| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.57674893G>A | CA402560890 | ATP8B1 | c.1760C>T (p.Thr587Ile) c.1625C>T c.1646C>T (p.Thr549Ile) c.1040C>T (p.Thr347Ile) c.1610C>T (p.Thr537Ile) | |
| 18 | g.57674893G>C | CA402560894 | ATP8B1 | c.1760C>G (p.Thr587Ser) c.1625C>G c.1646C>G (p.Thr549Ser) c.1040C>G (p.Thr347Ser) c.1610C>G (p.Thr537Ser) | |
| 18 | g.57674893G>T | CA402560892 | ATP8B1 | c.1760C>A (p.Thr587Asn) c.1625C>A c.1646C>A (p.Thr549Asn) c.1040C>A (p.Thr347Asn) c.1610C>A (p.Thr537Asn) | |
| 18 | g.57674894T>A | CA402560898 | ATP8B1 | c.1759A>T (p.Thr587Ser) c.1624A>T c.1645A>T (p.Thr549Ser) c.1039A>T (p.Thr347Ser) c.1609A>T (p.Thr537Ser) | |
| 18 | g.57674894T>C | CA402560902 | ATP8B1 | c.1759A>G (p.Thr587Ala) c.1624A>G c.1645A>G (p.Thr549Ala) c.1039A>G (p.Thr347Ala) c.1609A>G (p.Thr537Ala) | gnomAD v4 |
| 18 | g.57674894T>G | CA402560903 | ATP8B1 | c.1759A>C (p.Thr587Pro) c.1624A>C c.1645A>C (p.Thr549Pro) c.1039A>C (p.Thr347Pro) c.1609A>C (p.Thr537Pro) | |
| 18 | g.57674895C>A | CA402560909 | ATP8B1 | c.1758G>T (p.Arg586Ser) c.1623G>T c.1644G>T (p.Arg548Ser) c.1038G>T (p.Arg346Ser) c.1608G>T (p.Arg536Ser) | |
| 18 | g.57674895C>G | CA402560910 | ATP8B1 | c.1758G>C (p.Arg586Ser) c.1623G>C c.1644G>C (p.Arg548Ser) c.1038G>C (p.Arg346Ser) c.1608G>C (p.Arg536Ser) | |
| 18 | g.57674895C>T | CA504021213 | ATP8B1 | c.1758G>A (p.Arg586=) c.1623G>A c.1644G>A (p.Arg548=) c.1038G>A (p.Arg346=) c.1608G>A (p.Arg536=) | |
| 18 | g.57674896C>A | CA8974484 | ATP8B1 | c.1757G>T (p.Arg586Met) c.1622G>T c.1643G>T (p.Arg548Met) c.1037G>T (p.Arg346Met) c.1607G>T (p.Arg536Met) | dbSNP ExAC gnomAD v2 |
| 18 | g.57674896C= | CA2306103159 | ATP8B1 | c.1757G= (p.Arg586=) c.1622G= c.1643G= (p.Arg548=) c.1037G= (p.Arg346=) c.1607G= (p.Arg536=) | |
| 18 | g.57674896C>G | CA402560919 | ATP8B1 | c.1757G>C (p.Arg586Thr) c.1622G>C c.1643G>C (p.Arg548Thr) c.1037G>C (p.Arg346Thr) c.1607G>C (p.Arg536Thr) | |
| 18 | g.57674896C>T | CA300889105 | ATP8B1 | c.1757G>A (p.Arg586Lys) c.1622G>A c.1643G>A (p.Arg548Lys) c.1037G>A (p.Arg346Lys) c.1607G>A (p.Arg536Lys) | dbSNP gnomAD v4 |
| 18 | g.57674897T>A | CA402560930 | ATP8B1 | c.1756A>T (p.Arg586Trp) c.1621A>T c.1642A>T (p.Arg548Trp) c.1036A>T (p.Arg346Trp) c.1606A>T (p.Arg536Trp) | |
| 18 | g.57674897T>C | CA402560931 | ATP8B1 | c.1756A>G (p.Arg586Gly) c.1621A>G c.1642A>G (p.Arg548Gly) c.1036A>G (p.Arg346Gly) c.1606A>G (p.Arg536Gly) | |
| 18 | g.57674897T>G | CA504021214 | ATP8B1 | c.1756A>C (p.Arg586=) c.1621A>C c.1642A>C (p.Arg548=) c.1036A>C (p.Arg346=) c.1606A>C (p.Arg536=) | |
| 18 | g.57674898T>A | CA402560933 | ATP8B1 | c.1755A>T (p.Glu585Asp) c.1620A>T c.1641A>T (p.Glu547Asp) c.1035A>T (p.Glu345Asp) c.1605A>T (p.Glu535Asp) | |
| 18 | g.57674898T>C | CA504021215 | ATP8B1 | c.1755A>G (p.Glu585=) c.1620A>G c.1641A>G (p.Glu547=) c.1035A>G (p.Glu345=) c.1605A>G (p.Glu535=) | |
| 18 | g.57674898T>G | CA402560939 | ATP8B1 | c.1755A>C (p.Glu585Asp) c.1620A>C c.1641A>C (p.Glu547Asp) c.1035A>C (p.Glu345Asp) c.1605A>C (p.Glu535Asp) | |
| 18 | g.57674899T>A | CA402560942 | ATP8B1 | c.1754A>T (p.Glu585Val) c.1619A>T c.1640A>T (p.Glu547Val) c.1034A>T (p.Glu345Val) c.1604A>T (p.Glu535Val) | |
| 18 | g.57674899T>C | CA8974485 | ATP8B1 | c.1754A>G (p.Glu585Gly) c.1619A>G c.1640A>G (p.Glu547Gly) c.1034A>G (p.Glu345Gly) c.1604A>G (p.Glu535Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57674899T>G | CA402560944 | ATP8B1 | c.1754A>C (p.Glu585Ala) c.1619A>C c.1640A>C (p.Glu547Ala) c.1034A>C (p.Glu345Ala) c.1604A>C (p.Glu535Ala) | |
| 18 | g.57674899T= | CA2306103160 | ATP8B1 | c.1754A= (p.Glu585=) c.1619A= c.1640A= (p.Glu547=) c.1034A= (p.Glu345=) c.1604A= (p.Glu535=) | |
| 18 | g.57674900C>A | CA402560950 | ATP8B1 | c.1753G>T (p.Glu585Ter) c.1618G>T c.1639G>T (p.Glu547Ter) c.1033G>T (p.Glu345Ter) c.1603G>T (p.Glu535Ter) | dbSNP |
| 18 | g.57674900C= | CA2306103161 | ATP8B1 | c.1753G= (p.Glu585=) c.1618G= c.1639G= (p.Glu547=) c.1033G= (p.Glu345=) c.1603G= (p.Glu535=) | |
| 18 | g.57674900C>G | CA402560952 | ATP8B1 | c.1753G>C (p.Glu585Gln) c.1618G>C c.1639G>C (p.Glu547Gln) c.1033G>C (p.Glu345Gln) c.1603G>C (p.Glu535Gln) | |
| 18 | g.57674900C>T | CA402560960 | ATP8B1 | c.1753G>A (p.Glu585Lys) c.1618G>A c.1639G>A (p.Glu547Lys) c.1033G>A (p.Glu345Lys) c.1603G>A (p.Glu535Lys) | |
| 18 | g.57674901A= | CA2306103162 | ATP8B1 | c.1752T= (p.Thr584=) c.1617T= c.1638T= (p.Thr546=) c.1032T= (p.Thr344=) c.1602T= (p.Thr534=) | |
| 18 | g.57674901A>C | CA504021217 | ATP8B1 | c.1752T>G (p.Thr584=) c.1617T>G c.1638T>G (p.Thr546=) c.1032T>G (p.Thr344=) c.1602T>G (p.Thr534=) | |
| 18 | g.57674901A>G | CA8974486 | ATP8B1 | c.1752T>C (p.Thr584=) c.1617T>C c.1638T>C (p.Thr546=) c.1032T>C (p.Thr344=) c.1602T>C (p.Thr534=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57674901A>T | CA504021218 | ATP8B1 | c.1752T>A (p.Thr584=) c.1617T>A c.1638T>A (p.Thr546=) c.1032T>A (p.Thr344=) c.1602T>A (p.Thr534=) | |
| 18 | g.57674902G>A | CA8974487 | ATP8B1 | c.1751C>T (p.Thr584Ile) c.1616C>T c.1637C>T (p.Thr546Ile) c.1031C>T (p.Thr344Ile) c.1601C>T (p.Thr534Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.57674902G>C | CA402560967 | ATP8B1 | c.1751C>G (p.Thr584Ser) c.1616C>G c.1637C>G (p.Thr546Ser) c.1031C>G (p.Thr344Ser) c.1601C>G (p.Thr534Ser) | |
| 18 | g.57674902G= | CA2306103163 | ATP8B1 | c.1751C= (p.Thr584=) c.1616C= c.1637C= (p.Thr546=) c.1031C= (p.Thr344=) c.1601C= (p.Thr534=) | |
| 18 | g.57674902G>T | CA402560970 | ATP8B1 | c.1751C>A (p.Thr584Asn) c.1616C>A c.1637C>A (p.Thr546Asn) c.1031C>A (p.Thr344Asn) c.1601C>A (p.Thr534Asn) | |
| 18 | g.57674903T>A | CA8974488 | ATP8B1 | c.1750A>T (p.Thr584Ser) c.1615A>T c.1636A>T (p.Thr546Ser) c.1030A>T (p.Thr344Ser) c.1600A>T (p.Thr534Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57674903T>C | CA402560978 | ATP8B1 | c.1750A>G (p.Thr584Ala) c.1615A>G c.1636A>G (p.Thr546Ala) c.1030A>G (p.Thr344Ala) c.1600A>G (p.Thr534Ala) | |
| 18 | g.57674903T>G | CA402560982 | ATP8B1 | c.1750A>C (p.Thr584Pro) c.1615A>C c.1636A>C (p.Thr546Pro) c.1030A>C (p.Thr344Pro) c.1600A>C (p.Thr534Pro) | |
| 18 | g.57674903T= | CA2306103164 | ATP8B1 | c.1750A= (p.Thr584=) c.1615A= c.1636A= (p.Thr546=) c.1030A= (p.Thr344=) c.1600A= (p.Thr534=) | |
| 18 | g.57674904G>A | CA504021219 | ATP8B1 | c.1749C>T (p.Gly583=) c.1614C>T c.1635C>T (p.Gly545=) c.1029C>T (p.Gly343=) c.1599C>T (p.Gly533=) | gnomAD v4 |
| 18 | g.57674904G>C | CA504021220 | ATP8B1 | c.1749C>G (p.Gly583=) c.1614C>G c.1635C>G (p.Gly545=) c.1029C>G (p.Gly343=) c.1599C>G (p.Gly533=) | |
| 18 | g.57674904G>T | CA504021221 | ATP8B1 | c.1749C>A (p.Gly583=) c.1614C>A c.1635C>A (p.Gly545=) c.1029C>A (p.Gly343=) c.1599C>A (p.Gly533=) | |
| 18 | g.57674905C>A | CA402560986 | ATP8B1 | c.1748G>T (p.Gly583Val) c.1613G>T c.1634G>T (p.Gly545Val) c.1028G>T (p.Gly343Val) c.1598G>T (p.Gly533Val) | |
| 18 | g.57674905C>G | CA402560988 | ATP8B1 | c.1748G>C (p.Gly583Ala) c.1613G>C c.1634G>C (p.Gly545Ala) c.1028G>C (p.Gly343Ala) c.1598G>C (p.Gly533Ala) | |
| 18 | g.57674905C>T | CA402560990 | ATP8B1 | c.1748G>A (p.Gly583Asp) c.1613G>A c.1634G>A (p.Gly545Asp) c.1028G>A (p.Gly343Asp) c.1598G>A (p.Gly533Asp) | |
| 18 | g.57674906C>A | CA402560996 | ATP8B1 | c.1747G>T (p.Gly583Cys) c.1612G>T c.1633G>T (p.Gly545Cys) c.1027G>T (p.Gly343Cys) c.1597G>T (p.Gly533Cys) | |
| 18 | g.57674906C>G | CA402561003 | ATP8B1 | c.1747G>C (p.Gly583Arg) c.1612G>C c.1633G>C (p.Gly545Arg) c.1027G>C (p.Gly343Arg) c.1597G>C (p.Gly533Arg) | |
| 18 | g.57674906C>T | CA402561000 | ATP8B1 | c.1747G>A (p.Gly583Ser) c.1612G>A c.1633G>A (p.Gly545Ser) c.1027G>A (p.Gly343Ser) c.1597G>A (p.Gly533Ser) | |
| 18 | g.57674907C>A | CA504021222 | ATP8B1 | c.1746G>T (p.Leu582=) c.1611G>T c.1632G>T (p.Leu544=) c.1026G>T (p.Leu342=) c.1596G>T (p.Leu532=) | |
| 18 | g.57674907C>G | CA504021224 | ATP8B1 | c.1746G>C (p.Leu582=) c.1611G>C c.1632G>C (p.Leu544=) c.1026G>C (p.Leu342=) c.1596G>C (p.Leu532=) |