Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41978152T>A | CA406045373 | ATP1A3 | c.1844A>T (p.Lys615Met) c.1805A>T (p.Lys602Met) c.1838A>T (p.Lys613Met) c.1715A>T (p.Lys572Met) | |
19 | g.41978152T>C | CA406045375 | ATP1A3 | c.1844A>G (p.Lys615Arg) c.1805A>G (p.Lys602Arg) c.1838A>G (p.Lys613Arg) c.1715A>G (p.Lys572Arg) | |
19 | g.41978152T>G | CA406045377 | ATP1A3 | c.1844A>C (p.Lys615Thr) c.1805A>C (p.Lys602Thr) c.1838A>C (p.Lys613Thr) c.1715A>C (p.Lys572Thr) | |
19 | g.41978153T>A | CA406045379 | ATP1A3 | c.1843A>T (p.Lys615Ter) c.1804A>T (p.Lys602Ter) c.1837A>T (p.Lys613Ter) c.1714A>T (p.Lys572Ter) | |
19 | g.41978153T>C | CA406045381 | ATP1A3 | c.1843A>G (p.Lys615Glu) c.1804A>G (p.Lys602Glu) c.1837A>G (p.Lys613Glu) c.1714A>G (p.Lys572Glu) | |
19 | g.41978153T>G | CA406045383 | ATP1A3 | c.1843A>C (p.Lys615Gln) c.1804A>C (p.Lys602Gln) c.1837A>C (p.Lys613Gln) c.1714A>C (p.Lys572Gln) | |
19 | g.41978154G>A | CA507586921 | ATP1A3 | c.1842C>T (p.Ile614=) c.1803C>T (p.Ile601=) c.1836C>T (p.Ile612=) c.1713C>T (p.Ile571=) | ClinVar gnomAD v4 |
19 | g.41978154G>C | CA406045385 | ATP1A3 | c.1842C>G (p.Ile614Met) c.1803C>G (p.Ile601Met) c.1836C>G (p.Ile612Met) c.1713C>G (p.Ile571Met) | |
19 | g.41978154G>T | CA507586923 | ATP1A3 | c.1842C>A (p.Ile614=) c.1803C>A (p.Ile601=) c.1836C>A (p.Ile612=) c.1713C>A (p.Ile571=) | |
19 | g.41978155A>C | CA406045388 | ATP1A3 | c.1841T>G (p.Ile614Ser) c.1802T>G (p.Ile601Ser) c.1835T>G (p.Ile612Ser) c.1712T>G (p.Ile571Ser) | |
19 | g.41978155A>G | CA406045389 | ATP1A3 | c.1841T>C (p.Ile614Thr) c.1802T>C (p.Ile601Thr) c.1835T>C (p.Ile612Thr) c.1712T>C (p.Ile571Thr) | |
19 | g.41978155A>T | CA406045390 | ATP1A3 | c.1841T>A (p.Ile614Asn) c.1802T>A (p.Ile601Asn) c.1835T>A (p.Ile612Asn) c.1712T>A (p.Ile571Asn) | |
19 | g.41978156T>A | CA406045392 | ATP1A3 | c.1840A>T (p.Ile614Phe) c.1801A>T (p.Ile601Phe) c.1834A>T (p.Ile612Phe) c.1711A>T (p.Ile571Phe) | ClinVar dbSNP |
19 | g.41978156T>C | CA406045394 | ATP1A3 | c.1840A>G (p.Ile614Val) c.1801A>G (p.Ile601Val) c.1834A>G (p.Ile612Val) c.1711A>G (p.Ile571Val) | |
19 | g.41978156T>G | CA406045396 | ATP1A3 | c.1840A>C (p.Ile614Leu) c.1801A>C (p.Ile601Leu) c.1834A>C (p.Ile612Leu) c.1711A>C (p.Ile571Leu) | gnomAD v4 |
19 | g.41978156T= | CA2336724892 | ATP1A3 | c.1840A= (p.Ile614=) c.1801A= (p.Ile601=) c.1834A= (p.Ile612=) c.1711A= (p.Ile571=) | |
19 | g.41978157G>A | CA507586939 | ATP1A3 | c.1839C>T (p.Gly613=) c.1800C>T (p.Gly600=) c.1833C>T (p.Gly611=) c.1710C>T (p.Gly570=) | gnomAD v4 |
19 | g.41978157G>C | CA507586941 | ATP1A3 | c.1839C>G (p.Gly613=) c.1800C>G (p.Gly600=) c.1833C>G (p.Gly611=) c.1710C>G (p.Gly570=) | |
19 | g.41978157G>T | CA507586943 | ATP1A3 | c.1839C>A (p.Gly613=) c.1800C>A (p.Gly600=) c.1833C>A (p.Gly611=) c.1710C>A (p.Gly570=) | |
19 | g.41978158C>A | CA406045398 | ATP1A3 | c.1838G>T (p.Gly613Val) c.1799G>T (p.Gly600Val) c.1832G>T (p.Gly611Val) c.1709G>T (p.Gly570Val) | |
19 | g.41978158C>G | CA406045401 | ATP1A3 | c.1838G>C (p.Gly613Ala) c.1799G>C (p.Gly600Ala) c.1832G>C (p.Gly611Ala) c.1709G>C (p.Gly570Ala) | |
19 | g.41978158C>T | CA406045400 | ATP1A3 | c.1838G>A (p.Gly613Asp) c.1799G>A (p.Gly600Asp) c.1832G>A (p.Gly611Asp) c.1709G>A (p.Gly570Asp) | COSMIC |
19 | g.41978159C>A | CA406045402 | ATP1A3 | c.1837G>T (p.Gly613Cys) c.1798G>T (p.Gly600Cys) c.1831G>T (p.Gly611Cys) c.1708G>T (p.Gly570Cys) | |
19 | g.41978159C>G | CA406045404 | ATP1A3 | c.1837G>C (p.Gly613Arg) c.1798G>C (p.Gly600Arg) c.1831G>C (p.Gly611Arg) c.1708G>C (p.Gly570Arg) | |
19 | g.41978159C>T | CA406045406 | ATP1A3 | c.1837G>A (p.Gly613Ser) c.1798G>A (p.Gly600Ser) c.1831G>A (p.Gly611Ser) c.1708G>A (p.Gly570Ser) | |
19 | g.41978160T>A | CA507586965 | ATP1A3 | c.1836A>T (p.Ala612=) c.1797A>T (p.Ala599=) c.1830A>T (p.Ala610=) c.1707A>T (p.Ala569=) | |
19 | g.41978160T>C | CA507586967 | ATP1A3 | c.1836A>G (p.Ala612=) c.1797A>G (p.Ala599=) c.1830A>G (p.Ala610=) c.1707A>G (p.Ala569=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41978160T>G | CA507586969 | ATP1A3 | c.1836A>C (p.Ala612=) c.1797A>C (p.Ala599=) c.1830A>C (p.Ala610=) c.1707A>C (p.Ala569=) | |
19 | g.41978161G>A | CA406045409 | ATP1A3 | c.1835C>T (p.Ala612Val) c.1796C>T (p.Ala599Val) c.1829C>T (p.Ala610Val) c.1706C>T (p.Ala569Val) | |
19 | g.41978161G>C | CA406045410 | ATP1A3 | c.1835C>G (p.Ala612Gly) c.1796C>G (p.Ala599Gly) c.1829C>G (p.Ala610Gly) c.1706C>G (p.Ala569Gly) | |
19 | g.41978161G>T | CA406045412 | ATP1A3 | c.1835C>A (p.Ala612Glu) c.1796C>A (p.Ala599Glu) c.1829C>A (p.Ala610Glu) c.1706C>A (p.Ala569Glu) | |
19 | g.41978162C>A | CA406045414 | ATP1A3 | c.1834G>T (p.Ala612Ser) c.1795G>T (p.Ala599Ser) c.1828G>T (p.Ala610Ser) c.1705G>T (p.Ala569Ser) | gnomAD v4 |
19 | g.41978162C= | CA2336724893 | ATP1A3 | c.1834G= (p.Ala612=) c.1795G= (p.Ala599=) c.1828G= (p.Ala610=) c.1705G= (p.Ala569=) | |
19 | g.41978162C>G | CA406045415 | ATP1A3 | c.1834G>C (p.Ala612Pro) c.1795G>C (p.Ala599Pro) c.1828G>C (p.Ala610Pro) c.1705G>C (p.Ala569Pro) | ClinVar |
19 | g.41978162C>T | CA16043749 | ATP1A3 | c.1834G>A (p.Ala612Thr) c.1795G>A (p.Ala599Thr) c.1828G>A (p.Ala610Thr) c.1705G>A (p.Ala569Thr) | ClinVar dbSNP gnomAD v4 |
19 | g.41978163G>A | CA9467569 | ATP1A3 | c.1833C>T (p.Ser611=) c.1794C>T (p.Ser598=) c.1827C>T (p.Ser609=) c.1704C>T (p.Ser568=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41978163G>C | CA406045418 | ATP1A3 | c.1833C>G (p.Ser611Arg) c.1794C>G (p.Ser598Arg) c.1827C>G (p.Ser609Arg) c.1704C>G (p.Ser568Arg) | |
19 | g.41978163G= | CA2336724894 | ATP1A3 | c.1833C= (p.Ser611=) c.1794C= (p.Ser598=) c.1827C= (p.Ser609=) c.1704C= (p.Ser568=) | |
19 | g.41978163G>T | CA406045420 | ATP1A3 | c.1833C>A (p.Ser611Arg) c.1794C>A (p.Ser598Arg) c.1827C>A (p.Ser609Arg) c.1704C>A (p.Ser568Arg) | |
19 | g.41978164C>A | CA406045427 | ATP1A3 | c.1832G>T (p.Ser611Ile) c.1793G>T (p.Ser598Ile) c.1826G>T (p.Ser609Ile) c.1703G>T (p.Ser568Ile) | |
19 | g.41978164C>G | CA406045423 | ATP1A3 | c.1832G>C (p.Ser611Thr) c.1793G>C (p.Ser598Thr) c.1826G>C (p.Ser609Thr) c.1703G>C (p.Ser568Thr) | |
19 | g.41978164C>T | CA406045424 | ATP1A3 | c.1832G>A (p.Ser611Asn) c.1793G>A (p.Ser598Asn) c.1826G>A (p.Ser609Asn) c.1703G>A (p.Ser568Asn) | |
19 | g.41978165T>A | CA406045429 | ATP1A3 | c.1831A>T (p.Ser611Cys) c.1792A>T (p.Ser598Cys) c.1825A>T (p.Ser609Cys) c.1702A>T (p.Ser568Cys) | |
19 | g.41978165T>C | CA406045431 | ATP1A3 | c.1831A>G (p.Ser611Gly) c.1792A>G (p.Ser598Gly) c.1825A>G (p.Ser609Gly) c.1702A>G (p.Ser568Gly) | |
19 | g.41978165T>G | CA406045433 | ATP1A3 | c.1831A>C (p.Ser611Arg) c.1792A>C (p.Ser598Arg) c.1825A>C (p.Ser609Arg) c.1702A>C (p.Ser568Arg) | |
19 | g.41978168_41978176del | CA2580097322 | ATP1A3 | c.1823_1831del (p.Lys608_Arg610del) c.1784_1792del (p.Lys595_Arg597del) c.1817_1825del (p.Lys606_Arg608del) c.1694_1702del (p.Lys565_Arg567del) | ClinVar |
19 | g.41978166G>A | CA507694898 | ATP1A3 | c.1830C>T (p.Arg610=) c.1791C>T (p.Arg597=) c.1824C>T (p.Arg608=) c.1701C>T (p.Arg567=) | |
19 | g.41978166G>C | CA507694899 | ATP1A3 | c.1830C>G (p.Arg610=) c.1791C>G (p.Arg597=) c.1824C>G (p.Arg608=) c.1701C>G (p.Arg567=) | |
19 | g.41978166G>T | CA507694900 | ATP1A3 | c.1830C>A (p.Arg610=) c.1791C>A (p.Arg597=) c.1824C>A (p.Arg608=) c.1701C>A (p.Arg567=) | |
19 | g.41978167C>A | CA406045435 | ATP1A3 | c.1829G>T (p.Arg610Leu) c.1790G>T (p.Arg597Leu) c.1823G>T (p.Arg608Leu) c.1700G>T (p.Arg567Leu) | |
19 | g.41978167C= | CA2336724895 | ATP1A3 | c.1829G= (p.Arg610=) c.1790G= (p.Arg597=) c.1823G= (p.Arg608=) c.1700G= (p.Arg567=) | |
19 | g.41978167C>G | CA406045437 | ATP1A3 | c.1829G>C (p.Arg610Pro) c.1790G>C (p.Arg597Pro) c.1823G>C (p.Arg608Pro) c.1700G>C (p.Arg567Pro) | |
19 | g.41978167C>T | CA406045439 | ATP1A3 | c.1829G>A (p.Arg610His) c.1790G>A (p.Arg597His) c.1823G>A (p.Arg608His) c.1700G>A (p.Arg567His) | ClinVar dbSNP gnomAD v4 |
19 | g.41978168G>A | CA406045444 | ATP1A3 | c.1828C>T (p.Arg610Cys) c.1789C>T (p.Arg597Cys) c.1822C>T (p.Arg608Cys) c.1699C>T (p.Arg567Cys) | ClinVar dbSNP |
19 | g.41978168G>C | CA406045442 | ATP1A3 | c.1828C>G (p.Arg610Gly) c.1789C>G (p.Arg597Gly) c.1822C>G (p.Arg608Gly) c.1699C>G (p.Arg567Gly) | |
19 | g.41978168G= | CA2336724896 | ATP1A3 | c.1828C= (p.Arg610=) c.1789C= (p.Arg597=) c.1822C= (p.Arg608=) c.1699C= (p.Arg567=) | |
19 | g.41978168G>T | CA406045443 | ATP1A3 | c.1828C>A (p.Arg610Ser) c.1789C>A (p.Arg597Ser) c.1822C>A (p.Arg608Ser) c.1699C>A (p.Arg567Ser) | |
19 | g.41978169A>C | CA406045447 | ATP1A3 | c.1827T>G (p.Cys609Trp) c.1788T>G (p.Cys596Trp) c.1821T>G (p.Cys607Trp) c.1698T>G (p.Cys566Trp) | |
19 | g.41978169A>G | CA507694905 | ATP1A3 | c.1827T>C (p.Cys609=) c.1788T>C (p.Cys596=) c.1821T>C (p.Cys607=) c.1698T>C (p.Cys566=) | |
19 | g.41978169A>T | CA406045449 | ATP1A3 | c.1827T>A (p.Cys609Ter) c.1788T>A (p.Cys596Ter) c.1821T>A (p.Cys607Ter) c.1698T>A (p.Cys566Ter) | |
19 | g.41978170C>A | CA406045451 | ATP1A3 | c.1826G>T (p.Cys609Phe) c.1787G>T (p.Cys596Phe) c.1820G>T (p.Cys607Phe) c.1697G>T (p.Cys566Phe) | |
19 | g.41978170C>G | CA406045453 | ATP1A3 | c.1826G>C (p.Cys609Ser) c.1787G>C (p.Cys596Ser) c.1820G>C (p.Cys607Ser) c.1697G>C (p.Cys566Ser) | |
19 | g.41978170C>T | CA406045455 | ATP1A3 | c.1826G>A (p.Cys609Tyr) c.1787G>A (p.Cys596Tyr) c.1820G>A (p.Cys607Tyr) c.1697G>A (p.Cys566Tyr) | |
19 | g.41978171A>C | CA406045457 | ATP1A3 | c.1825T>G (p.Cys609Gly) c.1786T>G (p.Cys596Gly) c.1819T>G (p.Cys607Gly) c.1696T>G (p.Cys566Gly) | |
19 | g.41978171A>G | CA406045461 | ATP1A3 | c.1825T>C (p.Cys609Arg) c.1786T>C (p.Cys596Arg) c.1819T>C (p.Cys607Arg) c.1696T>C (p.Cys566Arg) | |
19 | g.41978171A>T | CA406045460 | ATP1A3 | c.1825T>A (p.Cys609Ser) c.1786T>A (p.Cys596Ser) c.1819T>A (p.Cys607Ser) c.1696T>A (p.Cys566Ser) | gnomAD v4 |
19 | g.41978172C>A | CA406045463 | ATP1A3 | c.1824G>T (p.Lys608Asn) c.1785G>T (p.Lys595Asn) c.1818G>T (p.Lys606Asn) c.1695G>T (p.Lys565Asn) | |
19 | g.41978172C>G | CA406045465 | ATP1A3 | c.1824G>C (p.Lys608Asn) c.1785G>C (p.Lys595Asn) c.1818G>C (p.Lys606Asn) c.1695G>C (p.Lys565Asn) | |
19 | g.41978172C>T | CA507694907 | ATP1A3 | c.1824G>A (p.Lys608=) c.1785G>A (p.Lys595=) c.1818G>A (p.Lys606=) c.1695G>A (p.Lys565=) | gnomAD v4 |
19 | g.41978173T>A | CA406045468 | ATP1A3 | c.1823A>T (p.Lys608Met) c.1784A>T (p.Lys595Met) c.1817A>T (p.Lys606Met) c.1694A>T (p.Lys565Met) | |
19 | g.41978173T>C | CA406045469 | ATP1A3 | c.1823A>G (p.Lys608Arg) c.1784A>G (p.Lys595Arg) c.1817A>G (p.Lys606Arg) c.1694A>G (p.Lys565Arg) | |
19 | g.41978173T>G | CA406045470 | ATP1A3 | c.1823A>C (p.Lys608Thr) c.1784A>C (p.Lys595Thr) c.1817A>C (p.Lys606Thr) c.1694A>C (p.Lys565Thr) | |
19 | g.41978174T>A | CA406045473 | ATP1A3 | c.1822A>T (p.Lys608Ter) c.1783A>T (p.Lys595Ter) c.1816A>T (p.Lys606Ter) c.1693A>T (p.Lys565Ter) | |
19 | g.41978174T>C | CA406045475 | ATP1A3 | c.1822A>G (p.Lys608Glu) c.1783A>G (p.Lys595Glu) c.1816A>G (p.Lys606Glu) c.1693A>G (p.Lys565Glu) | |
19 | g.41978174T>G | CA406045477 | ATP1A3 | c.1822A>C (p.Lys608Gln) c.1783A>C (p.Lys595Gln) c.1816A>C (p.Lys606Gln) c.1693A>C (p.Lys565Gln) | |
19 | g.41978175G>A | CA507694908 | ATP1A3 | c.1821C>T (p.Gly607=) c.1782C>T (p.Gly594=) c.1815C>T (p.Gly605=) c.1692C>T (p.Gly564=) | |
19 | g.41978175G>C | CA507694910 | ATP1A3 | c.1821C>G (p.Gly607=) c.1782C>G (p.Gly594=) c.1815C>G (p.Gly605=) c.1692C>G (p.Gly564=) | gnomAD v4 |
19 | g.41978175G>T | CA507694909 | ATP1A3 | c.1821C>A (p.Gly607=) c.1782C>A (p.Gly594=) c.1815C>A (p.Gly605=) c.1692C>A (p.Gly564=) | |
19 | g.41978176C>A | CA406045480 | ATP1A3 | c.1820G>T (p.Gly607Val) c.1781G>T (p.Gly594Val) c.1814G>T (p.Gly605Val) c.1691G>T (p.Gly564Val) | |
19 | g.41978176C>G | CA406045481 | ATP1A3 | c.1820G>C (p.Gly607Ala) c.1781G>C (p.Gly594Ala) c.1814G>C (p.Gly605Ala) c.1691G>C (p.Gly564Ala) | ClinVar dbSNP |
19 | g.41978176C>T | CA406045483 | ATP1A3 | c.1820G>A (p.Gly607Asp) c.1781G>A (p.Gly594Asp) c.1814G>A (p.Gly605Asp) c.1691G>A (p.Gly564Asp) | |
19 | g.41978177C>A | CA406045485 | ATP1A3 | c.1819G>T (p.Gly607Cys) c.1780G>T (p.Gly594Cys) c.1813G>T (p.Gly605Cys) c.1690G>T (p.Gly564Cys) | |
19 | g.41978177C>G | CA406045489 | ATP1A3 | c.1819G>C (p.Gly607Arg) c.1780G>C (p.Gly594Arg) c.1813G>C (p.Gly605Arg) c.1690G>C (p.Gly564Arg) | |
19 | g.41978177C>T | CA406045487 | ATP1A3 | c.1819G>A (p.Gly607Ser) c.1780G>A (p.Gly594Ser) c.1813G>A (p.Gly605Ser) c.1690G>A (p.Gly564Ser) | |
19 | g.41978178C>A | CA507694914 | ATP1A3 | c.1818G>T (p.Val606=) c.1779G>T (p.Val593=) c.1812G>T (p.Val604=) c.1689G>T (p.Val563=) | |
19 | g.41978178C>G | CA507694915 | ATP1A3 | c.1818G>C (p.Val606=) c.1779G>C (p.Val593=) c.1812G>C (p.Val604=) c.1689G>C (p.Val563=) | |
19 | g.41978178C>T | CA507694916 | ATP1A3 | c.1818G>A (p.Val606=) c.1779G>A (p.Val593=) c.1812G>A (p.Val604=) c.1689G>A (p.Val563=) | gnomAD v4 |
19 | g.41978179A>C | CA406045491 | ATP1A3 | c.1817T>G (p.Val606Gly) c.1778T>G (p.Val593Gly) c.1811T>G (p.Val604Gly) c.1688T>G (p.Val563Gly) | |
19 | g.41978179A>G | CA406045496 | ATP1A3 | c.1817T>C (p.Val606Ala) c.1778T>C (p.Val593Ala) c.1811T>C (p.Val604Ala) c.1688T>C (p.Val563Ala) | |
19 | g.41978179A>T | CA406045493 | ATP1A3 | c.1817T>A (p.Val606Glu) c.1778T>A (p.Val593Glu) c.1811T>A (p.Val604Glu) c.1688T>A (p.Val563Glu) | |
19 | g.41978180C>A | CA406045498 | ATP1A3 | c.1816G>T (p.Val606Leu) c.1777G>T (p.Val593Leu) c.1810G>T (p.Val604Leu) c.1687G>T (p.Val563Leu) | |
19 | g.41978180C>G | CA406045500 | ATP1A3 | c.1816G>C (p.Val606Leu) c.1777G>C (p.Val593Leu) c.1810G>C (p.Val604Leu) c.1687G>C (p.Val563Leu) | |
19 | g.41978180C>T | CA406045502 | ATP1A3 | c.1816G>A (p.Val606Met) c.1777G>A (p.Val593Met) c.1810G>A (p.Val604Met) c.1687G>A (p.Val563Met) | |
19 | g.41978181C>A | CA507694920 | ATP1A3 | c.1815G>T (p.Ala605=) c.1776G>T (p.Ala592=) c.1809G>T (p.Ala603=) c.1686G>T (p.Ala562=) | |
19 | g.41978181C= | CA2336724897 | ATP1A3 | c.1815G= (p.Ala605=) c.1776G= (p.Ala592=) c.1809G= (p.Ala603=) c.1686G= (p.Ala562=) | |
19 | g.41978181C>G | CA507694922 | ATP1A3 | c.1815G>C (p.Ala605=) c.1776G>C (p.Ala592=) c.1809G>C (p.Ala603=) c.1686G>C (p.Ala562=) | |
19 | g.41978181C>T | CA9467570 | ATP1A3 | c.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 |
19 | g.41978182G>A | CA406045505 | ATP1A3 | c.1814C>T (p.Ala605Val) c.1775C>T (p.Ala592Val) c.1808C>T (p.Ala603Val) c.1685C>T (p.Ala562Val) | ClinVar dbSNP COSMIC |
19 | g.41978182G>C | CA406045507 | ATP1A3 | c.1814C>G (p.Ala605Gly) c.1775C>G (p.Ala592Gly) c.1808C>G (p.Ala603Gly) c.1685C>G (p.Ala562Gly) | |
19 | g.41978182G= | CA2336724898 | ATP1A3 | c.1814C= (p.Ala605=) c.1775C= (p.Ala592=) c.1808C= (p.Ala603=) c.1685C= (p.Ala562=) | |
19 | g.41978182G>T | CA406045509 | ATP1A3 | c.1814C>A (p.Ala605Glu) c.1775C>A (p.Ala592Glu) c.1808C>A (p.Ala603Glu) c.1685C>A (p.Ala562Glu) | ClinVar dbSNP |
19 | g.41978183C>A | CA406045511 | ATP1A3 | c.1813G>T (p.Ala605Ser) c.1774G>T (p.Ala592Ser) c.1807G>T (p.Ala603Ser) c.1684G>T (p.Ala562Ser) | |
19 | g.41978183C>G | CA406045512 | ATP1A3 | c.1813G>C (p.Ala605Pro) c.1774G>C (p.Ala592Pro) c.1807G>C (p.Ala603Pro) c.1684G>C (p.Ala562Pro) | |
19 | g.41978183C>T | CA406045515 | ATP1A3 | c.1813G>A (p.Ala605Thr) c.1774G>A (p.Ala592Thr) c.1807G>A (p.Ala603Thr) c.1684G>A (p.Ala562Thr) | gnomAD v4 |
19 | g.41978184G>A | CA9467571 | ATP1A3 | c.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 |
19 | g.41978184G>C | CA406045518 | ATP1A3 | c.1812C>G (p.Asp604Glu) c.1773C>G (p.Asp591Glu) c.1806C>G (p.Asp602Glu) c.1683C>G (p.Asp561Glu) | |
19 | g.41978184G= | CA2336724899 | ATP1A3 | c.1812C= (p.Asp604=) c.1773C= (p.Asp591=) c.1806C= (p.Asp602=) c.1683C= (p.Asp561=) | |
19 | g.41978184G>T | CA406045520 | ATP1A3 | c.1812C>A (p.Asp604Glu) c.1773C>A (p.Asp591Glu) c.1806C>A (p.Asp602Glu) c.1683C>A (p.Asp561Glu) | |
19 | g.41978185T>A | CA406045522 | ATP1A3 | c.1811A>T (p.Asp604Val) c.1772A>T (p.Asp591Val) c.1805A>T (p.Asp602Val) c.1682A>T (p.Asp561Val) | |
19 | g.41978185T>C | CA406045526 | ATP1A3 | c.1811A>G (p.Asp604Gly) c.1772A>G (p.Asp591Gly) c.1805A>G (p.Asp602Gly) c.1682A>G (p.Asp561Gly) | |
19 | g.41978185T>G | CA406045524 | ATP1A3 | c.1811A>C (p.Asp604Ala) c.1772A>C (p.Asp591Ala) c.1805A>C (p.Asp602Ala) c.1682A>C (p.Asp561Ala) | |
19 | g.41978186C>A | CA406045528 | ATP1A3 | c.1810G>T (p.Asp604Tyr) c.1771G>T (p.Asp591Tyr) c.1804G>T (p.Asp602Tyr) c.1681G>T (p.Asp561Tyr) | |
19 | g.41978186C>G | CA406045529 | ATP1A3 | c.1810G>C (p.Asp604His) c.1771G>C (p.Asp591His) c.1804G>C (p.Asp602His) c.1681G>C (p.Asp561His) | |
19 | g.41978186C>T | CA406045531 | ATP1A3 | c.1810G>A (p.Asp604Asn) c.1771G>A (p.Asp591Asn) c.1804G>A (p.Asp602Asn) c.1681G>A (p.Asp561Asn) | |
19 | g.41978187A>C | CA507694927 | ATP1A3 | c.1809T>G (p.Pro603=) c.1770T>G (p.Pro590=) c.1803T>G (p.Pro601=) c.1680T>G (p.Pro560=) | |
19 | g.41978187A>G | CA507694930 | ATP1A3 | c.1809T>C (p.Pro603=) c.1770T>C (p.Pro590=) c.1803T>C (p.Pro601=) c.1680T>C (p.Pro560=) | |
19 | g.41978187A>T | CA507694929 | ATP1A3 | c.1809T>A (p.Pro603=) c.1770T>A (p.Pro590=) c.1803T>A (p.Pro601=) c.1680T>A (p.Pro560=) | |
19 | g.41978188G>A | CA406045533 | ATP1A3 | c.1808C>T (p.Pro603Leu) c.1769C>T (p.Pro590Leu) c.1802C>T (p.Pro601Leu) c.1679C>T (p.Pro560Leu) | |
19 | g.41978188G>C | CA406045535 | ATP1A3 | c.1808C>G (p.Pro603Arg) c.1769C>G (p.Pro590Arg) c.1802C>G (p.Pro601Arg) c.1679C>G (p.Pro560Arg) | |
19 | g.41978188G>T | CA406045536 | ATP1A3 | c.1808C>A (p.Pro603His) c.1769C>A (p.Pro590His) c.1802C>A (p.Pro601His) c.1679C>A (p.Pro560His) | |
19 | g.41978189G>A | CA406045539 | ATP1A3 | c.1807C>T (p.Pro603Ser) c.1768C>T (p.Pro590Ser) c.1801C>T (p.Pro601Ser) c.1678C>T (p.Pro560Ser) | |
19 | g.41978189G>C | CA406045541 | ATP1A3 | c.1807C>G (p.Pro603Ala) c.1768C>G (p.Pro590Ala) c.1801C>G (p.Pro601Ala) c.1678C>G (p.Pro560Ala) | |
19 | g.41978189G>T | CA406045543 | ATP1A3 | c.1807C>A (p.Pro603Thr) c.1768C>A (p.Pro590Thr) c.1801C>A (p.Pro601Thr) c.1678C>A (p.Pro560Thr) | |
19 | g.41978190G>A | CA507694933 | ATP1A3 | c.1806C>T (p.Val602=) c.1767C>T (p.Val589=) c.1800C>T (p.Val600=) c.1677C>T (p.Val559=) | |
19 | g.41978190G>C | CA507694934 | ATP1A3 | c.1806C>G (p.Val602=) c.1767C>G (p.Val589=) c.1800C>G (p.Val600=) c.1677C>G (p.Val559=) | |
19 | g.41978190G= | CA2336724900 | ATP1A3 | c.1806C= (p.Val602=) c.1767C= (p.Val589=) c.1800C= (p.Val600=) c.1677C= (p.Val559=) | |
19 | g.41978190G>T | CA507694935 | ATP1A3 | c.1806C>A (p.Val602=) c.1767C>A (p.Val589=) c.1800C>A (p.Val600=) c.1677C>A (p.Val559=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41978191A>C | CA406045549 | ATP1A3 | c.1805T>G (p.Val602Gly) c.1766T>G (p.Val589Gly) c.1799T>G (p.Val600Gly) c.1676T>G (p.Val559Gly) | |
19 | g.41978191A>G | CA406045547 | ATP1A3 | c.1805T>C (p.Val602Ala) c.1766T>C (p.Val589Ala) c.1799T>C (p.Val600Ala) c.1676T>C (p.Val559Ala) | |
19 | g.41978191A>T | CA406045545 | ATP1A3 | c.1805T>A (p.Val602Asp) c.1766T>A (p.Val589Asp) c.1799T>A (p.Val600Asp) c.1676T>A (p.Val559Asp) | |
19 | g.41978192C>A | CA406045551 | ATP1A3 | c.1804G>T (p.Val602Phe) c.1765G>T (p.Val589Phe) c.1798G>T (p.Val600Phe) c.1675G>T (p.Val559Phe) | ClinVar dbSNP |
19 | g.41978192C= | CA2336724901 | ATP1A3 | c.1804G= (p.Val602=) c.1765G= (p.Val589=) c.1798G= (p.Val600=) c.1675G= (p.Val559=) | |
19 | g.41978192C>G | CA406045553 | ATP1A3 | c.1804G>C (p.Val602Leu) c.1765G>C (p.Val589Leu) c.1798G>C (p.Val600Leu) c.1675G>C (p.Val559Leu) | |
19 | g.41978192C>T | CA406045555 | ATP1A3 | c.1804G>A (p.Val602Ile) c.1765G>A (p.Val589Ile) c.1798G>A (p.Val600Ile) c.1675G>A (p.Val559Ile) | gnomAD v4 COSMIC |
19 | g.41978192dup | CA2838402627 | ATP1A3 | c.1804dup (p.Val602GlyfsTer3) c.1765dup (p.Val589GlyfsTer3) c.1798dup (p.Val600GlyfsTer3) c.1675dup (p.Val559GlyfsTer3) | |
19 | g.41978193G>A | CA9467572 | ATP1A3 | c.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 |
19 | g.41978193G>C | CA507694937 | ATP1A3 | c.1803C>G (p.Ala601=) c.1764C>G (p.Ala588=) c.1797C>G (p.Ala599=) c.1674C>G (p.Ala558=) | gnomAD v4 |
19 | g.41978193G= | CA2336724902 | ATP1A3 | c.1803C= (p.Ala601=) c.1764C= (p.Ala588=) c.1797C= (p.Ala599=) c.1674C= (p.Ala558=) | |
19 | g.41978193G>T | CA507694939 | ATP1A3 | c.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 |
19 | g.41978194G>A | CA406045558 | ATP1A3 | c.1802C>T (p.Ala601Val) c.1763C>T (p.Ala588Val) c.1796C>T (p.Ala599Val) c.1673C>T (p.Ala558Val) | dbSNP gnomAD v2 COSMIC |
19 | g.41978194G>C | CA406045560 | ATP1A3 | c.1802C>G (p.Ala601Gly) c.1763C>G (p.Ala588Gly) c.1796C>G (p.Ala599Gly) c.1673C>G (p.Ala558Gly) | |
19 | g.41978194G= | CA2336724903 | ATP1A3 | c.1802C= (p.Ala601=) c.1763C= (p.Ala588=) c.1796C= (p.Ala599=) c.1673C= (p.Ala558=) | |
19 | g.41978194G>T | CA406045562 | ATP1A3 | c.1802C>A (p.Ala601Asp) c.1763C>A (p.Ala588Asp) c.1796C>A (p.Ala599Asp) c.1673C>A (p.Ala558Asp) | |
19 | g.41978195C>A | CA406045565 | ATP1A3 | c.1801G>T (p.Ala601Ser) c.1762G>T (p.Ala588Ser) c.1795G>T (p.Ala599Ser) c.1672G>T (p.Ala558Ser) | |
19 | g.41978195C>G | CA406045566 | ATP1A3 | c.1801G>C (p.Ala601Pro) c.1762G>C (p.Ala588Pro) c.1795G>C (p.Ala599Pro) c.1672G>C (p.Ala558Pro) | |
19 | g.41978195C>T | CA406045568 | ATP1A3 | c.1801G>A (p.Ala601Thr) c.1762G>A (p.Ala588Thr) c.1795G>A (p.Ala599Thr) c.1672G>A (p.Ala558Thr) | |
19 | g.41978196T>A | CA507694945 | ATP1A3 | c.1800A>T (p.Ala600=) c.1761A>T (p.Ala587=) c.1794A>T (p.Ala598=) c.1671A>T (p.Ala557=) | |
19 | g.41978196T>C | CA507694943 | ATP1A3 | c.1800A>G (p.Ala600=) c.1761A>G (p.Ala587=) c.1794A>G (p.Ala598=) c.1671A>G (p.Ala557=) | dbSNP |
19 | g.41978196T>G | CA507694942 | ATP1A3 | c.1800A>C (p.Ala600=) c.1761A>C (p.Ala587=) c.1794A>C (p.Ala598=) c.1671A>C (p.Ala557=) | |
19 | g.41978196T= | CA2336724904 | ATP1A3 | c.1800A= (p.Ala600=) c.1761A= (p.Ala587=) c.1794A= (p.Ala598=) c.1671A= (p.Ala557=) | |
19 | g.41978197G>A | CA406045570 | ATP1A3 | c.1799C>T (p.Ala600Val) c.1760C>T (p.Ala587Val) c.1793C>T (p.Ala598Val) c.1670C>T (p.Ala557Val) | |
19 | g.41978197G>C | CA406045572 | ATP1A3 | c.1799C>G (p.Ala600Gly) c.1760C>G (p.Ala587Gly) c.1793C>G (p.Ala598Gly) c.1670C>G (p.Ala557Gly) | |
19 | g.41978197G>T | CA406045573 | ATP1A3 | c.1799C>A (p.Ala600Glu) c.1760C>A (p.Ala587Glu) c.1793C>A (p.Ala598Glu) c.1670C>A (p.Ala557Glu) | |
19 | g.41978198C>A | CA406045574 | ATP1A3 | c.1798G>T (p.Ala600Ser) c.1759G>T (p.Ala587Ser) c.1792G>T (p.Ala598Ser) c.1669G>T (p.Ala557Ser) | |
19 | g.41978198C>G | CA406045576 | ATP1A3 | c.1798G>C (p.Ala600Pro) c.1759G>C (p.Ala587Pro) c.1792G>C (p.Ala598Pro) c.1669G>C (p.Ala557Pro) | |
19 | g.41978198C>T | CA406045575 | ATP1A3 | c.1798G>A (p.Ala600Thr) c.1759G>A (p.Ala587Thr) c.1792G>A (p.Ala598Thr) c.1669G>A (p.Ala557Thr) | |
19 | g.41978199C>A | CA507694949 | ATP1A3 | c.1797G>T (p.Arg599=) c.1758G>T (p.Arg586=) c.1791G>T (p.Arg597=) c.1668G>T (p.Arg556=) | |
19 | g.41978199C= | CA2336724905 | ATP1A3 | c.1797G= (p.Arg599=) c.1758G= (p.Arg586=) c.1791G= (p.Arg597=) c.1668G= (p.Arg556=) | |
19 | g.41978199C>G | CA308591767 | ATP1A3 | c.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 |
19 | g.41978199C>T | CA507694951 | ATP1A3 | c.1797G>A (p.Arg599=) c.1758G>A (p.Arg586=) c.1791G>A (p.Arg597=) c.1668G>A (p.Arg556=) | |
19 | g.41978200C>A | CA406045577 | ATP1A3 | c.1796G>T (p.Arg599Leu) c.1757G>T (p.Arg586Leu) c.1790G>T (p.Arg597Leu) c.1667G>T (p.Arg556Leu) | |
19 | g.41978200C= | CA2336724906 | ATP1A3 | c.1796G= (p.Arg599=) c.1757G= (p.Arg586=) c.1790G= (p.Arg597=) c.1667G= (p.Arg556=) | |
19 | g.41978200C>G | CA406045578 | ATP1A3 | c.1796G>C (p.Arg599Pro) c.1757G>C (p.Arg586Pro) c.1790G>C (p.Arg597Pro) c.1667G>C (p.Arg556Pro) | |
19 | g.41978200C>T | CA406045579 | ATP1A3 | c.1796G>A (p.Arg599Gln) c.1757G>A (p.Arg586Gln) c.1790G>A (p.Arg597Gln) c.1667G>A (p.Arg556Gln) | dbSNP |
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.41978212dup | CA2840784526 | ATP1A3 | c.1784dup (p.Asp596ArgfsTer9) c.1745dup (p.Asp583ArgfsTer9) c.1778dup (p.Asp594ArgfsTer9) c.1655dup (p.Asp553ArgfsTer9) | |
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.41978221dup | CA2840784527 | ATP1A3 | c.1775dup (p.Met592IlefsTer13) c.1736dup (p.Met579IlefsTer13) c.1769dup (p.Met590IlefsTer13) c.1646dup (p.Met549IlefsTer13) | |
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.41978234dup | CA2840784528 | ATP1A3 | c.1764dup (p.Val589CysfsTer16) c.1725dup (p.Val576CysfsTer16) c.1758dup (p.Val587CysfsTer16) c.1635dup (p.Val546CysfsTer16) | |
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.41978241dup | CA2840784529 | ATP1A3 | c.1756dup (p.Leu586ProfsTer19) c.1717dup (p.Leu573ProfsTer19) c.1750dup (p.Leu584ProfsTer19) c.1627dup (p.Leu543ProfsTer19) | |
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=) |