Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41978168_41978176delCA2580097322ATP1A3c.1823_1831del (p.Lys608_Arg610del)
c.1784_1792del (p.Lys595_Arg597del)
c.1817_1825del (p.Lys606_Arg608del)
c.1694_1702del (p.Lys565_Arg567del)
ClinVar
19g.41978176C>ACA406045480ATP1A3c.1820G>T (p.Gly607Val)
c.1781G>T (p.Gly594Val)
c.1814G>T (p.Gly605Val)
c.1691G>T (p.Gly564Val)
19g.41978176C>GCA406045481ATP1A3c.1820G>C (p.Gly607Ala)
c.1781G>C (p.Gly594Ala)
c.1814G>C (p.Gly605Ala)
c.1691G>C (p.Gly564Ala)
ClinVar dbSNP
19g.41978176C>TCA406045483ATP1A3c.1820G>A (p.Gly607Asp)
c.1781G>A (p.Gly594Asp)
c.1814G>A (p.Gly605Asp)
c.1691G>A (p.Gly564Asp)
19g.41978177C>ACA406045485ATP1A3c.1819G>T (p.Gly607Cys)
c.1780G>T (p.Gly594Cys)
c.1813G>T (p.Gly605Cys)
c.1690G>T (p.Gly564Cys)
19g.41978177C>GCA406045489ATP1A3c.1819G>C (p.Gly607Arg)
c.1780G>C (p.Gly594Arg)
c.1813G>C (p.Gly605Arg)
c.1690G>C (p.Gly564Arg)
19g.41978177C>TCA406045487ATP1A3c.1819G>A (p.Gly607Ser)
c.1780G>A (p.Gly594Ser)
c.1813G>A (p.Gly605Ser)
c.1690G>A (p.Gly564Ser)
19g.41978178C>ACA507694914ATP1A3c.1818G>T (p.Val606=)
c.1779G>T (p.Val593=)
c.1812G>T (p.Val604=)
c.1689G>T (p.Val563=)
19g.41978178C>GCA507694915ATP1A3c.1818G>C (p.Val606=)
c.1779G>C (p.Val593=)
c.1812G>C (p.Val604=)
c.1689G>C (p.Val563=)
19g.41978178C>TCA507694916ATP1A3c.1818G>A (p.Val606=)
c.1779G>A (p.Val593=)
c.1812G>A (p.Val604=)
c.1689G>A (p.Val563=)
gnomAD v4
19g.41978179A>CCA406045491ATP1A3c.1817T>G (p.Val606Gly)
c.1778T>G (p.Val593Gly)
c.1811T>G (p.Val604Gly)
c.1688T>G (p.Val563Gly)
19g.41978179A>GCA406045496ATP1A3c.1817T>C (p.Val606Ala)
c.1778T>C (p.Val593Ala)
c.1811T>C (p.Val604Ala)
c.1688T>C (p.Val563Ala)
19g.41978179A>TCA406045493ATP1A3c.1817T>A (p.Val606Glu)
c.1778T>A (p.Val593Glu)
c.1811T>A (p.Val604Glu)
c.1688T>A (p.Val563Glu)
19g.41978180C>ACA406045498ATP1A3c.1816G>T (p.Val606Leu)
c.1777G>T (p.Val593Leu)
c.1810G>T (p.Val604Leu)
c.1687G>T (p.Val563Leu)
19g.41978180C>GCA406045500ATP1A3c.1816G>C (p.Val606Leu)
c.1777G>C (p.Val593Leu)
c.1810G>C (p.Val604Leu)
c.1687G>C (p.Val563Leu)
19g.41978180C>TCA406045502ATP1A3c.1816G>A (p.Val606Met)
c.1777G>A (p.Val593Met)
c.1810G>A (p.Val604Met)
c.1687G>A (p.Val563Met)
19g.41978181C>ACA507694920ATP1A3c.1815G>T (p.Ala605=)
c.1776G>T (p.Ala592=)
c.1809G>T (p.Ala603=)
c.1686G>T (p.Ala562=)
19g.41978181C=CA2336724897ATP1A3c.1815G= (p.Ala605=)
c.1776G= (p.Ala592=)
c.1809G= (p.Ala603=)
c.1686G= (p.Ala562=)
19g.41978181C>GCA507694922ATP1A3c.1815G>C (p.Ala605=)
c.1776G>C (p.Ala592=)
c.1809G>C (p.Ala603=)
c.1686G>C (p.Ala562=)
19g.41978181C>TCA9467570ATP1A3c.1815G>A (p.Ala605=)
c.1776G>A (p.Ala592=)
c.1809G>A (p.Ala603=)
c.1686G>A (p.Ala562=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41978182G>ACA406045505ATP1A3c.1814C>T (p.Ala605Val)
c.1775C>T (p.Ala592Val)
c.1808C>T (p.Ala603Val)
c.1685C>T (p.Ala562Val)
ClinVar dbSNP COSMIC
19g.41978182G>CCA406045507ATP1A3c.1814C>G (p.Ala605Gly)
c.1775C>G (p.Ala592Gly)
c.1808C>G (p.Ala603Gly)
c.1685C>G (p.Ala562Gly)
19g.41978182G=CA2336724898ATP1A3c.1814C= (p.Ala605=)
c.1775C= (p.Ala592=)
c.1808C= (p.Ala603=)
c.1685C= (p.Ala562=)
19g.41978182G>TCA406045509ATP1A3c.1814C>A (p.Ala605Glu)
c.1775C>A (p.Ala592Glu)
c.1808C>A (p.Ala603Glu)
c.1685C>A (p.Ala562Glu)
ClinVar dbSNP
19g.41978183C>ACA406045511ATP1A3c.1813G>T (p.Ala605Ser)
c.1774G>T (p.Ala592Ser)
c.1807G>T (p.Ala603Ser)
c.1684G>T (p.Ala562Ser)
19g.41978183C>GCA406045512ATP1A3c.1813G>C (p.Ala605Pro)
c.1774G>C (p.Ala592Pro)
c.1807G>C (p.Ala603Pro)
c.1684G>C (p.Ala562Pro)
19g.41978183C>TCA406045515ATP1A3c.1813G>A (p.Ala605Thr)
c.1774G>A (p.Ala592Thr)
c.1807G>A (p.Ala603Thr)
c.1684G>A (p.Ala562Thr)
gnomAD v4
19g.41978184G>ACA9467571ATP1A3c.1812C>T (p.Asp604=)
c.1773C>T (p.Asp591=)
c.1806C>T (p.Asp602=)
c.1683C>T (p.Asp561=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41978184G>CCA406045518ATP1A3c.1812C>G (p.Asp604Glu)
c.1773C>G (p.Asp591Glu)
c.1806C>G (p.Asp602Glu)
c.1683C>G (p.Asp561Glu)
19g.41978184G=CA2336724899ATP1A3c.1812C= (p.Asp604=)
c.1773C= (p.Asp591=)
c.1806C= (p.Asp602=)
c.1683C= (p.Asp561=)
19g.41978184G>TCA406045520ATP1A3c.1812C>A (p.Asp604Glu)
c.1773C>A (p.Asp591Glu)
c.1806C>A (p.Asp602Glu)
c.1683C>A (p.Asp561Glu)
19g.41978185T>ACA406045522ATP1A3c.1811A>T (p.Asp604Val)
c.1772A>T (p.Asp591Val)
c.1805A>T (p.Asp602Val)
c.1682A>T (p.Asp561Val)
19g.41978185T>CCA406045526ATP1A3c.1811A>G (p.Asp604Gly)
c.1772A>G (p.Asp591Gly)
c.1805A>G (p.Asp602Gly)
c.1682A>G (p.Asp561Gly)
19g.41978185T>GCA406045524ATP1A3c.1811A>C (p.Asp604Ala)
c.1772A>C (p.Asp591Ala)
c.1805A>C (p.Asp602Ala)
c.1682A>C (p.Asp561Ala)
19g.41978186C>ACA406045528ATP1A3c.1810G>T (p.Asp604Tyr)
c.1771G>T (p.Asp591Tyr)
c.1804G>T (p.Asp602Tyr)
c.1681G>T (p.Asp561Tyr)
19g.41978186C>GCA406045529ATP1A3c.1810G>C (p.Asp604His)
c.1771G>C (p.Asp591His)
c.1804G>C (p.Asp602His)
c.1681G>C (p.Asp561His)
19g.41978186C>TCA406045531ATP1A3c.1810G>A (p.Asp604Asn)
c.1771G>A (p.Asp591Asn)
c.1804G>A (p.Asp602Asn)
c.1681G>A (p.Asp561Asn)
19g.41978187A>CCA507694927ATP1A3c.1809T>G (p.Pro603=)
c.1770T>G (p.Pro590=)
c.1803T>G (p.Pro601=)
c.1680T>G (p.Pro560=)
19g.41978187A>GCA507694930ATP1A3c.1809T>C (p.Pro603=)
c.1770T>C (p.Pro590=)
c.1803T>C (p.Pro601=)
c.1680T>C (p.Pro560=)
19g.41978187A>TCA507694929ATP1A3c.1809T>A (p.Pro603=)
c.1770T>A (p.Pro590=)
c.1803T>A (p.Pro601=)
c.1680T>A (p.Pro560=)
19g.41978188G>ACA406045533ATP1A3c.1808C>T (p.Pro603Leu)
c.1769C>T (p.Pro590Leu)
c.1802C>T (p.Pro601Leu)
c.1679C>T (p.Pro560Leu)
19g.41978188G>CCA406045535ATP1A3c.1808C>G (p.Pro603Arg)
c.1769C>G (p.Pro590Arg)
c.1802C>G (p.Pro601Arg)
c.1679C>G (p.Pro560Arg)
19g.41978188G>TCA406045536ATP1A3c.1808C>A (p.Pro603His)
c.1769C>A (p.Pro590His)
c.1802C>A (p.Pro601His)
c.1679C>A (p.Pro560His)
19g.41978189G>ACA406045539ATP1A3c.1807C>T (p.Pro603Ser)
c.1768C>T (p.Pro590Ser)
c.1801C>T (p.Pro601Ser)
c.1678C>T (p.Pro560Ser)
19g.41978189G>CCA406045541ATP1A3c.1807C>G (p.Pro603Ala)
c.1768C>G (p.Pro590Ala)
c.1801C>G (p.Pro601Ala)
c.1678C>G (p.Pro560Ala)
19g.41978189G>TCA406045543ATP1A3c.1807C>A (p.Pro603Thr)
c.1768C>A (p.Pro590Thr)
c.1801C>A (p.Pro601Thr)
c.1678C>A (p.Pro560Thr)
19g.41978190G>ACA507694933ATP1A3c.1806C>T (p.Val602=)
c.1767C>T (p.Val589=)
c.1800C>T (p.Val600=)
c.1677C>T (p.Val559=)
19g.41978190G>CCA507694934ATP1A3c.1806C>G (p.Val602=)
c.1767C>G (p.Val589=)
c.1800C>G (p.Val600=)
c.1677C>G (p.Val559=)
19g.41978190G=CA2336724900ATP1A3c.1806C= (p.Val602=)
c.1767C= (p.Val589=)
c.1800C= (p.Val600=)
c.1677C= (p.Val559=)
19g.41978190G>TCA507694935ATP1A3c.1806C>A (p.Val602=)
c.1767C>A (p.Val589=)
c.1800C>A (p.Val600=)
c.1677C>A (p.Val559=)
dbSNP gnomAD v3 gnomAD v4
19g.41978191A>CCA406045549ATP1A3c.1805T>G (p.Val602Gly)
c.1766T>G (p.Val589Gly)
c.1799T>G (p.Val600Gly)
c.1676T>G (p.Val559Gly)
19g.41978191A>GCA406045547ATP1A3c.1805T>C (p.Val602Ala)
c.1766T>C (p.Val589Ala)
c.1799T>C (p.Val600Ala)
c.1676T>C (p.Val559Ala)
19g.41978191A>TCA406045545ATP1A3c.1805T>A (p.Val602Asp)
c.1766T>A (p.Val589Asp)
c.1799T>A (p.Val600Asp)
c.1676T>A (p.Val559Asp)
19g.41978192C>ACA406045551ATP1A3c.1804G>T (p.Val602Phe)
c.1765G>T (p.Val589Phe)
c.1798G>T (p.Val600Phe)
c.1675G>T (p.Val559Phe)
ClinVar dbSNP
19g.41978192C=CA2336724901ATP1A3c.1804G= (p.Val602=)
c.1765G= (p.Val589=)
c.1798G= (p.Val600=)
c.1675G= (p.Val559=)
19g.41978192C>GCA406045553ATP1A3c.1804G>C (p.Val602Leu)
c.1765G>C (p.Val589Leu)
c.1798G>C (p.Val600Leu)
c.1675G>C (p.Val559Leu)
19g.41978192C>TCA406045555ATP1A3c.1804G>A (p.Val602Ile)
c.1765G>A (p.Val589Ile)
c.1798G>A (p.Val600Ile)
c.1675G>A (p.Val559Ile)
gnomAD v4 COSMIC
19g.41978193G>ACA9467572ATP1A3c.1803C>T (p.Ala601=)
c.1764C>T (p.Ala588=)
c.1797C>T (p.Ala599=)
c.1674C>T (p.Ala558=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41978193G>CCA507694937ATP1A3c.1803C>G (p.Ala601=)
c.1764C>G (p.Ala588=)
c.1797C>G (p.Ala599=)
c.1674C>G (p.Ala558=)
gnomAD v4
19g.41978193G=CA2336724902ATP1A3c.1803C= (p.Ala601=)
c.1764C= (p.Ala588=)
c.1797C= (p.Ala599=)
c.1674C= (p.Ala558=)
19g.41978193G>TCA507694939ATP1A3c.1803C>A (p.Ala601=)
c.1764C>A (p.Ala588=)
c.1797C>A (p.Ala599=)
c.1674C>A (p.Ala558=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41978194G>ACA406045558ATP1A3c.1802C>T (p.Ala601Val)
c.1763C>T (p.Ala588Val)
c.1796C>T (p.Ala599Val)
c.1673C>T (p.Ala558Val)
dbSNP gnomAD v2 COSMIC
19g.41978194G>CCA406045560ATP1A3c.1802C>G (p.Ala601Gly)
c.1763C>G (p.Ala588Gly)
c.1796C>G (p.Ala599Gly)
c.1673C>G (p.Ala558Gly)
19g.41978194G=CA2336724903ATP1A3c.1802C= (p.Ala601=)
c.1763C= (p.Ala588=)
c.1796C= (p.Ala599=)
c.1673C= (p.Ala558=)
19g.41978194G>TCA406045562ATP1A3c.1802C>A (p.Ala601Asp)
c.1763C>A (p.Ala588Asp)
c.1796C>A (p.Ala599Asp)
c.1673C>A (p.Ala558Asp)
19g.41978195C>ACA406045565ATP1A3c.1801G>T (p.Ala601Ser)
c.1762G>T (p.Ala588Ser)
c.1795G>T (p.Ala599Ser)
c.1672G>T (p.Ala558Ser)
19g.41978195C>GCA406045566ATP1A3c.1801G>C (p.Ala601Pro)
c.1762G>C (p.Ala588Pro)
c.1795G>C (p.Ala599Pro)
c.1672G>C (p.Ala558Pro)
19g.41978195C>TCA406045568ATP1A3c.1801G>A (p.Ala601Thr)
c.1762G>A (p.Ala588Thr)
c.1795G>A (p.Ala599Thr)
c.1672G>A (p.Ala558Thr)
19g.41978196T>ACA507694945ATP1A3c.1800A>T (p.Ala600=)
c.1761A>T (p.Ala587=)
c.1794A>T (p.Ala598=)
c.1671A>T (p.Ala557=)
19g.41978196T>CCA507694943ATP1A3c.1800A>G (p.Ala600=)
c.1761A>G (p.Ala587=)
c.1794A>G (p.Ala598=)
c.1671A>G (p.Ala557=)
dbSNP
19g.41978196T>GCA507694942ATP1A3c.1800A>C (p.Ala600=)
c.1761A>C (p.Ala587=)
c.1794A>C (p.Ala598=)
c.1671A>C (p.Ala557=)
19g.41978196T=CA2336724904ATP1A3c.1800A= (p.Ala600=)
c.1761A= (p.Ala587=)
c.1794A= (p.Ala598=)
c.1671A= (p.Ala557=)
19g.41978197G>ACA406045570ATP1A3c.1799C>T (p.Ala600Val)
c.1760C>T (p.Ala587Val)
c.1793C>T (p.Ala598Val)
c.1670C>T (p.Ala557Val)
19g.41978197G>CCA406045572ATP1A3c.1799C>G (p.Ala600Gly)
c.1760C>G (p.Ala587Gly)
c.1793C>G (p.Ala598Gly)
c.1670C>G (p.Ala557Gly)
19g.41978197G>TCA406045573ATP1A3c.1799C>A (p.Ala600Glu)
c.1760C>A (p.Ala587Glu)
c.1793C>A (p.Ala598Glu)
c.1670C>A (p.Ala557Glu)
19g.41978198C>ACA406045574ATP1A3c.1798G>T (p.Ala600Ser)
c.1759G>T (p.Ala587Ser)
c.1792G>T (p.Ala598Ser)
c.1669G>T (p.Ala557Ser)
19g.41978198C>GCA406045576ATP1A3c.1798G>C (p.Ala600Pro)
c.1759G>C (p.Ala587Pro)
c.1792G>C (p.Ala598Pro)
c.1669G>C (p.Ala557Pro)
19g.41978198C>TCA406045575ATP1A3c.1798G>A (p.Ala600Thr)
c.1759G>A (p.Ala587Thr)
c.1792G>A (p.Ala598Thr)
c.1669G>A (p.Ala557Thr)
19g.41978199C>ACA507694949ATP1A3c.1797G>T (p.Arg599=)
c.1758G>T (p.Arg586=)
c.1791G>T (p.Arg597=)
c.1668G>T (p.Arg556=)
19g.41978199C=CA2336724905ATP1A3c.1797G= (p.Arg599=)
c.1758G= (p.Arg586=)
c.1791G= (p.Arg597=)
c.1668G= (p.Arg556=)
19g.41978199C>GCA308591767ATP1A3c.1797G>C (p.Arg599=)
c.1758G>C (p.Arg586=)
c.1791G>C (p.Arg597=)
c.1668G>C (p.Arg556=)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41978199C>TCA507694951ATP1A3c.1797G>A (p.Arg599=)
c.1758G>A (p.Arg586=)
c.1791G>A (p.Arg597=)
c.1668G>A (p.Arg556=)
19g.41978200C>ACA406045577ATP1A3c.1796G>T (p.Arg599Leu)
c.1757G>T (p.Arg586Leu)
c.1790G>T (p.Arg597Leu)
c.1667G>T (p.Arg556Leu)
19g.41978200C=CA2336724906ATP1A3c.1796G= (p.Arg599=)
c.1757G= (p.Arg586=)
c.1790G= (p.Arg597=)
c.1667G= (p.Arg556=)
19g.41978200C>GCA406045578ATP1A3c.1796G>C (p.Arg599Pro)
c.1757G>C (p.Arg586Pro)
c.1790G>C (p.Arg597Pro)
c.1667G>C (p.Arg556Pro)
19g.41978200C>TCA406045579ATP1A3c.1796G>A (p.Arg599Gln)
c.1757G>A (p.Arg586Gln)
c.1790G>A (p.Arg597Gln)
c.1667G>A (p.Arg556Gln)
dbSNP
19g.41978201G>ACA406045580ATP1A3c.1795C>T (p.Arg599Trp)
c.1756C>T (p.Arg586Trp)
c.1789C>T (p.Arg597Trp)
c.1666C>T (p.Arg556Trp)
ClinVar dbSNP gnomAD v2
19g.41978201G>CCA406045581ATP1A3c.1795C>G (p.Arg599Gly)
c.1756C>G (p.Arg586Gly)
c.1789C>G (p.Arg597Gly)
c.1666C>G (p.Arg556Gly)
19g.41978201G=CA2336724907ATP1A3c.1795C= (p.Arg599=)
c.1756C= (p.Arg586=)
c.1789C= (p.Arg597=)
c.1666C= (p.Arg556=)
19g.41978201G>TCA507694954ATP1A3c.1795C>A (p.Arg599=)
c.1756C>A (p.Arg586=)
c.1789C>A (p.Arg597=)
c.1666C>A (p.Arg556=)
dbSNP
19g.41978202G>ACA507694955ATP1A3c.1794C>T (p.Pro598=)
c.1755C>T (p.Pro585=)
c.1788C>T (p.Pro596=)
c.1665C>T (p.Pro555=)
ClinVar
19g.41978202G>CCA507694956ATP1A3c.1794C>G (p.Pro598=)
c.1755C>G (p.Pro585=)
c.1788C>G (p.Pro596=)
c.1665C>G (p.Pro555=)
ClinVar gnomAD v4
19g.41978202G>TCA507694958ATP1A3c.1794C>A (p.Pro598=)
c.1755C>A (p.Pro585=)
c.1788C>A (p.Pro596=)
c.1665C>A (p.Pro555=)
19g.41978203G>ACA406045582ATP1A3c.1793C>T (p.Pro598Leu)
c.1754C>T (p.Pro585Leu)
c.1787C>T (p.Pro596Leu)
c.1664C>T (p.Pro555Leu)
19g.41978203G>CCA406045583ATP1A3c.1793C>G (p.Pro598Arg)
c.1754C>G (p.Pro585Arg)
c.1787C>G (p.Pro596Arg)
c.1664C>G (p.Pro555Arg)
19g.41978203G>TCA406045584ATP1A3c.1793C>A (p.Pro598His)
c.1754C>A (p.Pro585His)
c.1787C>A (p.Pro596His)
c.1664C>A (p.Pro555His)
19g.41978204G>ACA406045585ATP1A3c.1792C>T (p.Pro598Ser)
c.1753C>T (p.Pro585Ser)
c.1786C>T (p.Pro596Ser)
c.1663C>T (p.Pro555Ser)
19g.41978204G>CCA406045586ATP1A3c.1792C>G (p.Pro598Ala)
c.1753C>G (p.Pro585Ala)
c.1786C>G (p.Pro596Ala)
c.1663C>G (p.Pro555Ala)
19g.41978204G>TCA406045587ATP1A3c.1792C>A (p.Pro598Thr)
c.1753C>A (p.Pro585Thr)
c.1786C>A (p.Pro596Thr)
c.1663C>A (p.Pro555Thr)
19g.41978205T>ACA507694961ATP1A3c.1791A>T (p.Pro597=)
c.1752A>T (p.Pro584=)
c.1785A>T (p.Pro595=)
c.1662A>T (p.Pro554=)
19g.41978205T>CCA507694962ATP1A3c.1791A>G (p.Pro597=)
c.1752A>G (p.Pro584=)
c.1785A>G (p.Pro595=)
c.1662A>G (p.Pro554=)
19g.41978205T>GCA507694963ATP1A3c.1791A>C (p.Pro597=)
c.1752A>C (p.Pro584=)
c.1785A>C (p.Pro595=)
c.1662A>C (p.Pro554=)
19g.41978206G>ACA406045589ATP1A3c.1790C>T (p.Pro597Leu)
c.1751C>T (p.Pro584Leu)
c.1784C>T (p.Pro595Leu)
c.1661C>T (p.Pro554Leu)
19g.41978206G>CCA406045590ATP1A3c.1790C>G (p.Pro597Arg)
c.1751C>G (p.Pro584Arg)
c.1784C>G (p.Pro595Arg)
c.1661C>G (p.Pro554Arg)
19g.41978206G>TCA406045588ATP1A3c.1790C>A (p.Pro597Gln)
c.1751C>A (p.Pro584Gln)
c.1784C>A (p.Pro595Gln)
c.1661C>A (p.Pro554Gln)
19g.41978207G>ACA406045593ATP1A3c.1789C>T (p.Pro597Ser)
c.1750C>T (p.Pro584Ser)
c.1783C>T (p.Pro595Ser)
c.1660C>T (p.Pro554Ser)
19g.41978207G>CCA406045591ATP1A3c.1789C>G (p.Pro597Ala)
c.1750C>G (p.Pro584Ala)
c.1783C>G (p.Pro595Ala)
c.1660C>G (p.Pro554Ala)
19g.41978207G>TCA406045592ATP1A3c.1789C>A (p.Pro597Thr)
c.1750C>A (p.Pro584Thr)
c.1783C>A (p.Pro595Thr)
c.1660C>A (p.Pro554Thr)
19g.41978208G>ACA507694964ATP1A3c.1788C>T (p.Asp596=)
c.1749C>T (p.Asp583=)
c.1782C>T (p.Asp594=)
c.1659C>T (p.Asp553=)
19g.41978208G>CCA406045594ATP1A3c.1788C>G (p.Asp596Glu)
c.1749C>G (p.Asp583Glu)
c.1782C>G (p.Asp594Glu)
c.1659C>G (p.Asp553Glu)
19g.41978208G>TCA406045595ATP1A3c.1788C>A (p.Asp596Glu)
c.1749C>A (p.Asp583Glu)
c.1782C>A (p.Asp594Glu)
c.1659C>A (p.Asp553Glu)
19g.41978209T>ACA406045596ATP1A3c.1787A>T (p.Asp596Val)
c.1748A>T (p.Asp583Val)
c.1781A>T (p.Asp594Val)
c.1658A>T (p.Asp553Val)
19g.41978209T>CCA308591768ATP1A3c.1787A>G (p.Asp596Gly)
c.1748A>G (p.Asp583Gly)
c.1781A>G (p.Asp594Gly)
c.1658A>G (p.Asp553Gly)
dbSNP
19g.41978209T>GCA406045597ATP1A3c.1787A>C (p.Asp596Ala)
c.1748A>C (p.Asp583Ala)
c.1781A>C (p.Asp594Ala)
c.1658A>C (p.Asp553Ala)
19g.41978209T=CA2336724908ATP1A3c.1787A= (p.Asp596=)
c.1748A= (p.Asp583=)
c.1781A= (p.Asp594=)
c.1658A= (p.Asp553=)
19g.41978210C>ACA406045602ATP1A3c.1786G>T (p.Asp596Tyr)
c.1747G>T (p.Asp583Tyr)
c.1780G>T (p.Asp594Tyr)
c.1657G>T (p.Asp553Tyr)
19g.41978210C>GCA406045599ATP1A3c.1786G>C (p.Asp596His)
c.1747G>C (p.Asp583His)
c.1780G>C (p.Asp594His)
c.1657G>C (p.Asp553His)
19g.41978210C>TCA406045600ATP1A3c.1786G>A (p.Asp596Asn)
c.1747G>A (p.Asp583Asn)
c.1780G>A (p.Asp594Asn)
c.1657G>A (p.Asp553Asn)
ClinVar dbSNP
19g.41978211G>ACA9467573ATP1A3c.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
19g.41978211G>CCA406045604ATP1A3c.1785C>G (p.Ile595Met)
c.1746C>G (p.Ile582Met)
c.1779C>G (p.Ile593Met)
c.1656C>G (p.Ile552Met)
19g.41978211G=CA2336724909ATP1A3c.1785C= (p.Ile595=)
c.1746C= (p.Ile582=)
c.1779C= (p.Ile593=)
c.1656C= (p.Ile552=)
19g.41978211G>TCA507694969ATP1A3c.1785C>A (p.Ile595=)
c.1746C>A (p.Ile582=)
c.1779C>A (p.Ile593=)
c.1656C>A (p.Ile552=)
19g.41978212A>CCA406045607ATP1A3c.1784T>G (p.Ile595Ser)
c.1745T>G (p.Ile582Ser)
c.1778T>G (p.Ile593Ser)
c.1655T>G (p.Ile552Ser)
19g.41978212A>GCA406045608ATP1A3c.1784T>C (p.Ile595Thr)
c.1745T>C (p.Ile582Thr)
c.1778T>C (p.Ile593Thr)
c.1655T>C (p.Ile552Thr)
19g.41978212A>TCA406045610ATP1A3c.1784T>A (p.Ile595Asn)
c.1745T>A (p.Ile582Asn)
c.1778T>A (p.Ile593Asn)
c.1655T>A (p.Ile552Asn)
19g.41978213T>ACA406045613ATP1A3c.1783A>T (p.Ile595Phe)
c.1744A>T (p.Ile582Phe)
c.1777A>T (p.Ile593Phe)
c.1654A>T (p.Ile552Phe)
19g.41978213T>CCA406045616ATP1A3c.1783A>G (p.Ile595Val)
c.1744A>G (p.Ile582Val)
c.1777A>G (p.Ile593Val)
c.1654A>G (p.Ile552Val)
19g.41978213T>GCA406045614ATP1A3c.1783A>C (p.Ile595Leu)
c.1744A>C (p.Ile582Leu)
c.1777A>C (p.Ile593Leu)
c.1654A>C (p.Ile552Leu)
19g.41978214C>ACA406045618ATP1A3c.1782G>T (p.Met594Ile)
c.1743G>T (p.Met581Ile)
c.1776G>T (p.Met592Ile)
c.1653G>T (p.Met551Ile)
19g.41978214C>GCA406045620ATP1A3c.1782G>C (p.Met594Ile)
c.1743G>C (p.Met581Ile)
c.1776G>C (p.Met592Ile)
c.1653G>C (p.Met551Ile)
19g.41978214C>TCA406045622ATP1A3c.1782G>A (p.Met594Ile)
c.1743G>A (p.Met581Ile)
c.1776G>A (p.Met592Ile)
c.1653G>A (p.Met551Ile)
19g.41978215A>CCA406045624ATP1A3c.1781T>G (p.Met594Arg)
c.1742T>G (p.Met581Arg)
c.1775T>G (p.Met592Arg)
c.1652T>G (p.Met551Arg)
19g.41978215A>GCA406045626ATP1A3c.1781T>C (p.Met594Thr)
c.1742T>C (p.Met581Thr)
c.1775T>C (p.Met592Thr)
c.1652T>C (p.Met551Thr)
19g.41978215A>TCA406045628ATP1A3c.1781T>A (p.Met594Lys)
c.1742T>A (p.Met581Lys)
c.1775T>A (p.Met592Lys)
c.1652T>A (p.Met551Lys)
19g.41978216T>ACA406045630ATP1A3c.1780A>T (p.Met594Leu)
c.1741A>T (p.Met581Leu)
c.1774A>T (p.Met592Leu)
c.1651A>T (p.Met551Leu)
19g.41978216T>CCA406045632ATP1A3c.1780A>G (p.Met594Val)
c.1741A>G (p.Met581Val)
c.1774A>G (p.Met592Val)
c.1651A>G (p.Met551Val)
gnomAD v4
19g.41978216T>GCA406045634ATP1A3c.1780A>C (p.Met594Leu)
c.1741A>C (p.Met581Leu)
c.1774A>C (p.Met592Leu)
c.1651A>C (p.Met551Leu)
19g.41978217G>ACA507694972ATP1A3c.1779C>T (p.Ser593=)
c.1740C>T (p.Ser580=)
c.1773C>T (p.Ser591=)
c.1650C>T (p.Ser550=)
ClinVar gnomAD v4
19g.41978217G>CCA308591791ATP1A3c.1779C>G (p.Ser593=)
c.1740C>G (p.Ser580=)
c.1773C>G (p.Ser591=)
c.1650C>G (p.Ser550=)
ClinVar dbSNP
19g.41978217G=CA2336724910ATP1A3c.1779C= (p.Ser593=)
c.1740C= (p.Ser580=)
c.1773C= (p.Ser591=)
c.1650C= (p.Ser550=)
19g.41978217G>TCA507694973ATP1A3c.1779C>A (p.Ser593=)
c.1740C>A (p.Ser580=)
c.1773C>A (p.Ser591=)
c.1650C>A (p.Ser550=)
dbSNP gnomAD v2 gnomAD v4
19g.41978218G>ACA406045636ATP1A3c.1778C>T (p.Ser593Phe)
c.1739C>T (p.Ser580Phe)
c.1772C>T (p.Ser591Phe)
c.1649C>T (p.Ser550Phe)
COSMIC
19g.41978218G>CCA406045637ATP1A3c.1778C>G (p.Ser593Cys)
c.1739C>G (p.Ser580Cys)
c.1772C>G (p.Ser591Cys)
c.1649C>G (p.Ser550Cys)
19g.41978218G>TCA406045640ATP1A3c.1778C>A (p.Ser593Tyr)
c.1739C>A (p.Ser580Tyr)
c.1772C>A (p.Ser591Tyr)
c.1649C>A (p.Ser550Tyr)
19g.41978219A>CCA406045642ATP1A3c.1777T>G (p.Ser593Ala)
c.1738T>G (p.Ser580Ala)
c.1771T>G (p.Ser591Ala)
c.1648T>G (p.Ser550Ala)
19g.41978219A>GCA406045645ATP1A3c.1777T>C (p.Ser593Pro)
c.1738T>C (p.Ser580Pro)
c.1771T>C (p.Ser591Pro)
c.1648T>C (p.Ser550Pro)
COSMIC
19g.41978219A>TCA406045643ATP1A3c.1777T>A (p.Ser593Thr)
c.1738T>A (p.Ser580Thr)
c.1771T>A (p.Ser591Thr)
c.1648T>A (p.Ser550Thr)
19g.41978220C>ACA406045648ATP1A3c.1776G>T (p.Met592Ile)
c.1737G>T (p.Met579Ile)
c.1770G>T (p.Met590Ile)
c.1647G>T (p.Met549Ile)
19g.41978220C>GCA406045649ATP1A3c.1776G>C (p.Met592Ile)
c.1737G>C (p.Met579Ile)
c.1770G>C (p.Met590Ile)
c.1647G>C (p.Met549Ile)
19g.41978220C>TCA406045652ATP1A3c.1776G>A (p.Met592Ile)
c.1737G>A (p.Met579Ile)
c.1770G>A (p.Met590Ile)
c.1647G>A (p.Met549Ile)
19g.41978221A>CCA406045654ATP1A3c.1775T>G (p.Met592Arg)
c.1736T>G (p.Met579Arg)
c.1769T>G (p.Met590Arg)
c.1646T>G (p.Met549Arg)
19g.41978221A>GCA406045656ATP1A3c.1775T>C (p.Met592Thr)
c.1736T>C (p.Met579Thr)
c.1769T>C (p.Met590Thr)
c.1646T>C (p.Met549Thr)
19g.41978221A>TCA406045657ATP1A3c.1775T>A (p.Met592Lys)
c.1736T>A (p.Met579Lys)
c.1769T>A (p.Met590Lys)
c.1646T>A (p.Met549Lys)
19g.41978222T>ACA406045660ATP1A3c.1774A>T (p.Met592Leu)
c.1735A>T (p.Met579Leu)
c.1768A>T (p.Met590Leu)
c.1645A>T (p.Met549Leu)
19g.41978222T>CCA406045662ATP1A3c.1774A>G (p.Met592Val)
c.1735A>G (p.Met579Val)
c.1768A>G (p.Met590Val)
c.1645A>G (p.Met549Val)
gnomAD v4
19g.41978222T>GCA9467574ATP1A3c.1774A>C (p.Met592Leu)
c.1735A>C (p.Met579Leu)
c.1768A>C (p.Met590Leu)
c.1645A>C (p.Met549Leu)
dbSNP ExAC gnomAD v2
19g.41978222T=CA2336724911ATP1A3c.1774A= (p.Met592=)
c.1735A= (p.Met579=)
c.1768A= (p.Met590=)
c.1645A= (p.Met549=)
19g.41978223G>ACA507694976ATP1A3c.1773C>T (p.Leu591=)
c.1734C>T (p.Leu578=)
c.1767C>T (p.Leu589=)
c.1644C>T (p.Leu548=)
19g.41978223G>CCA507694977ATP1A3c.1773C>G (p.Leu591=)
c.1734C>G (p.Leu578=)
c.1767C>G (p.Leu589=)
c.1644C>G (p.Leu548=)
19g.41978223G>TCA507694978ATP1A3c.1773C>A (p.Leu591=)
c.1734C>A (p.Leu578=)
c.1767C>A (p.Leu589=)
c.1644C>A (p.Leu548=)
19g.41978224A>CCA406045663ATP1A3c.1772T>G (p.Leu591Arg)
c.1733T>G (p.Leu578Arg)
c.1766T>G (p.Leu589Arg)
c.1643T>G (p.Leu548Arg)
19g.41978224A>GCA406045665ATP1A3c.1772T>C (p.Leu591Pro)
c.1733T>C (p.Leu578Pro)
c.1766T>C (p.Leu589Pro)
c.1643T>C (p.Leu548Pro)
19g.41978224A>TCA406045667ATP1A3c.1772T>A (p.Leu591His)
c.1733T>A (p.Leu578His)
c.1766T>A (p.Leu589His)
c.1643T>A (p.Leu548His)
19g.41978225G>ACA406045673ATP1A3c.1771C>T (p.Leu591Phe)
c.1732C>T (p.Leu578Phe)
c.1765C>T (p.Leu589Phe)
c.1642C>T (p.Leu548Phe)
19g.41978225G>CCA406045671ATP1A3c.1771C>G (p.Leu591Val)
c.1732C>G (p.Leu578Val)
c.1765C>G (p.Leu589Val)
c.1642C>G (p.Leu548Val)
19g.41978225G>TCA406045670ATP1A3c.1771C>A (p.Leu591Ile)
c.1732C>A (p.Leu578Ile)
c.1765C>A (p.Leu589Ile)
c.1642C>A (p.Leu548Ile)
19g.41978226G>ACA507694980ATP1A3c.1770C>T (p.Gly590=)
c.1731C>T (p.Gly577=)
c.1764C>T (p.Gly588=)
c.1641C>T (p.Gly547=)
19g.41978226G>CCA507694981ATP1A3c.1770C>G (p.Gly590=)
c.1731C>G (p.Gly577=)
c.1764C>G (p.Gly588=)
c.1641C>G (p.Gly547=)
dbSNP
19g.41978226G=CA2336724912ATP1A3c.1770C= (p.Gly590=)
c.1731C= (p.Gly577=)
c.1764C= (p.Gly588=)
c.1641C= (p.Gly547=)
19g.41978226G>TCA507694982ATP1A3c.1770C>A (p.Gly590=)
c.1731C>A (p.Gly577=)
c.1764C>A (p.Gly588=)
c.1641C>A (p.Gly547=)
dbSNP
19g.41978227C>ACA406045676ATP1A3c.1769G>T (p.Gly590Val)
c.1730G>T (p.Gly577Val)
c.1763G>T (p.Gly588Val)
c.1640G>T (p.Gly547Val)
19g.41978227C>GCA406045677ATP1A3c.1769G>C (p.Gly590Ala)
c.1730G>C (p.Gly577Ala)
c.1763G>C (p.Gly588Ala)
c.1640G>C (p.Gly547Ala)
19g.41978227C>TCA406045679ATP1A3c.1769G>A (p.Gly590Asp)
c.1730G>A (p.Gly577Asp)
c.1763G>A (p.Gly588Asp)
c.1640G>A (p.Gly547Asp)
19g.41978228C>ACA406045682ATP1A3c.1768G>T (p.Gly590Cys)
c.1729G>T (p.Gly577Cys)
c.1762G>T (p.Gly588Cys)
c.1639G>T (p.Gly547Cys)
19g.41978228C>GCA406045683ATP1A3c.1768G>C (p.Gly590Arg)
c.1729G>C (p.Gly577Arg)
c.1762G>C (p.Gly588Arg)
c.1639G>C (p.Gly547Arg)
19g.41978228C>TCA406045686ATP1A3c.1768G>A (p.Gly590Ser)
c.1729G>A (p.Gly577Ser)
c.1762G>A (p.Gly588Ser)
c.1639G>A (p.Gly547Ser)
19g.41978229C>ACA507694983ATP1A3c.1767G>T (p.Val589=)
c.1728G>T (p.Val576=)
c.1761G>T (p.Val587=)
c.1638G>T (p.Val546=)
19g.41978229C=CA2336724913ATP1A3c.1767G= (p.Val589=)
c.1728G= (p.Val576=)
c.1761G= (p.Val587=)
c.1638G= (p.Val546=)
19g.41978229C>GCA507694987ATP1A3c.1767G>C (p.Val589=)
c.1728G>C (p.Val576=)
c.1761G>C (p.Val587=)
c.1638G>C (p.Val546=)
19g.41978229C>TCA308591802ATP1A3c.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
19g.41978230A>CCA406045688ATP1A3c.1766T>G (p.Val589Gly)
c.1727T>G (p.Val576Gly)
c.1760T>G (p.Val587Gly)
c.1637T>G (p.Val546Gly)
19g.41978230A>GCA406045690ATP1A3c.1766T>C (p.Val589Ala)
c.1727T>C (p.Val576Ala)
c.1760T>C (p.Val587Ala)
c.1637T>C (p.Val546Ala)
19g.41978230A>TCA406045692ATP1A3c.1766T>A (p.Val589Glu)
c.1727T>A (p.Val576Glu)
c.1760T>A (p.Val587Glu)
c.1637T>A (p.Val546Glu)
19g.41978231C>ACA406045694ATP1A3c.1765G>T (p.Val589Leu)
c.1726G>T (p.Val576Leu)
c.1759G>T (p.Val587Leu)
c.1636G>T (p.Val546Leu)
19g.41978231C=CA2336724914ATP1A3c.1765G= (p.Val589=)
c.1726G= (p.Val576=)
c.1759G= (p.Val587=)
c.1636G= (p.Val546=)
19g.41978231C>GCA406045696ATP1A3c.1765G>C (p.Val589Leu)
c.1726G>C (p.Val576Leu)
c.1759G>C (p.Val587Leu)
c.1636G>C (p.Val546Leu)
19g.41978231C>TCA9467575ATP1A3c.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
19g.41978232A>CCA406045699ATP1A3c.1764T>G (p.Phe588Leu)
c.1725T>G (p.Phe575Leu)
c.1758T>G (p.Phe586Leu)
c.1635T>G (p.Phe545Leu)
19g.41978232A>GCA507694988ATP1A3c.1764T>C (p.Phe588=)
c.1725T>C (p.Phe575=)
c.1758T>C (p.Phe586=)
c.1635T>C (p.Phe545=)
19g.41978232A>TCA406045701ATP1A3c.1764T>A (p.Phe588Leu)
c.1725T>A (p.Phe575Leu)
c.1758T>A (p.Phe586Leu)
c.1635T>A (p.Phe545Leu)
19g.41978233A>CCA406045703ATP1A3c.1763T>G (p.Phe588Cys)
c.1724T>G (p.Phe575Cys)
c.1757T>G (p.Phe586Cys)
c.1634T>G (p.Phe545Cys)
19g.41978233A>GCA406045707ATP1A3c.1763T>C (p.Phe588Ser)
c.1724T>C (p.Phe575Ser)
c.1757T>C (p.Phe586Ser)
c.1634T>C (p.Phe545Ser)
19g.41978233A>TCA406045705ATP1A3c.1763T>A (p.Phe588Tyr)
c.1724T>A (p.Phe575Tyr)
c.1757T>A (p.Phe586Tyr)
c.1634T>A (p.Phe545Tyr)
19g.41978234A>CCA406045709ATP1A3c.1762T>G (p.Phe588Val)
c.1723T>G (p.Phe575Val)
c.1756T>G (p.Phe586Val)
c.1633T>G (p.Phe545Val)
19g.41978234A>GCA406045711ATP1A3c.1762T>C (p.Phe588Leu)
c.1723T>C (p.Phe575Leu)
c.1756T>C (p.Phe586Leu)
c.1633T>C (p.Phe545Leu)
19g.41978234A>TCA406045713ATP1A3c.1762T>A (p.Phe588Ile)
c.1723T>A (p.Phe575Ile)
c.1756T>A (p.Phe586Ile)
c.1633T>A (p.Phe545Ile)
19g.41978235G>ACA507694991ATP1A3c.1761C>T (p.Cys587=)
c.1722C>T (p.Cys574=)
c.1755C>T (p.Cys585=)
c.1632C>T (p.Cys544=)
19g.41978235G>CCA406045715ATP1A3c.1761C>G (p.Cys587Trp)
c.1722C>G (p.Cys574Trp)
c.1755C>G (p.Cys585Trp)
c.1632C>G (p.Cys544Trp)
19g.41978235G>TCA406045717ATP1A3c.1761C>A (p.Cys587Ter)
c.1722C>A (p.Cys574Ter)
c.1755C>A (p.Cys585Ter)
c.1632C>A (p.Cys544Ter)
19g.41978236C>ACA406045719ATP1A3c.1760G>T (p.Cys587Phe)
c.1721G>T (p.Cys574Phe)
c.1754G>T (p.Cys585Phe)
c.1631G>T (p.Cys544Phe)
19g.41978236C=CA2336724915ATP1A3c.1760G= (p.Cys587=)
c.1721G= (p.Cys574=)
c.1754G= (p.Cys585=)
c.1631G= (p.Cys544=)
19g.41978236C>GCA406045721ATP1A3c.1760G>C (p.Cys587Ser)
c.1721G>C (p.Cys574Ser)
c.1754G>C (p.Cys585Ser)
c.1631G>C (p.Cys544Ser)
19g.41978236C>TCA406045723ATP1A3c.1760G>A (p.Cys587Tyr)
c.1721G>A (p.Cys574Tyr)
c.1754G>A (p.Cys585Tyr)
c.1631G>A (p.Cys544Tyr)
ClinVar dbSNP
19g.41978237A>CCA406045725ATP1A3c.1759T>G (p.Cys587Gly)
c.1720T>G (p.Cys574Gly)
c.1753T>G (p.Cys585Gly)
c.1630T>G (p.Cys544Gly)
19g.41978237A>GCA406045727ATP1A3c.1759T>C (p.Cys587Arg)
c.1720T>C (p.Cys574Arg)
c.1753T>C (p.Cys585Arg)
c.1630T>C (p.Cys544Arg)
19g.41978237A>TCA406045729ATP1A3c.1759T>A (p.Cys587Ser)
c.1720T>A (p.Cys574Ser)
c.1753T>A (p.Cys585Ser)
c.1630T>A (p.Cys544Ser)
19g.41978238G>ACA507694994ATP1A3c.1758C>T (p.Leu586=)
c.1719C>T (p.Leu573=)
c.1752C>T (p.Leu584=)
c.1629C>T (p.Leu543=)
19g.41978238G>CCA507694995ATP1A3c.1758C>G (p.Leu586=)
c.1719C>G (p.Leu573=)
c.1752C>G (p.Leu584=)
c.1629C>G (p.Leu543=)
19g.41978238G=CA2336724916ATP1A3c.1758C= (p.Leu586=)
c.1719C= (p.Leu573=)
c.1752C= (p.Leu584=)
c.1629C= (p.Leu543=)
19g.41978238G>TCA10652045ATP1A3c.1758C>A (p.Leu586=)
c.1719C>A (p.Leu573=)
c.1752C>A (p.Leu584=)
c.1629C>A (p.Leu543=)
ClinVar dbSNP gnomAD v4
19g.41978239A>CCA406045737ATP1A3c.1757T>G (p.Leu586Arg)
c.1718T>G (p.Leu573Arg)
c.1751T>G (p.Leu584Arg)
c.1628T>G (p.Leu543Arg)
19g.41978239A>GCA406045733ATP1A3c.1757T>C (p.Leu586Pro)
c.1718T>C (p.Leu573Pro)
c.1751T>C (p.Leu584Pro)
c.1628T>C (p.Leu543Pro)
19g.41978239A>TCA406045735ATP1A3c.1757T>A (p.Leu586His)
c.1718T>A (p.Leu573His)
c.1751T>A (p.Leu584His)
c.1628T>A (p.Leu543His)
19g.41978240G>ACA406045739ATP1A3c.1756C>T (p.Leu586Phe)
c.1717C>T (p.Leu573Phe)
c.1750C>T (p.Leu584Phe)
c.1627C>T (p.Leu543Phe)
dbSNP gnomAD v2 gnomAD v4
19g.41978240G>CCA406045740ATP1A3c.1756C>G (p.Leu586Val)
c.1717C>G (p.Leu573Val)
c.1750C>G (p.Leu584Val)
c.1627C>G (p.Leu543Val)
19g.41978240G=CA2336724917ATP1A3c.1756C= (p.Leu586=)
c.1717C= (p.Leu573=)
c.1750C= (p.Leu584=)
c.1627C= (p.Leu543=)
19g.41978240G>TCA406045743ATP1A3c.1756C>A (p.Leu586Ile)
c.1717C>A (p.Leu573Ile)
c.1750C>A (p.Leu584Ile)
c.1627C>A (p.Leu543Ile)
19g.41978241G>ACA9467576ATP1A3c.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
19g.41978241G>CCA406045745ATP1A3c.1755C>G (p.Asn585Lys)
c.1716C>G (p.Asn572Lys)
c.1749C>G (p.Asn583Lys)
c.1626C>G (p.Asn542Lys)
ClinVar dbSNP
19g.41978241G=CA2336724918ATP1A3c.1755C= (p.Asn585=)
c.1716C= (p.Asn572=)
c.1749C= (p.Asn583=)
c.1626C= (p.Asn542=)
19g.41978241G>TCA406045747ATP1A3c.1755C>A (p.Asn585Lys)
c.1716C>A (p.Asn572Lys)
c.1749C>A (p.Asn583Lys)
c.1626C>A (p.Asn542Lys)
dbSNP
19g.41978242T>ACA406045749ATP1A3c.1754A>T (p.Asn585Ile)
c.1715A>T (p.Asn572Ile)
c.1748A>T (p.Asn583Ile)
c.1625A>T (p.Asn542Ile)
19g.41978242T>CCA406045751ATP1A3c.1754A>G (p.Asn585Ser)
c.1715A>G (p.Asn572Ser)
c.1748A>G (p.Asn583Ser)
c.1625A>G (p.Asn542Ser)
ClinVar dbSNP gnomAD v4
19g.41978242T>GCA406045753ATP1A3c.1754A>C (p.Asn585Thr)
c.1715A>C (p.Asn572Thr)
c.1748A>C (p.Asn583Thr)
c.1625A>C (p.Asn542Thr)
19g.41978243T>ACA406045755ATP1A3c.1753A>T (p.Asn585Tyr)
c.1714A>T (p.Asn572Tyr)
c.1747A>T (p.Asn583Tyr)
c.1624A>T (p.Asn542Tyr)
19g.41978243T>CCA9467577ATP1A3c.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
19g.41978243T>GCA406045758ATP1A3c.1753A>C (p.Asn585His)
c.1714A>C (p.Asn572His)
c.1747A>C (p.Asn583His)
c.1624A>C (p.Asn542His)
19g.41978243T=CA2336724919ATP1A3c.1753A= (p.Asn585=)
c.1714A= (p.Asn572=)
c.1747A= (p.Asn583=)
c.1624A= (p.Asn542=)
19g.41978244G>ACA507694996ATP1A3c.1752C>T (p.Asp584=)
c.1713C>T (p.Asp571=)
c.1746C>T (p.Asp582=)
c.1623C>T (p.Asp541=)
19g.41978244G>CCA406045761ATP1A3c.1752C>G (p.Asp584Glu)
c.1713C>G (p.Asp571Glu)
c.1746C>G (p.Asp582Glu)
c.1623C>G (p.Asp541Glu)
gnomAD v4
19g.41978244G=CA2336724920ATP1A3c.1752C= (p.Asp584=)
c.1713C= (p.Asp571=)
c.1746C= (p.Asp582=)
c.1623C= (p.Asp541=)
19g.41978244G>TCA406045759ATP1A3c.1752C>A (p.Asp584Glu)
c.1713C>A (p.Asp571Glu)
c.1746C>A (p.Asp582Glu)
c.1623C>A (p.Asp541Glu)
ClinVar dbSNP gnomAD v4
19g.41978245T>ACA406045763ATP1A3c.1751A>T (p.Asp584Val)
c.1712A>T (p.Asp571Val)
c.1745A>T (p.Asp582Val)
c.1622A>T (p.Asp541Val)
19g.41978245T>CCA406045766ATP1A3c.1751A>G (p.Asp584Gly)
c.1712A>G (p.Asp571Gly)
c.1745A>G (p.Asp582Gly)
c.1622A>G (p.Asp541Gly)
19g.41978245T>GCA406045764ATP1A3c.1751A>C (p.Asp584Ala)
c.1712A>C (p.Asp571Ala)
c.1745A>C (p.Asp582Ala)
c.1622A>C (p.Asp541Ala)
19g.41978246C>ACA406045768ATP1A3c.1750G>T (p.Asp584Tyr)
c.1711G>T (p.Asp571Tyr)
c.1744G>T (p.Asp582Tyr)
c.1621G>T (p.Asp541Tyr)
COSMIC
19g.41978246C=CA2336724921ATP1A3c.1750G= (p.Asp584=)
c.1711G= (p.Asp571=)
c.1744G= (p.Asp582=)
c.1621G= (p.Asp541=)
19g.41978246C>GCA406045770ATP1A3c.1750G>C (p.Asp584His)
c.1711G>C (p.Asp571His)
c.1744G>C (p.Asp582His)
c.1621G>C (p.Asp541His)
19g.41978246C>TCA9467578ATP1A3c.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
19g.41978247C>ACA507694998ATP1A3c.1749G>T (p.Thr583=)
c.1710G>T (p.Thr570=)
c.1743G>T (p.Thr581=)
c.1620G>T (p.Thr540=)
19g.41978247C=CA2336724922ATP1A3c.1749G= (p.Thr583=)
c.1710G= (p.Thr570=)
c.1743G= (p.Thr581=)
c.1620G= (p.Thr540=)
19g.41978247C>GCA507694997ATP1A3c.1749G>C (p.Thr583=)
c.1710G>C (p.Thr570=)
c.1743G>C (p.Thr581=)
c.1620G>C (p.Thr540=)
dbSNP gnomAD v2 gnomAD v4
19g.41978247C>TCA9467579ATP1A3c.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
19g.41978248G>ACA406045774ATP1A3c.1748C>T (p.Thr583Met)
c.1709C>T (p.Thr570Met)
c.1742C>T (p.Thr581Met)
c.1619C>T (p.Thr540Met)
ClinVar dbSNP
19g.41978248G>CCA406045775ATP1A3c.1748C>G (p.Thr583Arg)
c.1709C>G (p.Thr570Arg)
c.1742C>G (p.Thr581Arg)
c.1619C>G (p.Thr540Arg)
19g.41978248G=CA2336724923ATP1A3c.1748C= (p.Thr583=)
c.1709C= (p.Thr570=)
c.1742C= (p.Thr581=)
c.1619C= (p.Thr540=)
19g.41978248G>TCA406045776ATP1A3c.1748C>A (p.Thr583Lys)
c.1709C>A (p.Thr570Lys)
c.1742C>A (p.Thr581Lys)
c.1619C>A (p.Thr540Lys)
19g.41978249T>ACA406045779ATP1A3c.1747A>T (p.Thr583Ser)
c.1708A>T (p.Thr570Ser)
c.1741A>T (p.Thr581Ser)
c.1618A>T (p.Thr540Ser)
19g.41978249T>CCA406045780ATP1A3c.1747A>G (p.Thr583Ala)
c.1708A>G (p.Thr570Ala)
c.1741A>G (p.Thr581Ala)
c.1618A>G (p.Thr540Ala)
19g.41978249T>GCA406045782ATP1A3c.1747A>C (p.Thr583Pro)
c.1708A>C (p.Thr570Pro)
c.1741A>C (p.Thr581Pro)
c.1618A>C (p.Thr540Pro)
19g.41978250G>ACA507695002ATP1A3c.1746C>T (p.Thr582=)
c.1707C>T (p.Thr569=)
c.1740C>T (p.Thr580=)
c.1617C>T (p.Thr539=)
19g.41978250G>CCA507695003ATP1A3c.1746C>G (p.Thr582=)
c.1707C>G (p.Thr569=)
c.1740C>G (p.Thr580=)
c.1617C>G (p.Thr539=)
19g.41978250G=CA2336724924ATP1A3c.1746C= (p.Thr582=)
c.1707C= (p.Thr569=)
c.1740C= (p.Thr580=)
c.1617C= (p.Thr539=)
19g.41978250G>TCA9467580ATP1A3c.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
19g.41978251G>ACA406045788ATP1A3c.1745C>T (p.Thr582Ile)
c.1706C>T (p.Thr569Ile)
c.1739C>T (p.Thr580Ile)
c.1616C>T (p.Thr539Ile)
dbSNP gnomAD v3 gnomAD v4
19g.41978251G>CCA406045787ATP1A3c.1745C>G (p.Thr582Ser)
c.1706C>G (p.Thr569Ser)
c.1739C>G (p.Thr580Ser)
c.1616C>G (p.Thr539Ser)
19g.41978251G=CA2336724925ATP1A3c.1745C= (p.Thr582=)
c.1706C= (p.Thr569=)
c.1739C= (p.Thr580=)
c.1616C= (p.Thr539=)
19g.41978251G>TCA406045784ATP1A3c.1745C>A (p.Thr582Asn)
c.1706C>A (p.Thr569Asn)
c.1739C>A (p.Thr580Asn)
c.1616C>A (p.Thr539Asn)
19g.41978252T>ACA406045790ATP1A3c.1744A>T (p.Thr582Ser)
c.1705A>T (p.Thr569Ser)
c.1738A>T (p.Thr580Ser)
c.1615A>T (p.Thr539Ser)
19g.41978252T>CCA406045791ATP1A3c.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
19g.41978252T>GCA406045792ATP1A3c.1744A>C (p.Thr582Pro)
c.1705A>C (p.Thr569Pro)
c.1738A>C (p.Thr580Pro)
c.1615A>C (p.Thr539Pro)
19g.41978252T=CA2336724926ATP1A3c.1744A= (p.Thr582=)
c.1705A= (p.Thr569=)
c.1738A= (p.Thr580=)
c.1615A= (p.Thr539=)
19g.41978253G>ACA507695005ATP1A3c.1743C>T (p.Phe581=)
c.1704C>T (p.Phe568=)
c.1737C>T (p.Phe579=)
c.1614C>T (p.Phe538=)
19g.41978253G>CCA406045794ATP1A3c.1743C>G (p.Phe581Leu)
c.1704C>G (p.Phe568Leu)
c.1737C>G (p.Phe579Leu)
c.1614C>G (p.Phe538Leu)
19g.41978253G>TCA406045795ATP1A3c.1743C>A (p.Phe581Leu)
c.1704C>A (p.Phe568Leu)
c.1737C>A (p.Phe579Leu)
c.1614C>A (p.Phe538Leu)
19g.41978254A>CCA406045797ATP1A3c.1742T>G (p.Phe581Cys)
c.1703T>G (p.Phe568Cys)
c.1736T>G (p.Phe579Cys)
c.1613T>G (p.Phe538Cys)
19g.41978254A>GCA406045799ATP1A3c.1742T>C (p.Phe581Ser)
c.1703T>C (p.Phe568Ser)
c.1736T>C (p.Phe579Ser)
c.1613T>C (p.Phe538Ser)
19g.41978254A>TCA406045801ATP1A3c.1742T>A (p.Phe581Tyr)
c.1703T>A (p.Phe568Tyr)
c.1736T>A (p.Phe579Tyr)
c.1613T>A (p.Phe538Tyr)
19g.41978255A>CCA406045803ATP1A3c.1741T>G (p.Phe581Val)
c.1702T>G (p.Phe568Val)
c.1735T>G (p.Phe579Val)
c.1612T>G (p.Phe538Val)
19g.41978255A>GCA406045804ATP1A3c.1741T>C (p.Phe581Leu)
c.1702T>C (p.Phe568Leu)
c.1735T>C (p.Phe579Leu)
c.1612T>C (p.Phe538Leu)
19g.41978255A>TCA406045806ATP1A3c.1741T>A (p.Phe581Ile)
c.1702T>A (p.Phe568Ile)
c.1735T>A (p.Phe579Ile)
c.1612T>A (p.Phe538Ile)
19g.41978256G>ACA507695007ATP1A3c.1740C>T (p.Asn580=)
c.1701C>T (p.Asn567=)
c.1734C>T (p.Asn578=)
c.1611C>T (p.Asn537=)
gnomAD v4
19g.41978256G>CCA406045808ATP1A3c.1740C>G (p.Asn580Lys)
c.1701C>G (p.Asn567Lys)
c.1734C>G (p.Asn578Lys)
c.1611C>G (p.Asn537Lys)
19g.41978256G>TCA406045809ATP1A3c.1740C>A (p.Asn580Lys)
c.1701C>A (p.Asn567Lys)
c.1734C>A (p.Asn578Lys)
c.1611C>A (p.Asn537Lys)
19g.41978257T>ACA406045814ATP1A3c.1739A>T (p.Asn580Ile)
c.1700A>T (p.Asn567Ile)
c.1733A>T (p.Asn578Ile)
c.1610A>T (p.Asn537Ile)
19g.41978257T>CCA406045816ATP1A3c.1739A>G (p.Asn580Ser)
c.1700A>G (p.Asn567Ser)
c.1733A>G (p.Asn578Ser)
c.1610A>G (p.Asn537Ser)
19g.41978257T>GCA406045812ATP1A3c.1739A>C (p.Asn580Thr)
c.1700A>C (p.Asn567Thr)
c.1733A>C (p.Asn578Thr)
c.1610A>C (p.Asn537Thr)
19g.41978258T>ACA406045818ATP1A3c.1738A>T (p.Asn580Tyr)
c.1699A>T (p.Asn567Tyr)
c.1732A>T (p.Asn578Tyr)
c.1609A>T (p.Asn537Tyr)
19g.41978258T>CCA406045822ATP1A3c.1738A>G (p.Asn580Asp)
c.1699A>G (p.Asn567Asp)
c.1732A>G (p.Asn578Asp)
c.1609A>G (p.Asn537Asp)
19g.41978258T>GCA406045820ATP1A3c.1738A>C (p.Asn580His)
c.1699A>C (p.Asn567His)
c.1732A>C (p.Asn578His)
c.1609A>C (p.Asn537His)
19g.41978259C>ACA507695008ATP1A3c.1737G>T (p.Val579=)
c.1698G>T (p.Val566=)
c.1731G>T (p.Val577=)
c.1608G>T (p.Val536=)
19g.41978259C=CA2336724927ATP1A3c.1737G= (p.Val579=)
c.1698G= (p.Val566=)
c.1731G= (p.Val577=)
c.1608G= (p.Val536=)
19g.41978259C>GCA507695009ATP1A3c.1737G>C (p.Val579=)
c.1698G>C (p.Val566=)
c.1731G>C (p.Val577=)
c.1608G>C (p.Val536=)
19g.41978259C>TCA507695010ATP1A3c.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
19g.41978259_41978260insCCCGCGCAATAGGTATCGACAGCCTCGCGGTAAGCACGCACGACGGTATCGACATACTCGGGGCCACGCGCACGGCCCTCGATCTTGAGGCA2814442103ATP1A3c.1736_1737insCCTCAAGATCGAGGGCCGTGCGCGTGGCCCCGAGTATGTCGATACCGTCGTGCGTGCTTACCGCGAGGCTGTCGATACCTATTGCGCGGG (p.Val579_Asn580insLeuLysIleGluGlyArgAlaArgGlyProGluTyrValAspThrValValArgAlaTyrArgGluAlaValAspThrTyrCysAlaGly)
c.1697_1698insCCTCAAGATCGAGGGCCGTGCGCGTGGCCCCGAGTATGTCGATACCGTCGTGCGTGCTTACCGCGAGGCTGTCGATACCTATTGCGCGGG (p.Val566_Asn567insLeuLysIleGluGlyArgAlaArgGlyProGluTyrValAspThrValValArgAlaTyrArgGluAlaValAspThrTyrCysAlaGly)
c.1730_1731insCCTCAAGATCGAGGGCCGTGCGCGTGGCCCCGAGTATGTCGATACCGTCGTGCGTGCTTACCGCGAGGCTGTCGATACCTATTGCGCGGG (p.Val577_Asn578insLeuLysIleGluGlyArgAlaArgGlyProGluTyrValAspThrValValArgAlaTyrArgGluAlaValAspThrTyrCysAlaGly)
c.1607_1608insCCTCAAGATCGAGGGCCGTGCGCGTGGCCCCGAGTATGTCGATACCGTCGTGCGTGCTTACCGCGAGGCTGTCGATACCTATTGCGCGGG (p.Val536_Asn537insLeuLysIleGluGlyArgAlaArgGlyProGluTyrValAspThrValValArgAlaTyrArgGluAlaValAspThrTyrCysAlaGly)
19g.41978260A>CCA406045824ATP1A3c.1736T>G (p.Val579Gly)
c.1697T>G (p.Val566Gly)
c.1730T>G (p.Val577Gly)
c.1607T>G (p.Val536Gly)
19g.41978260A>GCA406045828ATP1A3c.1736T>C (p.Val579Ala)
c.1697T>C (p.Val566Ala)
c.1730T>C (p.Val577Ala)
c.1607T>C (p.Val536Ala)
gnomAD v4
19g.41978260A>TCA406045826ATP1A3c.1736T>A (p.Val579Glu)
c.1697T>A (p.Val566Glu)
c.1730T>A (p.Val577Glu)
c.1607T>A (p.Val536Glu)
19g.41978261C>ACA406045830ATP1A3c.1735G>T (p.Val579Leu)
c.1696G>T (p.Val566Leu)
c.1729G>T (p.Val577Leu)
c.1606G>T (p.Val536Leu)
19g.41978261C=CA2336724928ATP1A3c.1735G= (p.Val579=)
c.1696G= (p.Val566=)
c.1729G= (p.Val577=)
c.1606G= (p.Val536=)
19g.41978261C>GCA406045834ATP1A3c.1735G>C (p.Val579Leu)
c.1696G>C (p.Val566Leu)
c.1729G>C (p.Val577Leu)
c.1606G>C (p.Val536Leu)
dbSNP
19g.41978261C>TCA406045832ATP1A3c.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
19g.41978262G>ACA9467581ATP1A3c.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
19g.41978262G>CCA406045839ATP1A3c.1734C>G (p.Asp578Glu)
c.1695C>G (p.Asp565Glu)
c.1728C>G (p.Asp576Glu)
c.1605C>G (p.Asp535Glu)
19g.41978262G=CA2336724929ATP1A3c.1734C= (p.Asp578=)
c.1695C= (p.Asp565=)
c.1728C= (p.Asp576=)
c.1605C= (p.Asp535=)
19g.41978262G>TCA406045837ATP1A3c.1734C>A (p.Asp578Glu)
c.1695C>A (p.Asp565Glu)
c.1728C>A (p.Asp576Glu)
c.1605C>A (p.Asp535Glu)
gnomAD v4
19g.41978263T>ACA406045841ATP1A3c.1733A>T (p.Asp578Val)
c.1694A>T (p.Asp565Val)
c.1727A>T (p.Asp576Val)
c.1604A>T (p.Asp535Val)
19g.41978263T>CCA406045843ATP1A3c.1733A>G (p.Asp578Gly)
c.1694A>G (p.Asp565Gly)
c.1727A>G (p.Asp576Gly)
c.1604A>G (p.Asp535Gly)
19g.41978263T>GCA406045845ATP1A3c.1733A>C (p.Asp578Ala)
c.1694A>C (p.Asp565Ala)
c.1727A>C (p.Asp576Ala)
c.1604A>C (p.Asp535Ala)
19g.41978264C>ACA406045847ATP1A3c.1732G>T (p.Asp578Tyr)
c.1693G>T (p.Asp565Tyr)
c.1726G>T (p.Asp576Tyr)
c.1603G>T (p.Asp535Tyr)
19g.41978264C>GCA406045849ATP1A3c.1732G>C (p.Asp578His)
c.1693G>C (p.Asp565His)
c.1726G>C (p.Asp576His)
c.1603G>C (p.Asp535His)
19g.41978264C>TCA406045850ATP1A3c.1732G>A (p.Asp578Asn)
c.1693G>A (p.Asp565Asn)
c.1726G>A (p.Asp576Asn)
c.1603G>A (p.Asp535Asn)
19g.41978265A>CCA406045853ATP1A3c.1731T>G (p.Asp577Glu)
c.1692T>G (p.Asp564Glu)
c.1725T>G (p.Asp575Glu)
c.1602T>G (p.Asp534Glu)
19g.41978265A>GCA507695018ATP1A3c.1731T>C (p.Asp577=)
c.1692T>C (p.Asp564=)
c.1725T>C (p.Asp575=)
c.1602T>C (p.Asp534=)
19g.41978265A>TCA406045855ATP1A3c.1731T>A (p.Asp577Glu)
c.1692T>A (p.Asp564Glu)
c.1725T>A (p.Asp575Glu)
c.1602T>A (p.Asp534Glu)
19g.41978266T>ACA406045857ATP1A3c.1730A>T (p.Asp577Val)
c.1691A>T (p.Asp564Val)
c.1724A>T (p.Asp575Val)
c.1601A>T (p.Asp534Val)
19g.41978266T>CCA406045859ATP1A3c.1730A>G (p.Asp577Gly)
c.1691A>G (p.Asp564Gly)
c.1724A>G (p.Asp575Gly)
c.1601A>G (p.Asp534Gly)
19g.41978266T>GCA406045861ATP1A3c.1730A>C (p.Asp577Ala)
c.1691A>C (p.Asp564Ala)
c.1724A>C (p.Asp575Ala)
c.1601A>C (p.Asp534Ala)
19g.41978267C>ACA406045867ATP1A3c.1729G>T (p.Asp577Tyr)
c.1690G>T (p.Asp564Tyr)
c.1723G>T (p.Asp575Tyr)
c.1600G>T (p.Asp534Tyr)
19g.41978267C>GCA406045863ATP1A3c.1729G>C (p.Asp577His)
c.1690G>C (p.Asp564His)
c.1723G>C (p.Asp575His)
c.1600G>C (p.Asp534His)
19g.41978267C>TCA406045865ATP1A3c.1729G>A (p.Asp577Asn)
c.1690G>A (p.Asp564Asn)
c.1723G>A (p.Asp575Asn)
c.1600G>A (p.Asp534Asn)
19g.41978268A>CCA406045868ATP1A3c.1728T>G (p.Cys576Trp)
c.1689T>G (p.Cys563Trp)
c.1722T>G (p.Cys574Trp)
c.1599T>G (p.Cys533Trp)
19g.41978268A>GCA507695021ATP1A3c.1728T>C (p.Cys576=)
c.1689T>C (p.Cys563=)
c.1722T>C (p.Cys574=)
c.1599T>C (p.Cys533=)
19g.41978268A>TCA406045871ATP1A3c.1728T>A (p.Cys576Ter)
c.1689T>A (p.Cys563Ter)
c.1722T>A (p.Cys574Ter)
c.1599T>A (p.Cys533Ter)
19g.41978269C>ACA406045873ATP1A3c.1727G>T (p.Cys576Phe)
c.1688G>T (p.Cys563Phe)
c.1721G>T (p.Cys574Phe)
c.1598G>T (p.Cys533Phe)
19g.41978269C>GCA406045875ATP1A3c.1727G>C (p.Cys576Ser)
c.1688G>C (p.Cys563Ser)
c.1721G>C (p.Cys574Ser)
c.1598G>C (p.Cys533Ser)
19g.41978269C>TCA406045877ATP1A3c.1727G>A (p.Cys576Tyr)
c.1688G>A (p.Cys563Tyr)
c.1721G>A (p.Cys574Tyr)
c.1598G>A (p.Cys533Tyr)
ClinVar dbSNP
19g.41978270A>CCA406045879ATP1A3c.1726T>G (p.Cys576Gly)
c.1687T>G (p.Cys563Gly)
c.1720T>G (p.Cys574Gly)
c.1597T>G (p.Cys533Gly)
19g.41978270A>GCA406045881ATP1A3c.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
19g.41978270A>TCA406045883ATP1A3c.1726T>A (p.Cys576Ser)
c.1687T>A (p.Cys563Ser)
c.1720T>A (p.Cys574Ser)
c.1597T>A (p.Cys533Ser)
19g.41978271G>ACA507695024ATP1A3c.1725C>T (p.Asp575=)
c.1686C>T (p.Asp562=)
c.1719C>T (p.Asp573=)
c.1596C>T (p.Asp532=)
dbSNP gnomAD v4
19g.41978271G>CCA406045885ATP1A3c.1725C>G (p.Asp575Glu)
c.1686C>G (p.Asp562Glu)
c.1719C>G (p.Asp573Glu)
c.1596C>G (p.Asp532Glu)
dbSNP
19g.41978271G=CA2336724930ATP1A3c.1725C= (p.Asp575=)
c.1686C= (p.Asp562=)
c.1719C= (p.Asp573=)
c.1596C= (p.Asp532=)
19g.41978271G>TCA406045887ATP1A3c.1725C>A (p.Asp575Glu)
c.1686C>A (p.Asp562Glu)
c.1719C>A (p.Asp573Glu)
c.1596C>A (p.Asp532Glu)
19g.41978272T>ACA406045900ATP1A3c.1724A>T (p.Asp575Val)
c.1685A>T (p.Asp562Val)
c.1718A>T (p.Asp573Val)
c.1595A>T (p.Asp532Val)
19g.41978272T>CCA406045898ATP1A3c.1724A>G (p.Asp575Gly)
c.1685A>G (p.Asp562Gly)
c.1718A>G (p.Asp573Gly)
c.1595A>G (p.Asp532Gly)
19g.41978272T>GCA406045890ATP1A3c.1724A>C (p.Asp575Ala)
c.1685A>C (p.Asp562Ala)
c.1718A>C (p.Asp573Ala)
c.1595A>C (p.Asp532Ala)
gnomAD v4
19g.41978273C>ACA406045902ATP1A3c.1723G>T (p.Asp575Tyr)
c.1684G>T (p.Asp562Tyr)
c.1717G>T (p.Asp573Tyr)
c.1594G>T (p.Asp532Tyr)
gnomAD v4
19g.41978273C>GCA406045904ATP1A3c.1723G>C (p.Asp575His)
c.1684G>C (p.Asp562His)
c.1717G>C (p.Asp573His)
c.1594G>C (p.Asp532His)
19g.41978273C>TCA406045905ATP1A3c.1723G>A (p.Asp575Asn)
c.1684G>A (p.Asp562Asn)
c.1717G>A (p.Asp573Asn)
c.1594G>A (p.Asp532Asn)
gnomAD v4
19g.41978274G>ACA9467582ATP1A3c.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
19g.41978274G>CCA406045912ATP1A3c.1722C>G (p.Phe574Leu)
c.1683C>G (p.Phe561Leu)
c.1716C>G (p.Phe572Leu)
c.1593C>G (p.Phe531Leu)
19g.41978274G=CA2336724931ATP1A3c.1722C= (p.Phe574=)
c.1683C= (p.Phe561=)
c.1716C= (p.Phe572=)
c.1593C= (p.Phe531=)
19g.41978274G>TCA406045914ATP1A3c.1722C>A (p.Phe574Leu)
c.1683C>A (p.Phe561Leu)
c.1716C>A (p.Phe572Leu)
c.1593C>A (p.Phe531Leu)
19g.41978275A=CA2336724932ATP1A3c.1721T= (p.Phe574=)
c.1682T= (p.Phe561=)
c.1715T= (p.Phe572=)
c.1592T= (p.Phe531=)
19g.41978275A>CCA406045917ATP1A3c.1721T>G (p.Phe574Cys)
c.1682T>G (p.Phe561Cys)
c.1715T>G (p.Phe572Cys)
c.1592T>G (p.Phe531Cys)
19g.41978275A>GCA9467583ATP1A3c.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
19g.41978275A>TCA406045919ATP1A3c.1721T>A (p.Phe574Tyr)
c.1682T>A (p.Phe561Tyr)
c.1715T>A (p.Phe572Tyr)
c.1592T>A (p.Phe531Tyr)
19g.41978276A>CCA406045921ATP1A3c.1720T>G (p.Phe574Val)
c.1681T>G (p.Phe561Val)
c.1714T>G (p.Phe572Val)
c.1591T>G (p.Phe531Val)
19g.41978276A>GCA406045923ATP1A3c.1720T>C (p.Phe574Leu)
c.1681T>C (p.Phe561Leu)
c.1714T>C (p.Phe572Leu)
c.1591T>C (p.Phe531Leu)
19g.41978276A>TCA406045925ATP1A3c.1720T>A (p.Phe574Ile)
c.1681T>A (p.Phe561Ile)
c.1714T>A (p.Phe572Ile)
c.1591T>A (p.Phe531Ile)

Number of alleles fetched