Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41978010G>A | CA9467548 | ATP1A3 | c.1908C>T (p.Ile636=) c.1869C>T (p.Ile623=) c.1902C>T (p.Ile634=) c.1779C>T (p.Ile593=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41978010G>C | CA406045055 | ATP1A3 | c.1908C>G (p.Ile636Met) c.1869C>G (p.Ile623Met) c.1902C>G (p.Ile634Met) c.1779C>G (p.Ile593Met) | |
19 | g.41978010G= | CA2336724844 | ATP1A3 | c.1908C= (p.Ile636=) c.1869C= (p.Ile623=) c.1902C= (p.Ile634=) c.1779C= (p.Ile593=) | |
19 | g.41978010G>T | CA507586608 | ATP1A3 | c.1908C>A (p.Ile636=) c.1869C>A (p.Ile623=) c.1902C>A (p.Ile634=) c.1779C>A (p.Ile593=) | |
19 | g.41978011A>C | CA406045057 | ATP1A3 | c.1907T>G (p.Ile636Ser) c.1868T>G (p.Ile623Ser) c.1901T>G (p.Ile634Ser) c.1778T>G (p.Ile593Ser) | |
19 | g.41978011A>G | CA406045058 | ATP1A3 | c.1907T>C (p.Ile636Thr) c.1868T>C (p.Ile623Thr) c.1901T>C (p.Ile634Thr) c.1778T>C (p.Ile593Thr) | |
19 | g.41978011A>T | CA406045060 | ATP1A3 | c.1907T>A (p.Ile636Asn) c.1868T>A (p.Ile623Asn) c.1901T>A (p.Ile634Asn) c.1778T>A (p.Ile593Asn) | |
19 | g.41978012T>A | CA406045062 | ATP1A3 | c.1906A>T (p.Ile636Phe) c.1867A>T (p.Ile623Phe) c.1900A>T (p.Ile634Phe) c.1777A>T (p.Ile593Phe) | |
19 | g.41978012T>C | CA406045063 | ATP1A3 | c.1906A>G (p.Ile636Val) c.1867A>G (p.Ile623Val) c.1900A>G (p.Ile634Val) c.1777A>G (p.Ile593Val) | |
19 | g.41978012T>G | CA406045064 | ATP1A3 | c.1906A>C (p.Ile636Leu) c.1867A>C (p.Ile623Leu) c.1900A>C (p.Ile634Leu) c.1777A>C (p.Ile593Leu) | |
19 | g.41978013G>A | CA507586619 | ATP1A3 | c.1905C>T (p.Gly635=) c.1866C>T (p.Gly622=) c.1899C>T (p.Gly633=) c.1776C>T (p.Gly592=) | |
19 | g.41978013G>C | CA507586622 | ATP1A3 | c.1905C>G (p.Gly635=) c.1866C>G (p.Gly622=) c.1899C>G (p.Gly633=) c.1776C>G (p.Gly592=) | |
19 | g.41978013G= | CA2336724845 | ATP1A3 | c.1905C= (p.Gly635=) c.1866C= (p.Gly622=) c.1899C= (p.Gly633=) c.1776C= (p.Gly592=) | |
19 | g.41978013G>T | CA507586623 | ATP1A3 | c.1905C>A (p.Gly635=) c.1866C>A (p.Gly622=) c.1899C>A (p.Gly633=) c.1776C>A (p.Gly592=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978014C>A | CA406045065 | ATP1A3 | c.1904G>T (p.Gly635Val) c.1865G>T (p.Gly622Val) c.1898G>T (p.Gly633Val) c.1775G>T (p.Gly592Val) | |
19 | g.41978014C>G | CA406045066 | ATP1A3 | c.1904G>C (p.Gly635Ala) c.1865G>C (p.Gly622Ala) c.1898G>C (p.Gly633Ala) c.1775G>C (p.Gly592Ala) | |
19 | g.41978014C>T | CA406045068 | ATP1A3 | c.1904G>A (p.Gly635Asp) c.1865G>A (p.Gly622Asp) c.1898G>A (p.Gly633Asp) c.1775G>A (p.Gly592Asp) | |
19 | g.41978015C>A | CA406045074 | ATP1A3 | c.1903G>T (p.Gly635Cys) c.1864G>T (p.Gly622Cys) c.1897G>T (p.Gly633Cys) c.1774G>T (p.Gly592Cys) | |
19 | g.41978015C>G | CA406045072 | ATP1A3 | c.1903G>C (p.Gly635Arg) c.1864G>C (p.Gly622Arg) c.1897G>C (p.Gly633Arg) c.1774G>C (p.Gly592Arg) | |
19 | g.41978015C>T | CA406045071 | ATP1A3 | c.1903G>A (p.Gly635Ser) c.1864G>A (p.Gly622Ser) c.1897G>A (p.Gly633Ser) c.1774G>A (p.Gly592Ser) | |
19 | g.41978016C>A | CA507586635 | ATP1A3 | c.1902G>T (p.Val634=) c.1863G>T (p.Val621=) c.1896G>T (p.Val632=) c.1773G>T (p.Val591=) | |
19 | g.41978016C>G | CA507586636 | ATP1A3 | c.1902G>C (p.Val634=) c.1863G>C (p.Val621=) c.1896G>C (p.Val632=) c.1773G>C (p.Val591=) | |
19 | g.41978016C>T | CA507586638 | ATP1A3 | c.1902G>A (p.Val634=) c.1863G>A (p.Val621=) c.1896G>A (p.Val632=) c.1773G>A (p.Val591=) | gnomAD v4 |
19 | g.41978017A>C | CA406045077 | ATP1A3 | c.1901T>G (p.Val634Gly) c.1862T>G (p.Val621Gly) c.1895T>G (p.Val632Gly) c.1772T>G (p.Val591Gly) | gnomAD v4 |
19 | g.41978017A>G | CA406045078 | ATP1A3 | c.1901T>C (p.Val634Ala) c.1862T>C (p.Val621Ala) c.1895T>C (p.Val632Ala) c.1772T>C (p.Val591Ala) | |
19 | g.41978017A>T | CA406045079 | ATP1A3 | c.1901T>A (p.Val634Glu) c.1862T>A (p.Val621Glu) c.1895T>A (p.Val632Glu) c.1772T>A (p.Val591Glu) | |
19 | g.41978018C>A | CA406045081 | ATP1A3 | c.1900G>T (p.Val634Leu) c.1861G>T (p.Val621Leu) c.1894G>T (p.Val632Leu) c.1771G>T (p.Val591Leu) | |
19 | g.41978018C>G | CA406045082 | ATP1A3 | c.1900G>C (p.Val634Leu) c.1861G>C (p.Val621Leu) c.1894G>C (p.Val632Leu) c.1771G>C (p.Val591Leu) | |
19 | g.41978018C>T | CA406045085 | ATP1A3 | c.1900G>A (p.Val634Met) c.1861G>A (p.Val621Met) c.1894G>A (p.Val632Met) c.1771G>A (p.Val591Met) | |
19 | g.41978019A= | CA2336724846 | ATP1A3 | c.1899T= (p.Gly633=) c.1860T= (p.Gly620=) c.1893T= (p.Gly631=) c.1770T= (p.Gly590=) | |
19 | g.41978019A>C | CA507586647 | ATP1A3 | c.1899T>G (p.Gly633=) c.1860T>G (p.Gly620=) c.1893T>G (p.Gly631=) c.1770T>G (p.Gly590=) | |
19 | g.41978019A>G | CA507586649 | ATP1A3 | c.1899T>C (p.Gly633=) c.1860T>C (p.Gly620=) c.1893T>C (p.Gly631=) c.1770T>C (p.Gly590=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41978019A>T | CA507586650 | ATP1A3 | c.1899T>A (p.Gly633=) c.1860T>A (p.Gly620=) c.1893T>A (p.Gly631=) c.1770T>A (p.Gly590=) | |
19 | g.41978020C>A | CA406045087 | ATP1A3 | c.1898G>T (p.Gly633Val) c.1859G>T (p.Gly620Val) c.1892G>T (p.Gly631Val) c.1769G>T (p.Gly590Val) | |
19 | g.41978020C>G | CA406045089 | ATP1A3 | c.1898G>C (p.Gly633Ala) c.1859G>C (p.Gly620Ala) c.1892G>C (p.Gly631Ala) c.1769G>C (p.Gly590Ala) | |
19 | g.41978020C>T | CA406045091 | ATP1A3 | c.1898G>A (p.Gly633Asp) c.1859G>A (p.Gly620Asp) c.1892G>A (p.Gly631Asp) c.1769G>A (p.Gly590Asp) | |
19 | g.41978021C>A | CA406045094 | ATP1A3 | c.1897G>T (p.Gly633Cys) c.1858G>T (p.Gly620Cys) c.1891G>T (p.Gly631Cys) c.1768G>T (p.Gly590Cys) | |
19 | g.41978021C>G | CA406045095 | ATP1A3 | c.1897G>C (p.Gly633Arg) c.1858G>C (p.Gly620Arg) c.1891G>C (p.Gly631Arg) c.1768G>C (p.Gly590Arg) | |
19 | g.41978021C>T | CA406045097 | ATP1A3 | c.1897G>A (p.Gly633Ser) c.1858G>A (p.Gly620Ser) c.1891G>A (p.Gly631Ser) c.1768G>A (p.Gly590Ser) | |
19 | g.41978022C>A | CA406045101 | ATP1A3 | c.1896G>T (p.Lys632Asn) c.1857G>T (p.Lys619Asn) c.1890G>T (p.Lys630Asn) c.1767G>T (p.Lys589Asn) | COSMIC |
19 | g.41978022C>G | CA406045099 | ATP1A3 | c.1896G>C (p.Lys632Asn) c.1857G>C (p.Lys619Asn) c.1890G>C (p.Lys630Asn) c.1767G>C (p.Lys589Asn) | |
19 | g.41978022C>T | CA507586661 | ATP1A3 | c.1896G>A (p.Lys632=) c.1857G>A (p.Lys619=) c.1890G>A (p.Lys630=) c.1767G>A (p.Lys589=) | |
19 | g.41978023T>A | CA406045103 | ATP1A3 | c.1895A>T (p.Lys632Met) c.1856A>T (p.Lys619Met) c.1889A>T (p.Lys630Met) c.1766A>T (p.Lys589Met) | |
19 | g.41978023T>C | CA406045105 | ATP1A3 | c.1895A>G (p.Lys632Arg) c.1856A>G (p.Lys619Arg) c.1889A>G (p.Lys630Arg) c.1766A>G (p.Lys589Arg) | |
19 | g.41978023T>G | CA406045107 | ATP1A3 | c.1895A>C (p.Lys632Thr) c.1856A>C (p.Lys619Thr) c.1889A>C (p.Lys630Thr) c.1766A>C (p.Lys589Thr) | |
19 | g.41978024T>A | CA406045109 | ATP1A3 | c.1894A>T (p.Lys632Ter) c.1855A>T (p.Lys619Ter) c.1888A>T (p.Lys630Ter) c.1765A>T (p.Lys589Ter) | |
19 | g.41978024T>C | CA406045111 | ATP1A3 | c.1894A>G (p.Lys632Glu) c.1855A>G (p.Lys619Glu) c.1888A>G (p.Lys630Glu) c.1765A>G (p.Lys589Glu) | |
19 | g.41978024T>G | CA406045113 | ATP1A3 | c.1894A>C (p.Lys632Gln) c.1855A>C (p.Lys619Gln) c.1888A>C (p.Lys630Gln) c.1765A>C (p.Lys589Gln) | |
19 | g.41978025G>A | CA507586671 | ATP1A3 | c.1893C>T (p.Ala631=) c.1854C>T (p.Ala618=) c.1887C>T (p.Ala629=) c.1764C>T (p.Ala588=) | ClinVar |
19 | g.41978025G>C | CA507586673 | ATP1A3 | c.1893C>G (p.Ala631=) c.1854C>G (p.Ala618=) c.1887C>G (p.Ala629=) c.1764C>G (p.Ala588=) | |
19 | g.41978025G>T | CA507586675 | ATP1A3 | c.1893C>A (p.Ala631=) c.1854C>A (p.Ala618=) c.1887C>A (p.Ala629=) c.1764C>A (p.Ala588=) | |
19 | g.41978026G>A | CA406045115 | ATP1A3 | c.1892C>T (p.Ala631Val) c.1853C>T (p.Ala618Val) c.1886C>T (p.Ala629Val) c.1763C>T (p.Ala588Val) | ClinVar |
19 | g.41978026G>C | CA406045120 | ATP1A3 | c.1892C>G (p.Ala631Gly) c.1853C>G (p.Ala618Gly) c.1886C>G (p.Ala629Gly) c.1763C>G (p.Ala588Gly) | |
19 | g.41978026G>T | CA406045121 | ATP1A3 | c.1892C>A (p.Ala631Asp) c.1853C>A (p.Ala618Asp) c.1886C>A (p.Ala629Asp) c.1763C>A (p.Ala588Asp) | ClinVar |
19 | g.41978027C>A | CA406045124 | ATP1A3 | c.1891G>T (p.Ala631Ser) c.1852G>T (p.Ala618Ser) c.1885G>T (p.Ala629Ser) c.1762G>T (p.Ala588Ser) | |
19 | g.41978027C>G | CA406045126 | ATP1A3 | c.1891G>C (p.Ala631Pro) c.1852G>C (p.Ala618Pro) c.1885G>C (p.Ala629Pro) c.1762G>C (p.Ala588Pro) | |
19 | g.41978027C>T | CA406045128 | ATP1A3 | c.1891G>A (p.Ala631Thr) c.1852G>A (p.Ala618Thr) c.1885G>A (p.Ala629Thr) c.1762G>A (p.Ala588Thr) | |
19 | g.41978028A= | CA2336724847 | ATP1A3 | c.1890T= (p.Ile630=) c.1851T= (p.Ile617=) c.1884T= (p.Ile628=) c.1761T= (p.Ile587=) | |
19 | g.41978028A>C | CA406045129 | ATP1A3 | c.1890T>G (p.Ile630Met) c.1851T>G (p.Ile617Met) c.1884T>G (p.Ile628Met) c.1761T>G (p.Ile587Met) | |
19 | g.41978028A>G | CA507586682 | ATP1A3 | c.1890T>C (p.Ile630=) c.1851T>C (p.Ile617=) c.1884T>C (p.Ile628=) c.1761T>C (p.Ile587=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978028A>T | CA507586683 | ATP1A3 | c.1890T>A (p.Ile630=) c.1851T>A (p.Ile617=) c.1884T>A (p.Ile628=) c.1761T>A (p.Ile587=) | |
19 | g.41978029A>C | CA406045131 | ATP1A3 | c.1889T>G (p.Ile630Ser) c.1850T>G (p.Ile617Ser) c.1883T>G (p.Ile628Ser) c.1760T>G (p.Ile587Ser) | |
19 | g.41978029A>G | CA406045134 | ATP1A3 | c.1889T>C (p.Ile630Thr) c.1850T>C (p.Ile617Thr) c.1883T>C (p.Ile628Thr) c.1760T>C (p.Ile587Thr) | |
19 | g.41978029A>T | CA406045130 | ATP1A3 | c.1889T>A (p.Ile630Asn) c.1850T>A (p.Ile617Asn) c.1883T>A (p.Ile628Asn) c.1760T>A (p.Ile587Asn) | |
19 | g.41978030T>A | CA406045140 | ATP1A3 | c.1888A>T (p.Ile630Phe) c.1849A>T (p.Ile617Phe) c.1882A>T (p.Ile628Phe) c.1759A>T (p.Ile587Phe) | |
19 | g.41978030T>C | CA406045137 | ATP1A3 | c.1888A>G (p.Ile630Val) c.1849A>G (p.Ile617Val) c.1882A>G (p.Ile628Val) c.1759A>G (p.Ile587Val) | |
19 | g.41978030T>G | CA406045138 | ATP1A3 | c.1888A>C (p.Ile630Leu) c.1849A>C (p.Ile617Leu) c.1882A>C (p.Ile628Leu) c.1759A>C (p.Ile587Leu) | |
19 | g.41978031G>A | CA507586694 | ATP1A3 | c.1887C>T (p.Ala629=) c.1848C>T (p.Ala616=) c.1881C>T (p.Ala627=) c.1758C>T (p.Ala586=) | |
19 | g.41978031G>C | CA507586693 | ATP1A3 | c.1887C>G (p.Ala629=) c.1848C>G (p.Ala616=) c.1881C>G (p.Ala627=) c.1758C>G (p.Ala586=) | |
19 | g.41978031G>T | CA507586690 | ATP1A3 | c.1887C>A (p.Ala629=) c.1848C>A (p.Ala616=) c.1881C>A (p.Ala627=) c.1758C>A (p.Ala586=) | |
19 | g.41978032G>A | CA406045142 | ATP1A3 | c.1886C>T (p.Ala629Val) c.1847C>T (p.Ala616Val) c.1880C>T (p.Ala627Val) c.1757C>T (p.Ala586Val) | COSMIC |
19 | g.41978032G>C | CA406045144 | ATP1A3 | c.1886C>G (p.Ala629Gly) c.1847C>G (p.Ala616Gly) c.1880C>G (p.Ala627Gly) c.1757C>G (p.Ala586Gly) | |
19 | g.41978032G>T | CA406045145 | ATP1A3 | c.1886C>A (p.Ala629Asp) c.1847C>A (p.Ala616Asp) c.1880C>A (p.Ala627Asp) c.1757C>A (p.Ala586Asp) | |
19 | g.41978033C>A | CA406045148 | ATP1A3 | c.1885G>T (p.Ala629Ser) c.1846G>T (p.Ala616Ser) c.1879G>T (p.Ala627Ser) c.1756G>T (p.Ala586Ser) | |
19 | g.41978033C>G | CA406045150 | ATP1A3 | c.1885G>C (p.Ala629Pro) c.1846G>C (p.Ala616Pro) c.1879G>C (p.Ala627Pro) c.1756G>C (p.Ala586Pro) | |
19 | g.41978033C>T | CA406045151 | ATP1A3 | c.1885G>A (p.Ala629Thr) c.1846G>A (p.Ala616Thr) c.1879G>A (p.Ala627Thr) c.1756G>A (p.Ala586Thr) | |
19 | g.41978034C>A | CA406045153 | ATP1A3 | c.1884G>T (p.Lys628Asn) c.1845G>T (p.Lys615Asn) c.1878G>T (p.Lys626Asn) c.1755G>T (p.Lys585Asn) | COSMIC |
19 | g.41978034C>G | CA406045155 | ATP1A3 | c.1884G>C (p.Lys628Asn) c.1845G>C (p.Lys615Asn) c.1878G>C (p.Lys626Asn) c.1755G>C (p.Lys585Asn) | |
19 | g.41978034C>T | CA507586707 | ATP1A3 | c.1884G>A (p.Lys628=) c.1845G>A (p.Lys615=) c.1878G>A (p.Lys626=) c.1755G>A (p.Lys585=) | |
19 | g.41978035T>A | CA406045157 | ATP1A3 | c.1883A>T (p.Lys628Met) c.1844A>T (p.Lys615Met) c.1877A>T (p.Lys626Met) c.1754A>T (p.Lys585Met) | |
19 | g.41978035T>C | CA406045158 | ATP1A3 | c.1883A>G (p.Lys628Arg) c.1844A>G (p.Lys615Arg) c.1877A>G (p.Lys626Arg) c.1754A>G (p.Lys585Arg) | |
19 | g.41978035T>G | CA406045160 | ATP1A3 | c.1883A>C (p.Lys628Thr) c.1844A>C (p.Lys615Thr) c.1877A>C (p.Lys626Thr) c.1754A>C (p.Lys585Thr) | |
19 | g.41978036T>A | CA406045168 | ATP1A3 | c.1882A>T (p.Lys628Ter) c.1843A>T (p.Lys615Ter) c.1876A>T (p.Lys626Ter) c.1753A>T (p.Lys585Ter) | |
19 | g.41978036T>C | CA406045163 | ATP1A3 | c.1882A>G (p.Lys628Glu) c.1843A>G (p.Lys615Glu) c.1876A>G (p.Lys626Glu) c.1753A>G (p.Lys585Glu) | ClinVar |
19 | g.41978036T>G | CA406045164 | ATP1A3 | c.1882A>C (p.Lys628Gln) c.1843A>C (p.Lys615Gln) c.1876A>C (p.Lys626Gln) c.1753A>C (p.Lys585Gln) | |
19 | g.41978037G>A | CA507586718 | ATP1A3 | c.1881C>T (p.Ala627=) c.1842C>T (p.Ala614=) c.1875C>T (p.Ala625=) c.1752C>T (p.Ala584=) | |
19 | g.41978037G>C | CA507586719 | ATP1A3 | c.1881C>G (p.Ala627=) c.1842C>G (p.Ala614=) c.1875C>G (p.Ala625=) c.1752C>G (p.Ala584=) | |
19 | g.41978037G>T | CA507586721 | ATP1A3 | c.1881C>A (p.Ala627=) c.1842C>A (p.Ala614=) c.1875C>A (p.Ala625=) c.1752C>A (p.Ala584=) | |
19 | g.41978038G>A | CA406045173 | ATP1A3 | c.1880C>T (p.Ala627Val) c.1841C>T (p.Ala614Val) c.1874C>T (p.Ala625Val) c.1751C>T (p.Ala584Val) | |
19 | g.41978038G>C | CA406045175 | ATP1A3 | c.1880C>G (p.Ala627Gly) c.1841C>G (p.Ala614Gly) c.1874C>G (p.Ala625Gly) c.1751C>G (p.Ala584Gly) | |
19 | g.41978038G>T | CA406045176 | ATP1A3 | c.1880C>A (p.Ala627Asp) c.1841C>A (p.Ala614Asp) c.1874C>A (p.Ala625Asp) c.1751C>A (p.Ala584Asp) | |
19 | g.41978039C>A | CA406045178 | ATP1A3 | c.1879G>T (p.Ala627Ser) c.1840G>T (p.Ala614Ser) c.1873G>T (p.Ala625Ser) c.1750G>T (p.Ala584Ser) | |
19 | g.41978039C>G | CA406045181 | ATP1A3 | c.1879G>C (p.Ala627Pro) c.1840G>C (p.Ala614Pro) c.1873G>C (p.Ala625Pro) c.1750G>C (p.Ala584Pro) | |
19 | g.41978039C>T | CA406045182 | ATP1A3 | c.1879G>A (p.Ala627Thr) c.1840G>A (p.Ala614Thr) c.1873G>A (p.Ala625Thr) c.1750G>A (p.Ala584Thr) | COSMIC |
19 | g.41978040C>A | CA507586735 | ATP1A3 | c.1878G>T (p.Thr626=) c.1839G>T (p.Thr613=) c.1872G>T (p.Thr624=) c.1749G>T (p.Thr583=) | |
19 | g.41978040C= | CA2336724848 | ATP1A3 | c.1878G= (p.Thr626=) c.1839G= (p.Thr613=) c.1872G= (p.Thr624=) c.1749G= (p.Thr583=) | |
19 | g.41978040C>G | CA507586737 | ATP1A3 | c.1878G>C (p.Thr626=) c.1839G>C (p.Thr613=) c.1872G>C (p.Thr624=) c.1749G>C (p.Thr583=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978040C>T | CA9467549 | ATP1A3 | c.1878G>A (p.Thr626=) c.1839G>A (p.Thr613=) c.1872G>A (p.Thr624=) c.1749G>A (p.Thr583=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41978041G>A | CA341233 | ATP1A3 | c.1877C>T (p.Thr626Met) c.1838C>T (p.Thr613Met) c.1871C>T (p.Thr624Met) c.1748C>T (p.Thr583Met) | ClinVar dbSNP COSMIC |
19 | g.41978041G>C | CA406045186 | ATP1A3 | c.1877C>G (p.Thr626Arg) c.1838C>G (p.Thr613Arg) c.1871C>G (p.Thr624Arg) c.1748C>G (p.Thr583Arg) | |
19 | g.41978041G= | CA2336724849 | ATP1A3 | c.1877C= (p.Thr626=) c.1838C= (p.Thr613=) c.1871C= (p.Thr624=) c.1748C= (p.Thr583=) | |
19 | g.41978041G>T | CA406045188 | ATP1A3 | c.1877C>A (p.Thr626Lys) c.1838C>A (p.Thr613Lys) c.1871C>A (p.Thr624Lys) c.1748C>A (p.Thr583Lys) | |
19 | g.41978042T>A | CA406045190 | ATP1A3 | c.1876A>T (p.Thr626Ser) c.1837A>T (p.Thr613Ser) c.1870A>T (p.Thr624Ser) c.1747A>T (p.Thr583Ser) | |
19 | g.41978042T>C | CA406045191 | ATP1A3 | c.1876A>G (p.Thr626Ala) c.1837A>G (p.Thr613Ala) c.1870A>G (p.Thr624Ala) c.1747A>G (p.Thr583Ala) | |
19 | g.41978042T>G | CA406045193 | ATP1A3 | c.1876A>C (p.Thr626Pro) c.1837A>C (p.Thr613Pro) c.1870A>C (p.Thr624Pro) c.1747A>C (p.Thr583Pro) | |
19 | g.41978043G>A | CA507586750 | ATP1A3 | c.1875C>T (p.Ile625=) c.1836C>T (p.Ile612=) c.1869C>T (p.Ile623=) c.1746C>T (p.Ile582=) | |
19 | g.41978043G>C | CA406045196 | ATP1A3 | c.1875C>G (p.Ile625Met) c.1836C>G (p.Ile612Met) c.1869C>G (p.Ile623Met) c.1746C>G (p.Ile582Met) | |
19 | g.41978043G>T | CA507586753 | ATP1A3 | c.1875C>A (p.Ile625=) c.1836C>A (p.Ile612=) c.1869C>A (p.Ile623=) c.1746C>A (p.Ile582=) | |
19 | g.41978044A>C | CA406045199 | ATP1A3 | c.1874T>G (p.Ile625Ser) c.1835T>G (p.Ile612Ser) c.1868T>G (p.Ile623Ser) c.1745T>G (p.Ile582Ser) | |
19 | g.41978044A>G | CA406045198 | ATP1A3 | c.1874T>C (p.Ile625Thr) c.1835T>C (p.Ile612Thr) c.1868T>C (p.Ile623Thr) c.1745T>C (p.Ile582Thr) | gnomAD v4 |
19 | g.41978044A>T | CA406045201 | ATP1A3 | c.1874T>A (p.Ile625Asn) c.1835T>A (p.Ile612Asn) c.1868T>A (p.Ile623Asn) c.1745T>A (p.Ile582Asn) | |
19 | g.41978045T>A | CA406045204 | ATP1A3 | c.1873A>T (p.Ile625Phe) c.1834A>T (p.Ile612Phe) c.1867A>T (p.Ile623Phe) c.1744A>T (p.Ile582Phe) | |
19 | g.41978045T>C | CA406045206 | ATP1A3 | c.1873A>G (p.Ile625Val) c.1834A>G (p.Ile612Val) c.1867A>G (p.Ile623Val) c.1744A>G (p.Ile582Val) | |
19 | g.41978045T>G | CA406045208 | ATP1A3 | c.1873A>C (p.Ile625Leu) c.1834A>C (p.Ile612Leu) c.1867A>C (p.Ile623Leu) c.1744A>C (p.Ile582Leu) | |
19 | g.41978046G>A | CA507586766 | ATP1A3 | c.1872C>T (p.Pro624=) c.1833C>T (p.Pro611=) c.1866C>T (p.Pro622=) c.1743C>T (p.Pro581=) | |
19 | g.41978046G>C | CA507586768 | ATP1A3 | c.1872C>G (p.Pro624=) c.1833C>G (p.Pro611=) c.1866C>G (p.Pro622=) c.1743C>G (p.Pro581=) | |
19 | g.41978046G= | CA2336724850 | ATP1A3 | c.1872C= (p.Pro624=) c.1833C= (p.Pro611=) c.1866C= (p.Pro622=) c.1743C= (p.Pro581=) | |
19 | g.41978046G>T | CA9467550 | ATP1A3 | c.1872C>A (p.Pro624=) c.1833C>A (p.Pro611=) c.1866C>A (p.Pro622=) c.1743C>A (p.Pro581=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978047G>A | CA406045212 | ATP1A3 | c.1871C>T (p.Pro624Leu) c.1832C>T (p.Pro611Leu) c.1865C>T (p.Pro622Leu) c.1742C>T (p.Pro581Leu) | |
19 | g.41978047G>C | CA406045214 | ATP1A3 | c.1871C>G (p.Pro624Arg) c.1832C>G (p.Pro611Arg) c.1865C>G (p.Pro622Arg) c.1742C>G (p.Pro581Arg) | |
19 | g.41978047G>T | CA406045215 | ATP1A3 | c.1871C>A (p.Pro624His) c.1832C>A (p.Pro611His) c.1865C>A (p.Pro622His) c.1742C>A (p.Pro581His) | |
19 | g.41978048G>A | CA406045217 | ATP1A3 | c.1870C>T (p.Pro624Ser) c.1831C>T (p.Pro611Ser) c.1864C>T (p.Pro622Ser) c.1741C>T (p.Pro581Ser) | |
19 | g.41978048G>C | CA406045221 | ATP1A3 | c.1870C>G (p.Pro624Ala) c.1831C>G (p.Pro611Ala) c.1864C>G (p.Pro622Ala) c.1741C>G (p.Pro581Ala) | |
19 | g.41978048G>T | CA406045223 | ATP1A3 | c.1870C>A (p.Pro624Thr) c.1831C>A (p.Pro611Thr) c.1864C>A (p.Pro622Thr) c.1741C>A (p.Pro581Thr) | |
19 | g.41978049G>A | CA507586779 | ATP1A3 | c.1869C>T (p.His623=) c.1830C>T (p.His610=) c.1863C>T (p.His621=) c.1740C>T (p.His580=) | ClinVar |
19 | g.41978049G>C | CA406045224 | ATP1A3 | c.1869C>G (p.His623Gln) c.1830C>G (p.His610Gln) c.1863C>G (p.His621Gln) c.1740C>G (p.His580Gln) | |
19 | g.41978049G>T | CA406045226 | ATP1A3 | c.1869C>A (p.His623Gln) c.1830C>A (p.His610Gln) c.1863C>A (p.His621Gln) c.1740C>A (p.His580Gln) | |
19 | g.41978050T>A | CA406045232 | ATP1A3 | c.1868A>T (p.His623Leu) c.1829A>T (p.His610Leu) c.1862A>T (p.His621Leu) c.1739A>T (p.His580Leu) | |
19 | g.41978050T>C | CA406045230 | ATP1A3 | c.1868A>G (p.His623Arg) c.1829A>G (p.His610Arg) c.1862A>G (p.His621Arg) c.1739A>G (p.His580Arg) | |
19 | g.41978050T>G | CA406045228 | ATP1A3 | c.1868A>C (p.His623Pro) c.1829A>C (p.His610Pro) c.1862A>C (p.His621Pro) c.1739A>C (p.His580Pro) | dbSNP |
19 | g.41978050T= | CA2336724851 | ATP1A3 | c.1868A= (p.His623=) c.1829A= (p.His610=) c.1862A= (p.His621=) c.1739A= (p.His580=) | |
19 | g.41978051G>A | CA406045234 | ATP1A3 | c.1867C>T (p.His623Tyr) c.1828C>T (p.His610Tyr) c.1861C>T (p.His621Tyr) c.1738C>T (p.His580Tyr) | |
19 | g.41978051G>C | CA406045235 | ATP1A3 | c.1867C>G (p.His623Asp) c.1828C>G (p.His610Asp) c.1861C>G (p.His621Asp) c.1738C>G (p.His580Asp) | |
19 | g.41978051G>T | CA406045237 | ATP1A3 | c.1867C>A (p.His623Asn) c.1828C>A (p.His610Asn) c.1861C>A (p.His621Asn) c.1738C>A (p.His580Asn) | |
19 | g.41978052A>C | CA406045239 | ATP1A3 | c.1866T>G (p.Asp622Glu) c.1827T>G (p.Asp609Glu) c.1860T>G (p.Asp620Glu) c.1737T>G (p.Asp579Glu) | |
19 | g.41978052A>G | CA507586788 | ATP1A3 | c.1866T>C (p.Asp622=) c.1827T>C (p.Asp609=) c.1860T>C (p.Asp620=) c.1737T>C (p.Asp579=) | |
19 | g.41978052A>T | CA406045241 | ATP1A3 | c.1866T>A (p.Asp622Glu) c.1827T>A (p.Asp609Glu) c.1860T>A (p.Asp620Glu) c.1737T>A (p.Asp579Glu) | |
19 | g.41978053T>A | CA406045243 | ATP1A3 | c.1865A>T (p.Asp622Val) c.1826A>T (p.Asp609Val) c.1859A>T (p.Asp620Val) c.1736A>T (p.Asp579Val) | |
19 | g.41978053T>C | CA406045245 | ATP1A3 | c.1865A>G (p.Asp622Gly) c.1826A>G (p.Asp609Gly) c.1859A>G (p.Asp620Gly) c.1736A>G (p.Asp579Gly) | |
19 | g.41978053T>G | CA406045246 | ATP1A3 | c.1865A>C (p.Asp622Ala) c.1826A>C (p.Asp609Ala) c.1859A>C (p.Asp620Ala) c.1736A>C (p.Asp579Ala) | |
19 | g.41978054C>A | CA406045249 | ATP1A3 | c.1864G>T (p.Asp622Tyr) c.1825G>T (p.Asp609Tyr) c.1858G>T (p.Asp620Tyr) c.1735G>T (p.Asp579Tyr) | ClinVar |
19 | g.41978054C= | CA2336724852 | ATP1A3 | c.1864G= (p.Asp622=) c.1825G= (p.Asp609=) c.1858G= (p.Asp620=) c.1735G= (p.Asp579=) | |
19 | g.41978054C>G | CA406045250 | ATP1A3 | c.1864G>C (p.Asp622His) c.1825G>C (p.Asp609His) c.1858G>C (p.Asp620His) c.1735G>C (p.Asp579His) | |
19 | g.41978054C>T | CA406045252 | ATP1A3 | c.1864G>A (p.Asp622Asn) c.1825G>A (p.Asp609Asn) c.1858G>A (p.Asp620Asn) c.1735G>A (p.Asp579Asn) | ClinVar dbSNP |
19 | g.41978055G>A | CA9467551 | ATP1A3 | c.1863C>T (p.Gly621=) c.1824C>T (p.Gly608=) c.1857C>T (p.Gly619=) c.1734C>T (p.Gly578=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978055G>C | CA507586798 | ATP1A3 | c.1863C>G (p.Gly621=) c.1824C>G (p.Gly608=) c.1857C>G (p.Gly619=) c.1734C>G (p.Gly578=) | |
19 | g.41978055G= | CA2336724853 | ATP1A3 | c.1863C= (p.Gly621=) c.1824C= (p.Gly608=) c.1857C= (p.Gly619=) c.1734C= (p.Gly578=) | |
19 | g.41978055G>T | CA507586797 | ATP1A3 | c.1863C>A (p.Gly621=) c.1824C>A (p.Gly608=) c.1857C>A (p.Gly619=) c.1734C>A (p.Gly578=) | |
19 | g.41978056C>A | CA406045254 | ATP1A3 | c.1862G>T (p.Gly621Val) c.1823G>T (p.Gly608Val) c.1856G>T (p.Gly619Val) c.1733G>T (p.Gly578Val) | |
19 | g.41978056C>G | CA406045258 | ATP1A3 | c.1862G>C (p.Gly621Ala) c.1823G>C (p.Gly608Ala) c.1856G>C (p.Gly619Ala) c.1733G>C (p.Gly578Ala) | |
19 | g.41978056C>T | CA406045256 | ATP1A3 | c.1862G>A (p.Gly621Asp) c.1823G>A (p.Gly608Asp) c.1856G>A (p.Gly619Asp) c.1733G>A (p.Gly578Asp) | |
19 | g.41978057C>A | CA406045260 | ATP1A3 | c.1861G>T (p.Gly621Cys) c.1822G>T (p.Gly608Cys) c.1855G>T (p.Gly619Cys) c.1732G>T (p.Gly578Cys) | |
19 | g.41978057C>G | CA406045262 | ATP1A3 | c.1861G>C (p.Gly621Arg) c.1822G>C (p.Gly608Arg) c.1855G>C (p.Gly619Arg) c.1732G>C (p.Gly578Arg) | |
19 | g.41978057C>T | CA406045264 | ATP1A3 | c.1861G>A (p.Gly621Ser) c.1822G>A (p.Gly608Ser) c.1855G>A (p.Gly619Ser) c.1732G>A (p.Gly578Ser) | |
19 | g.41978058G>A | CA9467552 | ATP1A3 | c.1860C>T (p.Thr620=) c.1821C>T (p.Thr607=) c.1854C>T (p.Thr618=) c.1731C>T (p.Thr577=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978058G>C | CA507586809 | ATP1A3 | c.1860C>G (p.Thr620=) c.1821C>G (p.Thr607=) c.1854C>G (p.Thr618=) c.1731C>G (p.Thr577=) | |
19 | g.41978058G= | CA2336724854 | ATP1A3 | c.1860C= (p.Thr620=) c.1821C= (p.Thr607=) c.1854C= (p.Thr618=) c.1731C= (p.Thr577=) | |
19 | g.41978058G>T | CA9467553 | ATP1A3 | c.1860C>A (p.Thr620=) c.1821C>A (p.Thr607=) c.1854C>A (p.Thr618=) c.1731C>A (p.Thr577=) | dbSNP ExAC gnomAD v2 |
19 | g.41978059G>A | CA406045268 | ATP1A3 | c.1859C>T (p.Thr620Ile) c.1820C>T (p.Thr607Ile) c.1853C>T (p.Thr618Ile) c.1730C>T (p.Thr577Ile) | ClinVar dbSNP |
19 | g.41978059G>C | CA406045266 | ATP1A3 | c.1859C>G (p.Thr620Ser) c.1820C>G (p.Thr607Ser) c.1853C>G (p.Thr618Ser) c.1730C>G (p.Thr577Ser) | |
19 | g.41978059G>T | CA406045265 | ATP1A3 | c.1859C>A (p.Thr620Asn) c.1820C>A (p.Thr607Asn) c.1853C>A (p.Thr618Asn) c.1730C>A (p.Thr577Asn) | |
19 | g.41978060T>A | CA406045270 | ATP1A3 | c.1858A>T (p.Thr620Ser) c.1819A>T (p.Thr607Ser) c.1852A>T (p.Thr618Ser) c.1729A>T (p.Thr577Ser) | |
19 | g.41978060T>C | CA406045272 | ATP1A3 | c.1858A>G (p.Thr620Ala) c.1819A>G (p.Thr607Ala) c.1852A>G (p.Thr618Ala) c.1729A>G (p.Thr577Ala) | |
19 | g.41978060T>G | CA406045273 | ATP1A3 | c.1858A>C (p.Thr620Pro) c.1819A>C (p.Thr607Pro) c.1852A>C (p.Thr618Pro) c.1729A>C (p.Thr577Pro) | |
19 | g.41978061G>A | CA507586818 | ATP1A3 | c.1857C>T (p.Val619=) c.1818C>T (p.Val606=) c.1851C>T (p.Val617=) c.1728C>T (p.Val576=) | |
19 | g.41978061G>C | CA507586820 | ATP1A3 | c.1857C>G (p.Val619=) c.1818C>G (p.Val606=) c.1851C>G (p.Val617=) c.1728C>G (p.Val576=) | |
19 | g.41978061G>T | CA507586822 | ATP1A3 | c.1857C>A (p.Val619=) c.1818C>A (p.Val606=) c.1851C>A (p.Val617=) c.1728C>A (p.Val576=) | |
19 | g.41978062A>C | CA406045274 | ATP1A3 | c.1856T>G (p.Val619Gly) c.1817T>G (p.Val606Gly) c.1850T>G (p.Val617Gly) c.1727T>G (p.Val576Gly) | |
19 | g.41978062A>G | CA406045276 | ATP1A3 | c.1856T>C (p.Val619Ala) c.1817T>C (p.Val606Ala) c.1850T>C (p.Val617Ala) c.1727T>C (p.Val576Ala) | |
19 | g.41978062A>T | CA406045278 | ATP1A3 | c.1856T>A (p.Val619Asp) c.1817T>A (p.Val606Asp) c.1850T>A (p.Val617Asp) c.1727T>A (p.Val576Asp) | |
19 | g.41978063C>A | CA406045287 | ATP1A3 | c.1855G>T (p.Val619Phe) c.1816G>T (p.Val606Phe) c.1849G>T (p.Val617Phe) c.1726G>T (p.Val576Phe) | |
19 | g.41978063C>G | CA406045284 | ATP1A3 | c.1855G>C (p.Val619Leu) c.1816G>C (p.Val606Leu) c.1849G>C (p.Val617Leu) c.1726G>C (p.Val576Leu) | |
19 | g.41978063C>T | CA406045286 | ATP1A3 | c.1855G>A (p.Val619Ile) c.1816G>A (p.Val606Ile) c.1849G>A (p.Val617Ile) c.1726G>A (p.Val576Ile) | |
19 | g.41978064C>A | CA406045289 | ATP1A3 | c.1854G>T (p.Met618Ile) c.1815G>T (p.Met605Ile) c.1848G>T (p.Met616Ile) c.1725G>T (p.Met575Ile) | |
19 | g.41978064C>G | CA406045291 | ATP1A3 | c.1854G>C (p.Met618Ile) c.1815G>C (p.Met605Ile) c.1848G>C (p.Met616Ile) c.1725G>C (p.Met575Ile) | |
19 | g.41978064C>T | CA406045293 | ATP1A3 | c.1854G>A (p.Met618Ile) c.1815G>A (p.Met605Ile) c.1848G>A (p.Met616Ile) c.1725G>A (p.Met575Ile) | |
19 | g.41978065A>C | CA406045295 | ATP1A3 | c.1853T>G (p.Met618Arg) c.1814T>G (p.Met605Arg) c.1847T>G (p.Met616Arg) c.1724T>G (p.Met575Arg) | |
19 | g.41978065A>G | CA406045296 | ATP1A3 | c.1853T>C (p.Met618Thr) c.1814T>C (p.Met605Thr) c.1847T>C (p.Met616Thr) c.1724T>C (p.Met575Thr) | |
19 | g.41978065A>T | CA406045298 | ATP1A3 | c.1853T>A (p.Met618Lys) c.1814T>A (p.Met605Lys) c.1847T>A (p.Met616Lys) c.1724T>A (p.Met575Lys) | |
19 | g.41978066T>A | CA406045302 | ATP1A3 | c.1852A>T (p.Met618Leu) c.1813A>T (p.Met605Leu) c.1846A>T (p.Met616Leu) c.1723A>T (p.Met575Leu) | |
19 | g.41978066T>C | CA406045304 | ATP1A3 | c.1852A>G (p.Met618Val) c.1813A>G (p.Met605Val) c.1846A>G (p.Met616Val) c.1723A>G (p.Met575Val) | |
19 | g.41978066T>G | CA406045306 | ATP1A3 | c.1852A>C (p.Met618Leu) c.1813A>C (p.Met605Leu) c.1846A>C (p.Met616Leu) c.1723A>C (p.Met575Leu) | |
19 | g.41978067G>A | CA507586842 | ATP1A3 | c.1851C>T (p.Ile617=) c.1812C>T (p.Ile604=) c.1845C>T (p.Ile615=) c.1722C>T (p.Ile574=) | COSMIC |
19 | g.41978067G>C | CA406045308 | ATP1A3 | c.1851C>G (p.Ile617Met) c.1812C>G (p.Ile604Met) c.1845C>G (p.Ile615Met) c.1722C>G (p.Ile574Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978067G= | CA2336724855 | ATP1A3 | c.1851C= (p.Ile617=) c.1812C= (p.Ile604=) c.1845C= (p.Ile615=) c.1722C= (p.Ile574=) | |
19 | g.41978067G>T | CA507586844 | ATP1A3 | c.1851C>A (p.Ile617=) c.1812C>A (p.Ile604=) c.1845C>A (p.Ile615=) c.1722C>A (p.Ile574=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41978068A>C | CA406045309 | ATP1A3 | c.1850T>G (p.Ile617Ser) c.1811T>G (p.Ile604Ser) c.1844T>G (p.Ile615Ser) c.1721T>G (p.Ile574Ser) | |
19 | g.41978068A>G | CA406045311 | ATP1A3 | c.1850T>C (p.Ile617Thr) c.1811T>C (p.Ile604Thr) c.1844T>C (p.Ile615Thr) c.1721T>C (p.Ile574Thr) | |
19 | g.41978068A>T | CA406045313 | ATP1A3 | c.1850T>A (p.Ile617Asn) c.1811T>A (p.Ile604Asn) c.1844T>A (p.Ile615Asn) c.1721T>A (p.Ile574Asn) | |
19 | g.41978069T>A | CA406045315 | ATP1A3 | c.1849A>T (p.Ile617Phe) c.1810A>T (p.Ile604Phe) c.1843A>T (p.Ile615Phe) c.1720A>T (p.Ile574Phe) | |
19 | g.41978069T>C | CA406045319 | ATP1A3 | c.1849A>G (p.Ile617Val) c.1810A>G (p.Ile604Val) c.1843A>G (p.Ile615Val) c.1720A>G (p.Ile574Val) | |
19 | g.41978069T>G | CA406045317 | ATP1A3 | c.1849A>C (p.Ile617Leu) c.1810A>C (p.Ile604Leu) c.1843A>C (p.Ile615Leu) c.1720A>C (p.Ile574Leu) | gnomAD v4 |
19 | g.41978070G>A | CA507586851 | ATP1A3 | c.1848C>T (p.Val616=) c.1809C>T (p.Val603=) c.1842C>T (p.Val614=) c.1719C>T (p.Val573=) | |
19 | g.41978070G>C | CA507586864 | ATP1A3 | c.1848C>G (p.Val616=) c.1809C>G (p.Val603=) c.1842C>G (p.Val614=) c.1719C>G (p.Val573=) | |
19 | g.41978070G>T | CA507586867 | ATP1A3 | c.1848C>A (p.Val616=) c.1809C>A (p.Val603=) c.1842C>A (p.Val614=) c.1719C>A (p.Val573=) | |
19 | g.41978071A>C | CA406045320 | ATP1A3 | c.1847T>G (p.Val616Gly) c.1808T>G (p.Val603Gly) c.1841T>G (p.Val614Gly) c.1718T>G (p.Val573Gly) | |
19 | g.41978071A>G | CA406045322 | ATP1A3 | c.1847T>C (p.Val616Ala) c.1808T>C (p.Val603Ala) c.1841T>C (p.Val614Ala) c.1718T>C (p.Val573Ala) | |
19 | g.41978071A>T | CA406045323 | ATP1A3 | c.1847T>A (p.Val616Asp) c.1808T>A (p.Val603Asp) c.1841T>A (p.Val614Asp) c.1718T>A (p.Val573Asp) | |
19 | g.41978072C>A | CA406045325 | ATP1A3 | c.1846G>T (p.Val616Phe) c.1807G>T (p.Val603Phe) c.1840G>T (p.Val614Phe) c.1717G>T (p.Val573Phe) | |
19 | g.41978072C= | CA2336724856 | ATP1A3 | c.1846G= (p.Val616=) c.1807G= (p.Val603=) c.1840G= (p.Val614=) c.1717G= (p.Val573=) | |
19 | g.41978072C>G | CA406045327 | ATP1A3 | c.1846G>C (p.Val616Leu) c.1807G>C (p.Val603Leu) c.1840G>C (p.Val614Leu) c.1717G>C (p.Val573Leu) | |
19 | g.41978072C>T | CA406045329 | ATP1A3 | c.1846G>A (p.Val616Ile) c.1807G>A (p.Val603Ile) c.1840G>A (p.Val614Ile) c.1717G>A (p.Val573Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41978073C>A | CA406045331 | ATP1A3 | c.1846-1G>T (n.1846-1G>T) c.1807-1G>T (n.1807-1G>T) c.1840-1G>T (n.1840-1G>T) c.1717-1G>T (n.1717-1G>T) | COSMIC |
19 | g.41978073C>G | CA406045332 | ATP1A3 | c.1846-1G>C (n.1846-1G>C) c.1807-1G>C (n.1807-1G>C) c.1840-1G>C (n.1840-1G>C) c.1717-1G>C (n.1717-1G>C) | |
19 | g.41978073C>T | CA406045334 | ATP1A3 | c.1846-1G>A (n.1846-1G>A) c.1807-1G>A (n.1807-1G>A) c.1840-1G>A (n.1840-1G>A) c.1717-1G>A (n.1717-1G>A) | |
19 | g.41978074T>A | CA406045337 | ATP1A3 | c.1846-2A>T (n.1846-2A>T) c.1807-2A>T (n.1807-2A>T) c.1840-2A>T (n.1840-2A>T) c.1717-2A>T (n.1717-2A>T) | ClinVar gnomAD v4 |
19 | g.41978074T>C | CA406045338 | ATP1A3 | c.1846-2A>G (n.1846-2A>G) c.1807-2A>G (n.1807-2A>G) c.1840-2A>G (n.1840-2A>G) c.1717-2A>G (n.1717-2A>G) | ClinVar |
19 | g.41978074T>G | CA406045341 | ATP1A3 | c.1846-2A>C (n.1846-2A>C) c.1807-2A>C (n.1807-2A>C) c.1840-2A>C (n.1840-2A>C) c.1717-2A>C (n.1717-2A>C) | gnomAD v4 |
19 | g.41978075G>A | CA2814442096 | ATP1A3 | c.1846-3C>T (n.1846-3C>T) c.1807-3C>T (n.1807-3C>T) c.1840-3C>T (n.1840-3C>T) c.1717-3C>T (n.1717-3C>T) | |
19 | g.41978075G>T | CA2576797157 | ATP1A3 | c.1846-3C>A (n.1846-3C>A) c.1807-3C>A (n.1807-3C>A) c.1840-3C>A (n.1840-3C>A) c.1717-3C>A (n.1717-3C>A) | |
19 | g.41978076C= | CA2336724857 | ATP1A3 | c.1846-4G= (n.1846-4G=) c.1807-4G= (n.1807-4G=) c.1840-4G= (n.1840-4G=) c.1717-4G= (n.1717-4G=) | |
19 | g.41978076C>T | CA9467554 | ATP1A3 | c.1846-4G>A (n.1846-4G>A) c.1807-4G>A (n.1807-4G>A) c.1840-4G>A (n.1840-4G>A) c.1717-4G>A (n.1717-4G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41978077A>G | CA2573156406 | ATP1A3 | c.1846-5T>C (n.1846-5T>C) c.1807-5T>C (n.1807-5T>C) c.1840-5T>C (n.1840-5T>C) c.1717-5T>C (n.1717-5T>C) | ClinVar dbSNP |
19 | g.41978079G>A | CA2585369515 | ATP1A3 | c.1846-7C>T (n.1846-7C>T) c.1807-7C>T (n.1807-7C>T) c.1840-7C>T (n.1840-7C>T) c.1717-7C>T (n.1717-7C>T) | gnomAD v4 |
19 | g.41978079G>T | CA2697556597 | ATP1A3 | c.1846-7C>A (n.1846-7C>A) c.1807-7C>A (n.1807-7C>A) c.1840-7C>A (n.1840-7C>A) c.1717-7C>A (n.1717-7C>A) | ClinVar |
19 | g.41978080C>G | CA2814442097 | ATP1A3 | c.1846-8G>C (n.1846-8G>C) c.1807-8G>C (n.1807-8G>C) c.1840-8G>C (n.1840-8G>C) c.1717-8G>C (n.1717-8G>C) | |
19 | g.41978081A>G | CA2573054777 | ATP1A3 | c.1846-9T>C (n.1846-9T>C) c.1807-9T>C (n.1807-9T>C) c.1840-9T>C (n.1840-9T>C) c.1717-9T>C (n.1717-9T>C) | ClinVar dbSNP |
19 | g.41978082_41978083insCA | CA2529608796 | ATP1A3 | c.1846-11_1846-10insTG (n.1846-11_1846-10insTG) c.1807-11_1807-10insTG (n.1807-11_1807-10insTG) c.1840-11_1840-10insTG (n.1840-11_1840-10insTG) c.1717-11_1717-10insTG (n.1717-11_1717-10insTG) | |
19 | g.41978083T>A | CA882387276 | ATP1A3 | c.1846-11A>T (n.1846-11A>T) c.1807-11A>T (n.1807-11A>T) c.1840-11A>T (n.1840-11A>T) c.1717-11A>T (n.1717-11A>T) | dbSNP |
19 | g.41978083T= | CA2336724858 | ATP1A3 | c.1846-11A= (n.1846-11A=) c.1807-11A= (n.1807-11A=) c.1840-11A= (n.1840-11A=) c.1717-11A= (n.1717-11A=) | |
19 | g.41978084G>A | CA2576797158 | ATP1A3 | c.1846-12C>T (n.1846-12C>T) c.1807-12C>T (n.1807-12C>T) c.1840-12C>T (n.1840-12C>T) c.1717-12C>T (n.1717-12C>T) | gnomAD v4 |
19 | g.41978085T>C | CA2336724860 | ATP1A3 | c.1846-13A>G (n.1846-13A>G) c.1807-13A>G (n.1807-13A>G) c.1840-13A>G (n.1840-13A>G) c.1717-13A>G (n.1717-13A>G) | dbSNP |
19 | g.41978085T= | CA2336724859 | ATP1A3 | c.1846-13A= (n.1846-13A=) c.1807-13A= (n.1807-13A=) c.1840-13A= (n.1840-13A=) c.1717-13A= (n.1717-13A=) | |
19 | g.41978085_41978091del | CA2517922193 | ATP1A3 | c.1846-19_1846-13del (n.1846-19_1846-13del) c.1807-19_1807-13del (n.1807-19_1807-13del) c.1840-19_1840-13del (n.1840-19_1840-13del) c.1717-19_1717-13del (n.1717-19_1717-13del) | |
19 | g.41978086T>A | CA2580097320 | ATP1A3 | c.1846-14A>T (n.1846-14A>T) c.1807-14A>T (n.1807-14A>T) c.1840-14A>T (n.1840-14A>T) c.1717-14A>T (n.1717-14A>T) | ClinVar |
19 | g.41978086T>C | CA2585369516 | ATP1A3 | c.1846-14A>G (n.1846-14A>G) c.1807-14A>G (n.1807-14A>G) c.1840-14A>G (n.1840-14A>G) c.1717-14A>G (n.1717-14A>G) | gnomAD v4 |
19 | g.41978086T>G | CA633185052 | ATP1A3 | c.1846-14A>C (n.1846-14A>C) c.1807-14A>C (n.1807-14A>C) c.1840-14A>C (n.1840-14A>C) c.1717-14A>C (n.1717-14A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978086T= | CA2336724861 | ATP1A3 | c.1846-14A= (n.1846-14A=) c.1807-14A= (n.1807-14A=) c.1840-14A= (n.1840-14A=) c.1717-14A= (n.1717-14A=) | |
19 | g.41978091A= | CA2336724862 | ATP1A3 | c.1846-19T= (n.1846-19T=) c.1807-19T= (n.1807-19T=) c.1840-19T= (n.1840-19T=) c.1717-19T= (n.1717-19T=) | |
19 | g.41978091A>G | CA9467555 | ATP1A3 | c.1846-19T>C (n.1846-19T>C) c.1807-19T>C (n.1807-19T>C) c.1840-19T>C (n.1840-19T>C) c.1717-19T>C (n.1717-19T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978092G>C | CA2536504471 | ATP1A3 | c.1846-20C>G (n.1846-20C>G) c.1807-20C>G (n.1807-20C>G) c.1840-20C>G (n.1840-20C>G) c.1717-20C>G (n.1717-20C>G) | |
19 | g.41978092_41978096delinsGGGAT | CA2336724863 | ATP1A3 | c.1846-24_1846-20delinsATCCC (n.1846-24_1846-20delinsATCCC) c.1807-24_1807-20delinsATCCC (n.1807-24_1807-20delinsATCCC) c.1840-24_1840-20delinsATCCC (n.1840-24_1840-20delinsATCCC) c.1717-24_1717-20delinsATCCC (n.1717-24_1717-20delinsATCCC) | |
19 | g.41978095_41978098del | CA633185053 | ATP1A3 | c.1846-24_1846-21del (n.1846-24_1846-21del) c.1807-24_1807-21del (n.1807-24_1807-21del) c.1840-24_1840-21del (n.1840-24_1840-21del) c.1717-24_1717-21del (n.1717-24_1717-21del) | dbSNP gnomAD v2 |
19 | g.41978094G>A | CA2814442098 | ATP1A3 | c.1846-22C>T (n.1846-22C>T) c.1807-22C>T (n.1807-22C>T) c.1840-22C>T (n.1840-22C>T) c.1717-22C>T (n.1717-22C>T) | |
19 | g.41978094G>C | CA9467556 | ATP1A3 | c.1846-22C>G (n.1846-22C>G) c.1807-22C>G (n.1807-22C>G) c.1840-22C>G (n.1840-22C>G) c.1717-22C>G (n.1717-22C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41978094G= | CA2336724864 | ATP1A3 | c.1846-22C= (n.1846-22C=) c.1807-22C= (n.1807-22C=) c.1840-22C= (n.1840-22C=) c.1717-22C= (n.1717-22C=) | |
19 | g.41978095_41978096insAA | CA2523951983 | ATP1A3 | c.1846-23_1846-22insTT (n.1846-23_1846-22insTT) c.1807-23_1807-22insTT (n.1807-23_1807-22insTT) c.1840-23_1840-22insTT (n.1840-23_1840-22insTT) c.1717-23_1717-22insTT (n.1717-23_1717-22insTT) | |
19 | g.41978096T>C | CA2585369517 | ATP1A3 | c.1846-24A>G (n.1846-24A>G) c.1807-24A>G (n.1807-24A>G) c.1840-24A>G (n.1840-24A>G) c.1717-24A>G (n.1717-24A>G) | gnomAD v4 |
19 | g.41978097G>A | CA9467557 | ATP1A3 | c.1846-25C>T (n.1846-25C>T) c.1807-25C>T (n.1807-25C>T) c.1840-25C>T (n.1840-25C>T) c.1717-25C>T (n.1717-25C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41978097G= | CA2336724865 | ATP1A3 | c.1846-25C= (n.1846-25C=) c.1807-25C= (n.1807-25C=) c.1840-25C= (n.1840-25C=) c.1717-25C= (n.1717-25C=) | |
19 | g.41978098G>T | CA657436809 | ATP1A3 | c.1846-26C>A (n.1846-26C>A) c.1807-26C>A (n.1807-26C>A) c.1840-26C>A (n.1840-26C>A) c.1717-26C>A (n.1717-26C>A) | COSMIC |
19 | g.41978099C= | CA2336724866 | ATP1A3 | c.1846-27G= (n.1846-27G=) c.1807-27G= (n.1807-27G=) c.1840-27G= (n.1840-27G=) c.1717-27G= (n.1717-27G=) | |
19 | g.41978099C>G | CA2336724867 | ATP1A3 | c.1846-27G>C (n.1846-27G>C) c.1807-27G>C (n.1807-27G>C) c.1840-27G>C (n.1840-27G>C) c.1717-27G>C (n.1717-27G>C) | dbSNP |
19 | g.41978100del | CA2516327054 | ATP1A3 | c.1846-27del (n.1846-27del) c.1807-27del (n.1807-27del) c.1840-27del (n.1840-27del) c.1717-27del (n.1717-27del) | |
19 | g.41978100C>T | CA2522417920 | ATP1A3 | c.1846-28G>A (n.1846-28G>A) c.1807-28G>A (n.1807-28G>A) c.1840-28G>A (n.1840-28G>A) c.1717-28G>A (n.1717-28G>A) | |
19 | g.41978101T>C | CA2336724869 | ATP1A3 | c.1846-29A>G (n.1846-29A>G) c.1807-29A>G (n.1807-29A>G) c.1840-29A>G (n.1840-29A>G) c.1717-29A>G (n.1717-29A>G) | dbSNP |
19 | g.41978101T= | CA2336724868 | ATP1A3 | c.1846-29A= (n.1846-29A=) c.1807-29A= (n.1807-29A=) c.1840-29A= (n.1840-29A=) c.1717-29A= (n.1717-29A=) | |
19 | g.41978103T>G | CA2336724870 | ATP1A3 | c.1846-31A>C (n.1846-31A>C) c.1807-31A>C (n.1807-31A>C) c.1840-31A>C (n.1840-31A>C) c.1717-31A>C (n.1717-31A>C) | dbSNP |
19 | g.41978103T= | CA2336724871 | ATP1A3 | c.1846-31A= (n.1846-31A=) c.1807-31A= (n.1807-31A=) c.1840-31A= (n.1840-31A=) c.1717-31A= (n.1717-31A=) | |
19 | g.41978104_41978106del | CA2557501949 | ATP1A3 | c.1846-34_1846-32del (n.1846-34_1846-32del) c.1807-34_1807-32del (n.1807-34_1807-32del) c.1840-34_1840-32del (n.1840-34_1840-32del) c.1717-34_1717-32del (n.1717-34_1717-32del) | |
19 | g.41978106C>A | CA2576797159 | ATP1A3 | c.1846-34G>T (n.1846-34G>T) c.1807-34G>T (n.1807-34G>T) c.1840-34G>T (n.1840-34G>T) c.1717-34G>T (n.1717-34G>T) | |
19 | g.41978106C= | CA2336724872 | ATP1A3 | c.1846-34G= (n.1846-34G=) c.1807-34G= (n.1807-34G=) c.1840-34G= (n.1840-34G=) c.1717-34G= (n.1717-34G=) | |
19 | g.41978106C>T | CA9467558 | ATP1A3 | c.1846-34G>A (n.1846-34G>A) c.1807-34G>A (n.1807-34G>A) c.1840-34G>A (n.1840-34G>A) c.1717-34G>A (n.1717-34G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978107G>A | CA9467559 | ATP1A3 | c.1846-35C>T (n.1846-35C>T) c.1807-35C>T (n.1807-35C>T) c.1840-35C>T (n.1840-35C>T) c.1717-35C>T (n.1717-35C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978107G>C | CA2585369518 | ATP1A3 | c.1846-35C>G (n.1846-35C>G) c.1807-35C>G (n.1807-35C>G) c.1840-35C>G (n.1840-35C>G) c.1717-35C>G (n.1717-35C>G) | gnomAD v4 |
19 | g.41978107G= | CA2336724873 | ATP1A3 | c.1846-35C= (n.1846-35C=) c.1807-35C= (n.1807-35C=) c.1840-35C= (n.1840-35C=) c.1717-35C= (n.1717-35C=) | |
19 | g.41978109C= | CA2336724874 | ATP1A3 | c.1846-37G= (n.1846-37G=) c.1807-37G= (n.1807-37G=) c.1840-37G= (n.1840-37G=) c.1717-37G= (n.1717-37G=) | |
19 | g.41978109C>T | CA633185054 | ATP1A3 | c.1846-37G>A (n.1846-37G>A) c.1807-37G>A (n.1807-37G>A) c.1840-37G>A (n.1840-37G>A) c.1717-37G>A (n.1717-37G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41978110C>T | CA2499584575 | ATP1A3 | c.1846-38G>A (n.1846-38G>A) c.1807-38G>A (n.1807-38G>A) c.1840-38G>A (n.1840-38G>A) c.1717-38G>A (n.1717-38G>A) |