| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.57674844C>A | CA402560587 | ATP8B1 | c.1809G>T (p.Met603Ile) c.1674G>T c.1695G>T (p.Met565Ile) c.1089G>T (p.Met363Ile) c.1659G>T (p.Met553Ile) | |
| 18 | g.57674844C= | CA2306103145 | ATP8B1 | c.1809G= (p.Met603=) c.1674G= c.1695G= (p.Met565=) c.1089G= (p.Met363=) c.1659G= (p.Met553=) | |
| 18 | g.57674844C>G | CA402560583 | ATP8B1 | c.1809G>C (p.Met603Ile) c.1674G>C c.1695G>C (p.Met565Ile) c.1089G>C (p.Met363Ile) c.1659G>C (p.Met553Ile) | |
| 18 | g.57674844C>T | CA8974474 | ATP8B1 | c.1809G>A (p.Met603Ile) c.1674G>A c.1695G>A (p.Met565Ile) c.1089G>A (p.Met363Ile) c.1659G>A (p.Met553Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.57674845A>C | CA402560593 | ATP8B1 | c.1808T>G (p.Met603Arg) c.1673T>G c.1694T>G (p.Met565Arg) c.1088T>G (p.Met363Arg) c.1658T>G (p.Met553Arg) | |
| 18 | g.57674845A>G | CA402560594 | ATP8B1 | c.1808T>C (p.Met603Thr) c.1673T>C c.1694T>C (p.Met565Thr) c.1088T>C (p.Met363Thr) c.1658T>C (p.Met553Thr) | gnomAD v4 |
| 18 | g.57674845A>T | CA402560597 | ATP8B1 | c.1808T>A (p.Met603Lys) c.1673T>A c.1694T>A (p.Met565Lys) c.1088T>A (p.Met363Lys) c.1658T>A (p.Met553Lys) | |
| 18 | g.57674846T>A | CA402560600 | ATP8B1 | c.1807A>T (p.Met603Leu) c.1672A>T c.1693A>T (p.Met565Leu) c.1087A>T (p.Met363Leu) c.1657A>T (p.Met553Leu) | |
| 18 | g.57674846T>C | CA8974475 | ATP8B1 | c.1807A>G (p.Met603Val) c.1672A>G c.1693A>G (p.Met565Val) c.1087A>G (p.Met363Val) c.1657A>G (p.Met553Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.57674846T>G | CA402560605 | ATP8B1 | c.1807A>C (p.Met603Leu) c.1672A>C c.1693A>C (p.Met565Leu) c.1087A>C (p.Met363Leu) c.1657A>C (p.Met553Leu) | |
| 18 | g.57674846T= | CA2306103146 | ATP8B1 | c.1807A= (p.Met603=) c.1672A= c.1693A= (p.Met565=) c.1087A= (p.Met363=) c.1657A= (p.Met553=) | |
| 18 | g.57674847T>A | CA504021183 | ATP8B1 | c.1806A>T (p.Arg602=) c.1671A>T c.1692A>T (p.Arg564=) c.1086A>T (p.Arg362=) c.1656A>T (p.Arg552=) | |
| 18 | g.57674847T>C | CA504021184 | ATP8B1 | c.1806A>G (p.Arg602=) c.1671A>G c.1692A>G (p.Arg564=) c.1086A>G (p.Arg362=) c.1656A>G (p.Arg552=) | |
| 18 | g.57674847T>G | CA504021185 | ATP8B1 | c.1806A>C (p.Arg602=) c.1671A>C c.1692A>C (p.Arg564=) c.1086A>C (p.Arg362=) c.1656A>C (p.Arg552=) | |
| 18 | g.57674848C>A | CA402560612 | ATP8B1 | c.1805G>T (p.Arg602Leu) c.1670G>T c.1691G>T (p.Arg564Leu) c.1085G>T (p.Arg362Leu) c.1655G>T (p.Arg552Leu) | |
| 18 | g.57674848C= | CA2306103147 | ATP8B1 | c.1805G= (p.Arg602=) c.1670G= c.1691G= (p.Arg564=) c.1085G= (p.Arg362=) c.1655G= (p.Arg552=) | |
| 18 | g.57674848C>G | CA402560608 | ATP8B1 | c.1805G>C (p.Arg602Pro) c.1670G>C c.1691G>C (p.Arg564Pro) c.1085G>C (p.Arg362Pro) c.1655G>C (p.Arg552Pro) | |
| 18 | g.57674848C>T | CA8974476 | ATP8B1 | c.1805G>A (p.Arg602Gln) c.1670G>A c.1691G>A (p.Arg564Gln) c.1085G>A (p.Arg362Gln) c.1655G>A (p.Arg552Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57674849G>A | CA254138 | ATP8B1 | c.1804C>T (p.Arg602Ter) c.1669C>T c.1690C>T (p.Arg564Ter) c.1084C>T (p.Arg362Ter) c.1654C>T (p.Arg552Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.57674849G>C | CA402560615 | ATP8B1 | c.1804C>G (p.Arg602Gly) c.1669C>G c.1690C>G (p.Arg564Gly) c.1084C>G (p.Arg362Gly) c.1654C>G (p.Arg552Gly) | |
| 18 | g.57674849G= | CA2306103148 | ATP8B1 | c.1804C= (p.Arg602=) c.1669C= c.1690C= (p.Arg564=) c.1084C= (p.Arg362=) c.1654C= (p.Arg552=) | |
| 18 | g.57674849G>T | CA504021186 | ATP8B1 | c.1804C>A (p.Arg602=) c.1669C>A c.1690C>A (p.Arg564=) c.1084C>A (p.Arg362=) c.1654C>A (p.Arg552=) | |
| 18 | g.57674850C>A | CA402560617 | ATP8B1 | c.1803G>T (p.Lys601Asn) c.1668G>T c.1689G>T (p.Lys563Asn) c.1083G>T (p.Lys361Asn) c.1653G>T (p.Lys551Asn) | |
| 18 | g.57674850C= | CA2306103149 | ATP8B1 | c.1803G= (p.Lys601=) c.1668G= c.1689G= (p.Lys563=) c.1083G= (p.Lys361=) c.1653G= (p.Lys551=) | |
| 18 | g.57674850C>G | CA8974477 | ATP8B1 | c.1803G>C (p.Lys601Asn) c.1668G>C c.1689G>C (p.Lys563Asn) c.1083G>C (p.Lys361Asn) c.1653G>C (p.Lys551Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57674850C>T | CA8974478 | ATP8B1 | c.1803G>A (p.Lys601=) c.1668G>A c.1689G>A (p.Lys563=) c.1083G>A (p.Lys361=) c.1653G>A (p.Lys551=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57674851T>A | CA402560635 | ATP8B1 | c.1802A>T (p.Lys601Met) c.1667A>T c.1688A>T (p.Lys563Met) c.1082A>T (p.Lys361Met) c.1652A>T (p.Lys551Met) | |
| 18 | g.57674851T>C | CA8974479 | ATP8B1 | c.1802A>G (p.Lys601Arg) c.1667A>G c.1688A>G (p.Lys563Arg) c.1082A>G (p.Lys361Arg) c.1652A>G (p.Lys551Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.57674851T>G | CA402560636 | ATP8B1 | c.1802A>C (p.Lys601Thr) c.1667A>C c.1688A>C (p.Lys563Thr) c.1082A>C (p.Lys361Thr) c.1652A>C (p.Lys551Thr) | |
| 18 | g.57674851T= | CA2306103150 | ATP8B1 | c.1802A= (p.Lys601=) c.1667A= c.1688A= (p.Lys563=) c.1082A= (p.Lys361=) c.1652A= (p.Lys551=) | |
| 18 | g.57674852T>A | CA402560641 | ATP8B1 | c.1801A>T (p.Lys601Ter) c.1666A>T c.1687A>T (p.Lys563Ter) c.1081A>T (p.Lys361Ter) c.1651A>T (p.Lys551Ter) | |
| 18 | g.57674852T>C | CA402560643 | ATP8B1 | c.1801A>G (p.Lys601Glu) c.1666A>G c.1687A>G (p.Lys563Glu) c.1081A>G (p.Lys361Glu) c.1651A>G (p.Lys551Glu) | |
| 18 | g.57674852T>G | CA402560645 | ATP8B1 | c.1801A>C (p.Lys601Gln) c.1666A>C c.1687A>C (p.Lys563Gln) c.1081A>C (p.Lys361Gln) c.1651A>C (p.Lys551Gln) | |
| 18 | g.57674853C>A | CA504021189 | ATP8B1 | c.1800G>T (p.Arg600=) c.1665G>T c.1686G>T (p.Arg562=) c.1080G>T (p.Arg360=) c.1650G>T (p.Arg550=) | |
| 18 | g.57674853C>G | CA504021188 | ATP8B1 | c.1800G>C (p.Arg600=) c.1665G>C c.1686G>C (p.Arg562=) c.1080G>C (p.Arg360=) c.1650G>C (p.Arg550=) | |
| 18 | g.57674853C>T | CA504021187 | ATP8B1 | c.1800G>A (p.Arg600=) c.1665G>A c.1686G>A (p.Arg562=) c.1080G>A (p.Arg360=) c.1650G>A (p.Arg550=) | |
| 18 | g.57674854C>A | CA402560648 | ATP8B1 | c.1799G>T (p.Arg600Leu) c.1664G>T c.1685G>T (p.Arg562Leu) c.1079G>T (p.Arg360Leu) c.1649G>T (p.Arg550Leu) | |
| 18 | g.57674854C= | CA2306103151 | ATP8B1 | c.1799G= (p.Arg600=) c.1664G= c.1685G= (p.Arg562=) c.1079G= (p.Arg360=) c.1649G= (p.Arg550=) | |
| 18 | g.57674854C>G | CA402560650 | ATP8B1 | c.1799G>C (p.Arg600Pro) c.1664G>C c.1685G>C (p.Arg562Pro) c.1079G>C (p.Arg360Pro) c.1649G>C (p.Arg550Pro) | |
| 18 | g.57674854C>T | CA402560651 | ATP8B1 | c.1799G>A (p.Arg600Gln) c.1664G>A c.1685G>A (p.Arg562Gln) c.1079G>A (p.Arg360Gln) c.1649G>A (p.Arg550Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57674855G>A | CA402560653 | ATP8B1 | c.1798C>T (p.Arg600Trp) c.1663C>T c.1684C>T (p.Arg562Trp) c.1078C>T (p.Arg360Trp) c.1648C>T (p.Arg550Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57674855G>C | CA402560656 | ATP8B1 | c.1798C>G (p.Arg600Gly) c.1663C>G c.1684C>G (p.Arg562Gly) c.1078C>G (p.Arg360Gly) c.1648C>G (p.Arg550Gly) | |
| 18 | g.57674855G= | CA2306103152 | ATP8B1 | c.1798C= (p.Arg600=) c.1663C= c.1684C= (p.Arg562=) c.1078C= (p.Arg360=) c.1648C= (p.Arg550=) | |
| 18 | g.57674855G>T | CA8974480 | ATP8B1 | c.1798C>A (p.Arg600=) c.1663C>A c.1684C>A (p.Arg562=) c.1078C>A (p.Arg360=) c.1648C>A (p.Arg550=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.57674856G>A | CA504021190 | ATP8B1 | c.1797C>T (p.Asp599=) c.1662C>T c.1683C>T (p.Asp561=) c.1077C>T (p.Asp359=) c.1647C>T (p.Asp549=) | gnomAD v4 |
| 18 | g.57674856G>C | CA402560659 | ATP8B1 | c.1797C>G (p.Asp599Glu) c.1662C>G c.1683C>G (p.Asp561Glu) c.1077C>G (p.Asp359Glu) c.1647C>G (p.Asp549Glu) | |
| 18 | g.57674856G>T | CA402560660 | ATP8B1 | c.1797C>A (p.Asp599Glu) c.1662C>A c.1683C>A (p.Asp561Glu) c.1077C>A (p.Asp359Glu) c.1647C>A (p.Asp549Glu) | gnomAD v4 |
| 18 | g.57674857T>A | CA402560666 | ATP8B1 | c.1796A>T (p.Asp599Val) c.1661A>T c.1682A>T (p.Asp561Val) c.1076A>T (p.Asp359Val) c.1646A>T (p.Asp549Val) | |
| 18 | g.57674857T>C | CA402560664 | ATP8B1 | c.1796A>G (p.Asp599Gly) c.1661A>G c.1682A>G (p.Asp561Gly) c.1076A>G (p.Asp359Gly) c.1646A>G (p.Asp549Gly) | |
| 18 | g.57674857T>G | CA402560662 | ATP8B1 | c.1796A>C (p.Asp599Ala) c.1661A>C c.1682A>C (p.Asp561Ala) c.1076A>C (p.Asp359Ala) c.1646A>C (p.Asp549Ala) | |
| 18 | g.57674858C>A | CA402560668 | ATP8B1 | c.1795G>T (p.Asp599Tyr) c.1660G>T c.1681G>T (p.Asp561Tyr) c.1075G>T (p.Asp359Tyr) c.1645G>T (p.Asp549Tyr) | gnomAD v4 |
| 18 | g.57674858C>G | CA402560672 | ATP8B1 | c.1795G>C (p.Asp599His) c.1660G>C c.1681G>C (p.Asp561His) c.1075G>C (p.Asp359His) c.1645G>C (p.Asp549His) | |
| 18 | g.57674858C>T | CA402560670 | ATP8B1 | c.1795G>A (p.Asp599Asn) c.1660G>A c.1681G>A (p.Asp561Asn) c.1075G>A (p.Asp359Asn) c.1645G>A (p.Asp549Asn) | gnomAD v4 |
| 18 | g.57674859A>C | CA402560673 | ATP8B1 | c.1794T>G (p.Ser598Arg) c.1659T>G c.1680T>G (p.Ser560Arg) c.1074T>G (p.Ser358Arg) c.1644T>G (p.Ser548Arg) | |
| 18 | g.57674859A>G | CA504021191 | ATP8B1 | c.1794T>C (p.Ser598=) c.1659T>C c.1680T>C (p.Ser560=) c.1074T>C (p.Ser358=) c.1644T>C (p.Ser548=) | |
| 18 | g.57674859A>T | CA402560675 | ATP8B1 | c.1794T>A (p.Ser598Arg) c.1659T>A c.1680T>A (p.Ser560Arg) c.1074T>A (p.Ser358Arg) c.1644T>A (p.Ser548Arg) | |
| 18 | g.57674860C>A | CA402560676 | ATP8B1 | c.1793G>T (p.Ser598Ile) c.1658G>T c.1679G>T (p.Ser560Ile) c.1073G>T (p.Ser358Ile) c.1643G>T (p.Ser548Ile) | |
| 18 | g.57674860C>G | CA402560682 | ATP8B1 | c.1793G>C (p.Ser598Thr) c.1658G>C c.1679G>C (p.Ser560Thr) c.1073G>C (p.Ser358Thr) c.1643G>C (p.Ser548Thr) | |
| 18 | g.57674860C>T | CA402560678 | ATP8B1 | c.1793G>A (p.Ser598Asn) c.1658G>A c.1679G>A (p.Ser560Asn) c.1073G>A (p.Ser358Asn) c.1643G>A (p.Ser548Asn) | |
| 18 | g.57674861T>A | CA402560684 | ATP8B1 | c.1792A>T (p.Ser598Cys) c.1657A>T c.1678A>T (p.Ser560Cys) c.1072A>T (p.Ser358Cys) c.1642A>T (p.Ser548Cys) | |
| 18 | g.57674861T>C | CA402560685 | ATP8B1 | c.1792A>G (p.Ser598Gly) c.1657A>G c.1678A>G (p.Ser560Gly) c.1072A>G (p.Ser358Gly) c.1642A>G (p.Ser548Gly) | |
| 18 | g.57674861T>G | CA402560686 | ATP8B1 | c.1792A>C (p.Ser598Arg) c.1657A>C c.1678A>C (p.Ser560Arg) c.1072A>C (p.Ser358Arg) c.1642A>C (p.Ser548Arg) | |
| 18 | g.57674862G>A | CA504021192 | ATP8B1 | c.1791C>T (p.Asn597=) c.1656C>T c.1677C>T (p.Asn559=) c.1071C>T (p.Asn357=) c.1641C>T (p.Asn547=) | gnomAD v4 |
| 18 | g.57674862G>C | CA402560687 | ATP8B1 | c.1791C>G (p.Asn597Lys) c.1656C>G c.1677C>G (p.Asn559Lys) c.1071C>G (p.Asn357Lys) c.1641C>G (p.Asn547Lys) | |
| 18 | g.57674862G>T | CA402560689 | ATP8B1 | c.1791C>A (p.Asn597Lys) c.1656C>A c.1677C>A (p.Asn559Lys) c.1071C>A (p.Asn357Lys) c.1641C>A (p.Asn547Lys) | |
| 18 | g.57674863T>A | CA402560691 | ATP8B1 | c.1790A>T (p.Asn597Ile) c.1655A>T c.1676A>T (p.Asn559Ile) c.1070A>T (p.Asn357Ile) c.1640A>T (p.Asn547Ile) | |
| 18 | g.57674863T>C | CA402560695 | ATP8B1 | c.1790A>G (p.Asn597Ser) c.1655A>G c.1676A>G (p.Asn559Ser) c.1070A>G (p.Asn357Ser) c.1640A>G (p.Asn547Ser) | |
| 18 | g.57674863T>G | CA402560696 | ATP8B1 | c.1790A>C (p.Asn597Thr) c.1655A>C c.1676A>C (p.Asn559Thr) c.1070A>C (p.Asn357Thr) c.1640A>C (p.Asn547Thr) | |
| 18 | g.57674864T>A | CA402560699 | ATP8B1 | c.1789A>T (p.Asn597Tyr) c.1654A>T c.1675A>T (p.Asn559Tyr) c.1069A>T (p.Asn357Tyr) c.1639A>T (p.Asn547Tyr) | |
| 18 | g.57674864T>C | CA402560701 | ATP8B1 | c.1789A>G (p.Asn597Asp) c.1654A>G c.1675A>G (p.Asn559Asp) c.1069A>G (p.Asn357Asp) c.1639A>G (p.Asn547Asp) | |
| 18 | g.57674864T>G | CA402560703 | ATP8B1 | c.1789A>C (p.Asn597His) c.1654A>C c.1675A>C (p.Asn559His) c.1069A>C (p.Asn357His) c.1639A>C (p.Asn547His) | |
| 18 | g.57674865G>A | CA504021193 | ATP8B1 | c.1788C>T (p.Phe596=) c.1653C>T c.1674C>T (p.Phe558=) c.1068C>T (p.Phe356=) c.1638C>T (p.Phe546=) | |
| 18 | g.57674865G>C | CA8974481 | ATP8B1 | c.1788C>G (p.Phe596Leu) c.1653C>G c.1674C>G (p.Phe558Leu) c.1068C>G (p.Phe356Leu) c.1638C>G (p.Phe546Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.57674865G= | CA2306103153 | ATP8B1 | c.1788C= (p.Phe596=) c.1653C= c.1674C= (p.Phe558=) c.1068C= (p.Phe356=) c.1638C= (p.Phe546=) | |
| 18 | g.57674865G>T | CA402560706 | ATP8B1 | c.1788C>A (p.Phe596Leu) c.1653C>A c.1674C>A (p.Phe558Leu) c.1068C>A (p.Phe356Leu) c.1638C>A (p.Phe546Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.57674866A>C | CA402560709 | ATP8B1 | c.1787T>G (p.Phe596Cys) c.1652T>G c.1673T>G (p.Phe558Cys) c.1067T>G (p.Phe356Cys) c.1637T>G (p.Phe546Cys) | |
| 18 | g.57674866A>G | CA402560712 | ATP8B1 | c.1787T>C (p.Phe596Ser) c.1652T>C c.1673T>C (p.Phe558Ser) c.1067T>C (p.Phe356Ser) c.1637T>C (p.Phe546Ser) | |
| 18 | g.57674866A>T | CA402560713 | ATP8B1 | c.1787T>A (p.Phe596Tyr) c.1652T>A c.1673T>A (p.Phe558Tyr) c.1067T>A (p.Phe356Tyr) c.1637T>A (p.Phe546Tyr) | |
| 18 | g.57674867A>C | CA402560720 | ATP8B1 | c.1786T>G (p.Phe596Val) c.1651T>G c.1672T>G (p.Phe558Val) c.1066T>G (p.Phe356Val) c.1636T>G (p.Phe546Val) | |
| 18 | g.57674867A>G | CA402560721 | ATP8B1 | c.1786T>C (p.Phe596Leu) c.1651T>C c.1672T>C (p.Phe558Leu) c.1066T>C (p.Phe356Leu) c.1636T>C (p.Phe546Leu) | |
| 18 | g.57674867A>T | CA402560722 | ATP8B1 | c.1786T>A (p.Phe596Ile) c.1651T>A c.1672T>A (p.Phe558Ile) c.1066T>A (p.Phe356Ile) c.1636T>A (p.Phe546Ile) | |
| 18 | g.57674868G>A | CA504021194 | ATP8B1 | c.1785C>T (p.Asp595=) c.1650C>T c.1671C>T (p.Asp557=) c.1065C>T (p.Asp355=) c.1635C>T (p.Asp545=) | gnomAD v4 |
| 18 | g.57674868G>C | CA402560724 | ATP8B1 | c.1785C>G (p.Asp595Glu) c.1650C>G c.1671C>G (p.Asp557Glu) c.1065C>G (p.Asp355Glu) c.1635C>G (p.Asp545Glu) | dbSNP |
| 18 | g.57674868G= | CA2306103154 | ATP8B1 | c.1785C= (p.Asp595=) c.1650C= c.1671C= (p.Asp557=) c.1065C= (p.Asp355=) c.1635C= (p.Asp545=) | |
| 18 | g.57674868G>T | CA402560726 | ATP8B1 | c.1785C>A (p.Asp595Glu) c.1650C>A c.1671C>A (p.Asp557Glu) c.1065C>A (p.Asp355Glu) c.1635C>A (p.Asp545Glu) | |
| 18 | g.57674869T>A | CA402560730 | ATP8B1 | c.1784A>T (p.Asp595Val) c.1649A>T c.1670A>T (p.Asp557Val) c.1064A>T (p.Asp355Val) c.1634A>T (p.Asp545Val) | |
| 18 | g.57674869T>C | CA402560731 | ATP8B1 | c.1784A>G (p.Asp595Gly) c.1649A>G c.1670A>G (p.Asp557Gly) c.1064A>G (p.Asp355Gly) c.1634A>G (p.Asp545Gly) | |
| 18 | g.57674869T>G | CA402560734 | ATP8B1 | c.1784A>C (p.Asp595Ala) c.1649A>C c.1670A>C (p.Asp557Ala) c.1064A>C (p.Asp355Ala) c.1634A>C (p.Asp545Ala) | |
| 18 | g.57674870C>A | CA402560739 | ATP8B1 | c.1783G>T (p.Asp595Tyr) c.1648G>T c.1669G>T (p.Asp557Tyr) c.1063G>T (p.Asp355Tyr) c.1633G>T (p.Asp545Tyr) | |
| 18 | g.57674870C>G | CA402560741 | ATP8B1 | c.1783G>C (p.Asp595His) c.1648G>C c.1669G>C (p.Asp557His) c.1063G>C (p.Asp355His) c.1633G>C (p.Asp545His) | COSMIC |
| 18 | g.57674870C>T | CA402560737 | ATP8B1 | c.1783G>A (p.Asp595Asn) c.1648G>A c.1669G>A (p.Asp557Asn) c.1063G>A (p.Asp355Asn) c.1633G>A (p.Asp545Asn) | |
| 18 | g.57674871C>A | CA402560742 | ATP8B1 | c.1782G>T (p.Leu594Phe) c.1647G>T c.1668G>T (p.Leu556Phe) c.1062G>T (p.Leu354Phe) c.1632G>T (p.Leu544Phe) | |
| 18 | g.57674871C>G | CA402560743 | ATP8B1 | c.1782G>C (p.Leu594Phe) c.1647G>C c.1668G>C (p.Leu556Phe) c.1062G>C (p.Leu354Phe) c.1632G>C (p.Leu544Phe) | |
| 18 | g.57674871C>T | CA504021195 | ATP8B1 | c.1782G>A (p.Leu594=) c.1647G>A c.1668G>A (p.Leu556=) c.1062G>A (p.Leu354=) c.1632G>A (p.Leu544=) | gnomAD v4 |
| 18 | g.57674872A>C | CA402560744 | ATP8B1 | c.1781T>G (p.Leu594Trp) c.1646T>G c.1667T>G (p.Leu556Trp) c.1061T>G (p.Leu354Trp) c.1631T>G (p.Leu544Trp) | ClinVar |
| 18 | g.57674872A>G | CA402560747 | ATP8B1 | c.1781T>C (p.Leu594Ser) c.1646T>C c.1667T>C (p.Leu556Ser) c.1061T>C (p.Leu354Ser) c.1631T>C (p.Leu544Ser) | |
| 18 | g.57674872A>T | CA402560749 | ATP8B1 | c.1781T>A (p.Leu594Ter) c.1646T>A c.1667T>A (p.Leu556Ter) c.1061T>A (p.Leu354Ter) c.1631T>A (p.Leu544Ter) | ClinVar gnomAD v4 |
| 18 | g.57674873A>C | CA402560752 | ATP8B1 | c.1780T>G (p.Leu594Val) c.1645T>G c.1666T>G (p.Leu556Val) c.1060T>G (p.Leu354Val) c.1630T>G (p.Leu544Val) | |
| 18 | g.57674873A>G | CA504021196 | ATP8B1 | c.1780T>C (p.Leu594=) c.1645T>C c.1666T>C (p.Leu556=) c.1060T>C (p.Leu354=) c.1630T>C (p.Leu544=) | |
| 18 | g.57674873A>T | CA402560753 | ATP8B1 | c.1780T>A (p.Leu594Met) c.1645T>A c.1666T>A (p.Leu556Met) c.1060T>A (p.Leu354Met) c.1630T>A (p.Leu544Met) | |
| 18 | g.57674874A= | CA2306103155 | ATP8B1 | c.1779T= (p.Ile593=) c.1644T= c.1665T= (p.Ile555=) c.1059T= (p.Ile353=) c.1629T= (p.Ile543=) | |
| 18 | g.57674874A>C | CA402560754 | ATP8B1 | c.1779T>G (p.Ile593Met) c.1644T>G c.1665T>G (p.Ile555Met) c.1059T>G (p.Ile353Met) c.1629T>G (p.Ile543Met) | |
| 18 | g.57674874A>G | CA504021197 | ATP8B1 | c.1779T>C (p.Ile593=) c.1644T>C c.1665T>C (p.Ile555=) c.1059T>C (p.Ile353=) c.1629T>C (p.Ile543=) | dbSNP |
| 18 | g.57674874A>T | CA504021198 | ATP8B1 | c.1779T>A (p.Ile593=) c.1644T>A c.1665T>A (p.Ile555=) c.1059T>A (p.Ile353=) c.1629T>A (p.Ile543=) | |
| 18 | g.57674875A>C | CA402560756 | ATP8B1 | c.1778T>G (p.Ile593Ser) c.1643T>G c.1664T>G (p.Ile555Ser) c.1058T>G (p.Ile353Ser) c.1628T>G (p.Ile543Ser) | |
| 18 | g.57674875A>G | CA402560757 | ATP8B1 | c.1778T>C (p.Ile593Thr) c.1643T>C c.1664T>C (p.Ile555Thr) c.1058T>C (p.Ile353Thr) c.1628T>C (p.Ile543Thr) | |
| 18 | g.57674875A>T | CA402560761 | ATP8B1 | c.1778T>A (p.Ile593Asn) c.1643T>A c.1664T>A (p.Ile555Asn) c.1058T>A (p.Ile353Asn) c.1628T>A (p.Ile543Asn) | |
| 18 | g.57674876T>A | CA402560763 | ATP8B1 | c.1777A>T (p.Ile593Phe) c.1642A>T c.1663A>T (p.Ile555Phe) c.1057A>T (p.Ile353Phe) c.1627A>T (p.Ile543Phe) | dbSNP |
| 18 | g.57674876T>C | CA402560764 | ATP8B1 | c.1777A>G (p.Ile593Val) c.1642A>G c.1663A>G (p.Ile555Val) c.1057A>G (p.Ile353Val) c.1627A>G (p.Ile543Val) | |
| 18 | g.57674876T>G | CA8974482 | ATP8B1 | c.1777A>C (p.Ile593Leu) c.1642A>C c.1663A>C (p.Ile555Leu) c.1057A>C (p.Ile353Leu) c.1627A>C (p.Ile543Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.57674876T= | CA2306103156 | ATP8B1 | c.1777A= (p.Ile593=) c.1642A= c.1663A= (p.Ile555=) c.1057A= (p.Ile353=) c.1627A= (p.Ile543=) | |
| 18 | g.57674877G>A | CA504021199 | ATP8B1 | c.1776C>T (p.Ala592=) c.1641C>T c.1662C>T (p.Ala554=) c.1056C>T (p.Ala352=) c.1626C>T (p.Ala542=) | |
| 18 | g.57674877G>C | CA504021200 | ATP8B1 | c.1776C>G (p.Ala592=) c.1641C>G c.1662C>G (p.Ala554=) c.1056C>G (p.Ala352=) c.1626C>G (p.Ala542=) | |
| 18 | g.57674877G>T | CA504021201 | ATP8B1 | c.1776C>A (p.Ala592=) c.1641C>A c.1662C>A (p.Ala554=) c.1056C>A (p.Ala352=) c.1626C>A (p.Ala542=) | |
| 18 | g.57674878G>A | CA402560775 | ATP8B1 | c.1775C>T (p.Ala592Val) c.1640C>T c.1661C>T (p.Ala554Val) c.1055C>T (p.Ala352Val) c.1625C>T (p.Ala542Val) | gnomAD v4 |
| 18 | g.57674878G>C | CA402560779 | ATP8B1 | c.1775C>G (p.Ala592Gly) c.1640C>G c.1661C>G (p.Ala554Gly) c.1055C>G (p.Ala352Gly) c.1625C>G (p.Ala542Gly) | |
| 18 | g.57674878G>T | CA402560777 | ATP8B1 | c.1775C>A (p.Ala592Asp) c.1640C>A c.1661C>A (p.Ala554Asp) c.1055C>A (p.Ala352Asp) c.1625C>A (p.Ala542Asp) | |
| 18 | g.57674879C>A | CA402560783 | ATP8B1 | c.1774G>T (p.Ala592Ser) c.1639G>T c.1660G>T (p.Ala554Ser) c.1054G>T (p.Ala352Ser) c.1624G>T (p.Ala542Ser) | |
| 18 | g.57674879C>G | CA402560786 | ATP8B1 | c.1774G>C (p.Ala592Pro) c.1639G>C c.1660G>C (p.Ala554Pro) c.1054G>C (p.Ala352Pro) c.1624G>C (p.Ala542Pro) | |
| 18 | g.57674879C>T | CA402560791 | ATP8B1 | c.1774G>A (p.Ala592Thr) c.1639G>A c.1660G>A (p.Ala554Thr) c.1054G>A (p.Ala352Thr) c.1624G>A (p.Ala542Thr) | |
| 18 | g.57674880A>C | CA504021204 | ATP8B1 | c.1773T>G (p.Leu591=) c.1638T>G c.1659T>G (p.Leu553=) c.1053T>G (p.Leu351=) c.1623T>G (p.Leu541=) | |
| 18 | g.57674880A>G | CA504021202 | ATP8B1 | c.1773T>C (p.Leu591=) c.1638T>C c.1659T>C (p.Leu553=) c.1053T>C (p.Leu351=) c.1623T>C (p.Leu541=) | |
| 18 | g.57674880A>T | CA504021203 | ATP8B1 | c.1773T>A (p.Leu591=) c.1638T>A c.1659T>A (p.Leu553=) c.1053T>A (p.Leu351=) c.1623T>A (p.Leu541=) | |
| 18 | g.57674881A>C | CA402560795 | ATP8B1 | c.1772T>G (p.Leu591Arg) c.1637T>G c.1658T>G (p.Leu553Arg) c.1052T>G (p.Leu351Arg) c.1622T>G (p.Leu541Arg) | |
| 18 | g.57674881A>G | CA402560798 | ATP8B1 | c.1772T>C (p.Leu591Pro) c.1637T>C c.1658T>C (p.Leu553Pro) c.1052T>C (p.Leu351Pro) c.1622T>C (p.Leu541Pro) | |
| 18 | g.57674881A>T | CA402560800 | ATP8B1 | c.1772T>A (p.Leu591His) c.1637T>A c.1658T>A (p.Leu553His) c.1052T>A (p.Leu351His) c.1622T>A (p.Leu541His) | |
| 18 | g.57674882G>A | CA402560805 | ATP8B1 | c.1771C>T (p.Leu591Phe) c.1636C>T c.1657C>T (p.Leu553Phe) c.1051C>T (p.Leu351Phe) c.1621C>T (p.Leu541Phe) | |
| 18 | g.57674882G>C | CA402560816 | ATP8B1 | c.1771C>G (p.Leu591Val) c.1636C>G c.1657C>G (p.Leu553Val) c.1051C>G (p.Leu351Val) c.1621C>G (p.Leu541Val) | gnomAD v4 |
| 18 | g.57674882G>T | CA402560819 | ATP8B1 | c.1771C>A (p.Leu591Ile) c.1636C>A c.1657C>A (p.Leu553Ile) c.1051C>A (p.Leu351Ile) c.1621C>A (p.Leu541Ile) | gnomAD v4 |
| 18 | g.57674883A>C | CA504021205 | ATP8B1 | c.1770T>G (p.Val590=) c.1635T>G c.1656T>G (p.Val552=) c.1050T>G (p.Val350=) c.1620T>G (p.Val540=) | |
| 18 | g.57674883A>G | CA504021206 | ATP8B1 | c.1770T>C (p.Val590=) c.1635T>C c.1656T>C (p.Val552=) c.1050T>C (p.Val350=) c.1620T>C (p.Val540=) | dbSNP |
| 18 | g.57674883A>T | CA504021207 | ATP8B1 | c.1770T>A (p.Val590=) c.1635T>A c.1656T>A (p.Val552=) c.1050T>A (p.Val350=) c.1620T>A (p.Val540=) | |
| 18 | g.57674884A>C | CA402560823 | ATP8B1 | c.1769T>G (p.Val590Gly) c.1634T>G c.1655T>G (p.Val552Gly) c.1049T>G (p.Val350Gly) c.1619T>G (p.Val540Gly) | COSMIC |
| 18 | g.57674884A>G | CA402560827 | ATP8B1 | c.1769T>C (p.Val590Ala) c.1634T>C c.1655T>C (p.Val552Ala) c.1049T>C (p.Val350Ala) c.1619T>C (p.Val540Ala) | |
| 18 | g.57674884A>T | CA402560831 | ATP8B1 | c.1769T>A (p.Val590Asp) c.1634T>A c.1655T>A (p.Val552Asp) c.1049T>A (p.Val350Asp) c.1619T>A (p.Val540Asp) | |
| 18 | g.57674885C>A | CA402560843 | ATP8B1 | c.1768G>T (p.Val590Phe) c.1633G>T c.1654G>T (p.Val552Phe) c.1048G>T (p.Val350Phe) c.1618G>T (p.Val540Phe) | |
| 18 | g.57674885C= | CA2306103157 | ATP8B1 | c.1768G= (p.Val590=) c.1633G= c.1654G= (p.Val552=) c.1048G= (p.Val350=) c.1618G= (p.Val540=) | |
| 18 | g.57674885C>G | CA8974483 | ATP8B1 | c.1768G>C (p.Val590Leu) c.1633G>C c.1654G>C (p.Val552Leu) c.1048G>C (p.Val350Leu) c.1618G>C (p.Val540Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.57674885C>T | CA402560836 | ATP8B1 | c.1768G>A (p.Val590Ile) c.1633G>A c.1654G>A (p.Val552Ile) c.1048G>A (p.Val350Ile) c.1618G>A (p.Val540Ile) | |
| 18 | g.57674886A= | CA2306103158 | ATP8B1 | c.1767T= (p.Asn589=) c.1632T= c.1653T= (p.Asn551=) c.1047T= (p.Asn349=) c.1617T= (p.Asn539=) | |
| 18 | g.57674886A>C | CA402560848 | ATP8B1 | c.1767T>G (p.Asn589Lys) c.1632T>G c.1653T>G (p.Asn551Lys) c.1047T>G (p.Asn349Lys) c.1617T>G (p.Asn539Lys) | |
| 18 | g.57674886A>G | CA504021208 | ATP8B1 | c.1767T>C (p.Asn589=) c.1632T>C c.1653T>C (p.Asn551=) c.1047T>C (p.Asn349=) c.1617T>C (p.Asn539=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57674886A>T | CA402560847 | ATP8B1 | c.1767T>A (p.Asn589Lys) c.1632T>A c.1653T>A (p.Asn551Lys) c.1047T>A (p.Asn349Lys) c.1617T>A (p.Asn539Lys) | |
| 18 | g.57674887T>A | CA402560849 | ATP8B1 | c.1766A>T (p.Asn589Ile) c.1631A>T c.1652A>T (p.Asn551Ile) c.1046A>T (p.Asn349Ile) c.1616A>T (p.Asn539Ile) | |
| 18 | g.57674887T>C | CA402560853 | ATP8B1 | c.1766A>G (p.Asn589Ser) c.1631A>G c.1652A>G (p.Asn551Ser) c.1046A>G (p.Asn349Ser) c.1616A>G (p.Asn539Ser) | gnomAD v4 |
| 18 | g.57674887T>G | CA402560859 | ATP8B1 | c.1766A>C (p.Asn589Thr) c.1631A>C c.1652A>C (p.Asn551Thr) c.1046A>C (p.Asn349Thr) c.1616A>C (p.Asn539Thr) | |
| 18 | g.57674888T>A | CA402560863 | ATP8B1 | c.1765A>T (p.Asn589Tyr) c.1630A>T c.1651A>T (p.Asn551Tyr) c.1045A>T (p.Asn349Tyr) c.1615A>T (p.Asn539Tyr) | |
| 18 | g.57674888T>C | CA402560866 | ATP8B1 | c.1765A>G (p.Asn589Asp) c.1630A>G c.1651A>G (p.Asn551Asp) c.1045A>G (p.Asn349Asp) c.1615A>G (p.Asn539Asp) | gnomAD v4 |
| 18 | g.57674888T>G | CA402560868 | ATP8B1 | c.1765A>C (p.Asn589His) c.1630A>C c.1651A>C (p.Asn551His) c.1045A>C (p.Asn349His) c.1615A>C (p.Asn539His) | |
| 18 | g.57674889G>A | CA504021209 | ATP8B1 | c.1764C>T (p.Tyr588=) c.1629C>T c.1650C>T (p.Tyr550=) c.1044C>T (p.Tyr348=) c.1614C>T (p.Tyr538=) | ClinVar gnomAD v4 |
| 18 | g.57674889G>C | CA402560871 | ATP8B1 | c.1764C>G (p.Tyr588Ter) c.1629C>G c.1650C>G (p.Tyr550Ter) c.1044C>G (p.Tyr348Ter) c.1614C>G (p.Tyr538Ter) | gnomAD v4 |
| 18 | g.57674889G>T | CA402560870 | ATP8B1 | c.1764C>A (p.Tyr588Ter) c.1629C>A c.1650C>A (p.Tyr550Ter) c.1044C>A (p.Tyr348Ter) c.1614C>A (p.Tyr538Ter) | gnomAD v4 |
| 18 | g.57674890T>A | CA402560872 | ATP8B1 | c.1763A>T (p.Tyr588Phe) c.1628A>T c.1649A>T (p.Tyr550Phe) c.1043A>T (p.Tyr348Phe) c.1613A>T (p.Tyr538Phe) | |
| 18 | g.57674890T>C | CA402560874 | ATP8B1 | c.1763A>G (p.Tyr588Cys) c.1628A>G c.1649A>G (p.Tyr550Cys) c.1043A>G (p.Tyr348Cys) c.1613A>G (p.Tyr538Cys) | |
| 18 | g.57674890T>G | CA402560877 | ATP8B1 | c.1763A>C (p.Tyr588Ser) c.1628A>C c.1649A>C (p.Tyr550Ser) c.1043A>C (p.Tyr348Ser) c.1613A>C (p.Tyr538Ser) | |
| 18 | g.57674891A>C | CA402560881 | ATP8B1 | c.1762T>G (p.Tyr588Asp) c.1627T>G c.1648T>G (p.Tyr550Asp) c.1042T>G (p.Tyr348Asp) c.1612T>G (p.Tyr538Asp) | |
| 18 | g.57674891A>G | CA402560885 | ATP8B1 | c.1762T>C (p.Tyr588His) c.1627T>C c.1648T>C (p.Tyr550His) c.1042T>C (p.Tyr348His) c.1612T>C (p.Tyr538His) | |
| 18 | g.57674891A>T | CA402560887 | ATP8B1 | c.1762T>A (p.Tyr588Asn) c.1627T>A c.1648T>A (p.Tyr550Asn) c.1042T>A (p.Tyr348Asn) c.1612T>A (p.Tyr538Asn) | |
| 18 | g.57674892A>C | CA504021210 | ATP8B1 | c.1761T>G (p.Thr587=) c.1626T>G c.1647T>G (p.Thr549=) c.1041T>G (p.Thr347=) c.1611T>G (p.Thr537=) | |
| 18 | g.57674892A>G | CA504021212 | ATP8B1 | c.1761T>C (p.Thr587=) c.1626T>C c.1647T>C (p.Thr549=) c.1041T>C (p.Thr347=) c.1611T>C (p.Thr537=) | |
| 18 | g.57674892A>T | CA504021211 | ATP8B1 | c.1761T>A (p.Thr587=) c.1626T>A c.1647T>A (p.Thr549=) c.1041T>A (p.Thr347=) c.1611T>A (p.Thr537=) | |
| 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=) | |
| 18 | g.57674907C>T | CA504021223 | ATP8B1 | c.1746G>A (p.Leu582=) c.1611G>A c.1632G>A (p.Leu544=) c.1026G>A (p.Leu342=) c.1596G>A (p.Leu532=) | |
| 18 | g.57674908del | CA2641954486 | ATP8B1 | c.1745del (p.Leu582ArgfsTer26) c.1610del c.1631del (p.Leu544ArgfsTer26) c.1025del (p.Leu342ArgfsTer26) c.1595del (p.Leu532ArgfsTer26) | gnomAD v4 |
| 18 | g.57674908A>C | CA402561009 | ATP8B1 | c.1745T>G (p.Leu582Arg) c.1610T>G c.1631T>G (p.Leu544Arg) c.1025T>G (p.Leu342Arg) c.1595T>G (p.Leu532Arg) | |
| 18 | g.57674908A>G | CA402561011 | ATP8B1 | c.1745T>C (p.Leu582Pro) c.1610T>C c.1631T>C (p.Leu544Pro) c.1025T>C (p.Leu342Pro) c.1595T>C (p.Leu532Pro) | |
| 18 | g.57674908A>T | CA402561012 | ATP8B1 | c.1745T>A (p.Leu582Gln) c.1610T>A c.1631T>A (p.Leu544Gln) c.1025T>A (p.Leu342Gln) c.1595T>A (p.Leu532Gln) | |
| 18 | g.57674909G>A | CA504021225 | ATP8B1 | c.1744C>T (p.Leu582=) c.1609C>T c.1630C>T (p.Leu544=) c.1024C>T (p.Leu342=) c.1594C>T (p.Leu532=) | |
| 18 | g.57674909G>C | CA402561015 | ATP8B1 | c.1744C>G (p.Leu582Val) c.1609C>G c.1630C>G (p.Leu544Val) c.1024C>G (p.Leu342Val) c.1594C>G (p.Leu532Val) | |
| 18 | g.57674909G>T | CA402561016 | ATP8B1 | c.1744C>A (p.Leu582Met) c.1609C>A c.1630C>A (p.Leu544Met) c.1024C>A (p.Leu342Met) c.1594C>A (p.Leu532Met) | gnomAD v4 |
| 18 | g.57674910T>A | CA402561017 | ATP8B1 | c.1743A>T (p.Glu581Asp) c.1608A>T c.1629A>T (p.Glu543Asp) c.1023A>T (p.Glu341Asp) c.1593A>T (p.Glu531Asp) | |
| 18 | g.57674910T>C | CA8974489 | ATP8B1 | c.1743A>G (p.Glu581=) c.1608A>G c.1629A>G (p.Glu543=) c.1023A>G (p.Glu341=) c.1593A>G (p.Glu531=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.57674910T>G | CA402561019 | ATP8B1 | c.1743A>C (p.Glu581Asp) c.1608A>C c.1629A>C (p.Glu543Asp) c.1023A>C (p.Glu341Asp) c.1593A>C (p.Glu531Asp) | gnomAD v4 |
| 18 | g.57674910T= | CA2306103165 | ATP8B1 | c.1743A= (p.Glu581=) c.1608A= c.1629A= (p.Glu543=) c.1023A= (p.Glu341=) c.1593A= (p.Glu531=) | |
| 18 | g.57674911T>A | CA402561021 | ATP8B1 | c.1742A>T (p.Glu581Val) c.1607A>T c.1628A>T (p.Glu543Val) c.1022A>T (p.Glu341Val) c.1592A>T (p.Glu531Val) | |
| 18 | g.57674911T>C | CA402561049 | ATP8B1 | c.1742A>G (p.Glu581Gly) c.1607A>G c.1628A>G (p.Glu543Gly) c.1022A>G (p.Glu341Gly) c.1592A>G (p.Glu531Gly) | |
| 18 | g.57674911T>G | CA402561052 | ATP8B1 | c.1742A>C (p.Glu581Ala) c.1607A>C c.1628A>C (p.Glu543Ala) c.1022A>C (p.Glu341Ala) c.1592A>C (p.Glu531Ala) | |
| 18 | g.57674912C>A | CA402561061 | ATP8B1 | c.1741G>T (p.Glu581Ter) c.1606G>T c.1627G>T (p.Glu543Ter) c.1021G>T (p.Glu341Ter) c.1591G>T (p.Glu531Ter) | |
| 18 | g.57674912C>G | CA402561071 | ATP8B1 | c.1741G>C (p.Glu581Gln) c.1606G>C c.1627G>C (p.Glu543Gln) c.1021G>C (p.Glu341Gln) c.1591G>C (p.Glu531Gln) | |
| 18 | g.57674912C>T | CA402561059 | ATP8B1 | c.1741G>A (p.Glu581Lys) c.1606G>A c.1627G>A (p.Glu543Lys) c.1021G>A (p.Glu341Lys) c.1591G>A (p.Glu531Lys) | |
| 18 | g.57674913A>C | CA402561075 | ATP8B1 | c.1740T>G (p.Ser580Arg) c.1605T>G c.1626T>G (p.Ser542Arg) c.1020T>G (p.Ser340Arg) c.1590T>G (p.Ser530Arg) | |
| 18 | g.57674913A>G | CA504021226 | ATP8B1 | c.1740T>C (p.Ser580=) c.1605T>C c.1626T>C (p.Ser542=) c.1020T>C (p.Ser340=) c.1590T>C (p.Ser530=) | |
| 18 | g.57674913A>T | CA402561078 | ATP8B1 | c.1740T>A (p.Ser580Arg) c.1605T>A c.1626T>A (p.Ser542Arg) c.1020T>A (p.Ser340Arg) c.1590T>A (p.Ser530Arg) | |
| 18 | g.57674914C>A | CA402561082 | ATP8B1 | c.1739G>T (p.Ser580Ile) c.1604G>T c.1625G>T (p.Ser542Ile) c.1019G>T (p.Ser340Ile) c.1589G>T (p.Ser530Ile) | |
| 18 | g.57674914C= | CA2306103166 | ATP8B1 | c.1739G= (p.Ser580=) c.1604G= c.1625G= (p.Ser542=) c.1019G= (p.Ser340=) c.1589G= (p.Ser530=) | |
| 18 | g.57674914C>G | CA402561084 | ATP8B1 | c.1739G>C (p.Ser580Thr) c.1604G>C c.1625G>C (p.Ser542Thr) c.1019G>C (p.Ser340Thr) c.1589G>C (p.Ser530Thr) | gnomAD v4 |
| 18 | g.57674914C>T | CA8974490 | ATP8B1 | c.1739G>A (p.Ser580Asn) c.1604G>A c.1625G>A (p.Ser542Asn) c.1019G>A (p.Ser340Asn) c.1589G>A (p.Ser530Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57674915T>A | CA402561086 | ATP8B1 | c.1738A>T (p.Ser580Cys) c.1603A>T c.1624A>T (p.Ser542Cys) c.1018A>T (p.Ser340Cys) c.1588A>T (p.Ser530Cys) | |
| 18 | g.57674915T>C | CA402561088 | ATP8B1 | c.1738A>G (p.Ser580Gly) c.1603A>G c.1624A>G (p.Ser542Gly) c.1018A>G (p.Ser340Gly) c.1588A>G (p.Ser530Gly) | |
| 18 | g.57674915T>G | CA402561091 | ATP8B1 | c.1738A>C (p.Ser580Arg) c.1603A>C c.1624A>C (p.Ser542Arg) c.1018A>C (p.Ser340Arg) c.1588A>C (p.Ser530Arg) | |
| 18 | g.57674916G>A | CA504021228 | ATP8B1 | c.1737C>T (p.Ile579=) c.1602C>T c.1623C>T (p.Ile541=) c.1017C>T (p.Ile339=) c.1587C>T (p.Ile529=) | |
| 18 | g.57674916G>C | CA402561094 | ATP8B1 | c.1737C>G (p.Ile579Met) c.1602C>G c.1623C>G (p.Ile541Met) c.1017C>G (p.Ile339Met) c.1587C>G (p.Ile529Met) | |
| 18 | g.57674916G>T | CA504021229 | ATP8B1 | c.1737C>A (p.Ile579=) c.1602C>A c.1623C>A (p.Ile541=) c.1017C>A (p.Ile339=) c.1587C>A (p.Ile529=) | |
| 18 | g.57674917A>C | CA402561101 | ATP8B1 | c.1736T>G (p.Ile579Ser) c.1601T>G c.1622T>G (p.Ile541Ser) c.1016T>G (p.Ile339Ser) c.1586T>G (p.Ile529Ser) | |
| 18 | g.57674917A>G | CA402561103 | ATP8B1 | c.1736T>C (p.Ile579Thr) c.1601T>C c.1622T>C (p.Ile541Thr) c.1016T>C (p.Ile339Thr) c.1586T>C (p.Ile529Thr) | |
| 18 | g.57674917A>T | CA402561112 | ATP8B1 | c.1736T>A (p.Ile579Asn) c.1601T>A c.1622T>A (p.Ile541Asn) c.1016T>A (p.Ile339Asn) c.1586T>A (p.Ile529Asn) | |
| 18 | g.57674918T>A | CA402561120 | ATP8B1 | c.1735A>T (p.Ile579Phe) c.1600A>T c.1621A>T (p.Ile541Phe) c.1015A>T (p.Ile339Phe) c.1585A>T (p.Ile529Phe) | |
| 18 | g.57674918T>C | CA402561121 | ATP8B1 | c.1735A>G (p.Ile579Val) c.1600A>G c.1621A>G (p.Ile541Val) c.1015A>G (p.Ile339Val) c.1585A>G (p.Ile529Val) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.57674918T>G | CA402561126 | ATP8B1 | c.1735A>C (p.Ile579Leu) c.1600A>C c.1621A>C (p.Ile541Leu) c.1015A>C (p.Ile339Leu) c.1585A>C (p.Ile529Leu) | |
| 18 | g.57674918T= | CA2306103167 | ATP8B1 | c.1735A= (p.Ile579=) c.1600A= c.1621A= (p.Ile541=) c.1015A= (p.Ile339=) c.1585A= (p.Ile529=) | |
| 18 | g.57674919G>A | CA504021231 | ATP8B1 | c.1734C>T (p.Thr578=) c.1599C>T c.1620C>T (p.Thr540=) c.1014C>T (p.Thr338=) c.1584C>T (p.Thr528=) | ClinVar dbSNP |
| 18 | g.57674919G>C | CA504021233 | ATP8B1 | c.1734C>G (p.Thr578=) c.1599C>G c.1620C>G (p.Thr540=) c.1014C>G (p.Thr338=) c.1584C>G (p.Thr528=) | |
| 18 | g.57674919G= | CA2306103168 | ATP8B1 | c.1734C= (p.Thr578=) c.1599C= c.1620C= (p.Thr540=) c.1014C= (p.Thr338=) c.1584C= (p.Thr528=) | |
| 18 | g.57674919G>T | CA504021234 | ATP8B1 | c.1734C>A (p.Thr578=) c.1599C>A c.1620C>A (p.Thr540=) c.1014C>A (p.Thr338=) c.1584C>A (p.Thr528=) | |
| 18 | g.57674920G>A | CA402561139 | ATP8B1 | c.1733C>T (p.Thr578Ile) c.1598C>T c.1619C>T (p.Thr540Ile) c.1013C>T (p.Thr338Ile) c.1583C>T (p.Thr528Ile) | |
| 18 | g.57674920G>C | CA402561136 | ATP8B1 | c.1733C>G (p.Thr578Ser) c.1598C>G c.1619C>G (p.Thr540Ser) c.1013C>G (p.Thr338Ser) c.1583C>G (p.Thr528Ser) | |
| 18 | g.57674920G>T | CA402561133 | ATP8B1 | c.1733C>A (p.Thr578Asn) c.1598C>A c.1619C>A (p.Thr540Asn) c.1013C>A (p.Thr338Asn) c.1583C>A (p.Thr528Asn) | |
| 18 | g.57674921T>A | CA402561140 | ATP8B1 | c.1732A>T (p.Thr578Ser) c.1597A>T c.1618A>T (p.Thr540Ser) c.1012A>T (p.Thr338Ser) c.1582A>T (p.Thr528Ser) | |
| 18 | g.57674921T>C | CA402561141 | ATP8B1 | c.1732A>G (p.Thr578Ala) c.1597A>G c.1618A>G (p.Thr540Ala) c.1012A>G (p.Thr338Ala) c.1582A>G (p.Thr528Ala) | |
| 18 | g.57674921T>G | CA402561142 | ATP8B1 | c.1732A>C (p.Thr578Pro) c.1597A>C c.1618A>C (p.Thr540Pro) c.1012A>C (p.Thr338Pro) c.1582A>C (p.Thr528Pro) | |
| 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) |