Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
18g.57674999A>CCA402561899ATP8B1c.1654T>G (p.Ser552Ala)
c.1519T>G
c.1540T>G (p.Ser514Ala)
c.934T>G (p.Ser312Ala)
c.1504T>G (p.Ser502Ala)
18g.57674999A>GCA402561872ATP8B1c.1654T>C (p.Ser552Pro)
c.1519T>C
c.1540T>C (p.Ser514Pro)
c.934T>C (p.Ser312Pro)
c.1504T>C (p.Ser502Pro)
18g.57674999A>TCA402561875ATP8B1c.1654T>A (p.Ser552Thr)
c.1519T>A
c.1540T>A (p.Ser514Thr)
c.934T>A (p.Ser312Thr)
c.1504T>A (p.Ser502Thr)
18g.57675000G>ACA504021356ATP8B1c.1653C>T (p.Ala551=)
c.1518C>T
c.1539C>T (p.Ala513=)
c.933C>T (p.Ala311=)
c.1503C>T (p.Ala501=)
18g.57675000G>CCA504021357ATP8B1c.1653C>G (p.Ala551=)
c.1518C>G
c.1539C>G (p.Ala513=)
c.933C>G (p.Ala311=)
c.1503C>G (p.Ala501=)
18g.57675000G>TCA504021359ATP8B1c.1653C>A (p.Ala551=)
c.1518C>A
c.1539C>A (p.Ala513=)
c.933C>A (p.Ala311=)
c.1503C>A (p.Ala501=)
18g.57675001G>ACA402561902ATP8B1c.1652C>T (p.Ala551Val)
c.1517C>T
c.1538C>T (p.Ala513Val)
c.932C>T (p.Ala311Val)
c.1502C>T (p.Ala501Val)
 dbSNP gnomAD v3 gnomAD v4
18g.57675001G>CCA402561910ATP8B1c.1652C>G (p.Ala551Gly)
c.1517C>G
c.1538C>G (p.Ala513Gly)
c.932C>G (p.Ala311Gly)
c.1502C>G (p.Ala501Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.57675001G=CA2306103198ATP8B1c.1652C= (p.Ala551=)
c.1517C=
c.1538C= (p.Ala513=)
c.932C= (p.Ala311=)
c.1502C= (p.Ala501=)
18g.57675001G>TCA402561914ATP8B1c.1652C>A (p.Ala551Asp)
c.1517C>A
c.1538C>A (p.Ala513Asp)
c.932C>A (p.Ala311Asp)
c.1502C>A (p.Ala501Asp)
 dbSNP gnomAD v3 gnomAD v4
18g.57675002C>ACA402561915ATP8B1c.1651G>T (p.Ala551Ser)
c.1516G>T
c.1537G>T (p.Ala513Ser)
c.931G>T (p.Ala311Ser)
c.1501G>T (p.Ala501Ser)
18g.57675002C=CA2306103199ATP8B1c.1651G= (p.Ala551=)
c.1516G=
c.1537G= (p.Ala513=)
c.931G= (p.Ala311=)
c.1501G= (p.Ala501=)
18g.57675002C>GCA402561916ATP8B1c.1651G>C (p.Ala551Pro)
c.1516G>C
c.1537G>C (p.Ala513Pro)
c.931G>C (p.Ala311Pro)
c.1501G>C (p.Ala501Pro)
 dbSNP gnomAD v3 gnomAD v4
18g.57675002C>TCA402561917ATP8B1c.1651G>A (p.Ala551Thr)
c.1516G>A
c.1537G>A (p.Ala513Thr)
c.931G>A (p.Ala311Thr)
c.1501G>A (p.Ala501Thr)
18g.57675003T>ACA504021363ATP8B1c.1650A>T (p.Ala550=)
c.1515A>T
c.1536A>T (p.Ala512=)
c.930A>T (p.Ala310=)
c.1500A>T (p.Ala500=)
18g.57675003T>CCA504021364ATP8B1c.1650A>G (p.Ala550=)
c.1515A>G
c.1536A>G (p.Ala512=)
c.930A>G (p.Ala310=)
c.1500A>G (p.Ala500=)
 dbSNP
18g.57675003T>GCA504021365ATP8B1c.1650A>C (p.Ala550=)
c.1515A>C
c.1536A>C (p.Ala512=)
c.930A>C (p.Ala310=)
c.1500A>C (p.Ala500=)
18g.57675003T=CA2306103200ATP8B1c.1650A= (p.Ala550=)
c.1515A=
c.1536A= (p.Ala512=)
c.930A= (p.Ala310=)
c.1500A= (p.Ala500=)
18g.57675004G>ACA402561922ATP8B1c.1649C>T (p.Ala550Val)
c.1514C>T
c.1535C>T (p.Ala512Val)
c.929C>T (p.Ala310Val)
c.1499C>T (p.Ala500Val)
18g.57675004G>CCA402561925ATP8B1c.1649C>G (p.Ala550Gly)
c.1514C>G
c.1535C>G (p.Ala512Gly)
c.929C>G (p.Ala310Gly)
c.1499C>G (p.Ala500Gly)
18g.57675004G>TCA402561928ATP8B1c.1649C>A (p.Ala550Glu)
c.1514C>A
c.1535C>A (p.Ala512Glu)
c.929C>A (p.Ala310Glu)
c.1499C>A (p.Ala500Glu)
18g.57675005C>ACA402561936ATP8B1c.1648G>T (p.Ala550Ser)
c.1513G>T
c.1534G>T (p.Ala512Ser)
c.928G>T (p.Ala310Ser)
c.1498G>T (p.Ala500Ser)
18g.57675005C>GCA402561940ATP8B1c.1648G>C (p.Ala550Pro)
c.1513G>C
c.1534G>C (p.Ala512Pro)
c.928G>C (p.Ala310Pro)
c.1498G>C (p.Ala500Pro)
18g.57675005C>TCA402561941ATP8B1c.1648G>A (p.Ala550Thr)
c.1513G>A
c.1534G>A (p.Ala512Thr)
c.928G>A (p.Ala310Thr)
c.1498G>A (p.Ala500Thr)
18g.57675006C>ACA402561943ATP8B1c.1647G>T (p.Gln549His)
c.1512G>T
c.1533G>T (p.Gln511His)
c.927G>T (p.Gln309His)
c.1497G>T (p.Gln499His)
18g.57675006C=CA2306103201ATP8B1c.1647G= (p.Gln549=)
c.1512G=
c.1533G= (p.Gln511=)
c.927G= (p.Gln309=)
c.1497G= (p.Gln499=)
18g.57675006C>GCA402561942ATP8B1c.1647G>C (p.Gln549His)
c.1512G>C
c.1533G>C (p.Gln511His)
c.927G>C (p.Gln309His)
c.1497G>C (p.Gln499His)
 gnomAD v4
18g.57675006C>TCA504021370ATP8B1c.1647G>A (p.Gln549=)
c.1512G>A
c.1533G>A (p.Gln511=)
c.927G>A (p.Gln309=)
c.1497G>A (p.Gln499=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.57675007T>ACA402561946ATP8B1c.1646A>T (p.Gln549Leu)
c.1511A>T
c.1532A>T (p.Gln511Leu)
c.926A>T (p.Gln309Leu)
c.1496A>T (p.Gln499Leu)
18g.57675007T>CCA402561950ATP8B1c.1646A>G (p.Gln549Arg)
c.1511A>G
c.1532A>G (p.Gln511Arg)
c.926A>G (p.Gln309Arg)
c.1496A>G (p.Gln499Arg)
18g.57675007T>GCA402561953ATP8B1c.1646A>C (p.Gln549Pro)
c.1511A>C
c.1532A>C (p.Gln511Pro)
c.926A>C (p.Gln309Pro)
c.1496A>C (p.Gln499Pro)
18g.57675008G>ACA402561958ATP8B1c.1645C>T (p.Gln549Ter)
c.1510C>T
c.1531C>T (p.Gln511Ter)
c.925C>T (p.Gln309Ter)
c.1495C>T (p.Gln499Ter)
18g.57675008G>CCA402561962ATP8B1c.1645C>G (p.Gln549Glu)
c.1510C>G
c.1531C>G (p.Gln511Glu)
c.925C>G (p.Gln309Glu)
c.1495C>G (p.Gln499Glu)
18g.57675008G>TCA402561965ATP8B1c.1645C>A (p.Gln549Lys)
c.1510C>A
c.1531C>A (p.Gln511Lys)
c.925C>A (p.Gln309Lys)
c.1495C>A (p.Gln499Lys)
18g.57675009G>ACA504021372ATP8B1c.1644C>T (p.Tyr548=)
c.1509C>T
c.1530C>T (p.Tyr510=)
c.924C>T (p.Tyr308=)
c.1494C>T (p.Tyr498=)
 ClinVar gnomAD v4
18g.57675009G>CCA402561970ATP8B1c.1644C>G (p.Tyr548Ter)
c.1509C>G
c.1530C>G (p.Tyr510Ter)
c.924C>G (p.Tyr308Ter)
c.1494C>G (p.Tyr498Ter)
18g.57675009G>TCA402561971ATP8B1c.1644C>A (p.Tyr548Ter)
c.1509C>A
c.1530C>A (p.Tyr510Ter)
c.924C>A (p.Tyr308Ter)
c.1494C>A (p.Tyr498Ter)
 gnomAD v4
18g.57675010T>ACA402561972ATP8B1c.1643A>T (p.Tyr548Phe)
c.1508A>T
c.1529A>T (p.Tyr510Phe)
c.923A>T (p.Tyr308Phe)
c.1493A>T (p.Tyr498Phe)
18g.57675010T>CCA402561973ATP8B1c.1643A>G (p.Tyr548Cys)
c.1508A>G
c.1529A>G (p.Tyr510Cys)
c.923A>G (p.Tyr308Cys)
c.1493A>G (p.Tyr498Cys)
18g.57675010T>GCA402561975ATP8B1c.1643A>C (p.Tyr548Ser)
c.1508A>C
c.1529A>C (p.Tyr510Ser)
c.923A>C (p.Tyr308Ser)
c.1493A>C (p.Tyr498Ser)
 dbSNP
18g.57675010T=CA2306103202ATP8B1c.1643A= (p.Tyr548=)
c.1508A=
c.1529A= (p.Tyr510=)
c.923A= (p.Tyr308=)
c.1493A= (p.Tyr498=)
18g.57675011A>CCA402561979ATP8B1c.1642T>G (p.Tyr548Asp)
c.1507T>G
c.1528T>G (p.Tyr510Asp)
c.922T>G (p.Tyr308Asp)
c.1492T>G (p.Tyr498Asp)
18g.57675011A>GCA402561980ATP8B1c.1642T>C (p.Tyr548His)
c.1507T>C
c.1528T>C (p.Tyr510His)
c.922T>C (p.Tyr308His)
c.1492T>C (p.Tyr498His)
18g.57675011A>TCA402561981ATP8B1c.1642T>A (p.Tyr548Asn)
c.1507T>A
c.1528T>A (p.Tyr510Asn)
c.922T>A (p.Tyr308Asn)
c.1492T>A (p.Tyr498Asn)
18g.57675012G>ACA504021378ATP8B1c.1641C>T (p.Asn547=)
c.1506C>T
c.1527C>T (p.Asn509=)
c.921C>T (p.Asn307=)
c.1491C>T (p.Asn497=)
18g.57675012G>CCA402561984ATP8B1c.1641C>G (p.Asn547Lys)
c.1506C>G
c.1527C>G (p.Asn509Lys)
c.921C>G (p.Asn307Lys)
c.1491C>G (p.Asn497Lys)
18g.57675012G>TCA402561982ATP8B1c.1641C>A (p.Asn547Lys)
c.1506C>A
c.1527C>A (p.Asn509Lys)
c.921C>A (p.Asn307Lys)
c.1491C>A (p.Asn497Lys)
18g.57675013T>ACA402561989ATP8B1c.1640A>T (p.Asn547Ile)
c.1505A>T
c.1526A>T (p.Asn509Ile)
c.920A>T (p.Asn307Ile)
c.1490A>T (p.Asn497Ile)
18g.57675013T>CCA402561994ATP8B1c.1640A>G (p.Asn547Ser)
c.1505A>G
c.1526A>G (p.Asn509Ser)
c.920A>G (p.Asn307Ser)
c.1490A>G (p.Asn497Ser)
18g.57675013T>GCA402561995ATP8B1c.1640A>C (p.Asn547Thr)
c.1505A>C
c.1526A>C (p.Asn509Thr)
c.920A>C (p.Asn307Thr)
c.1490A>C (p.Asn497Thr)
 dbSNP
18g.57675013T=CA2306103203ATP8B1c.1640A= (p.Asn547=)
c.1505A=
c.1526A= (p.Asn509=)
c.920A= (p.Asn307=)
c.1490A= (p.Asn497=)
18g.57675014T>ACA402561996ATP8B1c.1639A>T (p.Asn547Tyr)
c.1504A>T
c.1525A>T (p.Asn509Tyr)
c.919A>T (p.Asn307Tyr)
c.1489A>T (p.Asn497Tyr)
18g.57675014T>CCA402561997ATP8B1c.1639A>G (p.Asn547Asp)
c.1504A>G
c.1525A>G (p.Asn509Asp)
c.919A>G (p.Asn307Asp)
c.1489A>G (p.Asn497Asp)
18g.57675014T>GCA402561999ATP8B1c.1639A>C (p.Asn547His)
c.1504A>C
c.1525A>C (p.Asn509His)
c.919A>C (p.Asn307His)
c.1489A>C (p.Asn497His)
18g.57675015G>ACA504021382ATP8B1c.1638C>T (p.Leu546=)
c.1503C>T
c.1524C>T (p.Leu508=)
c.918C>T (p.Leu306=)
c.1488C>T (p.Leu496=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.57675015G>CCA504021383ATP8B1c.1638C>G (p.Leu546=)
c.1503C>G
c.1524C>G (p.Leu508=)
c.918C>G (p.Leu306=)
c.1488C>G (p.Leu496=)
18g.57675015G=CA2306103204ATP8B1c.1638C= (p.Leu546=)
c.1503C=
c.1524C= (p.Leu508=)
c.918C= (p.Leu306=)
c.1488C= (p.Leu496=)
18g.57675015G>TCA504021384ATP8B1c.1638C>A (p.Leu546=)
c.1503C>A
c.1524C>A (p.Leu508=)
c.918C>A (p.Leu306=)
c.1488C>A (p.Leu496=)
18g.57675016A>CCA402562005ATP8B1c.1637T>G (p.Leu546Arg)
c.1502T>G
c.1523T>G (p.Leu508Arg)
c.917T>G (p.Leu306Arg)
c.1487T>G (p.Leu496Arg)
18g.57675016A>GCA402562009ATP8B1c.1637T>C (p.Leu546Pro)
c.1502T>C
c.1523T>C (p.Leu508Pro)
c.917T>C (p.Leu306Pro)
c.1487T>C (p.Leu496Pro)
18g.57675016A>TCA402562024ATP8B1c.1637T>A (p.Leu546His)
c.1502T>A
c.1523T>A (p.Leu508His)
c.917T>A (p.Leu306His)
c.1487T>A (p.Leu496His)
18g.57675017G>ACA402562027ATP8B1c.1636C>T (p.Leu546Phe)
c.1501C>T
c.1522C>T (p.Leu508Phe)
c.916C>T (p.Leu306Phe)
c.1486C>T (p.Leu496Phe)
18g.57675017G>CCA402562029ATP8B1c.1636C>G (p.Leu546Val)
c.1501C>G
c.1522C>G (p.Leu508Val)
c.916C>G (p.Leu306Val)
c.1486C>G (p.Leu496Val)
18g.57675017G>TCA402562031ATP8B1c.1636C>A (p.Leu546Ile)
c.1501C>A
c.1522C>A (p.Leu508Ile)
c.916C>A (p.Leu306Ile)
c.1486C>A (p.Leu496Ile)
18g.57675018C>ACA8974506ATP8B1c.1635G>T (p.Gln545His)
c.1500G>T
c.1521G>T (p.Gln507His)
c.915G>T (p.Gln305His)
c.1485G>T (p.Gln495His)
 dbSNP ExAC gnomAD v2
18g.57675018C=CA2306103205ATP8B1c.1635G= (p.Gln545=)
c.1500G=
c.1521G= (p.Gln507=)
c.915G= (p.Gln305=)
c.1485G= (p.Gln495=)
18g.57675018C>GCA402562035ATP8B1c.1635G>C (p.Gln545His)
c.1500G>C
c.1521G>C (p.Gln507His)
c.915G>C (p.Gln305His)
c.1485G>C (p.Gln495His)
18g.57675018C>TCA504021388ATP8B1c.1635G>A (p.Gln545=)
c.1500G>A
c.1521G>A (p.Gln507=)
c.915G>A (p.Gln305=)
c.1485G>A (p.Gln495=)
18g.57675019T>ACA402562043ATP8B1c.1634A>T (p.Gln545Leu)
c.1499A>T
c.1520A>T (p.Gln507Leu)
c.914A>T (p.Gln305Leu)
c.1484A>T (p.Gln495Leu)
18g.57675019T>CCA402562047ATP8B1c.1634A>G (p.Gln545Arg)
c.1499A>G
c.1520A>G (p.Gln507Arg)
c.914A>G (p.Gln305Arg)
c.1484A>G (p.Gln495Arg)
18g.57675019T>GCA402562040ATP8B1c.1634A>C (p.Gln545Pro)
c.1499A>C
c.1520A>C (p.Gln507Pro)
c.914A>C (p.Gln305Pro)
c.1484A>C (p.Gln495Pro)
18g.57675020G>ACA402562052ATP8B1c.1633C>T (p.Gln545Ter)
c.1498C>T
c.1519C>T (p.Gln507Ter)
c.913C>T (p.Gln305Ter)
c.1483C>T (p.Gln495Ter)
18g.57675020G>CCA402562050ATP8B1c.1633C>G (p.Gln545Glu)
c.1498C>G
c.1519C>G (p.Gln507Glu)
c.913C>G (p.Gln305Glu)
c.1483C>G (p.Gln495Glu)
18g.57675020G=CA2306103206ATP8B1c.1633C= (p.Gln545=)
c.1498C=
c.1519C= (p.Gln507=)
c.913C= (p.Gln305=)
c.1483C= (p.Gln495=)
18g.57675020G>TCA10606192ATP8B1c.1633C>A (p.Gln545Lys)
c.1498C>A
c.1519C>A (p.Gln507Lys)
c.913C>A (p.Gln305Lys)
c.1483C>A (p.Gln495Lys)
 ClinVar dbSNP gnomAD v4
18g.57675021A>CCA504021389ATP8B1c.1632T>G (p.Gly544=)
c.1497T>G
c.1518T>G (p.Gly506=)
c.912T>G (p.Gly304=)
c.1482T>G (p.Gly494=)
18g.57675021A>GCA504021391ATP8B1c.1632T>C (p.Gly544=)
c.1497T>C
c.1518T>C (p.Gly506=)
c.912T>C (p.Gly304=)
c.1482T>C (p.Gly494=)
18g.57675021A>TCA504021392ATP8B1c.1632T>A (p.Gly544=)
c.1497T>A
c.1518T>A (p.Gly506=)
c.912T>A (p.Gly304=)
c.1482T>A (p.Gly494=)
 gnomAD v4
18g.57675022C>ACA402562055ATP8B1c.1631G>T (p.Gly544Val)
c.1496G>T
c.1517G>T (p.Gly506Val)
c.911G>T (p.Gly304Val)
c.1481G>T (p.Gly494Val)
18g.57675022C>GCA402562059ATP8B1c.1631G>C (p.Gly544Ala)
c.1496G>C
c.1517G>C (p.Gly506Ala)
c.911G>C (p.Gly304Ala)
c.1481G>C (p.Gly494Ala)
18g.57675022C>TCA402562064ATP8B1c.1631G>A (p.Gly544Asp)
c.1496G>A
c.1517G>A (p.Gly506Asp)
c.911G>A (p.Gly304Asp)
c.1481G>A (p.Gly494Asp)
 gnomAD v4
18g.57675023C>ACA402562068ATP8B1c.1631-1G>T (n.1631-1G>T)
c.1495G>T
c.1517-1G>T (n.1517-1G>T)
c.911-1G>T (n.911-1G>T)
c.1481-1G>T (n.1481-1G>T)
18g.57675023C=CA2306103207ATP8B1c.1631-1G= (n.1631-1G=)
c.1495G=
c.1517-1G= (n.1517-1G=)
c.911-1G= (n.911-1G=)
c.1481-1G= (n.1481-1G=)
18g.57675023C>GCA402562072ATP8B1c.1631-1G>C (n.1631-1G>C)
c.1495G>C
c.1517-1G>C (n.1517-1G>C)
c.911-1G>C (n.911-1G>C)
c.1481-1G>C (n.1481-1G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.57675023C>TCA402562077ATP8B1c.1631-1G>A (n.1631-1G>A)
c.1495G>A
c.1517-1G>A (n.1517-1G>A)
c.911-1G>A (n.911-1G>A)
c.1481-1G>A (n.1481-1G>A)
18g.57675024T>ACA402562080ATP8B1c.1631-2A>T (n.1631-2A>T)
c.1494A>T
c.1517-2A>T (n.1517-2A>T)
c.911-2A>T (n.911-2A>T)
c.1481-2A>T (n.1481-2A>T)
18g.57675024T>CCA402562084ATP8B1c.1631-2A>G (n.1631-2A>G)
c.1494A>G
c.1517-2A>G (n.1517-2A>G)
c.911-2A>G (n.911-2A>G)
c.1481-2A>G (n.1481-2A>G)
18g.57675024T>GCA402562087ATP8B1c.1631-2A>C (n.1631-2A>C)
c.1494A>C
c.1517-2A>C (n.1517-2A>C)
c.911-2A>C (n.911-2A>C)
c.1481-2A>C (n.1481-2A>C)
18g.57675025A>CCA2812634497ATP8B1c.1631-3T>G (n.1631-3T>G)
c.1493T>G
c.1517-3T>G (n.1517-3T>G)
c.911-3T>G (n.911-3T>G)
c.1481-3T>G (n.1481-3T>G)
18g.57675026A=CA2306103208ATP8B1c.1631-4T= (n.1631-4T=)
c.1492T=
c.1517-4T= (n.1517-4T=)
c.911-4T= (n.911-4T=)
c.1481-4T= (n.1481-4T=)
18g.57675026A>GCA780829174ATP8B1c.1631-4T>C (n.1631-4T>C)
c.1492T>C
c.1517-4T>C (n.1517-4T>C)
c.911-4T>C (n.911-4T>C)
c.1481-4T>C (n.1481-4T>C)
 dbSNP gnomAD v3 gnomAD v4
18g.57675027C>ACA2306103210ATP8B1c.1631-5G>T (n.1631-5G>T)
c.1491G>T
c.1517-5G>T (n.1517-5G>T)
c.911-5G>T (n.911-5G>T)
c.1481-5G>T (n.1481-5G>T)
 dbSNP gnomAD v4
18g.57675027C=CA2306103209ATP8B1c.1631-5G= (n.1631-5G=)
c.1491G=
c.1517-5G= (n.1517-5G=)
c.911-5G= (n.911-5G=)
c.1481-5G= (n.1481-5G=)
18g.57675027C>TCA2641954493ATP8B1c.1631-5G>A (n.1631-5G>A)
c.1491G>A
c.1517-5G>A (n.1517-5G>A)
c.911-5G>A (n.911-5G>A)
c.1481-5G>A (n.1481-5G>A)
 gnomAD v4
18g.57675029A>GCA2641954494ATP8B1c.1631-7T>C (n.1631-7T>C)
c.1489T>C
c.1517-7T>C (n.1517-7T>C)
c.911-7T>C (n.911-7T>C)
c.1481-7T>C (n.1481-7T>C)
 ClinVar gnomAD v4
18g.57675032A=CA2306103211ATP8B1c.1631-10T= (n.1631-10T=)
c.1486T=
c.1517-10T= (n.1517-10T=)
c.911-10T= (n.911-10T=)
c.1481-10T= (n.1481-10T=)
18g.57675032A>GCA2641954495ATP8B1c.1631-10T>C (n.1631-10T>C)
c.1486T>C
c.1517-10T>C (n.1517-10T>C)
c.911-10T>C (n.911-10T>C)
c.1481-10T>C (n.1481-10T>C)
 gnomAD v4
18g.57675032A>TCA630396025ATP8B1c.1631-10T>A (n.1631-10T>A)
c.1486T>A
c.1517-10T>A (n.1517-10T>A)
c.911-10T>A (n.911-10T>A)
c.1481-10T>A (n.1481-10T>A)
 dbSNP gnomAD v2 gnomAD v4
18g.57675033A>CCA2735085070ATP8B1c.1631-11T>G (n.1631-11T>G)
c.1485T>G
c.1517-11T>G (n.1517-11T>G)
c.911-11T>G (n.911-11T>G)
c.1481-11T>G (n.1481-11T>G)
 dbSNP
18g.57675035C>ACA2641954496ATP8B1c.1631-13G>T (n.1631-13G>T)
c.1483G>T
c.1517-13G>T (n.1517-13G>T)
c.911-13G>T (n.911-13G>T)
c.1481-13G>T (n.1481-13G>T)
 gnomAD v4
18g.57675035C=CA2306103212ATP8B1c.1631-13G= (n.1631-13G=)
c.1483G=
c.1517-13G= (n.1517-13G=)
c.911-13G= (n.911-13G=)
c.1481-13G= (n.1481-13G=)
18g.57675035C>TCA8974507ATP8B1c.1631-13G>A (n.1631-13G>A)
c.1483G>A
c.1517-13G>A (n.1517-13G>A)
c.911-13G>A (n.911-13G>A)
c.1481-13G>A (n.1481-13G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.57675036G>ACA8974508ATP8B1c.1631-14C>T (n.1631-14C>T)
c.1482C>T
c.1517-14C>T (n.1517-14C>T)
c.911-14C>T (n.911-14C>T)
c.1481-14C>T (n.1481-14C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.57675036G>CCA2576663513ATP8B1c.1631-14C>G (n.1631-14C>G)
c.1482C>G
c.1517-14C>G (n.1517-14C>G)
c.911-14C>G (n.911-14C>G)
c.1481-14C>G (n.1481-14C>G)
18g.57675036G=CA2306103213ATP8B1c.1631-14C= (n.1631-14C=)
c.1482C=
c.1517-14C= (n.1517-14C=)
c.911-14C= (n.911-14C=)
c.1481-14C= (n.1481-14C=)
18g.57675036G>TCA2306103214ATP8B1c.1631-14C>A (n.1631-14C>A)
c.1482C>A
c.1517-14C>A (n.1517-14C>A)
c.911-14C>A (n.911-14C>A)
c.1481-14C>A (n.1481-14C>A)
 dbSNP gnomAD v4
18g.57675038G>ACA300889216ATP8B1c.1631-16C>T (n.1631-16C>T)
c.1480C>T
c.1517-16C>T (n.1517-16C>T)
c.911-16C>T (n.911-16C>T)
c.1481-16C>T (n.1481-16C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.57675038G=CA2306103215ATP8B1c.1631-16C= (n.1631-16C=)
c.1480C=
c.1517-16C= (n.1517-16C=)
c.911-16C= (n.911-16C=)
c.1481-16C= (n.1481-16C=)
18g.57675039A=CA2306103216ATP8B1c.1631-17T= (n.1631-17T=)
c.1479T=
c.1517-17T= (n.1517-17T=)
c.911-17T= (n.911-17T=)
c.1481-17T= (n.1481-17T=)
18g.57675039A>GCA2306103217ATP8B1c.1631-17T>C (n.1631-17T>C)
c.1479T>C
c.1517-17T>C (n.1517-17T>C)
c.911-17T>C (n.911-17T>C)
c.1481-17T>C (n.1481-17T>C)
 dbSNP gnomAD v4
18g.57675041A>CCA2641954497ATP8B1c.1631-19T>G (n.1631-19T>G)
c.1477T>G
c.1517-19T>G (n.1517-19T>G)
c.911-19T>G (n.911-19T>G)
c.1481-19T>G (n.1481-19T>G)
 gnomAD v4
18g.57675041A>GCA2576663514ATP8B1c.1631-19T>C (n.1631-19T>C)
c.1477T>C
c.1517-19T>C (n.1517-19T>C)
c.911-19T>C (n.911-19T>C)
c.1481-19T>C (n.1481-19T>C)
18g.57675043A=CA2306103218ATP8B1c.1631-21T= (n.1631-21T=)
c.1475T=
c.1517-21T= (n.1517-21T=)
c.911-21T= (n.911-21T=)
c.1481-21T= (n.1481-21T=)
18g.57675043A>TCA990694757ATP8B1c.1631-21T>A (n.1631-21T>A)
c.1475T>A
c.1517-21T>A (n.1517-21T>A)
c.911-21T>A (n.911-21T>A)
c.1481-21T>A (n.1481-21T>A)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched