Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.57674898T>ACA402560933ATP8B1c.1755A>T (p.Glu585Asp)
c.1620A>T
c.1641A>T (p.Glu547Asp)
c.1035A>T (p.Glu345Asp)
c.1605A>T (p.Glu535Asp)
18g.57674898T>CCA504021215ATP8B1c.1755A>G (p.Glu585=)
c.1620A>G
c.1641A>G (p.Glu547=)
c.1035A>G (p.Glu345=)
c.1605A>G (p.Glu535=)
18g.57674898T>GCA402560939ATP8B1c.1755A>C (p.Glu585Asp)
c.1620A>C
c.1641A>C (p.Glu547Asp)
c.1035A>C (p.Glu345Asp)
c.1605A>C (p.Glu535Asp)
18g.57674899T>ACA402560942ATP8B1c.1754A>T (p.Glu585Val)
c.1619A>T
c.1640A>T (p.Glu547Val)
c.1034A>T (p.Glu345Val)
c.1604A>T (p.Glu535Val)
18g.57674899T>CCA8974485ATP8B1c.1754A>G (p.Glu585Gly)
c.1619A>G
c.1640A>G (p.Glu547Gly)
c.1034A>G (p.Glu345Gly)
c.1604A>G (p.Glu535Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.57674899T>GCA402560944ATP8B1c.1754A>C (p.Glu585Ala)
c.1619A>C
c.1640A>C (p.Glu547Ala)
c.1034A>C (p.Glu345Ala)
c.1604A>C (p.Glu535Ala)
18g.57674899T=CA2306103160ATP8B1c.1754A= (p.Glu585=)
c.1619A=
c.1640A= (p.Glu547=)
c.1034A= (p.Glu345=)
c.1604A= (p.Glu535=)
18g.57674900C>ACA402560950ATP8B1c.1753G>T (p.Glu585Ter)
c.1618G>T
c.1639G>T (p.Glu547Ter)
c.1033G>T (p.Glu345Ter)
c.1603G>T (p.Glu535Ter)
 dbSNP
18g.57674900C=CA2306103161ATP8B1c.1753G= (p.Glu585=)
c.1618G=
c.1639G= (p.Glu547=)
c.1033G= (p.Glu345=)
c.1603G= (p.Glu535=)
18g.57674900C>GCA402560952ATP8B1c.1753G>C (p.Glu585Gln)
c.1618G>C
c.1639G>C (p.Glu547Gln)
c.1033G>C (p.Glu345Gln)
c.1603G>C (p.Glu535Gln)
18g.57674900C>TCA402560960ATP8B1c.1753G>A (p.Glu585Lys)
c.1618G>A
c.1639G>A (p.Glu547Lys)
c.1033G>A (p.Glu345Lys)
c.1603G>A (p.Glu535Lys)
18g.57674901A=CA2306103162ATP8B1c.1752T= (p.Thr584=)
c.1617T=
c.1638T= (p.Thr546=)
c.1032T= (p.Thr344=)
c.1602T= (p.Thr534=)
18g.57674901A>CCA504021217ATP8B1c.1752T>G (p.Thr584=)
c.1617T>G
c.1638T>G (p.Thr546=)
c.1032T>G (p.Thr344=)
c.1602T>G (p.Thr534=)
18g.57674901A>GCA8974486ATP8B1c.1752T>C (p.Thr584=)
c.1617T>C
c.1638T>C (p.Thr546=)
c.1032T>C (p.Thr344=)
c.1602T>C (p.Thr534=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.57674901A>TCA504021218ATP8B1c.1752T>A (p.Thr584=)
c.1617T>A
c.1638T>A (p.Thr546=)
c.1032T>A (p.Thr344=)
c.1602T>A (p.Thr534=)
18g.57674902G>ACA8974487ATP8B1c.1751C>T (p.Thr584Ile)
c.1616C>T
c.1637C>T (p.Thr546Ile)
c.1031C>T (p.Thr344Ile)
c.1601C>T (p.Thr534Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.57674902G>CCA402560967ATP8B1c.1751C>G (p.Thr584Ser)
c.1616C>G
c.1637C>G (p.Thr546Ser)
c.1031C>G (p.Thr344Ser)
c.1601C>G (p.Thr534Ser)
18g.57674902G=CA2306103163ATP8B1c.1751C= (p.Thr584=)
c.1616C=
c.1637C= (p.Thr546=)
c.1031C= (p.Thr344=)
c.1601C= (p.Thr534=)
18g.57674902G>TCA402560970ATP8B1c.1751C>A (p.Thr584Asn)
c.1616C>A
c.1637C>A (p.Thr546Asn)
c.1031C>A (p.Thr344Asn)
c.1601C>A (p.Thr534Asn)
18g.57674903T>ACA8974488ATP8B1c.1750A>T (p.Thr584Ser)
c.1615A>T
c.1636A>T (p.Thr546Ser)
c.1030A>T (p.Thr344Ser)
c.1600A>T (p.Thr534Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.57674903T>CCA402560978ATP8B1c.1750A>G (p.Thr584Ala)
c.1615A>G
c.1636A>G (p.Thr546Ala)
c.1030A>G (p.Thr344Ala)
c.1600A>G (p.Thr534Ala)
18g.57674903T>GCA402560982ATP8B1c.1750A>C (p.Thr584Pro)
c.1615A>C
c.1636A>C (p.Thr546Pro)
c.1030A>C (p.Thr344Pro)
c.1600A>C (p.Thr534Pro)
18g.57674903T=CA2306103164ATP8B1c.1750A= (p.Thr584=)
c.1615A=
c.1636A= (p.Thr546=)
c.1030A= (p.Thr344=)
c.1600A= (p.Thr534=)
18g.57674904G>ACA504021219ATP8B1c.1749C>T (p.Gly583=)
c.1614C>T
c.1635C>T (p.Gly545=)
c.1029C>T (p.Gly343=)
c.1599C>T (p.Gly533=)
 gnomAD v4
18g.57674904G>CCA504021220ATP8B1c.1749C>G (p.Gly583=)
c.1614C>G
c.1635C>G (p.Gly545=)
c.1029C>G (p.Gly343=)
c.1599C>G (p.Gly533=)
18g.57674904G>TCA504021221ATP8B1c.1749C>A (p.Gly583=)
c.1614C>A
c.1635C>A (p.Gly545=)
c.1029C>A (p.Gly343=)
c.1599C>A (p.Gly533=)
18g.57674905C>ACA402560986ATP8B1c.1748G>T (p.Gly583Val)
c.1613G>T
c.1634G>T (p.Gly545Val)
c.1028G>T (p.Gly343Val)
c.1598G>T (p.Gly533Val)
18g.57674905C>GCA402560988ATP8B1c.1748G>C (p.Gly583Ala)
c.1613G>C
c.1634G>C (p.Gly545Ala)
c.1028G>C (p.Gly343Ala)
c.1598G>C (p.Gly533Ala)
18g.57674905C>TCA402560990ATP8B1c.1748G>A (p.Gly583Asp)
c.1613G>A
c.1634G>A (p.Gly545Asp)
c.1028G>A (p.Gly343Asp)
c.1598G>A (p.Gly533Asp)
18g.57674906C>ACA402560996ATP8B1c.1747G>T (p.Gly583Cys)
c.1612G>T
c.1633G>T (p.Gly545Cys)
c.1027G>T (p.Gly343Cys)
c.1597G>T (p.Gly533Cys)
18g.57674906C>GCA402561003ATP8B1c.1747G>C (p.Gly583Arg)
c.1612G>C
c.1633G>C (p.Gly545Arg)
c.1027G>C (p.Gly343Arg)
c.1597G>C (p.Gly533Arg)
18g.57674906C>TCA402561000ATP8B1c.1747G>A (p.Gly583Ser)
c.1612G>A
c.1633G>A (p.Gly545Ser)
c.1027G>A (p.Gly343Ser)
c.1597G>A (p.Gly533Ser)
18g.57674907C>ACA504021222ATP8B1c.1746G>T (p.Leu582=)
c.1611G>T
c.1632G>T (p.Leu544=)
c.1026G>T (p.Leu342=)
c.1596G>T (p.Leu532=)
18g.57674907C>GCA504021224ATP8B1c.1746G>C (p.Leu582=)
c.1611G>C
c.1632G>C (p.Leu544=)
c.1026G>C (p.Leu342=)
c.1596G>C (p.Leu532=)
18g.57674907C>TCA504021223ATP8B1c.1746G>A (p.Leu582=)
c.1611G>A
c.1632G>A (p.Leu544=)
c.1026G>A (p.Leu342=)
c.1596G>A (p.Leu532=)
18g.57674908delCA2641954486ATP8B1c.1745del (p.Leu582ArgfsTer26)
c.1610del
c.1631del (p.Leu544ArgfsTer26)
c.1025del (p.Leu342ArgfsTer26)
c.1595del (p.Leu532ArgfsTer26)
 gnomAD v4
18g.57674908A>CCA402561009ATP8B1c.1745T>G (p.Leu582Arg)
c.1610T>G
c.1631T>G (p.Leu544Arg)
c.1025T>G (p.Leu342Arg)
c.1595T>G (p.Leu532Arg)
18g.57674908A>GCA402561011ATP8B1c.1745T>C (p.Leu582Pro)
c.1610T>C
c.1631T>C (p.Leu544Pro)
c.1025T>C (p.Leu342Pro)
c.1595T>C (p.Leu532Pro)
18g.57674908A>TCA402561012ATP8B1c.1745T>A (p.Leu582Gln)
c.1610T>A
c.1631T>A (p.Leu544Gln)
c.1025T>A (p.Leu342Gln)
c.1595T>A (p.Leu532Gln)
18g.57674909G>ACA504021225ATP8B1c.1744C>T (p.Leu582=)
c.1609C>T
c.1630C>T (p.Leu544=)
c.1024C>T (p.Leu342=)
c.1594C>T (p.Leu532=)
18g.57674909G>CCA402561015ATP8B1c.1744C>G (p.Leu582Val)
c.1609C>G
c.1630C>G (p.Leu544Val)
c.1024C>G (p.Leu342Val)
c.1594C>G (p.Leu532Val)
18g.57674909G>TCA402561016ATP8B1c.1744C>A (p.Leu582Met)
c.1609C>A
c.1630C>A (p.Leu544Met)
c.1024C>A (p.Leu342Met)
c.1594C>A (p.Leu532Met)
 gnomAD v4
18g.57674910T>ACA402561017ATP8B1c.1743A>T (p.Glu581Asp)
c.1608A>T
c.1629A>T (p.Glu543Asp)
c.1023A>T (p.Glu341Asp)
c.1593A>T (p.Glu531Asp)
18g.57674910T>CCA8974489ATP8B1c.1743A>G (p.Glu581=)
c.1608A>G
c.1629A>G (p.Glu543=)
c.1023A>G (p.Glu341=)
c.1593A>G (p.Glu531=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.57674910T>GCA402561019ATP8B1c.1743A>C (p.Glu581Asp)
c.1608A>C
c.1629A>C (p.Glu543Asp)
c.1023A>C (p.Glu341Asp)
c.1593A>C (p.Glu531Asp)
 gnomAD v4
18g.57674910T=CA2306103165ATP8B1c.1743A= (p.Glu581=)
c.1608A=
c.1629A= (p.Glu543=)
c.1023A= (p.Glu341=)
c.1593A= (p.Glu531=)
18g.57674911T>ACA402561021ATP8B1c.1742A>T (p.Glu581Val)
c.1607A>T
c.1628A>T (p.Glu543Val)
c.1022A>T (p.Glu341Val)
c.1592A>T (p.Glu531Val)
18g.57674911T>CCA402561049ATP8B1c.1742A>G (p.Glu581Gly)
c.1607A>G
c.1628A>G (p.Glu543Gly)
c.1022A>G (p.Glu341Gly)
c.1592A>G (p.Glu531Gly)
18g.57674911T>GCA402561052ATP8B1c.1742A>C (p.Glu581Ala)
c.1607A>C
c.1628A>C (p.Glu543Ala)
c.1022A>C (p.Glu341Ala)
c.1592A>C (p.Glu531Ala)
18g.57674912C>ACA402561061ATP8B1c.1741G>T (p.Glu581Ter)
c.1606G>T
c.1627G>T (p.Glu543Ter)
c.1021G>T (p.Glu341Ter)
c.1591G>T (p.Glu531Ter)
18g.57674912C>GCA402561071ATP8B1c.1741G>C (p.Glu581Gln)
c.1606G>C
c.1627G>C (p.Glu543Gln)
c.1021G>C (p.Glu341Gln)
c.1591G>C (p.Glu531Gln)
18g.57674912C>TCA402561059ATP8B1c.1741G>A (p.Glu581Lys)
c.1606G>A
c.1627G>A (p.Glu543Lys)
c.1021G>A (p.Glu341Lys)
c.1591G>A (p.Glu531Lys)
18g.57674913A>CCA402561075ATP8B1c.1740T>G (p.Ser580Arg)
c.1605T>G
c.1626T>G (p.Ser542Arg)
c.1020T>G (p.Ser340Arg)
c.1590T>G (p.Ser530Arg)
18g.57674913A>GCA504021226ATP8B1c.1740T>C (p.Ser580=)
c.1605T>C
c.1626T>C (p.Ser542=)
c.1020T>C (p.Ser340=)
c.1590T>C (p.Ser530=)
18g.57674913A>TCA402561078ATP8B1c.1740T>A (p.Ser580Arg)
c.1605T>A
c.1626T>A (p.Ser542Arg)
c.1020T>A (p.Ser340Arg)
c.1590T>A (p.Ser530Arg)
18g.57674914C>ACA402561082ATP8B1c.1739G>T (p.Ser580Ile)
c.1604G>T
c.1625G>T (p.Ser542Ile)
c.1019G>T (p.Ser340Ile)
c.1589G>T (p.Ser530Ile)
18g.57674914C=CA2306103166ATP8B1c.1739G= (p.Ser580=)
c.1604G=
c.1625G= (p.Ser542=)
c.1019G= (p.Ser340=)
c.1589G= (p.Ser530=)
18g.57674914C>GCA402561084ATP8B1c.1739G>C (p.Ser580Thr)
c.1604G>C
c.1625G>C (p.Ser542Thr)
c.1019G>C (p.Ser340Thr)
c.1589G>C (p.Ser530Thr)
 gnomAD v4
18g.57674914C>TCA8974490ATP8B1c.1739G>A (p.Ser580Asn)
c.1604G>A
c.1625G>A (p.Ser542Asn)
c.1019G>A (p.Ser340Asn)
c.1589G>A (p.Ser530Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.57674915T>ACA402561086ATP8B1c.1738A>T (p.Ser580Cys)
c.1603A>T
c.1624A>T (p.Ser542Cys)
c.1018A>T (p.Ser340Cys)
c.1588A>T (p.Ser530Cys)
18g.57674915T>CCA402561088ATP8B1c.1738A>G (p.Ser580Gly)
c.1603A>G
c.1624A>G (p.Ser542Gly)
c.1018A>G (p.Ser340Gly)
c.1588A>G (p.Ser530Gly)
18g.57674915T>GCA402561091ATP8B1c.1738A>C (p.Ser580Arg)
c.1603A>C
c.1624A>C (p.Ser542Arg)
c.1018A>C (p.Ser340Arg)
c.1588A>C (p.Ser530Arg)
18g.57674916G>ACA504021228ATP8B1c.1737C>T (p.Ile579=)
c.1602C>T
c.1623C>T (p.Ile541=)
c.1017C>T (p.Ile339=)
c.1587C>T (p.Ile529=)
18g.57674916G>CCA402561094ATP8B1c.1737C>G (p.Ile579Met)
c.1602C>G
c.1623C>G (p.Ile541Met)
c.1017C>G (p.Ile339Met)
c.1587C>G (p.Ile529Met)
18g.57674916G>TCA504021229ATP8B1c.1737C>A (p.Ile579=)
c.1602C>A
c.1623C>A (p.Ile541=)
c.1017C>A (p.Ile339=)
c.1587C>A (p.Ile529=)
18g.57674917A>CCA402561101ATP8B1c.1736T>G (p.Ile579Ser)
c.1601T>G
c.1622T>G (p.Ile541Ser)
c.1016T>G (p.Ile339Ser)
c.1586T>G (p.Ile529Ser)
18g.57674917A>GCA402561103ATP8B1c.1736T>C (p.Ile579Thr)
c.1601T>C
c.1622T>C (p.Ile541Thr)
c.1016T>C (p.Ile339Thr)
c.1586T>C (p.Ile529Thr)
18g.57674917A>TCA402561112ATP8B1c.1736T>A (p.Ile579Asn)
c.1601T>A
c.1622T>A (p.Ile541Asn)
c.1016T>A (p.Ile339Asn)
c.1586T>A (p.Ile529Asn)
18g.57674918T>ACA402561120ATP8B1c.1735A>T (p.Ile579Phe)
c.1600A>T
c.1621A>T (p.Ile541Phe)
c.1015A>T (p.Ile339Phe)
c.1585A>T (p.Ile529Phe)
18g.57674918T>CCA402561121ATP8B1c.1735A>G (p.Ile579Val)
c.1600A>G
c.1621A>G (p.Ile541Val)
c.1015A>G (p.Ile339Val)
c.1585A>G (p.Ile529Val)
 dbSNP gnomAD v3 gnomAD v4
18g.57674918T>GCA402561126ATP8B1c.1735A>C (p.Ile579Leu)
c.1600A>C
c.1621A>C (p.Ile541Leu)
c.1015A>C (p.Ile339Leu)
c.1585A>C (p.Ile529Leu)
18g.57674918T=CA2306103167ATP8B1c.1735A= (p.Ile579=)
c.1600A=
c.1621A= (p.Ile541=)
c.1015A= (p.Ile339=)
c.1585A= (p.Ile529=)
18g.57674919G>ACA504021231ATP8B1c.1734C>T (p.Thr578=)
c.1599C>T
c.1620C>T (p.Thr540=)
c.1014C>T (p.Thr338=)
c.1584C>T (p.Thr528=)
 ClinVar dbSNP
18g.57674919G>CCA504021233ATP8B1c.1734C>G (p.Thr578=)
c.1599C>G
c.1620C>G (p.Thr540=)
c.1014C>G (p.Thr338=)
c.1584C>G (p.Thr528=)
18g.57674919G=CA2306103168ATP8B1c.1734C= (p.Thr578=)
c.1599C=
c.1620C= (p.Thr540=)
c.1014C= (p.Thr338=)
c.1584C= (p.Thr528=)
18g.57674919G>TCA504021234ATP8B1c.1734C>A (p.Thr578=)
c.1599C>A
c.1620C>A (p.Thr540=)
c.1014C>A (p.Thr338=)
c.1584C>A (p.Thr528=)
18g.57674920G>ACA402561139ATP8B1c.1733C>T (p.Thr578Ile)
c.1598C>T
c.1619C>T (p.Thr540Ile)
c.1013C>T (p.Thr338Ile)
c.1583C>T (p.Thr528Ile)
18g.57674920G>CCA402561136ATP8B1c.1733C>G (p.Thr578Ser)
c.1598C>G
c.1619C>G (p.Thr540Ser)
c.1013C>G (p.Thr338Ser)
c.1583C>G (p.Thr528Ser)
18g.57674920G>TCA402561133ATP8B1c.1733C>A (p.Thr578Asn)
c.1598C>A
c.1619C>A (p.Thr540Asn)
c.1013C>A (p.Thr338Asn)
c.1583C>A (p.Thr528Asn)
18g.57674921T>ACA402561140ATP8B1c.1732A>T (p.Thr578Ser)
c.1597A>T
c.1618A>T (p.Thr540Ser)
c.1012A>T (p.Thr338Ser)
c.1582A>T (p.Thr528Ser)
18g.57674921T>CCA402561141ATP8B1c.1732A>G (p.Thr578Ala)
c.1597A>G
c.1618A>G (p.Thr540Ala)
c.1012A>G (p.Thr338Ala)
c.1582A>G (p.Thr528Ala)
18g.57674921T>GCA402561142ATP8B1c.1732A>C (p.Thr578Pro)
c.1597A>C
c.1618A>C (p.Thr540Pro)
c.1012A>C (p.Thr338Pro)
c.1582A>C (p.Thr528Pro)
18g.57674922G>ACA504021236ATP8B1c.1731C>T (p.Ile577=)
c.1596C>T
c.1617C>T (p.Ile539=)
c.1011C>T (p.Ile337=)
c.1581C>T (p.Ile527=)
18g.57674922G>CCA402561145ATP8B1c.1731C>G (p.Ile577Met)
c.1596C>G
c.1617C>G (p.Ile539Met)
c.1011C>G (p.Ile337Met)
c.1581C>G (p.Ile527Met)
18g.57674922G>TCA504021235ATP8B1c.1731C>A (p.Ile577=)
c.1596C>A
c.1617C>A (p.Ile539=)
c.1011C>A (p.Ile337=)
c.1581C>A (p.Ile527=)
18g.57674923A>CCA402561148ATP8B1c.1730T>G (p.Ile577Ser)
c.1595T>G
c.1616T>G (p.Ile539Ser)
c.1010T>G (p.Ile337Ser)
c.1580T>G (p.Ile527Ser)
18g.57674923A>GCA402561151ATP8B1c.1730T>C (p.Ile577Thr)
c.1595T>C
c.1616T>C (p.Ile539Thr)
c.1010T>C (p.Ile337Thr)
c.1580T>C (p.Ile527Thr)
18g.57674923A>TCA402561153ATP8B1c.1730T>A (p.Ile577Asn)
c.1595T>A
c.1616T>A (p.Ile539Asn)
c.1010T>A (p.Ile337Asn)
c.1580T>A (p.Ile527Asn)
18g.57674924T>ACA402561157ATP8B1c.1729A>T (p.Ile577Phe)
c.1594A>T
c.1615A>T (p.Ile539Phe)
c.1009A>T (p.Ile337Phe)
c.1579A>T (p.Ile527Phe)
18g.57674924T>CCA8974491ATP8B1c.1729A>G (p.Ile577Val)
c.1594A>G
c.1615A>G (p.Ile539Val)
c.1009A>G (p.Ile337Val)
c.1579A>G (p.Ile527Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.57674924T>GCA402561162ATP8B1c.1729A>C (p.Ile577Leu)
c.1594A>C
c.1615A>C (p.Ile539Leu)
c.1009A>C (p.Ile337Leu)
c.1579A>C (p.Ile527Leu)
18g.57674924T=CA2306103169ATP8B1c.1729A= (p.Ile577=)
c.1594A=
c.1615A= (p.Ile539=)
c.1009A= (p.Ile337=)
c.1579A= (p.Ile527=)
18g.57674925G>ACA504021237ATP8B1c.1728C>T (p.Thr576=)
c.1593C>T
c.1614C>T (p.Thr538=)
c.1008C>T (p.Thr336=)
c.1578C>T (p.Thr526=)
18g.57674925G>CCA504021238ATP8B1c.1728C>G (p.Thr576=)
c.1593C>G
c.1614C>G (p.Thr538=)
c.1008C>G (p.Thr336=)
c.1578C>G (p.Thr526=)
18g.57674925G>TCA504021239ATP8B1c.1728C>A (p.Thr576=)
c.1593C>A
c.1614C>A (p.Thr538=)
c.1008C>A (p.Thr336=)
c.1578C>A (p.Thr526=)
18g.57674926G>ACA402561168ATP8B1c.1727C>T (p.Thr576Ile)
c.1592C>T
c.1613C>T (p.Thr538Ile)
c.1007C>T (p.Thr336Ile)
c.1577C>T (p.Thr526Ile)
18g.57674926G>CCA402561173ATP8B1c.1727C>G (p.Thr576Ser)
c.1592C>G
c.1613C>G (p.Thr538Ser)
c.1007C>G (p.Thr336Ser)
c.1577C>G (p.Thr526Ser)
18g.57674926G>TCA402561177ATP8B1c.1727C>A (p.Thr576Asn)
c.1592C>A
c.1613C>A (p.Thr538Asn)
c.1007C>A (p.Thr336Asn)
c.1577C>A (p.Thr526Asn)
18g.57674927T>ACA402561183ATP8B1c.1726A>T (p.Thr576Ser)
c.1591A>T
c.1612A>T (p.Thr538Ser)
c.1006A>T (p.Thr336Ser)
c.1576A>T (p.Thr526Ser)
18g.57674927T>CCA402561187ATP8B1c.1726A>G (p.Thr576Ala)
c.1591A>G
c.1612A>G (p.Thr538Ala)
c.1006A>G (p.Thr336Ala)
c.1576A>G (p.Thr526Ala)
18g.57674927T>GCA402561180ATP8B1c.1726A>C (p.Thr576Pro)
c.1591A>C
c.1612A>C (p.Thr538Pro)
c.1006A>C (p.Thr336Pro)
c.1576A>C (p.Thr526Pro)
18g.57674928G>ACA504021241ATP8B1c.1725C>T (p.Asn575=)
c.1590C>T
c.1611C>T (p.Asn537=)
c.1005C>T (p.Asn335=)
c.1575C>T (p.Asn525=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.57674928G>CCA402561191ATP8B1c.1725C>G (p.Asn575Lys)
c.1590C>G
c.1611C>G (p.Asn537Lys)
c.1005C>G (p.Asn335Lys)
c.1575C>G (p.Asn525Lys)
18g.57674928G=CA2306103170ATP8B1c.1725C= (p.Asn575=)
c.1590C=
c.1611C= (p.Asn537=)
c.1005C= (p.Asn335=)
c.1575C= (p.Asn525=)
18g.57674928G>TCA402561200ATP8B1c.1725C>A (p.Asn575Lys)
c.1590C>A
c.1611C>A (p.Asn537Lys)
c.1005C>A (p.Asn335Lys)
c.1575C>A (p.Asn525Lys)
18g.57674929T>ACA402561206ATP8B1c.1724A>T (p.Asn575Ile)
c.1589A>T
c.1610A>T (p.Asn537Ile)
c.1004A>T (p.Asn335Ile)
c.1574A>T (p.Asn525Ile)
18g.57674929T>CCA402561208ATP8B1c.1724A>G (p.Asn575Ser)
c.1589A>G
c.1610A>G (p.Asn537Ser)
c.1004A>G (p.Asn335Ser)
c.1574A>G (p.Asn525Ser)
18g.57674929T>GCA402561212ATP8B1c.1724A>C (p.Asn575Thr)
c.1589A>C
c.1610A>C (p.Asn537Thr)
c.1004A>C (p.Asn335Thr)
c.1574A>C (p.Asn525Thr)
 gnomAD v4
18g.57674930T>ACA402561215ATP8B1c.1723A>T (p.Asn575Tyr)
c.1588A>T
c.1609A>T (p.Asn537Tyr)
c.1003A>T (p.Asn335Tyr)
c.1573A>T (p.Asn525Tyr)
18g.57674930T>CCA402561219ATP8B1c.1723A>G (p.Asn575Asp)
c.1588A>G
c.1609A>G (p.Asn537Asp)
c.1003A>G (p.Asn335Asp)
c.1573A>G (p.Asn525Asp)
18g.57674930T>GCA402561222ATP8B1c.1723A>C (p.Asn575His)
c.1588A>C
c.1609A>C (p.Asn537His)
c.1003A>C (p.Asn335His)
c.1573A>C (p.Asn525His)
18g.57674931C>ACA402561225ATP8B1c.1722G>T (p.Gln574His)
c.1587G>T
c.1608G>T (p.Gln536His)
c.1002G>T (p.Gln334His)
c.1572G>T (p.Gln524His)
18g.57674931C>GCA402561228ATP8B1c.1722G>C (p.Gln574His)
c.1587G>C
c.1608G>C (p.Gln536His)
c.1002G>C (p.Gln334His)
c.1572G>C (p.Gln524His)
18g.57674931C>TCA504021244ATP8B1c.1722G>A (p.Gln574=)
c.1587G>A
c.1608G>A (p.Gln536=)
c.1002G>A (p.Gln334=)
c.1572G>A (p.Gln524=)
18g.57674932T>ACA402561234ATP8B1c.1721A>T (p.Gln574Leu)
c.1586A>T
c.1607A>T (p.Gln536Leu)
c.1001A>T (p.Gln334Leu)
c.1571A>T (p.Gln524Leu)
18g.57674932T>CCA402561236ATP8B1c.1721A>G (p.Gln574Arg)
c.1586A>G
c.1607A>G (p.Gln536Arg)
c.1001A>G (p.Gln334Arg)
c.1571A>G (p.Gln524Arg)
 gnomAD v4
18g.57674932T>GCA402561239ATP8B1c.1721A>C (p.Gln574Pro)
c.1586A>C
c.1607A>C (p.Gln536Pro)
c.1001A>C (p.Gln334Pro)
c.1571A>C (p.Gln524Pro)
18g.57674933G>ACA402561244ATP8B1c.1720C>T (p.Gln574Ter)
c.1585C>T
c.1606C>T (p.Gln536Ter)
c.1000C>T (p.Gln334Ter)
c.1570C>T (p.Gln524Ter)
18g.57674933G>CCA402561252ATP8B1c.1720C>G (p.Gln574Glu)
c.1585C>G
c.1606C>G (p.Gln536Glu)
c.1000C>G (p.Gln334Glu)
c.1570C>G (p.Gln524Glu)
18g.57674933G>TCA402561248ATP8B1c.1720C>A (p.Gln574Lys)
c.1585C>A
c.1606C>A (p.Gln536Lys)
c.1000C>A (p.Gln334Lys)
c.1570C>A (p.Gln524Lys)
18g.57674934G>ACA504021245ATP8B1c.1719C>T (p.Thr573=)
c.1584C>T
c.1605C>T (p.Thr535=)
c.999C>T (p.Thr333=)
c.1569C>T (p.Thr523=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.57674934G>CCA504021246ATP8B1c.1719C>G (p.Thr573=)
c.1584C>G
c.1605C>G (p.Thr535=)
c.999C>G (p.Thr333=)
c.1569C>G (p.Thr523=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.57674934G=CA2306103171ATP8B1c.1719C= (p.Thr573=)
c.1584C=
c.1605C= (p.Thr535=)
c.999C= (p.Thr333=)
c.1569C= (p.Thr523=)
18g.57674934G>TCA504021247ATP8B1c.1719C>A (p.Thr573=)
c.1584C>A
c.1605C>A (p.Thr535=)
c.999C>A (p.Thr333=)
c.1569C>A (p.Thr523=)
 gnomAD v4
18g.57674935G>ACA402561255ATP8B1c.1718C>T (p.Thr573Ile)
c.1583C>T
c.1604C>T (p.Thr535Ile)
c.998C>T (p.Thr333Ile)
c.1568C>T (p.Thr523Ile)
 gnomAD v4
18g.57674935G>CCA402561259ATP8B1c.1718C>G (p.Thr573Ser)
c.1583C>G
c.1604C>G (p.Thr535Ser)
c.998C>G (p.Thr333Ser)
c.1568C>G (p.Thr523Ser)
18g.57674935G>TCA402561263ATP8B1c.1718C>A (p.Thr573Asn)
c.1583C>A
c.1604C>A (p.Thr535Asn)
c.998C>A (p.Thr333Asn)
c.1568C>A (p.Thr523Asn)
 COSMIC
18g.57674936T>ACA402561269ATP8B1c.1717A>T (p.Thr573Ser)
c.1582A>T
c.1603A>T (p.Thr535Ser)
c.997A>T (p.Thr333Ser)
c.1567A>T (p.Thr523Ser)
18g.57674936T>CCA402561273ATP8B1c.1717A>G (p.Thr573Ala)
c.1582A>G
c.1603A>G (p.Thr535Ala)
c.997A>G (p.Thr333Ala)
c.1567A>G (p.Thr523Ala)
18g.57674936T>GCA402561276ATP8B1c.1717A>C (p.Thr573Pro)
c.1582A>C
c.1603A>C (p.Thr535Pro)
c.997A>C (p.Thr333Pro)
c.1567A>C (p.Thr523Pro)
18g.57674937C>ACA402561278ATP8B1c.1716G>T (p.Arg572Ser)
c.1581G>T
c.1602G>T (p.Arg534Ser)
c.996G>T (p.Arg332Ser)
c.1566G>T (p.Arg522Ser)
18g.57674937C>GCA402561281ATP8B1c.1716G>C (p.Arg572Ser)
c.1581G>C
c.1602G>C (p.Arg534Ser)
c.996G>C (p.Arg332Ser)
c.1566G>C (p.Arg522Ser)
18g.57674937C>TCA504021249ATP8B1c.1716G>A (p.Arg572=)
c.1581G>A
c.1602G>A (p.Arg534=)
c.996G>A (p.Arg332=)
c.1566G>A (p.Arg522=)
18g.57674938C>ACA402561283ATP8B1c.1715G>T (p.Arg572Met)
c.1580G>T
c.1601G>T (p.Arg534Met)
c.995G>T (p.Arg332Met)
c.1565G>T (p.Arg522Met)
18g.57674938C>GCA402561285ATP8B1c.1715G>C (p.Arg572Thr)
c.1580G>C
c.1601G>C (p.Arg534Thr)
c.995G>C (p.Arg332Thr)
c.1565G>C (p.Arg522Thr)
18g.57674938C>TCA402561286ATP8B1c.1715G>A (p.Arg572Lys)
c.1580G>A
c.1601G>A (p.Arg534Lys)
c.995G>A (p.Arg332Lys)
c.1565G>A (p.Arg522Lys)
18g.57674939T>ACA402561289ATP8B1c.1714A>T (p.Arg572Trp)
c.1579A>T
c.1600A>T (p.Arg534Trp)
c.994A>T (p.Arg332Trp)
c.1564A>T (p.Arg522Trp)
18g.57674939T>CCA402561292ATP8B1c.1714A>G (p.Arg572Gly)
c.1579A>G
c.1600A>G (p.Arg534Gly)
c.994A>G (p.Arg332Gly)
c.1564A>G (p.Arg522Gly)
18g.57674939T>GCA504021252ATP8B1c.1714A>C (p.Arg572=)
c.1579A>C
c.1600A>C (p.Arg534=)
c.994A>C (p.Arg332=)
c.1564A>C (p.Arg522=)
18g.57674940G>ACA504021254ATP8B1c.1713C>T (p.Ala571=)
c.1578C>T
c.1599C>T (p.Ala533=)
c.993C>T (p.Ala331=)
c.1563C>T (p.Ala521=)
18g.57674940G>CCA504021255ATP8B1c.1713C>G (p.Ala571=)
c.1578C>G
c.1599C>G (p.Ala533=)
c.993C>G (p.Ala331=)
c.1563C>G (p.Ala521=)
18g.57674940G>TCA504021256ATP8B1c.1713C>A (p.Ala571=)
c.1578C>A
c.1599C>A (p.Ala533=)
c.993C>A (p.Ala331=)
c.1563C>A (p.Ala521=)
18g.57674941G>ACA8974492ATP8B1c.1712C>T (p.Ala571Val)
c.1577C>T
c.1598C>T (p.Ala533Val)
c.992C>T (p.Ala331Val)
c.1562C>T (p.Ala521Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.57674941G>CCA402561299ATP8B1c.1712C>G (p.Ala571Gly)
c.1577C>G
c.1598C>G (p.Ala533Gly)
c.992C>G (p.Ala331Gly)
c.1562C>G (p.Ala521Gly)
 dbSNP gnomAD v2 gnomAD v4
18g.57674941G=CA2306103172ATP8B1c.1712C= (p.Ala571=)
c.1577C=
c.1598C= (p.Ala533=)
c.992C= (p.Ala331=)
c.1562C= (p.Ala521=)
18g.57674941G>TCA402561301ATP8B1c.1712C>A (p.Ala571Asp)
c.1577C>A
c.1598C>A (p.Ala533Asp)
c.992C>A (p.Ala331Asp)
c.1562C>A (p.Ala521Asp)
18g.57674942C>ACA402561308ATP8B1c.1711G>T (p.Ala571Ser)
c.1576G>T
c.1597G>T (p.Ala533Ser)
c.991G>T (p.Ala331Ser)
c.1561G>T (p.Ala521Ser)
 gnomAD v4
18g.57674942C=CA2306103173ATP8B1c.1711G= (p.Ala571=)
c.1576G=
c.1597G= (p.Ala533=)
c.991G= (p.Ala331=)
c.1561G= (p.Ala521=)
18g.57674942C>GCA402561311ATP8B1c.1711G>C (p.Ala571Pro)
c.1576G>C
c.1597G>C (p.Ala533Pro)
c.991G>C (p.Ala331Pro)
c.1561G>C (p.Ala521Pro)
18g.57674942C>TCA8974493ATP8B1c.1711G>A (p.Ala571Thr)
c.1576G>A
c.1597G>A (p.Ala533Thr)
c.991G>A (p.Ala331Thr)
c.1561G>A (p.Ala521Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.57674943G>ACA8974494ATP8B1c.1710C>T (p.Leu570=)
c.1575C>T
c.1596C>T (p.Leu532=)
c.990C>T (p.Leu330=)
c.1560C>T (p.Leu520=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.57674943G>CCA504021259ATP8B1c.1710C>G (p.Leu570=)
c.1575C>G
c.1596C>G (p.Leu532=)
c.990C>G (p.Leu330=)
c.1560C>G (p.Leu520=)
 gnomAD v4
18g.57674943G=CA2306103174ATP8B1c.1710C= (p.Leu570=)
c.1575C=
c.1596C= (p.Leu532=)
c.990C= (p.Leu330=)
c.1560C= (p.Leu520=)
18g.57674943G>TCA504021260ATP8B1c.1710C>A (p.Leu570=)
c.1575C>A
c.1596C>A (p.Leu532=)
c.990C>A (p.Leu330=)
c.1560C>A (p.Leu520=)
18g.57674944A>CCA402561330ATP8B1c.1709T>G (p.Leu570Arg)
c.1574T>G
c.1595T>G (p.Leu532Arg)
c.989T>G (p.Leu330Arg)
c.1559T>G (p.Leu520Arg)
18g.57674944A>GCA402561324ATP8B1c.1709T>C (p.Leu570Pro)
c.1574T>C
c.1595T>C (p.Leu532Pro)
c.989T>C (p.Leu330Pro)
c.1559T>C (p.Leu520Pro)
18g.57674944A>TCA402561328ATP8B1c.1709T>A (p.Leu570His)
c.1574T>A
c.1595T>A (p.Leu532His)
c.989T>A (p.Leu330His)
c.1559T>A (p.Leu520His)
18g.57674945G>ACA402561338ATP8B1c.1708C>T (p.Leu570Phe)
c.1573C>T
c.1594C>T (p.Leu532Phe)
c.988C>T (p.Leu330Phe)
c.1558C>T (p.Leu520Phe)
 dbSNP gnomAD v3 gnomAD v4
18g.57674945G>CCA402561340ATP8B1c.1708C>G (p.Leu570Val)
c.1573C>G
c.1594C>G (p.Leu532Val)
c.988C>G (p.Leu330Val)
c.1558C>G (p.Leu520Val)
18g.57674945G=CA2306103175ATP8B1c.1708C= (p.Leu570=)
c.1573C=
c.1594C= (p.Leu532=)
c.988C= (p.Leu330=)
c.1558C= (p.Leu520=)
18g.57674945G>TCA402561345ATP8B1c.1708C>A (p.Leu570Ile)
c.1573C>A
c.1594C>A (p.Leu532Ile)
c.988C>A (p.Leu330Ile)
c.1558C>A (p.Leu520Ile)
18g.57674946G>ACA504021263ATP8B1c.1707C>T (p.Phe569=)
c.1572C>T
c.1593C>T (p.Phe531=)
c.987C>T (p.Phe329=)
c.1557C>T (p.Phe519=)
18g.57674946G>CCA402561349ATP8B1c.1707C>G (p.Phe569Leu)
c.1572C>G
c.1593C>G (p.Phe531Leu)
c.987C>G (p.Phe329Leu)
c.1557C>G (p.Phe519Leu)
18g.57674946G>TCA402561352ATP8B1c.1707C>A (p.Phe569Leu)
c.1572C>A
c.1593C>A (p.Phe531Leu)
c.987C>A (p.Phe329Leu)
c.1557C>A (p.Phe519Leu)
18g.57674947A=CA2306103176ATP8B1c.1706T= (p.Phe569=)
c.1571T=
c.1592T= (p.Phe531=)
c.986T= (p.Phe329=)
c.1556T= (p.Phe519=)
18g.57674947A>CCA402561356ATP8B1c.1706T>G (p.Phe569Cys)
c.1571T>G
c.1592T>G (p.Phe531Cys)
c.986T>G (p.Phe329Cys)
c.1556T>G (p.Phe519Cys)
 dbSNP gnomAD v2 gnomAD v4
18g.57674947A>GCA402561368ATP8B1c.1706T>C (p.Phe569Ser)
c.1571T>C
c.1592T>C (p.Phe531Ser)
c.986T>C (p.Phe329Ser)
c.1556T>C (p.Phe519Ser)
18g.57674947A>TCA402561360ATP8B1c.1706T>A (p.Phe569Tyr)
c.1571T>A
c.1592T>A (p.Phe531Tyr)
c.986T>A (p.Phe329Tyr)
c.1556T>A (p.Phe519Tyr)
 dbSNP
18g.57674948A>CCA402561375ATP8B1c.1705T>G (p.Phe569Val)
c.1570T>G
c.1591T>G (p.Phe531Val)
c.985T>G (p.Phe329Val)
c.1555T>G (p.Phe519Val)
18g.57674948A>GCA402561379ATP8B1c.1705T>C (p.Phe569Leu)
c.1570T>C
c.1591T>C (p.Phe531Leu)
c.985T>C (p.Phe329Leu)
c.1555T>C (p.Phe519Leu)
18g.57674948A>TCA402561383ATP8B1c.1705T>A (p.Phe569Ile)
c.1570T>A
c.1591T>A (p.Phe531Ile)
c.985T>A (p.Phe329Ile)
c.1555T>A (p.Phe519Ile)
18g.57674949G>ACA504021265ATP8B1c.1704C>T (p.Ala568=)
c.1569C>T
c.1590C>T (p.Ala530=)
c.984C>T (p.Ala328=)
c.1554C>T (p.Ala518=)
18g.57674949G>CCA504021266ATP8B1c.1704C>G (p.Ala568=)
c.1569C>G
c.1590C>G (p.Ala530=)
c.984C>G (p.Ala328=)
c.1554C>G (p.Ala518=)
18g.57674949G>TCA504021267ATP8B1c.1704C>A (p.Ala568=)
c.1569C>A
c.1590C>A (p.Ala530=)
c.984C>A (p.Ala328=)
c.1554C>A (p.Ala518=)
18g.57674950G>ACA8974495ATP8B1c.1703C>T (p.Ala568Val)
c.1568C>T
c.1589C>T (p.Ala530Val)
c.983C>T (p.Ala328Val)
c.1553C>T (p.Ala518Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.57674950G>CCA402561386ATP8B1c.1703C>G (p.Ala568Gly)
c.1568C>G
c.1589C>G (p.Ala530Gly)
c.983C>G (p.Ala328Gly)
c.1553C>G (p.Ala518Gly)
18g.57674950G=CA2306103177ATP8B1c.1703C= (p.Ala568=)
c.1568C=
c.1589C= (p.Ala530=)
c.983C= (p.Ala328=)
c.1553C= (p.Ala518=)
18g.57674950G>TCA402561392ATP8B1c.1703C>A (p.Ala568Asp)
c.1568C>A
c.1589C>A (p.Ala530Asp)
c.983C>A (p.Ala328Asp)
c.1553C>A (p.Ala518Asp)
18g.57674951C>ACA402561398ATP8B1c.1702G>T (p.Ala568Ser)
c.1567G>T
c.1588G>T (p.Ala530Ser)
c.982G>T (p.Ala328Ser)
c.1552G>T (p.Ala518Ser)
18g.57674951C>GCA402561405ATP8B1c.1702G>C (p.Ala568Pro)
c.1567G>C
c.1588G>C (p.Ala530Pro)
c.982G>C (p.Ala328Pro)
c.1552G>C (p.Ala518Pro)
18g.57674951C>TCA402561411ATP8B1c.1702G>A (p.Ala568Thr)
c.1567G>A
c.1588G>A (p.Ala530Thr)
c.982G>A (p.Ala328Thr)
c.1552G>A (p.Ala518Thr)
18g.57674952A=CA2306103178ATP8B1c.1701T= (p.Phe567=)
c.1566T=
c.1587T= (p.Phe529=)
c.981T= (p.Phe327=)
c.1551T= (p.Phe517=)
18g.57674952A>CCA402561414ATP8B1c.1701T>G (p.Phe567Leu)
c.1566T>G
c.1587T>G (p.Phe529Leu)
c.981T>G (p.Phe327Leu)
c.1551T>G (p.Phe517Leu)
18g.57674952A>GCA504021268ATP8B1c.1701T>C (p.Phe567=)
c.1566T>C
c.1587T>C (p.Phe529=)
c.981T>C (p.Phe327=)
c.1551T>C (p.Phe517=)
 dbSNP
18g.57674952A>TCA402561418ATP8B1c.1701T>A (p.Phe567Leu)
c.1566T>A
c.1587T>A (p.Phe529Leu)
c.981T>A (p.Phe327Leu)
c.1551T>A (p.Phe517Leu)
18g.57674953A=CA2306103179ATP8B1c.1700T= (p.Phe567=)
c.1565T=
c.1586T= (p.Phe529=)
c.980T= (p.Phe327=)
c.1550T= (p.Phe517=)
18g.57674953A>CCA402561425ATP8B1c.1700T>G (p.Phe567Cys)
c.1565T>G
c.1586T>G (p.Phe529Cys)
c.980T>G (p.Phe327Cys)
c.1550T>G (p.Phe517Cys)
 COSMIC
18g.57674953A>GCA402561428ATP8B1c.1700T>C (p.Phe567Ser)
c.1565T>C
c.1586T>C (p.Phe529Ser)
c.980T>C (p.Phe327Ser)
c.1550T>C (p.Phe517Ser)
 dbSNP gnomAD v3 gnomAD v4
18g.57674953A>TCA402561427ATP8B1c.1700T>A (p.Phe567Tyr)
c.1565T>A
c.1586T>A (p.Phe529Tyr)
c.980T>A (p.Phe327Tyr)
c.1550T>A (p.Phe517Tyr)
18g.57674954A>CCA402561432ATP8B1c.1699T>G (p.Phe567Val)
c.1564T>G
c.1585T>G (p.Phe529Val)
c.979T>G (p.Phe327Val)
c.1549T>G (p.Phe517Val)
 gnomAD v4
18g.57674954A>GCA402561433ATP8B1c.1699T>C (p.Phe567Leu)
c.1564T>C
c.1585T>C (p.Phe529Leu)
c.979T>C (p.Phe327Leu)
c.1549T>C (p.Phe517Leu)
18g.57674954A>TCA402561434ATP8B1c.1699T>A (p.Phe567Ile)
c.1564T>A
c.1585T>A (p.Phe529Ile)
c.979T>A (p.Phe327Ile)
c.1549T>A (p.Phe517Ile)
18g.57674955G>ACA504021272ATP8B1c.1698C>T (p.Gly566=)
c.1563C>T
c.1584C>T (p.Gly528=)
c.978C>T (p.Gly326=)
c.1548C>T (p.Gly516=)
 dbSNP
18g.57674955G>CCA504021273ATP8B1c.1698C>G (p.Gly566=)
c.1563C>G
c.1584C>G (p.Gly528=)
c.978C>G (p.Gly326=)
c.1548C>G (p.Gly516=)
18g.57674955G=CA2306103180ATP8B1c.1698C= (p.Gly566=)
c.1563C=
c.1584C= (p.Gly528=)
c.978C= (p.Gly326=)
c.1548C= (p.Gly516=)
18g.57674955G>TCA504021274ATP8B1c.1698C>A (p.Gly566=)
c.1563C>A
c.1584C>A (p.Gly528=)
c.978C>A (p.Gly326=)
c.1548C>A (p.Gly516=)
18g.57674956C>ACA402561437ATP8B1c.1697G>T (p.Gly566Val)
c.1562G>T
c.1583G>T (p.Gly528Val)
c.977G>T (p.Gly326Val)
c.1547G>T (p.Gly516Val)
18g.57674956C=CA2306103181ATP8B1c.1697G= (p.Gly566=)
c.1562G=
c.1583G= (p.Gly528=)
c.977G= (p.Gly326=)
c.1547G= (p.Gly516=)
18g.57674956C>GCA402561439ATP8B1c.1697G>C (p.Gly566Ala)
c.1562G>C
c.1583G>C (p.Gly528Ala)
c.977G>C (p.Gly326Ala)
c.1547G>C (p.Gly516Ala)
18g.57674956C>TCA300889144ATP8B1c.1697G>A (p.Gly566Asp)
c.1562G>A
c.1583G>A (p.Gly528Asp)
c.977G>A (p.Gly326Asp)
c.1547G>A (p.Gly516Asp)
 dbSNP gnomAD v3 gnomAD v4
18g.57674957C>ACA402561444ATP8B1c.1696G>T (p.Gly566Cys)
c.1561G>T
c.1582G>T (p.Gly528Cys)
c.976G>T (p.Gly326Cys)
c.1546G>T (p.Gly516Cys)
18g.57674957C=CA2306103182ATP8B1c.1696G= (p.Gly566=)
c.1561G=
c.1582G= (p.Gly528=)
c.976G= (p.Gly326=)
c.1546G= (p.Gly516=)
18g.57674957C>GCA402561449ATP8B1c.1696G>C (p.Gly566Arg)
c.1561G>C
c.1582G>C (p.Gly528Arg)
c.976G>C (p.Gly326Arg)
c.1546G>C (p.Gly516Arg)
18g.57674957C>TCA402561452ATP8B1c.1696G>A (p.Gly566Ser)
c.1561G>A
c.1582G>A (p.Gly528Ser)
c.976G>A (p.Gly326Ser)
c.1546G>A (p.Gly516Ser)
18g.57674958A>CCA402561460ATP8B1c.1695T>G (p.Phe565Leu)
c.1560T>G
c.1581T>G (p.Phe527Leu)
c.975T>G (p.Phe325Leu)
c.1545T>G (p.Phe515Leu)
18g.57674958A>GCA504021277ATP8B1c.1695T>C (p.Phe565=)
c.1560T>C
c.1581T>C (p.Phe527=)
c.975T>C (p.Phe325=)
c.1545T>C (p.Phe515=)
18g.57674958A>TCA402561462ATP8B1c.1695T>A (p.Phe565Leu)
c.1560T>A
c.1581T>A (p.Phe527Leu)
c.975T>A (p.Phe325Leu)
c.1545T>A (p.Phe515Leu)
18g.57674960dupCA402561457ATP8B1c.1695dup (p.Gly566TrpfsTer16)
c.1560dup
c.1581dup (p.Gly528TrpfsTer16)
c.975dup (p.Gly326TrpfsTer16)
c.1545dup (p.Gly516TrpfsTer16)
 dbSNP
18g.57674959A=CA2306103183ATP8B1c.1694T= (p.Phe565=)
c.1559T=
c.1580T= (p.Phe527=)
c.974T= (p.Phe325=)
c.1544T= (p.Phe515=)
18g.57674959A>CCA402561472ATP8B1c.1694T>G (p.Phe565Cys)
c.1559T>G
c.1580T>G (p.Phe527Cys)
c.974T>G (p.Phe325Cys)
c.1544T>G (p.Phe515Cys)
18g.57674959A>GCA402561466ATP8B1c.1694T>C (p.Phe565Ser)
c.1559T>C
c.1580T>C (p.Phe527Ser)
c.974T>C (p.Phe325Ser)
c.1544T>C (p.Phe515Ser)
 dbSNP
18g.57674959A>TCA402561468ATP8B1c.1694T>A (p.Phe565Tyr)
c.1559T>A
c.1580T>A (p.Phe527Tyr)
c.974T>A (p.Phe325Tyr)
c.1544T>A (p.Phe515Tyr)
18g.57674960A>CCA402561476ATP8B1c.1693T>G (p.Phe565Val)
c.1558T>G
c.1579T>G (p.Phe527Val)
c.973T>G (p.Phe325Val)
c.1543T>G (p.Phe515Val)
18g.57674960A>GCA402561478ATP8B1c.1693T>C (p.Phe565Leu)
c.1558T>C
c.1579T>C (p.Phe527Leu)
c.973T>C (p.Phe325Leu)
c.1543T>C (p.Phe515Leu)
18g.57674960A>TCA402561481ATP8B1c.1693T>A (p.Phe565Ile)
c.1558T>A
c.1579T>A (p.Phe527Ile)
c.973T>A (p.Phe325Ile)
c.1543T>A (p.Phe515Ile)
18g.57674961G>ACA8974496ATP8B1c.1692C>T (p.Asn564=)
c.1557C>T
c.1578C>T (p.Asn526=)
c.972C>T (p.Asn324=)
c.1542C>T (p.Asn514=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.57674961G>CCA402561487ATP8B1c.1692C>G (p.Asn564Lys)
c.1557C>G
c.1578C>G (p.Asn526Lys)
c.972C>G (p.Asn324Lys)
c.1542C>G (p.Asn514Lys)
18g.57674961G=CA2306103184ATP8B1c.1692C= (p.Asn564=)
c.1557C=
c.1578C= (p.Asn526=)
c.972C= (p.Asn324=)
c.1542C= (p.Asn514=)
18g.57674961G>TCA402561490ATP8B1c.1692C>A (p.Asn564Lys)
c.1557C>A
c.1578C>A (p.Asn526Lys)
c.972C>A (p.Asn324Lys)
c.1542C>A (p.Asn514Lys)
18g.57674962T>ACA402561495ATP8B1c.1691A>T (p.Asn564Ile)
c.1556A>T
c.1577A>T (p.Asn526Ile)
c.971A>T (p.Asn324Ile)
c.1541A>T (p.Asn514Ile)
18g.57674962T>CCA402561499ATP8B1c.1691A>G (p.Asn564Ser)
c.1556A>G
c.1577A>G (p.Asn526Ser)
c.971A>G (p.Asn324Ser)
c.1541A>G (p.Asn514Ser)
18g.57674962T>GCA402561501ATP8B1c.1691A>C (p.Asn564Thr)
c.1556A>C
c.1577A>C (p.Asn526Thr)
c.971A>C (p.Asn324Thr)
c.1541A>C (p.Asn514Thr)
18g.57674963T>ACA402561503ATP8B1c.1690A>T (p.Asn564Tyr)
c.1555A>T
c.1576A>T (p.Asn526Tyr)
c.970A>T (p.Asn324Tyr)
c.1540A>T (p.Asn514Tyr)
18g.57674963T>CCA402561509ATP8B1c.1690A>G (p.Asn564Asp)
c.1555A>G
c.1576A>G (p.Asn526Asp)
c.970A>G (p.Asn324Asp)
c.1540A>G (p.Asn514Asp)
18g.57674963T>GCA402561516ATP8B1c.1690A>C (p.Asn564His)
c.1555A>C
c.1576A>C (p.Asn526His)
c.970A>C (p.Asn324His)
c.1540A>C (p.Asn514His)
18g.57674964C>ACA402561542ATP8B1c.1689G>T (p.Arg563Ser)
c.1554G>T
c.1575G>T (p.Arg525Ser)
c.969G>T (p.Arg323Ser)
c.1539G>T (p.Arg513Ser)
18g.57674964C>GCA402561535ATP8B1c.1689G>C (p.Arg563Ser)
c.1554G>C
c.1575G>C (p.Arg525Ser)
c.969G>C (p.Arg323Ser)
c.1539G>C (p.Arg513Ser)
18g.57674964C>TCA504021284ATP8B1c.1689G>A (p.Arg563=)
c.1554G>A
c.1575G>A (p.Arg525=)
c.969G>A (p.Arg323=)
c.1539G>A (p.Arg513=)
18g.57674965_57674979delCA2695227681ATP8B1c.1675_1689del (p.Val559_Arg563del)
c.1540_1554del
c.1561_1575del (p.Val521_Arg525del)
c.955_969del (p.Val319_Arg323del)
c.1525_1539del (p.Val509_Arg513del)
18g.57674965C>ACA402561543ATP8B1c.1688G>T (p.Arg563Met)
c.1553G>T
c.1574G>T (p.Arg525Met)
c.968G>T (p.Arg323Met)
c.1538G>T (p.Arg513Met)
18g.57674965C>GCA402561545ATP8B1c.1688G>C (p.Arg563Thr)
c.1553G>C
c.1574G>C (p.Arg525Thr)
c.968G>C (p.Arg323Thr)
c.1538G>C (p.Arg513Thr)
18g.57674965C>TCA402561544ATP8B1c.1688G>A (p.Arg563Lys)
c.1553G>A
c.1574G>A (p.Arg525Lys)
c.968G>A (p.Arg323Lys)
c.1538G>A (p.Arg513Lys)
 gnomAD v4
18g.57674966T>ACA402561549ATP8B1c.1687A>T (p.Arg563Trp)
c.1552A>T
c.1573A>T (p.Arg525Trp)
c.967A>T (p.Arg323Trp)
c.1537A>T (p.Arg513Trp)
18g.57674966T>CCA402561553ATP8B1c.1687A>G (p.Arg563Gly)
c.1552A>G
c.1573A>G (p.Arg525Gly)
c.967A>G (p.Arg323Gly)
c.1537A>G (p.Arg513Gly)
18g.57674966T>GCA504021286ATP8B1c.1687A>C (p.Arg563=)
c.1552A>C
c.1573A>C (p.Arg525=)
c.967A>C (p.Arg323=)
c.1537A>C (p.Arg513=)
18g.57674967G>ACA504021287ATP8B1c.1686C>T (p.Ala562=)
c.1551C>T
c.1572C>T (p.Ala524=)
c.966C>T (p.Ala322=)
c.1536C>T (p.Ala512=)
18g.57674967G>CCA504021288ATP8B1c.1686C>G (p.Ala562=)
c.1551C>G
c.1572C>G (p.Ala524=)
c.966C>G (p.Ala322=)
c.1536C>G (p.Ala512=)
18g.57674967G>TCA504021290ATP8B1c.1686C>A (p.Ala562=)
c.1551C>A
c.1572C>A (p.Ala524=)
c.966C>A (p.Ala322=)
c.1536C>A (p.Ala512=)
18g.57674968G>ACA402561554ATP8B1c.1685C>T (p.Ala562Val)
c.1550C>T
c.1571C>T (p.Ala524Val)
c.965C>T (p.Ala322Val)
c.1535C>T (p.Ala512Val)
 gnomAD v4
18g.57674968G>CCA402561555ATP8B1c.1685C>G (p.Ala562Gly)
c.1550C>G
c.1571C>G (p.Ala524Gly)
c.965C>G (p.Ala322Gly)
c.1535C>G (p.Ala512Gly)
18g.57674968G>TCA402561558ATP8B1c.1685C>A (p.Ala562Asp)
c.1550C>A
c.1571C>A (p.Ala524Asp)
c.965C>A (p.Ala322Asp)
c.1535C>A (p.Ala512Asp)
18g.57674969C>ACA402561562ATP8B1c.1684G>T (p.Ala562Ser)
c.1549G>T
c.1570G>T (p.Ala524Ser)
c.964G>T (p.Ala322Ser)
c.1534G>T (p.Ala512Ser)
18g.57674969C>GCA402561568ATP8B1c.1684G>C (p.Ala562Pro)
c.1549G>C
c.1570G>C (p.Ala524Pro)
c.964G>C (p.Ala322Pro)
c.1534G>C (p.Ala512Pro)
18g.57674969C>TCA402561573ATP8B1c.1684G>A (p.Ala562Thr)
c.1549G>A
c.1570G>A (p.Ala524Thr)
c.964G>A (p.Ala322Thr)
c.1534G>A (p.Ala512Thr)
18g.57674970A=CA2306103185ATP8B1c.1683T= (p.Ala561=)
c.1548T=
c.1569T= (p.Ala523=)
c.963T= (p.Ala321=)
c.1533T= (p.Ala511=)
18g.57674970A>CCA8974497ATP8B1c.1683T>G (p.Ala561=)
c.1548T>G
c.1569T>G (p.Ala523=)
c.963T>G (p.Ala321=)
c.1533T>G (p.Ala511=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.57674970A>GCA504021296ATP8B1c.1683T>C (p.Ala561=)
c.1548T>C
c.1569T>C (p.Ala523=)
c.963T>C (p.Ala321=)
c.1533T>C (p.Ala511=)
18g.57674970A>TCA504021294ATP8B1c.1683T>A (p.Ala561=)
c.1548T>A
c.1569T>A (p.Ala523=)
c.963T>A (p.Ala321=)
c.1533T>A (p.Ala511=)
18g.57674971G>ACA402561580ATP8B1c.1682C>T (p.Ala561Val)
c.1547C>T
c.1568C>T (p.Ala523Val)
c.962C>T (p.Ala321Val)
c.1532C>T (p.Ala511Val)
18g.57674971G>CCA402561586ATP8B1c.1682C>G (p.Ala561Gly)
c.1547C>G
c.1568C>G (p.Ala523Gly)
c.962C>G (p.Ala321Gly)
c.1532C>G (p.Ala511Gly)
18g.57674971G>TCA402561593ATP8B1c.1682C>A (p.Ala561Asp)
c.1547C>A
c.1568C>A (p.Ala523Asp)
c.962C>A (p.Ala321Asp)
c.1532C>A (p.Ala511Asp)
18g.57674972C>ACA402561598ATP8B1c.1681G>T (p.Ala561Ser)
c.1546G>T
c.1567G>T (p.Ala523Ser)
c.961G>T (p.Ala321Ser)
c.1531G>T (p.Ala511Ser)
18g.57674972C=CA2306103186ATP8B1c.1681G= (p.Ala561=)
c.1546G=
c.1567G= (p.Ala523=)
c.961G= (p.Ala321=)
c.1531G= (p.Ala511=)
18g.57674972C>GCA402561600ATP8B1c.1681G>C (p.Ala561Pro)
c.1546G>C
c.1567G>C (p.Ala523Pro)
c.961G>C (p.Ala321Pro)
c.1531G>C (p.Ala511Pro)
18g.57674972C>TCA8974498ATP8B1c.1681G>A (p.Ala561Thr)
c.1546G>A
c.1567G>A (p.Ala523Thr)
c.961G>A (p.Ala321Thr)
c.1531G>A (p.Ala511Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.57674973G>ACA8974499ATP8B1c.1680C>T (p.Asn560=)
c.1545C>T
c.1566C>T (p.Asn522=)
c.960C>T (p.Asn320=)
c.1530C>T (p.Asn510=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.57674973G>CCA402561608ATP8B1c.1680C>G (p.Asn560Lys)
c.1545C>G
c.1566C>G (p.Asn522Lys)
c.960C>G (p.Asn320Lys)
c.1530C>G (p.Asn510Lys)
18g.57674973G=CA2306103187ATP8B1c.1680C= (p.Asn560=)
c.1545C=
c.1566C= (p.Asn522=)
c.960C= (p.Asn320=)
c.1530C= (p.Asn510=)
18g.57674973G>TCA402561610ATP8B1c.1680C>A (p.Asn560Lys)
c.1545C>A
c.1566C>A (p.Asn522Lys)
c.960C>A (p.Asn320Lys)
c.1530C>A (p.Asn510Lys)
18g.57674974T>ACA402561616ATP8B1c.1679A>T (p.Asn560Ile)
c.1544A>T
c.1565A>T (p.Asn522Ile)
c.959A>T (p.Asn320Ile)
c.1529A>T (p.Asn510Ile)
18g.57674974T>CCA402561620ATP8B1c.1679A>G (p.Asn560Ser)
c.1544A>G
c.1565A>G (p.Asn522Ser)
c.959A>G (p.Asn320Ser)
c.1529A>G (p.Asn510Ser)
18g.57674974T>GCA402561625ATP8B1c.1679A>C (p.Asn560Thr)
c.1544A>C
c.1565A>C (p.Asn522Thr)
c.959A>C (p.Asn320Thr)
c.1529A>C (p.Asn510Thr)
18g.57674975T>ACA402561630ATP8B1c.1678A>T (p.Asn560Tyr)
c.1543A>T
c.1564A>T (p.Asn522Tyr)
c.958A>T (p.Asn320Tyr)
c.1528A>T (p.Asn510Tyr)
18g.57674975T>CCA402561632ATP8B1c.1678A>G (p.Asn560Asp)
c.1543A>G
c.1564A>G (p.Asn522Asp)
c.958A>G (p.Asn320Asp)
c.1528A>G (p.Asn510Asp)
 gnomAD v4
18g.57674975T>GCA402561642ATP8B1c.1678A>C (p.Asn560His)
c.1543A>C
c.1564A>C (p.Asn522His)
c.958A>C (p.Asn320His)
c.1528A>C (p.Asn510His)
18g.57674976T>ACA504021304ATP8B1c.1677A>T (p.Val559=)
c.1542A>T
c.1563A>T (p.Val521=)
c.957A>T (p.Val319=)
c.1527A>T (p.Val509=)
18g.57674976T>CCA504021306ATP8B1c.1677A>G (p.Val559=)
c.1542A>G
c.1563A>G (p.Val521=)
c.957A>G (p.Val319=)
c.1527A>G (p.Val509=)
18g.57674976T>GCA504021307ATP8B1c.1677A>C (p.Val559=)
c.1542A>C
c.1563A>C (p.Val521=)
c.957A>C (p.Val319=)
c.1527A>C (p.Val509=)
18g.57674976_57674977insGGCTTCCGCCGCCCCAGCATCGCCCTTGCGTAGTGGGCCAGCCAGCATCCCCGCCAGTTTCCACACCAGCGCTTCGGTGAAGGTCGCCGGGTACAGCGCCGGGTCGTCGGCGGTGGCGATGTAGCGCCA2515259107ATP8B1c.1676_1677insGCGCTACATCGCCACCGCCGACGACCCGGCGCTGTACCCGGCGACCTTCACCGAAGCGCTGGTGTGGAAACTGGCGGGGATGCTGGCTGGCCCACTACGCAAGGGCGATGCTGGGGCGGCGGAAGCC (p.Asn560ArgfsTer64)
c.1541_1542insGCGCTACATCGCCACCGCCGACGACCCGGCGCTGTACCCGGCGACCTTCACCGAAGCGCTGGTGTGGAAACTGGCGGGGATGCTGGCTGGCCCACTACGCAAGGGCGATGCTGGGGCGGCGGAAGCC
c.1562_1563insGCGCTACATCGCCACCGCCGACGACCCGGCGCTGTACCCGGCGACCTTCACCGAAGCGCTGGTGTGGAAACTGGCGGGGATGCTGGCTGGCCCACTACGCAAGGGCGATGCTGGGGCGGCGGAAGCC (p.Asn522ArgfsTer64)
c.956_957insGCGCTACATCGCCACCGCCGACGACCCGGCGCTGTACCCGGCGACCTTCACCGAAGCGCTGGTGTGGAAACTGGCGGGGATGCTGGCTGGCCCACTACGCAAGGGCGATGCTGGGGCGGCGGAAGCC (p.Asn320ArgfsTer64)
c.1526_1527insGCGCTACATCGCCACCGCCGACGACCCGGCGCTGTACCCGGCGACCTTCACCGAAGCGCTGGTGTGGAAACTGGCGGGGATGCTGGCTGGCCCACTACGCAAGGGCGATGCTGGGGCGGCGGAAGCC (p.Asn510ArgfsTer64)
18g.57674977A>CCA402561658ATP8B1c.1676T>G (p.Val559Gly)
c.1541T>G
c.1562T>G (p.Val521Gly)
c.956T>G (p.Val319Gly)
c.1526T>G (p.Val509Gly)
18g.57674977A>GCA402561664ATP8B1c.1676T>C (p.Val559Ala)
c.1541T>C
c.1562T>C (p.Val521Ala)
c.956T>C (p.Val319Ala)
c.1526T>C (p.Val509Ala)
18g.57674977A>TCA402561671ATP8B1c.1676T>A (p.Val559Glu)
c.1541T>A
c.1562T>A (p.Val521Glu)
c.956T>A (p.Val319Glu)
c.1526T>A (p.Val509Glu)
18g.57674978C>ACA402561676ATP8B1c.1675G>T (p.Val559Leu)
c.1540G>T
c.1561G>T (p.Val521Leu)
c.955G>T (p.Val319Leu)
c.1525G>T (p.Val509Leu)
18g.57674978C=CA2306103188ATP8B1c.1675G= (p.Val559=)
c.1540G=
c.1561G= (p.Val521=)
c.955G= (p.Val319=)
c.1525G= (p.Val509=)
18g.57674978C>GCA402561681ATP8B1c.1675G>C (p.Val559Leu)
c.1540G>C
c.1561G>C (p.Val521Leu)
c.955G>C (p.Val319Leu)
c.1525G>C (p.Val509Leu)
18g.57674978C>TCA402561682ATP8B1c.1675G>A (p.Val559Ile)
c.1540G>A
c.1561G>A (p.Val521Ile)
c.955G>A (p.Val319Ile)
c.1525G>A (p.Val509Ile)
 dbSNP gnomAD v2
18g.57674979C>ACA504021309ATP8B1c.1674G>T (p.Leu558=)
c.1539G>T
c.1560G>T (p.Leu520=)
c.954G>T (p.Leu318=)
c.1524G>T (p.Leu508=)
18g.57674979C>GCA504021311ATP8B1c.1674G>C (p.Leu558=)
c.1539G>C
c.1560G>C (p.Leu520=)
c.954G>C (p.Leu318=)
c.1524G>C (p.Leu508=)
 gnomAD v4
18g.57674979C>TCA504021313ATP8B1c.1674G>A (p.Leu558=)
c.1539G>A
c.1560G>A (p.Leu520=)
c.954G>A (p.Leu318=)
c.1524G>A (p.Leu508=)
 gnomAD v4
18g.57674980A>CCA402561683ATP8B1c.1673T>G (p.Leu558Arg)
c.1538T>G
c.1559T>G (p.Leu520Arg)
c.953T>G (p.Leu318Arg)
c.1523T>G (p.Leu508Arg)
 gnomAD v4
18g.57674980A>GCA402561687ATP8B1c.1673T>C (p.Leu558Pro)
c.1538T>C
c.1559T>C (p.Leu520Pro)
c.953T>C (p.Leu318Pro)
c.1523T>C (p.Leu508Pro)
18g.57674980A>TCA402561684ATP8B1c.1673T>A (p.Leu558Gln)
c.1538T>A
c.1559T>A (p.Leu520Gln)
c.953T>A (p.Leu318Gln)
c.1523T>A (p.Leu508Gln)
18g.57674981G>ACA504021315ATP8B1c.1672C>T (p.Leu558=)
c.1537C>T
c.1558C>T (p.Leu520=)
c.952C>T (p.Leu318=)
c.1522C>T (p.Leu508=)
18g.57674981G>CCA402561689ATP8B1c.1672C>G (p.Leu558Val)
c.1537C>G
c.1558C>G (p.Leu520Val)
c.952C>G (p.Leu318Val)
c.1522C>G (p.Leu508Val)
18g.57674981G>TCA402561693ATP8B1c.1672C>A (p.Leu558Met)
c.1537C>A
c.1558C>A (p.Leu520Met)
c.952C>A (p.Leu318Met)
c.1522C>A (p.Leu508Met)
18g.57674984_57674996delCA2641954492ATP8B1c.1660_1672del (p.Asp554TrpfsTer2)
c.1525_1537del
c.1546_1558del (p.Asp516TrpfsTer2)
c.940_952del (p.Asp314TrpfsTer2)
c.1510_1522del (p.Asp504TrpfsTer2)
 gnomAD v4
18g.57674982G>ACA504021319ATP8B1c.1671C>T (p.Ala557=)
c.1536C>T
c.1557C>T (p.Ala519=)
c.951C>T (p.Ala317=)
c.1521C>T (p.Ala507=)
 ClinVar
18g.57674982G>CCA504021316ATP8B1c.1671C>G (p.Ala557=)
c.1536C>G
c.1557C>G (p.Ala519=)
c.951C>G (p.Ala317=)
c.1521C>G (p.Ala507=)
18g.57674982G=CA2306103189ATP8B1c.1671C= (p.Ala557=)
c.1536C=
c.1557C= (p.Ala519=)
c.951C= (p.Ala317=)
c.1521C= (p.Ala507=)
18g.57674982G>TCA504021317ATP8B1c.1671C>A (p.Ala557=)
c.1536C>A
c.1557C>A (p.Ala519=)
c.951C>A (p.Ala317=)
c.1521C>A (p.Ala507=)
 ClinVar dbSNP
18g.57674983G>ACA8974500ATP8B1c.1670C>T (p.Ala557Val)
c.1535C>T
c.1556C>T (p.Ala519Val)
c.950C>T (p.Ala317Val)
c.1520C>T (p.Ala507Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.57674983G>CCA402561704ATP8B1c.1670C>G (p.Ala557Gly)
c.1535C>G
c.1556C>G (p.Ala519Gly)
c.950C>G (p.Ala317Gly)
c.1520C>G (p.Ala507Gly)
 dbSNP gnomAD v4
18g.57674983G=CA2306103190ATP8B1c.1670C= (p.Ala557=)
c.1535C=
c.1556C= (p.Ala519=)
c.950C= (p.Ala317=)
c.1520C= (p.Ala507=)
18g.57674983G>TCA402561707ATP8B1c.1670C>A (p.Ala557Asp)
c.1535C>A
c.1556C>A (p.Ala519Asp)
c.950C>A (p.Ala317Asp)
c.1520C>A (p.Ala507Asp)
 gnomAD v4
18g.57674984C>ACA8974501ATP8B1c.1669G>T (p.Ala557Ser)
c.1534G>T
c.1555G>T (p.Ala519Ser)
c.949G>T (p.Ala317Ser)
c.1519G>T (p.Ala507Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.57674984C=CA2306103191ATP8B1c.1669G= (p.Ala557=)
c.1534G=
c.1555G= (p.Ala519=)
c.949G= (p.Ala317=)
c.1519G= (p.Ala507=)
18g.57674984C>GCA402561709ATP8B1c.1669G>C (p.Ala557Pro)
c.1534G>C
c.1555G>C (p.Ala519Pro)
c.949G>C (p.Ala317Pro)
c.1519G>C (p.Ala507Pro)
18g.57674984C>TCA402561712ATP8B1c.1669G>A (p.Ala557Thr)
c.1534G>A
c.1555G>A (p.Ala519Thr)
c.949G>A (p.Ala317Thr)
c.1519G>A (p.Ala507Thr)
18g.57674985A>CCA504021326ATP8B1c.1668T>G (p.Gly556=)
c.1533T>G
c.1554T>G (p.Gly518=)
c.948T>G (p.Gly316=)
c.1518T>G (p.Gly506=)
18g.57674985A>GCA504021327ATP8B1c.1668T>C (p.Gly556=)
c.1533T>C
c.1554T>C (p.Gly518=)
c.948T>C (p.Gly316=)
c.1518T>C (p.Gly506=)
18g.57674985A>TCA504021329ATP8B1c.1668T>A (p.Gly556=)
c.1533T>A
c.1554T>A (p.Gly518=)
c.948T>A (p.Gly316=)
c.1518T>A (p.Gly506=)
18g.57674985_57674986delinsACCA2306103192ATP8B1c.1667_1668delinsGT (p.Gly556=)
c.1532_1533delinsGT
c.1553_1554delinsGT (p.Gly518=)
c.947_948delinsGT (p.Gly316=)
c.1517_1518delinsGT (p.Gly506=)
18g.57674986C>ACA402561720ATP8B1c.1667G>T (p.Gly556Val)
c.1532G>T
c.1553G>T (p.Gly518Val)
c.947G>T (p.Gly316Val)
c.1517G>T (p.Gly506Val)
18g.57674986C=CA2306103193ATP8B1c.1667G= (p.Gly556=)
c.1532G=
c.1553G= (p.Gly518=)
c.947G= (p.Gly316=)
c.1517G= (p.Gly506=)
18g.57674986C>GCA402561722ATP8B1c.1667G>C (p.Gly556Ala)
c.1532G>C
c.1553G>C (p.Gly518Ala)
c.947G>C (p.Gly316Ala)
c.1517G>C (p.Gly506Ala)
18g.57674986C>TCA8974503ATP8B1c.1667G>A (p.Gly556Asp)
c.1532G>A
c.1553G>A (p.Gly518Asp)
c.947G>A (p.Gly316Asp)
c.1517G>A (p.Gly506Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.57674987delCA8974502ATP8B1c.1667del (p.Gly556ValfsTer4)
c.1532del
c.1553del (p.Gly518ValfsTer4)
c.947del (p.Gly316ValfsTer4)
c.1517del (p.Gly506ValfsTer4)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.57674987C>ACA402561735ATP8B1c.1666G>T (p.Gly556Cys)
c.1531G>T
c.1552G>T (p.Gly518Cys)
c.946G>T (p.Gly316Cys)
c.1516G>T (p.Gly506Cys)
18g.57674987C=CA2306103194ATP8B1c.1666G= (p.Gly556=)
c.1531G=
c.1552G= (p.Gly518=)
c.946G= (p.Gly316=)
c.1516G= (p.Gly506=)
18g.57674987C>GCA8974504ATP8B1c.1666G>C (p.Gly556Arg)
c.1531G>C
c.1552G>C (p.Gly518Arg)
c.946G>C (p.Gly316Arg)
c.1516G>C (p.Gly506Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.57674987C>TCA402561742ATP8B1c.1666G>A (p.Gly556Ser)
c.1531G>A
c.1552G>A (p.Gly518Ser)
c.946G>A (p.Gly316Ser)
c.1516G>A (p.Gly506Ser)
18g.57674988T>ACA402561746ATP8B1c.1665A>T (p.Glu555Asp)
c.1530A>T
c.1551A>T (p.Glu517Asp)
c.945A>T (p.Glu315Asp)
c.1515A>T (p.Glu505Asp)
18g.57674988T>CCA504021336ATP8B1c.1665A>G (p.Glu555=)
c.1530A>G
c.1551A>G (p.Glu517=)
c.945A>G (p.Glu315=)
c.1515A>G (p.Glu505=)
18g.57674988T>GCA402561748ATP8B1c.1665A>C (p.Glu555Asp)
c.1530A>C
c.1551A>C (p.Glu517Asp)
c.945A>C (p.Glu315Asp)
c.1515A>C (p.Glu505Asp)
18g.57674989T>ACA402561752ATP8B1c.1664A>T (p.Glu555Val)
c.1529A>T
c.1550A>T (p.Glu517Val)
c.944A>T (p.Glu315Val)
c.1514A>T (p.Glu505Val)
18g.57674989T>CCA402561753ATP8B1c.1664A>G (p.Glu555Gly)
c.1529A>G
c.1550A>G (p.Glu517Gly)
c.944A>G (p.Glu315Gly)
c.1514A>G (p.Glu505Gly)
18g.57674989T>GCA402561754ATP8B1c.1664A>C (p.Glu555Ala)
c.1529A>C
c.1550A>C (p.Glu517Ala)
c.944A>C (p.Glu315Ala)
c.1514A>C (p.Glu505Ala)
18g.57674990C>ACA402561757ATP8B1c.1663G>T (p.Glu555Ter)
c.1528G>T
c.1549G>T (p.Glu517Ter)
c.943G>T (p.Glu315Ter)
c.1513G>T (p.Glu505Ter)
18g.57674990C>GCA402561760ATP8B1c.1663G>C (p.Glu555Gln)
c.1528G>C
c.1549G>C (p.Glu517Gln)
c.943G>C (p.Glu315Gln)
c.1513G>C (p.Glu505Gln)
18g.57674990C>TCA402561765ATP8B1c.1663G>A (p.Glu555Lys)
c.1528G>A
c.1549G>A (p.Glu517Lys)
c.943G>A (p.Glu315Lys)
c.1513G>A (p.Glu505Lys)
18g.57674991A>CCA402561780ATP8B1c.1662T>G (p.Asp554Glu)
c.1527T>G
c.1548T>G (p.Asp516Glu)
c.942T>G (p.Asp314Glu)
c.1512T>G (p.Asp504Glu)
 gnomAD v4 COSMIC
18g.57674991A>GCA504021341ATP8B1c.1662T>C (p.Asp554=)
c.1527T>C
c.1548T>C (p.Asp516=)
c.942T>C (p.Asp314=)
c.1512T>C (p.Asp504=)
 gnomAD v4
18g.57674991A>TCA402561797ATP8B1c.1662T>A (p.Asp554Glu)
c.1527T>A
c.1548T>A (p.Asp516Glu)
c.942T>A (p.Asp314Glu)
c.1512T>A (p.Asp504Glu)
18g.57674992T>ACA402561812ATP8B1c.1661A>T (p.Asp554Val)
c.1526A>T
c.1547A>T (p.Asp516Val)
c.941A>T (p.Asp314Val)
c.1511A>T (p.Asp504Val)
18g.57674992T>CCA402561816ATP8B1c.1661A>G (p.Asp554Gly)
c.1526A>G
c.1547A>G (p.Asp516Gly)
c.941A>G (p.Asp314Gly)
c.1511A>G (p.Asp504Gly)
18g.57674992T>GCA402561804ATP8B1c.1661A>C (p.Asp554Ala)
c.1526A>C
c.1547A>C (p.Asp516Ala)
c.941A>C (p.Asp314Ala)
c.1511A>C (p.Asp504Ala)
18g.57674993C>ACA402561827ATP8B1c.1660G>T (p.Asp554Tyr)
c.1525G>T
c.1546G>T (p.Asp516Tyr)
c.940G>T (p.Asp314Tyr)
c.1510G>T (p.Asp504Tyr)
18g.57674993C=CA2306103195ATP8B1c.1660G= (p.Asp554=)
c.1525G=
c.1546G= (p.Asp516=)
c.940G= (p.Asp314=)
c.1510G= (p.Asp504=)
18g.57674993C>GCA402561820ATP8B1c.1660G>C (p.Asp554His)
c.1525G>C
c.1546G>C (p.Asp516His)
c.940G>C (p.Asp314His)
c.1510G>C (p.Asp504His)
18g.57674993C>TCA340666ATP8B1c.1660G>A (p.Asp554Asn)
c.1525G>A
c.1546G>A (p.Asp516Asn)
c.940G>A (p.Asp314Asn)
c.1510G>A (p.Asp504Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.57674994G>ACA8974505ATP8B1c.1659C>T (p.Pro553=)
c.1524C>T
c.1545C>T (p.Pro515=)
c.939C>T (p.Pro313=)
c.1509C>T (p.Pro503=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.57674994G>CCA504021346ATP8B1c.1659C>G (p.Pro553=)
c.1524C>G
c.1545C>G (p.Pro515=)
c.939C>G (p.Pro313=)
c.1509C>G (p.Pro503=)
 dbSNP
18g.57674994G=CA2306103196ATP8B1c.1659C= (p.Pro553=)
c.1524C=
c.1545C= (p.Pro515=)
c.939C= (p.Pro313=)
c.1509C= (p.Pro503=)
18g.57674994G>TCA504021347ATP8B1c.1659C>A (p.Pro553=)
c.1524C>A
c.1545C>A (p.Pro515=)
c.939C>A (p.Pro313=)
c.1509C>A (p.Pro503=)
 gnomAD v4
18g.57674995G>ACA402561838ATP8B1c.1658C>T (p.Pro553Leu)
c.1523C>T
c.1544C>T (p.Pro515Leu)
c.938C>T (p.Pro313Leu)
c.1508C>T (p.Pro503Leu)
18g.57674995G>CCA402561840ATP8B1c.1658C>G (p.Pro553Arg)
c.1523C>G
c.1544C>G (p.Pro515Arg)
c.938C>G (p.Pro313Arg)
c.1508C>G (p.Pro503Arg)
18g.57674995G>TCA402561844ATP8B1c.1658C>A (p.Pro553His)
c.1523C>A
c.1544C>A (p.Pro515His)
c.938C>A (p.Pro313His)
c.1508C>A (p.Pro503His)
18g.57674996G>ACA402561850ATP8B1c.1657C>T (p.Pro553Ser)
c.1522C>T
c.1543C>T (p.Pro515Ser)
c.937C>T (p.Pro313Ser)
c.1507C>T (p.Pro503Ser)
18g.57674996G>CCA402561854ATP8B1c.1657C>G (p.Pro553Ala)
c.1522C>G
c.1543C>G (p.Pro515Ala)
c.937C>G (p.Pro313Ala)
c.1507C>G (p.Pro503Ala)
18g.57674996G>TCA402561859ATP8B1c.1657C>A (p.Pro553Thr)
c.1522C>A
c.1543C>A (p.Pro515Thr)
c.937C>A (p.Pro313Thr)
c.1507C>A (p.Pro503Thr)
18g.57674997A=CA2306103197ATP8B1c.1656T= (p.Ser552=)
c.1521T=
c.1542T= (p.Ser514=)
c.936T= (p.Ser312=)
c.1506T= (p.Ser502=)
18g.57674997A>CCA504021350ATP8B1c.1656T>G (p.Ser552=)
c.1521T>G
c.1542T>G (p.Ser514=)
c.936T>G (p.Ser312=)
c.1506T>G (p.Ser502=)
18g.57674997A>GCA504021352ATP8B1c.1656T>C (p.Ser552=)
c.1521T>C
c.1542T>C (p.Ser514=)
c.936T>C (p.Ser312=)
c.1506T>C (p.Ser502=)
 dbSNP
18g.57674997A>TCA504021353ATP8B1c.1656T>A (p.Ser552=)
c.1521T>A
c.1542T>A (p.Ser514=)
c.936T>A (p.Ser312=)
c.1506T>A (p.Ser502=)
18g.57674998G>ACA402561865ATP8B1c.1655C>T (p.Ser552Phe)
c.1520C>T
c.1541C>T (p.Ser514Phe)
c.935C>T (p.Ser312Phe)
c.1505C>T (p.Ser502Phe)
18g.57674998G>CCA402561869ATP8B1c.1655C>G (p.Ser552Cys)
c.1520C>G
c.1541C>G (p.Ser514Cys)
c.935C>G (p.Ser312Cys)
c.1505C>G (p.Ser502Cys)
18g.57674998G>TCA402561870ATP8B1c.1655C>A (p.Ser552Tyr)
c.1520C>A
c.1541C>A (p.Ser514Tyr)
c.935C>A (p.Ser312Tyr)
c.1505C>A (p.Ser502Tyr)

Number of alleles fetched