p.Asp695Ala)
c.1709A>C (p.Asp570Ala)
16g.28900900A>GCA395411564ATP2A1c.2084A>G (p.Asp695Gly)
c.1709A>G (p.Asp570Gly)
16g.28900900A>TCA395411565ATP2A1c.2084A>T (p.Asp695Val)
c.1709A>T (p.Asp570Val)
16g.28900901T>ACA395411566ATP2A1c.2085T>A (p.Asp695Glu)
c.1710T>A (p.Asp570Glu)
16g.28900901T>CCA494874284ATP2A1c.2085T>C (p.Asp695=)
c.1710T>C (p.Asp570=)
16g.28900901T>GCA395411567ATP2A1c.2085T>G (p.Asp695Glu)
c.1710T>G (p.Asp570Glu)
gnomAD v4
16g.28900902G>ACA395411570ATP2A1c.2086G>A (p.Glu696Lys)
c.1711G>A (p.Glu571Lys)
gnomAD v4
16g.28900902G>CCA395411569ATP2A1c.2086G>C (p.Glu696Gln)
c.1711G>C (p.Glu571Gln)
16g.28900902G>TCA395411568ATP2A1c.2086G>T (p.Glu696Ter)
c.1711G>T (p.Glu571Ter)
16g.28900903A>CCA395411571ATP2A1c.2087A>C (p.Glu696Ala)
c.1712A>C (p.Glu571Ala)
16g.28900903A>GCA395411572ATP2A1c.2087A>G (p.Glu696Gly)
c.1712A>G (p.Glu571Gly)
16g.28900903A>TCA395411573ATP2A1c.2087A>T (p.Glu696Val)
c.1712A>T (p.Glu571Val)
16g.28900904G>ACA279240526ATP2A1c.2088G>A (p.Glu696=)
c.1713G>A (p.Glu571=)
dbSNP
16g.28900904G>CCA395411574ATP2A1c.2088G>C (p.Glu696Asp)
c.1713G>C (p.Glu571Asp)
16g.28900904G=CA2215885469ATP2A1c.2088G= (p.Glu696=)
c.1713G= (p.Glu571=)
16g.28900904G>TCA395411575ATP2A1c.2088G>T (p.Glu696Asp)
c.1713G>T (p.Glu571Asp)
16g.28900905A>CCA395411576ATP2A1c.2089A>C (p.Ile697Leu)
c.1714A>C (p.Ile572Leu)
COSMIC
16g.28900905A>GCA395411577ATP2A1c.2089A>G (p.Ile697Val)
c.1714A>G (p.Ile572Val)
ClinVar
16g.28900905A>TCA395411578ATP2A1c.2089A>T (p.Ile697Phe)
c.1714A>T (p.Ile572Phe)
16g.28900906T>ACA395411579ATP2A1c.2090T>A (p.Ile697Asn)
c.1715T>A (p.Ile572Asn)
16g.28900906T>CCA395411581ATP2A1c.2090T>C (p.Ile697Thr)
c.1715T>C (p.Ile572Thr)
16g.28900906T>GCA395411584ATP2A1c.2090T>G (p.Ile697Ser)
c.1715T>G (p.Ile572Ser)
16g.28900907C>ACA494874285ATP2A1c.2091C>A (p.Ile697=)
c.1716C>A (p.Ile572=)
16g.28900907C=CA2215885472ATP2A1c.2091C= (p.Ile697=)
c.1716C= (p.Ile572=)
16g.28900907C>GCA10643416ATP2A1c.2091C>G (p.Ile697Met)
c.1716C>G (p.Ile572Met)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.28900907C>TCA494874286ATP2A1c.2091C>T (p.Ile697=)
c.1716C>T (p.Ile572=)
dbSNP gnomAD v2 gnomAD v4
16g.28900908A>CCA395411589ATP2A1c.2092A>C (p.Thr698Pro)
c.1717A>C (p.Thr573Pro)
gnomAD v4
16g.28900908A>GCA395411588ATP2A1c.2092A>G (p.Thr698Ala)
c.1717A>G (p.Thr573Ala)
gnomAD v4
16g.28900908A>TCA395411586ATP2A1c.2092A>T (p.Thr698Ser)
c.1717A>T (p.Thr573Ser)
16g.28900909C>ACA395411591ATP2A1c.2093C>A (p.Thr698Lys)
c.1718C>A (p.Thr573Lys)
16g.28900909C>GCA395411593ATP2A1c.2093C>G (p.Thr698Arg)
c.1718C>G (p.Thr573Arg)
16g.28900909C>TCA395411595ATP2A1c.2093C>T (p.Thr698Ile)
c.1718C>T (p.Thr573Ile)
16g.28900910A>CCA494874287ATP2A1c.2094A>C (p.Thr698=)
c.1719A>C (p.Thr573=)
16g.28900910A>GCA494874288ATP2A1c.2094A>G (p.Thr698=)
c.1719A>G (p.Thr573=)
gnomAD v4
16g.28900910A>TCA494874289ATP2A1c.2094A>T (p.Thr698=)
c.1719A>T (p.Thr573=)
16g.28900911G>ACA395411597ATP2A1c.2095G>A (p.Ala699Thr)
c.1720G>A (p.Ala574Thr)
16g.28900911G>CCA395411599ATP2A1c.2095G>C (p.Ala699Pro)
c.1720G>C (p.Ala574Pro)
16g.28900911G>TCA395411601ATP2A1c.2095G>T (p.Ala699Ser)
c.1720G>T (p.Ala574Ser)
gnomAD v4
16g.28900912C>ACA395411604ATP2A1c.2096C>A (p.Ala699Asp)
c.1721C>A (p.Ala574Asp)
16g.28900912C>GCA395411606ATP2A1c.2096C>G (p.Ala699Gly)
c.1721C>G (p.Ala574Gly)
16g.28900912C>TCA395411608ATP2A1c.2096C>T (p.Ala699Val)
c.1721C>T (p.Ala574Val)
16g.28900913C>ACA494874290ATP2A1c.2097C>A (p.Ala699=)
c.1722C>A (p.Ala574=)
16g.28900913C>GCA494874292ATP2A1c.2097C>G (p.Ala699=)
c.1722C>G (p.Ala574=)
16g.28900913C>TCA494874291ATP2A1c.2097C>T (p.Ala699=)
c.1722C>T (p.Ala574=)
16g.28900914A=CA2215885479ATP2A1c.2098A= (p.Met700=)
c.1723A= (p.Met575=)
16g.28900914A>CCA395411610ATP2A1c.2098A>C (p.Met700Leu)
c.1723A>C (p.Met575Leu)
16g.28900914A>GCA7987162ATP2A1c.2098A>G (p.Met700Val)
c.1723A>G (p.Met575Val)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.28900914A>TCA395411612ATP2A1c.2098A>T (p.Met700Leu)
c.1723A>T (p.Met575Leu)
16g.28900915T>ACA395411618ATP2A1c.2099T>A (p.Met700Lys)
c.1724T>A (p.Met575Lys)
16g.28900915T>CCA395411617ATP2A1c.2099T>C (p.Met700Thr)
c.1724T>C (p.Met575Thr)
gnomAD v4
16g.28900915T>GCA395411615ATP2A1c.2099T>G (p.Met700Arg)
c.1724T>G (p.Met575Arg)
16g.28900916G>ACA395411621ATP2A1c.2100G>A (p.Met700Ile)
c.1725G>A (p.Met575Ile)
dbSNP gnomAD v2 gnomAD v4
16g.28900916G>CCA395411622ATP2A1c.2100G>C (p.Met700Ile)
c.1725G>C (p.Met575Ile)
16g.28900916G=CA2215885482ATP2A1c.2100G= (p.Met700=)
c.1725G= (p.Met575=)
16g.28900916G>TCA395411625ATP2A1c.2100G>T (p.Met700Ile)
c.1725G>T (p.Met575Ile)
16g.28900917G>ACA395411627ATP2A1c.2100+1G>A (n.2100+1G>A)
c.1725+1G>A (n.1725+1G>A)
gnomAD v4
16g.28900917G>CCA395411628ATP2A1c.2100+1G>C (n.2100+1G>C)
c.1725+1G>C (n.1725+1G>C)
dbSNP gnomAD v3 gnomAD v4
16g.28900917G=CA2215885488ATP2A1c.2100+1G= (n.2100+1G=)
c.1725+1G= (n.1725+1G=)
16g.28900917G>TCA395411631ATP2A1c.2100+1G>T (n.2100+1G>T)
c.1725+1G>T (n.1725+1G>T)
16g.28900918T>ACA395411632ATP2A1c.2100+2T>A (n.2100+2T>A)
c.1725+2T>A (n.1725+2T>A)
16g.28900918T>CCA395411633ATP2A1c.2100+2T>C (n.2100+2T>C)
c.1725+2T>C (n.1725+2T>C)
16g.28900918T>GCA395411635ATP2A1c.2100+2T>G (n.2100+2T>G)
c.1725+2T>G (n.1725+2T>G)
16g.28900920A=CA2215885492ATP2A1c.2100+4A= (n.2100+4A=)
c.1725+4A= (n.1725+4A=)
16g.28900920A>CCA976148062ATP2A1c.2100+4A>C (n.2100+4A>C)
c.1725+4A>C (n.1725+4A>C)
dbSNP gnomAD v3 gnomAD v4
16g.28900925delCA2575960522ATP2A1c.2100+9del (n.2100+9del)
c.1725+9del (n.1725+9del)
16g.28900925G>ACA7987163ATP2A1c.2100+9G>A (n.2100+9G>A)
c.1725+9G>A (n.1725+9G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.28900925G>CCA2731885701ATP2A1c.2100+9G>C (n.2100+9G>C)
c.1725+9G>C (n.1725+9G>C)
dbSNP
16g.28900925G=CA2215885495ATP2A1c.2100+9G= (n.2100+9G=)
c.1725+9G= (n.1725+9G=)
16g.28900926C>TCA2632540142ATP2A1c.2100+10C>T (n.2100+10C>T)
c.1725+10C>T (n.1725+10C>T)
gnomAD v4
16g.28900928dupCA2632540143ATP2A1c.2100+12dup (n.2100+12dup)
c.1725+12dup (n.1725+12dup)
gnomAD v4
16g.28900928C>ACA2573152282ATP2A1c.2100+12C>A (n.2100+12C>A)
c.1725+12C>A (n.1725+12C>A)
ClinVar dbSNP
16g.28900928C>TCA2632540144ATP2A1c.2100+12C>T (n.2100+12C>T)
c.1725+12C>T (n.1725+12C>T)
gnomAD v4
16g.28900929A=CA2215885503ATP2A1c.2100+13A= (n.2100+13A=)
c.1725+13A= (n.1725+13A=)
16g.28900929A>GCA2215885506ATP2A1c.2100+13A>G (n.2100+13A>G)
c.1725+13A>G (n.1725+13A>G)
dbSNP
16g.28900929_28900930delinsAGCA2215885499ATP2A1c.2100+13_2100+14delinsAG (n.2100+13_2100+14delinsAG)
c.1725+13_1725+14delinsAG (n.1725+13_1725+14delinsAG)
16g.28900930G>ACA7987165ATP2A1c.2100+14G>A (n.2100+14G>A)
c.1725+14G>A (n.1725+14G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.28900930G=CA2215885511ATP2A1c.2100+14G= (n.2100+14G=)
c.1725+14G= (n.1725+14G=)
16g.28900931delCA7987164ATP2A1c.2100+15del (n.2100+15del)
c.1725+15del (n.1725+15del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28900930_28900935delCA2632540148ATP2A1c.2100+14_2100+19del (n.2100+14_2100+19del)
c.1725+14_1725+19del (n.1725+14_1725+19del)
gnomAD v4
16g.28900931G>ACA2215885515ATP2A1c.2100+15G>A (n.2100+15G>A)
c.1725+15G>A (n.1725+15G>A)
dbSNP
16g.28900931G=CA2215885512ATP2A1c.2100+15G= (n.2100+15G=)
c.1725+15G= (n.1725+15G=)
16g.28900932C>ACA7987166ATP2A1c.2100+16C>A (n.2100+16C>A)
c.1725+16C>A (n.1725+16C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28900932C=CA2215885517ATP2A1c.2100+16C= (n.2100+16C=)
c.1725+16C= (n.1725+16C=)
16g.28900933A>CCA2632540152ATP2A1c.2100+17A>C (n.2100+17A>C)
c.1725+17A>C (n.1725+17A>C)
gnomAD v4
16g.28900934G>ACA2632540153ATP2A1c.2100+18G>A (n.2100+18G>A)
c.1725+18G>A (n.1725+18G>A)
gnomAD v4
16g.28900936T>CCA2632540156ATP2A1c.2100+20T>C (n.2100+20T>C)
c.1725+20T>C (n.1725+20T>C)
gnomAD v4
16g.28900937G>ACA622162496ATP2A1c.2100+21G>A (n.2100+21G>A)
c.1725+21G>A (n.1725+21G>A)
dbSNP gnomAD v2
16g.28900937G=CA2215885519ATP2A1c.2100+21G= (n.2100+21G=)
c.1725+21G= (n.1725+21G=)
16g.28900937_28900941delCA2632540157ATP2A1c.2100+21_2100+25del (n.2100+21_2100+25del)
c.1725+21_1725+25del (n.1725+21_1725+25del)
gnomAD v4
16g.28900938C=CA2215885523ATP2A1c.2100+22C= (n.2100+22C=)
c.1725+22C= (n.1725+22C=)
16g.28900938C>TCA7987167ATP2A1c.2100+22C>T (n.2100+22C>T)
c.1725+22C>T (n.1725+22C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.28900939A=CA2215885526ATP2A1c.2100+23A= (n.2100+23A=)
c.1725+23A= (n.1725+23A=)
16g.28900939A>CCA2215885527ATP2A1c.2100+23A>C (n.2100+23A>C)
c.1725+23A>C (n.1725+23A>C)
dbSNP gnomAD v3 gnomAD v4
16g.28900939A>GCA2632540159ATP2A1c.2100+23A>G (n.2100+23A>G)
c.1725+23A>G (n.1725+23A>G)
gnomAD v4
16g.28900942C=CA2215885530ATP2A1c.2100+26C= (n.2100+26C=)
c.1725+26C= (n.1725+26C=)
16g.28900942C>GCA2575960523ATP2A1c.2100+26C>G (n.2100+26C>G)
c.1725+26C>G (n.1725+26C>G)
gnomAD v4
16g.28900942C>TCA622162497ATP2A1c.2100+26C>T (n.2100+26C>T)
c.1725+26C>T (n.1725+26C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.28900943T>ACA2632540163ATP2A1c.2100+27T>A (n.2100+27T>A)
c.1725+27T>A (n.1725+27T>A)
gnomAD v4
16g.28900943T>CCA2632540164ATP2A1c.2100+27T>C (n.2100+27T>C)
c.1725+27T>C (n.1725+27T>C)
gnomAD v4
16g.28900945A=CA2215885536ATP2A1c.2100+29A= (n.2100+29A=)
c.1725+29A= (n.1725+29A=)
16g.28900945A>CCA976148071ATP2A1c.2100+29A>C (n.2100+29A>C)
c.1725+29A>C (n.1725+29A>C)
dbSNP gnomAD v3 gnomAD v4
16g.28900945_28900947delinsAGTCA2215885539ATP2A1c.2100+29_2100+31delinsAGT (n.2100+29_2100+31delinsAGT)
c.1725+29_1725+31delinsAGT (n.1725+29_1725+31delinsAGT)
16g.28900948_28900949delCA2215885544ATP2A1c.2100+32_2100+33del (n.2100+32_2100+33del)
c.1725+32_1725+33del (n.1725+32_1725+33del)
dbSNP
16g.28900947T>ACA2215885549ATP2A1c.2100+31T>A (n.2100+31T>A)
c.1725+31T>A (n.1725+31T>A)
dbSNP
16g.28900947T>CCA7987168ATP2A1c.2100+31T>C (n.2100+31T>C)
c.1725+31T>C (n.1725+31T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28900947T=CA2215885547ATP2A1c.2100+31T= (n.2100+31T=)
c.1725+31T= (n.1725+31T=)
16g.28900949T>CCA279240579ATP2A1c.2100+33T>C (n.2100+33T>C)
c.1725+33T>C (n.1725+33T>C)
dbSNP
16g.28900949T=CA2215885559ATP2A1c.2100+33T= (n.2100+33T=)
c.1725+33T= (n.1725+33T=)
16g.28900949_28900950delinsTCCA2215885557ATP2A1c.2100+33_2100+34delinsTC (n.2100+33_2100+34delinsTC)
c.1725+33_1725+34delinsTC (n.1725+33_1725+34delinsTC)
16g.28900950C>TCA2575960524ATP2A1c.2100+34C>T (n.2100+34C>T)
c.1725+34C>T (n.1725+34C>T)
16g.28900951delCA7987169ATP2A1c.2100+35del (n.2100+35del)
c.1725+35del (n.1725+35del)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.28900953C=CA2215885569ATP2A1c.2100+37C= (n.2100+37C=)
c.1725+37C= (n.1725+37C=)
16g.28900953C>TCA7987170ATP2A1c.2100+37C>T (n.2100+37C>T)
c.1725+37C>T (n.1725+37C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28900954G>ACA7987171ATP2A1c.2100+38G>A (n.2100+38G>A)
c.1725+38G>A (n.1725+38G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28900954G=CA2215885572ATP2A1c.2100+38G= (n.2100+38G=)
c.1725+38G= (n.1725+38G=)
16g.28900955G>ACA622162498ATP2A1c.2100+39G>A (n.2100+39G>A)
c.1725+39G>A (n.1725+39G>A)
dbSNP gnomAD v2 gnomAD v4
16g.28900955G=CA2215885578ATP2A1c.2100+39G= (n.2100+39G=)
c.1725+39G= (n.1725+39G=)
16g.28900957G>ACA976148084ATP2A1c.2100+41G>A (n.2100+41G>A)
c.1725+41G>A (n.1725+41G>A)
dbSNP gnomAD v3 gnomAD v4
16g.28900957G=CA2215885580ATP2A1c.2100+41G= (n.2100+41G=)
c.1725+41G= (n.1725+41G=)
16g.28900958A=CA2215885583ATP2A1c.2100+42A= (n.2100+42A=)
c.1725+42A= (n.1725+42A=)
16g.28900958A>GCA976148085ATP2A1c.2100+42A>G (n.2100+42A>G)
c.1725+42A>G (n.1725+42A>G)
dbSNP gnomAD v3 gnomAD v4
16g.28900959T>ACA2806424057ATP2A1c.2100+43T>A (n.2100+43T>A)
c.1725+43T>A (n.1725+43T>A)
16g.28900959T>GCA2632540185ATP2A1c.2100+43T>G (n.2100+43T>G)
c.1725+43T>G (n.1725+43T>G)
gnomAD v4
16g.28900960G>ACA2632540188ATP2A1c.2100+44G>A (n.2100+44G>A)
c.1725+44G>A (n.1725+44G>A)
gnomAD v4
16g.28900961A>GCA2632540189ATP2A1c.2100+45A>G (n.2100+45A>G)
c.1725+45A>G (n.1725+45A>G)
gnomAD v4
16g.28900962C=CA2215885585ATP2A1c.2100+46C= (n.2100+46C=)
c.1725+46C= (n.1725+46C=)
16g.28900962C>TCA7987172ATP2A1c.2100+46C>T (n.2100+46C>T)
c.1725+46C>T (n.1725+46C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.28900964A>GCA2593660195ATP2A1c.2100+48A>G (n.2100+48A>G)
c.1725+48A>G (n.1725+48A>G)
gnomAD v3 gnomAD v4
16g.28900965G>ACA279240600ATP2A1c.2100+49G>A (n.2100+49G>A)
c.1725+49G>A (n.1725+49G>A)
dbSNP gnomAD v3 gnomAD v4
16g.28900965G=CA2215885588ATP2A1c.2100+49G= (n.2100+49G=)
c.1725+49G= (n.1725+49G=)
16g.28900966A>CCA2632540194ATP2A1c.2100+50A>C (n.2100+50A>C)
c.1725+50A>C (n.1725+50A>C)
gnomAD v4

Number of alleles fetched