Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41978201G>A | CA406045580 | ATP1A3 | c.1795C>T (p.Arg599Trp) c.1756C>T (p.Arg586Trp) c.1789C>T (p.Arg597Trp) c.1666C>T (p.Arg556Trp) | ClinVar dbSNP gnomAD v2 |
19 | g.41978201G>C | CA406045581 | ATP1A3 | c.1795C>G (p.Arg599Gly) c.1756C>G (p.Arg586Gly) c.1789C>G (p.Arg597Gly) c.1666C>G (p.Arg556Gly) | |
19 | g.41978201G= | CA2336724907 | ATP1A3 | c.1795C= (p.Arg599=) c.1756C= (p.Arg586=) c.1789C= (p.Arg597=) c.1666C= (p.Arg556=) | |
19 | g.41978201G>T | CA507694954 | ATP1A3 | c.1795C>A (p.Arg599=) c.1756C>A (p.Arg586=) c.1789C>A (p.Arg597=) c.1666C>A (p.Arg556=) | dbSNP |
19 | g.41978202G>A | CA507694955 | ATP1A3 | c.1794C>T (p.Pro598=) c.1755C>T (p.Pro585=) c.1788C>T (p.Pro596=) c.1665C>T (p.Pro555=) | ClinVar |
19 | g.41978202G>C | CA507694956 | ATP1A3 | c.1794C>G (p.Pro598=) c.1755C>G (p.Pro585=) c.1788C>G (p.Pro596=) c.1665C>G (p.Pro555=) | ClinVar gnomAD v4 |
19 | g.41978202G>T | CA507694958 | ATP1A3 | c.1794C>A (p.Pro598=) c.1755C>A (p.Pro585=) c.1788C>A (p.Pro596=) c.1665C>A (p.Pro555=) | |
19 | g.41978203G>A | CA406045582 | ATP1A3 | c.1793C>T (p.Pro598Leu) c.1754C>T (p.Pro585Leu) c.1787C>T (p.Pro596Leu) c.1664C>T (p.Pro555Leu) | |
19 | g.41978203G>C | CA406045583 | ATP1A3 | c.1793C>G (p.Pro598Arg) c.1754C>G (p.Pro585Arg) c.1787C>G (p.Pro596Arg) c.1664C>G (p.Pro555Arg) | |
19 | g.41978203G>T | CA406045584 | ATP1A3 | c.1793C>A (p.Pro598His) c.1754C>A (p.Pro585His) c.1787C>A (p.Pro596His) c.1664C>A (p.Pro555His) | |
19 | g.41978204G>A | CA406045585 | ATP1A3 | c.1792C>T (p.Pro598Ser) c.1753C>T (p.Pro585Ser) c.1786C>T (p.Pro596Ser) c.1663C>T (p.Pro555Ser) | |
19 | g.41978204G>C | CA406045586 | ATP1A3 | c.1792C>G (p.Pro598Ala) c.1753C>G (p.Pro585Ala) c.1786C>G (p.Pro596Ala) c.1663C>G (p.Pro555Ala) | |
19 | g.41978204G>T | CA406045587 | ATP1A3 | c.1792C>A (p.Pro598Thr) c.1753C>A (p.Pro585Thr) c.1786C>A (p.Pro596Thr) c.1663C>A (p.Pro555Thr) | |
19 | g.41978205T>A | CA507694961 | ATP1A3 | c.1791A>T (p.Pro597=) c.1752A>T (p.Pro584=) c.1785A>T (p.Pro595=) c.1662A>T (p.Pro554=) | |
19 | g.41978205T>C | CA507694962 | ATP1A3 | c.1791A>G (p.Pro597=) c.1752A>G (p.Pro584=) c.1785A>G (p.Pro595=) c.1662A>G (p.Pro554=) | |
19 | g.41978205T>G | CA507694963 | ATP1A3 | c.1791A>C (p.Pro597=) c.1752A>C (p.Pro584=) c.1785A>C (p.Pro595=) c.1662A>C (p.Pro554=) | |
19 | g.41978206G>A | CA406045589 | ATP1A3 | c.1790C>T (p.Pro597Leu) c.1751C>T (p.Pro584Leu) c.1784C>T (p.Pro595Leu) c.1661C>T (p.Pro554Leu) | |
19 | g.41978206G>C | CA406045590 | ATP1A3 | c.1790C>G (p.Pro597Arg) c.1751C>G (p.Pro584Arg) c.1784C>G (p.Pro595Arg) c.1661C>G (p.Pro554Arg) | |
19 | g.41978206G>T | CA406045588 | ATP1A3 | c.1790C>A (p.Pro597Gln) c.1751C>A (p.Pro584Gln) c.1784C>A (p.Pro595Gln) c.1661C>A (p.Pro554Gln) | |
19 | g.41978207G>A | CA406045593 | ATP1A3 | c.1789C>T (p.Pro597Ser) c.1750C>T (p.Pro584Ser) c.1783C>T (p.Pro595Ser) c.1660C>T (p.Pro554Ser) | |
19 | g.41978207G>C | CA406045591 | ATP1A3 | c.1789C>G (p.Pro597Ala) c.1750C>G (p.Pro584Ala) c.1783C>G (p.Pro595Ala) c.1660C>G (p.Pro554Ala) | |
19 | g.41978207G>T | CA406045592 | ATP1A3 | c.1789C>A (p.Pro597Thr) c.1750C>A (p.Pro584Thr) c.1783C>A (p.Pro595Thr) c.1660C>A (p.Pro554Thr) | |
19 | g.41978208G>A | CA507694964 | ATP1A3 | c.1788C>T (p.Asp596=) c.1749C>T (p.Asp583=) c.1782C>T (p.Asp594=) c.1659C>T (p.Asp553=) | |
19 | g.41978208G>C | CA406045594 | ATP1A3 | c.1788C>G (p.Asp596Glu) c.1749C>G (p.Asp583Glu) c.1782C>G (p.Asp594Glu) c.1659C>G (p.Asp553Glu) | |
19 | g.41978208G>T | CA406045595 | ATP1A3 | c.1788C>A (p.Asp596Glu) c.1749C>A (p.Asp583Glu) c.1782C>A (p.Asp594Glu) c.1659C>A (p.Asp553Glu) | |
19 | g.41978209T>A | CA406045596 | ATP1A3 | c.1787A>T (p.Asp596Val) c.1748A>T (p.Asp583Val) c.1781A>T (p.Asp594Val) c.1658A>T (p.Asp553Val) | |
19 | g.41978209T>C | CA308591768 | ATP1A3 | c.1787A>G (p.Asp596Gly) c.1748A>G (p.Asp583Gly) c.1781A>G (p.Asp594Gly) c.1658A>G (p.Asp553Gly) | dbSNP |
19 | g.41978209T>G | CA406045597 | ATP1A3 | c.1787A>C (p.Asp596Ala) c.1748A>C (p.Asp583Ala) c.1781A>C (p.Asp594Ala) c.1658A>C (p.Asp553Ala) | |
19 | g.41978209T= | CA2336724908 | ATP1A3 | c.1787A= (p.Asp596=) c.1748A= (p.Asp583=) c.1781A= (p.Asp594=) c.1658A= (p.Asp553=) | |
19 | g.41978210C>A | CA406045602 | ATP1A3 | c.1786G>T (p.Asp596Tyr) c.1747G>T (p.Asp583Tyr) c.1780G>T (p.Asp594Tyr) c.1657G>T (p.Asp553Tyr) | |
19 | g.41978210C>G | CA406045599 | ATP1A3 | c.1786G>C (p.Asp596His) c.1747G>C (p.Asp583His) c.1780G>C (p.Asp594His) c.1657G>C (p.Asp553His) | |
19 | g.41978210C>T | CA406045600 | ATP1A3 | c.1786G>A (p.Asp596Asn) c.1747G>A (p.Asp583Asn) c.1780G>A (p.Asp594Asn) c.1657G>A (p.Asp553Asn) | ClinVar dbSNP |
19 | g.41978211G>A | CA9467573 | ATP1A3 | c.1785C>T (p.Ile595=) c.1746C>T (p.Ile582=) c.1779C>T (p.Ile593=) c.1656C>T (p.Ile552=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41978211G>C | CA406045604 | ATP1A3 | c.1785C>G (p.Ile595Met) c.1746C>G (p.Ile582Met) c.1779C>G (p.Ile593Met) c.1656C>G (p.Ile552Met) | |
19 | g.41978211G= | CA2336724909 | ATP1A3 | c.1785C= (p.Ile595=) c.1746C= (p.Ile582=) c.1779C= (p.Ile593=) c.1656C= (p.Ile552=) | |
19 | g.41978211G>T | CA507694969 | ATP1A3 | c.1785C>A (p.Ile595=) c.1746C>A (p.Ile582=) c.1779C>A (p.Ile593=) c.1656C>A (p.Ile552=) | |
19 | g.41978212A>C | CA406045607 | ATP1A3 | c.1784T>G (p.Ile595Ser) c.1745T>G (p.Ile582Ser) c.1778T>G (p.Ile593Ser) c.1655T>G (p.Ile552Ser) | |
19 | g.41978212A>G | CA406045608 | ATP1A3 | c.1784T>C (p.Ile595Thr) c.1745T>C (p.Ile582Thr) c.1778T>C (p.Ile593Thr) c.1655T>C (p.Ile552Thr) | |
19 | g.41978212A>T | CA406045610 | ATP1A3 | c.1784T>A (p.Ile595Asn) c.1745T>A (p.Ile582Asn) c.1778T>A (p.Ile593Asn) c.1655T>A (p.Ile552Asn) | |
19 | g.41978213T>A | CA406045613 | ATP1A3 | c.1783A>T (p.Ile595Phe) c.1744A>T (p.Ile582Phe) c.1777A>T (p.Ile593Phe) c.1654A>T (p.Ile552Phe) | |
19 | g.41978213T>C | CA406045616 | ATP1A3 | c.1783A>G (p.Ile595Val) c.1744A>G (p.Ile582Val) c.1777A>G (p.Ile593Val) c.1654A>G (p.Ile552Val) | |
19 | g.41978213T>G | CA406045614 | ATP1A3 | c.1783A>C (p.Ile595Leu) c.1744A>C (p.Ile582Leu) c.1777A>C (p.Ile593Leu) c.1654A>C (p.Ile552Leu) | |
19 | g.41978214C>A | CA406045618 | ATP1A3 | c.1782G>T (p.Met594Ile) c.1743G>T (p.Met581Ile) c.1776G>T (p.Met592Ile) c.1653G>T (p.Met551Ile) | |
19 | g.41978214C>G | CA406045620 | ATP1A3 | c.1782G>C (p.Met594Ile) c.1743G>C (p.Met581Ile) c.1776G>C (p.Met592Ile) c.1653G>C (p.Met551Ile) | |
19 | g.41978214C>T | CA406045622 | ATP1A3 | c.1782G>A (p.Met594Ile) c.1743G>A (p.Met581Ile) c.1776G>A (p.Met592Ile) c.1653G>A (p.Met551Ile) | |
19 | g.41978215A>C | CA406045624 | ATP1A3 | c.1781T>G (p.Met594Arg) c.1742T>G (p.Met581Arg) c.1775T>G (p.Met592Arg) c.1652T>G (p.Met551Arg) | |
19 | g.41978215A>G | CA406045626 | ATP1A3 | c.1781T>C (p.Met594Thr) c.1742T>C (p.Met581Thr) c.1775T>C (p.Met592Thr) c.1652T>C (p.Met551Thr) | |
19 | g.41978215A>T | CA406045628 | ATP1A3 | c.1781T>A (p.Met594Lys) c.1742T>A (p.Met581Lys) c.1775T>A (p.Met592Lys) c.1652T>A (p.Met551Lys) | |
19 | g.41978216T>A | CA406045630 | ATP1A3 | c.1780A>T (p.Met594Leu) c.1741A>T (p.Met581Leu) c.1774A>T (p.Met592Leu) c.1651A>T (p.Met551Leu) | |
19 | g.41978216T>C | CA406045632 | ATP1A3 | c.1780A>G (p.Met594Val) c.1741A>G (p.Met581Val) c.1774A>G (p.Met592Val) c.1651A>G (p.Met551Val) | gnomAD v4 |
19 | g.41978216T>G | CA406045634 | ATP1A3 | c.1780A>C (p.Met594Leu) c.1741A>C (p.Met581Leu) c.1774A>C (p.Met592Leu) c.1651A>C (p.Met551Leu) | |
19 | g.41978217G>A | CA507694972 | ATP1A3 | c.1779C>T (p.Ser593=) c.1740C>T (p.Ser580=) c.1773C>T (p.Ser591=) c.1650C>T (p.Ser550=) | ClinVar gnomAD v4 |
19 | g.41978217G>C | CA308591791 | ATP1A3 | c.1779C>G (p.Ser593=) c.1740C>G (p.Ser580=) c.1773C>G (p.Ser591=) c.1650C>G (p.Ser550=) | ClinVar dbSNP |
19 | g.41978217G= | CA2336724910 | ATP1A3 | c.1779C= (p.Ser593=) c.1740C= (p.Ser580=) c.1773C= (p.Ser591=) c.1650C= (p.Ser550=) | |
19 | g.41978217G>T | CA507694973 | ATP1A3 | c.1779C>A (p.Ser593=) c.1740C>A (p.Ser580=) c.1773C>A (p.Ser591=) c.1650C>A (p.Ser550=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41978218G>A | CA406045636 | ATP1A3 | c.1778C>T (p.Ser593Phe) c.1739C>T (p.Ser580Phe) c.1772C>T (p.Ser591Phe) c.1649C>T (p.Ser550Phe) | COSMIC |
19 | g.41978218G>C | CA406045637 | ATP1A3 | c.1778C>G (p.Ser593Cys) c.1739C>G (p.Ser580Cys) c.1772C>G (p.Ser591Cys) c.1649C>G (p.Ser550Cys) | |
19 | g.41978218G>T | CA406045640 | ATP1A3 | c.1778C>A (p.Ser593Tyr) c.1739C>A (p.Ser580Tyr) c.1772C>A (p.Ser591Tyr) c.1649C>A (p.Ser550Tyr) | |
19 | g.41978219A>C | CA406045642 | ATP1A3 | c.1777T>G (p.Ser593Ala) c.1738T>G (p.Ser580Ala) c.1771T>G (p.Ser591Ala) c.1648T>G (p.Ser550Ala) | |
19 | g.41978219A>G | CA406045645 | ATP1A3 | c.1777T>C (p.Ser593Pro) c.1738T>C (p.Ser580Pro) c.1771T>C (p.Ser591Pro) c.1648T>C (p.Ser550Pro) | COSMIC |
19 | g.41978219A>T | CA406045643 | ATP1A3 | c.1777T>A (p.Ser593Thr) c.1738T>A (p.Ser580Thr) c.1771T>A (p.Ser591Thr) c.1648T>A (p.Ser550Thr) | |
19 | g.41978220C>A | CA406045648 | ATP1A3 | c.1776G>T (p.Met592Ile) c.1737G>T (p.Met579Ile) c.1770G>T (p.Met590Ile) c.1647G>T (p.Met549Ile) | |
19 | g.41978220C>G | CA406045649 | ATP1A3 | c.1776G>C (p.Met592Ile) c.1737G>C (p.Met579Ile) c.1770G>C (p.Met590Ile) c.1647G>C (p.Met549Ile) | |
19 | g.41978220C>T | CA406045652 | ATP1A3 | c.1776G>A (p.Met592Ile) c.1737G>A (p.Met579Ile) c.1770G>A (p.Met590Ile) c.1647G>A (p.Met549Ile) | |
19 | g.41978221A>C | CA406045654 | ATP1A3 | c.1775T>G (p.Met592Arg) c.1736T>G (p.Met579Arg) c.1769T>G (p.Met590Arg) c.1646T>G (p.Met549Arg) | |
19 | g.41978221A>G | CA406045656 | ATP1A3 | c.1775T>C (p.Met592Thr) c.1736T>C (p.Met579Thr) c.1769T>C (p.Met590Thr) c.1646T>C (p.Met549Thr) | |
19 | g.41978221A>T | CA406045657 | ATP1A3 | c.1775T>A (p.Met592Lys) c.1736T>A (p.Met579Lys) c.1769T>A (p.Met590Lys) c.1646T>A (p.Met549Lys) | |
19 | g.41978222T>A | CA406045660 | ATP1A3 | c.1774A>T (p.Met592Leu) c.1735A>T (p.Met579Leu) c.1768A>T (p.Met590Leu) c.1645A>T (p.Met549Leu) | |
19 | g.41978222T>C | CA406045662 | ATP1A3 | c.1774A>G (p.Met592Val) c.1735A>G (p.Met579Val) c.1768A>G (p.Met590Val) c.1645A>G (p.Met549Val) | gnomAD v4 |
19 | g.41978222T>G | CA9467574 | ATP1A3 | c.1774A>C (p.Met592Leu) c.1735A>C (p.Met579Leu) c.1768A>C (p.Met590Leu) c.1645A>C (p.Met549Leu) | dbSNP ExAC gnomAD v2 |
19 | g.41978222T= | CA2336724911 | ATP1A3 | c.1774A= (p.Met592=) c.1735A= (p.Met579=) c.1768A= (p.Met590=) c.1645A= (p.Met549=) | |
19 | g.41978223G>A | CA507694976 | ATP1A3 | c.1773C>T (p.Leu591=) c.1734C>T (p.Leu578=) c.1767C>T (p.Leu589=) c.1644C>T (p.Leu548=) | |
19 | g.41978223G>C | CA507694977 | ATP1A3 | c.1773C>G (p.Leu591=) c.1734C>G (p.Leu578=) c.1767C>G (p.Leu589=) c.1644C>G (p.Leu548=) | |
19 | g.41978223G>T | CA507694978 | ATP1A3 | c.1773C>A (p.Leu591=) c.1734C>A (p.Leu578=) c.1767C>A (p.Leu589=) c.1644C>A (p.Leu548=) | |
19 | g.41978224A>C | CA406045663 | ATP1A3 | c.1772T>G (p.Leu591Arg) c.1733T>G (p.Leu578Arg) c.1766T>G (p.Leu589Arg) c.1643T>G (p.Leu548Arg) | |
19 | g.41978224A>G | CA406045665 | ATP1A3 | c.1772T>C (p.Leu591Pro) c.1733T>C (p.Leu578Pro) c.1766T>C (p.Leu589Pro) c.1643T>C (p.Leu548Pro) | |
19 | g.41978224A>T | CA406045667 | ATP1A3 | c.1772T>A (p.Leu591His) c.1733T>A (p.Leu578His) c.1766T>A (p.Leu589His) c.1643T>A (p.Leu548His) | |
19 | g.41978225G>A | CA406045673 | ATP1A3 | c.1771C>T (p.Leu591Phe) c.1732C>T (p.Leu578Phe) c.1765C>T (p.Leu589Phe) c.1642C>T (p.Leu548Phe) | |
19 | g.41978225G>C | CA406045671 | ATP1A3 | c.1771C>G (p.Leu591Val) c.1732C>G (p.Leu578Val) c.1765C>G (p.Leu589Val) c.1642C>G (p.Leu548Val) | |
19 | g.41978225G>T | CA406045670 | ATP1A3 | c.1771C>A (p.Leu591Ile) c.1732C>A (p.Leu578Ile) c.1765C>A (p.Leu589Ile) c.1642C>A (p.Leu548Ile) | |
19 | g.41978226G>A | CA507694980 | ATP1A3 | c.1770C>T (p.Gly590=) c.1731C>T (p.Gly577=) c.1764C>T (p.Gly588=) c.1641C>T (p.Gly547=) | |
19 | g.41978226G>C | CA507694981 | ATP1A3 | c.1770C>G (p.Gly590=) c.1731C>G (p.Gly577=) c.1764C>G (p.Gly588=) c.1641C>G (p.Gly547=) | dbSNP |
19 | g.41978226G= | CA2336724912 | ATP1A3 | c.1770C= (p.Gly590=) c.1731C= (p.Gly577=) c.1764C= (p.Gly588=) c.1641C= (p.Gly547=) | |
19 | g.41978226G>T | CA507694982 | ATP1A3 | c.1770C>A (p.Gly590=) c.1731C>A (p.Gly577=) c.1764C>A (p.Gly588=) c.1641C>A (p.Gly547=) | dbSNP |
19 | g.41978227C>A | CA406045676 | ATP1A3 | c.1769G>T (p.Gly590Val) c.1730G>T (p.Gly577Val) c.1763G>T (p.Gly588Val) c.1640G>T (p.Gly547Val) | |
19 | g.41978227C>G | CA406045677 | ATP1A3 | c.1769G>C (p.Gly590Ala) c.1730G>C (p.Gly577Ala) c.1763G>C (p.Gly588Ala) c.1640G>C (p.Gly547Ala) | |
19 | g.41978227C>T | CA406045679 | ATP1A3 | c.1769G>A (p.Gly590Asp) c.1730G>A (p.Gly577Asp) c.1763G>A (p.Gly588Asp) c.1640G>A (p.Gly547Asp) | |
19 | g.41978228C>A | CA406045682 | ATP1A3 | c.1768G>T (p.Gly590Cys) c.1729G>T (p.Gly577Cys) c.1762G>T (p.Gly588Cys) c.1639G>T (p.Gly547Cys) | |
19 | g.41978228C>G | CA406045683 | ATP1A3 | c.1768G>C (p.Gly590Arg) c.1729G>C (p.Gly577Arg) c.1762G>C (p.Gly588Arg) c.1639G>C (p.Gly547Arg) | |
19 | g.41978228C>T | CA406045686 | ATP1A3 | c.1768G>A (p.Gly590Ser) c.1729G>A (p.Gly577Ser) c.1762G>A (p.Gly588Ser) c.1639G>A (p.Gly547Ser) | |
19 | g.41978229C>A | CA507694983 | ATP1A3 | c.1767G>T (p.Val589=) c.1728G>T (p.Val576=) c.1761G>T (p.Val587=) c.1638G>T (p.Val546=) | |
19 | g.41978229C= | CA2336724913 | ATP1A3 | c.1767G= (p.Val589=) c.1728G= (p.Val576=) c.1761G= (p.Val587=) c.1638G= (p.Val546=) | |
19 | g.41978229C>G | CA507694987 | ATP1A3 | c.1767G>C (p.Val589=) c.1728G>C (p.Val576=) c.1761G>C (p.Val587=) c.1638G>C (p.Val546=) | |
19 | g.41978229C>T | CA308591802 | ATP1A3 | c.1767G>A (p.Val589=) c.1728G>A (p.Val576=) c.1761G>A (p.Val587=) c.1638G>A (p.Val546=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.41978230A>C | CA406045688 | ATP1A3 | c.1766T>G (p.Val589Gly) c.1727T>G (p.Val576Gly) c.1760T>G (p.Val587Gly) c.1637T>G (p.Val546Gly) | |
19 | g.41978230A>G | CA406045690 | ATP1A3 | c.1766T>C (p.Val589Ala) c.1727T>C (p.Val576Ala) c.1760T>C (p.Val587Ala) c.1637T>C (p.Val546Ala) | |
19 | g.41978230A>T | CA406045692 | ATP1A3 | c.1766T>A (p.Val589Glu) c.1727T>A (p.Val576Glu) c.1760T>A (p.Val587Glu) c.1637T>A (p.Val546Glu) | |
19 | g.41978231C>A | CA406045694 | ATP1A3 | c.1765G>T (p.Val589Leu) c.1726G>T (p.Val576Leu) c.1759G>T (p.Val587Leu) c.1636G>T (p.Val546Leu) | |
19 | g.41978231C= | CA2336724914 | ATP1A3 | c.1765G= (p.Val589=) c.1726G= (p.Val576=) c.1759G= (p.Val587=) c.1636G= (p.Val546=) | |
19 | g.41978231C>G | CA406045696 | ATP1A3 | c.1765G>C (p.Val589Leu) c.1726G>C (p.Val576Leu) c.1759G>C (p.Val587Leu) c.1636G>C (p.Val546Leu) | |
19 | g.41978231C>T | CA9467575 | ATP1A3 | c.1765G>A (p.Val589Met) c.1726G>A (p.Val576Met) c.1759G>A (p.Val587Met) c.1636G>A (p.Val546Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41978232A>C | CA406045699 | ATP1A3 | c.1764T>G (p.Phe588Leu) c.1725T>G (p.Phe575Leu) c.1758T>G (p.Phe586Leu) c.1635T>G (p.Phe545Leu) | |
19 | g.41978232A>G | CA507694988 | ATP1A3 | c.1764T>C (p.Phe588=) c.1725T>C (p.Phe575=) c.1758T>C (p.Phe586=) c.1635T>C (p.Phe545=) | |
19 | g.41978232A>T | CA406045701 | ATP1A3 | c.1764T>A (p.Phe588Leu) c.1725T>A (p.Phe575Leu) c.1758T>A (p.Phe586Leu) c.1635T>A (p.Phe545Leu) | |
19 | g.41978233A>C | CA406045703 | ATP1A3 | c.1763T>G (p.Phe588Cys) c.1724T>G (p.Phe575Cys) c.1757T>G (p.Phe586Cys) c.1634T>G (p.Phe545Cys) | |
19 | g.41978233A>G | CA406045707 | ATP1A3 | c.1763T>C (p.Phe588Ser) c.1724T>C (p.Phe575Ser) c.1757T>C (p.Phe586Ser) c.1634T>C (p.Phe545Ser) | |
19 | g.41978233A>T | CA406045705 | ATP1A3 | c.1763T>A (p.Phe588Tyr) c.1724T>A (p.Phe575Tyr) c.1757T>A (p.Phe586Tyr) c.1634T>A (p.Phe545Tyr) | |
19 | g.41978234A>C | CA406045709 | ATP1A3 | c.1762T>G (p.Phe588Val) c.1723T>G (p.Phe575Val) c.1756T>G (p.Phe586Val) c.1633T>G (p.Phe545Val) | |
19 | g.41978234A>G | CA406045711 | ATP1A3 | c.1762T>C (p.Phe588Leu) c.1723T>C (p.Phe575Leu) c.1756T>C (p.Phe586Leu) c.1633T>C (p.Phe545Leu) | |
19 | g.41978234A>T | CA406045713 | ATP1A3 | c.1762T>A (p.Phe588Ile) c.1723T>A (p.Phe575Ile) c.1756T>A (p.Phe586Ile) c.1633T>A (p.Phe545Ile) | |
19 | g.41978235G>A | CA507694991 | ATP1A3 | c.1761C>T (p.Cys587=) c.1722C>T (p.Cys574=) c.1755C>T (p.Cys585=) c.1632C>T (p.Cys544=) | |
19 | g.41978235G>C | CA406045715 | ATP1A3 | c.1761C>G (p.Cys587Trp) c.1722C>G (p.Cys574Trp) c.1755C>G (p.Cys585Trp) c.1632C>G (p.Cys544Trp) | |
19 | g.41978235G>T | CA406045717 | ATP1A3 | c.1761C>A (p.Cys587Ter) c.1722C>A (p.Cys574Ter) c.1755C>A (p.Cys585Ter) c.1632C>A (p.Cys544Ter) | |
19 | g.41978236C>A | CA406045719 | ATP1A3 | c.1760G>T (p.Cys587Phe) c.1721G>T (p.Cys574Phe) c.1754G>T (p.Cys585Phe) c.1631G>T (p.Cys544Phe) | |
19 | g.41978236C= | CA2336724915 | ATP1A3 | c.1760G= (p.Cys587=) c.1721G= (p.Cys574=) c.1754G= (p.Cys585=) c.1631G= (p.Cys544=) | |
19 | g.41978236C>G | CA406045721 | ATP1A3 | c.1760G>C (p.Cys587Ser) c.1721G>C (p.Cys574Ser) c.1754G>C (p.Cys585Ser) c.1631G>C (p.Cys544Ser) | |
19 | g.41978236C>T | CA406045723 | ATP1A3 | c.1760G>A (p.Cys587Tyr) c.1721G>A (p.Cys574Tyr) c.1754G>A (p.Cys585Tyr) c.1631G>A (p.Cys544Tyr) | ClinVar dbSNP |
19 | g.41978237A>C | CA406045725 | ATP1A3 | c.1759T>G (p.Cys587Gly) c.1720T>G (p.Cys574Gly) c.1753T>G (p.Cys585Gly) c.1630T>G (p.Cys544Gly) | |
19 | g.41978237A>G | CA406045727 | ATP1A3 | c.1759T>C (p.Cys587Arg) c.1720T>C (p.Cys574Arg) c.1753T>C (p.Cys585Arg) c.1630T>C (p.Cys544Arg) | |
19 | g.41978237A>T | CA406045729 | ATP1A3 | c.1759T>A (p.Cys587Ser) c.1720T>A (p.Cys574Ser) c.1753T>A (p.Cys585Ser) c.1630T>A (p.Cys544Ser) | |
19 | g.41978238G>A | CA507694994 | ATP1A3 | c.1758C>T (p.Leu586=) c.1719C>T (p.Leu573=) c.1752C>T (p.Leu584=) c.1629C>T (p.Leu543=) | |
19 | g.41978238G>C | CA507694995 | ATP1A3 | c.1758C>G (p.Leu586=) c.1719C>G (p.Leu573=) c.1752C>G (p.Leu584=) c.1629C>G (p.Leu543=) | |
19 | g.41978238G= | CA2336724916 | ATP1A3 | c.1758C= (p.Leu586=) c.1719C= (p.Leu573=) c.1752C= (p.Leu584=) c.1629C= (p.Leu543=) | |
19 | g.41978238G>T | CA10652045 | ATP1A3 | c.1758C>A (p.Leu586=) c.1719C>A (p.Leu573=) c.1752C>A (p.Leu584=) c.1629C>A (p.Leu543=) | ClinVar dbSNP gnomAD v4 |
19 | g.41978239A>C | CA406045737 | ATP1A3 | c.1757T>G (p.Leu586Arg) c.1718T>G (p.Leu573Arg) c.1751T>G (p.Leu584Arg) c.1628T>G (p.Leu543Arg) | |
19 | g.41978239A>G | CA406045733 | ATP1A3 | c.1757T>C (p.Leu586Pro) c.1718T>C (p.Leu573Pro) c.1751T>C (p.Leu584Pro) c.1628T>C (p.Leu543Pro) | |
19 | g.41978239A>T | CA406045735 | ATP1A3 | c.1757T>A (p.Leu586His) c.1718T>A (p.Leu573His) c.1751T>A (p.Leu584His) c.1628T>A (p.Leu543His) | |
19 | g.41978240G>A | CA406045739 | ATP1A3 | c.1756C>T (p.Leu586Phe) c.1717C>T (p.Leu573Phe) c.1750C>T (p.Leu584Phe) c.1627C>T (p.Leu543Phe) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41978240G>C | CA406045740 | ATP1A3 | c.1756C>G (p.Leu586Val) c.1717C>G (p.Leu573Val) c.1750C>G (p.Leu584Val) c.1627C>G (p.Leu543Val) | |
19 | g.41978240G= | CA2336724917 | ATP1A3 | c.1756C= (p.Leu586=) c.1717C= (p.Leu573=) c.1750C= (p.Leu584=) c.1627C= (p.Leu543=) | |
19 | g.41978240G>T | CA406045743 | ATP1A3 | c.1756C>A (p.Leu586Ile) c.1717C>A (p.Leu573Ile) c.1750C>A (p.Leu584Ile) c.1627C>A (p.Leu543Ile) | |
19 | g.41978241G>A | CA9467576 | ATP1A3 | c.1755C>T (p.Asn585=) c.1716C>T (p.Asn572=) c.1749C>T (p.Asn583=) c.1626C>T (p.Asn542=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978241G>C | CA406045745 | ATP1A3 | c.1755C>G (p.Asn585Lys) c.1716C>G (p.Asn572Lys) c.1749C>G (p.Asn583Lys) c.1626C>G (p.Asn542Lys) | ClinVar dbSNP |
19 | g.41978241G= | CA2336724918 | ATP1A3 | c.1755C= (p.Asn585=) c.1716C= (p.Asn572=) c.1749C= (p.Asn583=) c.1626C= (p.Asn542=) | |
19 | g.41978241G>T | CA406045747 | ATP1A3 | c.1755C>A (p.Asn585Lys) c.1716C>A (p.Asn572Lys) c.1749C>A (p.Asn583Lys) c.1626C>A (p.Asn542Lys) | dbSNP |
19 | g.41978242T>A | CA406045749 | ATP1A3 | c.1754A>T (p.Asn585Ile) c.1715A>T (p.Asn572Ile) c.1748A>T (p.Asn583Ile) c.1625A>T (p.Asn542Ile) | |
19 | g.41978242T>C | CA406045751 | ATP1A3 | c.1754A>G (p.Asn585Ser) c.1715A>G (p.Asn572Ser) c.1748A>G (p.Asn583Ser) c.1625A>G (p.Asn542Ser) | ClinVar dbSNP gnomAD v4 |
19 | g.41978242T>G | CA406045753 | ATP1A3 | c.1754A>C (p.Asn585Thr) c.1715A>C (p.Asn572Thr) c.1748A>C (p.Asn583Thr) c.1625A>C (p.Asn542Thr) | |
19 | g.41978243T>A | CA406045755 | ATP1A3 | c.1753A>T (p.Asn585Tyr) c.1714A>T (p.Asn572Tyr) c.1747A>T (p.Asn583Tyr) c.1624A>T (p.Asn542Tyr) | |
19 | g.41978243T>C | CA9467577 | ATP1A3 | c.1753A>G (p.Asn585Asp) c.1714A>G (p.Asn572Asp) c.1747A>G (p.Asn583Asp) c.1624A>G (p.Asn542Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978243T>G | CA406045758 | ATP1A3 | c.1753A>C (p.Asn585His) c.1714A>C (p.Asn572His) c.1747A>C (p.Asn583His) c.1624A>C (p.Asn542His) | |
19 | g.41978243T= | CA2336724919 | ATP1A3 | c.1753A= (p.Asn585=) c.1714A= (p.Asn572=) c.1747A= (p.Asn583=) c.1624A= (p.Asn542=) | |
19 | g.41978244G>A | CA507694996 | ATP1A3 | c.1752C>T (p.Asp584=) c.1713C>T (p.Asp571=) c.1746C>T (p.Asp582=) c.1623C>T (p.Asp541=) | |
19 | g.41978244G>C | CA406045761 | ATP1A3 | c.1752C>G (p.Asp584Glu) c.1713C>G (p.Asp571Glu) c.1746C>G (p.Asp582Glu) c.1623C>G (p.Asp541Glu) | gnomAD v4 |
19 | g.41978244G= | CA2336724920 | ATP1A3 | c.1752C= (p.Asp584=) c.1713C= (p.Asp571=) c.1746C= (p.Asp582=) c.1623C= (p.Asp541=) | |
19 | g.41978244G>T | CA406045759 | ATP1A3 | c.1752C>A (p.Asp584Glu) c.1713C>A (p.Asp571Glu) c.1746C>A (p.Asp582Glu) c.1623C>A (p.Asp541Glu) | ClinVar dbSNP gnomAD v4 |
19 | g.41978245T>A | CA406045763 | ATP1A3 | c.1751A>T (p.Asp584Val) c.1712A>T (p.Asp571Val) c.1745A>T (p.Asp582Val) c.1622A>T (p.Asp541Val) | |
19 | g.41978245T>C | CA406045766 | ATP1A3 | c.1751A>G (p.Asp584Gly) c.1712A>G (p.Asp571Gly) c.1745A>G (p.Asp582Gly) c.1622A>G (p.Asp541Gly) | |
19 | g.41978245T>G | CA406045764 | ATP1A3 | c.1751A>C (p.Asp584Ala) c.1712A>C (p.Asp571Ala) c.1745A>C (p.Asp582Ala) c.1622A>C (p.Asp541Ala) | |
19 | g.41978246C>A | CA406045768 | ATP1A3 | c.1750G>T (p.Asp584Tyr) c.1711G>T (p.Asp571Tyr) c.1744G>T (p.Asp582Tyr) c.1621G>T (p.Asp541Tyr) | COSMIC |
19 | g.41978246C= | CA2336724921 | ATP1A3 | c.1750G= (p.Asp584=) c.1711G= (p.Asp571=) c.1744G= (p.Asp582=) c.1621G= (p.Asp541=) | |
19 | g.41978246C>G | CA406045770 | ATP1A3 | c.1750G>C (p.Asp584His) c.1711G>C (p.Asp571His) c.1744G>C (p.Asp582His) c.1621G>C (p.Asp541His) | |
19 | g.41978246C>T | CA9467578 | ATP1A3 | c.1750G>A (p.Asp584Asn) c.1711G>A (p.Asp571Asn) c.1744G>A (p.Asp582Asn) c.1621G>A (p.Asp541Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41978247C>A | CA507694998 | ATP1A3 | c.1749G>T (p.Thr583=) c.1710G>T (p.Thr570=) c.1743G>T (p.Thr581=) c.1620G>T (p.Thr540=) | |
19 | g.41978247C= | CA2336724922 | ATP1A3 | c.1749G= (p.Thr583=) c.1710G= (p.Thr570=) c.1743G= (p.Thr581=) c.1620G= (p.Thr540=) | |
19 | g.41978247C>G | CA507694997 | ATP1A3 | c.1749G>C (p.Thr583=) c.1710G>C (p.Thr570=) c.1743G>C (p.Thr581=) c.1620G>C (p.Thr540=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41978247C>T | CA9467579 | ATP1A3 | c.1749G>A (p.Thr583=) c.1710G>A (p.Thr570=) c.1743G>A (p.Thr581=) c.1620G>A (p.Thr540=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
19 | g.41978248G>A | CA406045774 | ATP1A3 | c.1748C>T (p.Thr583Met) c.1709C>T (p.Thr570Met) c.1742C>T (p.Thr581Met) c.1619C>T (p.Thr540Met) | ClinVar dbSNP |
19 | g.41978248G>C | CA406045775 | ATP1A3 | c.1748C>G (p.Thr583Arg) c.1709C>G (p.Thr570Arg) c.1742C>G (p.Thr581Arg) c.1619C>G (p.Thr540Arg) | |
19 | g.41978248G= | CA2336724923 | ATP1A3 | c.1748C= (p.Thr583=) c.1709C= (p.Thr570=) c.1742C= (p.Thr581=) c.1619C= (p.Thr540=) | |
19 | g.41978248G>T | CA406045776 | ATP1A3 | c.1748C>A (p.Thr583Lys) c.1709C>A (p.Thr570Lys) c.1742C>A (p.Thr581Lys) c.1619C>A (p.Thr540Lys) | |
19 | g.41978249T>A | CA406045779 | ATP1A3 | c.1747A>T (p.Thr583Ser) c.1708A>T (p.Thr570Ser) c.1741A>T (p.Thr581Ser) c.1618A>T (p.Thr540Ser) | |
19 | g.41978249T>C | CA406045780 | ATP1A3 | c.1747A>G (p.Thr583Ala) c.1708A>G (p.Thr570Ala) c.1741A>G (p.Thr581Ala) c.1618A>G (p.Thr540Ala) | |
19 | g.41978249T>G | CA406045782 | ATP1A3 | c.1747A>C (p.Thr583Pro) c.1708A>C (p.Thr570Pro) c.1741A>C (p.Thr581Pro) c.1618A>C (p.Thr540Pro) | |
19 | g.41978250G>A | CA507695002 | ATP1A3 | c.1746C>T (p.Thr582=) c.1707C>T (p.Thr569=) c.1740C>T (p.Thr580=) c.1617C>T (p.Thr539=) | |
19 | g.41978250G>C | CA507695003 | ATP1A3 | c.1746C>G (p.Thr582=) c.1707C>G (p.Thr569=) c.1740C>G (p.Thr580=) c.1617C>G (p.Thr539=) | |
19 | g.41978250G= | CA2336724924 | ATP1A3 | c.1746C= (p.Thr582=) c.1707C= (p.Thr569=) c.1740C= (p.Thr580=) c.1617C= (p.Thr539=) | |
19 | g.41978250G>T | CA9467580 | ATP1A3 | c.1746C>A (p.Thr582=) c.1707C>A (p.Thr569=) c.1740C>A (p.Thr580=) c.1617C>A (p.Thr539=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41978251G>A | CA406045788 | ATP1A3 | c.1745C>T (p.Thr582Ile) c.1706C>T (p.Thr569Ile) c.1739C>T (p.Thr580Ile) c.1616C>T (p.Thr539Ile) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41978251G>C | CA406045787 | ATP1A3 | c.1745C>G (p.Thr582Ser) c.1706C>G (p.Thr569Ser) c.1739C>G (p.Thr580Ser) c.1616C>G (p.Thr539Ser) | |
19 | g.41978251G= | CA2336724925 | ATP1A3 | c.1745C= (p.Thr582=) c.1706C= (p.Thr569=) c.1739C= (p.Thr580=) c.1616C= (p.Thr539=) | |
19 | g.41978251G>T | CA406045784 | ATP1A3 | c.1745C>A (p.Thr582Asn) c.1706C>A (p.Thr569Asn) c.1739C>A (p.Thr580Asn) c.1616C>A (p.Thr539Asn) | |
19 | g.41978252T>A | CA406045790 | ATP1A3 | c.1744A>T (p.Thr582Ser) c.1705A>T (p.Thr569Ser) c.1738A>T (p.Thr580Ser) c.1615A>T (p.Thr539Ser) | |
19 | g.41978252T>C | CA406045791 | ATP1A3 | c.1744A>G (p.Thr582Ala) c.1705A>G (p.Thr569Ala) c.1738A>G (p.Thr580Ala) c.1615A>G (p.Thr539Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41978252T>G | CA406045792 | ATP1A3 | c.1744A>C (p.Thr582Pro) c.1705A>C (p.Thr569Pro) c.1738A>C (p.Thr580Pro) c.1615A>C (p.Thr539Pro) | |
19 | g.41978252T= | CA2336724926 | ATP1A3 | c.1744A= (p.Thr582=) c.1705A= (p.Thr569=) c.1738A= (p.Thr580=) c.1615A= (p.Thr539=) | |
19 | g.41978253G>A | CA507695005 | ATP1A3 | c.1743C>T (p.Phe581=) c.1704C>T (p.Phe568=) c.1737C>T (p.Phe579=) c.1614C>T (p.Phe538=) | |
19 | g.41978253G>C | CA406045794 | ATP1A3 | c.1743C>G (p.Phe581Leu) c.1704C>G (p.Phe568Leu) c.1737C>G (p.Phe579Leu) c.1614C>G (p.Phe538Leu) | |
19 | g.41978253G>T | CA406045795 | ATP1A3 | c.1743C>A (p.Phe581Leu) c.1704C>A (p.Phe568Leu) c.1737C>A (p.Phe579Leu) c.1614C>A (p.Phe538Leu) | |
19 | g.41978254A>C | CA406045797 | ATP1A3 | c.1742T>G (p.Phe581Cys) c.1703T>G (p.Phe568Cys) c.1736T>G (p.Phe579Cys) c.1613T>G (p.Phe538Cys) | |
19 | g.41978254A>G | CA406045799 | ATP1A3 | c.1742T>C (p.Phe581Ser) c.1703T>C (p.Phe568Ser) c.1736T>C (p.Phe579Ser) c.1613T>C (p.Phe538Ser) | |
19 | g.41978254A>T | CA406045801 | ATP1A3 | c.1742T>A (p.Phe581Tyr) c.1703T>A (p.Phe568Tyr) c.1736T>A (p.Phe579Tyr) c.1613T>A (p.Phe538Tyr) | |
19 | g.41978255A>C | CA406045803 | ATP1A3 | c.1741T>G (p.Phe581Val) c.1702T>G (p.Phe568Val) c.1735T>G (p.Phe579Val) c.1612T>G (p.Phe538Val) | |
19 | g.41978255A>G | CA406045804 | ATP1A3 | c.1741T>C (p.Phe581Leu) c.1702T>C (p.Phe568Leu) c.1735T>C (p.Phe579Leu) c.1612T>C (p.Phe538Leu) | |
19 | g.41978255A>T | CA406045806 | ATP1A3 | c.1741T>A (p.Phe581Ile) c.1702T>A (p.Phe568Ile) c.1735T>A (p.Phe579Ile) c.1612T>A (p.Phe538Ile) | |
19 | g.41978256G>A | CA507695007 | ATP1A3 | c.1740C>T (p.Asn580=) c.1701C>T (p.Asn567=) c.1734C>T (p.Asn578=) c.1611C>T (p.Asn537=) | gnomAD v4 |
19 | g.41978256G>C | CA406045808 | ATP1A3 | c.1740C>G (p.Asn580Lys) c.1701C>G (p.Asn567Lys) c.1734C>G (p.Asn578Lys) c.1611C>G (p.Asn537Lys) | |
19 | g.41978256G>T | CA406045809 | ATP1A3 | c.1740C>A (p.Asn580Lys) c.1701C>A (p.Asn567Lys) c.1734C>A (p.Asn578Lys) c.1611C>A (p.Asn537Lys) | |
19 | g.41978257T>A | CA406045814 | ATP1A3 | c.1739A>T (p.Asn580Ile) c.1700A>T (p.Asn567Ile) c.1733A>T (p.Asn578Ile) c.1610A>T (p.Asn537Ile) | |
19 | g.41978257T>C | CA406045816 | ATP1A3 | c.1739A>G (p.Asn580Ser) c.1700A>G (p.Asn567Ser) c.1733A>G (p.Asn578Ser) c.1610A>G (p.Asn537Ser) | |
19 | g.41978257T>G | CA406045812 | ATP1A3 | c.1739A>C (p.Asn580Thr) c.1700A>C (p.Asn567Thr) c.1733A>C (p.Asn578Thr) c.1610A>C (p.Asn537Thr) | |
19 | g.41978258T>A | CA406045818 | ATP1A3 | c.1738A>T (p.Asn580Tyr) c.1699A>T (p.Asn567Tyr) c.1732A>T (p.Asn578Tyr) c.1609A>T (p.Asn537Tyr) | |
19 | g.41978258T>C | CA406045822 | ATP1A3 | c.1738A>G (p.Asn580Asp) c.1699A>G (p.Asn567Asp) c.1732A>G (p.Asn578Asp) c.1609A>G (p.Asn537Asp) | |
19 | g.41978258T>G | CA406045820 | ATP1A3 | c.1738A>C (p.Asn580His) c.1699A>C (p.Asn567His) c.1732A>C (p.Asn578His) c.1609A>C (p.Asn537His) | |
19 | g.41978259C>A | CA507695008 | ATP1A3 | c.1737G>T (p.Val579=) c.1698G>T (p.Val566=) c.1731G>T (p.Val577=) c.1608G>T (p.Val536=) | |
19 | g.41978259C= | CA2336724927 | ATP1A3 | c.1737G= (p.Val579=) c.1698G= (p.Val566=) c.1731G= (p.Val577=) c.1608G= (p.Val536=) | |
19 | g.41978259C>G | CA507695009 | ATP1A3 | c.1737G>C (p.Val579=) c.1698G>C (p.Val566=) c.1731G>C (p.Val577=) c.1608G>C (p.Val536=) | |
19 | g.41978259C>T | CA507695010 | ATP1A3 | c.1737G>A (p.Val579=) c.1698G>A (p.Val566=) c.1731G>A (p.Val577=) c.1608G>A (p.Val536=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.41978259_41978260insCCCGCGCAATAGGTATCGACAGCCTCGCGGTAAGCACGCACGACGGTATCGACATACTCGGGGCCACGCGCACGGCCCTCGATCTTGAGG | CA2814442103 | ATP1A3 | c.1736_1737insCCTCAAGATCGAGGGCCGTGCGCGTGGCCCCGAGTATGTCGATACCGTCGTGCGTGCTTACCGCGAGGCTGTCGATACCTATTGCGCGGG (p.Val579_Asn580insLeuLysIleGluGlyArgAlaArgGlyProGluTyrValAspThrValValArgAlaTyrArgGluAlaValAspThrTyrCysAlaGly) c.1697_1698insCCTCAAGATCGAGGGCCGTGCGCGTGGCCCCGAGTATGTCGATACCGTCGTGCGTGCTTACCGCGAGGCTGTCGATACCTATTGCGCGGG (p.Val566_Asn567insLeuLysIleGluGlyArgAlaArgGlyProGluTyrValAspThrValValArgAlaTyrArgGluAlaValAspThrTyrCysAlaGly) c.1730_1731insCCTCAAGATCGAGGGCCGTGCGCGTGGCCCCGAGTATGTCGATACCGTCGTGCGTGCTTACCGCGAGGCTGTCGATACCTATTGCGCGGG (p.Val577_Asn578insLeuLysIleGluGlyArgAlaArgGlyProGluTyrValAspThrValValArgAlaTyrArgGluAlaValAspThrTyrCysAlaGly) c.1607_1608insCCTCAAGATCGAGGGCCGTGCGCGTGGCCCCGAGTATGTCGATACCGTCGTGCGTGCTTACCGCGAGGCTGTCGATACCTATTGCGCGGG (p.Val536_Asn537insLeuLysIleGluGlyArgAlaArgGlyProGluTyrValAspThrValValArgAlaTyrArgGluAlaValAspThrTyrCysAlaGly) | |
19 | g.41978260A>C | CA406045824 | ATP1A3 | c.1736T>G (p.Val579Gly) c.1697T>G (p.Val566Gly) c.1730T>G (p.Val577Gly) c.1607T>G (p.Val536Gly) | |
19 | g.41978260A>G | CA406045828 | ATP1A3 | c.1736T>C (p.Val579Ala) c.1697T>C (p.Val566Ala) c.1730T>C (p.Val577Ala) c.1607T>C (p.Val536Ala) | gnomAD v4 |
19 | g.41978260A>T | CA406045826 | ATP1A3 | c.1736T>A (p.Val579Glu) c.1697T>A (p.Val566Glu) c.1730T>A (p.Val577Glu) c.1607T>A (p.Val536Glu) | |
19 | g.41978261C>A | CA406045830 | ATP1A3 | c.1735G>T (p.Val579Leu) c.1696G>T (p.Val566Leu) c.1729G>T (p.Val577Leu) c.1606G>T (p.Val536Leu) | |
19 | g.41978261C= | CA2336724928 | ATP1A3 | c.1735G= (p.Val579=) c.1696G= (p.Val566=) c.1729G= (p.Val577=) c.1606G= (p.Val536=) | |
19 | g.41978261C>G | CA406045834 | ATP1A3 | c.1735G>C (p.Val579Leu) c.1696G>C (p.Val566Leu) c.1729G>C (p.Val577Leu) c.1606G>C (p.Val536Leu) | dbSNP |
19 | g.41978261C>T | CA406045832 | ATP1A3 | c.1735G>A (p.Val579Met) c.1696G>A (p.Val566Met) c.1729G>A (p.Val577Met) c.1606G>A (p.Val536Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978262G>A | CA9467581 | ATP1A3 | c.1734C>T (p.Asp578=) c.1695C>T (p.Asp565=) c.1728C>T (p.Asp576=) c.1605C>T (p.Asp535=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978262G>C | CA406045839 | ATP1A3 | c.1734C>G (p.Asp578Glu) c.1695C>G (p.Asp565Glu) c.1728C>G (p.Asp576Glu) c.1605C>G (p.Asp535Glu) | |
19 | g.41978262G= | CA2336724929 | ATP1A3 | c.1734C= (p.Asp578=) c.1695C= (p.Asp565=) c.1728C= (p.Asp576=) c.1605C= (p.Asp535=) | |
19 | g.41978262G>T | CA406045837 | ATP1A3 | c.1734C>A (p.Asp578Glu) c.1695C>A (p.Asp565Glu) c.1728C>A (p.Asp576Glu) c.1605C>A (p.Asp535Glu) | gnomAD v4 |
19 | g.41978263T>A | CA406045841 | ATP1A3 | c.1733A>T (p.Asp578Val) c.1694A>T (p.Asp565Val) c.1727A>T (p.Asp576Val) c.1604A>T (p.Asp535Val) | |
19 | g.41978263T>C | CA406045843 | ATP1A3 | c.1733A>G (p.Asp578Gly) c.1694A>G (p.Asp565Gly) c.1727A>G (p.Asp576Gly) c.1604A>G (p.Asp535Gly) | |
19 | g.41978263T>G | CA406045845 | ATP1A3 | c.1733A>C (p.Asp578Ala) c.1694A>C (p.Asp565Ala) c.1727A>C (p.Asp576Ala) c.1604A>C (p.Asp535Ala) | |
19 | g.41978264C>A | CA406045847 | ATP1A3 | c.1732G>T (p.Asp578Tyr) c.1693G>T (p.Asp565Tyr) c.1726G>T (p.Asp576Tyr) c.1603G>T (p.Asp535Tyr) | |
19 | g.41978264C>G | CA406045849 | ATP1A3 | c.1732G>C (p.Asp578His) c.1693G>C (p.Asp565His) c.1726G>C (p.Asp576His) c.1603G>C (p.Asp535His) | |
19 | g.41978264C>T | CA406045850 | ATP1A3 | c.1732G>A (p.Asp578Asn) c.1693G>A (p.Asp565Asn) c.1726G>A (p.Asp576Asn) c.1603G>A (p.Asp535Asn) | |
19 | g.41978265A>C | CA406045853 | ATP1A3 | c.1731T>G (p.Asp577Glu) c.1692T>G (p.Asp564Glu) c.1725T>G (p.Asp575Glu) c.1602T>G (p.Asp534Glu) | |
19 | g.41978265A>G | CA507695018 | ATP1A3 | c.1731T>C (p.Asp577=) c.1692T>C (p.Asp564=) c.1725T>C (p.Asp575=) c.1602T>C (p.Asp534=) | |
19 | g.41978265A>T | CA406045855 | ATP1A3 | c.1731T>A (p.Asp577Glu) c.1692T>A (p.Asp564Glu) c.1725T>A (p.Asp575Glu) c.1602T>A (p.Asp534Glu) | |
19 | g.41978266T>A | CA406045857 | ATP1A3 | c.1730A>T (p.Asp577Val) c.1691A>T (p.Asp564Val) c.1724A>T (p.Asp575Val) c.1601A>T (p.Asp534Val) | |
19 | g.41978266T>C | CA406045859 | ATP1A3 | c.1730A>G (p.Asp577Gly) c.1691A>G (p.Asp564Gly) c.1724A>G (p.Asp575Gly) c.1601A>G (p.Asp534Gly) | |
19 | g.41978266T>G | CA406045861 | ATP1A3 | c.1730A>C (p.Asp577Ala) c.1691A>C (p.Asp564Ala) c.1724A>C (p.Asp575Ala) c.1601A>C (p.Asp534Ala) | |
19 | g.41978267C>A | CA406045867 | ATP1A3 | c.1729G>T (p.Asp577Tyr) c.1690G>T (p.Asp564Tyr) c.1723G>T (p.Asp575Tyr) c.1600G>T (p.Asp534Tyr) | |
19 | g.41978267C>G | CA406045863 | ATP1A3 | c.1729G>C (p.Asp577His) c.1690G>C (p.Asp564His) c.1723G>C (p.Asp575His) c.1600G>C (p.Asp534His) | |
19 | g.41978267C>T | CA406045865 | ATP1A3 | c.1729G>A (p.Asp577Asn) c.1690G>A (p.Asp564Asn) c.1723G>A (p.Asp575Asn) c.1600G>A (p.Asp534Asn) | |
19 | g.41978268A>C | CA406045868 | ATP1A3 | c.1728T>G (p.Cys576Trp) c.1689T>G (p.Cys563Trp) c.1722T>G (p.Cys574Trp) c.1599T>G (p.Cys533Trp) | |
19 | g.41978268A>G | CA507695021 | ATP1A3 | c.1728T>C (p.Cys576=) c.1689T>C (p.Cys563=) c.1722T>C (p.Cys574=) c.1599T>C (p.Cys533=) | |
19 | g.41978268A>T | CA406045871 | ATP1A3 | c.1728T>A (p.Cys576Ter) c.1689T>A (p.Cys563Ter) c.1722T>A (p.Cys574Ter) c.1599T>A (p.Cys533Ter) | |
19 | g.41978269C>A | CA406045873 | ATP1A3 | c.1727G>T (p.Cys576Phe) c.1688G>T (p.Cys563Phe) c.1721G>T (p.Cys574Phe) c.1598G>T (p.Cys533Phe) | |
19 | g.41978269C>G | CA406045875 | ATP1A3 | c.1727G>C (p.Cys576Ser) c.1688G>C (p.Cys563Ser) c.1721G>C (p.Cys574Ser) c.1598G>C (p.Cys533Ser) | |
19 | g.41978269C>T | CA406045877 | ATP1A3 | c.1727G>A (p.Cys576Tyr) c.1688G>A (p.Cys563Tyr) c.1721G>A (p.Cys574Tyr) c.1598G>A (p.Cys533Tyr) | ClinVar dbSNP |
19 | g.41978270A>C | CA406045879 | ATP1A3 | c.1726T>G (p.Cys576Gly) c.1687T>G (p.Cys563Gly) c.1720T>G (p.Cys574Gly) c.1597T>G (p.Cys533Gly) | |
19 | g.41978270A>G | CA406045881 | ATP1A3 | c.1726T>C (p.Cys576Arg) c.1687T>C (p.Cys563Arg) c.1720T>C (p.Cys574Arg) c.1597T>C (p.Cys533Arg) | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978270A>T | CA406045883 | ATP1A3 | c.1726T>A (p.Cys576Ser) c.1687T>A (p.Cys563Ser) c.1720T>A (p.Cys574Ser) c.1597T>A (p.Cys533Ser) | |
19 | g.41978271G>A | CA507695024 | ATP1A3 | c.1725C>T (p.Asp575=) c.1686C>T (p.Asp562=) c.1719C>T (p.Asp573=) c.1596C>T (p.Asp532=) | dbSNP gnomAD v4 |
19 | g.41978271G>C | CA406045885 | ATP1A3 | c.1725C>G (p.Asp575Glu) c.1686C>G (p.Asp562Glu) c.1719C>G (p.Asp573Glu) c.1596C>G (p.Asp532Glu) | dbSNP |
19 | g.41978271G= | CA2336724930 | ATP1A3 | c.1725C= (p.Asp575=) c.1686C= (p.Asp562=) c.1719C= (p.Asp573=) c.1596C= (p.Asp532=) | |
19 | g.41978271G>T | CA406045887 | ATP1A3 | c.1725C>A (p.Asp575Glu) c.1686C>A (p.Asp562Glu) c.1719C>A (p.Asp573Glu) c.1596C>A (p.Asp532Glu) | |
19 | g.41978272T>A | CA406045900 | ATP1A3 | c.1724A>T (p.Asp575Val) c.1685A>T (p.Asp562Val) c.1718A>T (p.Asp573Val) c.1595A>T (p.Asp532Val) | |
19 | g.41978272T>C | CA406045898 | ATP1A3 | c.1724A>G (p.Asp575Gly) c.1685A>G (p.Asp562Gly) c.1718A>G (p.Asp573Gly) c.1595A>G (p.Asp532Gly) | |
19 | g.41978272T>G | CA406045890 | ATP1A3 | c.1724A>C (p.Asp575Ala) c.1685A>C (p.Asp562Ala) c.1718A>C (p.Asp573Ala) c.1595A>C (p.Asp532Ala) | gnomAD v4 |
19 | g.41978273C>A | CA406045902 | ATP1A3 | c.1723G>T (p.Asp575Tyr) c.1684G>T (p.Asp562Tyr) c.1717G>T (p.Asp573Tyr) c.1594G>T (p.Asp532Tyr) | gnomAD v4 |
19 | g.41978273C>G | CA406045904 | ATP1A3 | c.1723G>C (p.Asp575His) c.1684G>C (p.Asp562His) c.1717G>C (p.Asp573His) c.1594G>C (p.Asp532His) | |
19 | g.41978273C>T | CA406045905 | ATP1A3 | c.1723G>A (p.Asp575Asn) c.1684G>A (p.Asp562Asn) c.1717G>A (p.Asp573Asn) c.1594G>A (p.Asp532Asn) | gnomAD v4 |
19 | g.41978274G>A | CA9467582 | ATP1A3 | c.1722C>T (p.Phe574=) c.1683C>T (p.Phe561=) c.1716C>T (p.Phe572=) c.1593C>T (p.Phe531=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41978274G>C | CA406045912 | ATP1A3 | c.1722C>G (p.Phe574Leu) c.1683C>G (p.Phe561Leu) c.1716C>G (p.Phe572Leu) c.1593C>G (p.Phe531Leu) | |
19 | g.41978274G= | CA2336724931 | ATP1A3 | c.1722C= (p.Phe574=) c.1683C= (p.Phe561=) c.1716C= (p.Phe572=) c.1593C= (p.Phe531=) | |
19 | g.41978274G>T | CA406045914 | ATP1A3 | c.1722C>A (p.Phe574Leu) c.1683C>A (p.Phe561Leu) c.1716C>A (p.Phe572Leu) c.1593C>A (p.Phe531Leu) | |
19 | g.41978275A= | CA2336724932 | ATP1A3 | c.1721T= (p.Phe574=) c.1682T= (p.Phe561=) c.1715T= (p.Phe572=) c.1592T= (p.Phe531=) | |
19 | g.41978275A>C | CA406045917 | ATP1A3 | c.1721T>G (p.Phe574Cys) c.1682T>G (p.Phe561Cys) c.1715T>G (p.Phe572Cys) c.1592T>G (p.Phe531Cys) | |
19 | g.41978275A>G | CA9467583 | ATP1A3 | c.1721T>C (p.Phe574Ser) c.1682T>C (p.Phe561Ser) c.1715T>C (p.Phe572Ser) c.1592T>C (p.Phe531Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41978275A>T | CA406045919 | ATP1A3 | c.1721T>A (p.Phe574Tyr) c.1682T>A (p.Phe561Tyr) c.1715T>A (p.Phe572Tyr) c.1592T>A (p.Phe531Tyr) | |
19 | g.41978276A>C | CA406045921 | ATP1A3 | c.1720T>G (p.Phe574Val) c.1681T>G (p.Phe561Val) c.1714T>G (p.Phe572Val) c.1591T>G (p.Phe531Val) | |
19 | g.41978276A>G | CA406045923 | ATP1A3 | c.1720T>C (p.Phe574Leu) c.1681T>C (p.Phe561Leu) c.1714T>C (p.Phe572Leu) c.1591T>C (p.Phe531Leu) | |
19 | g.41978276A>T | CA406045925 | ATP1A3 | c.1720T>A (p.Phe574Ile) c.1681T>A (p.Phe561Ile) c.1714T>A (p.Phe572Ile) c.1591T>A (p.Phe531Ile) | |
19 | g.41978277G>A | CA507695027 | ATP1A3 | c.1719C>T (p.Ala573=) c.1680C>T (p.Ala560=) c.1713C>T (p.Ala571=) c.1590C>T (p.Ala530=) | |
19 | g.41978277G>C | CA507695028 | ATP1A3 | c.1719C>G (p.Ala573=) c.1680C>G (p.Ala560=) c.1713C>G (p.Ala571=) c.1590C>G (p.Ala530=) | |
19 | g.41978277G>T | CA507695029 | ATP1A3 | c.1719C>A (p.Ala573=) c.1680C>A (p.Ala560=) c.1713C>A (p.Ala571=) c.1590C>A (p.Ala530=) | |
19 | g.41978278G>A | CA406045930 | ATP1A3 | c.1718C>T (p.Ala573Val) c.1679C>T (p.Ala560Val) c.1712C>T (p.Ala571Val) c.1589C>T (p.Ala530Val) | gnomAD v4 |
19 | g.41978278G>C | CA406045926 | ATP1A3 | c.1718C>G (p.Ala573Gly) c.1679C>G (p.Ala560Gly) c.1712C>G (p.Ala571Gly) c.1589C>G (p.Ala530Gly) | |
19 | g.41978278G= | CA2336724933 | ATP1A3 | c.1718C= (p.Ala573=) c.1679C= (p.Ala560=) c.1712C= (p.Ala571=) c.1589C= (p.Ala530=) | |
19 | g.41978278G>T | CA406045928 | ATP1A3 | c.1718C>A (p.Ala573Asp) c.1679C>A (p.Ala560Asp) c.1712C>A (p.Ala571Asp) c.1589C>A (p.Ala530Asp) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41978279C>A | CA406045932 | ATP1A3 | c.1717G>T (p.Ala573Ser) c.1678G>T (p.Ala560Ser) c.1711G>T (p.Ala571Ser) c.1588G>T (p.Ala530Ser) | |
19 | g.41978279C>G | CA406045937 | ATP1A3 | c.1717G>C (p.Ala573Pro) c.1678G>C (p.Ala560Pro) c.1711G>C (p.Ala571Pro) c.1588G>C (p.Ala530Pro) | |
19 | g.41978279C>T | CA406045939 | ATP1A3 | c.1717G>A (p.Ala573Thr) c.1678G>A (p.Ala560Thr) c.1711G>A (p.Ala571Thr) c.1588G>A (p.Ala530Thr) | |
19 | g.41978280A= | CA2336724934 | ATP1A3 | c.1716T= (p.Phe572=) c.1677T= (p.Phe559=) c.1710T= (p.Phe570=) c.1587T= (p.Phe529=) | |
19 | g.41978280A>C | CA406045941 | ATP1A3 | c.1716T>G (p.Phe572Leu) c.1677T>G (p.Phe559Leu) c.1710T>G (p.Phe570Leu) c.1587T>G (p.Phe529Leu) | |
19 | g.41978280A>G | CA507695031 | ATP1A3 | c.1716T>C (p.Phe572=) c.1677T>C (p.Phe559=) c.1710T>C (p.Phe570=) c.1587T>C (p.Phe529=) | dbSNP gnomAD v2 |
19 | g.41978280A>T | CA406045944 | ATP1A3 | c.1716T>A (p.Phe572Leu) c.1677T>A (p.Phe559Leu) c.1710T>A (p.Phe570Leu) c.1587T>A (p.Phe529Leu) | |
19 | g.41978281A>C | CA406045946 | ATP1A3 | c.1715T>G (p.Phe572Cys) c.1676T>G (p.Phe559Cys) c.1709T>G (p.Phe570Cys) c.1586T>G (p.Phe529Cys) | |
19 | g.41978281A>G | CA406045948 | ATP1A3 | c.1715T>C (p.Phe572Ser) c.1676T>C (p.Phe559Ser) c.1709T>C (p.Phe570Ser) c.1586T>C (p.Phe529Ser) | |
19 | g.41978281A>T | CA406045950 | ATP1A3 | c.1715T>A (p.Phe572Tyr) c.1676T>A (p.Phe559Tyr) c.1709T>A (p.Phe570Tyr) c.1586T>A (p.Phe529Tyr) | |
19 | g.41978282A>C | CA406045953 | ATP1A3 | c.1714T>G (p.Phe572Val) c.1675T>G (p.Phe559Val) c.1708T>G (p.Phe570Val) c.1585T>G (p.Phe529Val) | |
19 | g.41978282A>G | CA406045954 | ATP1A3 | c.1714T>C (p.Phe572Leu) c.1675T>C (p.Phe559Leu) c.1708T>C (p.Phe570Leu) c.1585T>C (p.Phe529Leu) | |
19 | g.41978282A>T | CA406045955 | ATP1A3 | c.1714T>A (p.Phe572Ile) c.1675T>A (p.Phe559Ile) c.1708T>A (p.Phe570Ile) c.1585T>A (p.Phe529Ile) | |
19 | g.41978283G>A | CA507695035 | ATP1A3 | c.1713C>T (p.Gly571=) c.1674C>T (p.Gly558=) c.1707C>T (p.Gly569=) c.1584C>T (p.Gly528=) | |
19 | g.41978283G>C | CA507695036 | ATP1A3 | c.1713C>G (p.Gly571=) c.1674C>G (p.Gly558=) c.1707C>G (p.Gly569=) c.1584C>G (p.Gly528=) | |
19 | g.41978283G>T | CA507695034 | ATP1A3 | c.1713C>A (p.Gly571=) c.1674C>A (p.Gly558=) c.1707C>A (p.Gly569=) c.1584C>A (p.Gly528=) | |
19 | g.41978284C>A | CA406045960 | ATP1A3 | c.1712G>T (p.Gly571Val) c.1673G>T (p.Gly558Val) c.1706G>T (p.Gly569Val) c.1583G>T (p.Gly528Val) | |
19 | g.41978284C= | CA2336724935 | ATP1A3 | c.1712G= (p.Gly571=) c.1673G= (p.Gly558=) c.1706G= (p.Gly569=) c.1583G= (p.Gly528=) | |
19 | g.41978284C>G | CA406045959 | ATP1A3 | c.1712G>C (p.Gly571Ala) c.1673G>C (p.Gly558Ala) c.1706G>C (p.Gly569Ala) c.1583G>C (p.Gly528Ala) | |
19 | g.41978284C>T | CA406045958 | ATP1A3 | c.1712G>A (p.Gly571Asp) c.1673G>A (p.Gly558Asp) c.1706G>A (p.Gly569Asp) c.1583G>A (p.Gly528Asp) | ClinVar dbSNP |
19 | g.41978285C>A | CA406045963 | ATP1A3 | c.1711G>T (p.Gly571Cys) c.1672G>T (p.Gly558Cys) c.1705G>T (p.Gly569Cys) c.1582G>T (p.Gly528Cys) | |
19 | g.41978285C= | CA2336724936 | ATP1A3 | c.1711G= (p.Gly571=) c.1672G= (p.Gly558=) c.1705G= (p.Gly569=) c.1582G= (p.Gly528=) | |
19 | g.41978285C>G | CA406045965 | ATP1A3 | c.1711G>C (p.Gly571Arg) c.1672G>C (p.Gly558Arg) c.1705G>C (p.Gly569Arg) c.1582G>C (p.Gly528Arg) | |
19 | g.41978285C>T | CA9467584 | ATP1A3 | c.1711G>A (p.Gly571Ser) c.1672G>A (p.Gly558Ser) c.1705G>A (p.Gly569Ser) c.1582G>A (p.Gly528Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978286C>A | CA406045967 | ATP1A3 | c.1710G>T (p.Lys570Asn) c.1671G>T (p.Lys557Asn) c.1704G>T (p.Lys568Asn) c.1581G>T (p.Lys527Asn) | |
19 | g.41978286C>G | CA406045969 | ATP1A3 | c.1710G>C (p.Lys570Asn) c.1671G>C (p.Lys557Asn) c.1704G>C (p.Lys568Asn) c.1581G>C (p.Lys527Asn) | |
19 | g.41978286C>T | CA507695041 | ATP1A3 | c.1710G>A (p.Lys570=) c.1671G>A (p.Lys557=) c.1704G>A (p.Lys568=) c.1581G>A (p.Lys527=) | |
19 | g.41978287T>A | CA406045970 | ATP1A3 | c.1709A>T (p.Lys570Met) c.1670A>T (p.Lys557Met) c.1703A>T (p.Lys568Met) c.1580A>T (p.Lys527Met) | |
19 | g.41978287T>C | CA406045972 | ATP1A3 | c.1709A>G (p.Lys570Arg) c.1670A>G (p.Lys557Arg) c.1703A>G (p.Lys568Arg) c.1580A>G (p.Lys527Arg) | ClinVar dbSNP |
19 | g.41978287T>G | CA406045974 | ATP1A3 | c.1709A>C (p.Lys570Thr) c.1670A>C (p.Lys557Thr) c.1703A>C (p.Lys568Thr) c.1580A>C (p.Lys527Thr) | |
19 | g.41978288T>A | CA406045976 | ATP1A3 | c.1708A>T (p.Lys570Ter) c.1669A>T (p.Lys557Ter) c.1702A>T (p.Lys568Ter) c.1579A>T (p.Lys527Ter) | |
19 | g.41978288T>C | CA406045978 | ATP1A3 | c.1708A>G (p.Lys570Glu) c.1669A>G (p.Lys557Glu) c.1702A>G (p.Lys568Glu) c.1579A>G (p.Lys527Glu) | |
19 | g.41978288T>G | CA406045980 | ATP1A3 | c.1708A>C (p.Lys570Gln) c.1669A>C (p.Lys557Gln) c.1702A>C (p.Lys568Gln) c.1579A>C (p.Lys527Gln) | |
19 | g.41978289G>A | CA507695044 | ATP1A3 | c.1707C>T (p.Pro569=) c.1668C>T (p.Pro556=) c.1701C>T (p.Pro567=) c.1578C>T (p.Pro526=) | |
19 | g.41978289G>C | CA507695045 | ATP1A3 | c.1707C>G (p.Pro569=) c.1668C>G (p.Pro556=) c.1701C>G (p.Pro567=) c.1578C>G (p.Pro526=) | |
19 | g.41978289G>T | CA507695046 | ATP1A3 | c.1707C>A (p.Pro569=) c.1668C>A (p.Pro556=) c.1701C>A (p.Pro567=) c.1578C>A (p.Pro526=) | |
19 | g.41978290G>A | CA406045982 | ATP1A3 | c.1706C>T (p.Pro569Leu) c.1667C>T (p.Pro556Leu) c.1700C>T (p.Pro567Leu) c.1577C>T (p.Pro526Leu) | gnomAD v4 |
19 | g.41978290G>C | CA406045984 | ATP1A3 | c.1706C>G (p.Pro569Arg) c.1667C>G (p.Pro556Arg) c.1700C>G (p.Pro567Arg) c.1577C>G (p.Pro526Arg) | |
19 | g.41978290G>T | CA406045986 | ATP1A3 | c.1706C>A (p.Pro569His) c.1667C>A (p.Pro556His) c.1700C>A (p.Pro567His) c.1577C>A (p.Pro526His) | |
19 | g.41978291G>A | CA406045996 | ATP1A3 | c.1705C>T (p.Pro569Ser) c.1666C>T (p.Pro556Ser) c.1699C>T (p.Pro567Ser) c.1576C>T (p.Pro526Ser) | dbSNP |
19 | g.41978291G>C | CA406045989 | ATP1A3 | c.1705C>G (p.Pro569Ala) c.1666C>G (p.Pro556Ala) c.1699C>G (p.Pro567Ala) c.1576C>G (p.Pro526Ala) | |
19 | g.41978291G= | CA2336724937 | ATP1A3 | c.1705C= (p.Pro569=) c.1666C= (p.Pro556=) c.1699C= (p.Pro567=) c.1576C= (p.Pro526=) | |
19 | g.41978291G>T | CA406045994 | ATP1A3 | c.1705C>A (p.Pro569Thr) c.1666C>A (p.Pro556Thr) c.1699C>A (p.Pro567Thr) c.1576C>A (p.Pro526Thr) | |
19 | g.41978292G>A | CA507695048 | ATP1A3 | c.1704C>T (p.Phe568=) c.1665C>T (p.Phe555=) c.1698C>T (p.Phe566=) c.1575C>T (p.Phe525=) | |
19 | g.41978292G>C | CA406045998 | ATP1A3 | c.1704C>G (p.Phe568Leu) c.1665C>G (p.Phe555Leu) c.1698C>G (p.Phe566Leu) c.1575C>G (p.Phe525Leu) | |
19 | g.41978292G>T | CA406045999 | ATP1A3 | c.1704C>A (p.Phe568Leu) c.1665C>A (p.Phe555Leu) c.1698C>A (p.Phe566Leu) c.1575C>A (p.Phe525Leu) | |
19 | g.41978293A>C | CA406046008 | ATP1A3 | c.1703T>G (p.Phe568Cys) c.1664T>G (p.Phe555Cys) c.1697T>G (p.Phe566Cys) c.1574T>G (p.Phe525Cys) | |
19 | g.41978293A>G | CA406046009 | ATP1A3 | c.1703T>C (p.Phe568Ser) c.1664T>C (p.Phe555Ser) c.1697T>C (p.Phe566Ser) c.1574T>C (p.Phe525Ser) | |
19 | g.41978293A>T | CA406046012 | ATP1A3 | c.1703T>A (p.Phe568Tyr) c.1664T>A (p.Phe555Tyr) c.1697T>A (p.Phe566Tyr) c.1574T>A (p.Phe525Tyr) | |
19 | g.41978294A>C | CA406046015 | ATP1A3 | c.1702T>G (p.Phe568Val) c.1663T>G (p.Phe555Val) c.1696T>G (p.Phe566Val) c.1573T>G (p.Phe525Val) | |
19 | g.41978294A>G | CA406046018 | ATP1A3 | c.1702T>C (p.Phe568Leu) c.1663T>C (p.Phe555Leu) c.1696T>C (p.Phe566Leu) c.1573T>C (p.Phe525Leu) | |
19 | g.41978294A>T | CA406046021 | ATP1A3 | c.1702T>A (p.Phe568Ile) c.1663T>A (p.Phe555Ile) c.1696T>A (p.Phe566Ile) c.1573T>A (p.Phe525Ile) | |
19 | g.41978295C>A | CA406046024 | ATP1A3 | c.1701G>T (p.Gln567His) c.1662G>T (p.Gln554His) c.1695G>T (p.Gln565His) c.1572G>T (p.Gln524His) | |
19 | g.41978295C>G | CA406046026 | ATP1A3 | c.1701G>C (p.Gln567His) c.1662G>C (p.Gln554His) c.1695G>C (p.Gln565His) c.1572G>C (p.Gln524His) | |
19 | g.41978295C>T | CA507695052 | ATP1A3 | c.1701G>A (p.Gln567=) c.1662G>A (p.Gln554=) c.1695G>A (p.Gln565=) c.1572G>A (p.Gln524=) | |
19 | g.41978296T>A | CA406046032 | ATP1A3 | c.1700A>T (p.Gln567Leu) c.1661A>T (p.Gln554Leu) c.1694A>T (p.Gln565Leu) c.1571A>T (p.Gln524Leu) | |
19 | g.41978296T>C | CA406046035 | ATP1A3 | c.1700A>G (p.Gln567Arg) c.1661A>G (p.Gln554Arg) c.1694A>G (p.Gln565Arg) c.1571A>G (p.Gln524Arg) | |
19 | g.41978296T>G | CA406046029 | ATP1A3 | c.1700A>C (p.Gln567Pro) c.1661A>C (p.Gln554Pro) c.1694A>C (p.Gln565Pro) c.1571A>C (p.Gln524Pro) | |
19 | g.41978297G>A | CA308591844 | ATP1A3 | c.1699C>T (p.Gln567Ter) c.1660C>T (p.Gln554Ter) c.1693C>T (p.Gln565Ter) c.1570C>T (p.Gln524Ter) | dbSNP gnomAD v4 |
19 | g.41978297G>C | CA406046038 | ATP1A3 | c.1699C>G (p.Gln567Glu) c.1660C>G (p.Gln554Glu) c.1693C>G (p.Gln565Glu) c.1570C>G (p.Gln524Glu) | |
19 | g.41978297G= | CA2336724938 | ATP1A3 | c.1699C= (p.Gln567=) c.1660C= (p.Gln554=) c.1693C= (p.Gln565=) c.1570C= (p.Gln524=) | |
19 | g.41978297G>T | CA406046039 | ATP1A3 | c.1699C>A (p.Gln567Lys) c.1660C>A (p.Gln554Lys) c.1693C>A (p.Gln565Lys) c.1570C>A (p.Gln524Lys) | gnomAD v4 |
19 | g.41978298C>A | CA406046042 | ATP1A3 | c.1698G>T (p.Glu566Asp) c.1659G>T (p.Glu553Asp) c.1692G>T (p.Glu564Asp) c.1569G>T (p.Glu523Asp) | gnomAD v4 |
19 | g.41978298C>G | CA406046043 | ATP1A3 | c.1698G>C (p.Glu566Asp) c.1659G>C (p.Glu553Asp) c.1692G>C (p.Glu564Asp) c.1569G>C (p.Glu523Asp) | |
19 | g.41978298C>T | CA507695057 | ATP1A3 | c.1698G>A (p.Glu566=) c.1659G>A (p.Glu553=) c.1692G>A (p.Glu564=) c.1569G>A (p.Glu523=) | gnomAD v4 |
19 | g.41978299T>A | CA406046047 | ATP1A3 | c.1697A>T (p.Glu566Val) c.1658A>T (p.Glu553Val) c.1691A>T (p.Glu564Val) c.1568A>T (p.Glu523Val) | |
19 | g.41978299T>C | CA406046049 | ATP1A3 | c.1697A>G (p.Glu566Gly) c.1658A>G (p.Glu553Gly) c.1691A>G (p.Glu564Gly) c.1568A>G (p.Glu523Gly) | gnomAD v4 |
19 | g.41978299T>G | CA406046051 | ATP1A3 | c.1697A>C (p.Glu566Ala) c.1658A>C (p.Glu553Ala) c.1691A>C (p.Glu564Ala) c.1568A>C (p.Glu523Ala) | |
19 | g.41978300C>A | CA406046054 | ATP1A3 | c.1696G>T (p.Glu566Ter) c.1657G>T (p.Glu553Ter) c.1690G>T (p.Glu564Ter) c.1567G>T (p.Glu523Ter) | gnomAD v4 |
19 | g.41978300C= | CA2336724939 | ATP1A3 | c.1696G= (p.Glu566=) c.1657G= (p.Glu553=) c.1690G= (p.Glu564=) c.1567G= (p.Glu523=) | |
19 | g.41978300C>G | CA406046058 | ATP1A3 | c.1696G>C (p.Glu566Gln) c.1657G>C (p.Glu553Gln) c.1690G>C (p.Glu564Gln) c.1567G>C (p.Glu523Gln) | |
19 | g.41978300C>T | CA406046060 | ATP1A3 | c.1696G>A (p.Glu566Lys) c.1657G>A (p.Glu553Lys) c.1690G>A (p.Glu564Lys) c.1567G>A (p.Glu523Lys) | ClinVar dbSNP gnomAD v4 |
19 | g.41978301C>A | CA406046064 | ATP1A3 | c.1695G>T (p.Glu565Asp) c.1656G>T (p.Glu552Asp) c.1689G>T (p.Glu563Asp) c.1566G>T (p.Glu522Asp) | gnomAD v4 |
19 | g.41978301C= | CA2336724940 | ATP1A3 | c.1695G= (p.Glu565=) c.1656G= (p.Glu552=) c.1689G= (p.Glu563=) c.1566G= (p.Glu522=) | |
19 | g.41978301C>G | CA406046067 | ATP1A3 | c.1695G>C (p.Glu565Asp) c.1656G>C (p.Glu552Asp) c.1689G>C (p.Glu563Asp) c.1566G>C (p.Glu522Asp) | |
19 | g.41978301C>T | CA507695063 | ATP1A3 | c.1695G>A (p.Glu565=) c.1656G>A (p.Glu552=) c.1689G>A (p.Glu563=) c.1566G>A (p.Glu522=) | dbSNP |