| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |