Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.57674922G>A | CA504021236 | ATP8B1 | c.1731C>T (p.Ile577=) c.1596C>T c.1617C>T (p.Ile539=) c.1011C>T (p.Ile337=) c.1581C>T (p.Ile527=) | |
18 | g.57674922G>C | CA402561145 | ATP8B1 | c.1731C>G (p.Ile577Met) c.1596C>G c.1617C>G (p.Ile539Met) c.1011C>G (p.Ile337Met) c.1581C>G (p.Ile527Met) | |
18 | g.57674922G>T | CA504021235 | ATP8B1 | c.1731C>A (p.Ile577=) c.1596C>A c.1617C>A (p.Ile539=) c.1011C>A (p.Ile337=) c.1581C>A (p.Ile527=) | |
18 | g.57674923A>C | CA402561148 | ATP8B1 | c.1730T>G (p.Ile577Ser) c.1595T>G c.1616T>G (p.Ile539Ser) c.1010T>G (p.Ile337Ser) c.1580T>G (p.Ile527Ser) | |
18 | g.57674923A>G | CA402561151 | ATP8B1 | c.1730T>C (p.Ile577Thr) c.1595T>C c.1616T>C (p.Ile539Thr) c.1010T>C (p.Ile337Thr) c.1580T>C (p.Ile527Thr) | |
18 | g.57674923A>T | CA402561153 | ATP8B1 | c.1730T>A (p.Ile577Asn) c.1595T>A c.1616T>A (p.Ile539Asn) c.1010T>A (p.Ile337Asn) c.1580T>A (p.Ile527Asn) | |
18 | g.57674924T>A | CA402561157 | ATP8B1 | c.1729A>T (p.Ile577Phe) c.1594A>T c.1615A>T (p.Ile539Phe) c.1009A>T (p.Ile337Phe) c.1579A>T (p.Ile527Phe) | |
18 | g.57674924T>C | CA8974491 | ATP8B1 | c.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 |
18 | g.57674924T>G | CA402561162 | ATP8B1 | c.1729A>C (p.Ile577Leu) c.1594A>C c.1615A>C (p.Ile539Leu) c.1009A>C (p.Ile337Leu) c.1579A>C (p.Ile527Leu) | |
18 | g.57674924T= | CA2306103169 | ATP8B1 | c.1729A= (p.Ile577=) c.1594A= c.1615A= (p.Ile539=) c.1009A= (p.Ile337=) c.1579A= (p.Ile527=) | |
18 | g.57674925G>A | CA504021237 | ATP8B1 | c.1728C>T (p.Thr576=) c.1593C>T c.1614C>T (p.Thr538=) c.1008C>T (p.Thr336=) c.1578C>T (p.Thr526=) | |
18 | g.57674925G>C | CA504021238 | ATP8B1 | c.1728C>G (p.Thr576=) c.1593C>G c.1614C>G (p.Thr538=) c.1008C>G (p.Thr336=) c.1578C>G (p.Thr526=) | |
18 | g.57674925G>T | CA504021239 | ATP8B1 | c.1728C>A (p.Thr576=) c.1593C>A c.1614C>A (p.Thr538=) c.1008C>A (p.Thr336=) c.1578C>A (p.Thr526=) | |
18 | g.57674926G>A | CA402561168 | ATP8B1 | c.1727C>T (p.Thr576Ile) c.1592C>T c.1613C>T (p.Thr538Ile) c.1007C>T (p.Thr336Ile) c.1577C>T (p.Thr526Ile) | |
18 | g.57674926G>C | CA402561173 | ATP8B1 | c.1727C>G (p.Thr576Ser) c.1592C>G c.1613C>G (p.Thr538Ser) c.1007C>G (p.Thr336Ser) c.1577C>G (p.Thr526Ser) | |
18 | g.57674926G>T | CA402561177 | ATP8B1 | c.1727C>A (p.Thr576Asn) c.1592C>A c.1613C>A (p.Thr538Asn) c.1007C>A (p.Thr336Asn) c.1577C>A (p.Thr526Asn) | |
18 | g.57674927T>A | CA402561183 | ATP8B1 | c.1726A>T (p.Thr576Ser) c.1591A>T c.1612A>T (p.Thr538Ser) c.1006A>T (p.Thr336Ser) c.1576A>T (p.Thr526Ser) | |
18 | g.57674927T>C | CA402561187 | ATP8B1 | c.1726A>G (p.Thr576Ala) c.1591A>G c.1612A>G (p.Thr538Ala) c.1006A>G (p.Thr336Ala) c.1576A>G (p.Thr526Ala) | |
18 | g.57674927T>G | CA402561180 | ATP8B1 | c.1726A>C (p.Thr576Pro) c.1591A>C c.1612A>C (p.Thr538Pro) c.1006A>C (p.Thr336Pro) c.1576A>C (p.Thr526Pro) | |
18 | g.57674928G>A | CA504021241 | ATP8B1 | c.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 |
18 | g.57674928G>C | CA402561191 | ATP8B1 | c.1725C>G (p.Asn575Lys) c.1590C>G c.1611C>G (p.Asn537Lys) c.1005C>G (p.Asn335Lys) c.1575C>G (p.Asn525Lys) | |
18 | g.57674928G= | CA2306103170 | ATP8B1 | c.1725C= (p.Asn575=) c.1590C= c.1611C= (p.Asn537=) c.1005C= (p.Asn335=) c.1575C= (p.Asn525=) | |
18 | g.57674928G>T | CA402561200 | ATP8B1 | c.1725C>A (p.Asn575Lys) c.1590C>A c.1611C>A (p.Asn537Lys) c.1005C>A (p.Asn335Lys) c.1575C>A (p.Asn525Lys) | |
18 | g.57674929T>A | CA402561206 | ATP8B1 | c.1724A>T (p.Asn575Ile) c.1589A>T c.1610A>T (p.Asn537Ile) c.1004A>T (p.Asn335Ile) c.1574A>T (p.Asn525Ile) | |
18 | g.57674929T>C | CA402561208 | ATP8B1 | c.1724A>G (p.Asn575Ser) c.1589A>G c.1610A>G (p.Asn537Ser) c.1004A>G (p.Asn335Ser) c.1574A>G (p.Asn525Ser) | |
18 | g.57674929T>G | CA402561212 | ATP8B1 | c.1724A>C (p.Asn575Thr) c.1589A>C c.1610A>C (p.Asn537Thr) c.1004A>C (p.Asn335Thr) c.1574A>C (p.Asn525Thr) | gnomAD v4 |
18 | g.57674930T>A | CA402561215 | ATP8B1 | c.1723A>T (p.Asn575Tyr) c.1588A>T c.1609A>T (p.Asn537Tyr) c.1003A>T (p.Asn335Tyr) c.1573A>T (p.Asn525Tyr) | |
18 | g.57674930T>C | CA402561219 | ATP8B1 | c.1723A>G (p.Asn575Asp) c.1588A>G c.1609A>G (p.Asn537Asp) c.1003A>G (p.Asn335Asp) c.1573A>G (p.Asn525Asp) | |
18 | g.57674930T>G | CA402561222 | ATP8B1 | c.1723A>C (p.Asn575His) c.1588A>C c.1609A>C (p.Asn537His) c.1003A>C (p.Asn335His) c.1573A>C (p.Asn525His) | |
18 | g.57674931C>A | CA402561225 | ATP8B1 | c.1722G>T (p.Gln574His) c.1587G>T c.1608G>T (p.Gln536His) c.1002G>T (p.Gln334His) c.1572G>T (p.Gln524His) | |
18 | g.57674931C>G | CA402561228 | ATP8B1 | c.1722G>C (p.Gln574His) c.1587G>C c.1608G>C (p.Gln536His) c.1002G>C (p.Gln334His) c.1572G>C (p.Gln524His) | |
18 | g.57674931C>T | CA504021244 | ATP8B1 | c.1722G>A (p.Gln574=) c.1587G>A c.1608G>A (p.Gln536=) c.1002G>A (p.Gln334=) c.1572G>A (p.Gln524=) | |
18 | g.57674932T>A | CA402561234 | ATP8B1 | c.1721A>T (p.Gln574Leu) c.1586A>T c.1607A>T (p.Gln536Leu) c.1001A>T (p.Gln334Leu) c.1571A>T (p.Gln524Leu) | |
18 | g.57674932T>C | CA402561236 | ATP8B1 | c.1721A>G (p.Gln574Arg) c.1586A>G c.1607A>G (p.Gln536Arg) c.1001A>G (p.Gln334Arg) c.1571A>G (p.Gln524Arg) | gnomAD v4 |
18 | g.57674932T>G | CA402561239 | ATP8B1 | c.1721A>C (p.Gln574Pro) c.1586A>C c.1607A>C (p.Gln536Pro) c.1001A>C (p.Gln334Pro) c.1571A>C (p.Gln524Pro) | |
18 | g.57674933G>A | CA402561244 | ATP8B1 | c.1720C>T (p.Gln574Ter) c.1585C>T c.1606C>T (p.Gln536Ter) c.1000C>T (p.Gln334Ter) c.1570C>T (p.Gln524Ter) | |
18 | g.57674933G>C | CA402561252 | ATP8B1 | c.1720C>G (p.Gln574Glu) c.1585C>G c.1606C>G (p.Gln536Glu) c.1000C>G (p.Gln334Glu) c.1570C>G (p.Gln524Glu) | |
18 | g.57674933G>T | CA402561248 | ATP8B1 | c.1720C>A (p.Gln574Lys) c.1585C>A c.1606C>A (p.Gln536Lys) c.1000C>A (p.Gln334Lys) c.1570C>A (p.Gln524Lys) | |
18 | g.57674934G>A | CA504021245 | ATP8B1 | c.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 |
18 | g.57674934G>C | CA504021246 | ATP8B1 | c.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 |
18 | g.57674934G= | CA2306103171 | ATP8B1 | c.1719C= (p.Thr573=) c.1584C= c.1605C= (p.Thr535=) c.999C= (p.Thr333=) c.1569C= (p.Thr523=) | |
18 | g.57674934G>T | CA504021247 | ATP8B1 | c.1719C>A (p.Thr573=) c.1584C>A c.1605C>A (p.Thr535=) c.999C>A (p.Thr333=) c.1569C>A (p.Thr523=) | gnomAD v4 |
18 | g.57674935G>A | CA402561255 | ATP8B1 | c.1718C>T (p.Thr573Ile) c.1583C>T c.1604C>T (p.Thr535Ile) c.998C>T (p.Thr333Ile) c.1568C>T (p.Thr523Ile) | gnomAD v4 |
18 | g.57674935G>C | CA402561259 | ATP8B1 | c.1718C>G (p.Thr573Ser) c.1583C>G c.1604C>G (p.Thr535Ser) c.998C>G (p.Thr333Ser) c.1568C>G (p.Thr523Ser) | |
18 | g.57674935G>T | CA402561263 | ATP8B1 | c.1718C>A (p.Thr573Asn) c.1583C>A c.1604C>A (p.Thr535Asn) c.998C>A (p.Thr333Asn) c.1568C>A (p.Thr523Asn) | COSMIC |
18 | g.57674936T>A | CA402561269 | ATP8B1 | c.1717A>T (p.Thr573Ser) c.1582A>T c.1603A>T (p.Thr535Ser) c.997A>T (p.Thr333Ser) c.1567A>T (p.Thr523Ser) | |
18 | g.57674936T>C | CA402561273 | ATP8B1 | c.1717A>G (p.Thr573Ala) c.1582A>G c.1603A>G (p.Thr535Ala) c.997A>G (p.Thr333Ala) c.1567A>G (p.Thr523Ala) | |
18 | g.57674936T>G | CA402561276 | ATP8B1 | c.1717A>C (p.Thr573Pro) c.1582A>C c.1603A>C (p.Thr535Pro) c.997A>C (p.Thr333Pro) c.1567A>C (p.Thr523Pro) | |
18 | g.57674937C>A | CA402561278 | ATP8B1 | c.1716G>T (p.Arg572Ser) c.1581G>T c.1602G>T (p.Arg534Ser) c.996G>T (p.Arg332Ser) c.1566G>T (p.Arg522Ser) | |
18 | g.57674937C>G | CA402561281 | ATP8B1 | c.1716G>C (p.Arg572Ser) c.1581G>C c.1602G>C (p.Arg534Ser) c.996G>C (p.Arg332Ser) c.1566G>C (p.Arg522Ser) | |
18 | g.57674937C>T | CA504021249 | ATP8B1 | c.1716G>A (p.Arg572=) c.1581G>A c.1602G>A (p.Arg534=) c.996G>A (p.Arg332=) c.1566G>A (p.Arg522=) | |
18 | g.57674938C>A | CA402561283 | ATP8B1 | c.1715G>T (p.Arg572Met) c.1580G>T c.1601G>T (p.Arg534Met) c.995G>T (p.Arg332Met) c.1565G>T (p.Arg522Met) | |
18 | g.57674938C>G | CA402561285 | ATP8B1 | c.1715G>C (p.Arg572Thr) c.1580G>C c.1601G>C (p.Arg534Thr) c.995G>C (p.Arg332Thr) c.1565G>C (p.Arg522Thr) | |
18 | g.57674938C>T | CA402561286 | ATP8B1 | c.1715G>A (p.Arg572Lys) c.1580G>A c.1601G>A (p.Arg534Lys) c.995G>A (p.Arg332Lys) c.1565G>A (p.Arg522Lys) | |
18 | g.57674939T>A | CA402561289 | ATP8B1 | c.1714A>T (p.Arg572Trp) c.1579A>T c.1600A>T (p.Arg534Trp) c.994A>T (p.Arg332Trp) c.1564A>T (p.Arg522Trp) | |
18 | g.57674939T>C | CA402561292 | ATP8B1 | c.1714A>G (p.Arg572Gly) c.1579A>G c.1600A>G (p.Arg534Gly) c.994A>G (p.Arg332Gly) c.1564A>G (p.Arg522Gly) | |
18 | g.57674939T>G | CA504021252 | ATP8B1 | c.1714A>C (p.Arg572=) c.1579A>C c.1600A>C (p.Arg534=) c.994A>C (p.Arg332=) c.1564A>C (p.Arg522=) | |
18 | g.57674940G>A | CA504021254 | ATP8B1 | c.1713C>T (p.Ala571=) c.1578C>T c.1599C>T (p.Ala533=) c.993C>T (p.Ala331=) c.1563C>T (p.Ala521=) | |
18 | g.57674940G>C | CA504021255 | ATP8B1 | c.1713C>G (p.Ala571=) c.1578C>G c.1599C>G (p.Ala533=) c.993C>G (p.Ala331=) c.1563C>G (p.Ala521=) | |
18 | g.57674940G>T | CA504021256 | ATP8B1 | c.1713C>A (p.Ala571=) c.1578C>A c.1599C>A (p.Ala533=) c.993C>A (p.Ala331=) c.1563C>A (p.Ala521=) | |
18 | g.57674941G>A | CA8974492 | ATP8B1 | c.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 |
18 | g.57674941G>C | CA402561299 | ATP8B1 | c.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 |
18 | g.57674941G= | CA2306103172 | ATP8B1 | c.1712C= (p.Ala571=) c.1577C= c.1598C= (p.Ala533=) c.992C= (p.Ala331=) c.1562C= (p.Ala521=) | |
18 | g.57674941G>T | CA402561301 | ATP8B1 | c.1712C>A (p.Ala571Asp) c.1577C>A c.1598C>A (p.Ala533Asp) c.992C>A (p.Ala331Asp) c.1562C>A (p.Ala521Asp) | |
18 | g.57674942C>A | CA402561308 | ATP8B1 | c.1711G>T (p.Ala571Ser) c.1576G>T c.1597G>T (p.Ala533Ser) c.991G>T (p.Ala331Ser) c.1561G>T (p.Ala521Ser) | gnomAD v4 |
18 | g.57674942C= | CA2306103173 | ATP8B1 | c.1711G= (p.Ala571=) c.1576G= c.1597G= (p.Ala533=) c.991G= (p.Ala331=) c.1561G= (p.Ala521=) | |
18 | g.57674942C>G | CA402561311 | ATP8B1 | c.1711G>C (p.Ala571Pro) c.1576G>C c.1597G>C (p.Ala533Pro) c.991G>C (p.Ala331Pro) c.1561G>C (p.Ala521Pro) | |
18 | g.57674942C>T | CA8974493 | ATP8B1 | c.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 |
18 | g.57674943G>A | CA8974494 | ATP8B1 | c.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 |
18 | g.57674943G>C | CA504021259 | ATP8B1 | c.1710C>G (p.Leu570=) c.1575C>G c.1596C>G (p.Leu532=) c.990C>G (p.Leu330=) c.1560C>G (p.Leu520=) | gnomAD v4 |
18 | g.57674943G= | CA2306103174 | ATP8B1 | c.1710C= (p.Leu570=) c.1575C= c.1596C= (p.Leu532=) c.990C= (p.Leu330=) c.1560C= (p.Leu520=) | |
18 | g.57674943G>T | CA504021260 | ATP8B1 | c.1710C>A (p.Leu570=) c.1575C>A c.1596C>A (p.Leu532=) c.990C>A (p.Leu330=) c.1560C>A (p.Leu520=) | |
18 | g.57674944A>C | CA402561330 | ATP8B1 | c.1709T>G (p.Leu570Arg) c.1574T>G c.1595T>G (p.Leu532Arg) c.989T>G (p.Leu330Arg) c.1559T>G (p.Leu520Arg) | |
18 | g.57674944A>G | CA402561324 | ATP8B1 | c.1709T>C (p.Leu570Pro) c.1574T>C c.1595T>C (p.Leu532Pro) c.989T>C (p.Leu330Pro) c.1559T>C (p.Leu520Pro) | |
18 | g.57674944A>T | CA402561328 | ATP8B1 | c.1709T>A (p.Leu570His) c.1574T>A c.1595T>A (p.Leu532His) c.989T>A (p.Leu330His) c.1559T>A (p.Leu520His) | |
18 | g.57674945G>A | CA402561338 | ATP8B1 | c.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 |
18 | g.57674945G>C | CA402561340 | ATP8B1 | c.1708C>G (p.Leu570Val) c.1573C>G c.1594C>G (p.Leu532Val) c.988C>G (p.Leu330Val) c.1558C>G (p.Leu520Val) | |
18 | g.57674945G= | CA2306103175 | ATP8B1 | c.1708C= (p.Leu570=) c.1573C= c.1594C= (p.Leu532=) c.988C= (p.Leu330=) c.1558C= (p.Leu520=) | |
18 | g.57674945G>T | CA402561345 | ATP8B1 | c.1708C>A (p.Leu570Ile) c.1573C>A c.1594C>A (p.Leu532Ile) c.988C>A (p.Leu330Ile) c.1558C>A (p.Leu520Ile) | |
18 | g.57674946G>A | CA504021263 | ATP8B1 | c.1707C>T (p.Phe569=) c.1572C>T c.1593C>T (p.Phe531=) c.987C>T (p.Phe329=) c.1557C>T (p.Phe519=) | |
18 | g.57674946G>C | CA402561349 | ATP8B1 | c.1707C>G (p.Phe569Leu) c.1572C>G c.1593C>G (p.Phe531Leu) c.987C>G (p.Phe329Leu) c.1557C>G (p.Phe519Leu) | |
18 | g.57674946G>T | CA402561352 | ATP8B1 | c.1707C>A (p.Phe569Leu) c.1572C>A c.1593C>A (p.Phe531Leu) c.987C>A (p.Phe329Leu) c.1557C>A (p.Phe519Leu) | |
18 | g.57674947A= | CA2306103176 | ATP8B1 | c.1706T= (p.Phe569=) c.1571T= c.1592T= (p.Phe531=) c.986T= (p.Phe329=) c.1556T= (p.Phe519=) | |
18 | g.57674947A>C | CA402561356 | ATP8B1 | c.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 |
18 | g.57674947A>G | CA402561368 | ATP8B1 | c.1706T>C (p.Phe569Ser) c.1571T>C c.1592T>C (p.Phe531Ser) c.986T>C (p.Phe329Ser) c.1556T>C (p.Phe519Ser) | |
18 | g.57674947A>T | CA402561360 | ATP8B1 | c.1706T>A (p.Phe569Tyr) c.1571T>A c.1592T>A (p.Phe531Tyr) c.986T>A (p.Phe329Tyr) c.1556T>A (p.Phe519Tyr) | dbSNP |
18 | g.57674948A>C | CA402561375 | ATP8B1 | c.1705T>G (p.Phe569Val) c.1570T>G c.1591T>G (p.Phe531Val) c.985T>G (p.Phe329Val) c.1555T>G (p.Phe519Val) | |
18 | g.57674948A>G | CA402561379 | ATP8B1 | c.1705T>C (p.Phe569Leu) c.1570T>C c.1591T>C (p.Phe531Leu) c.985T>C (p.Phe329Leu) c.1555T>C (p.Phe519Leu) | |
18 | g.57674948A>T | CA402561383 | ATP8B1 | c.1705T>A (p.Phe569Ile) c.1570T>A c.1591T>A (p.Phe531Ile) c.985T>A (p.Phe329Ile) c.1555T>A (p.Phe519Ile) | |
18 | g.57674949G>A | CA504021265 | ATP8B1 | c.1704C>T (p.Ala568=) c.1569C>T c.1590C>T (p.Ala530=) c.984C>T (p.Ala328=) c.1554C>T (p.Ala518=) | |
18 | g.57674949G>C | CA504021266 | ATP8B1 | c.1704C>G (p.Ala568=) c.1569C>G c.1590C>G (p.Ala530=) c.984C>G (p.Ala328=) c.1554C>G (p.Ala518=) | |
18 | g.57674949G>T | CA504021267 | ATP8B1 | c.1704C>A (p.Ala568=) c.1569C>A c.1590C>A (p.Ala530=) c.984C>A (p.Ala328=) c.1554C>A (p.Ala518=) | |
18 | g.57674950G>A | CA8974495 | ATP8B1 | c.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 |
18 | g.57674950G>C | CA402561386 | ATP8B1 | c.1703C>G (p.Ala568Gly) c.1568C>G c.1589C>G (p.Ala530Gly) c.983C>G (p.Ala328Gly) c.1553C>G (p.Ala518Gly) | |
18 | g.57674950G= | CA2306103177 | ATP8B1 | c.1703C= (p.Ala568=) c.1568C= c.1589C= (p.Ala530=) c.983C= (p.Ala328=) c.1553C= (p.Ala518=) | |
18 | g.57674950G>T | CA402561392 | ATP8B1 | c.1703C>A (p.Ala568Asp) c.1568C>A c.1589C>A (p.Ala530Asp) c.983C>A (p.Ala328Asp) c.1553C>A (p.Ala518Asp) | |
18 | g.57674951C>A | CA402561398 | ATP8B1 | c.1702G>T (p.Ala568Ser) c.1567G>T c.1588G>T (p.Ala530Ser) c.982G>T (p.Ala328Ser) c.1552G>T (p.Ala518Ser) | |
18 | g.57674951C>G | CA402561405 | ATP8B1 | c.1702G>C (p.Ala568Pro) c.1567G>C c.1588G>C (p.Ala530Pro) c.982G>C (p.Ala328Pro) c.1552G>C (p.Ala518Pro) | |
18 | g.57674951C>T | CA402561411 | ATP8B1 | c.1702G>A (p.Ala568Thr) c.1567G>A c.1588G>A (p.Ala530Thr) c.982G>A (p.Ala328Thr) c.1552G>A (p.Ala518Thr) | |
18 | g.57674952A= | CA2306103178 | ATP8B1 | c.1701T= (p.Phe567=) c.1566T= c.1587T= (p.Phe529=) c.981T= (p.Phe327=) c.1551T= (p.Phe517=) | |
18 | g.57674952A>C | CA402561414 | ATP8B1 | c.1701T>G (p.Phe567Leu) c.1566T>G c.1587T>G (p.Phe529Leu) c.981T>G (p.Phe327Leu) c.1551T>G (p.Phe517Leu) | |
18 | g.57674952A>G | CA504021268 | ATP8B1 | c.1701T>C (p.Phe567=) c.1566T>C c.1587T>C (p.Phe529=) c.981T>C (p.Phe327=) c.1551T>C (p.Phe517=) | dbSNP |
18 | g.57674952A>T | CA402561418 | ATP8B1 | c.1701T>A (p.Phe567Leu) c.1566T>A c.1587T>A (p.Phe529Leu) c.981T>A (p.Phe327Leu) c.1551T>A (p.Phe517Leu) | |
18 | g.57674953A= | CA2306103179 | ATP8B1 | c.1700T= (p.Phe567=) c.1565T= c.1586T= (p.Phe529=) c.980T= (p.Phe327=) c.1550T= (p.Phe517=) | |
18 | g.57674953A>C | CA402561425 | ATP8B1 | c.1700T>G (p.Phe567Cys) c.1565T>G c.1586T>G (p.Phe529Cys) c.980T>G (p.Phe327Cys) c.1550T>G (p.Phe517Cys) | COSMIC |
18 | g.57674953A>G | CA402561428 | ATP8B1 | c.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 |
18 | g.57674953A>T | CA402561427 | ATP8B1 | c.1700T>A (p.Phe567Tyr) c.1565T>A c.1586T>A (p.Phe529Tyr) c.980T>A (p.Phe327Tyr) c.1550T>A (p.Phe517Tyr) | |
18 | g.57674954A>C | CA402561432 | ATP8B1 | c.1699T>G (p.Phe567Val) c.1564T>G c.1585T>G (p.Phe529Val) c.979T>G (p.Phe327Val) c.1549T>G (p.Phe517Val) | gnomAD v4 |
18 | g.57674954A>G | CA402561433 | ATP8B1 | c.1699T>C (p.Phe567Leu) c.1564T>C c.1585T>C (p.Phe529Leu) c.979T>C (p.Phe327Leu) c.1549T>C (p.Phe517Leu) | |
18 | g.57674954A>T | CA402561434 | ATP8B1 | c.1699T>A (p.Phe567Ile) c.1564T>A c.1585T>A (p.Phe529Ile) c.979T>A (p.Phe327Ile) c.1549T>A (p.Phe517Ile) | |
18 | g.57674955G>A | CA504021272 | ATP8B1 | c.1698C>T (p.Gly566=) c.1563C>T c.1584C>T (p.Gly528=) c.978C>T (p.Gly326=) c.1548C>T (p.Gly516=) | dbSNP |
18 | g.57674955G>C | CA504021273 | ATP8B1 | c.1698C>G (p.Gly566=) c.1563C>G c.1584C>G (p.Gly528=) c.978C>G (p.Gly326=) c.1548C>G (p.Gly516=) | |
18 | g.57674955G= | CA2306103180 | ATP8B1 | c.1698C= (p.Gly566=) c.1563C= c.1584C= (p.Gly528=) c.978C= (p.Gly326=) c.1548C= (p.Gly516=) | |
18 | g.57674955G>T | CA504021274 | ATP8B1 | c.1698C>A (p.Gly566=) c.1563C>A c.1584C>A (p.Gly528=) c.978C>A (p.Gly326=) c.1548C>A (p.Gly516=) | |
18 | g.57674956C>A | CA402561437 | ATP8B1 | c.1697G>T (p.Gly566Val) c.1562G>T c.1583G>T (p.Gly528Val) c.977G>T (p.Gly326Val) c.1547G>T (p.Gly516Val) | |
18 | g.57674956C= | CA2306103181 | ATP8B1 | c.1697G= (p.Gly566=) c.1562G= c.1583G= (p.Gly528=) c.977G= (p.Gly326=) c.1547G= (p.Gly516=) | |
18 | g.57674956C>G | CA402561439 | ATP8B1 | c.1697G>C (p.Gly566Ala) c.1562G>C c.1583G>C (p.Gly528Ala) c.977G>C (p.Gly326Ala) c.1547G>C (p.Gly516Ala) | |
18 | g.57674956C>T | CA300889144 | ATP8B1 | c.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 |
18 | g.57674957C>A | CA402561444 | ATP8B1 | c.1696G>T (p.Gly566Cys) c.1561G>T c.1582G>T (p.Gly528Cys) c.976G>T (p.Gly326Cys) c.1546G>T (p.Gly516Cys) | |
18 | g.57674957C= | CA2306103182 | ATP8B1 | c.1696G= (p.Gly566=) c.1561G= c.1582G= (p.Gly528=) c.976G= (p.Gly326=) c.1546G= (p.Gly516=) | |
18 | g.57674957C>G | CA402561449 | ATP8B1 | c.1696G>C (p.Gly566Arg) c.1561G>C c.1582G>C (p.Gly528Arg) c.976G>C (p.Gly326Arg) c.1546G>C (p.Gly516Arg) | |
18 | g.57674957C>T | CA402561452 | ATP8B1 | c.1696G>A (p.Gly566Ser) c.1561G>A c.1582G>A (p.Gly528Ser) c.976G>A (p.Gly326Ser) c.1546G>A (p.Gly516Ser) | |
18 | g.57674958A>C | CA402561460 | ATP8B1 | c.1695T>G (p.Phe565Leu) c.1560T>G c.1581T>G (p.Phe527Leu) c.975T>G (p.Phe325Leu) c.1545T>G (p.Phe515Leu) | |
18 | g.57674958A>G | CA504021277 | ATP8B1 | c.1695T>C (p.Phe565=) c.1560T>C c.1581T>C (p.Phe527=) c.975T>C (p.Phe325=) c.1545T>C (p.Phe515=) | |
18 | g.57674958A>T | CA402561462 | ATP8B1 | c.1695T>A (p.Phe565Leu) c.1560T>A c.1581T>A (p.Phe527Leu) c.975T>A (p.Phe325Leu) c.1545T>A (p.Phe515Leu) | |
18 | g.57674960dup | CA402561457 | ATP8B1 | c.1695dup (p.Gly566TrpfsTer16) c.1560dup c.1581dup (p.Gly528TrpfsTer16) c.975dup (p.Gly326TrpfsTer16) c.1545dup (p.Gly516TrpfsTer16) | dbSNP |
18 | g.57674959A= | CA2306103183 | ATP8B1 | c.1694T= (p.Phe565=) c.1559T= c.1580T= (p.Phe527=) c.974T= (p.Phe325=) c.1544T= (p.Phe515=) | |
18 | g.57674959A>C | CA402561472 | ATP8B1 | c.1694T>G (p.Phe565Cys) c.1559T>G c.1580T>G (p.Phe527Cys) c.974T>G (p.Phe325Cys) c.1544T>G (p.Phe515Cys) | |
18 | g.57674959A>G | CA402561466 | ATP8B1 | c.1694T>C (p.Phe565Ser) c.1559T>C c.1580T>C (p.Phe527Ser) c.974T>C (p.Phe325Ser) c.1544T>C (p.Phe515Ser) | dbSNP |
18 | g.57674959A>T | CA402561468 | ATP8B1 | c.1694T>A (p.Phe565Tyr) c.1559T>A c.1580T>A (p.Phe527Tyr) c.974T>A (p.Phe325Tyr) c.1544T>A (p.Phe515Tyr) | |
18 | g.57674960A>C | CA402561476 | ATP8B1 | c.1693T>G (p.Phe565Val) c.1558T>G c.1579T>G (p.Phe527Val) c.973T>G (p.Phe325Val) c.1543T>G (p.Phe515Val) | |
18 | g.57674960A>G | CA402561478 | ATP8B1 | c.1693T>C (p.Phe565Leu) c.1558T>C c.1579T>C (p.Phe527Leu) c.973T>C (p.Phe325Leu) c.1543T>C (p.Phe515Leu) | |
18 | g.57674960A>T | CA402561481 | ATP8B1 | c.1693T>A (p.Phe565Ile) c.1558T>A c.1579T>A (p.Phe527Ile) c.973T>A (p.Phe325Ile) c.1543T>A (p.Phe515Ile) | |
18 | g.57674961G>A | CA8974496 | ATP8B1 | c.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 |
18 | g.57674961G>C | CA402561487 | ATP8B1 | c.1692C>G (p.Asn564Lys) c.1557C>G c.1578C>G (p.Asn526Lys) c.972C>G (p.Asn324Lys) c.1542C>G (p.Asn514Lys) | |
18 | g.57674961G= | CA2306103184 | ATP8B1 | c.1692C= (p.Asn564=) c.1557C= c.1578C= (p.Asn526=) c.972C= (p.Asn324=) c.1542C= (p.Asn514=) | |
18 | g.57674961G>T | CA402561490 | ATP8B1 | c.1692C>A (p.Asn564Lys) c.1557C>A c.1578C>A (p.Asn526Lys) c.972C>A (p.Asn324Lys) c.1542C>A (p.Asn514Lys) | |
18 | g.57674962T>A | CA402561495 | ATP8B1 | c.1691A>T (p.Asn564Ile) c.1556A>T c.1577A>T (p.Asn526Ile) c.971A>T (p.Asn324Ile) c.1541A>T (p.Asn514Ile) | |
18 | g.57674962T>C | CA402561499 | ATP8B1 | c.1691A>G (p.Asn564Ser) c.1556A>G c.1577A>G (p.Asn526Ser) c.971A>G (p.Asn324Ser) c.1541A>G (p.Asn514Ser) | |
18 | g.57674962T>G | CA402561501 | ATP8B1 | c.1691A>C (p.Asn564Thr) c.1556A>C c.1577A>C (p.Asn526Thr) c.971A>C (p.Asn324Thr) c.1541A>C (p.Asn514Thr) | |
18 | g.57674963T>A | CA402561503 | ATP8B1 | c.1690A>T (p.Asn564Tyr) c.1555A>T c.1576A>T (p.Asn526Tyr) c.970A>T (p.Asn324Tyr) c.1540A>T (p.Asn514Tyr) | |
18 | g.57674963T>C | CA402561509 | ATP8B1 | c.1690A>G (p.Asn564Asp) c.1555A>G c.1576A>G (p.Asn526Asp) c.970A>G (p.Asn324Asp) c.1540A>G (p.Asn514Asp) | |
18 | g.57674963T>G | CA402561516 | ATP8B1 | c.1690A>C (p.Asn564His) c.1555A>C c.1576A>C (p.Asn526His) c.970A>C (p.Asn324His) c.1540A>C (p.Asn514His) | |
18 | g.57674964C>A | CA402561542 | ATP8B1 | c.1689G>T (p.Arg563Ser) c.1554G>T c.1575G>T (p.Arg525Ser) c.969G>T (p.Arg323Ser) c.1539G>T (p.Arg513Ser) | |
18 | g.57674964C>G | CA402561535 | ATP8B1 | c.1689G>C (p.Arg563Ser) c.1554G>C c.1575G>C (p.Arg525Ser) c.969G>C (p.Arg323Ser) c.1539G>C (p.Arg513Ser) | |
18 | g.57674964C>T | CA504021284 | ATP8B1 | c.1689G>A (p.Arg563=) c.1554G>A c.1575G>A (p.Arg525=) c.969G>A (p.Arg323=) c.1539G>A (p.Arg513=) | |
18 | g.57674965_57674979del | CA2695227681 | ATP8B1 | c.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) | |
18 | g.57674965C>A | CA402561543 | ATP8B1 | c.1688G>T (p.Arg563Met) c.1553G>T c.1574G>T (p.Arg525Met) c.968G>T (p.Arg323Met) c.1538G>T (p.Arg513Met) | |
18 | g.57674965C>G | CA402561545 | ATP8B1 | c.1688G>C (p.Arg563Thr) c.1553G>C c.1574G>C (p.Arg525Thr) c.968G>C (p.Arg323Thr) c.1538G>C (p.Arg513Thr) | |
18 | g.57674965C>T | CA402561544 | ATP8B1 | c.1688G>A (p.Arg563Lys) c.1553G>A c.1574G>A (p.Arg525Lys) c.968G>A (p.Arg323Lys) c.1538G>A (p.Arg513Lys) | gnomAD v4 |
18 | g.57674966T>A | CA402561549 | ATP8B1 | c.1687A>T (p.Arg563Trp) c.1552A>T c.1573A>T (p.Arg525Trp) c.967A>T (p.Arg323Trp) c.1537A>T (p.Arg513Trp) | |
18 | g.57674966T>C | CA402561553 | ATP8B1 | c.1687A>G (p.Arg563Gly) c.1552A>G c.1573A>G (p.Arg525Gly) c.967A>G (p.Arg323Gly) c.1537A>G (p.Arg513Gly) | |
18 | g.57674966T>G | CA504021286 | ATP8B1 | c.1687A>C (p.Arg563=) c.1552A>C c.1573A>C (p.Arg525=) c.967A>C (p.Arg323=) c.1537A>C (p.Arg513=) | |
18 | g.57674967G>A | CA504021287 | ATP8B1 | c.1686C>T (p.Ala562=) c.1551C>T c.1572C>T (p.Ala524=) c.966C>T (p.Ala322=) c.1536C>T (p.Ala512=) | |
18 | g.57674967G>C | CA504021288 | ATP8B1 | c.1686C>G (p.Ala562=) c.1551C>G c.1572C>G (p.Ala524=) c.966C>G (p.Ala322=) c.1536C>G (p.Ala512=) | |
18 | g.57674967G>T | CA504021290 | ATP8B1 | c.1686C>A (p.Ala562=) c.1551C>A c.1572C>A (p.Ala524=) c.966C>A (p.Ala322=) c.1536C>A (p.Ala512=) | |
18 | g.57674968G>A | CA402561554 | ATP8B1 | c.1685C>T (p.Ala562Val) c.1550C>T c.1571C>T (p.Ala524Val) c.965C>T (p.Ala322Val) c.1535C>T (p.Ala512Val) | gnomAD v4 |
18 | g.57674968G>C | CA402561555 | ATP8B1 | c.1685C>G (p.Ala562Gly) c.1550C>G c.1571C>G (p.Ala524Gly) c.965C>G (p.Ala322Gly) c.1535C>G (p.Ala512Gly) | |
18 | g.57674968G>T | CA402561558 | ATP8B1 | c.1685C>A (p.Ala562Asp) c.1550C>A c.1571C>A (p.Ala524Asp) c.965C>A (p.Ala322Asp) c.1535C>A (p.Ala512Asp) | |
18 | g.57674969C>A | CA402561562 | ATP8B1 | c.1684G>T (p.Ala562Ser) c.1549G>T c.1570G>T (p.Ala524Ser) c.964G>T (p.Ala322Ser) c.1534G>T (p.Ala512Ser) | |
18 | g.57674969C>G | CA402561568 | ATP8B1 | c.1684G>C (p.Ala562Pro) c.1549G>C c.1570G>C (p.Ala524Pro) c.964G>C (p.Ala322Pro) c.1534G>C (p.Ala512Pro) | |
18 | g.57674969C>T | CA402561573 | ATP8B1 | c.1684G>A (p.Ala562Thr) c.1549G>A c.1570G>A (p.Ala524Thr) c.964G>A (p.Ala322Thr) c.1534G>A (p.Ala512Thr) | |
18 | g.57674970A= | CA2306103185 | ATP8B1 | c.1683T= (p.Ala561=) c.1548T= c.1569T= (p.Ala523=) c.963T= (p.Ala321=) c.1533T= (p.Ala511=) | |
18 | g.57674970A>C | CA8974497 | ATP8B1 | c.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 |
18 | g.57674970A>G | CA504021296 | ATP8B1 | c.1683T>C (p.Ala561=) c.1548T>C c.1569T>C (p.Ala523=) c.963T>C (p.Ala321=) c.1533T>C (p.Ala511=) | |
18 | g.57674970A>T | CA504021294 | ATP8B1 | c.1683T>A (p.Ala561=) c.1548T>A c.1569T>A (p.Ala523=) c.963T>A (p.Ala321=) c.1533T>A (p.Ala511=) | |
18 | g.57674971G>A | CA402561580 | ATP8B1 | c.1682C>T (p.Ala561Val) c.1547C>T c.1568C>T (p.Ala523Val) c.962C>T (p.Ala321Val) c.1532C>T (p.Ala511Val) | |
18 | g.57674971G>C | CA402561586 | ATP8B1 | c.1682C>G (p.Ala561Gly) c.1547C>G c.1568C>G (p.Ala523Gly) c.962C>G (p.Ala321Gly) c.1532C>G (p.Ala511Gly) | |
18 | g.57674971G>T | CA402561593 | ATP8B1 | c.1682C>A (p.Ala561Asp) c.1547C>A c.1568C>A (p.Ala523Asp) c.962C>A (p.Ala321Asp) c.1532C>A (p.Ala511Asp) | |
18 | g.57674972C>A | CA402561598 | ATP8B1 | c.1681G>T (p.Ala561Ser) c.1546G>T c.1567G>T (p.Ala523Ser) c.961G>T (p.Ala321Ser) c.1531G>T (p.Ala511Ser) | |
18 | g.57674972C= | CA2306103186 | ATP8B1 | c.1681G= (p.Ala561=) c.1546G= c.1567G= (p.Ala523=) c.961G= (p.Ala321=) c.1531G= (p.Ala511=) | |
18 | g.57674972C>G | CA402561600 | ATP8B1 | c.1681G>C (p.Ala561Pro) c.1546G>C c.1567G>C (p.Ala523Pro) c.961G>C (p.Ala321Pro) c.1531G>C (p.Ala511Pro) | |
18 | g.57674972C>T | CA8974498 | ATP8B1 | c.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 |
18 | g.57674973G>A | CA8974499 | ATP8B1 | c.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 |
18 | g.57674973G>C | CA402561608 | ATP8B1 | c.1680C>G (p.Asn560Lys) c.1545C>G c.1566C>G (p.Asn522Lys) c.960C>G (p.Asn320Lys) c.1530C>G (p.Asn510Lys) | |
18 | g.57674973G= | CA2306103187 | ATP8B1 | c.1680C= (p.Asn560=) c.1545C= c.1566C= (p.Asn522=) c.960C= (p.Asn320=) c.1530C= (p.Asn510=) | |
18 | g.57674973G>T | CA402561610 | ATP8B1 | c.1680C>A (p.Asn560Lys) c.1545C>A c.1566C>A (p.Asn522Lys) c.960C>A (p.Asn320Lys) c.1530C>A (p.Asn510Lys) | |
18 | g.57674973dup | CA2831039023 | ATP8B1 | c.1680dup (p.Ala561ArgfsTer21) c.1545dup c.1566dup (p.Ala523ArgfsTer21) c.960dup (p.Ala321ArgfsTer21) c.1530dup (p.Ala511ArgfsTer21) | |
18 | g.57674974T>A | CA402561616 | ATP8B1 | c.1679A>T (p.Asn560Ile) c.1544A>T c.1565A>T (p.Asn522Ile) c.959A>T (p.Asn320Ile) c.1529A>T (p.Asn510Ile) | |
18 | g.57674974T>C | CA402561620 | ATP8B1 | c.1679A>G (p.Asn560Ser) c.1544A>G c.1565A>G (p.Asn522Ser) c.959A>G (p.Asn320Ser) c.1529A>G (p.Asn510Ser) | |
18 | g.57674974T>G | CA402561625 | ATP8B1 | c.1679A>C (p.Asn560Thr) c.1544A>C c.1565A>C (p.Asn522Thr) c.959A>C (p.Asn320Thr) c.1529A>C (p.Asn510Thr) | |
18 | g.57674975T>A | CA402561630 | ATP8B1 | c.1678A>T (p.Asn560Tyr) c.1543A>T c.1564A>T (p.Asn522Tyr) c.958A>T (p.Asn320Tyr) c.1528A>T (p.Asn510Tyr) | |
18 | g.57674975T>C | CA402561632 | ATP8B1 | c.1678A>G (p.Asn560Asp) c.1543A>G c.1564A>G (p.Asn522Asp) c.958A>G (p.Asn320Asp) c.1528A>G (p.Asn510Asp) | gnomAD v4 |
18 | g.57674975T>G | CA402561642 | ATP8B1 | c.1678A>C (p.Asn560His) c.1543A>C c.1564A>C (p.Asn522His) c.958A>C (p.Asn320His) c.1528A>C (p.Asn510His) | |
18 | g.57674976T>A | CA504021304 | ATP8B1 | c.1677A>T (p.Val559=) c.1542A>T c.1563A>T (p.Val521=) c.957A>T (p.Val319=) c.1527A>T (p.Val509=) | |
18 | g.57674976T>C | CA504021306 | ATP8B1 | c.1677A>G (p.Val559=) c.1542A>G c.1563A>G (p.Val521=) c.957A>G (p.Val319=) c.1527A>G (p.Val509=) | |
18 | g.57674976T>G | CA504021307 | ATP8B1 | c.1677A>C (p.Val559=) c.1542A>C c.1563A>C (p.Val521=) c.957A>C (p.Val319=) c.1527A>C (p.Val509=) | |
18 | g.57674976_57674977insGGCTTCCGCCGCCCCAGCATCGCCCTTGCGTAGTGGGCCAGCCAGCATCCCCGCCAGTTTCCACACCAGCGCTTCGGTGAAGGTCGCCGGGTACAGCGCCGGGTCGTCGGCGGTGGCGATGTAGCGC | CA2515259107 | ATP8B1 | c.1676_1677insGCGCTACATCGCCACCGCCGACGACCCGGCGCTGTACCCGGCGACCTTCACCGAAGCGCTGGTGTGGAAACTGGCGGGGATGCTGGCTGGCCCACTACGCAAGGGCGATGCTGGGGCGGCGGAAGCC (p.Asn560ArgfsTer64) c.1541_1542insGCGCTACATCGCCACCGCCGACGACCCGGCGCTGTACCCGGCGACCTTCACCGAAGCGCTGGTGTGGAAACTGGCGGGGATGCTGGCTGGCCCACTACGCAAGGGCGATGCTGGGGCGGCGGAAGCC c.1562_1563insGCGCTACATCGCCACCGCCGACGACCCGGCGCTGTACCCGGCGACCTTCACCGAAGCGCTGGTGTGGAAACTGGCGGGGATGCTGGCTGGCCCACTACGCAAGGGCGATGCTGGGGCGGCGGAAGCC (p.Asn522ArgfsTer64) c.956_957insGCGCTACATCGCCACCGCCGACGACCCGGCGCTGTACCCGGCGACCTTCACCGAAGCGCTGGTGTGGAAACTGGCGGGGATGCTGGCTGGCCCACTACGCAAGGGCGATGCTGGGGCGGCGGAAGCC (p.Asn320ArgfsTer64) c.1526_1527insGCGCTACATCGCCACCGCCGACGACCCGGCGCTGTACCCGGCGACCTTCACCGAAGCGCTGGTGTGGAAACTGGCGGGGATGCTGGCTGGCCCACTACGCAAGGGCGATGCTGGGGCGGCGGAAGCC (p.Asn510ArgfsTer64) | |
18 | g.57674977A>C | CA402561658 | ATP8B1 | c.1676T>G (p.Val559Gly) c.1541T>G c.1562T>G (p.Val521Gly) c.956T>G (p.Val319Gly) c.1526T>G (p.Val509Gly) | |
18 | g.57674977A>G | CA402561664 | ATP8B1 | c.1676T>C (p.Val559Ala) c.1541T>C c.1562T>C (p.Val521Ala) c.956T>C (p.Val319Ala) c.1526T>C (p.Val509Ala) | |
18 | g.57674977A>T | CA402561671 | ATP8B1 | c.1676T>A (p.Val559Glu) c.1541T>A c.1562T>A (p.Val521Glu) c.956T>A (p.Val319Glu) c.1526T>A (p.Val509Glu) | |
18 | g.57674978C>A | CA402561676 | ATP8B1 | c.1675G>T (p.Val559Leu) c.1540G>T c.1561G>T (p.Val521Leu) c.955G>T (p.Val319Leu) c.1525G>T (p.Val509Leu) | |
18 | g.57674978C= | CA2306103188 | ATP8B1 | c.1675G= (p.Val559=) c.1540G= c.1561G= (p.Val521=) c.955G= (p.Val319=) c.1525G= (p.Val509=) | |
18 | g.57674978C>G | CA402561681 | ATP8B1 | c.1675G>C (p.Val559Leu) c.1540G>C c.1561G>C (p.Val521Leu) c.955G>C (p.Val319Leu) c.1525G>C (p.Val509Leu) | |
18 | g.57674978C>T | CA402561682 | ATP8B1 | c.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 |
18 | g.57674979C>A | CA504021309 | ATP8B1 | c.1674G>T (p.Leu558=) c.1539G>T c.1560G>T (p.Leu520=) c.954G>T (p.Leu318=) c.1524G>T (p.Leu508=) | |
18 | g.57674979C>G | CA504021311 | ATP8B1 | c.1674G>C (p.Leu558=) c.1539G>C c.1560G>C (p.Leu520=) c.954G>C (p.Leu318=) c.1524G>C (p.Leu508=) | gnomAD v4 |
18 | g.57674979C>T | CA504021313 | ATP8B1 | c.1674G>A (p.Leu558=) c.1539G>A c.1560G>A (p.Leu520=) c.954G>A (p.Leu318=) c.1524G>A (p.Leu508=) | gnomAD v4 |
18 | g.57674980A>C | CA402561683 | ATP8B1 | c.1673T>G (p.Leu558Arg) c.1538T>G c.1559T>G (p.Leu520Arg) c.953T>G (p.Leu318Arg) c.1523T>G (p.Leu508Arg) | gnomAD v4 |
18 | g.57674980A>G | CA402561687 | ATP8B1 | c.1673T>C (p.Leu558Pro) c.1538T>C c.1559T>C (p.Leu520Pro) c.953T>C (p.Leu318Pro) c.1523T>C (p.Leu508Pro) | |
18 | g.57674980A>T | CA402561684 | ATP8B1 | c.1673T>A (p.Leu558Gln) c.1538T>A c.1559T>A (p.Leu520Gln) c.953T>A (p.Leu318Gln) c.1523T>A (p.Leu508Gln) | |
18 | g.57674981G>A | CA504021315 | ATP8B1 | c.1672C>T (p.Leu558=) c.1537C>T c.1558C>T (p.Leu520=) c.952C>T (p.Leu318=) c.1522C>T (p.Leu508=) | |
18 | g.57674981G>C | CA402561689 | ATP8B1 | c.1672C>G (p.Leu558Val) c.1537C>G c.1558C>G (p.Leu520Val) c.952C>G (p.Leu318Val) c.1522C>G (p.Leu508Val) | |
18 | g.57674981G>T | CA402561693 | ATP8B1 | c.1672C>A (p.Leu558Met) c.1537C>A c.1558C>A (p.Leu520Met) c.952C>A (p.Leu318Met) c.1522C>A (p.Leu508Met) | |
18 | g.57674984_57674996del | CA2641954492 | ATP8B1 | c.1660_1672del (p.Asp554TrpfsTer2) c.1525_1537del c.1546_1558del (p.Asp516TrpfsTer2) c.940_952del (p.Asp314TrpfsTer2) c.1510_1522del (p.Asp504TrpfsTer2) | gnomAD v4 |
18 | g.57674982G>A | CA504021319 | ATP8B1 | c.1671C>T (p.Ala557=) c.1536C>T c.1557C>T (p.Ala519=) c.951C>T (p.Ala317=) c.1521C>T (p.Ala507=) | ClinVar |
18 | g.57674982G>C | CA504021316 | ATP8B1 | c.1671C>G (p.Ala557=) c.1536C>G c.1557C>G (p.Ala519=) c.951C>G (p.Ala317=) c.1521C>G (p.Ala507=) | |
18 | g.57674982G= | CA2306103189 | ATP8B1 | c.1671C= (p.Ala557=) c.1536C= c.1557C= (p.Ala519=) c.951C= (p.Ala317=) c.1521C= (p.Ala507=) | |
18 | g.57674982G>T | CA504021317 | ATP8B1 | c.1671C>A (p.Ala557=) c.1536C>A c.1557C>A (p.Ala519=) c.951C>A (p.Ala317=) c.1521C>A (p.Ala507=) | ClinVar dbSNP |
18 | g.57674983G>A | CA8974500 | ATP8B1 | c.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 |
18 | g.57674983G>C | CA402561704 | ATP8B1 | c.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 |
18 | g.57674983G= | CA2306103190 | ATP8B1 | c.1670C= (p.Ala557=) c.1535C= c.1556C= (p.Ala519=) c.950C= (p.Ala317=) c.1520C= (p.Ala507=) | |
18 | g.57674983G>T | CA402561707 | ATP8B1 | c.1670C>A (p.Ala557Asp) c.1535C>A c.1556C>A (p.Ala519Asp) c.950C>A (p.Ala317Asp) c.1520C>A (p.Ala507Asp) | gnomAD v4 |
18 | g.57674984C>A | CA8974501 | ATP8B1 | c.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 |
18 | g.57674984C= | CA2306103191 | ATP8B1 | c.1669G= (p.Ala557=) c.1534G= c.1555G= (p.Ala519=) c.949G= (p.Ala317=) c.1519G= (p.Ala507=) | |
18 | g.57674984C>G | CA402561709 | ATP8B1 | c.1669G>C (p.Ala557Pro) c.1534G>C c.1555G>C (p.Ala519Pro) c.949G>C (p.Ala317Pro) c.1519G>C (p.Ala507Pro) | |
18 | g.57674984C>T | CA402561712 | ATP8B1 | c.1669G>A (p.Ala557Thr) c.1534G>A c.1555G>A (p.Ala519Thr) c.949G>A (p.Ala317Thr) c.1519G>A (p.Ala507Thr) | |
18 | g.57674985A>C | CA504021326 | ATP8B1 | c.1668T>G (p.Gly556=) c.1533T>G c.1554T>G (p.Gly518=) c.948T>G (p.Gly316=) c.1518T>G (p.Gly506=) | |
18 | g.57674985A>G | CA504021327 | ATP8B1 | c.1668T>C (p.Gly556=) c.1533T>C c.1554T>C (p.Gly518=) c.948T>C (p.Gly316=) c.1518T>C (p.Gly506=) | |
18 | g.57674985A>T | CA504021329 | ATP8B1 | c.1668T>A (p.Gly556=) c.1533T>A c.1554T>A (p.Gly518=) c.948T>A (p.Gly316=) c.1518T>A (p.Gly506=) | |
18 | g.57674985_57674986delinsAC | CA2306103192 | ATP8B1 | c.1667_1668delinsGT (p.Gly556=) c.1532_1533delinsGT c.1553_1554delinsGT (p.Gly518=) c.947_948delinsGT (p.Gly316=) c.1517_1518delinsGT (p.Gly506=) | |
18 | g.57674986C>A | CA402561720 | ATP8B1 | c.1667G>T (p.Gly556Val) c.1532G>T c.1553G>T (p.Gly518Val) c.947G>T (p.Gly316Val) c.1517G>T (p.Gly506Val) | |
18 | g.57674986C= | CA2306103193 | ATP8B1 | c.1667G= (p.Gly556=) c.1532G= c.1553G= (p.Gly518=) c.947G= (p.Gly316=) c.1517G= (p.Gly506=) | |
18 | g.57674986C>G | CA402561722 | ATP8B1 | c.1667G>C (p.Gly556Ala) c.1532G>C c.1553G>C (p.Gly518Ala) c.947G>C (p.Gly316Ala) c.1517G>C (p.Gly506Ala) | |
18 | g.57674986C>T | CA8974503 | ATP8B1 | c.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 |
18 | g.57674987del | CA8974502 | ATP8B1 | c.1667del (p.Gly556ValfsTer4) c.1532del c.1553del (p.Gly518ValfsTer4) c.947del (p.Gly316ValfsTer4) c.1517del (p.Gly506ValfsTer4) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.57674987C>A | CA402561735 | ATP8B1 | c.1666G>T (p.Gly556Cys) c.1531G>T c.1552G>T (p.Gly518Cys) c.946G>T (p.Gly316Cys) c.1516G>T (p.Gly506Cys) | |
18 | g.57674987C= | CA2306103194 | ATP8B1 | c.1666G= (p.Gly556=) c.1531G= c.1552G= (p.Gly518=) c.946G= (p.Gly316=) c.1516G= (p.Gly506=) | |
18 | g.57674987C>G | CA8974504 | ATP8B1 | c.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 |
18 | g.57674987C>T | CA402561742 | ATP8B1 | c.1666G>A (p.Gly556Ser) c.1531G>A c.1552G>A (p.Gly518Ser) c.946G>A (p.Gly316Ser) c.1516G>A (p.Gly506Ser) | |
18 | g.57674988T>A | CA402561746 | ATP8B1 | c.1665A>T (p.Glu555Asp) c.1530A>T c.1551A>T (p.Glu517Asp) c.945A>T (p.Glu315Asp) c.1515A>T (p.Glu505Asp) | |
18 | g.57674988T>C | CA504021336 | ATP8B1 | c.1665A>G (p.Glu555=) c.1530A>G c.1551A>G (p.Glu517=) c.945A>G (p.Glu315=) c.1515A>G (p.Glu505=) | |
18 | g.57674988T>G | CA402561748 | ATP8B1 | c.1665A>C (p.Glu555Asp) c.1530A>C c.1551A>C (p.Glu517Asp) c.945A>C (p.Glu315Asp) c.1515A>C (p.Glu505Asp) | |
18 | g.57674989T>A | CA402561752 | ATP8B1 | c.1664A>T (p.Glu555Val) c.1529A>T c.1550A>T (p.Glu517Val) c.944A>T (p.Glu315Val) c.1514A>T (p.Glu505Val) | |
18 | g.57674989T>C | CA402561753 | ATP8B1 | c.1664A>G (p.Glu555Gly) c.1529A>G c.1550A>G (p.Glu517Gly) c.944A>G (p.Glu315Gly) c.1514A>G (p.Glu505Gly) | |
18 | g.57674989T>G | CA402561754 | ATP8B1 | c.1664A>C (p.Glu555Ala) c.1529A>C c.1550A>C (p.Glu517Ala) c.944A>C (p.Glu315Ala) c.1514A>C (p.Glu505Ala) | |
18 | g.57674990C>A | CA402561757 | ATP8B1 | c.1663G>T (p.Glu555Ter) c.1528G>T c.1549G>T (p.Glu517Ter) c.943G>T (p.Glu315Ter) c.1513G>T (p.Glu505Ter) | |
18 | g.57674990C>G | CA402561760 | ATP8B1 | c.1663G>C (p.Glu555Gln) c.1528G>C c.1549G>C (p.Glu517Gln) c.943G>C (p.Glu315Gln) c.1513G>C (p.Glu505Gln) | |
18 | g.57674990C>T | CA402561765 | ATP8B1 | c.1663G>A (p.Glu555Lys) c.1528G>A c.1549G>A (p.Glu517Lys) c.943G>A (p.Glu315Lys) c.1513G>A (p.Glu505Lys) | |
18 | g.57674991A>C | CA402561780 | ATP8B1 | c.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 |
18 | g.57674991A>G | CA504021341 | ATP8B1 | c.1662T>C (p.Asp554=) c.1527T>C c.1548T>C (p.Asp516=) c.942T>C (p.Asp314=) c.1512T>C (p.Asp504=) | gnomAD v4 |
18 | g.57674991A>T | CA402561797 | ATP8B1 | c.1662T>A (p.Asp554Glu) c.1527T>A c.1548T>A (p.Asp516Glu) c.942T>A (p.Asp314Glu) c.1512T>A (p.Asp504Glu) | |
18 | g.57674992T>A | CA402561812 | ATP8B1 | c.1661A>T (p.Asp554Val) c.1526A>T c.1547A>T (p.Asp516Val) c.941A>T (p.Asp314Val) c.1511A>T (p.Asp504Val) | |
18 | g.57674992T>C | CA402561816 | ATP8B1 | c.1661A>G (p.Asp554Gly) c.1526A>G c.1547A>G (p.Asp516Gly) c.941A>G (p.Asp314Gly) c.1511A>G (p.Asp504Gly) | |
18 | g.57674992T>G | CA402561804 | ATP8B1 | c.1661A>C (p.Asp554Ala) c.1526A>C c.1547A>C (p.Asp516Ala) c.941A>C (p.Asp314Ala) c.1511A>C (p.Asp504Ala) | |
18 | g.57674993C>A | CA402561827 | ATP8B1 | c.1660G>T (p.Asp554Tyr) c.1525G>T c.1546G>T (p.Asp516Tyr) c.940G>T (p.Asp314Tyr) c.1510G>T (p.Asp504Tyr) | |
18 | g.57674993C= | CA2306103195 | ATP8B1 | c.1660G= (p.Asp554=) c.1525G= c.1546G= (p.Asp516=) c.940G= (p.Asp314=) c.1510G= (p.Asp504=) | |
18 | g.57674993C>G | CA402561820 | ATP8B1 | c.1660G>C (p.Asp554His) c.1525G>C c.1546G>C (p.Asp516His) c.940G>C (p.Asp314His) c.1510G>C (p.Asp504His) | |
18 | g.57674993C>T | CA340666 | ATP8B1 | c.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 |
18 | g.57674994G>A | CA8974505 | ATP8B1 | c.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 |
18 | g.57674994G>C | CA504021346 | ATP8B1 | c.1659C>G (p.Pro553=) c.1524C>G c.1545C>G (p.Pro515=) c.939C>G (p.Pro313=) c.1509C>G (p.Pro503=) | dbSNP |
18 | g.57674994G= | CA2306103196 | ATP8B1 | c.1659C= (p.Pro553=) c.1524C= c.1545C= (p.Pro515=) c.939C= (p.Pro313=) c.1509C= (p.Pro503=) | |
18 | g.57674994G>T | CA504021347 | ATP8B1 | c.1659C>A (p.Pro553=) c.1524C>A c.1545C>A (p.Pro515=) c.939C>A (p.Pro313=) c.1509C>A (p.Pro503=) | gnomAD v4 |
18 | g.57674995G>A | CA402561838 | ATP8B1 | c.1658C>T (p.Pro553Leu) c.1523C>T c.1544C>T (p.Pro515Leu) c.938C>T (p.Pro313Leu) c.1508C>T (p.Pro503Leu) | |
18 | g.57674995G>C | CA402561840 | ATP8B1 | c.1658C>G (p.Pro553Arg) c.1523C>G c.1544C>G (p.Pro515Arg) c.938C>G (p.Pro313Arg) c.1508C>G (p.Pro503Arg) | |
18 | g.57674995G>T | CA402561844 | ATP8B1 | c.1658C>A (p.Pro553His) c.1523C>A c.1544C>A (p.Pro515His) c.938C>A (p.Pro313His) c.1508C>A (p.Pro503His) | |
18 | g.57674996G>A | CA402561850 | ATP8B1 | c.1657C>T (p.Pro553Ser) c.1522C>T c.1543C>T (p.Pro515Ser) c.937C>T (p.Pro313Ser) c.1507C>T (p.Pro503Ser) | |
18 | g.57674996G>C | CA402561854 | ATP8B1 | c.1657C>G (p.Pro553Ala) c.1522C>G c.1543C>G (p.Pro515Ala) c.937C>G (p.Pro313Ala) c.1507C>G (p.Pro503Ala) | |
18 | g.57674996G>T | CA402561859 | ATP8B1 | c.1657C>A (p.Pro553Thr) c.1522C>A c.1543C>A (p.Pro515Thr) c.937C>A (p.Pro313Thr) c.1507C>A (p.Pro503Thr) | |
18 | g.57674997A= | CA2306103197 | ATP8B1 | c.1656T= (p.Ser552=) c.1521T= c.1542T= (p.Ser514=) c.936T= (p.Ser312=) c.1506T= (p.Ser502=) | |
18 | g.57674997A>C | CA504021350 | ATP8B1 | c.1656T>G (p.Ser552=) c.1521T>G c.1542T>G (p.Ser514=) c.936T>G (p.Ser312=) c.1506T>G (p.Ser502=) | |
18 | g.57674997A>G | CA504021352 | ATP8B1 | c.1656T>C (p.Ser552=) c.1521T>C c.1542T>C (p.Ser514=) c.936T>C (p.Ser312=) c.1506T>C (p.Ser502=) | dbSNP |
18 | g.57674997A>T | CA504021353 | ATP8B1 | c.1656T>A (p.Ser552=) c.1521T>A c.1542T>A (p.Ser514=) c.936T>A (p.Ser312=) c.1506T>A (p.Ser502=) | |
18 | g.57674998G>A | CA402561865 | ATP8B1 | c.1655C>T (p.Ser552Phe) c.1520C>T c.1541C>T (p.Ser514Phe) c.935C>T (p.Ser312Phe) c.1505C>T (p.Ser502Phe) | |
18 | g.57674998G>C | CA402561869 | ATP8B1 | c.1655C>G (p.Ser552Cys) c.1520C>G c.1541C>G (p.Ser514Cys) c.935C>G (p.Ser312Cys) c.1505C>G (p.Ser502Cys) | |
18 | g.57674998G>T | CA402561870 | ATP8B1 | c.1655C>A (p.Ser552Tyr) c.1520C>A c.1541C>A (p.Ser514Tyr) c.935C>A (p.Ser312Tyr) c.1505C>A (p.Ser502Tyr) | |
18 | g.57674999A>C | CA402561899 | ATP8B1 | c.1654T>G (p.Ser552Ala) c.1519T>G c.1540T>G (p.Ser514Ala) c.934T>G (p.Ser312Ala) c.1504T>G (p.Ser502Ala) | |
18 | g.57674999A>G | CA402561872 | ATP8B1 | c.1654T>C (p.Ser552Pro) c.1519T>C c.1540T>C (p.Ser514Pro) c.934T>C (p.Ser312Pro) c.1504T>C (p.Ser502Pro) | |
18 | g.57674999A>T | CA402561875 | ATP8B1 | c.1654T>A (p.Ser552Thr) c.1519T>A c.1540T>A (p.Ser514Thr) c.934T>A (p.Ser312Thr) c.1504T>A (p.Ser502Thr) | |
18 | g.57675000G>A | CA504021356 | ATP8B1 | c.1653C>T (p.Ala551=) c.1518C>T c.1539C>T (p.Ala513=) c.933C>T (p.Ala311=) c.1503C>T (p.Ala501=) | |
18 | g.57675000G>C | CA504021357 | ATP8B1 | c.1653C>G (p.Ala551=) c.1518C>G c.1539C>G (p.Ala513=) c.933C>G (p.Ala311=) c.1503C>G (p.Ala501=) | |
18 | g.57675000G>T | CA504021359 | ATP8B1 | c.1653C>A (p.Ala551=) c.1518C>A c.1539C>A (p.Ala513=) c.933C>A (p.Ala311=) c.1503C>A (p.Ala501=) | |
18 | g.57675001G>A | CA402561902 | ATP8B1 | c.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 |
18 | g.57675001G>C | CA402561910 | ATP8B1 | c.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 |
18 | g.57675001G= | CA2306103198 | ATP8B1 | c.1652C= (p.Ala551=) c.1517C= c.1538C= (p.Ala513=) c.932C= (p.Ala311=) c.1502C= (p.Ala501=) | |
18 | g.57675001G>T | CA402561914 | ATP8B1 | c.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 |
18 | g.57675002C>A | CA402561915 | ATP8B1 | c.1651G>T (p.Ala551Ser) c.1516G>T c.1537G>T (p.Ala513Ser) c.931G>T (p.Ala311Ser) c.1501G>T (p.Ala501Ser) | |
18 | g.57675002C= | CA2306103199 | ATP8B1 | c.1651G= (p.Ala551=) c.1516G= c.1537G= (p.Ala513=) c.931G= (p.Ala311=) c.1501G= (p.Ala501=) | |
18 | g.57675002C>G | CA402561916 | ATP8B1 | c.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 |
18 | g.57675002C>T | CA402561917 | ATP8B1 | c.1651G>A (p.Ala551Thr) c.1516G>A c.1537G>A (p.Ala513Thr) c.931G>A (p.Ala311Thr) c.1501G>A (p.Ala501Thr) | |
18 | g.57675003T>A | CA504021363 | ATP8B1 | c.1650A>T (p.Ala550=) c.1515A>T c.1536A>T (p.Ala512=) c.930A>T (p.Ala310=) c.1500A>T (p.Ala500=) | |
18 | g.57675003T>C | CA504021364 | ATP8B1 | c.1650A>G (p.Ala550=) c.1515A>G c.1536A>G (p.Ala512=) c.930A>G (p.Ala310=) c.1500A>G (p.Ala500=) | dbSNP |
18 | g.57675003T>G | CA504021365 | ATP8B1 | c.1650A>C (p.Ala550=) c.1515A>C c.1536A>C (p.Ala512=) c.930A>C (p.Ala310=) c.1500A>C (p.Ala500=) | |
18 | g.57675003T= | CA2306103200 | ATP8B1 | c.1650A= (p.Ala550=) c.1515A= c.1536A= (p.Ala512=) c.930A= (p.Ala310=) c.1500A= (p.Ala500=) | |
18 | g.57675004G>A | CA402561922 | ATP8B1 | c.1649C>T (p.Ala550Val) c.1514C>T c.1535C>T (p.Ala512Val) c.929C>T (p.Ala310Val) c.1499C>T (p.Ala500Val) | |
18 | g.57675004G>C | CA402561925 | ATP8B1 | c.1649C>G (p.Ala550Gly) c.1514C>G c.1535C>G (p.Ala512Gly) c.929C>G (p.Ala310Gly) c.1499C>G (p.Ala500Gly) | |
18 | g.57675004G>T | CA402561928 | ATP8B1 | c.1649C>A (p.Ala550Glu) c.1514C>A c.1535C>A (p.Ala512Glu) c.929C>A (p.Ala310Glu) c.1499C>A (p.Ala500Glu) | |
18 | g.57675005C>A | CA402561936 | ATP8B1 | c.1648G>T (p.Ala550Ser) c.1513G>T c.1534G>T (p.Ala512Ser) c.928G>T (p.Ala310Ser) c.1498G>T (p.Ala500Ser) | |
18 | g.57675005C>G | CA402561940 | ATP8B1 | c.1648G>C (p.Ala550Pro) c.1513G>C c.1534G>C (p.Ala512Pro) c.928G>C (p.Ala310Pro) c.1498G>C (p.Ala500Pro) | |
18 | g.57675005C>T | CA402561941 | ATP8B1 | c.1648G>A (p.Ala550Thr) c.1513G>A c.1534G>A (p.Ala512Thr) c.928G>A (p.Ala310Thr) c.1498G>A (p.Ala500Thr) | |
18 | g.57675006C>A | CA402561943 | ATP8B1 | c.1647G>T (p.Gln549His) c.1512G>T c.1533G>T (p.Gln511His) c.927G>T (p.Gln309His) c.1497G>T (p.Gln499His) | |
18 | g.57675006C= | CA2306103201 | ATP8B1 | c.1647G= (p.Gln549=) c.1512G= c.1533G= (p.Gln511=) c.927G= (p.Gln309=) c.1497G= (p.Gln499=) | |
18 | g.57675006C>G | CA402561942 | ATP8B1 | c.1647G>C (p.Gln549His) c.1512G>C c.1533G>C (p.Gln511His) c.927G>C (p.Gln309His) c.1497G>C (p.Gln499His) | gnomAD v4 |
18 | g.57675006C>T | CA504021370 | ATP8B1 | c.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 |
18 | g.57675007T>A | CA402561946 | ATP8B1 | c.1646A>T (p.Gln549Leu) c.1511A>T c.1532A>T (p.Gln511Leu) c.926A>T (p.Gln309Leu) c.1496A>T (p.Gln499Leu) | |
18 | g.57675007T>C | CA402561950 | ATP8B1 | c.1646A>G (p.Gln549Arg) c.1511A>G c.1532A>G (p.Gln511Arg) c.926A>G (p.Gln309Arg) c.1496A>G (p.Gln499Arg) | |
18 | g.57675007T>G | CA402561953 | ATP8B1 | c.1646A>C (p.Gln549Pro) c.1511A>C c.1532A>C (p.Gln511Pro) c.926A>C (p.Gln309Pro) c.1496A>C (p.Gln499Pro) | |
18 | g.57675008G>A | CA402561958 | ATP8B1 | c.1645C>T (p.Gln549Ter) c.1510C>T c.1531C>T (p.Gln511Ter) c.925C>T (p.Gln309Ter) c.1495C>T (p.Gln499Ter) | |
18 | g.57675008G>C | CA402561962 | ATP8B1 | c.1645C>G (p.Gln549Glu) c.1510C>G c.1531C>G (p.Gln511Glu) c.925C>G (p.Gln309Glu) c.1495C>G (p.Gln499Glu) | |
18 | g.57675008G>T | CA402561965 | ATP8B1 | c.1645C>A (p.Gln549Lys) c.1510C>A c.1531C>A (p.Gln511Lys) c.925C>A (p.Gln309Lys) c.1495C>A (p.Gln499Lys) | |
18 | g.57675009G>A | CA504021372 | ATP8B1 | c.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 |
18 | g.57675009G>C | CA402561970 | ATP8B1 | c.1644C>G (p.Tyr548Ter) c.1509C>G c.1530C>G (p.Tyr510Ter) c.924C>G (p.Tyr308Ter) c.1494C>G (p.Tyr498Ter) | |
18 | g.57675009G>T | CA402561971 | ATP8B1 | c.1644C>A (p.Tyr548Ter) c.1509C>A c.1530C>A (p.Tyr510Ter) c.924C>A (p.Tyr308Ter) c.1494C>A (p.Tyr498Ter) | gnomAD v4 |
18 | g.57675010T>A | CA402561972 | ATP8B1 | c.1643A>T (p.Tyr548Phe) c.1508A>T c.1529A>T (p.Tyr510Phe) c.923A>T (p.Tyr308Phe) c.1493A>T (p.Tyr498Phe) | |
18 | g.57675010T>C | CA402561973 | ATP8B1 | c.1643A>G (p.Tyr548Cys) c.1508A>G c.1529A>G (p.Tyr510Cys) c.923A>G (p.Tyr308Cys) c.1493A>G (p.Tyr498Cys) | |
18 | g.57675010T>G | CA402561975 | ATP8B1 | c.1643A>C (p.Tyr548Ser) c.1508A>C c.1529A>C (p.Tyr510Ser) c.923A>C (p.Tyr308Ser) c.1493A>C (p.Tyr498Ser) | dbSNP |
18 | g.57675010T= | CA2306103202 | ATP8B1 | c.1643A= (p.Tyr548=) c.1508A= c.1529A= (p.Tyr510=) c.923A= (p.Tyr308=) c.1493A= (p.Tyr498=) | |
18 | g.57675011A>C | CA402561979 | ATP8B1 | c.1642T>G (p.Tyr548Asp) c.1507T>G c.1528T>G (p.Tyr510Asp) c.922T>G (p.Tyr308Asp) c.1492T>G (p.Tyr498Asp) | |
18 | g.57675011A>G | CA402561980 | ATP8B1 | c.1642T>C (p.Tyr548His) c.1507T>C c.1528T>C (p.Tyr510His) c.922T>C (p.Tyr308His) c.1492T>C (p.Tyr498His) | |
18 | g.57675011A>T | CA402561981 | ATP8B1 | c.1642T>A (p.Tyr548Asn) c.1507T>A c.1528T>A (p.Tyr510Asn) c.922T>A (p.Tyr308Asn) c.1492T>A (p.Tyr498Asn) | |
18 | g.57675012G>A | CA504021378 | ATP8B1 | c.1641C>T (p.Asn547=) c.1506C>T c.1527C>T (p.Asn509=) c.921C>T (p.Asn307=) c.1491C>T (p.Asn497=) | |
18 | g.57675012G>C | CA402561984 | ATP8B1 | c.1641C>G (p.Asn547Lys) c.1506C>G c.1527C>G (p.Asn509Lys) c.921C>G (p.Asn307Lys) c.1491C>G (p.Asn497Lys) | |
18 | g.57675012G>T | CA402561982 | ATP8B1 | c.1641C>A (p.Asn547Lys) c.1506C>A c.1527C>A (p.Asn509Lys) c.921C>A (p.Asn307Lys) c.1491C>A (p.Asn497Lys) | |
18 | g.57675013T>A | CA402561989 | ATP8B1 | c.1640A>T (p.Asn547Ile) c.1505A>T c.1526A>T (p.Asn509Ile) c.920A>T (p.Asn307Ile) c.1490A>T (p.Asn497Ile) | |
18 | g.57675013T>C | CA402561994 | ATP8B1 | c.1640A>G (p.Asn547Ser) c.1505A>G c.1526A>G (p.Asn509Ser) c.920A>G (p.Asn307Ser) c.1490A>G (p.Asn497Ser) | |
18 | g.57675013T>G | CA402561995 | ATP8B1 | c.1640A>C (p.Asn547Thr) c.1505A>C c.1526A>C (p.Asn509Thr) c.920A>C (p.Asn307Thr) c.1490A>C (p.Asn497Thr) | dbSNP |
18 | g.57675013T= | CA2306103203 | ATP8B1 | c.1640A= (p.Asn547=) c.1505A= c.1526A= (p.Asn509=) c.920A= (p.Asn307=) c.1490A= (p.Asn497=) | |
18 | g.57675014T>A | CA402561996 | ATP8B1 | c.1639A>T (p.Asn547Tyr) c.1504A>T c.1525A>T (p.Asn509Tyr) c.919A>T (p.Asn307Tyr) c.1489A>T (p.Asn497Tyr) | |
18 | g.57675014T>C | CA402561997 | ATP8B1 | c.1639A>G (p.Asn547Asp) c.1504A>G c.1525A>G (p.Asn509Asp) c.919A>G (p.Asn307Asp) c.1489A>G (p.Asn497Asp) | |
18 | g.57675014T>G | CA402561999 | ATP8B1 | c.1639A>C (p.Asn547His) c.1504A>C c.1525A>C (p.Asn509His) c.919A>C (p.Asn307His) c.1489A>C (p.Asn497His) | |
18 | g.57675015G>A | CA504021382 | ATP8B1 | c.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 |
18 | g.57675015G>C | CA504021383 | ATP8B1 | c.1638C>G (p.Leu546=) c.1503C>G c.1524C>G (p.Leu508=) c.918C>G (p.Leu306=) c.1488C>G (p.Leu496=) | |
18 | g.57675015G= | CA2306103204 | ATP8B1 | c.1638C= (p.Leu546=) c.1503C= c.1524C= (p.Leu508=) c.918C= (p.Leu306=) c.1488C= (p.Leu496=) | |
18 | g.57675015G>T | CA504021384 | ATP8B1 | c.1638C>A (p.Leu546=) c.1503C>A c.1524C>A (p.Leu508=) c.918C>A (p.Leu306=) c.1488C>A (p.Leu496=) | |
18 | g.57675016A>C | CA402562005 | ATP8B1 | c.1637T>G (p.Leu546Arg) c.1502T>G c.1523T>G (p.Leu508Arg) c.917T>G (p.Leu306Arg) c.1487T>G (p.Leu496Arg) | |
18 | g.57675016A>G | CA402562009 | ATP8B1 | c.1637T>C (p.Leu546Pro) c.1502T>C c.1523T>C (p.Leu508Pro) c.917T>C (p.Leu306Pro) c.1487T>C (p.Leu496Pro) | |
18 | g.57675016A>T | CA402562024 | ATP8B1 | c.1637T>A (p.Leu546His) c.1502T>A c.1523T>A (p.Leu508His) c.917T>A (p.Leu306His) c.1487T>A (p.Leu496His) | |
18 | g.57675017G>A | CA402562027 | ATP8B1 | c.1636C>T (p.Leu546Phe) c.1501C>T c.1522C>T (p.Leu508Phe) c.916C>T (p.Leu306Phe) c.1486C>T (p.Leu496Phe) | |
18 | g.57675017G>C | CA402562029 | ATP8B1 | c.1636C>G (p.Leu546Val) c.1501C>G c.1522C>G (p.Leu508Val) c.916C>G (p.Leu306Val) c.1486C>G (p.Leu496Val) | |
18 | g.57675017G>T | CA402562031 | ATP8B1 | c.1636C>A (p.Leu546Ile) c.1501C>A c.1522C>A (p.Leu508Ile) c.916C>A (p.Leu306Ile) c.1486C>A (p.Leu496Ile) | |
18 | g.57675018C>A | CA8974506 | ATP8B1 | c.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 |
18 | g.57675018C= | CA2306103205 | ATP8B1 | c.1635G= (p.Gln545=) c.1500G= c.1521G= (p.Gln507=) c.915G= (p.Gln305=) c.1485G= (p.Gln495=) | |
18 | g.57675018C>G | CA402562035 | ATP8B1 | c.1635G>C (p.Gln545His) c.1500G>C c.1521G>C (p.Gln507His) c.915G>C (p.Gln305His) c.1485G>C (p.Gln495His) | |
18 | g.57675018C>T | CA504021388 | ATP8B1 | c.1635G>A (p.Gln545=) c.1500G>A c.1521G>A (p.Gln507=) c.915G>A (p.Gln305=) c.1485G>A (p.Gln495=) | |
18 | g.57675019T>A | CA402562043 | ATP8B1 | c.1634A>T (p.Gln545Leu) c.1499A>T c.1520A>T (p.Gln507Leu) c.914A>T (p.Gln305Leu) c.1484A>T (p.Gln495Leu) | |
18 | g.57675019T>C | CA402562047 | ATP8B1 | c.1634A>G (p.Gln545Arg) c.1499A>G c.1520A>G (p.Gln507Arg) c.914A>G (p.Gln305Arg) c.1484A>G (p.Gln495Arg) | |
18 | g.57675019T>G | CA402562040 | ATP8B1 | c.1634A>C (p.Gln545Pro) c.1499A>C c.1520A>C (p.Gln507Pro) c.914A>C (p.Gln305Pro) c.1484A>C (p.Gln495Pro) | |
18 | g.57675020G>A | CA402562052 | ATP8B1 | c.1633C>T (p.Gln545Ter) c.1498C>T c.1519C>T (p.Gln507Ter) c.913C>T (p.Gln305Ter) c.1483C>T (p.Gln495Ter) | |
18 | g.57675020G>C | CA402562050 | ATP8B1 | c.1633C>G (p.Gln545Glu) c.1498C>G c.1519C>G (p.Gln507Glu) c.913C>G (p.Gln305Glu) c.1483C>G (p.Gln495Glu) | |
18 | g.57675020G= | CA2306103206 | ATP8B1 | c.1633C= (p.Gln545=) c.1498C= c.1519C= (p.Gln507=) c.913C= (p.Gln305=) c.1483C= (p.Gln495=) | |
18 | g.57675020G>T | CA10606192 | ATP8B1 | c.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 |
18 | g.57675021A>C | CA504021389 | ATP8B1 | c.1632T>G (p.Gly544=) c.1497T>G c.1518T>G (p.Gly506=) c.912T>G (p.Gly304=) c.1482T>G (p.Gly494=) | |
18 | g.57675021A>G | CA504021391 | ATP8B1 | c.1632T>C (p.Gly544=) c.1497T>C c.1518T>C (p.Gly506=) c.912T>C (p.Gly304=) c.1482T>C (p.Gly494=) | |
18 | g.57675021A>T | CA504021392 | ATP8B1 | c.1632T>A (p.Gly544=) c.1497T>A c.1518T>A (p.Gly506=) c.912T>A (p.Gly304=) c.1482T>A (p.Gly494=) | gnomAD v4 |
18 | g.57675022C>A | CA402562055 | ATP8B1 | c.1631G>T (p.Gly544Val) c.1496G>T c.1517G>T (p.Gly506Val) c.911G>T (p.Gly304Val) c.1481G>T (p.Gly494Val) | |
18 | g.57675022C>G | CA402562059 | ATP8B1 | c.1631G>C (p.Gly544Ala) c.1496G>C c.1517G>C (p.Gly506Ala) c.911G>C (p.Gly304Ala) c.1481G>C (p.Gly494Ala) | |
18 | g.57675022C>T | CA402562064 | ATP8B1 | c.1631G>A (p.Gly544Asp) c.1496G>A c.1517G>A (p.Gly506Asp) c.911G>A (p.Gly304Asp) c.1481G>A (p.Gly494Asp) | gnomAD v4 |