Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
18 | g.57675023C>A | CA402562068 | ATP8B1 | c.1631-1G>T (n.1631-1G>T) c.1495G>T c.1517-1G>T (n.1517-1G>T) c.911-1G>T (n.911-1G>T) c.1481-1G>T (n.1481-1G>T) | |
18 | g.57675023C= | CA2306103207 | ATP8B1 | c.1631-1G= (n.1631-1G=) c.1495G= c.1517-1G= (n.1517-1G=) c.911-1G= (n.911-1G=) c.1481-1G= (n.1481-1G=) | |
18 | g.57675023C>G | CA402562072 | ATP8B1 | c.1631-1G>C (n.1631-1G>C) c.1495G>C c.1517-1G>C (n.1517-1G>C) c.911-1G>C (n.911-1G>C) c.1481-1G>C (n.1481-1G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.57675023C>T | CA402562077 | ATP8B1 | c.1631-1G>A (n.1631-1G>A) c.1495G>A c.1517-1G>A (n.1517-1G>A) c.911-1G>A (n.911-1G>A) c.1481-1G>A (n.1481-1G>A) | |
18 | g.57675024T>A | CA402562080 | ATP8B1 | c.1631-2A>T (n.1631-2A>T) c.1494A>T c.1517-2A>T (n.1517-2A>T) c.911-2A>T (n.911-2A>T) c.1481-2A>T (n.1481-2A>T) | |
18 | g.57675024T>C | CA402562084 | ATP8B1 | c.1631-2A>G (n.1631-2A>G) c.1494A>G c.1517-2A>G (n.1517-2A>G) c.911-2A>G (n.911-2A>G) c.1481-2A>G (n.1481-2A>G) | |
18 | g.57675024T>G | CA402562087 | ATP8B1 | c.1631-2A>C (n.1631-2A>C) c.1494A>C c.1517-2A>C (n.1517-2A>C) c.911-2A>C (n.911-2A>C) c.1481-2A>C (n.1481-2A>C) | |
18 | g.57675025A>C | CA2812634497 | ATP8B1 | c.1631-3T>G (n.1631-3T>G) c.1493T>G c.1517-3T>G (n.1517-3T>G) c.911-3T>G (n.911-3T>G) c.1481-3T>G (n.1481-3T>G) | |
18 | g.57675026A= | CA2306103208 | ATP8B1 | c.1631-4T= (n.1631-4T=) c.1492T= c.1517-4T= (n.1517-4T=) c.911-4T= (n.911-4T=) c.1481-4T= (n.1481-4T=) | |
18 | g.57675026A>G | CA780829174 | ATP8B1 | c.1631-4T>C (n.1631-4T>C) c.1492T>C c.1517-4T>C (n.1517-4T>C) c.911-4T>C (n.911-4T>C) c.1481-4T>C (n.1481-4T>C) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.57675027C>A | CA2306103210 | ATP8B1 | c.1631-5G>T (n.1631-5G>T) c.1491G>T c.1517-5G>T (n.1517-5G>T) c.911-5G>T (n.911-5G>T) c.1481-5G>T (n.1481-5G>T) | dbSNP gnomAD v4 |
18 | g.57675027C= | CA2306103209 | ATP8B1 | c.1631-5G= (n.1631-5G=) c.1491G= c.1517-5G= (n.1517-5G=) c.911-5G= (n.911-5G=) c.1481-5G= (n.1481-5G=) | |
18 | g.57675027C>T | CA2641954493 | ATP8B1 | c.1631-5G>A (n.1631-5G>A) c.1491G>A c.1517-5G>A (n.1517-5G>A) c.911-5G>A (n.911-5G>A) c.1481-5G>A (n.1481-5G>A) | gnomAD v4 |
18 | g.57675029A>G | CA2641954494 | ATP8B1 | c.1631-7T>C (n.1631-7T>C) c.1489T>C c.1517-7T>C (n.1517-7T>C) c.911-7T>C (n.911-7T>C) c.1481-7T>C (n.1481-7T>C) | ClinVar gnomAD v4 |
18 | g.57675032A= | CA2306103211 | ATP8B1 | c.1631-10T= (n.1631-10T=) c.1486T= c.1517-10T= (n.1517-10T=) c.911-10T= (n.911-10T=) c.1481-10T= (n.1481-10T=) | |
18 | g.57675032A>G | CA2641954495 | ATP8B1 | c.1631-10T>C (n.1631-10T>C) c.1486T>C c.1517-10T>C (n.1517-10T>C) c.911-10T>C (n.911-10T>C) c.1481-10T>C (n.1481-10T>C) | gnomAD v4 |
18 | g.57675032A>T | CA630396025 | ATP8B1 | c.1631-10T>A (n.1631-10T>A) c.1486T>A c.1517-10T>A (n.1517-10T>A) c.911-10T>A (n.911-10T>A) c.1481-10T>A (n.1481-10T>A) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.57675033A>C | CA2735085070 | ATP8B1 | c.1631-11T>G (n.1631-11T>G) c.1485T>G c.1517-11T>G (n.1517-11T>G) c.911-11T>G (n.911-11T>G) c.1481-11T>G (n.1481-11T>G) | dbSNP |
18 | g.57675035C>A | CA2641954496 | ATP8B1 | c.1631-13G>T (n.1631-13G>T) c.1483G>T c.1517-13G>T (n.1517-13G>T) c.911-13G>T (n.911-13G>T) c.1481-13G>T (n.1481-13G>T) | gnomAD v4 |
18 | g.57675035C= | CA2306103212 | ATP8B1 | c.1631-13G= (n.1631-13G=) c.1483G= c.1517-13G= (n.1517-13G=) c.911-13G= (n.911-13G=) c.1481-13G= (n.1481-13G=) | |
18 | g.57675035C>T | CA8974507 | ATP8B1 | c.1631-13G>A (n.1631-13G>A) c.1483G>A c.1517-13G>A (n.1517-13G>A) c.911-13G>A (n.911-13G>A) c.1481-13G>A (n.1481-13G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.57675036G>A | CA8974508 | ATP8B1 | c.1631-14C>T (n.1631-14C>T) c.1482C>T c.1517-14C>T (n.1517-14C>T) c.911-14C>T (n.911-14C>T) c.1481-14C>T (n.1481-14C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.57675036G>C | CA2576663513 | ATP8B1 | c.1631-14C>G (n.1631-14C>G) c.1482C>G c.1517-14C>G (n.1517-14C>G) c.911-14C>G (n.911-14C>G) c.1481-14C>G (n.1481-14C>G) | |
18 | g.57675036G= | CA2306103213 | ATP8B1 | c.1631-14C= (n.1631-14C=) c.1482C= c.1517-14C= (n.1517-14C=) c.911-14C= (n.911-14C=) c.1481-14C= (n.1481-14C=) | |
18 | g.57675036G>T | CA2306103214 | ATP8B1 | c.1631-14C>A (n.1631-14C>A) c.1482C>A c.1517-14C>A (n.1517-14C>A) c.911-14C>A (n.911-14C>A) c.1481-14C>A (n.1481-14C>A) | dbSNP gnomAD v4 |
18 | g.57675038G>A | CA300889216 | ATP8B1 | c.1631-16C>T (n.1631-16C>T) c.1480C>T c.1517-16C>T (n.1517-16C>T) c.911-16C>T (n.911-16C>T) c.1481-16C>T (n.1481-16C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.57675038G= | CA2306103215 | ATP8B1 | c.1631-16C= (n.1631-16C=) c.1480C= c.1517-16C= (n.1517-16C=) c.911-16C= (n.911-16C=) c.1481-16C= (n.1481-16C=) | |
18 | g.57675039A= | CA2306103216 | ATP8B1 | c.1631-17T= (n.1631-17T=) c.1479T= c.1517-17T= (n.1517-17T=) c.911-17T= (n.911-17T=) c.1481-17T= (n.1481-17T=) | |
18 | g.57675039A>G | CA2306103217 | ATP8B1 | c.1631-17T>C (n.1631-17T>C) c.1479T>C c.1517-17T>C (n.1517-17T>C) c.911-17T>C (n.911-17T>C) c.1481-17T>C (n.1481-17T>C) | dbSNP gnomAD v4 |
18 | g.57675041A>C | CA2641954497 | ATP8B1 | c.1631-19T>G (n.1631-19T>G) c.1477T>G c.1517-19T>G (n.1517-19T>G) c.911-19T>G (n.911-19T>G) c.1481-19T>G (n.1481-19T>G) | gnomAD v4 |
18 | g.57675041A>G | CA2576663514 | ATP8B1 | c.1631-19T>C (n.1631-19T>C) c.1477T>C c.1517-19T>C (n.1517-19T>C) c.911-19T>C (n.911-19T>C) c.1481-19T>C (n.1481-19T>C) | |
18 | g.57675043A= | CA2306103218 | ATP8B1 | c.1631-21T= (n.1631-21T=) c.1475T= c.1517-21T= (n.1517-21T=) c.911-21T= (n.911-21T=) c.1481-21T= (n.1481-21T=) | |
18 | g.57675043A>T | CA990694757 | ATP8B1 | c.1631-21T>A (n.1631-21T>A) c.1475T>A c.1517-21T>A (n.1517-21T>A) c.911-21T>A (n.911-21T>A) c.1481-21T>A (n.1481-21T>A) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.57675044T>C | CA2576663515 | ATP8B1 | c.1631-22A>G (n.1631-22A>G) c.1474A>G c.1517-22A>G (n.1517-22A>G) c.911-22A>G (n.911-22A>G) c.1481-22A>G (n.1481-22A>G) | gnomAD v4 |
18 | g.57675045C>A | CA2641954498 | ATP8B1 | c.1631-23G>T (n.1631-23G>T) c.1473G>T c.1517-23G>T (n.1517-23G>T) c.911-23G>T (n.911-23G>T) c.1481-23G>T (n.1481-23G>T) | gnomAD v4 |
18 | g.57675045C= | CA2306103219 | ATP8B1 | c.1631-23G= (n.1631-23G=) c.1473G= c.1517-23G= (n.1517-23G=) c.911-23G= (n.911-23G=) c.1481-23G= (n.1481-23G=) | |
18 | g.57675045C>T | CA8974509 | ATP8B1 | c.1631-23G>A (n.1631-23G>A) c.1473G>A c.1517-23G>A (n.1517-23G>A) c.911-23G>A (n.911-23G>A) c.1481-23G>A (n.1481-23G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.57675046C>T | CA2641954499 | ATP8B1 | c.1631-24G>A (n.1631-24G>A) c.1472G>A c.1517-24G>A (n.1517-24G>A) c.911-24G>A (n.911-24G>A) c.1481-24G>A (n.1481-24G>A) | gnomAD v4 |
18 | g.57675047C>A | CA2576663516 | ATP8B1 | c.1631-25G>T (n.1631-25G>T) c.1471G>T c.1517-25G>T (n.1517-25G>T) c.911-25G>T (n.911-25G>T) c.1481-25G>T (n.1481-25G>T) | |
18 | g.57675047_57675048delinsCA | CA2306103220 | ATP8B1 | c.1631-26_1631-25delinsTG (n.1631-26_1631-25delinsTG) c.1470_1471delinsTG c.1517-26_1517-25delinsTG (n.1517-26_1517-25delinsTG) c.911-26_911-25delinsTG (n.911-26_911-25delinsTG) c.1481-26_1481-25delinsTG (n.1481-26_1481-25delinsTG) | |
18 | g.57675048del | CA990694760 | ATP8B1 | c.1631-26del (n.1631-26del) c.1470del c.1517-26del (n.1517-26del) c.911-26del (n.911-26del) c.1481-26del (n.1481-26del) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.57675049G>A | CA2641954500 | ATP8B1 | c.1631-27C>T (n.1631-27C>T) c.1469C>T c.1517-27C>T (n.1517-27C>T) c.911-27C>T (n.911-27C>T) c.1481-27C>T (n.1481-27C>T) | gnomAD v4 |
18 | g.57675049G>T | CA2641954501 | ATP8B1 | c.1631-27C>A (n.1631-27C>A) c.1469C>A c.1517-27C>A (n.1517-27C>A) c.911-27C>A (n.911-27C>A) c.1481-27C>A (n.1481-27C>A) | gnomAD v4 |
18 | g.57675051A>G | CA2641954502 | ATP8B1 | c.1631-29T>C (n.1631-29T>C) c.1467T>C c.1517-29T>C (n.1517-29T>C) c.911-29T>C (n.911-29T>C) c.1481-29T>C (n.1481-29T>C) | gnomAD v4 |
18 | g.57675052A= | CA2306103221 | ATP8B1 | c.1631-30T= (n.1631-30T=) c.1466T= c.1517-30T= (n.1517-30T=) c.911-30T= (n.911-30T=) c.1481-30T= (n.1481-30T=) | |
18 | g.57675052A>G | CA8974510 | ATP8B1 | c.1631-30T>C (n.1631-30T>C) c.1466T>C c.1517-30T>C (n.1517-30T>C) c.911-30T>C (n.911-30T>C) c.1481-30T>C (n.1481-30T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.57675053A= | CA2306103222 | ATP8B1 | c.1631-31T= (n.1631-31T=) c.1465T= c.1517-31T= (n.1517-31T=) c.911-31T= (n.911-31T=) c.1481-31T= (n.1481-31T=) | |
18 | g.57675053A>G | CA630396026 | ATP8B1 | c.1631-31T>C (n.1631-31T>C) c.1465T>C c.1517-31T>C (n.1517-31T>C) c.911-31T>C (n.911-31T>C) c.1481-31T>C (n.1481-31T>C) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.57675054G>C | CA2641954503 | ATP8B1 | c.1631-32C>G (n.1631-32C>G) c.1464C>G c.1517-32C>G (n.1517-32C>G) c.911-32C>G (n.911-32C>G) c.1481-32C>G (n.1481-32C>G) | gnomAD v4 |
18 | g.57675055C>A | CA2641954504 | ATP8B1 | c.1631-33G>T (n.1631-33G>T) c.1464-1G>T c.1517-33G>T (n.1517-33G>T) c.911-33G>T (n.911-33G>T) c.1481-33G>T (n.1481-33G>T) | gnomAD v4 |
18 | g.57675055C>T | CA2641954505 | ATP8B1 | c.1631-33G>A (n.1631-33G>A) c.1464-1G>A c.1517-33G>A (n.1517-33G>A) c.911-33G>A (n.911-33G>A) c.1481-33G>A (n.1481-33G>A) | gnomAD v4 |
18 | g.57675056T>C | CA2641954506 | ATP8B1 | c.1631-34A>G (n.1631-34A>G) c.1464-2A>G c.1517-34A>G (n.1517-34A>G) c.911-34A>G (n.911-34A>G) c.1481-34A>G (n.1481-34A>G) | gnomAD v4 |
18 | g.57675057G>A | CA8974511 | ATP8B1 | c.1631-35C>T (n.1631-35C>T) c.1464-3C>T c.1517-35C>T (n.1517-35C>T) c.911-35C>T (n.911-35C>T) c.1481-35C>T (n.1481-35C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.57675057G= | CA2306103223 | ATP8B1 | c.1631-35C= (n.1631-35C=) c.1464-3C= c.1517-35C= (n.1517-35C=) c.911-35C= (n.911-35C=) c.1481-35C= (n.1481-35C=) | |
18 | g.57675059A= | CA2306103224 | ATP8B1 | c.1631-37T= (n.1631-37T=) c.1464-5T= c.1517-37T= (n.1517-37T=) c.911-37T= (n.911-37T=) c.1481-37T= (n.1481-37T=) | |
18 | g.57675059A>G | CA8974512 | ATP8B1 | c.1631-37T>C (n.1631-37T>C) c.1464-5T>C c.1517-37T>C (n.1517-37T>C) c.911-37T>C (n.911-37T>C) c.1481-37T>C (n.1481-37T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.57675059A>T | CA2576663517 | ATP8B1 | c.1631-37T>A (n.1631-37T>A) c.1464-5T>A c.1517-37T>A (n.1517-37T>A) c.911-37T>A (n.911-37T>A) c.1481-37T>A (n.1481-37T>A) | |
18 | g.57675061A= | CA2306103225 | ATP8B1 | c.1631-39T= (n.1631-39T=) c.1464-7T= c.1517-39T= (n.1517-39T=) c.911-39T= (n.911-39T=) c.1481-39T= (n.1481-39T=) | |
18 | g.57675061A>C | CA2306103226 | ATP8B1 | c.1631-39T>G (n.1631-39T>G) c.1464-7T>G c.1517-39T>G (n.1517-39T>G) c.911-39T>G (n.911-39T>G) c.1481-39T>G (n.1481-39T>G) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.57675063A= | CA2306103227 | ATP8B1 | c.1631-41T= (n.1631-41T=) c.1464-9T= c.1517-41T= (n.1517-41T=) c.911-41T= (n.911-41T=) c.1481-41T= (n.1481-41T=) | |
18 | g.57675063A>G | CA300889245 | ATP8B1 | c.1631-41T>C (n.1631-41T>C) c.1464-9T>C c.1517-41T>C (n.1517-41T>C) c.911-41T>C (n.911-41T>C) c.1481-41T>C (n.1481-41T>C) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.57675065A= | CA2306103228 | ATP8B1 | c.1631-43T= (n.1631-43T=) c.1464-11T= c.1517-43T= (n.1517-43T=) c.911-43T= (n.911-43T=) c.1481-43T= (n.1481-43T=) | |
18 | g.57675065A>G | CA8974513 | ATP8B1 | c.1631-43T>C (n.1631-43T>C) c.1464-11T>C c.1517-43T>C (n.1517-43T>C) c.911-43T>C (n.911-43T>C) c.1481-43T>C (n.1481-43T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.57675066A>G | CA2641954507 | ATP8B1 | c.1631-44T>C (n.1631-44T>C) c.1464-12T>C c.1517-44T>C (n.1517-44T>C) c.911-44T>C (n.911-44T>C) c.1481-44T>C (n.1481-44T>C) | gnomAD v4 |
18 | g.57675068T>C | CA2641954508 | ATP8B1 | c.1631-46A>G (n.1631-46A>G) c.1464-14A>G c.1517-46A>G (n.1517-46A>G) c.911-46A>G (n.911-46A>G) c.1481-46A>G (n.1481-46A>G) | gnomAD v4 |
18 | g.57675069G>T | CA2576663518 | ATP8B1 | c.1631-47C>A (n.1631-47C>A) c.1464-15C>A c.1517-47C>A (n.1517-47C>A) c.911-47C>A (n.911-47C>A) c.1481-47C>A (n.1481-47C>A) | gnomAD v4 |
18 | g.57675070del | CA2576663519 | ATP8B1 | c.1631-48del (n.1631-48del) c.1464-16del c.1517-48del (n.1517-48del) c.911-48del (n.911-48del) c.1481-48del (n.1481-48del) | |
18 | g.57675072G>C | CA8974514 | ATP8B1 | c.1631-50C>G (n.1631-50C>G) c.1464-18C>G c.1517-50C>G (n.1517-50C>G) c.911-50C>G (n.911-50C>G) c.1481-50C>G (n.1481-50C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.57675072G= | CA2306103229 | ATP8B1 | c.1631-50C= (n.1631-50C=) c.1464-18C= c.1517-50C= (n.1517-50C=) c.911-50C= (n.911-50C=) c.1481-50C= (n.1481-50C=) | |
18 | g.57675074G>T | CA2641954509 | ATP8B1 | c.1631-52C>A (n.1631-52C>A) c.1464-20C>A c.1517-52C>A (n.1517-52C>A) c.911-52C>A (n.911-52C>A) c.1481-52C>A (n.1481-52C>A) | gnomAD v4 |
18 | g.57675075C>A | CA2641954510 | ATP8B1 | c.1631-53G>T (n.1631-53G>T) c.1464-21G>T c.1517-53G>T (n.1517-53G>T) c.911-53G>T (n.911-53G>T) c.1481-53G>T (n.1481-53G>T) | gnomAD v4 |
18 | g.57675075C= | CA2306103230 | ATP8B1 | c.1631-53G= (n.1631-53G=) c.1464-21G= c.1517-53G= (n.1517-53G=) c.911-53G= (n.911-53G=) c.1481-53G= (n.1481-53G=) | |
18 | g.57675075C>T | CA990694771 | ATP8B1 | c.1631-53G>A (n.1631-53G>A) c.1464-21G>A c.1517-53G>A (n.1517-53G>A) c.911-53G>A (n.911-53G>A) c.1481-53G>A (n.1481-53G>A) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.57675077C>A | CA2641954511 | ATP8B1 | c.1631-55G>T (n.1631-55G>T) c.1464-23G>T c.1517-55G>T (n.1517-55G>T) c.911-55G>T (n.911-55G>T) c.1481-55G>T (n.1481-55G>T) | gnomAD v4 |
18 | g.57675078A= | CA2306103232 | ATP8B1 | c.1631-56T= (n.1631-56T=) c.1464-24T= c.1517-56T= (n.1517-56T=) c.911-56T= (n.911-56T=) c.1481-56T= (n.1481-56T=) | |
18 | g.57675078A>C | CA2576663520 | ATP8B1 | c.1631-56T>G (n.1631-56T>G) c.1464-24T>G c.1517-56T>G (n.1517-56T>G) c.911-56T>G (n.911-56T>G) c.1481-56T>G (n.1481-56T>G) | gnomAD v4 |
18 | g.57675078A>G | CA2306103231 | ATP8B1 | c.1631-56T>C (n.1631-56T>C) c.1464-24T>C c.1517-56T>C (n.1517-56T>C) c.911-56T>C (n.911-56T>C) c.1481-56T>C (n.1481-56T>C) | dbSNP gnomAD v4 |