Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.63408413_63408444delinsCTGCTTCTCCACCTTCCCGAGCCGTCCCATCA | CA2374775193 | KCNQ2 | c.1910_1941delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met637=) c.1856_1887delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met619=) n.41_72delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG c.1253_1284delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met418=) n.12_43delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG c.1763_1794delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met588=) c.1424_1455delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met475=) c.1772_1803delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met591=) c.1880_1911delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met627=) c.1844_1875delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met615=) c.1802_1833delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met601=) c.1679+5006_1679+5037delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (n.1679+5006_1679+5037delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG) c.1898_1929delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met633=) c.1964_1995delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met655=) c.1961_1992delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met654=) c.1934_1965delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met645=) c.1853_1884delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met618=) c.1838_1869delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met613=) c.1445_1476delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met482=) c.1907_1938delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met636=) c.1841_1872delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met614=) c.1799_1830delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met600=) c.872_903delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met291=) | |
20 | g.63408418_63408448del | CA10654778 | KCNQ2 | c.1910_1940del (p.Met637ArgfsTer13) c.1856_1886del (p.Met619ArgfsTer13) n.41_71del c.1253_1283del (p.Met418ArgfsTer13) n.12_42del c.1763_1793del (p.Met588ArgfsTer13) c.1424_1454del (p.Met475ArgfsTer13) c.1772_1802del (p.Met591ArgfsTer13) c.1880_1910del (p.Met627ArgfsTer13) c.1844_1874del (p.Met615ArgfsTer13) c.1802_1832del (p.Met601ArgfsTer13) c.1679+5006_1679+5036del (n.1679+5006_1679+5036del) c.1898_1928del (p.Met633ArgfsTer13) c.1964_1994del (p.Met655ArgfsTer13) c.1961_1991del (p.Met654ArgfsTer13) c.1934_1964del (p.Met645ArgfsTer13) c.1853_1883del (p.Met618ArgfsTer13) c.1838_1868del (p.Met613ArgfsTer13) c.1445_1475del (p.Met482ArgfsTer13) c.1964_1994del (p.Met655ArgfsTer21) c.1907_1937del (p.Met636ArgfsTer13) c.1841_1871del (p.Met614ArgfsTer13) c.1799_1829del (p.Met600ArgfsTer13) c.872_902del (p.Met291ArgfsTer13) | ClinVar dbSNP |
20 | g.63408444A>C | CA409640261 | KCNQ2 | c.1910T>G (p.Met637Arg) c.1856T>G (p.Met619Arg) n.41T>G c.1253T>G (p.Met418Arg) n.12T>G c.1763T>G (p.Met588Arg) c.1424T>G (p.Met475Arg) c.1772T>G (p.Met591Arg) c.1880T>G (p.Met627Arg) c.1844T>G (p.Met615Arg) c.1802T>G (p.Met601Arg) c.1679+5006T>G (n.1679+5006T>G) c.1898T>G (p.Met633Arg) c.1964T>G (p.Met655Arg) c.1961T>G (p.Met654Arg) c.1934T>G (p.Met645Arg) c.1853T>G (p.Met618Arg) c.1838T>G (p.Met613Arg) c.1445T>G (p.Met482Arg) c.1907T>G (p.Met636Arg) c.1841T>G (p.Met614Arg) c.1799T>G (p.Met600Arg) c.872T>G (p.Met291Arg) | gnomAD v4 |
20 | g.63408444A>G | CA409640263 | KCNQ2 | c.1910T>C (p.Met637Thr) c.1856T>C (p.Met619Thr) n.41T>C c.1253T>C (p.Met418Thr) n.12T>C c.1763T>C (p.Met588Thr) c.1424T>C (p.Met475Thr) c.1772T>C (p.Met591Thr) c.1880T>C (p.Met627Thr) c.1844T>C (p.Met615Thr) c.1802T>C (p.Met601Thr) c.1679+5006T>C (n.1679+5006T>C) c.1898T>C (p.Met633Thr) c.1964T>C (p.Met655Thr) c.1961T>C (p.Met654Thr) c.1934T>C (p.Met645Thr) c.1853T>C (p.Met618Thr) c.1838T>C (p.Met613Thr) c.1445T>C (p.Met482Thr) c.1907T>C (p.Met636Thr) c.1841T>C (p.Met614Thr) c.1799T>C (p.Met600Thr) c.872T>C (p.Met291Thr) | |
20 | g.63408444A>T | CA409640262 | KCNQ2 | c.1910T>A (p.Met637Lys) c.1856T>A (p.Met619Lys) n.41T>A c.1253T>A (p.Met418Lys) n.12T>A c.1763T>A (p.Met588Lys) c.1424T>A (p.Met475Lys) c.1772T>A (p.Met591Lys) c.1880T>A (p.Met627Lys) c.1844T>A (p.Met615Lys) c.1802T>A (p.Met601Lys) c.1679+5006T>A (n.1679+5006T>A) c.1898T>A (p.Met633Lys) c.1964T>A (p.Met655Lys) c.1961T>A (p.Met654Lys) c.1934T>A (p.Met645Lys) c.1853T>A (p.Met618Lys) c.1838T>A (p.Met613Lys) c.1445T>A (p.Met482Lys) c.1907T>A (p.Met636Lys) c.1841T>A (p.Met614Lys) c.1799T>A (p.Met600Lys) c.872T>A (p.Met291Lys) | |
20 | g.63408445T>A | CA409640264 | KCNQ2 | c.1909A>T (p.Met637Leu) c.1855A>T (p.Met619Leu) n.40A>T c.1252A>T (p.Met418Leu) n.11A>T c.1762A>T (p.Met588Leu) c.1423A>T (p.Met475Leu) c.1771A>T (p.Met591Leu) c.1879A>T (p.Met627Leu) c.1843A>T (p.Met615Leu) c.1801A>T (p.Met601Leu) c.1679+5005A>T (n.1679+5005A>T) c.1897A>T (p.Met633Leu) c.1963A>T (p.Met655Leu) c.1960A>T (p.Met654Leu) c.1933A>T (p.Met645Leu) c.1852A>T (p.Met618Leu) c.1837A>T (p.Met613Leu) c.1444A>T (p.Met482Leu) c.1906A>T (p.Met636Leu) c.1840A>T (p.Met614Leu) c.1798A>T (p.Met600Leu) c.871A>T (p.Met291Leu) | |
20 | g.63408445T>C | CA409640265 | KCNQ2 | c.1909A>G (p.Met637Val) c.1855A>G (p.Met619Val) n.40A>G c.1252A>G (p.Met418Val) n.11A>G c.1762A>G (p.Met588Val) c.1423A>G (p.Met475Val) c.1771A>G (p.Met591Val) c.1879A>G (p.Met627Val) c.1843A>G (p.Met615Val) c.1801A>G (p.Met601Val) c.1679+5005A>G (n.1679+5005A>G) c.1897A>G (p.Met633Val) c.1963A>G (p.Met655Val) c.1960A>G (p.Met654Val) c.1933A>G (p.Met645Val) c.1852A>G (p.Met618Val) c.1837A>G (p.Met613Val) c.1444A>G (p.Met482Val) c.1906A>G (p.Met636Val) c.1840A>G (p.Met614Val) c.1798A>G (p.Met600Val) c.871A>G (p.Met291Val) | gnomAD v4 |
20 | g.63408445T>G | CA409640266 | KCNQ2 | c.1909A>C (p.Met637Leu) c.1855A>C (p.Met619Leu) n.40A>C c.1252A>C (p.Met418Leu) n.11A>C c.1762A>C (p.Met588Leu) c.1423A>C (p.Met475Leu) c.1771A>C (p.Met591Leu) c.1879A>C (p.Met627Leu) c.1843A>C (p.Met615Leu) c.1801A>C (p.Met601Leu) c.1679+5005A>C (n.1679+5005A>C) c.1897A>C (p.Met633Leu) c.1963A>C (p.Met655Leu) c.1960A>C (p.Met654Leu) c.1933A>C (p.Met645Leu) c.1852A>C (p.Met618Leu) c.1837A>C (p.Met613Leu) c.1444A>C (p.Met482Leu) c.1906A>C (p.Met636Leu) c.1840A>C (p.Met614Leu) c.1798A>C (p.Met600Leu) c.871A>C (p.Met291Leu) | dbSNP |
20 | g.63408445T= | CA2374775204 | KCNQ2 | c.1909A= (p.Met637=) c.1855A= (p.Met619=) n.40A= c.1252A= (p.Met418=) n.11A= c.1762A= (p.Met588=) c.1423A= (p.Met475=) c.1771A= (p.Met591=) c.1879A= (p.Met627=) c.1843A= (p.Met615=) c.1801A= (p.Met601=) c.1679+5005A= (n.1679+5005A=) c.1897A= (p.Met633=) c.1963A= (p.Met655=) c.1960A= (p.Met654=) c.1933A= (p.Met645=) c.1852A= (p.Met618=) c.1837A= (p.Met613=) c.1444A= (p.Met482=) c.1906A= (p.Met636=) c.1840A= (p.Met614=) c.1798A= (p.Met600=) c.871A= (p.Met291=) | |
20 | g.63408446G>A | CA511203544 | KCNQ2 | c.1908C>T (p.Ser636=) c.1854C>T (p.Ser618=) n.39C>T c.1251C>T (p.Ser417=) n.10C>T c.1761C>T (p.Ser587=) c.1422C>T (p.Ser474=) c.1770C>T (p.Ser590=) c.1878C>T (p.Ser626=) c.1842C>T (p.Ser614=) c.1800C>T (p.Ser600=) c.1679+5004C>T (n.1679+5004C>T) c.1896C>T (p.Ser632=) c.1962C>T (p.Ser654=) c.1959C>T (p.Ser653=) c.1932C>T (p.Ser644=) c.1851C>T (p.Ser617=) c.1836C>T (p.Ser612=) c.1443C>T (p.Ser481=) c.1905C>T (p.Ser635=) c.1839C>T (p.Ser613=) c.1797C>T (p.Ser599=) c.870C>T (p.Ser290=) | |
20 | g.63408446G>C | CA409640267 | KCNQ2 | c.1908C>G (p.Ser636Arg) c.1854C>G (p.Ser618Arg) n.39C>G c.1251C>G (p.Ser417Arg) n.10C>G c.1761C>G (p.Ser587Arg) c.1422C>G (p.Ser474Arg) c.1770C>G (p.Ser590Arg) c.1878C>G (p.Ser626Arg) c.1842C>G (p.Ser614Arg) c.1800C>G (p.Ser600Arg) c.1679+5004C>G (n.1679+5004C>G) c.1896C>G (p.Ser632Arg) c.1962C>G (p.Ser654Arg) c.1959C>G (p.Ser653Arg) c.1932C>G (p.Ser644Arg) c.1851C>G (p.Ser617Arg) c.1836C>G (p.Ser612Arg) c.1443C>G (p.Ser481Arg) c.1905C>G (p.Ser635Arg) c.1839C>G (p.Ser613Arg) c.1797C>G (p.Ser599Arg) c.870C>G (p.Ser290Arg) | |
20 | g.63408446G>T | CA409640268 | KCNQ2 | c.1908C>A (p.Ser636Arg) c.1854C>A (p.Ser618Arg) n.39C>A c.1251C>A (p.Ser417Arg) n.10C>A c.1761C>A (p.Ser587Arg) c.1422C>A (p.Ser474Arg) c.1770C>A (p.Ser590Arg) c.1878C>A (p.Ser626Arg) c.1842C>A (p.Ser614Arg) c.1800C>A (p.Ser600Arg) c.1679+5004C>A (n.1679+5004C>A) c.1896C>A (p.Ser632Arg) c.1962C>A (p.Ser654Arg) c.1959C>A (p.Ser653Arg) c.1932C>A (p.Ser644Arg) c.1851C>A (p.Ser617Arg) c.1836C>A (p.Ser612Arg) c.1443C>A (p.Ser481Arg) c.1905C>A (p.Ser635Arg) c.1839C>A (p.Ser613Arg) c.1797C>A (p.Ser599Arg) c.870C>A (p.Ser290Arg) | |
20 | g.63408447C>A | CA409640269 | KCNQ2 | c.1907G>T (p.Ser636Ile) c.1853G>T (p.Ser618Ile) n.38G>T c.1250G>T (p.Ser417Ile) n.9G>T c.1760G>T (p.Ser587Ile) c.1421G>T (p.Ser474Ile) c.1769G>T (p.Ser590Ile) c.1877G>T (p.Ser626Ile) c.1841G>T (p.Ser614Ile) c.1799G>T (p.Ser600Ile) c.1679+5003G>T (n.1679+5003G>T) c.1895G>T (p.Ser632Ile) c.1961G>T (p.Ser654Ile) c.1958G>T (p.Ser653Ile) c.1931G>T (p.Ser644Ile) c.1850G>T (p.Ser617Ile) c.1835G>T (p.Ser612Ile) c.1442G>T (p.Ser481Ile) c.1904G>T (p.Ser635Ile) c.1838G>T (p.Ser613Ile) c.1796G>T (p.Ser599Ile) c.869G>T (p.Ser290Ile) | |
20 | g.63408447C>G | CA409640270 | KCNQ2 | c.1907G>C (p.Ser636Thr) c.1853G>C (p.Ser618Thr) n.38G>C c.1250G>C (p.Ser417Thr) n.9G>C c.1760G>C (p.Ser587Thr) c.1421G>C (p.Ser474Thr) c.1769G>C (p.Ser590Thr) c.1877G>C (p.Ser626Thr) c.1841G>C (p.Ser614Thr) c.1799G>C (p.Ser600Thr) c.1679+5003G>C (n.1679+5003G>C) c.1895G>C (p.Ser632Thr) c.1961G>C (p.Ser654Thr) c.1958G>C (p.Ser653Thr) c.1931G>C (p.Ser644Thr) c.1850G>C (p.Ser617Thr) c.1835G>C (p.Ser612Thr) c.1442G>C (p.Ser481Thr) c.1904G>C (p.Ser635Thr) c.1838G>C (p.Ser613Thr) c.1796G>C (p.Ser599Thr) c.869G>C (p.Ser290Thr) | |
20 | g.63408447C>T | CA409640271 | KCNQ2 | c.1907G>A (p.Ser636Asn) c.1853G>A (p.Ser618Asn) n.38G>A c.1250G>A (p.Ser417Asn) n.9G>A c.1760G>A (p.Ser587Asn) c.1421G>A (p.Ser474Asn) c.1769G>A (p.Ser590Asn) c.1877G>A (p.Ser626Asn) c.1841G>A (p.Ser614Asn) c.1799G>A (p.Ser600Asn) c.1679+5003G>A (n.1679+5003G>A) c.1895G>A (p.Ser632Asn) c.1961G>A (p.Ser654Asn) c.1958G>A (p.Ser653Asn) c.1931G>A (p.Ser644Asn) c.1850G>A (p.Ser617Asn) c.1835G>A (p.Ser612Asn) c.1442G>A (p.Ser481Asn) c.1904G>A (p.Ser635Asn) c.1838G>A (p.Ser613Asn) c.1796G>A (p.Ser599Asn) c.869G>A (p.Ser290Asn) | |
20 | g.63408448T>A | CA409640272 | KCNQ2 | c.1906A>T (p.Ser636Cys) c.1852A>T (p.Ser618Cys) n.37A>T c.1249A>T (p.Ser417Cys) n.8A>T c.1759A>T (p.Ser587Cys) c.1420A>T (p.Ser474Cys) c.1768A>T (p.Ser590Cys) c.1876A>T (p.Ser626Cys) c.1840A>T (p.Ser614Cys) c.1798A>T (p.Ser600Cys) c.1679+5002A>T (n.1679+5002A>T) c.1894A>T (p.Ser632Cys) c.1960A>T (p.Ser654Cys) c.1957A>T (p.Ser653Cys) c.1930A>T (p.Ser644Cys) c.1849A>T (p.Ser617Cys) c.1834A>T (p.Ser612Cys) c.1441A>T (p.Ser481Cys) c.1903A>T (p.Ser635Cys) c.1837A>T (p.Ser613Cys) c.1795A>T (p.Ser599Cys) c.868A>T (p.Ser290Cys) | |
20 | g.63408448T>C | CA409640273 | KCNQ2 | c.1906A>G (p.Ser636Gly) c.1852A>G (p.Ser618Gly) n.37A>G c.1249A>G (p.Ser417Gly) n.8A>G c.1759A>G (p.Ser587Gly) c.1420A>G (p.Ser474Gly) c.1768A>G (p.Ser590Gly) c.1876A>G (p.Ser626Gly) c.1840A>G (p.Ser614Gly) c.1798A>G (p.Ser600Gly) c.1679+5002A>G (n.1679+5002A>G) c.1894A>G (p.Ser632Gly) c.1960A>G (p.Ser654Gly) c.1957A>G (p.Ser653Gly) c.1930A>G (p.Ser644Gly) c.1849A>G (p.Ser617Gly) c.1834A>G (p.Ser612Gly) c.1441A>G (p.Ser481Gly) c.1903A>G (p.Ser635Gly) c.1837A>G (p.Ser613Gly) c.1795A>G (p.Ser599Gly) c.868A>G (p.Ser290Gly) | |
20 | g.63408448T>G | CA409640274 | KCNQ2 | c.1906A>C (p.Ser636Arg) c.1852A>C (p.Ser618Arg) n.37A>C c.1249A>C (p.Ser417Arg) n.8A>C c.1759A>C (p.Ser587Arg) c.1420A>C (p.Ser474Arg) c.1768A>C (p.Ser590Arg) c.1876A>C (p.Ser626Arg) c.1840A>C (p.Ser614Arg) c.1798A>C (p.Ser600Arg) c.1679+5002A>C (n.1679+5002A>C) c.1894A>C (p.Ser632Arg) c.1960A>C (p.Ser654Arg) c.1957A>C (p.Ser653Arg) c.1930A>C (p.Ser644Arg) c.1849A>C (p.Ser617Arg) c.1834A>C (p.Ser612Arg) c.1441A>C (p.Ser481Arg) c.1903A>C (p.Ser635Arg) c.1837A>C (p.Ser613Arg) c.1795A>C (p.Ser599Arg) c.868A>C (p.Ser290Arg) | |
20 | g.63408448_63408449delinsTG | CA2374775205 | KCNQ2 | c.1905_1906delinsCA (p.Pro635=) c.1851_1852delinsCA (p.Pro617=) n.36_37delinsCA c.1248_1249delinsCA (p.Pro416=) n.7_8delinsCA c.1758_1759delinsCA (p.Pro586=) c.1419_1420delinsCA (p.Pro473=) c.1767_1768delinsCA (p.Pro589=) c.1875_1876delinsCA (p.Pro625=) c.1839_1840delinsCA (p.Pro613=) c.1797_1798delinsCA (p.Pro599=) c.1679+5001_1679+5002delinsCA (n.1679+5001_1679+5002delinsCA) c.1893_1894delinsCA (p.Pro631=) c.1959_1960delinsCA (p.Pro653=) c.1956_1957delinsCA (p.Pro652=) c.1929_1930delinsCA (p.Pro643=) c.1848_1849delinsCA (p.Pro616=) c.1833_1834delinsCA (p.Pro611=) c.1440_1441delinsCA (p.Pro480=) c.1902_1903delinsCA (p.Pro634=) c.1836_1837delinsCA (p.Pro612=) c.1794_1795delinsCA (p.Pro598=) c.867_868delinsCA (p.Pro289=) | |
20 | g.63408449G>A | CA511203545 | KCNQ2 | c.1905C>T (p.Pro635=) c.1851C>T (p.Pro617=) n.36C>T c.1248C>T (p.Pro416=) n.7C>T c.1758C>T (p.Pro586=) c.1419C>T (p.Pro473=) c.1767C>T (p.Pro589=) c.1875C>T (p.Pro625=) c.1839C>T (p.Pro613=) c.1797C>T (p.Pro599=) c.1679+5001C>T (n.1679+5001C>T) c.1893C>T (p.Pro631=) c.1959C>T (p.Pro653=) c.1956C>T (p.Pro652=) c.1929C>T (p.Pro643=) c.1848C>T (p.Pro616=) c.1833C>T (p.Pro611=) c.1440C>T (p.Pro480=) c.1902C>T (p.Pro634=) c.1836C>T (p.Pro612=) c.1794C>T (p.Pro598=) c.867C>T (p.Pro289=) | gnomAD v4 |
20 | g.63408449G>C | CA511203546 | KCNQ2 | c.1905C>G (p.Pro635=) c.1851C>G (p.Pro617=) n.36C>G c.1248C>G (p.Pro416=) n.7C>G c.1758C>G (p.Pro586=) c.1419C>G (p.Pro473=) c.1767C>G (p.Pro589=) c.1875C>G (p.Pro625=) c.1839C>G (p.Pro613=) c.1797C>G (p.Pro599=) c.1679+5001C>G (n.1679+5001C>G) c.1893C>G (p.Pro631=) c.1959C>G (p.Pro653=) c.1956C>G (p.Pro652=) c.1929C>G (p.Pro643=) c.1848C>G (p.Pro616=) c.1833C>G (p.Pro611=) c.1440C>G (p.Pro480=) c.1902C>G (p.Pro634=) c.1836C>G (p.Pro612=) c.1794C>G (p.Pro598=) c.867C>G (p.Pro289=) | |
20 | g.63408449G>T | CA511203547 | KCNQ2 | c.1905C>A (p.Pro635=) c.1851C>A (p.Pro617=) n.36C>A c.1248C>A (p.Pro416=) n.7C>A c.1758C>A (p.Pro586=) c.1419C>A (p.Pro473=) c.1767C>A (p.Pro589=) c.1875C>A (p.Pro625=) c.1839C>A (p.Pro613=) c.1797C>A (p.Pro599=) c.1679+5001C>A (n.1679+5001C>A) c.1893C>A (p.Pro631=) c.1959C>A (p.Pro653=) c.1956C>A (p.Pro652=) c.1929C>A (p.Pro643=) c.1848C>A (p.Pro616=) c.1833C>A (p.Pro611=) c.1440C>A (p.Pro480=) c.1902C>A (p.Pro634=) c.1836C>A (p.Pro612=) c.1794C>A (p.Pro598=) c.867C>A (p.Pro289=) | gnomAD v4 |
20 | g.63408452del | CA915952962 | KCNQ2 | c.1905del (p.Ser636AlafsTer2) c.1851del (p.Ser618AlafsTer2) n.36del c.1248del (p.Ser417AlafsTer2) n.7del c.1758del (p.Ser587AlafsTer2) c.1419del (p.Ser474AlafsTer2) c.1767del (p.Ser590AlafsTer2) c.1875del (p.Ser626AlafsTer2) c.1839del (p.Ser614AlafsTer2) c.1797del (p.Ser600AlafsTer2) c.1679+5001del (n.1679+5001del) c.1893del (p.Ser632AlafsTer2) c.1959del (p.Ser654AlafsTer2) c.1956del (p.Ser653AlafsTer2) c.1929del (p.Ser644AlafsTer2) c.1848del (p.Ser617AlafsTer2) c.1833del (p.Ser612AlafsTer2) c.1440del (p.Ser481AlafsTer2) c.1902del (p.Ser635AlafsTer2) c.1836del (p.Ser613AlafsTer2) c.1794del (p.Ser599AlafsTer2) c.867del (p.Ser290AlafsTer2) | ClinVar dbSNP gnomAD v4 |
20 | g.63408450G>A | CA409640277 | KCNQ2 | c.1904C>T (p.Pro635Leu) c.1850C>T (p.Pro617Leu) n.35C>T c.1247C>T (p.Pro416Leu) n.6C>T c.1757C>T (p.Pro586Leu) c.1418C>T (p.Pro473Leu) c.1766C>T (p.Pro589Leu) c.1874C>T (p.Pro625Leu) c.1838C>T (p.Pro613Leu) c.1796C>T (p.Pro599Leu) c.1679+5000C>T (n.1679+5000C>T) c.1892C>T (p.Pro631Leu) c.1958C>T (p.Pro653Leu) c.1955C>T (p.Pro652Leu) c.1928C>T (p.Pro643Leu) c.1847C>T (p.Pro616Leu) c.1832C>T (p.Pro611Leu) c.1439C>T (p.Pro480Leu) c.1901C>T (p.Pro634Leu) c.1835C>T (p.Pro612Leu) c.1793C>T (p.Pro598Leu) c.866C>T (p.Pro289Leu) | gnomAD v4 |
20 | g.63408450G>C | CA409640275 | KCNQ2 | c.1904C>G (p.Pro635Arg) c.1850C>G (p.Pro617Arg) n.35C>G c.1247C>G (p.Pro416Arg) n.6C>G c.1757C>G (p.Pro586Arg) c.1418C>G (p.Pro473Arg) c.1766C>G (p.Pro589Arg) c.1874C>G (p.Pro625Arg) c.1838C>G (p.Pro613Arg) c.1796C>G (p.Pro599Arg) c.1679+5000C>G (n.1679+5000C>G) c.1892C>G (p.Pro631Arg) c.1958C>G (p.Pro653Arg) c.1955C>G (p.Pro652Arg) c.1928C>G (p.Pro643Arg) c.1847C>G (p.Pro616Arg) c.1832C>G (p.Pro611Arg) c.1439C>G (p.Pro480Arg) c.1901C>G (p.Pro634Arg) c.1835C>G (p.Pro612Arg) c.1793C>G (p.Pro598Arg) c.866C>G (p.Pro289Arg) | |
20 | g.63408450G>T | CA409640276 | KCNQ2 | c.1904C>A (p.Pro635His) c.1850C>A (p.Pro617His) n.35C>A c.1247C>A (p.Pro416His) n.6C>A c.1757C>A (p.Pro586His) c.1418C>A (p.Pro473His) c.1766C>A (p.Pro589His) c.1874C>A (p.Pro625His) c.1838C>A (p.Pro613His) c.1796C>A (p.Pro599His) c.1679+5000C>A (n.1679+5000C>A) c.1892C>A (p.Pro631His) c.1958C>A (p.Pro653His) c.1955C>A (p.Pro652His) c.1928C>A (p.Pro643His) c.1847C>A (p.Pro616His) c.1832C>A (p.Pro611His) c.1439C>A (p.Pro480His) c.1901C>A (p.Pro634His) c.1835C>A (p.Pro612His) c.1793C>A (p.Pro598His) c.866C>A (p.Pro289His) | gnomAD v4 |
20 | g.63408451G>A | CA9958234 | KCNQ2 | c.1903C>T (p.Pro635Ser) c.1849C>T (p.Pro617Ser) n.34C>T c.1246C>T (p.Pro416Ser) n.5C>T c.1756C>T (p.Pro586Ser) c.1417C>T (p.Pro473Ser) c.1765C>T (p.Pro589Ser) c.1873C>T (p.Pro625Ser) c.1837C>T (p.Pro613Ser) c.1795C>T (p.Pro599Ser) c.1679+4999C>T (n.1679+4999C>T) c.1891C>T (p.Pro631Ser) c.1957C>T (p.Pro653Ser) c.1954C>T (p.Pro652Ser) c.1927C>T (p.Pro643Ser) c.1846C>T (p.Pro616Ser) c.1831C>T (p.Pro611Ser) c.1438C>T (p.Pro480Ser) c.1900C>T (p.Pro634Ser) c.1834C>T (p.Pro612Ser) c.1792C>T (p.Pro598Ser) c.865C>T (p.Pro289Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63408451G>C | CA409640278 | KCNQ2 | c.1903C>G (p.Pro635Ala) c.1849C>G (p.Pro617Ala) n.34C>G c.1246C>G (p.Pro416Ala) n.5C>G c.1756C>G (p.Pro586Ala) c.1417C>G (p.Pro473Ala) c.1765C>G (p.Pro589Ala) c.1873C>G (p.Pro625Ala) c.1837C>G (p.Pro613Ala) c.1795C>G (p.Pro599Ala) c.1679+4999C>G (n.1679+4999C>G) c.1891C>G (p.Pro631Ala) c.1957C>G (p.Pro653Ala) c.1954C>G (p.Pro652Ala) c.1927C>G (p.Pro643Ala) c.1846C>G (p.Pro616Ala) c.1831C>G (p.Pro611Ala) c.1438C>G (p.Pro480Ala) c.1900C>G (p.Pro634Ala) c.1834C>G (p.Pro612Ala) c.1792C>G (p.Pro598Ala) c.865C>G (p.Pro289Ala) | |
20 | g.63408451G= | CA2374775206 | KCNQ2 | c.1903C= (p.Pro635=) c.1849C= (p.Pro617=) n.34C= c.1246C= (p.Pro416=) n.5C= c.1756C= (p.Pro586=) c.1417C= (p.Pro473=) c.1765C= (p.Pro589=) c.1873C= (p.Pro625=) c.1837C= (p.Pro613=) c.1795C= (p.Pro599=) c.1679+4999C= (n.1679+4999C=) c.1891C= (p.Pro631=) c.1957C= (p.Pro653=) c.1954C= (p.Pro652=) c.1927C= (p.Pro643=) c.1846C= (p.Pro616=) c.1831C= (p.Pro611=) c.1438C= (p.Pro480=) c.1900C= (p.Pro634=) c.1834C= (p.Pro612=) c.1792C= (p.Pro598=) c.865C= (p.Pro289=) | |
20 | g.63408451G>T | CA409640279 | KCNQ2 | c.1903C>A (p.Pro635Thr) c.1849C>A (p.Pro617Thr) n.34C>A c.1246C>A (p.Pro416Thr) n.5C>A c.1756C>A (p.Pro586Thr) c.1417C>A (p.Pro473Thr) c.1765C>A (p.Pro589Thr) c.1873C>A (p.Pro625Thr) c.1837C>A (p.Pro613Thr) c.1795C>A (p.Pro599Thr) c.1679+4999C>A (n.1679+4999C>A) c.1891C>A (p.Pro631Thr) c.1957C>A (p.Pro653Thr) c.1954C>A (p.Pro652Thr) c.1927C>A (p.Pro643Thr) c.1846C>A (p.Pro616Thr) c.1831C>A (p.Pro611Thr) c.1438C>A (p.Pro480Thr) c.1900C>A (p.Pro634Thr) c.1834C>A (p.Pro612Thr) c.1792C>A (p.Pro598Thr) c.865C>A (p.Pro289Thr) | gnomAD v4 |
20 | g.63408452G>A | CA511203548 | KCNQ2 | c.1902C>T (p.Asp634=) c.1848C>T (p.Asp616=) n.33C>T c.1245C>T (p.Asp415=) n.4C>T c.1755C>T (p.Asp585=) c.1416C>T (p.Asp472=) c.1764C>T (p.Asp588=) c.1872C>T (p.Asp624=) c.1836C>T (p.Asp612=) c.1794C>T (p.Asp598=) c.1679+4998C>T (n.1679+4998C>T) c.1890C>T (p.Asp630=) c.1956C>T (p.Asp652=) c.1953C>T (p.Asp651=) c.1926C>T (p.Asp642=) c.1845C>T (p.Asp615=) c.1830C>T (p.Asp610=) c.1437C>T (p.Asp479=) c.1899C>T (p.Asp633=) c.1833C>T (p.Asp611=) c.1791C>T (p.Asp597=) c.864C>T (p.Asp288=) | ClinVar |
20 | g.63408452G>C | CA409640280 | KCNQ2 | c.1902C>G (p.Asp634Glu) c.1848C>G (p.Asp616Glu) n.33C>G c.1245C>G (p.Asp415Glu) n.4C>G c.1755C>G (p.Asp585Glu) c.1416C>G (p.Asp472Glu) c.1764C>G (p.Asp588Glu) c.1872C>G (p.Asp624Glu) c.1836C>G (p.Asp612Glu) c.1794C>G (p.Asp598Glu) c.1679+4998C>G (n.1679+4998C>G) c.1890C>G (p.Asp630Glu) c.1956C>G (p.Asp652Glu) c.1953C>G (p.Asp651Glu) c.1926C>G (p.Asp642Glu) c.1845C>G (p.Asp615Glu) c.1830C>G (p.Asp610Glu) c.1437C>G (p.Asp479Glu) c.1899C>G (p.Asp633Glu) c.1833C>G (p.Asp611Glu) c.1791C>G (p.Asp597Glu) c.864C>G (p.Asp288Glu) | |
20 | g.63408452G>T | CA409640281 | KCNQ2 | c.1902C>A (p.Asp634Glu) c.1848C>A (p.Asp616Glu) n.33C>A c.1245C>A (p.Asp415Glu) n.4C>A c.1755C>A (p.Asp585Glu) c.1416C>A (p.Asp472Glu) c.1764C>A (p.Asp588Glu) c.1872C>A (p.Asp624Glu) c.1836C>A (p.Asp612Glu) c.1794C>A (p.Asp598Glu) c.1679+4998C>A (n.1679+4998C>A) c.1890C>A (p.Asp630Glu) c.1956C>A (p.Asp652Glu) c.1953C>A (p.Asp651Glu) c.1926C>A (p.Asp642Glu) c.1845C>A (p.Asp615Glu) c.1830C>A (p.Asp610Glu) c.1437C>A (p.Asp479Glu) c.1899C>A (p.Asp633Glu) c.1833C>A (p.Asp611Glu) c.1791C>A (p.Asp597Glu) c.864C>A (p.Asp288Glu) | |
20 | g.63408453del | CA2577453724 | KCNQ2 | c.1901del (p.Asp634AlafsTer4) c.1847del (p.Asp616AlafsTer4) n.32del c.1244del (p.Asp415AlafsTer4) n.3del c.1754del (p.Asp585AlafsTer4) c.1415del (p.Asp472AlafsTer4) c.1763del (p.Asp588AlafsTer4) c.1871del (p.Asp624AlafsTer4) c.1835del (p.Asp612AlafsTer4) c.1793del (p.Asp598AlafsTer4) c.1679+4997del (n.1679+4997del) c.1889del (p.Asp630AlafsTer4) c.1955del (p.Asp652AlafsTer4) c.1952del (p.Asp651AlafsTer4) c.1925del (p.Asp642AlafsTer4) c.1844del (p.Asp615AlafsTer4) c.1829del (p.Asp610AlafsTer4) c.1436del (p.Asp479AlafsTer4) c.1898del (p.Asp633AlafsTer4) c.1832del (p.Asp611AlafsTer4) c.1790del (p.Asp597AlafsTer4) c.863del (p.Asp288AlafsTer4) | |
20 | g.63408453T>A | CA409640282 | KCNQ2 | c.1901A>T (p.Asp634Val) c.1847A>T (p.Asp616Val) n.32A>T c.1244A>T (p.Asp415Val) n.3A>T c.1754A>T (p.Asp585Val) c.1415A>T (p.Asp472Val) c.1763A>T (p.Asp588Val) c.1871A>T (p.Asp624Val) c.1835A>T (p.Asp612Val) c.1793A>T (p.Asp598Val) c.1679+4997A>T (n.1679+4997A>T) c.1889A>T (p.Asp630Val) c.1955A>T (p.Asp652Val) c.1952A>T (p.Asp651Val) c.1925A>T (p.Asp642Val) c.1844A>T (p.Asp615Val) c.1829A>T (p.Asp610Val) c.1436A>T (p.Asp479Val) c.1898A>T (p.Asp633Val) c.1832A>T (p.Asp611Val) c.1790A>T (p.Asp597Val) c.863A>T (p.Asp288Val) | |
20 | g.63408453T>C | CA409640283 | KCNQ2 | c.1901A>G (p.Asp634Gly) c.1847A>G (p.Asp616Gly) n.32A>G c.1244A>G (p.Asp415Gly) n.3A>G c.1754A>G (p.Asp585Gly) c.1415A>G (p.Asp472Gly) c.1763A>G (p.Asp588Gly) c.1871A>G (p.Asp624Gly) c.1835A>G (p.Asp612Gly) c.1793A>G (p.Asp598Gly) c.1679+4997A>G (n.1679+4997A>G) c.1889A>G (p.Asp630Gly) c.1955A>G (p.Asp652Gly) c.1952A>G (p.Asp651Gly) c.1925A>G (p.Asp642Gly) c.1844A>G (p.Asp615Gly) c.1829A>G (p.Asp610Gly) c.1436A>G (p.Asp479Gly) c.1898A>G (p.Asp633Gly) c.1832A>G (p.Asp611Gly) c.1790A>G (p.Asp597Gly) c.863A>G (p.Asp288Gly) | |
20 | g.63408453T>G | CA409640284 | KCNQ2 | c.1901A>C (p.Asp634Ala) c.1847A>C (p.Asp616Ala) n.32A>C c.1244A>C (p.Asp415Ala) n.3A>C c.1754A>C (p.Asp585Ala) c.1415A>C (p.Asp472Ala) c.1763A>C (p.Asp588Ala) c.1871A>C (p.Asp624Ala) c.1835A>C (p.Asp612Ala) c.1793A>C (p.Asp598Ala) c.1679+4997A>C (n.1679+4997A>C) c.1889A>C (p.Asp630Ala) c.1955A>C (p.Asp652Ala) c.1952A>C (p.Asp651Ala) c.1925A>C (p.Asp642Ala) c.1844A>C (p.Asp615Ala) c.1829A>C (p.Asp610Ala) c.1436A>C (p.Asp479Ala) c.1898A>C (p.Asp633Ala) c.1832A>C (p.Asp611Ala) c.1790A>C (p.Asp597Ala) c.863A>C (p.Asp288Ala) | |
20 | g.63408454C>A | CA409640285 | KCNQ2 | c.1900G>T (p.Asp634Tyr) c.1846G>T (p.Asp616Tyr) n.31G>T c.1243G>T (p.Asp415Tyr) n.2G>T c.1753G>T (p.Asp585Tyr) c.1414G>T (p.Asp472Tyr) c.1762G>T (p.Asp588Tyr) c.1870G>T (p.Asp624Tyr) c.1834G>T (p.Asp612Tyr) c.1792G>T (p.Asp598Tyr) c.1679+4996G>T (n.1679+4996G>T) c.1888G>T (p.Asp630Tyr) c.1954G>T (p.Asp652Tyr) c.1951G>T (p.Asp651Tyr) c.1924G>T (p.Asp642Tyr) c.1843G>T (p.Asp615Tyr) c.1828G>T (p.Asp610Tyr) c.1435G>T (p.Asp479Tyr) c.1897G>T (p.Asp633Tyr) c.1831G>T (p.Asp611Tyr) c.1789G>T (p.Asp597Tyr) c.862G>T (p.Asp288Tyr) | gnomAD v4 |
20 | g.63408454C>G | CA409640286 | KCNQ2 | c.1900G>C (p.Asp634His) c.1846G>C (p.Asp616His) n.31G>C c.1243G>C (p.Asp415His) n.2G>C c.1753G>C (p.Asp585His) c.1414G>C (p.Asp472His) c.1762G>C (p.Asp588His) c.1870G>C (p.Asp624His) c.1834G>C (p.Asp612His) c.1792G>C (p.Asp598His) c.1679+4996G>C (n.1679+4996G>C) c.1888G>C (p.Asp630His) c.1954G>C (p.Asp652His) c.1951G>C (p.Asp651His) c.1924G>C (p.Asp642His) c.1843G>C (p.Asp615His) c.1828G>C (p.Asp610His) c.1435G>C (p.Asp479His) c.1897G>C (p.Asp633His) c.1831G>C (p.Asp611His) c.1789G>C (p.Asp597His) c.862G>C (p.Asp288His) | |
20 | g.63408454C>T | CA409640287 | KCNQ2 | c.1900G>A (p.Asp634Asn) c.1846G>A (p.Asp616Asn) n.31G>A c.1243G>A (p.Asp415Asn) n.2G>A c.1753G>A (p.Asp585Asn) c.1414G>A (p.Asp472Asn) c.1762G>A (p.Asp588Asn) c.1870G>A (p.Asp624Asn) c.1834G>A (p.Asp612Asn) c.1792G>A (p.Asp598Asn) c.1679+4996G>A (n.1679+4996G>A) c.1888G>A (p.Asp630Asn) c.1954G>A (p.Asp652Asn) c.1951G>A (p.Asp651Asn) c.1924G>A (p.Asp642Asn) c.1843G>A (p.Asp615Asn) c.1828G>A (p.Asp610Asn) c.1435G>A (p.Asp479Asn) c.1897G>A (p.Asp633Asn) c.1831G>A (p.Asp611Asn) c.1789G>A (p.Asp597Asn) c.862G>A (p.Asp288Asn) | gnomAD v4 COSMIC COSMIC |
20 | g.63408455C>A | CA409640289 | KCNQ2 | c.1899G>T (p.Glu633Asp) c.1845G>T (p.Glu615Asp) n.30G>T c.1242G>T (p.Glu414Asp) n.1G>T c.1752G>T (p.Glu584Asp) c.1413G>T (p.Glu471Asp) c.1761G>T (p.Glu587Asp) c.1869G>T (p.Glu623Asp) c.1833G>T (p.Glu611Asp) c.1791G>T (p.Glu597Asp) c.1679+4995G>T (n.1679+4995G>T) c.1887G>T (p.Glu629Asp) c.1953G>T (p.Glu651Asp) c.1950G>T (p.Glu650Asp) c.1923G>T (p.Glu641Asp) c.1842G>T (p.Glu614Asp) c.1827G>T (p.Glu609Asp) c.1434G>T (p.Glu478Asp) c.1896G>T (p.Glu632Asp) c.1830G>T (p.Glu610Asp) c.1788G>T (p.Glu596Asp) c.861G>T (p.Glu287Asp) | |
20 | g.63408455C>G | CA409640288 | KCNQ2 | c.1899G>C (p.Glu633Asp) c.1845G>C (p.Glu615Asp) n.30G>C c.1242G>C (p.Glu414Asp) n.1G>C c.1752G>C (p.Glu584Asp) c.1413G>C (p.Glu471Asp) c.1761G>C (p.Glu587Asp) c.1869G>C (p.Glu623Asp) c.1833G>C (p.Glu611Asp) c.1791G>C (p.Glu597Asp) c.1679+4995G>C (n.1679+4995G>C) c.1887G>C (p.Glu629Asp) c.1953G>C (p.Glu651Asp) c.1950G>C (p.Glu650Asp) c.1923G>C (p.Glu641Asp) c.1842G>C (p.Glu614Asp) c.1827G>C (p.Glu609Asp) c.1434G>C (p.Glu478Asp) c.1896G>C (p.Glu632Asp) c.1830G>C (p.Glu610Asp) c.1788G>C (p.Glu596Asp) c.861G>C (p.Glu287Asp) | |
20 | g.63408455C>T | CA511203549 | KCNQ2 | c.1899G>A (p.Glu633=) c.1845G>A (p.Glu615=) n.30G>A c.1242G>A (p.Glu414=) n.1G>A c.1752G>A (p.Glu584=) c.1413G>A (p.Glu471=) c.1761G>A (p.Glu587=) c.1869G>A (p.Glu623=) c.1833G>A (p.Glu611=) c.1791G>A (p.Glu597=) c.1679+4995G>A (n.1679+4995G>A) c.1887G>A (p.Glu629=) c.1953G>A (p.Glu651=) c.1950G>A (p.Glu650=) c.1923G>A (p.Glu641=) c.1842G>A (p.Glu614=) c.1827G>A (p.Glu609=) c.1434G>A (p.Glu478=) c.1896G>A (p.Glu632=) c.1830G>A (p.Glu610=) c.1788G>A (p.Glu596=) c.861G>A (p.Glu287=) | gnomAD v4 |
20 | g.63408456T>A | CA409640290 | KCNQ2 | c.1898A>T (p.Glu633Val) c.1844A>T (p.Glu615Val) n.29A>T c.1241A>T (p.Glu414Val) c.1751A>T (p.Glu584Val) c.1412A>T (p.Glu471Val) c.1760A>T (p.Glu587Val) c.1868A>T (p.Glu623Val) c.1832A>T (p.Glu611Val) c.1790A>T (p.Glu597Val) c.1679+4994A>T (n.1679+4994A>T) c.1886A>T (p.Glu629Val) c.1952A>T (p.Glu651Val) c.1949A>T (p.Glu650Val) c.1922A>T (p.Glu641Val) c.1841A>T (p.Glu614Val) c.1826A>T (p.Glu609Val) c.1433A>T (p.Glu478Val) c.1895A>T (p.Glu632Val) c.1829A>T (p.Glu610Val) c.1787A>T (p.Glu596Val) c.860A>T (p.Glu287Val) | |
20 | g.63408456T>C | CA409640291 | KCNQ2 | c.1898A>G (p.Glu633Gly) c.1844A>G (p.Glu615Gly) n.29A>G c.1241A>G (p.Glu414Gly) c.1751A>G (p.Glu584Gly) c.1412A>G (p.Glu471Gly) c.1760A>G (p.Glu587Gly) c.1868A>G (p.Glu623Gly) c.1832A>G (p.Glu611Gly) c.1790A>G (p.Glu597Gly) c.1679+4994A>G (n.1679+4994A>G) c.1886A>G (p.Glu629Gly) c.1952A>G (p.Glu651Gly) c.1949A>G (p.Glu650Gly) c.1922A>G (p.Glu641Gly) c.1841A>G (p.Glu614Gly) c.1826A>G (p.Glu609Gly) c.1433A>G (p.Glu478Gly) c.1895A>G (p.Glu632Gly) c.1829A>G (p.Glu610Gly) c.1787A>G (p.Glu596Gly) c.860A>G (p.Glu287Gly) | |
20 | g.63408456T>G | CA409640292 | KCNQ2 | c.1898A>C (p.Glu633Ala) c.1844A>C (p.Glu615Ala) n.29A>C c.1241A>C (p.Glu414Ala) c.1751A>C (p.Glu584Ala) c.1412A>C (p.Glu471Ala) c.1760A>C (p.Glu587Ala) c.1868A>C (p.Glu623Ala) c.1832A>C (p.Glu611Ala) c.1790A>C (p.Glu597Ala) c.1679+4994A>C (n.1679+4994A>C) c.1886A>C (p.Glu629Ala) c.1952A>C (p.Glu651Ala) c.1949A>C (p.Glu650Ala) c.1922A>C (p.Glu641Ala) c.1841A>C (p.Glu614Ala) c.1826A>C (p.Glu609Ala) c.1433A>C (p.Glu478Ala) c.1895A>C (p.Glu632Ala) c.1829A>C (p.Glu610Ala) c.1787A>C (p.Glu596Ala) c.860A>C (p.Glu287Ala) | gnomAD v4 |
20 | g.63408457C>A | CA409640293 | KCNQ2 | c.1897G>T (p.Glu633Ter) c.1843G>T (p.Glu615Ter) n.28G>T c.1240G>T (p.Glu414Ter) c.1750G>T (p.Glu584Ter) c.1411G>T (p.Glu471Ter) c.1759G>T (p.Glu587Ter) c.1867G>T (p.Glu623Ter) c.1831G>T (p.Glu611Ter) c.1789G>T (p.Glu597Ter) c.1679+4993G>T (n.1679+4993G>T) c.1885G>T (p.Glu629Ter) c.1951G>T (p.Glu651Ter) c.1948G>T (p.Glu650Ter) c.1921G>T (p.Glu641Ter) c.1840G>T (p.Glu614Ter) c.1825G>T (p.Glu609Ter) c.1432G>T (p.Glu478Ter) c.1894G>T (p.Glu632Ter) c.1828G>T (p.Glu610Ter) c.1786G>T (p.Glu596Ter) c.859G>T (p.Glu287Ter) | |
20 | g.63408457C= | CA2374775207 | KCNQ2 | c.1897G= (p.Glu633=) c.1843G= (p.Glu615=) n.28G= c.1240G= (p.Glu414=) c.1750G= (p.Glu584=) c.1411G= (p.Glu471=) c.1759G= (p.Glu587=) c.1867G= (p.Glu623=) c.1831G= (p.Glu611=) c.1789G= (p.Glu597=) c.1679+4993G= (n.1679+4993G=) c.1885G= (p.Glu629=) c.1951G= (p.Glu651=) c.1948G= (p.Glu650=) c.1921G= (p.Glu641=) c.1840G= (p.Glu614=) c.1825G= (p.Glu609=) c.1432G= (p.Glu478=) c.1894G= (p.Glu632=) c.1828G= (p.Glu610=) c.1786G= (p.Glu596=) c.859G= (p.Glu287=) | |
20 | g.63408457C>G | CA409640294 | KCNQ2 | c.1897G>C (p.Glu633Gln) c.1843G>C (p.Glu615Gln) n.28G>C c.1240G>C (p.Glu414Gln) c.1750G>C (p.Glu584Gln) c.1411G>C (p.Glu471Gln) c.1759G>C (p.Glu587Gln) c.1867G>C (p.Glu623Gln) c.1831G>C (p.Glu611Gln) c.1789G>C (p.Glu597Gln) c.1679+4993G>C (n.1679+4993G>C) c.1885G>C (p.Glu629Gln) c.1951G>C (p.Glu651Gln) c.1948G>C (p.Glu650Gln) c.1921G>C (p.Glu641Gln) c.1840G>C (p.Glu614Gln) c.1825G>C (p.Glu609Gln) c.1432G>C (p.Glu478Gln) c.1894G>C (p.Glu632Gln) c.1828G>C (p.Glu610Gln) c.1786G>C (p.Glu596Gln) c.859G>C (p.Glu287Gln) | |
20 | g.63408457C>T | CA409640295 | KCNQ2 | c.1897G>A (p.Glu633Lys) c.1843G>A (p.Glu615Lys) n.28G>A c.1240G>A (p.Glu414Lys) c.1750G>A (p.Glu584Lys) c.1411G>A (p.Glu471Lys) c.1759G>A (p.Glu587Lys) c.1867G>A (p.Glu623Lys) c.1831G>A (p.Glu611Lys) c.1789G>A (p.Glu597Lys) c.1679+4993G>A (n.1679+4993G>A) c.1885G>A (p.Glu629Lys) c.1951G>A (p.Glu651Lys) c.1948G>A (p.Glu650Lys) c.1921G>A (p.Glu641Lys) c.1840G>A (p.Glu614Lys) c.1825G>A (p.Glu609Lys) c.1432G>A (p.Glu478Lys) c.1894G>A (p.Glu632Lys) c.1828G>A (p.Glu610Lys) c.1786G>A (p.Glu596Lys) c.859G>A (p.Glu287Lys) | ClinVar dbSNP gnomAD v2 |
20 | g.63408458G>A | CA234146 | KCNQ2 | c.1896C>T (p.Pro632=) c.1842C>T (p.Pro614=) n.27C>T c.1239C>T (p.Pro413=) c.1749C>T (p.Pro583=) c.1410C>T (p.Pro470=) c.1758C>T (p.Pro586=) c.1866C>T (p.Pro622=) c.1830C>T (p.Pro610=) c.1788C>T (p.Pro596=) c.1679+4992C>T (n.1679+4992C>T) c.1884C>T (p.Pro628=) c.1950C>T (p.Pro650=) c.1947C>T (p.Pro649=) c.1920C>T (p.Pro640=) c.1839C>T (p.Pro613=) c.1824C>T (p.Pro608=) c.1431C>T (p.Pro477=) c.1893C>T (p.Pro631=) c.1827C>T (p.Pro609=) c.1785C>T (p.Pro595=) c.858C>T (p.Pro286=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63408458G>C | CA511203550 | KCNQ2 | c.1896C>G (p.Pro632=) c.1842C>G (p.Pro614=) n.27C>G c.1239C>G (p.Pro413=) c.1749C>G (p.Pro583=) c.1410C>G (p.Pro470=) c.1758C>G (p.Pro586=) c.1866C>G (p.Pro622=) c.1830C>G (p.Pro610=) c.1788C>G (p.Pro596=) c.1679+4992C>G (n.1679+4992C>G) c.1884C>G (p.Pro628=) c.1950C>G (p.Pro650=) c.1947C>G (p.Pro649=) c.1920C>G (p.Pro640=) c.1839C>G (p.Pro613=) c.1824C>G (p.Pro608=) c.1431C>G (p.Pro477=) c.1893C>G (p.Pro631=) c.1827C>G (p.Pro609=) c.1785C>G (p.Pro595=) c.858C>G (p.Pro286=) | gnomAD v4 |
20 | g.63408458G= | CA2374775208 | KCNQ2 | c.1896C= (p.Pro632=) c.1842C= (p.Pro614=) n.27C= c.1239C= (p.Pro413=) c.1749C= (p.Pro583=) c.1410C= (p.Pro470=) c.1758C= (p.Pro586=) c.1866C= (p.Pro622=) c.1830C= (p.Pro610=) c.1788C= (p.Pro596=) c.1679+4992C= (n.1679+4992C=) c.1884C= (p.Pro628=) c.1950C= (p.Pro650=) c.1947C= (p.Pro649=) c.1920C= (p.Pro640=) c.1839C= (p.Pro613=) c.1824C= (p.Pro608=) c.1431C= (p.Pro477=) c.1893C= (p.Pro631=) c.1827C= (p.Pro609=) c.1785C= (p.Pro595=) c.858C= (p.Pro286=) | |
20 | g.63408458G>T | CA511203551 | KCNQ2 | c.1896C>A (p.Pro632=) c.1842C>A (p.Pro614=) n.27C>A c.1239C>A (p.Pro413=) c.1749C>A (p.Pro583=) c.1410C>A (p.Pro470=) c.1758C>A (p.Pro586=) c.1866C>A (p.Pro622=) c.1830C>A (p.Pro610=) c.1788C>A (p.Pro596=) c.1679+4992C>A (n.1679+4992C>A) c.1884C>A (p.Pro628=) c.1950C>A (p.Pro650=) c.1947C>A (p.Pro649=) c.1920C>A (p.Pro640=) c.1839C>A (p.Pro613=) c.1824C>A (p.Pro608=) c.1431C>A (p.Pro477=) c.1893C>A (p.Pro631=) c.1827C>A (p.Pro609=) c.1785C>A (p.Pro595=) c.858C>A (p.Pro286=) | gnomAD v4 |
20 | g.63408460del | CA645608745 | KCNQ2 | c.1896del (p.Glu633ArgfsTer5) c.1842del (p.Glu615ArgfsTer5) n.27del c.1239del (p.Glu414ArgfsTer5) c.1749del (p.Glu584ArgfsTer5) c.1410del (p.Glu471ArgfsTer5) c.1758del (p.Glu587ArgfsTer5) c.1866del (p.Glu623ArgfsTer5) c.1830del (p.Glu611ArgfsTer5) c.1788del (p.Glu597ArgfsTer5) c.1679+4992del (n.1679+4992del) c.1884del (p.Glu629ArgfsTer5) c.1950del (p.Glu651ArgfsTer5) c.1947del (p.Glu650ArgfsTer5) c.1920del (p.Glu641ArgfsTer5) c.1839del (p.Glu614ArgfsTer5) c.1824del (p.Glu609ArgfsTer5) c.1431del (p.Glu478ArgfsTer5) c.1893del (p.Glu632ArgfsTer5) c.1827del (p.Glu610ArgfsTer5) c.1785del (p.Glu596ArgfsTer5) c.858del (p.Glu287ArgfsTer5) | gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63408459G>A | CA409640296 | KCNQ2 | c.1895C>T (p.Pro632Leu) c.1841C>T (p.Pro614Leu) n.26C>T c.1238C>T (p.Pro413Leu) c.1748C>T (p.Pro583Leu) c.1409C>T (p.Pro470Leu) c.1757C>T (p.Pro586Leu) c.1865C>T (p.Pro622Leu) c.1829C>T (p.Pro610Leu) c.1787C>T (p.Pro596Leu) c.1679+4991C>T (n.1679+4991C>T) c.1883C>T (p.Pro628Leu) c.1949C>T (p.Pro650Leu) c.1946C>T (p.Pro649Leu) c.1919C>T (p.Pro640Leu) c.1838C>T (p.Pro613Leu) c.1823C>T (p.Pro608Leu) c.1430C>T (p.Pro477Leu) c.1892C>T (p.Pro631Leu) c.1826C>T (p.Pro609Leu) c.1784C>T (p.Pro595Leu) c.857C>T (p.Pro286Leu) | gnomAD v4 |
20 | g.63408459G>C | CA409640297 | KCNQ2 | c.1895C>G (p.Pro632Arg) c.1841C>G (p.Pro614Arg) n.26C>G c.1238C>G (p.Pro413Arg) c.1748C>G (p.Pro583Arg) c.1409C>G (p.Pro470Arg) c.1757C>G (p.Pro586Arg) c.1865C>G (p.Pro622Arg) c.1829C>G (p.Pro610Arg) c.1787C>G (p.Pro596Arg) c.1679+4991C>G (n.1679+4991C>G) c.1883C>G (p.Pro628Arg) c.1949C>G (p.Pro650Arg) c.1946C>G (p.Pro649Arg) c.1919C>G (p.Pro640Arg) c.1838C>G (p.Pro613Arg) c.1823C>G (p.Pro608Arg) c.1430C>G (p.Pro477Arg) c.1892C>G (p.Pro631Arg) c.1826C>G (p.Pro609Arg) c.1784C>G (p.Pro595Arg) c.857C>G (p.Pro286Arg) | |
20 | g.63408459G>T | CA409640298 | KCNQ2 | c.1895C>A (p.Pro632His) c.1841C>A (p.Pro614His) n.26C>A c.1238C>A (p.Pro413His) c.1748C>A (p.Pro583His) c.1409C>A (p.Pro470His) c.1757C>A (p.Pro586His) c.1865C>A (p.Pro622His) c.1829C>A (p.Pro610His) c.1787C>A (p.Pro596His) c.1679+4991C>A (n.1679+4991C>A) c.1883C>A (p.Pro628His) c.1949C>A (p.Pro650His) c.1946C>A (p.Pro649His) c.1919C>A (p.Pro640His) c.1838C>A (p.Pro613His) c.1823C>A (p.Pro608His) c.1430C>A (p.Pro477His) c.1892C>A (p.Pro631His) c.1826C>A (p.Pro609His) c.1784C>A (p.Pro595His) c.857C>A (p.Pro286His) | gnomAD v4 |
20 | g.63408460G>A | CA409640299 | KCNQ2 | c.1894C>T (p.Pro632Ser) c.1840C>T (p.Pro614Ser) n.25C>T c.1237C>T (p.Pro413Ser) c.1747C>T (p.Pro583Ser) c.1408C>T (p.Pro470Ser) c.1756C>T (p.Pro586Ser) c.1864C>T (p.Pro622Ser) c.1828C>T (p.Pro610Ser) c.1786C>T (p.Pro596Ser) c.1679+4990C>T (n.1679+4990C>T) c.1882C>T (p.Pro628Ser) c.1948C>T (p.Pro650Ser) c.1945C>T (p.Pro649Ser) c.1918C>T (p.Pro640Ser) c.1837C>T (p.Pro613Ser) c.1822C>T (p.Pro608Ser) c.1429C>T (p.Pro477Ser) c.1891C>T (p.Pro631Ser) c.1825C>T (p.Pro609Ser) c.1783C>T (p.Pro595Ser) c.856C>T (p.Pro286Ser) | dbSNP gnomAD v2 |
20 | g.63408460G>C | CA409640300 | KCNQ2 | c.1894C>G (p.Pro632Ala) c.1840C>G (p.Pro614Ala) n.25C>G c.1237C>G (p.Pro413Ala) c.1747C>G (p.Pro583Ala) c.1408C>G (p.Pro470Ala) c.1756C>G (p.Pro586Ala) c.1864C>G (p.Pro622Ala) c.1828C>G (p.Pro610Ala) c.1786C>G (p.Pro596Ala) c.1679+4990C>G (n.1679+4990C>G) c.1882C>G (p.Pro628Ala) c.1948C>G (p.Pro650Ala) c.1945C>G (p.Pro649Ala) c.1918C>G (p.Pro640Ala) c.1837C>G (p.Pro613Ala) c.1822C>G (p.Pro608Ala) c.1429C>G (p.Pro477Ala) c.1891C>G (p.Pro631Ala) c.1825C>G (p.Pro609Ala) c.1783C>G (p.Pro595Ala) c.856C>G (p.Pro286Ala) | |
20 | g.63408460G= | CA2374775209 | KCNQ2 | c.1894C= (p.Pro632=) c.1840C= (p.Pro614=) n.25C= c.1237C= (p.Pro413=) c.1747C= (p.Pro583=) c.1408C= (p.Pro470=) c.1756C= (p.Pro586=) c.1864C= (p.Pro622=) c.1828C= (p.Pro610=) c.1786C= (p.Pro596=) c.1679+4990C= (n.1679+4990C=) c.1882C= (p.Pro628=) c.1948C= (p.Pro650=) c.1945C= (p.Pro649=) c.1918C= (p.Pro640=) c.1837C= (p.Pro613=) c.1822C= (p.Pro608=) c.1429C= (p.Pro477=) c.1891C= (p.Pro631=) c.1825C= (p.Pro609=) c.1783C= (p.Pro595=) c.856C= (p.Pro286=) | |
20 | g.63408460G>T | CA409640301 | KCNQ2 | c.1894C>A (p.Pro632Thr) c.1840C>A (p.Pro614Thr) n.25C>A c.1237C>A (p.Pro413Thr) c.1747C>A (p.Pro583Thr) c.1408C>A (p.Pro470Thr) c.1756C>A (p.Pro586Thr) c.1864C>A (p.Pro622Thr) c.1828C>A (p.Pro610Thr) c.1786C>A (p.Pro596Thr) c.1679+4990C>A (n.1679+4990C>A) c.1882C>A (p.Pro628Thr) c.1948C>A (p.Pro650Thr) c.1945C>A (p.Pro649Thr) c.1918C>A (p.Pro640Thr) c.1837C>A (p.Pro613Thr) c.1822C>A (p.Pro608Thr) c.1429C>A (p.Pro477Thr) c.1891C>A (p.Pro631Thr) c.1825C>A (p.Pro609Thr) c.1783C>A (p.Pro595Thr) c.856C>A (p.Pro286Thr) | |
20 | g.63408461C>A | CA511203552 | KCNQ2 | c.1893G>T (p.Leu631=) c.1839G>T (p.Leu613=) n.24G>T c.1236G>T (p.Leu412=) c.1746G>T (p.Leu582=) c.1407G>T (p.Leu469=) c.1755G>T (p.Leu585=) c.1863G>T (p.Leu621=) c.1827G>T (p.Leu609=) c.1785G>T (p.Leu595=) c.1679+4989G>T (n.1679+4989G>T) c.1881G>T (p.Leu627=) c.1947G>T (p.Leu649=) c.1944G>T (p.Leu648=) c.1917G>T (p.Leu639=) c.1836G>T (p.Leu612=) c.1821G>T (p.Leu607=) c.1428G>T (p.Leu476=) c.1890G>T (p.Leu630=) c.1824G>T (p.Leu608=) c.1782G>T (p.Leu594=) c.855G>T (p.Leu285=) | dbSNP |
20 | g.63408461C= | CA2374775210 | KCNQ2 | c.1893G= (p.Leu631=) c.1839G= (p.Leu613=) n.24G= c.1236G= (p.Leu412=) c.1746G= (p.Leu582=) c.1407G= (p.Leu469=) c.1755G= (p.Leu585=) c.1863G= (p.Leu621=) c.1827G= (p.Leu609=) c.1785G= (p.Leu595=) c.1679+4989G= (n.1679+4989G=) c.1881G= (p.Leu627=) c.1947G= (p.Leu649=) c.1944G= (p.Leu648=) c.1917G= (p.Leu639=) c.1836G= (p.Leu612=) c.1821G= (p.Leu607=) c.1428G= (p.Leu476=) c.1890G= (p.Leu630=) c.1824G= (p.Leu608=) c.1782G= (p.Leu594=) c.855G= (p.Leu285=) | |
20 | g.63408461C>G | CA511203553 | KCNQ2 | c.1893G>C (p.Leu631=) c.1839G>C (p.Leu613=) n.24G>C c.1236G>C (p.Leu412=) c.1746G>C (p.Leu582=) c.1407G>C (p.Leu469=) c.1755G>C (p.Leu585=) c.1863G>C (p.Leu621=) c.1827G>C (p.Leu609=) c.1785G>C (p.Leu595=) c.1679+4989G>C (n.1679+4989G>C) c.1881G>C (p.Leu627=) c.1947G>C (p.Leu649=) c.1944G>C (p.Leu648=) c.1917G>C (p.Leu639=) c.1836G>C (p.Leu612=) c.1821G>C (p.Leu607=) c.1428G>C (p.Leu476=) c.1890G>C (p.Leu630=) c.1824G>C (p.Leu608=) c.1782G>C (p.Leu594=) c.855G>C (p.Leu285=) | |
20 | g.63408461C>T | CA511203554 | KCNQ2 | c.1893G>A (p.Leu631=) c.1839G>A (p.Leu613=) n.24G>A c.1236G>A (p.Leu412=) c.1746G>A (p.Leu582=) c.1407G>A (p.Leu469=) c.1755G>A (p.Leu585=) c.1863G>A (p.Leu621=) c.1827G>A (p.Leu609=) c.1785G>A (p.Leu595=) c.1679+4989G>A (n.1679+4989G>A) c.1881G>A (p.Leu627=) c.1947G>A (p.Leu649=) c.1944G>A (p.Leu648=) c.1917G>A (p.Leu639=) c.1836G>A (p.Leu612=) c.1821G>A (p.Leu607=) c.1428G>A (p.Leu476=) c.1890G>A (p.Leu630=) c.1824G>A (p.Leu608=) c.1782G>A (p.Leu594=) c.855G>A (p.Leu285=) | |
20 | g.63408462A>C | CA409640304 | KCNQ2 | c.1892T>G (p.Leu631Arg) c.1838T>G (p.Leu613Arg) n.23T>G c.1235T>G (p.Leu412Arg) c.1745T>G (p.Leu582Arg) c.1406T>G (p.Leu469Arg) c.1754T>G (p.Leu585Arg) c.1862T>G (p.Leu621Arg) c.1826T>G (p.Leu609Arg) c.1784T>G (p.Leu595Arg) c.1679+4988T>G (n.1679+4988T>G) c.1880T>G (p.Leu627Arg) c.1946T>G (p.Leu649Arg) c.1943T>G (p.Leu648Arg) c.1916T>G (p.Leu639Arg) c.1835T>G (p.Leu612Arg) c.1820T>G (p.Leu607Arg) c.1427T>G (p.Leu476Arg) c.1889T>G (p.Leu630Arg) c.1823T>G (p.Leu608Arg) c.1781T>G (p.Leu594Arg) c.854T>G (p.Leu285Arg) | |
20 | g.63408462A>G | CA409640302 | KCNQ2 | c.1892T>C (p.Leu631Pro) c.1838T>C (p.Leu613Pro) n.23T>C c.1235T>C (p.Leu412Pro) c.1745T>C (p.Leu582Pro) c.1406T>C (p.Leu469Pro) c.1754T>C (p.Leu585Pro) c.1862T>C (p.Leu621Pro) c.1826T>C (p.Leu609Pro) c.1784T>C (p.Leu595Pro) c.1679+4988T>C (n.1679+4988T>C) c.1880T>C (p.Leu627Pro) c.1946T>C (p.Leu649Pro) c.1943T>C (p.Leu648Pro) c.1916T>C (p.Leu639Pro) c.1835T>C (p.Leu612Pro) c.1820T>C (p.Leu607Pro) c.1427T>C (p.Leu476Pro) c.1889T>C (p.Leu630Pro) c.1823T>C (p.Leu608Pro) c.1781T>C (p.Leu594Pro) c.854T>C (p.Leu285Pro) | |
20 | g.63408462A>T | CA409640303 | KCNQ2 | c.1892T>A (p.Leu631Gln) c.1838T>A (p.Leu613Gln) n.23T>A c.1235T>A (p.Leu412Gln) c.1745T>A (p.Leu582Gln) c.1406T>A (p.Leu469Gln) c.1754T>A (p.Leu585Gln) c.1862T>A (p.Leu621Gln) c.1826T>A (p.Leu609Gln) c.1784T>A (p.Leu595Gln) c.1679+4988T>A (n.1679+4988T>A) c.1880T>A (p.Leu627Gln) c.1946T>A (p.Leu649Gln) c.1943T>A (p.Leu648Gln) c.1916T>A (p.Leu639Gln) c.1835T>A (p.Leu612Gln) c.1820T>A (p.Leu607Gln) c.1427T>A (p.Leu476Gln) c.1889T>A (p.Leu630Gln) c.1823T>A (p.Leu608Gln) c.1781T>A (p.Leu594Gln) c.854T>A (p.Leu285Gln) | |
20 | g.63408463G>A | CA511203555 | KCNQ2 | c.1891C>T (p.Leu631=) c.1837C>T (p.Leu613=) n.22C>T c.1234C>T (p.Leu412=) c.1744C>T (p.Leu582=) c.1405C>T (p.Leu469=) c.1753C>T (p.Leu585=) c.1861C>T (p.Leu621=) c.1825C>T (p.Leu609=) c.1783C>T (p.Leu595=) c.1679+4987C>T (n.1679+4987C>T) c.1879C>T (p.Leu627=) c.1945C>T (p.Leu649=) c.1942C>T (p.Leu648=) c.1915C>T (p.Leu639=) c.1834C>T (p.Leu612=) c.1819C>T (p.Leu607=) c.1426C>T (p.Leu476=) c.1888C>T (p.Leu630=) c.1822C>T (p.Leu608=) c.1780C>T (p.Leu594=) c.853C>T (p.Leu285=) | gnomAD v4 |
20 | g.63408463G>C | CA409640305 | KCNQ2 | c.1891C>G (p.Leu631Val) c.1837C>G (p.Leu613Val) n.22C>G c.1234C>G (p.Leu412Val) c.1744C>G (p.Leu582Val) c.1405C>G (p.Leu469Val) c.1753C>G (p.Leu585Val) c.1861C>G (p.Leu621Val) c.1825C>G (p.Leu609Val) c.1783C>G (p.Leu595Val) c.1679+4987C>G (n.1679+4987C>G) c.1879C>G (p.Leu627Val) c.1945C>G (p.Leu649Val) c.1942C>G (p.Leu648Val) c.1915C>G (p.Leu639Val) c.1834C>G (p.Leu612Val) c.1819C>G (p.Leu607Val) c.1426C>G (p.Leu476Val) c.1888C>G (p.Leu630Val) c.1822C>G (p.Leu608Val) c.1780C>G (p.Leu594Val) c.853C>G (p.Leu285Val) | |
20 | g.63408463G= | CA2374775211 | KCNQ2 | c.1891C= (p.Leu631=) c.1837C= (p.Leu613=) n.22C= c.1234C= (p.Leu412=) c.1744C= (p.Leu582=) c.1405C= (p.Leu469=) c.1753C= (p.Leu585=) c.1861C= (p.Leu621=) c.1825C= (p.Leu609=) c.1783C= (p.Leu595=) c.1679+4987C= (n.1679+4987C=) c.1879C= (p.Leu627=) c.1945C= (p.Leu649=) c.1942C= (p.Leu648=) c.1915C= (p.Leu639=) c.1834C= (p.Leu612=) c.1819C= (p.Leu607=) c.1426C= (p.Leu476=) c.1888C= (p.Leu630=) c.1822C= (p.Leu608=) c.1780C= (p.Leu594=) c.853C= (p.Leu285=) | |
20 | g.63408463G>T | CA409640306 | KCNQ2 | c.1891C>A (p.Leu631Met) c.1837C>A (p.Leu613Met) n.22C>A c.1234C>A (p.Leu412Met) c.1744C>A (p.Leu582Met) c.1405C>A (p.Leu469Met) c.1753C>A (p.Leu585Met) c.1861C>A (p.Leu621Met) c.1825C>A (p.Leu609Met) c.1783C>A (p.Leu595Met) c.1679+4987C>A (n.1679+4987C>A) c.1879C>A (p.Leu627Met) c.1945C>A (p.Leu649Met) c.1942C>A (p.Leu648Met) c.1915C>A (p.Leu639Met) c.1834C>A (p.Leu612Met) c.1819C>A (p.Leu607Met) c.1426C>A (p.Leu476Met) c.1888C>A (p.Leu630Met) c.1822C>A (p.Leu608Met) c.1780C>A (p.Leu594Met) c.853C>A (p.Leu285Met) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63408464C>A | CA409640307 | KCNQ2 | c.1890G>T (p.Glu630Asp) c.1836G>T (p.Glu612Asp) n.21G>T c.1233G>T (p.Glu411Asp) c.1743G>T (p.Glu581Asp) c.1404G>T (p.Glu468Asp) c.1752G>T (p.Glu584Asp) c.1860G>T (p.Glu620Asp) c.1824G>T (p.Glu608Asp) c.1782G>T (p.Glu594Asp) c.1679+4986G>T (n.1679+4986G>T) c.1878G>T (p.Glu626Asp) c.1944G>T (p.Glu648Asp) c.1941G>T (p.Glu647Asp) c.1914G>T (p.Glu638Asp) c.1833G>T (p.Glu611Asp) c.1818G>T (p.Glu606Asp) c.1425G>T (p.Glu475Asp) c.1887G>T (p.Glu629Asp) c.1821G>T (p.Glu607Asp) c.1779G>T (p.Glu593Asp) c.852G>T (p.Glu284Asp) | |
20 | g.63408464C>G | CA409640308 | KCNQ2 | c.1890G>C (p.Glu630Asp) c.1836G>C (p.Glu612Asp) n.21G>C c.1233G>C (p.Glu411Asp) c.1743G>C (p.Glu581Asp) c.1404G>C (p.Glu468Asp) c.1752G>C (p.Glu584Asp) c.1860G>C (p.Glu620Asp) c.1824G>C (p.Glu608Asp) c.1782G>C (p.Glu594Asp) c.1679+4986G>C (n.1679+4986G>C) c.1878G>C (p.Glu626Asp) c.1944G>C (p.Glu648Asp) c.1941G>C (p.Glu647Asp) c.1914G>C (p.Glu638Asp) c.1833G>C (p.Glu611Asp) c.1818G>C (p.Glu606Asp) c.1425G>C (p.Glu475Asp) c.1887G>C (p.Glu629Asp) c.1821G>C (p.Glu607Asp) c.1779G>C (p.Glu593Asp) c.852G>C (p.Glu284Asp) | |
20 | g.63408464C>T | CA511203556 | KCNQ2 | c.1890G>A (p.Glu630=) c.1836G>A (p.Glu612=) n.21G>A c.1233G>A (p.Glu411=) c.1743G>A (p.Glu581=) c.1404G>A (p.Glu468=) c.1752G>A (p.Glu584=) c.1860G>A (p.Glu620=) c.1824G>A (p.Glu608=) c.1782G>A (p.Glu594=) c.1679+4986G>A (n.1679+4986G>A) c.1878G>A (p.Glu626=) c.1944G>A (p.Glu648=) c.1941G>A (p.Glu647=) c.1914G>A (p.Glu638=) c.1833G>A (p.Glu611=) c.1818G>A (p.Glu606=) c.1425G>A (p.Glu475=) c.1887G>A (p.Glu629=) c.1821G>A (p.Glu607=) c.1779G>A (p.Glu593=) c.852G>A (p.Glu284=) | gnomAD v4 |
20 | g.63408465T>A | CA409640309 | KCNQ2 | c.1889A>T (p.Glu630Val) c.1835A>T (p.Glu612Val) n.20A>T c.1232A>T (p.Glu411Val) c.1742A>T (p.Glu581Val) c.1403A>T (p.Glu468Val) c.1751A>T (p.Glu584Val) c.1859A>T (p.Glu620Val) c.1823A>T (p.Glu608Val) c.1781A>T (p.Glu594Val) c.1679+4985A>T (n.1679+4985A>T) c.1877A>T (p.Glu626Val) c.1943A>T (p.Glu648Val) c.1940A>T (p.Glu647Val) c.1913A>T (p.Glu638Val) c.1832A>T (p.Glu611Val) c.1817A>T (p.Glu606Val) c.1424A>T (p.Glu475Val) c.1886A>T (p.Glu629Val) c.1820A>T (p.Glu607Val) c.1778A>T (p.Glu593Val) c.851A>T (p.Glu284Val) | |
20 | g.63408465T>C | CA409640310 | KCNQ2 | c.1889A>G (p.Glu630Gly) c.1835A>G (p.Glu612Gly) n.20A>G c.1232A>G (p.Glu411Gly) c.1742A>G (p.Glu581Gly) c.1403A>G (p.Glu468Gly) c.1751A>G (p.Glu584Gly) c.1859A>G (p.Glu620Gly) c.1823A>G (p.Glu608Gly) c.1781A>G (p.Glu594Gly) c.1679+4985A>G (n.1679+4985A>G) c.1877A>G (p.Glu626Gly) c.1943A>G (p.Glu648Gly) c.1940A>G (p.Glu647Gly) c.1913A>G (p.Glu638Gly) c.1832A>G (p.Glu611Gly) c.1817A>G (p.Glu606Gly) c.1424A>G (p.Glu475Gly) c.1886A>G (p.Glu629Gly) c.1820A>G (p.Glu607Gly) c.1778A>G (p.Glu593Gly) c.851A>G (p.Glu284Gly) | gnomAD v4 |
20 | g.63408465T>G | CA409640311 | KCNQ2 | c.1889A>C (p.Glu630Ala) c.1835A>C (p.Glu612Ala) n.20A>C c.1232A>C (p.Glu411Ala) c.1742A>C (p.Glu581Ala) c.1403A>C (p.Glu468Ala) c.1751A>C (p.Glu584Ala) c.1859A>C (p.Glu620Ala) c.1823A>C (p.Glu608Ala) c.1781A>C (p.Glu594Ala) c.1679+4985A>C (n.1679+4985A>C) c.1877A>C (p.Glu626Ala) c.1943A>C (p.Glu648Ala) c.1940A>C (p.Glu647Ala) c.1913A>C (p.Glu638Ala) c.1832A>C (p.Glu611Ala) c.1817A>C (p.Glu606Ala) c.1424A>C (p.Glu475Ala) c.1886A>C (p.Glu629Ala) c.1820A>C (p.Glu607Ala) c.1778A>C (p.Glu593Ala) c.851A>C (p.Glu284Ala) | |
20 | g.63408466C>A | CA409640312 | KCNQ2 | c.1888G>T (p.Glu630Ter) c.1834G>T (p.Glu612Ter) n.19G>T c.1231G>T (p.Glu411Ter) c.1741G>T (p.Glu581Ter) c.1402G>T (p.Glu468Ter) c.1750G>T (p.Glu584Ter) c.1858G>T (p.Glu620Ter) c.1822G>T (p.Glu608Ter) c.1780G>T (p.Glu594Ter) c.1679+4984G>T (n.1679+4984G>T) c.1876G>T (p.Glu626Ter) c.1942G>T (p.Glu648Ter) c.1939G>T (p.Glu647Ter) c.1912G>T (p.Glu638Ter) c.1831G>T (p.Glu611Ter) c.1816G>T (p.Glu606Ter) c.1423G>T (p.Glu475Ter) c.1885G>T (p.Glu629Ter) c.1819G>T (p.Glu607Ter) c.1777G>T (p.Glu593Ter) c.850G>T (p.Glu284Ter) | gnomAD v4 |
20 | g.63408466C= | CA2374775212 | KCNQ2 | c.1888G= (p.Glu630=) c.1834G= (p.Glu612=) n.19G= c.1231G= (p.Glu411=) c.1741G= (p.Glu581=) c.1402G= (p.Glu468=) c.1750G= (p.Glu584=) c.1858G= (p.Glu620=) c.1822G= (p.Glu608=) c.1780G= (p.Glu594=) c.1679+4984G= (n.1679+4984G=) c.1876G= (p.Glu626=) c.1942G= (p.Glu648=) c.1939G= (p.Glu647=) c.1912G= (p.Glu638=) c.1831G= (p.Glu611=) c.1816G= (p.Glu606=) c.1423G= (p.Glu475=) c.1885G= (p.Glu629=) c.1819G= (p.Glu607=) c.1777G= (p.Glu593=) c.850G= (p.Glu284=) | |
20 | g.63408466C>G | CA409640313 | KCNQ2 | c.1888G>C (p.Glu630Gln) c.1834G>C (p.Glu612Gln) n.19G>C c.1231G>C (p.Glu411Gln) c.1741G>C (p.Glu581Gln) c.1402G>C (p.Glu468Gln) c.1750G>C (p.Glu584Gln) c.1858G>C (p.Glu620Gln) c.1822G>C (p.Glu608Gln) c.1780G>C (p.Glu594Gln) c.1679+4984G>C (n.1679+4984G>C) c.1876G>C (p.Glu626Gln) c.1942G>C (p.Glu648Gln) c.1939G>C (p.Glu647Gln) c.1912G>C (p.Glu638Gln) c.1831G>C (p.Glu611Gln) c.1816G>C (p.Glu606Gln) c.1423G>C (p.Glu475Gln) c.1885G>C (p.Glu629Gln) c.1819G>C (p.Glu607Gln) c.1777G>C (p.Glu593Gln) c.850G>C (p.Glu284Gln) | |
20 | g.63408466C>T | CA409640314 | KCNQ2 | c.1888G>A (p.Glu630Lys) c.1834G>A (p.Glu612Lys) n.19G>A c.1231G>A (p.Glu411Lys) c.1741G>A (p.Glu581Lys) c.1402G>A (p.Glu468Lys) c.1750G>A (p.Glu584Lys) c.1858G>A (p.Glu620Lys) c.1822G>A (p.Glu608Lys) c.1780G>A (p.Glu594Lys) c.1679+4984G>A (n.1679+4984G>A) c.1876G>A (p.Glu626Lys) c.1942G>A (p.Glu648Lys) c.1939G>A (p.Glu647Lys) c.1912G>A (p.Glu638Lys) c.1831G>A (p.Glu611Lys) c.1816G>A (p.Glu606Lys) c.1423G>A (p.Glu475Lys) c.1885G>A (p.Glu629Lys) c.1819G>A (p.Glu607Lys) c.1777G>A (p.Glu593Lys) c.850G>A (p.Glu284Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63408467C>A | CA511203557 | KCNQ2 | c.1887G>T (p.Ala629=) c.1833G>T (p.Ala611=) n.18G>T c.1230G>T (p.Ala410=) c.1740G>T (p.Ala580=) c.1401G>T (p.Ala467=) c.1749G>T (p.Ala583=) c.1857G>T (p.Ala619=) c.1821G>T (p.Ala607=) c.1779G>T (p.Ala593=) c.1679+4983G>T (n.1679+4983G>T) c.1875G>T (p.Ala625=) c.1941G>T (p.Ala647=) c.1938G>T (p.Ala646=) c.1911G>T (p.Ala637=) c.1830G>T (p.Ala610=) c.1815G>T (p.Ala605=) c.1422G>T (p.Ala474=) c.1884G>T (p.Ala628=) c.1818G>T (p.Ala606=) c.1776G>T (p.Ala592=) c.849G>T (p.Ala283=) | gnomAD v4 |
20 | g.63408467C= | CA2374775213 | KCNQ2 | c.1887G= (p.Ala629=) c.1833G= (p.Ala611=) n.18G= c.1230G= (p.Ala410=) c.1740G= (p.Ala580=) c.1401G= (p.Ala467=) c.1749G= (p.Ala583=) c.1857G= (p.Ala619=) c.1821G= (p.Ala607=) c.1779G= (p.Ala593=) c.1679+4983G= (n.1679+4983G=) c.1875G= (p.Ala625=) c.1941G= (p.Ala647=) c.1938G= (p.Ala646=) c.1911G= (p.Ala637=) c.1830G= (p.Ala610=) c.1815G= (p.Ala605=) c.1422G= (p.Ala474=) c.1884G= (p.Ala628=) c.1818G= (p.Ala606=) c.1776G= (p.Ala592=) c.849G= (p.Ala283=) | |
20 | g.63408467C>G | CA511203558 | KCNQ2 | c.1887G>C (p.Ala629=) c.1833G>C (p.Ala611=) n.18G>C c.1230G>C (p.Ala410=) c.1740G>C (p.Ala580=) c.1401G>C (p.Ala467=) c.1749G>C (p.Ala583=) c.1857G>C (p.Ala619=) c.1821G>C (p.Ala607=) c.1779G>C (p.Ala593=) c.1679+4983G>C (n.1679+4983G>C) c.1875G>C (p.Ala625=) c.1941G>C (p.Ala647=) c.1938G>C (p.Ala646=) c.1911G>C (p.Ala637=) c.1830G>C (p.Ala610=) c.1815G>C (p.Ala605=) c.1422G>C (p.Ala474=) c.1884G>C (p.Ala628=) c.1818G>C (p.Ala606=) c.1776G>C (p.Ala592=) c.849G>C (p.Ala283=) | |
20 | g.63408467C>T | CA291809 | KCNQ2 | c.1887G>A (p.Ala629=) c.1833G>A (p.Ala611=) n.18G>A c.1230G>A (p.Ala410=) c.1740G>A (p.Ala580=) c.1401G>A (p.Ala467=) c.1749G>A (p.Ala583=) c.1857G>A (p.Ala619=) c.1821G>A (p.Ala607=) c.1779G>A (p.Ala593=) c.1679+4983G>A (n.1679+4983G>A) c.1875G>A (p.Ala625=) c.1941G>A (p.Ala647=) c.1938G>A (p.Ala646=) c.1911G>A (p.Ala637=) c.1830G>A (p.Ala610=) c.1815G>A (p.Ala605=) c.1422G>A (p.Ala474=) c.1884G>A (p.Ala628=) c.1818G>A (p.Ala606=) c.1776G>A (p.Ala592=) c.849G>A (p.Ala283=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63408468_63408469dup | CA2695230040 | KCNQ2 | c.1886_1887dup (p.Glu630ArgfsTer9) c.1832_1833dup (p.Glu612ArgfsTer9) n.17_18dup c.1229_1230dup (p.Glu411ArgfsTer9) c.1739_1740dup (p.Glu581ArgfsTer9) c.1400_1401dup (p.Glu468ArgfsTer9) c.1748_1749dup (p.Glu584ArgfsTer9) c.1856_1857dup (p.Glu620ArgfsTer9) c.1820_1821dup (p.Glu608ArgfsTer9) c.1778_1779dup (p.Glu594ArgfsTer9) c.1679+4982_1679+4983dup (n.1679+4982_1679+4983dup) c.1874_1875dup (p.Glu626ArgfsTer9) c.1940_1941dup (p.Glu648ArgfsTer9) c.1937_1938dup (p.Glu647ArgfsTer9) c.1910_1911dup (p.Glu638ArgfsTer9) c.1829_1830dup (p.Glu611ArgfsTer9) c.1814_1815dup (p.Glu606ArgfsTer9) c.1421_1422dup (p.Glu475ArgfsTer9) c.1883_1884dup (p.Glu629ArgfsTer9) c.1817_1818dup (p.Glu607ArgfsTer9) c.1775_1776dup (p.Glu593ArgfsTer9) c.848_849dup (p.Glu284ArgfsTer9) | |
20 | g.63408468G>A | CA315309 | KCNQ2 | c.1886C>T (p.Ala629Val) c.1832C>T (p.Ala611Val) n.17C>T c.1229C>T (p.Ala410Val) c.1739C>T (p.Ala580Val) c.1400C>T (p.Ala467Val) c.1748C>T (p.Ala583Val) c.1856C>T (p.Ala619Val) c.1820C>T (p.Ala607Val) c.1778C>T (p.Ala593Val) c.1679+4982C>T (n.1679+4982C>T) c.1874C>T (p.Ala625Val) c.1940C>T (p.Ala647Val) c.1937C>T (p.Ala646Val) c.1910C>T (p.Ala637Val) c.1829C>T (p.Ala610Val) c.1814C>T (p.Ala605Val) c.1421C>T (p.Ala474Val) c.1883C>T (p.Ala628Val) c.1817C>T (p.Ala606Val) c.1775C>T (p.Ala592Val) c.848C>T (p.Ala283Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63408468G>C | CA409640316 | KCNQ2 | c.1886C>G (p.Ala629Gly) c.1832C>G (p.Ala611Gly) n.17C>G c.1229C>G (p.Ala410Gly) c.1739C>G (p.Ala580Gly) c.1400C>G (p.Ala467Gly) c.1748C>G (p.Ala583Gly) c.1856C>G (p.Ala619Gly) c.1820C>G (p.Ala607Gly) c.1778C>G (p.Ala593Gly) c.1679+4982C>G (n.1679+4982C>G) c.1874C>G (p.Ala625Gly) c.1940C>G (p.Ala647Gly) c.1937C>G (p.Ala646Gly) c.1910C>G (p.Ala637Gly) c.1829C>G (p.Ala610Gly) c.1814C>G (p.Ala605Gly) c.1421C>G (p.Ala474Gly) c.1883C>G (p.Ala628Gly) c.1817C>G (p.Ala606Gly) c.1775C>G (p.Ala592Gly) c.848C>G (p.Ala283Gly) | |
20 | g.63408468G= | CA2374775214 | KCNQ2 | c.1886C= (p.Ala629=) c.1832C= (p.Ala611=) n.17C= c.1229C= (p.Ala410=) c.1739C= (p.Ala580=) c.1400C= (p.Ala467=) c.1748C= (p.Ala583=) c.1856C= (p.Ala619=) c.1820C= (p.Ala607=) c.1778C= (p.Ala593=) c.1679+4982C= (n.1679+4982C=) c.1874C= (p.Ala625=) c.1940C= (p.Ala647=) c.1937C= (p.Ala646=) c.1910C= (p.Ala637=) c.1829C= (p.Ala610=) c.1814C= (p.Ala605=) c.1421C= (p.Ala474=) c.1883C= (p.Ala628=) c.1817C= (p.Ala606=) c.1775C= (p.Ala592=) c.848C= (p.Ala283=) | |
20 | g.63408468G>T | CA409640315 | KCNQ2 | c.1886C>A (p.Ala629Glu) c.1832C>A (p.Ala611Glu) n.17C>A c.1229C>A (p.Ala410Glu) c.1739C>A (p.Ala580Glu) c.1400C>A (p.Ala467Glu) c.1748C>A (p.Ala583Glu) c.1856C>A (p.Ala619Glu) c.1820C>A (p.Ala607Glu) c.1778C>A (p.Ala593Glu) c.1679+4982C>A (n.1679+4982C>A) c.1874C>A (p.Ala625Glu) c.1940C>A (p.Ala647Glu) c.1937C>A (p.Ala646Glu) c.1910C>A (p.Ala637Glu) c.1829C>A (p.Ala610Glu) c.1814C>A (p.Ala605Glu) c.1421C>A (p.Ala474Glu) c.1883C>A (p.Ala628Glu) c.1817C>A (p.Ala606Glu) c.1775C>A (p.Ala592Glu) c.848C>A (p.Ala283Glu) | gnomAD v4 |
20 | g.63408469C>A | CA317423672 | KCNQ2 | c.1885G>T (p.Ala629Ser) c.1831G>T (p.Ala611Ser) n.16G>T c.1228G>T (p.Ala410Ser) c.1738G>T (p.Ala580Ser) c.1399G>T (p.Ala467Ser) c.1747G>T (p.Ala583Ser) c.1855G>T (p.Ala619Ser) c.1819G>T (p.Ala607Ser) c.1777G>T (p.Ala593Ser) c.1679+4981G>T (n.1679+4981G>T) c.1873G>T (p.Ala625Ser) c.1939G>T (p.Ala647Ser) c.1936G>T (p.Ala646Ser) c.1909G>T (p.Ala637Ser) c.1828G>T (p.Ala610Ser) c.1813G>T (p.Ala605Ser) c.1420G>T (p.Ala474Ser) c.1882G>T (p.Ala628Ser) c.1816G>T (p.Ala606Ser) c.1774G>T (p.Ala592Ser) c.847G>T (p.Ala283Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63408469C= | CA2374775215 | KCNQ2 | c.1885G= (p.Ala629=) c.1831G= (p.Ala611=) n.16G= c.1228G= (p.Ala410=) c.1738G= (p.Ala580=) c.1399G= (p.Ala467=) c.1747G= (p.Ala583=) c.1855G= (p.Ala619=) c.1819G= (p.Ala607=) c.1777G= (p.Ala593=) c.1679+4981G= (n.1679+4981G=) c.1873G= (p.Ala625=) c.1939G= (p.Ala647=) c.1936G= (p.Ala646=) c.1909G= (p.Ala637=) c.1828G= (p.Ala610=) c.1813G= (p.Ala605=) c.1420G= (p.Ala474=) c.1882G= (p.Ala628=) c.1816G= (p.Ala606=) c.1774G= (p.Ala592=) c.847G= (p.Ala283=) | |
20 | g.63408469C>G | CA409640317 | KCNQ2 | c.1885G>C (p.Ala629Pro) c.1831G>C (p.Ala611Pro) n.16G>C c.1228G>C (p.Ala410Pro) c.1738G>C (p.Ala580Pro) c.1399G>C (p.Ala467Pro) c.1747G>C (p.Ala583Pro) c.1855G>C (p.Ala619Pro) c.1819G>C (p.Ala607Pro) c.1777G>C (p.Ala593Pro) c.1679+4981G>C (n.1679+4981G>C) c.1873G>C (p.Ala625Pro) c.1939G>C (p.Ala647Pro) c.1936G>C (p.Ala646Pro) c.1909G>C (p.Ala637Pro) c.1828G>C (p.Ala610Pro) c.1813G>C (p.Ala605Pro) c.1420G>C (p.Ala474Pro) c.1882G>C (p.Ala628Pro) c.1816G>C (p.Ala606Pro) c.1774G>C (p.Ala592Pro) c.847G>C (p.Ala283Pro) | dbSNP gnomAD v4 |
20 | g.63408469C>T | CA9958235 | KCNQ2 | c.1885G>A (p.Ala629Thr) c.1831G>A (p.Ala611Thr) n.16G>A c.1228G>A (p.Ala410Thr) c.1738G>A (p.Ala580Thr) c.1399G>A (p.Ala467Thr) c.1747G>A (p.Ala583Thr) c.1855G>A (p.Ala619Thr) c.1819G>A (p.Ala607Thr) c.1777G>A (p.Ala593Thr) c.1679+4981G>A (n.1679+4981G>A) c.1873G>A (p.Ala625Thr) c.1939G>A (p.Ala647Thr) c.1936G>A (p.Ala646Thr) c.1909G>A (p.Ala637Thr) c.1828G>A (p.Ala610Thr) c.1813G>A (p.Ala605Thr) c.1420G>A (p.Ala474Thr) c.1882G>A (p.Ala628Thr) c.1816G>A (p.Ala606Thr) c.1774G>A (p.Ala592Thr) c.847G>A (p.Ala283Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63408470C>A | CA409640318 | KCNQ2 | c.1884G>T (p.Glu628Asp) c.1830G>T (p.Glu610Asp) n.15G>T c.1227G>T (p.Glu409Asp) c.1737G>T (p.Glu579Asp) c.1398G>T (p.Glu466Asp) c.1746G>T (p.Glu582Asp) c.1854G>T (p.Glu618Asp) c.1818G>T (p.Glu606Asp) c.1776G>T (p.Glu592Asp) c.1679+4980G>T (n.1679+4980G>T) c.1872G>T (p.Glu624Asp) c.1938G>T (p.Glu646Asp) c.1935G>T (p.Glu645Asp) c.1908G>T (p.Glu636Asp) c.1827G>T (p.Glu609Asp) c.1812G>T (p.Glu604Asp) c.1419G>T (p.Glu473Asp) c.1881G>T (p.Glu627Asp) c.1815G>T (p.Glu605Asp) c.1773G>T (p.Glu591Asp) c.846G>T (p.Glu282Asp) | gnomAD v4 |
20 | g.63408470C>G | CA409640319 | KCNQ2 | c.1884G>C (p.Glu628Asp) c.1830G>C (p.Glu610Asp) n.15G>C c.1227G>C (p.Glu409Asp) c.1737G>C (p.Glu579Asp) c.1398G>C (p.Glu466Asp) c.1746G>C (p.Glu582Asp) c.1854G>C (p.Glu618Asp) c.1818G>C (p.Glu606Asp) c.1776G>C (p.Glu592Asp) c.1679+4980G>C (n.1679+4980G>C) c.1872G>C (p.Glu624Asp) c.1938G>C (p.Glu646Asp) c.1935G>C (p.Glu645Asp) c.1908G>C (p.Glu636Asp) c.1827G>C (p.Glu609Asp) c.1812G>C (p.Glu604Asp) c.1419G>C (p.Glu473Asp) c.1881G>C (p.Glu627Asp) c.1815G>C (p.Glu605Asp) c.1773G>C (p.Glu591Asp) c.846G>C (p.Glu282Asp) | ClinVar dbSNP |
20 | g.63408470C>T | CA511203559 | KCNQ2 | c.1884G>A (p.Glu628=) c.1830G>A (p.Glu610=) n.15G>A c.1227G>A (p.Glu409=) c.1737G>A (p.Glu579=) c.1398G>A (p.Glu466=) c.1746G>A (p.Glu582=) c.1854G>A (p.Glu618=) c.1818G>A (p.Glu606=) c.1776G>A (p.Glu592=) c.1679+4980G>A (n.1679+4980G>A) c.1872G>A (p.Glu624=) c.1938G>A (p.Glu646=) c.1935G>A (p.Glu645=) c.1908G>A (p.Glu636=) c.1827G>A (p.Glu609=) c.1812G>A (p.Glu604=) c.1419G>A (p.Glu473=) c.1881G>A (p.Glu627=) c.1815G>A (p.Glu605=) c.1773G>A (p.Glu591=) c.846G>A (p.Glu282=) | gnomAD v4 |
20 | g.63408471T>A | CA409640320 | KCNQ2 | c.1883A>T (p.Glu628Val) c.1829A>T (p.Glu610Val) n.14A>T c.1226A>T (p.Glu409Val) c.1736A>T (p.Glu579Val) c.1397A>T (p.Glu466Val) c.1745A>T (p.Glu582Val) c.1853A>T (p.Glu618Val) c.1817A>T (p.Glu606Val) c.1775A>T (p.Glu592Val) c.1679+4979A>T (n.1679+4979A>T) c.1871A>T (p.Glu624Val) c.1937A>T (p.Glu646Val) c.1934A>T (p.Glu645Val) c.1907A>T (p.Glu636Val) c.1826A>T (p.Glu609Val) c.1811A>T (p.Glu604Val) c.1418A>T (p.Glu473Val) c.1880A>T (p.Glu627Val) c.1814A>T (p.Glu605Val) c.1772A>T (p.Glu591Val) c.845A>T (p.Glu282Val) | |
20 | g.63408471T>C | CA409640321 | KCNQ2 | c.1883A>G (p.Glu628Gly) c.1829A>G (p.Glu610Gly) n.14A>G c.1226A>G (p.Glu409Gly) c.1736A>G (p.Glu579Gly) c.1397A>G (p.Glu466Gly) c.1745A>G (p.Glu582Gly) c.1853A>G (p.Glu618Gly) c.1817A>G (p.Glu606Gly) c.1775A>G (p.Glu592Gly) c.1679+4979A>G (n.1679+4979A>G) c.1871A>G (p.Glu624Gly) c.1937A>G (p.Glu646Gly) c.1934A>G (p.Glu645Gly) c.1907A>G (p.Glu636Gly) c.1826A>G (p.Glu609Gly) c.1811A>G (p.Glu604Gly) c.1418A>G (p.Glu473Gly) c.1880A>G (p.Glu627Gly) c.1814A>G (p.Glu605Gly) c.1772A>G (p.Glu591Gly) c.845A>G (p.Glu282Gly) | |
20 | g.63408471T>G | CA409640322 | KCNQ2 | c.1883A>C (p.Glu628Ala) c.1829A>C (p.Glu610Ala) n.14A>C c.1226A>C (p.Glu409Ala) c.1736A>C (p.Glu579Ala) c.1397A>C (p.Glu466Ala) c.1745A>C (p.Glu582Ala) c.1853A>C (p.Glu618Ala) c.1817A>C (p.Glu606Ala) c.1775A>C (p.Glu592Ala) c.1679+4979A>C (n.1679+4979A>C) c.1871A>C (p.Glu624Ala) c.1937A>C (p.Glu646Ala) c.1934A>C (p.Glu645Ala) c.1907A>C (p.Glu636Ala) c.1826A>C (p.Glu609Ala) c.1811A>C (p.Glu604Ala) c.1418A>C (p.Glu473Ala) c.1880A>C (p.Glu627Ala) c.1814A>C (p.Glu605Ala) c.1772A>C (p.Glu591Ala) c.845A>C (p.Glu282Ala) | |
20 | g.63408472C>A | CA409640323 | KCNQ2 | c.1882G>T (p.Glu628Ter) c.1828G>T (p.Glu610Ter) n.13G>T c.1225G>T (p.Glu409Ter) c.1735G>T (p.Glu579Ter) c.1396G>T (p.Glu466Ter) c.1744G>T (p.Glu582Ter) c.1852G>T (p.Glu618Ter) c.1816G>T (p.Glu606Ter) c.1774G>T (p.Glu592Ter) c.1679+4978G>T (n.1679+4978G>T) c.1870G>T (p.Glu624Ter) c.1936G>T (p.Glu646Ter) c.1933G>T (p.Glu645Ter) c.1906G>T (p.Glu636Ter) c.1825G>T (p.Glu609Ter) c.1810G>T (p.Glu604Ter) c.1417G>T (p.Glu473Ter) c.1879G>T (p.Glu627Ter) c.1813G>T (p.Glu605Ter) c.1771G>T (p.Glu591Ter) c.844G>T (p.Glu282Ter) | gnomAD v4 |
20 | g.63408472C= | CA2374775216 | KCNQ2 | c.1882G= (p.Glu628=) c.1828G= (p.Glu610=) n.13G= c.1225G= (p.Glu409=) c.1735G= (p.Glu579=) c.1396G= (p.Glu466=) c.1744G= (p.Glu582=) c.1852G= (p.Glu618=) c.1816G= (p.Glu606=) c.1774G= (p.Glu592=) c.1679+4978G= (n.1679+4978G=) c.1870G= (p.Glu624=) c.1936G= (p.Glu646=) c.1933G= (p.Glu645=) c.1906G= (p.Glu636=) c.1825G= (p.Glu609=) c.1810G= (p.Glu604=) c.1417G= (p.Glu473=) c.1879G= (p.Glu627=) c.1813G= (p.Glu605=) c.1771G= (p.Glu591=) c.844G= (p.Glu282=) | |
20 | g.63408472C>G | CA409640324 | KCNQ2 | c.1882G>C (p.Glu628Gln) c.1828G>C (p.Glu610Gln) n.13G>C c.1225G>C (p.Glu409Gln) c.1735G>C (p.Glu579Gln) c.1396G>C (p.Glu466Gln) c.1744G>C (p.Glu582Gln) c.1852G>C (p.Glu618Gln) c.1816G>C (p.Glu606Gln) c.1774G>C (p.Glu592Gln) c.1679+4978G>C (n.1679+4978G>C) c.1870G>C (p.Glu624Gln) c.1936G>C (p.Glu646Gln) c.1933G>C (p.Glu645Gln) c.1906G>C (p.Glu636Gln) c.1825G>C (p.Glu609Gln) c.1810G>C (p.Glu604Gln) c.1417G>C (p.Glu473Gln) c.1879G>C (p.Glu627Gln) c.1813G>C (p.Glu605Gln) c.1771G>C (p.Glu591Gln) c.844G>C (p.Glu282Gln) | ClinVar dbSNP |
20 | g.63408472C>T | CA409640325 | KCNQ2 | c.1882G>A (p.Glu628Lys) c.1828G>A (p.Glu610Lys) n.13G>A c.1225G>A (p.Glu409Lys) c.1735G>A (p.Glu579Lys) c.1396G>A (p.Glu466Lys) c.1744G>A (p.Glu582Lys) c.1852G>A (p.Glu618Lys) c.1816G>A (p.Glu606Lys) c.1774G>A (p.Glu592Lys) c.1679+4978G>A (n.1679+4978G>A) c.1870G>A (p.Glu624Lys) c.1936G>A (p.Glu646Lys) c.1933G>A (p.Glu645Lys) c.1906G>A (p.Glu636Lys) c.1825G>A (p.Glu609Lys) c.1810G>A (p.Glu604Lys) c.1417G>A (p.Glu473Lys) c.1879G>A (p.Glu627Lys) c.1813G>A (p.Glu605Lys) c.1771G>A (p.Glu591Lys) c.844G>A (p.Glu282Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63408473G>A | CA291806 | KCNQ2 | c.1881C>T (p.Ala627=) c.1827C>T (p.Ala609=) n.12C>T c.1224C>T (p.Ala408=) c.1734C>T (p.Ala578=) c.1395C>T (p.Ala465=) c.1743C>T (p.Ala581=) c.1851C>T (p.Ala617=) c.1815C>T (p.Ala605=) c.1773C>T (p.Ala591=) c.1679+4977C>T (n.1679+4977C>T) c.1869C>T (p.Ala623=) c.1935C>T (p.Ala645=) c.1932C>T (p.Ala644=) c.1905C>T (p.Ala635=) c.1824C>T (p.Ala608=) c.1809C>T (p.Ala603=) c.1416C>T (p.Ala472=) c.1878C>T (p.Ala626=) c.1812C>T (p.Ala604=) c.1770C>T (p.Ala590=) c.843C>T (p.Ala281=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63408473G>C | CA511203561 | KCNQ2 | c.1881C>G (p.Ala627=) c.1827C>G (p.Ala609=) n.12C>G c.1224C>G (p.Ala408=) c.1734C>G (p.Ala578=) c.1395C>G (p.Ala465=) c.1743C>G (p.Ala581=) c.1851C>G (p.Ala617=) c.1815C>G (p.Ala605=) c.1773C>G (p.Ala591=) c.1679+4977C>G (n.1679+4977C>G) c.1869C>G (p.Ala623=) c.1935C>G (p.Ala645=) c.1932C>G (p.Ala644=) c.1905C>G (p.Ala635=) c.1824C>G (p.Ala608=) c.1809C>G (p.Ala603=) c.1416C>G (p.Ala472=) c.1878C>G (p.Ala626=) c.1812C>G (p.Ala604=) c.1770C>G (p.Ala590=) c.843C>G (p.Ala281=) | ClinVar |
20 | g.63408473G= | CA2374775217 | KCNQ2 | c.1881C= (p.Ala627=) c.1827C= (p.Ala609=) n.12C= c.1224C= (p.Ala408=) c.1734C= (p.Ala578=) c.1395C= (p.Ala465=) c.1743C= (p.Ala581=) c.1851C= (p.Ala617=) c.1815C= (p.Ala605=) c.1773C= (p.Ala591=) c.1679+4977C= (n.1679+4977C=) c.1869C= (p.Ala623=) c.1935C= (p.Ala645=) c.1932C= (p.Ala644=) c.1905C= (p.Ala635=) c.1824C= (p.Ala608=) c.1809C= (p.Ala603=) c.1416C= (p.Ala472=) c.1878C= (p.Ala626=) c.1812C= (p.Ala604=) c.1770C= (p.Ala590=) c.843C= (p.Ala281=) | |
20 | g.63408473G>T | CA511203560 | KCNQ2 | c.1881C>A (p.Ala627=) c.1827C>A (p.Ala609=) n.12C>A c.1224C>A (p.Ala408=) c.1734C>A (p.Ala578=) c.1395C>A (p.Ala465=) c.1743C>A (p.Ala581=) c.1851C>A (p.Ala617=) c.1815C>A (p.Ala605=) c.1773C>A (p.Ala591=) c.1679+4977C>A (n.1679+4977C>A) c.1869C>A (p.Ala623=) c.1935C>A (p.Ala645=) c.1932C>A (p.Ala644=) c.1905C>A (p.Ala635=) c.1824C>A (p.Ala608=) c.1809C>A (p.Ala603=) c.1416C>A (p.Ala472=) c.1878C>A (p.Ala626=) c.1812C>A (p.Ala604=) c.1770C>A (p.Ala590=) c.843C>A (p.Ala281=) | gnomAD v4 |
20 | g.63408474G>A | CA409640326 | KCNQ2 | c.1880C>T (p.Ala627Val) c.1826C>T (p.Ala609Val) n.11C>T c.1223C>T (p.Ala408Val) c.1733C>T (p.Ala578Val) c.1394C>T (p.Ala465Val) c.1742C>T (p.Ala581Val) c.1850C>T (p.Ala617Val) c.1814C>T (p.Ala605Val) c.1772C>T (p.Ala591Val) c.1679+4976C>T (n.1679+4976C>T) c.1868C>T (p.Ala623Val) c.1934C>T (p.Ala645Val) c.1931C>T (p.Ala644Val) c.1904C>T (p.Ala635Val) c.1823C>T (p.Ala608Val) c.1808C>T (p.Ala603Val) c.1415C>T (p.Ala472Val) c.1877C>T (p.Ala626Val) c.1811C>T (p.Ala604Val) c.1769C>T (p.Ala590Val) c.842C>T (p.Ala281Val) | gnomAD v4 |
20 | g.63408474G>C | CA409640327 | KCNQ2 | c.1880C>G (p.Ala627Gly) c.1826C>G (p.Ala609Gly) n.11C>G c.1223C>G (p.Ala408Gly) c.1733C>G (p.Ala578Gly) c.1394C>G (p.Ala465Gly) c.1742C>G (p.Ala581Gly) c.1850C>G (p.Ala617Gly) c.1814C>G (p.Ala605Gly) c.1772C>G (p.Ala591Gly) c.1679+4976C>G (n.1679+4976C>G) c.1868C>G (p.Ala623Gly) c.1934C>G (p.Ala645Gly) c.1931C>G (p.Ala644Gly) c.1904C>G (p.Ala635Gly) c.1823C>G (p.Ala608Gly) c.1808C>G (p.Ala603Gly) c.1415C>G (p.Ala472Gly) c.1877C>G (p.Ala626Gly) c.1811C>G (p.Ala604Gly) c.1769C>G (p.Ala590Gly) c.842C>G (p.Ala281Gly) | |
20 | g.63408474G>T | CA409640328 | KCNQ2 | c.1880C>A (p.Ala627Asp) c.1826C>A (p.Ala609Asp) n.11C>A c.1223C>A (p.Ala408Asp) c.1733C>A (p.Ala578Asp) c.1394C>A (p.Ala465Asp) c.1742C>A (p.Ala581Asp) c.1850C>A (p.Ala617Asp) c.1814C>A (p.Ala605Asp) c.1772C>A (p.Ala591Asp) c.1679+4976C>A (n.1679+4976C>A) c.1868C>A (p.Ala623Asp) c.1934C>A (p.Ala645Asp) c.1931C>A (p.Ala644Asp) c.1904C>A (p.Ala635Asp) c.1823C>A (p.Ala608Asp) c.1808C>A (p.Ala603Asp) c.1415C>A (p.Ala472Asp) c.1877C>A (p.Ala626Asp) c.1811C>A (p.Ala604Asp) c.1769C>A (p.Ala590Asp) c.842C>A (p.Ala281Asp) | gnomAD v4 |
20 | g.63408475C>A | CA409640331 | KCNQ2 | c.1879G>T (p.Ala627Ser) c.1825G>T (p.Ala609Ser) c.151G>T n.10G>T c.1222G>T (p.Ala408Ser) c.1732G>T (p.Ala578Ser) c.1393G>T (p.Ala465Ser) c.1741G>T (p.Ala581Ser) c.1849G>T (p.Ala617Ser) c.1813G>T (p.Ala605Ser) c.1771G>T (p.Ala591Ser) c.1679+4975G>T (n.1679+4975G>T) c.1867G>T (p.Ala623Ser) c.1933G>T (p.Ala645Ser) c.1930G>T (p.Ala644Ser) c.1903G>T (p.Ala635Ser) c.1822G>T (p.Ala608Ser) c.1807G>T (p.Ala603Ser) c.1414G>T (p.Ala472Ser) c.1876G>T (p.Ala626Ser) c.1810G>T (p.Ala604Ser) c.1768G>T (p.Ala590Ser) c.841G>T (p.Ala281Ser) | gnomAD v4 |
20 | g.63408475C>G | CA409640329 | KCNQ2 | c.1879G>C (p.Ala627Pro) c.1825G>C (p.Ala609Pro) c.151G>C n.10G>C c.1222G>C (p.Ala408Pro) c.1732G>C (p.Ala578Pro) c.1393G>C (p.Ala465Pro) c.1741G>C (p.Ala581Pro) c.1849G>C (p.Ala617Pro) c.1813G>C (p.Ala605Pro) c.1771G>C (p.Ala591Pro) c.1679+4975G>C (n.1679+4975G>C) c.1867G>C (p.Ala623Pro) c.1933G>C (p.Ala645Pro) c.1930G>C (p.Ala644Pro) c.1903G>C (p.Ala635Pro) c.1822G>C (p.Ala608Pro) c.1807G>C (p.Ala603Pro) c.1414G>C (p.Ala472Pro) c.1876G>C (p.Ala626Pro) c.1810G>C (p.Ala604Pro) c.1768G>C (p.Ala590Pro) c.841G>C (p.Ala281Pro) | |
20 | g.63408475C>T | CA409640330 | KCNQ2 | c.1879G>A (p.Ala627Thr) c.1825G>A (p.Ala609Thr) c.151G>A n.10G>A c.1222G>A (p.Ala408Thr) c.1732G>A (p.Ala578Thr) c.1393G>A (p.Ala465Thr) c.1741G>A (p.Ala581Thr) c.1849G>A (p.Ala617Thr) c.1813G>A (p.Ala605Thr) c.1771G>A (p.Ala591Thr) c.1679+4975G>A (n.1679+4975G>A) c.1867G>A (p.Ala623Thr) c.1933G>A (p.Ala645Thr) c.1930G>A (p.Ala644Thr) c.1903G>A (p.Ala635Thr) c.1822G>A (p.Ala608Thr) c.1807G>A (p.Ala603Thr) c.1414G>A (p.Ala472Thr) c.1876G>A (p.Ala626Thr) c.1810G>A (p.Ala604Thr) c.1768G>A (p.Ala590Thr) c.841G>A (p.Ala281Thr) | |
20 | g.63408476C>A | CA511203563 | KCNQ2 | c.1878G>T (p.Pro626=) c.1824G>T (p.Pro608=) c.150G>T n.9G>T c.1221G>T (p.Pro407=) c.1731G>T (p.Pro577=) c.1392G>T (p.Pro464=) c.1740G>T (p.Pro580=) c.1848G>T (p.Pro616=) c.1812G>T (p.Pro604=) c.1770G>T (p.Pro590=) c.1679+4974G>T (n.1679+4974G>T) c.1866G>T (p.Pro622=) c.1932G>T (p.Pro644=) c.1929G>T (p.Pro643=) c.1902G>T (p.Pro634=) c.1821G>T (p.Pro607=) c.1806G>T (p.Pro602=) c.1413G>T (p.Pro471=) c.1875G>T (p.Pro625=) c.1809G>T (p.Pro603=) c.1767G>T (p.Pro589=) c.840G>T (p.Pro280=) | |
20 | g.63408476C= | CA2374775218 | KCNQ2 | c.1878G= (p.Pro626=) c.1824G= (p.Pro608=) c.150G= n.9G= c.1221G= (p.Pro407=) c.1731G= (p.Pro577=) c.1392G= (p.Pro464=) c.1740G= (p.Pro580=) c.1848G= (p.Pro616=) c.1812G= (p.Pro604=) c.1770G= (p.Pro590=) c.1679+4974G= (n.1679+4974G=) c.1866G= (p.Pro622=) c.1932G= (p.Pro644=) c.1929G= (p.Pro643=) c.1902G= (p.Pro634=) c.1821G= (p.Pro607=) c.1806G= (p.Pro602=) c.1413G= (p.Pro471=) c.1875G= (p.Pro625=) c.1809G= (p.Pro603=) c.1767G= (p.Pro589=) c.840G= (p.Pro280=) | |
20 | g.63408476C>G | CA511203562 | KCNQ2 | c.1878G>C (p.Pro626=) c.1824G>C (p.Pro608=) c.150G>C n.9G>C c.1221G>C (p.Pro407=) c.1731G>C (p.Pro577=) c.1392G>C (p.Pro464=) c.1740G>C (p.Pro580=) c.1848G>C (p.Pro616=) c.1812G>C (p.Pro604=) c.1770G>C (p.Pro590=) c.1679+4974G>C (n.1679+4974G>C) c.1866G>C (p.Pro622=) c.1932G>C (p.Pro644=) c.1929G>C (p.Pro643=) c.1902G>C (p.Pro634=) c.1821G>C (p.Pro607=) c.1806G>C (p.Pro602=) c.1413G>C (p.Pro471=) c.1875G>C (p.Pro625=) c.1809G>C (p.Pro603=) c.1767G>C (p.Pro589=) c.840G>C (p.Pro280=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63408476C>T | CA9958236 | KCNQ2 | c.1878G>A (p.Pro626=) c.1824G>A (p.Pro608=) c.150G>A n.9G>A c.1221G>A (p.Pro407=) c.1731G>A (p.Pro577=) c.1392G>A (p.Pro464=) c.1740G>A (p.Pro580=) c.1848G>A (p.Pro616=) c.1812G>A (p.Pro604=) c.1770G>A (p.Pro590=) c.1679+4974G>A (n.1679+4974G>A) c.1866G>A (p.Pro622=) c.1932G>A (p.Pro644=) c.1929G>A (p.Pro643=) c.1902G>A (p.Pro634=) c.1821G>A (p.Pro607=) c.1806G>A (p.Pro602=) c.1413G>A (p.Pro471=) c.1875G>A (p.Pro625=) c.1809G>A (p.Pro603=) c.1767G>A (p.Pro589=) c.840G>A (p.Pro280=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63408477G>A | CA9958237 | KCNQ2 | c.1877C>T (p.Pro626Leu) c.1823C>T (p.Pro608Leu) c.149C>T n.8C>T c.1220C>T (p.Pro407Leu) c.1730C>T (p.Pro577Leu) c.1391C>T (p.Pro464Leu) c.1739C>T (p.Pro580Leu) c.1847C>T (p.Pro616Leu) c.1811C>T (p.Pro604Leu) c.1769C>T (p.Pro590Leu) c.1679+4973C>T (n.1679+4973C>T) c.1865C>T (p.Pro622Leu) c.1931C>T (p.Pro644Leu) c.1928C>T (p.Pro643Leu) c.1901C>T (p.Pro634Leu) c.1820C>T (p.Pro607Leu) c.1805C>T (p.Pro602Leu) c.1412C>T (p.Pro471Leu) c.1874C>T (p.Pro625Leu) c.1808C>T (p.Pro603Leu) c.1766C>T (p.Pro589Leu) c.839C>T (p.Pro280Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63408477G>C | CA409640332 | KCNQ2 | c.1877C>G (p.Pro626Arg) c.1823C>G (p.Pro608Arg) c.149C>G n.8C>G c.1220C>G (p.Pro407Arg) c.1730C>G (p.Pro577Arg) c.1391C>G (p.Pro464Arg) c.1739C>G (p.Pro580Arg) c.1847C>G (p.Pro616Arg) c.1811C>G (p.Pro604Arg) c.1769C>G (p.Pro590Arg) c.1679+4973C>G (n.1679+4973C>G) c.1865C>G (p.Pro622Arg) c.1931C>G (p.Pro644Arg) c.1928C>G (p.Pro643Arg) c.1901C>G (p.Pro634Arg) c.1820C>G (p.Pro607Arg) c.1805C>G (p.Pro602Arg) c.1412C>G (p.Pro471Arg) c.1874C>G (p.Pro625Arg) c.1808C>G (p.Pro603Arg) c.1766C>G (p.Pro589Arg) c.839C>G (p.Pro280Arg) | |
20 | g.63408477G= | CA2374775219 | KCNQ2 | c.1877C= (p.Pro626=) c.1823C= (p.Pro608=) c.149C= n.8C= c.1220C= (p.Pro407=) c.1730C= (p.Pro577=) c.1391C= (p.Pro464=) c.1739C= (p.Pro580=) c.1847C= (p.Pro616=) c.1811C= (p.Pro604=) c.1769C= (p.Pro590=) c.1679+4973C= (n.1679+4973C=) c.1865C= (p.Pro622=) c.1931C= (p.Pro644=) c.1928C= (p.Pro643=) c.1901C= (p.Pro634=) c.1820C= (p.Pro607=) c.1805C= (p.Pro602=) c.1412C= (p.Pro471=) c.1874C= (p.Pro625=) c.1808C= (p.Pro603=) c.1766C= (p.Pro589=) c.839C= (p.Pro280=) | |
20 | g.63408477G>T | CA409640333 | KCNQ2 | c.1877C>A (p.Pro626Gln) c.1823C>A (p.Pro608Gln) c.149C>A n.8C>A c.1220C>A (p.Pro407Gln) c.1730C>A (p.Pro577Gln) c.1391C>A (p.Pro464Gln) c.1739C>A (p.Pro580Gln) c.1847C>A (p.Pro616Gln) c.1811C>A (p.Pro604Gln) c.1769C>A (p.Pro590Gln) c.1679+4973C>A (n.1679+4973C>A) c.1865C>A (p.Pro622Gln) c.1931C>A (p.Pro644Gln) c.1928C>A (p.Pro643Gln) c.1901C>A (p.Pro634Gln) c.1820C>A (p.Pro607Gln) c.1805C>A (p.Pro602Gln) c.1412C>A (p.Pro471Gln) c.1874C>A (p.Pro625Gln) c.1808C>A (p.Pro603Gln) c.1766C>A (p.Pro589Gln) c.839C>A (p.Pro280Gln) | ClinVar dbSNP |
20 | g.63408479del | CA2573054902 | KCNQ2 | c.1877del (p.Pro626ArgfsTer12) c.1823del (p.Pro608ArgfsTer12) c.149del n.8del c.1220del (p.Pro407ArgfsTer12) c.1730del (p.Pro577ArgfsTer12) c.1391del (p.Pro464ArgfsTer12) c.1739del (p.Pro580ArgfsTer12) c.1847del (p.Pro616ArgfsTer12) c.1811del (p.Pro604ArgfsTer12) c.1769del (p.Pro590ArgfsTer12) c.1679+4973del (n.1679+4973del) c.1865del (p.Pro622ArgfsTer12) c.1931del (p.Pro644ArgfsTer12) c.1928del (p.Pro643ArgfsTer12) c.1901del (p.Pro634ArgfsTer12) c.1820del (p.Pro607ArgfsTer12) c.1805del (p.Pro602ArgfsTer12) c.1412del (p.Pro471ArgfsTer12) c.1874del (p.Pro625ArgfsTer12) c.1808del (p.Pro603ArgfsTer12) c.1766del (p.Pro589ArgfsTer12) c.839del (p.Pro280ArgfsTer12) | ClinVar dbSNP |
20 | g.63408478G>A | CA409640334 | KCNQ2 | c.1876C>T (p.Pro626Ser) c.1822C>T (p.Pro608Ser) c.148C>T n.7C>T c.1219C>T (p.Pro407Ser) c.1729C>T (p.Pro577Ser) c.1390C>T (p.Pro464Ser) c.1738C>T (p.Pro580Ser) c.1846C>T (p.Pro616Ser) c.1810C>T (p.Pro604Ser) c.1768C>T (p.Pro590Ser) c.1679+4972C>T (n.1679+4972C>T) c.1864C>T (p.Pro622Ser) c.1930C>T (p.Pro644Ser) c.1927C>T (p.Pro643Ser) c.1900C>T (p.Pro634Ser) c.1819C>T (p.Pro607Ser) c.1804C>T (p.Pro602Ser) c.1411C>T (p.Pro471Ser) c.1873C>T (p.Pro625Ser) c.1807C>T (p.Pro603Ser) c.1765C>T (p.Pro589Ser) c.838C>T (p.Pro280Ser) | |
20 | g.63408478G>C | CA9958238 | KCNQ2 | c.1876C>G (p.Pro626Ala) c.1822C>G (p.Pro608Ala) c.148C>G n.7C>G c.1219C>G (p.Pro407Ala) c.1729C>G (p.Pro577Ala) c.1390C>G (p.Pro464Ala) c.1738C>G (p.Pro580Ala) c.1846C>G (p.Pro616Ala) c.1810C>G (p.Pro604Ala) c.1768C>G (p.Pro590Ala) c.1679+4972C>G (n.1679+4972C>G) c.1864C>G (p.Pro622Ala) c.1930C>G (p.Pro644Ala) c.1927C>G (p.Pro643Ala) c.1900C>G (p.Pro634Ala) c.1819C>G (p.Pro607Ala) c.1804C>G (p.Pro602Ala) c.1411C>G (p.Pro471Ala) c.1873C>G (p.Pro625Ala) c.1807C>G (p.Pro603Ala) c.1765C>G (p.Pro589Ala) c.838C>G (p.Pro280Ala) | dbSNP ExAC gnomAD v2 |
20 | g.63408478G= | CA2374775220 | KCNQ2 | c.1876C= (p.Pro626=) c.1822C= (p.Pro608=) c.148C= n.7C= c.1219C= (p.Pro407=) c.1729C= (p.Pro577=) c.1390C= (p.Pro464=) c.1738C= (p.Pro580=) c.1846C= (p.Pro616=) c.1810C= (p.Pro604=) c.1768C= (p.Pro590=) c.1679+4972C= (n.1679+4972C=) c.1864C= (p.Pro622=) c.1930C= (p.Pro644=) c.1927C= (p.Pro643=) c.1900C= (p.Pro634=) c.1819C= (p.Pro607=) c.1804C= (p.Pro602=) c.1411C= (p.Pro471=) c.1873C= (p.Pro625=) c.1807C= (p.Pro603=) c.1765C= (p.Pro589=) c.838C= (p.Pro280=) | |
20 | g.63408478G>T | CA409640335 | KCNQ2 | c.1876C>A (p.Pro626Thr) c.1822C>A (p.Pro608Thr) c.148C>A n.7C>A c.1219C>A (p.Pro407Thr) c.1729C>A (p.Pro577Thr) c.1390C>A (p.Pro464Thr) c.1738C>A (p.Pro580Thr) c.1846C>A (p.Pro616Thr) c.1810C>A (p.Pro604Thr) c.1768C>A (p.Pro590Thr) c.1679+4972C>A (n.1679+4972C>A) c.1864C>A (p.Pro622Thr) c.1930C>A (p.Pro644Thr) c.1927C>A (p.Pro643Thr) c.1900C>A (p.Pro634Thr) c.1819C>A (p.Pro607Thr) c.1804C>A (p.Pro602Thr) c.1411C>A (p.Pro471Thr) c.1873C>A (p.Pro625Thr) c.1807C>A (p.Pro603Thr) c.1765C>A (p.Pro589Thr) c.838C>A (p.Pro280Thr) | |
20 | g.63408479G>A | CA511203564 | KCNQ2 | c.1875C>T (p.Gly625=) c.1821C>T (p.Gly607=) c.147C>T n.6C>T c.1218C>T (p.Gly406=) c.1728C>T (p.Gly576=) c.1389C>T (p.Gly463=) c.1737C>T (p.Gly579=) c.1845C>T (p.Gly615=) c.1809C>T (p.Gly603=) c.1767C>T (p.Gly589=) c.1679+4971C>T (n.1679+4971C>T) c.1863C>T (p.Gly621=) c.1929C>T (p.Gly643=) c.1926C>T (p.Gly642=) c.1899C>T (p.Gly633=) c.1818C>T (p.Gly606=) c.1803C>T (p.Gly601=) c.1410C>T (p.Gly470=) c.1872C>T (p.Gly624=) c.1806C>T (p.Gly602=) c.1764C>T (p.Gly588=) c.837C>T (p.Gly279=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63408479G>C | CA511203566 | KCNQ2 | c.1875C>G (p.Gly625=) c.1821C>G (p.Gly607=) c.147C>G n.6C>G c.1218C>G (p.Gly406=) c.1728C>G (p.Gly576=) c.1389C>G (p.Gly463=) c.1737C>G (p.Gly579=) c.1845C>G (p.Gly615=) c.1809C>G (p.Gly603=) c.1767C>G (p.Gly589=) c.1679+4971C>G (n.1679+4971C>G) c.1863C>G (p.Gly621=) c.1929C>G (p.Gly643=) c.1926C>G (p.Gly642=) c.1899C>G (p.Gly633=) c.1818C>G (p.Gly606=) c.1803C>G (p.Gly601=) c.1410C>G (p.Gly470=) c.1872C>G (p.Gly624=) c.1806C>G (p.Gly602=) c.1764C>G (p.Gly588=) c.837C>G (p.Gly279=) | |
20 | g.63408479G= | CA2374775221 | KCNQ2 | c.1875C= (p.Gly625=) c.1821C= (p.Gly607=) c.147C= n.6C= c.1218C= (p.Gly406=) c.1728C= (p.Gly576=) c.1389C= (p.Gly463=) c.1737C= (p.Gly579=) c.1845C= (p.Gly615=) c.1809C= (p.Gly603=) c.1767C= (p.Gly589=) c.1679+4971C= (n.1679+4971C=) c.1863C= (p.Gly621=) c.1929C= (p.Gly643=) c.1926C= (p.Gly642=) c.1899C= (p.Gly633=) c.1818C= (p.Gly606=) c.1803C= (p.Gly601=) c.1410C= (p.Gly470=) c.1872C= (p.Gly624=) c.1806C= (p.Gly602=) c.1764C= (p.Gly588=) c.837C= (p.Gly279=) | |
20 | g.63408479G>T | CA511203565 | KCNQ2 | c.1875C>A (p.Gly625=) c.1821C>A (p.Gly607=) c.147C>A n.6C>A c.1218C>A (p.Gly406=) c.1728C>A (p.Gly576=) c.1389C>A (p.Gly463=) c.1737C>A (p.Gly579=) c.1845C>A (p.Gly615=) c.1809C>A (p.Gly603=) c.1767C>A (p.Gly589=) c.1679+4971C>A (n.1679+4971C>A) c.1863C>A (p.Gly621=) c.1929C>A (p.Gly643=) c.1926C>A (p.Gly642=) c.1899C>A (p.Gly633=) c.1818C>A (p.Gly606=) c.1803C>A (p.Gly601=) c.1410C>A (p.Gly470=) c.1872C>A (p.Gly624=) c.1806C>A (p.Gly602=) c.1764C>A (p.Gly588=) c.837C>A (p.Gly279=) | gnomAD v4 |
20 | g.63408479_63408480delinsGC | CA2374775222 | KCNQ2 | c.1874_1875delinsGC (p.Gly625=) c.1820_1821delinsGC (p.Gly607=) c.146_147delinsGC n.5_6delinsGC c.1217_1218delinsGC (p.Gly406=) c.1727_1728delinsGC (p.Gly576=) c.1388_1389delinsGC (p.Gly463=) c.1736_1737delinsGC (p.Gly579=) c.1844_1845delinsGC (p.Gly615=) c.1808_1809delinsGC (p.Gly603=) c.1766_1767delinsGC (p.Gly589=) c.1679+4970_1679+4971delinsGC (n.1679+4970_1679+4971delinsGC) c.1862_1863delinsGC (p.Gly621=) c.1928_1929delinsGC (p.Gly643=) c.1925_1926delinsGC (p.Gly642=) c.1898_1899delinsGC (p.Gly633=) c.1817_1818delinsGC (p.Gly606=) c.1802_1803delinsGC (p.Gly601=) c.1409_1410delinsGC (p.Gly470=) c.1871_1872delinsGC (p.Gly624=) c.1805_1806delinsGC (p.Gly602=) c.1763_1764delinsGC (p.Gly588=) c.836_837delinsGC (p.Gly279=) | |
20 | g.63408480C>A | CA409640336 | KCNQ2 | c.1874G>T (p.Gly625Val) c.1820G>T (p.Gly607Val) c.146G>T n.5G>T c.1217G>T (p.Gly406Val) c.1727G>T (p.Gly576Val) c.1388G>T (p.Gly463Val) c.1736G>T (p.Gly579Val) c.1844G>T (p.Gly615Val) c.1808G>T (p.Gly603Val) c.1766G>T (p.Gly589Val) c.1679+4970G>T (n.1679+4970G>T) c.1862G>T (p.Gly621Val) c.1928G>T (p.Gly643Val) c.1925G>T (p.Gly642Val) c.1898G>T (p.Gly633Val) c.1817G>T (p.Gly606Val) c.1802G>T (p.Gly601Val) c.1409G>T (p.Gly470Val) c.1871G>T (p.Gly624Val) c.1805G>T (p.Gly602Val) c.1763G>T (p.Gly588Val) c.836G>T (p.Gly279Val) | dbSNP gnomAD v4 |
20 | g.63408480C= | CA2374775223 | KCNQ2 | c.1874G= (p.Gly625=) c.1820G= (p.Gly607=) c.146G= n.5G= c.1217G= (p.Gly406=) c.1727G= (p.Gly576=) c.1388G= (p.Gly463=) c.1736G= (p.Gly579=) c.1844G= (p.Gly615=) c.1808G= (p.Gly603=) c.1766G= (p.Gly589=) c.1679+4970G= (n.1679+4970G=) c.1862G= (p.Gly621=) c.1928G= (p.Gly643=) c.1925G= (p.Gly642=) c.1898G= (p.Gly633=) c.1817G= (p.Gly606=) c.1802G= (p.Gly601=) c.1409G= (p.Gly470=) c.1871G= (p.Gly624=) c.1805G= (p.Gly602=) c.1763G= (p.Gly588=) c.836G= (p.Gly279=) | |
20 | g.63408480C>G | CA409640337 | KCNQ2 | c.1874G>C (p.Gly625Ala) c.1820G>C (p.Gly607Ala) c.146G>C n.5G>C c.1217G>C (p.Gly406Ala) c.1727G>C (p.Gly576Ala) c.1388G>C (p.Gly463Ala) c.1736G>C (p.Gly579Ala) c.1844G>C (p.Gly615Ala) c.1808G>C (p.Gly603Ala) c.1766G>C (p.Gly589Ala) c.1679+4970G>C (n.1679+4970G>C) c.1862G>C (p.Gly621Ala) c.1928G>C (p.Gly643Ala) c.1925G>C (p.Gly642Ala) c.1898G>C (p.Gly633Ala) c.1817G>C (p.Gly606Ala) c.1802G>C (p.Gly601Ala) c.1409G>C (p.Gly470Ala) c.1871G>C (p.Gly624Ala) c.1805G>C (p.Gly602Ala) c.1763G>C (p.Gly588Ala) c.836G>C (p.Gly279Ala) | |
20 | g.63408480C>T | CA409640338 | KCNQ2 | c.1874G>A (p.Gly625Asp) c.1820G>A (p.Gly607Asp) c.146G>A n.5G>A c.1217G>A (p.Gly406Asp) c.1727G>A (p.Gly576Asp) c.1388G>A (p.Gly463Asp) c.1736G>A (p.Gly579Asp) c.1844G>A (p.Gly615Asp) c.1808G>A (p.Gly603Asp) c.1766G>A (p.Gly589Asp) c.1679+4970G>A (n.1679+4970G>A) c.1862G>A (p.Gly621Asp) c.1928G>A (p.Gly643Asp) c.1925G>A (p.Gly642Asp) c.1898G>A (p.Gly633Asp) c.1817G>A (p.Gly606Asp) c.1802G>A (p.Gly601Asp) c.1409G>A (p.Gly470Asp) c.1871G>A (p.Gly624Asp) c.1805G>A (p.Gly602Asp) c.1763G>A (p.Gly588Asp) c.836G>A (p.Gly279Asp) | |
20 | g.63408482del | CA658799398 | KCNQ2 | c.1874del (p.Gly625AlafsTer13) c.1820del (p.Gly607AlafsTer13) c.146del n.5del c.1217del (p.Gly406AlafsTer13) c.1727del (p.Gly576AlafsTer13) c.1388del (p.Gly463AlafsTer13) c.1736del (p.Gly579AlafsTer13) c.1844del (p.Gly615AlafsTer13) c.1808del (p.Gly603AlafsTer13) c.1766del (p.Gly589AlafsTer13) c.1679+4970del (n.1679+4970del) c.1862del (p.Gly621AlafsTer13) c.1928del (p.Gly643AlafsTer13) c.1925del (p.Gly642AlafsTer13) c.1898del (p.Gly633AlafsTer13) c.1817del (p.Gly606AlafsTer13) c.1802del (p.Gly601AlafsTer13) c.1409del (p.Gly470AlafsTer13) c.1871del (p.Gly624AlafsTer13) c.1805del (p.Gly602AlafsTer13) c.1763del (p.Gly588AlafsTer13) c.836del (p.Gly279AlafsTer13) | ClinVar dbSNP |
20 | g.63408481C>A | CA409640341 | KCNQ2 | c.1873G>T (p.Gly625Cys) c.1819G>T (p.Gly607Cys) c.145G>T n.4G>T c.1216G>T (p.Gly406Cys) c.1726G>T (p.Gly576Cys) c.1387G>T (p.Gly463Cys) c.1735G>T (p.Gly579Cys) c.1843G>T (p.Gly615Cys) c.1807G>T (p.Gly603Cys) c.1765G>T (p.Gly589Cys) c.1679+4969G>T (n.1679+4969G>T) c.1861G>T (p.Gly621Cys) c.1927G>T (p.Gly643Cys) c.1924G>T (p.Gly642Cys) c.1897G>T (p.Gly633Cys) c.1816G>T (p.Gly606Cys) c.1801G>T (p.Gly601Cys) c.1408G>T (p.Gly470Cys) c.1870G>T (p.Gly624Cys) c.1804G>T (p.Gly602Cys) c.1762G>T (p.Gly588Cys) c.835G>T (p.Gly279Cys) | ClinVar dbSNP |
20 | g.63408481C= | CA2374775224 | KCNQ2 | c.1873G= (p.Gly625=) c.1819G= (p.Gly607=) c.145G= n.4G= c.1216G= (p.Gly406=) c.1726G= (p.Gly576=) c.1387G= (p.Gly463=) c.1735G= (p.Gly579=) c.1843G= (p.Gly615=) c.1807G= (p.Gly603=) c.1765G= (p.Gly589=) c.1679+4969G= (n.1679+4969G=) c.1861G= (p.Gly621=) c.1927G= (p.Gly643=) c.1924G= (p.Gly642=) c.1897G= (p.Gly633=) c.1816G= (p.Gly606=) c.1801G= (p.Gly601=) c.1408G= (p.Gly470=) c.1870G= (p.Gly624=) c.1804G= (p.Gly602=) c.1762G= (p.Gly588=) c.835G= (p.Gly279=) | |
20 | g.63408481C>G | CA409640340 | KCNQ2 | c.1873G>C (p.Gly625Arg) c.1819G>C (p.Gly607Arg) c.145G>C n.4G>C c.1216G>C (p.Gly406Arg) c.1726G>C (p.Gly576Arg) c.1387G>C (p.Gly463Arg) c.1735G>C (p.Gly579Arg) c.1843G>C (p.Gly615Arg) c.1807G>C (p.Gly603Arg) c.1765G>C (p.Gly589Arg) c.1679+4969G>C (n.1679+4969G>C) c.1861G>C (p.Gly621Arg) c.1927G>C (p.Gly643Arg) c.1924G>C (p.Gly642Arg) c.1897G>C (p.Gly633Arg) c.1816G>C (p.Gly606Arg) c.1801G>C (p.Gly601Arg) c.1408G>C (p.Gly470Arg) c.1870G>C (p.Gly624Arg) c.1804G>C (p.Gly602Arg) c.1762G>C (p.Gly588Arg) c.835G>C (p.Gly279Arg) | |
20 | g.63408481C>T | CA409640339 | KCNQ2 | c.1873G>A (p.Gly625Ser) c.1819G>A (p.Gly607Ser) c.145G>A n.4G>A c.1216G>A (p.Gly406Ser) c.1726G>A (p.Gly576Ser) c.1387G>A (p.Gly463Ser) c.1735G>A (p.Gly579Ser) c.1843G>A (p.Gly615Ser) c.1807G>A (p.Gly603Ser) c.1765G>A (p.Gly589Ser) c.1679+4969G>A (n.1679+4969G>A) c.1861G>A (p.Gly621Ser) c.1927G>A (p.Gly643Ser) c.1924G>A (p.Gly642Ser) c.1897G>A (p.Gly633Ser) c.1816G>A (p.Gly606Ser) c.1801G>A (p.Gly601Ser) c.1408G>A (p.Gly470Ser) c.1870G>A (p.Gly624Ser) c.1804G>A (p.Gly602Ser) c.1762G>A (p.Gly588Ser) c.835G>A (p.Gly279Ser) | gnomAD v4 |
20 | g.63408482C>A | CA409640342 | KCNQ2 | c.1872G>T (p.Lys624Asn) c.1818G>T (p.Lys606Asn) c.144G>T n.3G>T c.1215G>T (p.Lys405Asn) c.1725G>T (p.Lys575Asn) c.1386G>T (p.Lys462Asn) c.1734G>T (p.Lys578Asn) c.1842G>T (p.Lys614Asn) c.1806G>T (p.Lys602Asn) c.1764G>T (p.Lys588Asn) c.1679+4968G>T (n.1679+4968G>T) c.1860G>T (p.Lys620Asn) c.1926G>T (p.Lys642Asn) c.1923G>T (p.Lys641Asn) c.1896G>T (p.Lys632Asn) c.1815G>T (p.Lys605Asn) c.1800G>T (p.Lys600Asn) c.1407G>T (p.Lys469Asn) c.1869G>T (p.Lys623Asn) c.1803G>T (p.Lys601Asn) c.1761G>T (p.Lys587Asn) c.834G>T (p.Lys278Asn) | |
20 | g.63408482C>G | CA409640343 | KCNQ2 | c.1872G>C (p.Lys624Asn) c.1818G>C (p.Lys606Asn) c.144G>C n.3G>C c.1215G>C (p.Lys405Asn) c.1725G>C (p.Lys575Asn) c.1386G>C (p.Lys462Asn) c.1734G>C (p.Lys578Asn) c.1842G>C (p.Lys614Asn) c.1806G>C (p.Lys602Asn) c.1764G>C (p.Lys588Asn) c.1679+4968G>C (n.1679+4968G>C) c.1860G>C (p.Lys620Asn) c.1926G>C (p.Lys642Asn) c.1923G>C (p.Lys641Asn) c.1896G>C (p.Lys632Asn) c.1815G>C (p.Lys605Asn) c.1800G>C (p.Lys600Asn) c.1407G>C (p.Lys469Asn) c.1869G>C (p.Lys623Asn) c.1803G>C (p.Lys601Asn) c.1761G>C (p.Lys587Asn) c.834G>C (p.Lys278Asn) | |
20 | g.63408482C>T | CA511203567 | KCNQ2 | c.1872G>A (p.Lys624=) c.1818G>A (p.Lys606=) c.144G>A n.3G>A c.1215G>A (p.Lys405=) c.1725G>A (p.Lys575=) c.1386G>A (p.Lys462=) c.1734G>A (p.Lys578=) c.1842G>A (p.Lys614=) c.1806G>A (p.Lys602=) c.1764G>A (p.Lys588=) c.1679+4968G>A (n.1679+4968G>A) c.1860G>A (p.Lys620=) c.1926G>A (p.Lys642=) c.1923G>A (p.Lys641=) c.1896G>A (p.Lys632=) c.1815G>A (p.Lys605=) c.1800G>A (p.Lys600=) c.1407G>A (p.Lys469=) c.1869G>A (p.Lys623=) c.1803G>A (p.Lys601=) c.1761G>A (p.Lys587=) c.834G>A (p.Lys278=) | |
20 | g.63408483T>A | CA409640344 | KCNQ2 | c.1871A>T (p.Lys624Met) c.1817A>T (p.Lys606Met) c.143A>T n.2A>T c.1214A>T (p.Lys405Met) c.1724A>T (p.Lys575Met) c.1385A>T (p.Lys462Met) c.1733A>T (p.Lys578Met) c.1841A>T (p.Lys614Met) c.1805A>T (p.Lys602Met) c.1763A>T (p.Lys588Met) c.1679+4967A>T (n.1679+4967A>T) c.1859A>T (p.Lys620Met) c.1925A>T (p.Lys642Met) c.1922A>T (p.Lys641Met) c.1895A>T (p.Lys632Met) c.1814A>T (p.Lys605Met) c.1799A>T (p.Lys600Met) c.1406A>T (p.Lys469Met) c.1868A>T (p.Lys623Met) c.1802A>T (p.Lys601Met) c.1760A>T (p.Lys587Met) c.833A>T (p.Lys278Met) | |
20 | g.63408483T>C | CA409640345 | KCNQ2 | c.1871A>G (p.Lys624Arg) c.1817A>G (p.Lys606Arg) c.143A>G n.2A>G c.1214A>G (p.Lys405Arg) c.1724A>G (p.Lys575Arg) c.1385A>G (p.Lys462Arg) c.1733A>G (p.Lys578Arg) c.1841A>G (p.Lys614Arg) c.1805A>G (p.Lys602Arg) c.1763A>G (p.Lys588Arg) c.1679+4967A>G (n.1679+4967A>G) c.1859A>G (p.Lys620Arg) c.1925A>G (p.Lys642Arg) c.1922A>G (p.Lys641Arg) c.1895A>G (p.Lys632Arg) c.1814A>G (p.Lys605Arg) c.1799A>G (p.Lys600Arg) c.1406A>G (p.Lys469Arg) c.1868A>G (p.Lys623Arg) c.1802A>G (p.Lys601Arg) c.1760A>G (p.Lys587Arg) c.833A>G (p.Lys278Arg) | gnomAD v4 |
20 | g.63408483T>G | CA409640346 | KCNQ2 | c.1871A>C (p.Lys624Thr) c.1817A>C (p.Lys606Thr) c.143A>C n.2A>C c.1214A>C (p.Lys405Thr) c.1724A>C (p.Lys575Thr) c.1385A>C (p.Lys462Thr) c.1733A>C (p.Lys578Thr) c.1841A>C (p.Lys614Thr) c.1805A>C (p.Lys602Thr) c.1763A>C (p.Lys588Thr) c.1679+4967A>C (n.1679+4967A>C) c.1859A>C (p.Lys620Thr) c.1925A>C (p.Lys642Thr) c.1922A>C (p.Lys641Thr) c.1895A>C (p.Lys632Thr) c.1814A>C (p.Lys605Thr) c.1799A>C (p.Lys600Thr) c.1406A>C (p.Lys469Thr) c.1868A>C (p.Lys623Thr) c.1802A>C (p.Lys601Thr) c.1760A>C (p.Lys587Thr) c.833A>C (p.Lys278Thr) | |
20 | g.63408484T>A | CA409640349 | KCNQ2 | c.1870A>T (p.Lys624Ter) c.1816A>T (p.Lys606Ter) c.142A>T n.1A>T c.1213A>T (p.Lys405Ter) c.1723A>T (p.Lys575Ter) c.1384A>T (p.Lys462Ter) c.1732A>T (p.Lys578Ter) c.1840A>T (p.Lys614Ter) c.1804A>T (p.Lys602Ter) c.1762A>T (p.Lys588Ter) c.1679+4966A>T (n.1679+4966A>T) c.1858A>T (p.Lys620Ter) c.1924A>T (p.Lys642Ter) c.1921A>T (p.Lys641Ter) c.1894A>T (p.Lys632Ter) c.1813A>T (p.Lys605Ter) c.1798A>T (p.Lys600Ter) c.1405A>T (p.Lys469Ter) c.1867A>T (p.Lys623Ter) c.1801A>T (p.Lys601Ter) c.1759A>T (p.Lys587Ter) c.832A>T (p.Lys278Ter) | ClinVar dbSNP |
20 | g.63408484T>C | CA409640348 | KCNQ2 | c.1870A>G (p.Lys624Glu) c.1816A>G (p.Lys606Glu) c.142A>G n.1A>G c.1213A>G (p.Lys405Glu) c.1723A>G (p.Lys575Glu) c.1384A>G (p.Lys462Glu) c.1732A>G (p.Lys578Glu) c.1840A>G (p.Lys614Glu) c.1804A>G (p.Lys602Glu) c.1762A>G (p.Lys588Glu) c.1679+4966A>G (n.1679+4966A>G) c.1858A>G (p.Lys620Glu) c.1924A>G (p.Lys642Glu) c.1921A>G (p.Lys641Glu) c.1894A>G (p.Lys632Glu) c.1813A>G (p.Lys605Glu) c.1798A>G (p.Lys600Glu) c.1405A>G (p.Lys469Glu) c.1867A>G (p.Lys623Glu) c.1801A>G (p.Lys601Glu) c.1759A>G (p.Lys587Glu) c.832A>G (p.Lys278Glu) | |
20 | g.63408484T>G | CA409640347 | KCNQ2 | c.1870A>C (p.Lys624Gln) c.1816A>C (p.Lys606Gln) c.142A>C n.1A>C c.1213A>C (p.Lys405Gln) c.1723A>C (p.Lys575Gln) c.1384A>C (p.Lys462Gln) c.1732A>C (p.Lys578Gln) c.1840A>C (p.Lys614Gln) c.1804A>C (p.Lys602Gln) c.1762A>C (p.Lys588Gln) c.1679+4966A>C (n.1679+4966A>C) c.1858A>C (p.Lys620Gln) c.1924A>C (p.Lys642Gln) c.1921A>C (p.Lys641Gln) c.1894A>C (p.Lys632Gln) c.1813A>C (p.Lys605Gln) c.1798A>C (p.Lys600Gln) c.1405A>C (p.Lys469Gln) c.1867A>C (p.Lys623Gln) c.1801A>C (p.Lys601Gln) c.1759A>C (p.Lys587Gln) c.832A>C (p.Lys278Gln) | |
20 | g.63408484T= | CA2374775225 | KCNQ2 | c.1870A= (p.Lys624=) c.1816A= (p.Lys606=) c.142A= n.1A= c.1213A= (p.Lys405=) c.1723A= (p.Lys575=) c.1384A= (p.Lys462=) c.1732A= (p.Lys578=) c.1840A= (p.Lys614=) c.1804A= (p.Lys602=) c.1762A= (p.Lys588=) c.1679+4966A= (n.1679+4966A=) c.1858A= (p.Lys620=) c.1924A= (p.Lys642=) c.1921A= (p.Lys641=) c.1894A= (p.Lys632=) c.1813A= (p.Lys605=) c.1798A= (p.Lys600=) c.1405A= (p.Lys469=) c.1867A= (p.Lys623=) c.1801A= (p.Lys601=) c.1759A= (p.Lys587=) c.832A= (p.Lys278=) | |
20 | g.63408485G>A | CA511203568 | KCNQ2 | c.1869C>T (p.Thr623=) c.1815C>T (p.Thr605=) c.141C>T c.1212C>T (p.Thr404=) c.1722C>T (p.Thr574=) c.1383C>T (p.Thr461=) c.1731C>T (p.Thr577=) c.1839C>T (p.Thr613=) c.1803C>T (p.Thr601=) c.1761C>T (p.Thr587=) c.1679+4965C>T (n.1679+4965C>T) c.1857C>T (p.Thr619=) c.1923C>T (p.Thr641=) c.1920C>T (p.Thr640=) c.1893C>T (p.Thr631=) c.1812C>T (p.Thr604=) c.1797C>T (p.Thr599=) c.1404C>T (p.Thr468=) c.1866C>T (p.Thr622=) c.1800C>T (p.Thr600=) c.1758C>T (p.Thr586=) c.831C>T (p.Thr277=) | gnomAD v4 |
20 | g.63408485G>C | CA511203569 | KCNQ2 | c.1869C>G (p.Thr623=) c.1815C>G (p.Thr605=) c.141C>G c.1212C>G (p.Thr404=) c.1722C>G (p.Thr574=) c.1383C>G (p.Thr461=) c.1731C>G (p.Thr577=) c.1839C>G (p.Thr613=) c.1803C>G (p.Thr601=) c.1761C>G (p.Thr587=) c.1679+4965C>G (n.1679+4965C>G) c.1857C>G (p.Thr619=) c.1923C>G (p.Thr641=) c.1920C>G (p.Thr640=) c.1893C>G (p.Thr631=) c.1812C>G (p.Thr604=) c.1797C>G (p.Thr599=) c.1404C>G (p.Thr468=) c.1866C>G (p.Thr622=) c.1800C>G (p.Thr600=) c.1758C>G (p.Thr586=) c.831C>G (p.Thr277=) | ClinVar |
20 | g.63408485G>T | CA511203570 | KCNQ2 | c.1869C>A (p.Thr623=) c.1815C>A (p.Thr605=) c.141C>A c.1212C>A (p.Thr404=) c.1722C>A (p.Thr574=) c.1383C>A (p.Thr461=) c.1731C>A (p.Thr577=) c.1839C>A (p.Thr613=) c.1803C>A (p.Thr601=) c.1761C>A (p.Thr587=) c.1679+4965C>A (n.1679+4965C>A) c.1857C>A (p.Thr619=) c.1923C>A (p.Thr641=) c.1920C>A (p.Thr640=) c.1893C>A (p.Thr631=) c.1812C>A (p.Thr604=) c.1797C>A (p.Thr599=) c.1404C>A (p.Thr468=) c.1866C>A (p.Thr622=) c.1800C>A (p.Thr600=) c.1758C>A (p.Thr586=) c.831C>A (p.Thr277=) | gnomAD v4 |
20 | g.63408486G>A | CA9958239 | KCNQ2 | c.1868C>T (p.Thr623Ile) c.1814C>T (p.Thr605Ile) c.140C>T c.1211C>T (p.Thr404Ile) c.1721C>T (p.Thr574Ile) c.1382C>T (p.Thr461Ile) c.1730C>T (p.Thr577Ile) c.1838C>T (p.Thr613Ile) c.1802C>T (p.Thr601Ile) c.1760C>T (p.Thr587Ile) c.1679+4964C>T (n.1679+4964C>T) c.1856C>T (p.Thr619Ile) c.1922C>T (p.Thr641Ile) c.1919C>T (p.Thr640Ile) c.1892C>T (p.Thr631Ile) c.1811C>T (p.Thr604Ile) c.1796C>T (p.Thr599Ile) c.1403C>T (p.Thr468Ile) c.1865C>T (p.Thr622Ile) c.1799C>T (p.Thr600Ile) c.1757C>T (p.Thr586Ile) c.830C>T (p.Thr277Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63408486G>C | CA315504 | KCNQ2 | c.1868C>G (p.Thr623Ser) c.1814C>G (p.Thr605Ser) c.140C>G c.1211C>G (p.Thr404Ser) c.1721C>G (p.Thr574Ser) c.1382C>G (p.Thr461Ser) c.1730C>G (p.Thr577Ser) c.1838C>G (p.Thr613Ser) c.1802C>G (p.Thr601Ser) c.1760C>G (p.Thr587Ser) c.1679+4964C>G (n.1679+4964C>G) c.1856C>G (p.Thr619Ser) c.1922C>G (p.Thr641Ser) c.1919C>G (p.Thr640Ser) c.1892C>G (p.Thr631Ser) c.1811C>G (p.Thr604Ser) c.1796C>G (p.Thr599Ser) c.1403C>G (p.Thr468Ser) c.1865C>G (p.Thr622Ser) c.1799C>G (p.Thr600Ser) c.1757C>G (p.Thr586Ser) c.830C>G (p.Thr277Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63408486G= | CA2374775226 | KCNQ2 | c.1868C= (p.Thr623=) c.1814C= (p.Thr605=) c.140C= c.1211C= (p.Thr404=) c.1721C= (p.Thr574=) c.1382C= (p.Thr461=) c.1730C= (p.Thr577=) c.1838C= (p.Thr613=) c.1802C= (p.Thr601=) c.1760C= (p.Thr587=) c.1679+4964C= (n.1679+4964C=) c.1856C= (p.Thr619=) c.1922C= (p.Thr641=) c.1919C= (p.Thr640=) c.1892C= (p.Thr631=) c.1811C= (p.Thr604=) c.1796C= (p.Thr599=) c.1403C= (p.Thr468=) c.1865C= (p.Thr622=) c.1799C= (p.Thr600=) c.1757C= (p.Thr586=) c.830C= (p.Thr277=) | |
20 | g.63408486G>T | CA409640350 | KCNQ2 | c.1868C>A (p.Thr623Asn) c.1814C>A (p.Thr605Asn) c.140C>A c.1211C>A (p.Thr404Asn) c.1721C>A (p.Thr574Asn) c.1382C>A (p.Thr461Asn) c.1730C>A (p.Thr577Asn) c.1838C>A (p.Thr613Asn) c.1802C>A (p.Thr601Asn) c.1760C>A (p.Thr587Asn) c.1679+4964C>A (n.1679+4964C>A) c.1856C>A (p.Thr619Asn) c.1922C>A (p.Thr641Asn) c.1919C>A (p.Thr640Asn) c.1892C>A (p.Thr631Asn) c.1811C>A (p.Thr604Asn) c.1796C>A (p.Thr599Asn) c.1403C>A (p.Thr468Asn) c.1865C>A (p.Thr622Asn) c.1799C>A (p.Thr600Asn) c.1757C>A (p.Thr586Asn) c.830C>A (p.Thr277Asn) | |
20 | g.63408487T>A | CA409640351 | KCNQ2 | c.1867A>T (p.Thr623Ser) c.1813A>T (p.Thr605Ser) c.139A>T c.1210A>T (p.Thr404Ser) c.1720A>T (p.Thr574Ser) c.1381A>T (p.Thr461Ser) c.1729A>T (p.Thr577Ser) c.1837A>T (p.Thr613Ser) c.1801A>T (p.Thr601Ser) c.1759A>T (p.Thr587Ser) c.1679+4963A>T (n.1679+4963A>T) c.1855A>T (p.Thr619Ser) c.1921A>T (p.Thr641Ser) c.1918A>T (p.Thr640Ser) c.1891A>T (p.Thr631Ser) c.1810A>T (p.Thr604Ser) c.1795A>T (p.Thr599Ser) c.1402A>T (p.Thr468Ser) c.1864A>T (p.Thr622Ser) c.1798A>T (p.Thr600Ser) c.1756A>T (p.Thr586Ser) c.829A>T (p.Thr277Ser) | |
20 | g.63408487T>C | CA409640352 | KCNQ2 | c.1867A>G (p.Thr623Ala) c.1813A>G (p.Thr605Ala) c.139A>G c.1210A>G (p.Thr404Ala) c.1720A>G (p.Thr574Ala) c.1381A>G (p.Thr461Ala) c.1729A>G (p.Thr577Ala) c.1837A>G (p.Thr613Ala) c.1801A>G (p.Thr601Ala) c.1759A>G (p.Thr587Ala) c.1679+4963A>G (n.1679+4963A>G) c.1855A>G (p.Thr619Ala) c.1921A>G (p.Thr641Ala) c.1918A>G (p.Thr640Ala) c.1891A>G (p.Thr631Ala) c.1810A>G (p.Thr604Ala) c.1795A>G (p.Thr599Ala) c.1402A>G (p.Thr468Ala) c.1864A>G (p.Thr622Ala) c.1798A>G (p.Thr600Ala) c.1756A>G (p.Thr586Ala) c.829A>G (p.Thr277Ala) | |
20 | g.63408487T>G | CA409640353 | KCNQ2 | c.1867A>C (p.Thr623Pro) c.1813A>C (p.Thr605Pro) c.139A>C c.1210A>C (p.Thr404Pro) c.1720A>C (p.Thr574Pro) c.1381A>C (p.Thr461Pro) c.1729A>C (p.Thr577Pro) c.1837A>C (p.Thr613Pro) c.1801A>C (p.Thr601Pro) c.1759A>C (p.Thr587Pro) c.1679+4963A>C (n.1679+4963A>C) c.1855A>C (p.Thr619Pro) c.1921A>C (p.Thr641Pro) c.1918A>C (p.Thr640Pro) c.1891A>C (p.Thr631Pro) c.1810A>C (p.Thr604Pro) c.1795A>C (p.Thr599Pro) c.1402A>C (p.Thr468Pro) c.1864A>C (p.Thr622Pro) c.1798A>C (p.Thr600Pro) c.1756A>C (p.Thr586Pro) c.829A>C (p.Thr277Pro) | |
20 | g.63408488G>A | CA511203571 | KCNQ2 | c.1866C>T (p.Arg622=) c.1812C>T (p.Arg604=) c.138C>T c.1209C>T (p.Arg403=) c.1719C>T (p.Arg573=) c.1380C>T (p.Arg460=) c.1728C>T (p.Arg576=) c.1836C>T (p.Arg612=) c.1800C>T (p.Arg600=) c.1758C>T (p.Arg586=) c.1679+4962C>T (n.1679+4962C>T) c.1854C>T (p.Arg618=) c.1920C>T (p.Arg640=) c.1917C>T (p.Arg639=) c.1890C>T (p.Arg630=) c.1809C>T (p.Arg603=) c.1794C>T (p.Arg598=) c.1401C>T (p.Arg467=) c.1863C>T (p.Arg621=) c.1797C>T (p.Arg599=) c.1755C>T (p.Arg585=) c.828C>T (p.Arg276=) | ClinVar dbSNP gnomAD v4 |
20 | g.63408488G>C | CA511203572 | KCNQ2 | c.1866C>G (p.Arg622=) c.1812C>G (p.Arg604=) c.138C>G c.1209C>G (p.Arg403=) c.1719C>G (p.Arg573=) c.1380C>G (p.Arg460=) c.1728C>G (p.Arg576=) c.1836C>G (p.Arg612=) c.1800C>G (p.Arg600=) c.1758C>G (p.Arg586=) c.1679+4962C>G (n.1679+4962C>G) c.1854C>G (p.Arg618=) c.1920C>G (p.Arg640=) c.1917C>G (p.Arg639=) c.1890C>G (p.Arg630=) c.1809C>G (p.Arg603=) c.1794C>G (p.Arg598=) c.1401C>G (p.Arg467=) c.1863C>G (p.Arg621=) c.1797C>G (p.Arg599=) c.1755C>G (p.Arg585=) c.828C>G (p.Arg276=) | |
20 | g.63408488G>T | CA511203573 | KCNQ2 | c.1866C>A (p.Arg622=) c.1812C>A (p.Arg604=) c.138C>A c.1209C>A (p.Arg403=) c.1719C>A (p.Arg573=) c.1380C>A (p.Arg460=) c.1728C>A (p.Arg576=) c.1836C>A (p.Arg612=) c.1800C>A (p.Arg600=) c.1758C>A (p.Arg586=) c.1679+4962C>A (n.1679+4962C>A) c.1854C>A (p.Arg618=) c.1920C>A (p.Arg640=) c.1917C>A (p.Arg639=) c.1890C>A (p.Arg630=) c.1809C>A (p.Arg603=) c.1794C>A (p.Arg598=) c.1401C>A (p.Arg467=) c.1863C>A (p.Arg621=) c.1797C>A (p.Arg599=) c.1755C>A (p.Arg585=) c.828C>A (p.Arg276=) | |
20 | g.63408489C>A | CA409640354 | KCNQ2 | c.1865G>T (p.Arg622Leu) c.1811G>T (p.Arg604Leu) c.137G>T c.1208G>T (p.Arg403Leu) c.1718G>T (p.Arg573Leu) c.1379G>T (p.Arg460Leu) c.1727G>T (p.Arg576Leu) c.1835G>T (p.Arg612Leu) c.1799G>T (p.Arg600Leu) c.1757G>T (p.Arg586Leu) c.1679+4961G>T (n.1679+4961G>T) c.1853G>T (p.Arg618Leu) c.1919G>T (p.Arg640Leu) c.1916G>T (p.Arg639Leu) c.1889G>T (p.Arg630Leu) c.1808G>T (p.Arg603Leu) c.1793G>T (p.Arg598Leu) c.1400G>T (p.Arg467Leu) c.1862G>T (p.Arg621Leu) c.1796G>T (p.Arg599Leu) c.1754G>T (p.Arg585Leu) c.827G>T (p.Arg276Leu) | dbSNP COSMIC |
20 | g.63408489C= | CA2374775227 | KCNQ2 | c.1865G= (p.Arg622=) c.1811G= (p.Arg604=) c.137G= c.1208G= (p.Arg403=) c.1718G= (p.Arg573=) c.1379G= (p.Arg460=) c.1727G= (p.Arg576=) c.1835G= (p.Arg612=) c.1799G= (p.Arg600=) c.1757G= (p.Arg586=) c.1679+4961G= (n.1679+4961G=) c.1853G= (p.Arg618=) c.1919G= (p.Arg640=) c.1916G= (p.Arg639=) c.1889G= (p.Arg630=) c.1808G= (p.Arg603=) c.1793G= (p.Arg598=) c.1400G= (p.Arg467=) c.1862G= (p.Arg621=) c.1796G= (p.Arg599=) c.1754G= (p.Arg585=) c.827G= (p.Arg276=) | |
20 | g.63408489C>G | CA409640356 | KCNQ2 | c.1865G>C (p.Arg622Pro) c.1811G>C (p.Arg604Pro) c.137G>C c.1208G>C (p.Arg403Pro) c.1718G>C (p.Arg573Pro) c.1379G>C (p.Arg460Pro) c.1727G>C (p.Arg576Pro) c.1835G>C (p.Arg612Pro) c.1799G>C (p.Arg600Pro) c.1757G>C (p.Arg586Pro) c.1679+4961G>C (n.1679+4961G>C) c.1853G>C (p.Arg618Pro) c.1919G>C (p.Arg640Pro) c.1916G>C (p.Arg639Pro) c.1889G>C (p.Arg630Pro) c.1808G>C (p.Arg603Pro) c.1793G>C (p.Arg598Pro) c.1400G>C (p.Arg467Pro) c.1862G>C (p.Arg621Pro) c.1796G>C (p.Arg599Pro) c.1754G>C (p.Arg585Pro) c.827G>C (p.Arg276Pro) | |
20 | g.63408489C>T | CA409640355 | KCNQ2 | c.1865G>A (p.Arg622His) c.1811G>A (p.Arg604His) c.137G>A c.1208G>A (p.Arg403His) c.1718G>A (p.Arg573His) c.1379G>A (p.Arg460His) c.1727G>A (p.Arg576His) c.1835G>A (p.Arg612His) c.1799G>A (p.Arg600His) c.1757G>A (p.Arg586His) c.1679+4961G>A (n.1679+4961G>A) c.1853G>A (p.Arg618His) c.1919G>A (p.Arg640His) c.1916G>A (p.Arg639His) c.1889G>A (p.Arg630His) c.1808G>A (p.Arg603His) c.1793G>A (p.Arg598His) c.1400G>A (p.Arg467His) c.1862G>A (p.Arg621His) c.1796G>A (p.Arg599His) c.1754G>A (p.Arg585His) c.827G>A (p.Arg276His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63408490G>A | CA315501 | KCNQ2 | c.1864C>T (p.Arg622Cys) c.1810C>T (p.Arg604Cys) c.136C>T c.1207C>T (p.Arg403Cys) c.1717C>T (p.Arg573Cys) c.1378C>T (p.Arg460Cys) c.1726C>T (p.Arg576Cys) c.1834C>T (p.Arg612Cys) c.1798C>T (p.Arg600Cys) c.1756C>T (p.Arg586Cys) c.1679+4960C>T (n.1679+4960C>T) c.1852C>T (p.Arg618Cys) c.1918C>T (p.Arg640Cys) c.1915C>T (p.Arg639Cys) c.1888C>T (p.Arg630Cys) c.1807C>T (p.Arg603Cys) c.1792C>T (p.Arg598Cys) c.1399C>T (p.Arg467Cys) c.1861C>T (p.Arg621Cys) c.1795C>T (p.Arg599Cys) c.1753C>T (p.Arg585Cys) c.826C>T (p.Arg276Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63408490G>C | CA409640357 | KCNQ2 | c.1864C>G (p.Arg622Gly) c.1810C>G (p.Arg604Gly) c.136C>G c.1207C>G (p.Arg403Gly) c.1717C>G (p.Arg573Gly) c.1378C>G (p.Arg460Gly) c.1726C>G (p.Arg576Gly) c.1834C>G (p.Arg612Gly) c.1798C>G (p.Arg600Gly) c.1756C>G (p.Arg586Gly) c.1679+4960C>G (n.1679+4960C>G) c.1852C>G (p.Arg618Gly) c.1918C>G (p.Arg640Gly) c.1915C>G (p.Arg639Gly) c.1888C>G (p.Arg630Gly) c.1807C>G (p.Arg603Gly) c.1792C>G (p.Arg598Gly) c.1399C>G (p.Arg467Gly) c.1861C>G (p.Arg621Gly) c.1795C>G (p.Arg599Gly) c.1753C>G (p.Arg585Gly) c.826C>G (p.Arg276Gly) | |
20 | g.63408490G= | CA2374775228 | KCNQ2 | c.1864C= (p.Arg622=) c.1810C= (p.Arg604=) c.136C= c.1207C= (p.Arg403=) c.1717C= (p.Arg573=) c.1378C= (p.Arg460=) c.1726C= (p.Arg576=) c.1834C= (p.Arg612=) c.1798C= (p.Arg600=) c.1756C= (p.Arg586=) c.1679+4960C= (n.1679+4960C=) c.1852C= (p.Arg618=) c.1918C= (p.Arg640=) c.1915C= (p.Arg639=) c.1888C= (p.Arg630=) c.1807C= (p.Arg603=) c.1792C= (p.Arg598=) c.1399C= (p.Arg467=) c.1861C= (p.Arg621=) c.1795C= (p.Arg599=) c.1753C= (p.Arg585=) c.826C= (p.Arg276=) | |
20 | g.63408490G>T | CA9958240 | KCNQ2 | c.1864C>A (p.Arg622Ser) c.1810C>A (p.Arg604Ser) c.136C>A c.1207C>A (p.Arg403Ser) c.1717C>A (p.Arg573Ser) c.1378C>A (p.Arg460Ser) c.1726C>A (p.Arg576Ser) c.1834C>A (p.Arg612Ser) c.1798C>A (p.Arg600Ser) c.1756C>A (p.Arg586Ser) c.1679+4960C>A (n.1679+4960C>A) c.1852C>A (p.Arg618Ser) c.1918C>A (p.Arg640Ser) c.1915C>A (p.Arg639Ser) c.1888C>A (p.Arg630Ser) c.1807C>A (p.Arg603Ser) c.1792C>A (p.Arg598Ser) c.1399C>A (p.Arg467Ser) c.1861C>A (p.Arg621Ser) c.1795C>A (p.Arg599Ser) c.1753C>A (p.Arg585Ser) c.826C>A (p.Arg276Ser) | dbSNP ExAC gnomAD v2 |
20 | g.63408491del | CA2653808416 | KCNQ2 | c.1864del (p.Arg622AlafsTer16) c.1810del (p.Arg604AlafsTer16) c.136del c.1207del (p.Arg403AlafsTer16) c.1717del (p.Arg573AlafsTer16) c.1378del (p.Arg460AlafsTer16) c.1726del (p.Arg576AlafsTer16) c.1834del (p.Arg612AlafsTer16) c.1798del (p.Arg600AlafsTer16) c.1756del (p.Arg586AlafsTer16) c.1679+4960del (n.1679+4960del) c.1852del (p.Arg618AlafsTer16) c.1918del (p.Arg640AlafsTer16) c.1915del (p.Arg639AlafsTer16) c.1888del (p.Arg630AlafsTer16) c.1807del (p.Arg603AlafsTer16) c.1792del (p.Arg598AlafsTer16) c.1399del (p.Arg467AlafsTer16) c.1861del (p.Arg621AlafsTer16) c.1795del (p.Arg599AlafsTer16) c.1753del (p.Arg585AlafsTer16) c.826del (p.Arg276AlafsTer16) | gnomAD v4 |
20 | g.63408491G>A | CA511203574 | KCNQ2 | c.1863C>T (p.Asp621=) c.1809C>T (p.Asp603=) c.135C>T c.1206C>T (p.Asp402=) c.1716C>T (p.Asp572=) c.1377C>T (p.Asp459=) c.1725C>T (p.Asp575=) c.1833C>T (p.Asp611=) c.1797C>T (p.Asp599=) c.1755C>T (p.Asp585=) c.1679+4959C>T (n.1679+4959C>T) c.1851C>T (p.Asp617=) c.1917C>T (p.Asp639=) c.1914C>T (p.Asp638=) c.1887C>T (p.Asp629=) c.1806C>T (p.Asp602=) c.1791C>T (p.Asp597=) c.1398C>T (p.Asp466=) c.1860C>T (p.Asp620=) c.1794C>T (p.Asp598=) c.1752C>T (p.Asp584=) c.825C>T (p.Asp275=) | |
20 | g.63408491G>C | CA409640358 | KCNQ2 | c.1863C>G (p.Asp621Glu) c.1809C>G (p.Asp603Glu) c.135C>G c.1206C>G (p.Asp402Glu) c.1716C>G (p.Asp572Glu) c.1377C>G (p.Asp459Glu) c.1725C>G (p.Asp575Glu) c.1833C>G (p.Asp611Glu) c.1797C>G (p.Asp599Glu) c.1755C>G (p.Asp585Glu) c.1679+4959C>G (n.1679+4959C>G) c.1851C>G (p.Asp617Glu) c.1917C>G (p.Asp639Glu) c.1914C>G (p.Asp638Glu) c.1887C>G (p.Asp629Glu) c.1806C>G (p.Asp602Glu) c.1791C>G (p.Asp597Glu) c.1398C>G (p.Asp466Glu) c.1860C>G (p.Asp620Glu) c.1794C>G (p.Asp598Glu) c.1752C>G (p.Asp584Glu) c.825C>G (p.Asp275Glu) | |
20 | g.63408491G>T | CA409640359 | KCNQ2 | c.1863C>A (p.Asp621Glu) c.1809C>A (p.Asp603Glu) c.135C>A c.1206C>A (p.Asp402Glu) c.1716C>A (p.Asp572Glu) c.1377C>A (p.Asp459Glu) c.1725C>A (p.Asp575Glu) c.1833C>A (p.Asp611Glu) c.1797C>A (p.Asp599Glu) c.1755C>A (p.Asp585Glu) c.1679+4959C>A (n.1679+4959C>A) c.1851C>A (p.Asp617Glu) c.1917C>A (p.Asp639Glu) c.1914C>A (p.Asp638Glu) c.1887C>A (p.Asp629Glu) c.1806C>A (p.Asp602Glu) c.1791C>A (p.Asp597Glu) c.1398C>A (p.Asp466Glu) c.1860C>A (p.Asp620Glu) c.1794C>A (p.Asp598Glu) c.1752C>A (p.Asp584Glu) c.825C>A (p.Asp275Glu) | gnomAD v4 |
20 | g.63408492T>A | CA409640360 | KCNQ2 | c.1862A>T (p.Asp621Val) c.1808A>T (p.Asp603Val) c.134A>T c.1205A>T (p.Asp402Val) c.1715A>T (p.Asp572Val) c.1376A>T (p.Asp459Val) c.1724A>T (p.Asp575Val) c.1832A>T (p.Asp611Val) c.1796A>T (p.Asp599Val) c.1754A>T (p.Asp585Val) c.1679+4958A>T (n.1679+4958A>T) c.1850A>T (p.Asp617Val) c.1916A>T (p.Asp639Val) c.1913A>T (p.Asp638Val) c.1886A>T (p.Asp629Val) c.1805A>T (p.Asp602Val) c.1790A>T (p.Asp597Val) c.1397A>T (p.Asp466Val) c.1859A>T (p.Asp620Val) c.1793A>T (p.Asp598Val) c.1751A>T (p.Asp584Val) c.824A>T (p.Asp275Val) | |
20 | g.63408492T>C | CA409640361 | KCNQ2 | c.1862A>G (p.Asp621Gly) c.1808A>G (p.Asp603Gly) c.134A>G c.1205A>G (p.Asp402Gly) c.1715A>G (p.Asp572Gly) c.1376A>G (p.Asp459Gly) c.1724A>G (p.Asp575Gly) c.1832A>G (p.Asp611Gly) c.1796A>G (p.Asp599Gly) c.1754A>G (p.Asp585Gly) c.1679+4958A>G (n.1679+4958A>G) c.1850A>G (p.Asp617Gly) c.1916A>G (p.Asp639Gly) c.1913A>G (p.Asp638Gly) c.1886A>G (p.Asp629Gly) c.1805A>G (p.Asp602Gly) c.1790A>G (p.Asp597Gly) c.1397A>G (p.Asp466Gly) c.1859A>G (p.Asp620Gly) c.1793A>G (p.Asp598Gly) c.1751A>G (p.Asp584Gly) c.824A>G (p.Asp275Gly) | COSMIC COSMIC COSMIC |
20 | g.63408492T>G | CA409640362 | KCNQ2 | c.1862A>C (p.Asp621Ala) c.1808A>C (p.Asp603Ala) c.134A>C c.1205A>C (p.Asp402Ala) c.1715A>C (p.Asp572Ala) c.1376A>C (p.Asp459Ala) c.1724A>C (p.Asp575Ala) c.1832A>C (p.Asp611Ala) c.1796A>C (p.Asp599Ala) c.1754A>C (p.Asp585Ala) c.1679+4958A>C (n.1679+4958A>C) c.1850A>C (p.Asp617Ala) c.1916A>C (p.Asp639Ala) c.1913A>C (p.Asp638Ala) c.1886A>C (p.Asp629Ala) c.1805A>C (p.Asp602Ala) c.1790A>C (p.Asp597Ala) c.1397A>C (p.Asp466Ala) c.1859A>C (p.Asp620Ala) c.1793A>C (p.Asp598Ala) c.1751A>C (p.Asp584Ala) c.824A>C (p.Asp275Ala) | |
20 | g.63408493C>A | CA409640363 | KCNQ2 | c.1861G>T (p.Asp621Tyr) c.1807G>T (p.Asp603Tyr) c.133G>T c.1204G>T (p.Asp402Tyr) c.1714G>T (p.Asp572Tyr) c.1375G>T (p.Asp459Tyr) c.1723G>T (p.Asp575Tyr) c.1831G>T (p.Asp611Tyr) c.1795G>T (p.Asp599Tyr) c.1753G>T (p.Asp585Tyr) c.1679+4957G>T (n.1679+4957G>T) c.1849G>T (p.Asp617Tyr) c.1915G>T (p.Asp639Tyr) c.1912G>T (p.Asp638Tyr) c.1885G>T (p.Asp629Tyr) c.1804G>T (p.Asp602Tyr) c.1789G>T (p.Asp597Tyr) c.1396G>T (p.Asp466Tyr) c.1858G>T (p.Asp620Tyr) c.1792G>T (p.Asp598Tyr) c.1750G>T (p.Asp584Tyr) c.823G>T (p.Asp275Tyr) | |
20 | g.63408493C>G | CA409640364 | KCNQ2 | c.1861G>C (p.Asp621His) c.1807G>C (p.Asp603His) c.133G>C c.1204G>C (p.Asp402His) c.1714G>C (p.Asp572His) c.1375G>C (p.Asp459His) c.1723G>C (p.Asp575His) c.1831G>C (p.Asp611His) c.1795G>C (p.Asp599His) c.1753G>C (p.Asp585His) c.1679+4957G>C (n.1679+4957G>C) c.1849G>C (p.Asp617His) c.1915G>C (p.Asp639His) c.1912G>C (p.Asp638His) c.1885G>C (p.Asp629His) c.1804G>C (p.Asp602His) c.1789G>C (p.Asp597His) c.1396G>C (p.Asp466His) c.1858G>C (p.Asp620His) c.1792G>C (p.Asp598His) c.1750G>C (p.Asp584His) c.823G>C (p.Asp275His) | |
20 | g.63408493C>T | CA409640365 | KCNQ2 | c.1861G>A (p.Asp621Asn) c.1807G>A (p.Asp603Asn) c.133G>A c.1204G>A (p.Asp402Asn) c.1714G>A (p.Asp572Asn) c.1375G>A (p.Asp459Asn) c.1723G>A (p.Asp575Asn) c.1831G>A (p.Asp611Asn) c.1795G>A (p.Asp599Asn) c.1753G>A (p.Asp585Asn) c.1679+4957G>A (n.1679+4957G>A) c.1849G>A (p.Asp617Asn) c.1915G>A (p.Asp639Asn) c.1912G>A (p.Asp638Asn) c.1885G>A (p.Asp629Asn) c.1804G>A (p.Asp602Asn) c.1789G>A (p.Asp597Asn) c.1396G>A (p.Asp466Asn) c.1858G>A (p.Asp620Asn) c.1792G>A (p.Asp598Asn) c.1750G>A (p.Asp584Asn) c.823G>A (p.Asp275Asn) | |
20 | g.63408494C>A | CA409640366 | KCNQ2 | c.1860G>T (p.Lys620Asn) c.1806G>T (p.Lys602Asn) c.132G>T c.1203G>T (p.Lys401Asn) c.1713G>T (p.Lys571Asn) c.1374G>T (p.Lys458Asn) c.1722G>T (p.Lys574Asn) c.1830G>T (p.Lys610Asn) c.1794G>T (p.Lys598Asn) c.1752G>T (p.Lys584Asn) c.1679+4956G>T (n.1679+4956G>T) c.1848G>T (p.Lys616Asn) c.1914G>T (p.Lys638Asn) c.1911G>T (p.Lys637Asn) c.1884G>T (p.Lys628Asn) c.1803G>T (p.Lys601Asn) c.1788G>T (p.Lys596Asn) c.1395G>T (p.Lys465Asn) c.1857G>T (p.Lys619Asn) c.1791G>T (p.Lys597Asn) c.1749G>T (p.Lys583Asn) c.822G>T (p.Lys274Asn) | gnomAD v4 |
20 | g.63408494C>G | CA409640367 | KCNQ2 | c.1860G>C (p.Lys620Asn) c.1806G>C (p.Lys602Asn) c.132G>C c.1203G>C (p.Lys401Asn) c.1713G>C (p.Lys571Asn) c.1374G>C (p.Lys458Asn) c.1722G>C (p.Lys574Asn) c.1830G>C (p.Lys610Asn) c.1794G>C (p.Lys598Asn) c.1752G>C (p.Lys584Asn) c.1679+4956G>C (n.1679+4956G>C) c.1848G>C (p.Lys616Asn) c.1914G>C (p.Lys638Asn) c.1911G>C (p.Lys637Asn) c.1884G>C (p.Lys628Asn) c.1803G>C (p.Lys601Asn) c.1788G>C (p.Lys596Asn) c.1395G>C (p.Lys465Asn) c.1857G>C (p.Lys619Asn) c.1791G>C (p.Lys597Asn) c.1749G>C (p.Lys583Asn) c.822G>C (p.Lys274Asn) | |
20 | g.63408494C>T | CA511203575 | KCNQ2 | c.1860G>A (p.Lys620=) c.1806G>A (p.Lys602=) c.132G>A c.1203G>A (p.Lys401=) c.1713G>A (p.Lys571=) c.1374G>A (p.Lys458=) c.1722G>A (p.Lys574=) c.1830G>A (p.Lys610=) c.1794G>A (p.Lys598=) c.1752G>A (p.Lys584=) c.1679+4956G>A (n.1679+4956G>A) c.1848G>A (p.Lys616=) c.1914G>A (p.Lys638=) c.1911G>A (p.Lys637=) c.1884G>A (p.Lys628=) c.1803G>A (p.Lys601=) c.1788G>A (p.Lys596=) c.1395G>A (p.Lys465=) c.1857G>A (p.Lys619=) c.1791G>A (p.Lys597=) c.1749G>A (p.Lys583=) c.822G>A (p.Lys274=) | ClinVar dbSNP |
20 | g.63408495T>A | CA409640368 | KCNQ2 | c.1859A>T (p.Lys620Met) c.1805A>T (p.Lys602Met) c.131A>T c.1202A>T (p.Lys401Met) c.1712A>T (p.Lys571Met) c.1373A>T (p.Lys458Met) c.1721A>T (p.Lys574Met) c.1829A>T (p.Lys610Met) c.1793A>T (p.Lys598Met) c.1751A>T (p.Lys584Met) c.1679+4955A>T (n.1679+4955A>T) c.1847A>T (p.Lys616Met) c.1913A>T (p.Lys638Met) c.1910A>T (p.Lys637Met) c.1883A>T (p.Lys628Met) c.1802A>T (p.Lys601Met) c.1787A>T (p.Lys596Met) c.1394A>T (p.Lys465Met) c.1856A>T (p.Lys619Met) c.1790A>T (p.Lys597Met) c.1748A>T (p.Lys583Met) c.821A>T (p.Lys274Met) | |
20 | g.63408495T>C | CA409640370 | KCNQ2 | c.1859A>G (p.Lys620Arg) c.1805A>G (p.Lys602Arg) c.131A>G c.1202A>G (p.Lys401Arg) c.1712A>G (p.Lys571Arg) c.1373A>G (p.Lys458Arg) c.1721A>G (p.Lys574Arg) c.1829A>G (p.Lys610Arg) c.1793A>G (p.Lys598Arg) c.1751A>G (p.Lys584Arg) c.1679+4955A>G (n.1679+4955A>G) c.1847A>G (p.Lys616Arg) c.1913A>G (p.Lys638Arg) c.1910A>G (p.Lys637Arg) c.1883A>G (p.Lys628Arg) c.1802A>G (p.Lys601Arg) c.1787A>G (p.Lys596Arg) c.1394A>G (p.Lys465Arg) c.1856A>G (p.Lys619Arg) c.1790A>G (p.Lys597Arg) c.1748A>G (p.Lys583Arg) c.821A>G (p.Lys274Arg) | gnomAD v4 |
20 | g.63408495T>G | CA409640369 | KCNQ2 | c.1859A>C (p.Lys620Thr) c.1805A>C (p.Lys602Thr) c.131A>C c.1202A>C (p.Lys401Thr) c.1712A>C (p.Lys571Thr) c.1373A>C (p.Lys458Thr) c.1721A>C (p.Lys574Thr) c.1829A>C (p.Lys610Thr) c.1793A>C (p.Lys598Thr) c.1751A>C (p.Lys584Thr) c.1679+4955A>C (n.1679+4955A>C) c.1847A>C (p.Lys616Thr) c.1913A>C (p.Lys638Thr) c.1910A>C (p.Lys637Thr) c.1883A>C (p.Lys628Thr) c.1802A>C (p.Lys601Thr) c.1787A>C (p.Lys596Thr) c.1394A>C (p.Lys465Thr) c.1856A>C (p.Lys619Thr) c.1790A>C (p.Lys597Thr) c.1748A>C (p.Lys583Thr) c.821A>C (p.Lys274Thr) | |
20 | g.63408496T>A | CA409640371 | KCNQ2 | c.1858A>T (p.Lys620Ter) c.1804A>T (p.Lys602Ter) c.130A>T c.1201A>T (p.Lys401Ter) c.1711A>T (p.Lys571Ter) c.1372A>T (p.Lys458Ter) c.1720A>T (p.Lys574Ter) c.1828A>T (p.Lys610Ter) c.1792A>T (p.Lys598Ter) c.1750A>T (p.Lys584Ter) c.1679+4954A>T (n.1679+4954A>T) c.1846A>T (p.Lys616Ter) c.1912A>T (p.Lys638Ter) c.1909A>T (p.Lys637Ter) c.1882A>T (p.Lys628Ter) c.1801A>T (p.Lys601Ter) c.1786A>T (p.Lys596Ter) c.1393A>T (p.Lys465Ter) c.1855A>T (p.Lys619Ter) c.1789A>T (p.Lys597Ter) c.1747A>T (p.Lys583Ter) c.820A>T (p.Lys274Ter) | |
20 | g.63408496T>C | CA409640372 | KCNQ2 | c.1858A>G (p.Lys620Glu) c.1804A>G (p.Lys602Glu) c.130A>G c.1201A>G (p.Lys401Glu) c.1711A>G (p.Lys571Glu) c.1372A>G (p.Lys458Glu) c.1720A>G (p.Lys574Glu) c.1828A>G (p.Lys610Glu) c.1792A>G (p.Lys598Glu) c.1750A>G (p.Lys584Glu) c.1679+4954A>G (n.1679+4954A>G) c.1846A>G (p.Lys616Glu) c.1912A>G (p.Lys638Glu) c.1909A>G (p.Lys637Glu) c.1882A>G (p.Lys628Glu) c.1801A>G (p.Lys601Glu) c.1786A>G (p.Lys596Glu) c.1393A>G (p.Lys465Glu) c.1855A>G (p.Lys619Glu) c.1789A>G (p.Lys597Glu) c.1747A>G (p.Lys583Glu) c.820A>G (p.Lys274Glu) | |
20 | g.63408496T>G | CA409640374 | KCNQ2 | c.1858A>C (p.Lys620Gln) c.1804A>C (p.Lys602Gln) c.130A>C c.1201A>C (p.Lys401Gln) c.1711A>C (p.Lys571Gln) c.1372A>C (p.Lys458Gln) c.1720A>C (p.Lys574Gln) c.1828A>C (p.Lys610Gln) c.1792A>C (p.Lys598Gln) c.1750A>C (p.Lys584Gln) c.1679+4954A>C (n.1679+4954A>C) c.1846A>C (p.Lys616Gln) c.1912A>C (p.Lys638Gln) c.1909A>C (p.Lys637Gln) c.1882A>C (p.Lys628Gln) c.1801A>C (p.Lys601Gln) c.1786A>C (p.Lys596Gln) c.1393A>C (p.Lys465Gln) c.1855A>C (p.Lys619Gln) c.1789A>C (p.Lys597Gln) c.1747A>C (p.Lys583Gln) c.820A>C (p.Lys274Gln) | |
20 | g.63408497G>A | CA511203576 | KCNQ2 | c.1857C>T (p.Asp619=) c.1803C>T (p.Asp601=) c.129C>T c.1200C>T (p.Asp400=) c.1710C>T (p.Asp570=) c.1371C>T (p.Asp457=) c.1719C>T (p.Asp573=) c.1827C>T (p.Asp609=) c.1791C>T (p.Asp597=) c.1749C>T (p.Asp583=) c.1679+4953C>T (n.1679+4953C>T) c.1845C>T (p.Asp615=) c.1911C>T (p.Asp637=) c.1908C>T (p.Asp636=) c.1881C>T (p.Asp627=) c.1800C>T (p.Asp600=) c.1785C>T (p.Asp595=) c.1392C>T (p.Asp464=) c.1854C>T (p.Asp618=) c.1788C>T (p.Asp596=) c.1746C>T (p.Asp582=) c.819C>T (p.Asp273=) | |
20 | g.63408497G>C | CA409640375 | KCNQ2 | c.1857C>G (p.Asp619Glu) c.1803C>G (p.Asp601Glu) c.129C>G c.1200C>G (p.Asp400Glu) c.1710C>G (p.Asp570Glu) c.1371C>G (p.Asp457Glu) c.1719C>G (p.Asp573Glu) c.1827C>G (p.Asp609Glu) c.1791C>G (p.Asp597Glu) c.1749C>G (p.Asp583Glu) c.1679+4953C>G (n.1679+4953C>G) c.1845C>G (p.Asp615Glu) c.1911C>G (p.Asp637Glu) c.1908C>G (p.Asp636Glu) c.1881C>G (p.Asp627Glu) c.1800C>G (p.Asp600Glu) c.1785C>G (p.Asp595Glu) c.1392C>G (p.Asp464Glu) c.1854C>G (p.Asp618Glu) c.1788C>G (p.Asp596Glu) c.1746C>G (p.Asp582Glu) c.819C>G (p.Asp273Glu) | |
20 | g.63408497G>T | CA409640377 | KCNQ2 | c.1857C>A (p.Asp619Glu) c.1803C>A (p.Asp601Glu) c.129C>A c.1200C>A (p.Asp400Glu) c.1710C>A (p.Asp570Glu) c.1371C>A (p.Asp457Glu) c.1719C>A (p.Asp573Glu) c.1827C>A (p.Asp609Glu) c.1791C>A (p.Asp597Glu) c.1749C>A (p.Asp583Glu) c.1679+4953C>A (n.1679+4953C>A) c.1845C>A (p.Asp615Glu) c.1911C>A (p.Asp637Glu) c.1908C>A (p.Asp636Glu) c.1881C>A (p.Asp627Glu) c.1800C>A (p.Asp600Glu) c.1785C>A (p.Asp595Glu) c.1392C>A (p.Asp464Glu) c.1854C>A (p.Asp618Glu) c.1788C>A (p.Asp596Glu) c.1746C>A (p.Asp582Glu) c.819C>A (p.Asp273Glu) | |
20 | g.63408498T>A | CA409640379 | KCNQ2 | c.1856A>T (p.Asp619Val) c.1802A>T (p.Asp601Val) c.128A>T c.1199A>T (p.Asp400Val) c.1709A>T (p.Asp570Val) c.1370A>T (p.Asp457Val) c.1718A>T (p.Asp573Val) c.1826A>T (p.Asp609Val) c.1790A>T (p.Asp597Val) c.1748A>T (p.Asp583Val) c.1679+4952A>T (n.1679+4952A>T) c.1844A>T (p.Asp615Val) c.1910A>T (p.Asp637Val) c.1907A>T (p.Asp636Val) c.1880A>T (p.Asp627Val) c.1799A>T (p.Asp600Val) c.1784A>T (p.Asp595Val) c.1391A>T (p.Asp464Val) c.1853A>T (p.Asp618Val) c.1787A>T (p.Asp596Val) c.1745A>T (p.Asp582Val) c.818A>T (p.Asp273Val) | |
20 | g.63408498T>C | CA409640380 | KCNQ2 | c.1856A>G (p.Asp619Gly) c.1802A>G (p.Asp601Gly) c.128A>G c.1199A>G (p.Asp400Gly) c.1709A>G (p.Asp570Gly) c.1370A>G (p.Asp457Gly) c.1718A>G (p.Asp573Gly) c.1826A>G (p.Asp609Gly) c.1790A>G (p.Asp597Gly) c.1748A>G (p.Asp583Gly) c.1679+4952A>G (n.1679+4952A>G) c.1844A>G (p.Asp615Gly) c.1910A>G (p.Asp637Gly) c.1907A>G (p.Asp636Gly) c.1880A>G (p.Asp627Gly) c.1799A>G (p.Asp600Gly) c.1784A>G (p.Asp595Gly) c.1391A>G (p.Asp464Gly) c.1853A>G (p.Asp618Gly) c.1787A>G (p.Asp596Gly) c.1745A>G (p.Asp582Gly) c.818A>G (p.Asp273Gly) | |
20 | g.63408498T>G | CA409640381 | KCNQ2 | c.1856A>C (p.Asp619Ala) c.1802A>C (p.Asp601Ala) c.128A>C c.1199A>C (p.Asp400Ala) c.1709A>C (p.Asp570Ala) c.1370A>C (p.Asp457Ala) c.1718A>C (p.Asp573Ala) c.1826A>C (p.Asp609Ala) c.1790A>C (p.Asp597Ala) c.1748A>C (p.Asp583Ala) c.1679+4952A>C (n.1679+4952A>C) c.1844A>C (p.Asp615Ala) c.1910A>C (p.Asp637Ala) c.1907A>C (p.Asp636Ala) c.1880A>C (p.Asp627Ala) c.1799A>C (p.Asp600Ala) c.1784A>C (p.Asp595Ala) c.1391A>C (p.Asp464Ala) c.1853A>C (p.Asp618Ala) c.1787A>C (p.Asp596Ala) c.1745A>C (p.Asp582Ala) c.818A>C (p.Asp273Ala) | |
20 | g.63408499C>A | CA409640384 | KCNQ2 | c.1855G>T (p.Asp619Tyr) c.1801G>T (p.Asp601Tyr) c.127G>T c.1198G>T (p.Asp400Tyr) c.1708G>T (p.Asp570Tyr) c.1369G>T (p.Asp457Tyr) c.1717G>T (p.Asp573Tyr) c.1825G>T (p.Asp609Tyr) c.1789G>T (p.Asp597Tyr) c.1747G>T (p.Asp583Tyr) c.1679+4951G>T (n.1679+4951G>T) c.1843G>T (p.Asp615Tyr) c.1909G>T (p.Asp637Tyr) c.1906G>T (p.Asp636Tyr) c.1879G>T (p.Asp627Tyr) c.1798G>T (p.Asp600Tyr) c.1783G>T (p.Asp595Tyr) c.1390G>T (p.Asp464Tyr) c.1852G>T (p.Asp618Tyr) c.1786G>T (p.Asp596Tyr) c.1744G>T (p.Asp582Tyr) c.817G>T (p.Asp273Tyr) | |
20 | g.63408499C= | CA2374775229 | KCNQ2 | c.1855G= (p.Asp619=) c.1801G= (p.Asp601=) c.127G= c.1198G= (p.Asp400=) c.1708G= (p.Asp570=) c.1369G= (p.Asp457=) c.1717G= (p.Asp573=) c.1825G= (p.Asp609=) c.1789G= (p.Asp597=) c.1747G= (p.Asp583=) c.1679+4951G= (n.1679+4951G=) c.1843G= (p.Asp615=) c.1909G= (p.Asp637=) c.1906G= (p.Asp636=) c.1879G= (p.Asp627=) c.1798G= (p.Asp600=) c.1783G= (p.Asp595=) c.1390G= (p.Asp464=) c.1852G= (p.Asp618=) c.1786G= (p.Asp596=) c.1744G= (p.Asp582=) c.817G= (p.Asp273=) | |
20 | g.63408499C>G | CA409640385 | KCNQ2 | c.1855G>C (p.Asp619His) c.1801G>C (p.Asp601His) c.127G>C c.1198G>C (p.Asp400His) c.1708G>C (p.Asp570His) c.1369G>C (p.Asp457His) c.1717G>C (p.Asp573His) c.1825G>C (p.Asp609His) c.1789G>C (p.Asp597His) c.1747G>C (p.Asp583His) c.1679+4951G>C (n.1679+4951G>C) c.1843G>C (p.Asp615His) c.1909G>C (p.Asp637His) c.1906G>C (p.Asp636His) c.1879G>C (p.Asp627His) c.1798G>C (p.Asp600His) c.1783G>C (p.Asp595His) c.1390G>C (p.Asp464His) c.1852G>C (p.Asp618His) c.1786G>C (p.Asp596His) c.1744G>C (p.Asp582His) c.817G>C (p.Asp273His) | |
20 | g.63408499C>T | CA9958241 | KCNQ2 | c.1855G>A (p.Asp619Asn) c.1801G>A (p.Asp601Asn) c.127G>A c.1198G>A (p.Asp400Asn) c.1708G>A (p.Asp570Asn) c.1369G>A (p.Asp457Asn) c.1717G>A (p.Asp573Asn) c.1825G>A (p.Asp609Asn) c.1789G>A (p.Asp597Asn) c.1747G>A (p.Asp583Asn) c.1679+4951G>A (n.1679+4951G>A) c.1843G>A (p.Asp615Asn) c.1909G>A (p.Asp637Asn) c.1906G>A (p.Asp636Asn) c.1879G>A (p.Asp627Asn) c.1798G>A (p.Asp600Asn) c.1783G>A (p.Asp595Asn) c.1390G>A (p.Asp464Asn) c.1852G>A (p.Asp618Asn) c.1786G>A (p.Asp596Asn) c.1744G>A (p.Asp582Asn) c.817G>A (p.Asp273Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63408500C>A | CA511203578 | KCNQ2 | c.1854G>T (p.Thr618=) c.1800G>T (p.Thr600=) c.126G>T c.1197G>T (p.Thr399=) c.1707G>T (p.Thr569=) c.1368G>T (p.Thr456=) c.1716G>T (p.Thr572=) c.1824G>T (p.Thr608=) c.1788G>T (p.Thr596=) c.1746G>T (p.Thr582=) c.1679+4950G>T (n.1679+4950G>T) c.1842G>T (p.Thr614=) c.1908G>T (p.Thr636=) c.1905G>T (p.Thr635=) c.1878G>T (p.Thr626=) c.1797G>T (p.Thr599=) c.1782G>T (p.Thr594=) c.1389G>T (p.Thr463=) c.1851G>T (p.Thr617=) c.1785G>T (p.Thr595=) c.1743G>T (p.Thr581=) c.816G>T (p.Thr272=) | gnomAD v4 |
20 | g.63408500C= | CA2374775230 | KCNQ2 | c.1854G= (p.Thr618=) c.1800G= (p.Thr600=) c.126G= c.1197G= (p.Thr399=) c.1707G= (p.Thr569=) c.1368G= (p.Thr456=) c.1716G= (p.Thr572=) c.1824G= (p.Thr608=) c.1788G= (p.Thr596=) c.1746G= (p.Thr582=) c.1679+4950G= (n.1679+4950G=) c.1842G= (p.Thr614=) c.1908G= (p.Thr636=) c.1905G= (p.Thr635=) c.1878G= (p.Thr626=) c.1797G= (p.Thr599=) c.1782G= (p.Thr594=) c.1389G= (p.Thr463=) c.1851G= (p.Thr617=) c.1785G= (p.Thr595=) c.1743G= (p.Thr581=) c.816G= (p.Thr272=) | |
20 | g.63408500C>G | CA511203577 | KCNQ2 | c.1854G>C (p.Thr618=) c.1800G>C (p.Thr600=) c.126G>C c.1197G>C (p.Thr399=) c.1707G>C (p.Thr569=) c.1368G>C (p.Thr456=) c.1716G>C (p.Thr572=) c.1824G>C (p.Thr608=) c.1788G>C (p.Thr596=) c.1746G>C (p.Thr582=) c.1679+4950G>C (n.1679+4950G>C) c.1842G>C (p.Thr614=) c.1908G>C (p.Thr636=) c.1905G>C (p.Thr635=) c.1878G>C (p.Thr626=) c.1797G>C (p.Thr599=) c.1782G>C (p.Thr594=) c.1389G>C (p.Thr463=) c.1851G>C (p.Thr617=) c.1785G>C (p.Thr595=) c.1743G>C (p.Thr581=) c.816G>C (p.Thr272=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63408500C>T | CA231201 | KCNQ2 | c.1854G>A (p.Thr618=) c.1800G>A (p.Thr600=) c.126G>A c.1197G>A (p.Thr399=) c.1707G>A (p.Thr569=) c.1368G>A (p.Thr456=) c.1716G>A (p.Thr572=) c.1824G>A (p.Thr608=) c.1788G>A (p.Thr596=) c.1746G>A (p.Thr582=) c.1679+4950G>A (n.1679+4950G>A) c.1842G>A (p.Thr614=) c.1908G>A (p.Thr636=) c.1905G>A (p.Thr635=) c.1878G>A (p.Thr626=) c.1797G>A (p.Thr599=) c.1782G>A (p.Thr594=) c.1389G>A (p.Thr463=) c.1851G>A (p.Thr617=) c.1785G>A (p.Thr595=) c.1743G>A (p.Thr581=) c.816G>A (p.Thr272=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63408501G>A | CA409640387 | KCNQ2 | c.1853C>T (p.Thr618Met) c.1799C>T (p.Thr600Met) c.125C>T c.1196C>T (p.Thr399Met) c.1706C>T (p.Thr569Met) c.1367C>T (p.Thr456Met) c.1715C>T (p.Thr572Met) c.1823C>T (p.Thr608Met) c.1787C>T (p.Thr596Met) c.1745C>T (p.Thr582Met) c.1679+4949C>T (n.1679+4949C>T) c.1841C>T (p.Thr614Met) c.1907C>T (p.Thr636Met) c.1904C>T (p.Thr635Met) c.1877C>T (p.Thr626Met) c.1796C>T (p.Thr599Met) c.1781C>T (p.Thr594Met) c.1388C>T (p.Thr463Met) c.1850C>T (p.Thr617Met) c.1784C>T (p.Thr595Met) c.1742C>T (p.Thr581Met) c.815C>T (p.Thr272Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63408501G>C | CA409640389 | KCNQ2 | c.1853C>G (p.Thr618Arg) c.1799C>G (p.Thr600Arg) c.125C>G c.1196C>G (p.Thr399Arg) c.1706C>G (p.Thr569Arg) c.1367C>G (p.Thr456Arg) c.1715C>G (p.Thr572Arg) c.1823C>G (p.Thr608Arg) c.1787C>G (p.Thr596Arg) c.1745C>G (p.Thr582Arg) c.1679+4949C>G (n.1679+4949C>G) c.1841C>G (p.Thr614Arg) c.1907C>G (p.Thr636Arg) c.1904C>G (p.Thr635Arg) c.1877C>G (p.Thr626Arg) c.1796C>G (p.Thr599Arg) c.1781C>G (p.Thr594Arg) c.1388C>G (p.Thr463Arg) c.1850C>G (p.Thr617Arg) c.1784C>G (p.Thr595Arg) c.1742C>G (p.Thr581Arg) c.815C>G (p.Thr272Arg) | |
20 | g.63408501G= | CA2374775231 | KCNQ2 | c.1853C= (p.Thr618=) c.1799C= (p.Thr600=) c.125C= c.1196C= (p.Thr399=) c.1706C= (p.Thr569=) c.1367C= (p.Thr456=) c.1715C= (p.Thr572=) c.1823C= (p.Thr608=) c.1787C= (p.Thr596=) c.1745C= (p.Thr582=) c.1679+4949C= (n.1679+4949C=) c.1841C= (p.Thr614=) c.1907C= (p.Thr636=) c.1904C= (p.Thr635=) c.1877C= (p.Thr626=) c.1796C= (p.Thr599=) c.1781C= (p.Thr594=) c.1388C= (p.Thr463=) c.1850C= (p.Thr617=) c.1784C= (p.Thr595=) c.1742C= (p.Thr581=) c.815C= (p.Thr272=) | |
20 | g.63408501G>T | CA409640391 | KCNQ2 | c.1853C>A (p.Thr618Lys) c.1799C>A (p.Thr600Lys) c.125C>A c.1196C>A (p.Thr399Lys) c.1706C>A (p.Thr569Lys) c.1367C>A (p.Thr456Lys) c.1715C>A (p.Thr572Lys) c.1823C>A (p.Thr608Lys) c.1787C>A (p.Thr596Lys) c.1745C>A (p.Thr582Lys) c.1679+4949C>A (n.1679+4949C>A) c.1841C>A (p.Thr614Lys) c.1907C>A (p.Thr636Lys) c.1904C>A (p.Thr635Lys) c.1877C>A (p.Thr626Lys) c.1796C>A (p.Thr599Lys) c.1781C>A (p.Thr594Lys) c.1388C>A (p.Thr463Lys) c.1850C>A (p.Thr617Lys) c.1784C>A (p.Thr595Lys) c.1742C>A (p.Thr581Lys) c.815C>A (p.Thr272Lys) | gnomAD v4 |
20 | g.63408502T>A | CA409640392 | KCNQ2 | c.1852A>T (p.Thr618Ser) c.1798A>T (p.Thr600Ser) c.124A>T c.1195A>T (p.Thr399Ser) c.1705A>T (p.Thr569Ser) c.1366A>T (p.Thr456Ser) c.1714A>T (p.Thr572Ser) c.1822A>T (p.Thr608Ser) c.1786A>T (p.Thr596Ser) c.1744A>T (p.Thr582Ser) c.1679+4948A>T (n.1679+4948A>T) c.1840A>T (p.Thr614Ser) c.1906A>T (p.Thr636Ser) c.1903A>T (p.Thr635Ser) c.1876A>T (p.Thr626Ser) c.1795A>T (p.Thr599Ser) c.1780A>T (p.Thr594Ser) c.1387A>T (p.Thr463Ser) c.1849A>T (p.Thr617Ser) c.1783A>T (p.Thr595Ser) c.1741A>T (p.Thr581Ser) c.814A>T (p.Thr272Ser) | |
20 | g.63408502T>C | CA409640395 | KCNQ2 | c.1852A>G (p.Thr618Ala) c.1798A>G (p.Thr600Ala) c.124A>G c.1195A>G (p.Thr399Ala) c.1705A>G (p.Thr569Ala) c.1366A>G (p.Thr456Ala) c.1714A>G (p.Thr572Ala) c.1822A>G (p.Thr608Ala) c.1786A>G (p.Thr596Ala) c.1744A>G (p.Thr582Ala) c.1679+4948A>G (n.1679+4948A>G) c.1840A>G (p.Thr614Ala) c.1906A>G (p.Thr636Ala) c.1903A>G (p.Thr635Ala) c.1876A>G (p.Thr626Ala) c.1795A>G (p.Thr599Ala) c.1780A>G (p.Thr594Ala) c.1387A>G (p.Thr463Ala) c.1849A>G (p.Thr617Ala) c.1783A>G (p.Thr595Ala) c.1741A>G (p.Thr581Ala) c.814A>G (p.Thr272Ala) | |
20 | g.63408502T>G | CA409640393 | KCNQ2 | c.1852A>C (p.Thr618Pro) c.1798A>C (p.Thr600Pro) c.124A>C c.1195A>C (p.Thr399Pro) c.1705A>C (p.Thr569Pro) c.1366A>C (p.Thr456Pro) c.1714A>C (p.Thr572Pro) c.1822A>C (p.Thr608Pro) c.1786A>C (p.Thr596Pro) c.1744A>C (p.Thr582Pro) c.1679+4948A>C (n.1679+4948A>C) c.1840A>C (p.Thr614Pro) c.1906A>C (p.Thr636Pro) c.1903A>C (p.Thr635Pro) c.1876A>C (p.Thr626Pro) c.1795A>C (p.Thr599Pro) c.1780A>C (p.Thr594Pro) c.1387A>C (p.Thr463Pro) c.1849A>C (p.Thr617Pro) c.1783A>C (p.Thr595Pro) c.1741A>C (p.Thr581Pro) c.814A>C (p.Thr272Pro) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63408502T= | CA2374775232 | KCNQ2 | c.1852A= (p.Thr618=) c.1798A= (p.Thr600=) c.124A= c.1195A= (p.Thr399=) c.1705A= (p.Thr569=) c.1366A= (p.Thr456=) c.1714A= (p.Thr572=) c.1822A= (p.Thr608=) c.1786A= (p.Thr596=) c.1744A= (p.Thr582=) c.1679+4948A= (n.1679+4948A=) c.1840A= (p.Thr614=) c.1906A= (p.Thr636=) c.1903A= (p.Thr635=) c.1876A= (p.Thr626=) c.1795A= (p.Thr599=) c.1780A= (p.Thr594=) c.1387A= (p.Thr463=) c.1849A= (p.Thr617=) c.1783A= (p.Thr595=) c.1741A= (p.Thr581=) c.814A= (p.Thr272=) | |
20 | g.63408503G>A | CA511203579 | KCNQ2 | c.1851C>T (p.Ile617=) c.1797C>T (p.Ile599=) c.123C>T c.1194C>T (p.Ile398=) c.1704C>T (p.Ile568=) c.1365C>T (p.Ile455=) c.1713C>T (p.Ile571=) c.1821C>T (p.Ile607=) c.1785C>T (p.Ile595=) c.1743C>T (p.Ile581=) c.1679+4947C>T (n.1679+4947C>T) c.1839C>T (p.Ile613=) c.1905C>T (p.Ile635=) c.1902C>T (p.Ile634=) c.1875C>T (p.Ile625=) c.1794C>T (p.Ile598=) c.1779C>T (p.Ile593=) c.1386C>T (p.Ile462=) c.1848C>T (p.Ile616=) c.1782C>T (p.Ile594=) c.1740C>T (p.Ile580=) c.813C>T (p.Ile271=) | |
20 | g.63408503G>C | CA409640397 | KCNQ2 | c.1851C>G (p.Ile617Met) c.1797C>G (p.Ile599Met) c.123C>G c.1194C>G (p.Ile398Met) c.1704C>G (p.Ile568Met) c.1365C>G (p.Ile455Met) c.1713C>G (p.Ile571Met) c.1821C>G (p.Ile607Met) c.1785C>G (p.Ile595Met) c.1743C>G (p.Ile581Met) c.1679+4947C>G (n.1679+4947C>G) c.1839C>G (p.Ile613Met) c.1905C>G (p.Ile635Met) c.1902C>G (p.Ile634Met) c.1875C>G (p.Ile625Met) c.1794C>G (p.Ile598Met) c.1779C>G (p.Ile593Met) c.1386C>G (p.Ile462Met) c.1848C>G (p.Ile616Met) c.1782C>G (p.Ile594Met) c.1740C>G (p.Ile580Met) c.813C>G (p.Ile271Met) | |
20 | g.63408503G>T | CA511203580 | KCNQ2 | c.1851C>A (p.Ile617=) c.1797C>A (p.Ile599=) c.123C>A c.1194C>A (p.Ile398=) c.1704C>A (p.Ile568=) c.1365C>A (p.Ile455=) c.1713C>A (p.Ile571=) c.1821C>A (p.Ile607=) c.1785C>A (p.Ile595=) c.1743C>A (p.Ile581=) c.1679+4947C>A (n.1679+4947C>A) c.1839C>A (p.Ile613=) c.1905C>A (p.Ile635=) c.1902C>A (p.Ile634=) c.1875C>A (p.Ile625=) c.1794C>A (p.Ile598=) c.1779C>A (p.Ile593=) c.1386C>A (p.Ile462=) c.1848C>A (p.Ile616=) c.1782C>A (p.Ile594=) c.1740C>A (p.Ile580=) c.813C>A (p.Ile271=) | gnomAD v4 |
20 | g.63408504A>C | CA409640398 | KCNQ2 | c.1850T>G (p.Ile617Ser) c.1796T>G (p.Ile599Ser) c.122T>G c.1193T>G (p.Ile398Ser) c.1703T>G (p.Ile568Ser) c.1364T>G (p.Ile455Ser) c.1712T>G (p.Ile571Ser) c.1820T>G (p.Ile607Ser) c.1784T>G (p.Ile595Ser) c.1742T>G (p.Ile581Ser) c.1679+4946T>G (n.1679+4946T>G) c.1838T>G (p.Ile613Ser) c.1904T>G (p.Ile635Ser) c.1901T>G (p.Ile634Ser) c.1874T>G (p.Ile625Ser) c.1793T>G (p.Ile598Ser) c.1778T>G (p.Ile593Ser) c.1385T>G (p.Ile462Ser) c.1847T>G (p.Ile616Ser) c.1781T>G (p.Ile594Ser) c.1739T>G (p.Ile580Ser) c.812T>G (p.Ile271Ser) | |
20 | g.63408504A>G | CA409640400 | KCNQ2 | c.1850T>C (p.Ile617Thr) c.1796T>C (p.Ile599Thr) c.122T>C c.1193T>C (p.Ile398Thr) c.1703T>C (p.Ile568Thr) c.1364T>C (p.Ile455Thr) c.1712T>C (p.Ile571Thr) c.1820T>C (p.Ile607Thr) c.1784T>C (p.Ile595Thr) c.1742T>C (p.Ile581Thr) c.1679+4946T>C (n.1679+4946T>C) c.1838T>C (p.Ile613Thr) c.1904T>C (p.Ile635Thr) c.1901T>C (p.Ile634Thr) c.1874T>C (p.Ile625Thr) c.1793T>C (p.Ile598Thr) c.1778T>C (p.Ile593Thr) c.1385T>C (p.Ile462Thr) c.1847T>C (p.Ile616Thr) c.1781T>C (p.Ile594Thr) c.1739T>C (p.Ile580Thr) c.812T>C (p.Ile271Thr) | |
20 | g.63408504A>T | CA409640401 | KCNQ2 | c.1850T>A (p.Ile617Asn) c.1796T>A (p.Ile599Asn) c.122T>A c.1193T>A (p.Ile398Asn) c.1703T>A (p.Ile568Asn) c.1364T>A (p.Ile455Asn) c.1712T>A (p.Ile571Asn) c.1820T>A (p.Ile607Asn) c.1784T>A (p.Ile595Asn) c.1742T>A (p.Ile581Asn) c.1679+4946T>A (n.1679+4946T>A) c.1838T>A (p.Ile613Asn) c.1904T>A (p.Ile635Asn) c.1901T>A (p.Ile634Asn) c.1874T>A (p.Ile625Asn) c.1793T>A (p.Ile598Asn) c.1778T>A (p.Ile593Asn) c.1385T>A (p.Ile462Asn) c.1847T>A (p.Ile616Asn) c.1781T>A (p.Ile594Asn) c.1739T>A (p.Ile580Asn) c.812T>A (p.Ile271Asn) | |
20 | g.63408505T>A | CA409640403 | KCNQ2 | c.1849A>T (p.Ile617Phe) c.1795A>T (p.Ile599Phe) c.121A>T c.1192A>T (p.Ile398Phe) c.1702A>T (p.Ile568Phe) c.1363A>T (p.Ile455Phe) c.1711A>T (p.Ile571Phe) c.1819A>T (p.Ile607Phe) c.1783A>T (p.Ile595Phe) c.1741A>T (p.Ile581Phe) c.1679+4945A>T (n.1679+4945A>T) c.1837A>T (p.Ile613Phe) c.1903A>T (p.Ile635Phe) c.1900A>T (p.Ile634Phe) c.1873A>T (p.Ile625Phe) c.1792A>T (p.Ile598Phe) c.1777A>T (p.Ile593Phe) c.1384A>T (p.Ile462Phe) c.1846A>T (p.Ile616Phe) c.1780A>T (p.Ile594Phe) c.1738A>T (p.Ile580Phe) c.811A>T (p.Ile271Phe) | |
20 | g.63408505T>C | CA409640404 | KCNQ2 | c.1849A>G (p.Ile617Val) c.1795A>G (p.Ile599Val) c.121A>G c.1192A>G (p.Ile398Val) c.1702A>G (p.Ile568Val) c.1363A>G (p.Ile455Val) c.1711A>G (p.Ile571Val) c.1819A>G (p.Ile607Val) c.1783A>G (p.Ile595Val) c.1741A>G (p.Ile581Val) c.1679+4945A>G (n.1679+4945A>G) c.1837A>G (p.Ile613Val) c.1903A>G (p.Ile635Val) c.1900A>G (p.Ile634Val) c.1873A>G (p.Ile625Val) c.1792A>G (p.Ile598Val) c.1777A>G (p.Ile593Val) c.1384A>G (p.Ile462Val) c.1846A>G (p.Ile616Val) c.1780A>G (p.Ile594Val) c.1738A>G (p.Ile580Val) c.811A>G (p.Ile271Val) | |
20 | g.63408505T>G | CA409640406 | KCNQ2 | c.1849A>C (p.Ile617Leu) c.1795A>C (p.Ile599Leu) c.121A>C c.1192A>C (p.Ile398Leu) c.1702A>C (p.Ile568Leu) c.1363A>C (p.Ile455Leu) c.1711A>C (p.Ile571Leu) c.1819A>C (p.Ile607Leu) c.1783A>C (p.Ile595Leu) c.1741A>C (p.Ile581Leu) c.1679+4945A>C (n.1679+4945A>C) c.1837A>C (p.Ile613Leu) c.1903A>C (p.Ile635Leu) c.1900A>C (p.Ile634Leu) c.1873A>C (p.Ile625Leu) c.1792A>C (p.Ile598Leu) c.1777A>C (p.Ile593Leu) c.1384A>C (p.Ile462Leu) c.1846A>C (p.Ile616Leu) c.1780A>C (p.Ile594Leu) c.1738A>C (p.Ile580Leu) c.811A>C (p.Ile271Leu) | |
20 | g.63408506C>A | CA9958242 | KCNQ2 | c.1848G>T (p.Ala616=) c.1794G>T (p.Ala598=) c.120G>T c.1191G>T (p.Ala397=) c.1701G>T (p.Ala567=) c.1362G>T (p.Ala454=) c.1710G>T (p.Ala570=) c.1818G>T (p.Ala606=) c.1782G>T (p.Ala594=) c.1740G>T (p.Ala580=) c.1679+4944G>T (n.1679+4944G>T) c.1836G>T (p.Ala612=) c.1902G>T (p.Ala634=) c.1899G>T (p.Ala633=) c.1872G>T (p.Ala624=) c.1791G>T (p.Ala597=) c.1776G>T (p.Ala592=) c.1383G>T (p.Ala461=) c.1845G>T (p.Ala615=) c.1779G>T (p.Ala593=) c.1737G>T (p.Ala579=) c.810G>T (p.Ala270=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63408506C= | CA2374775233 | KCNQ2 | c.1848G= (p.Ala616=) c.1794G= (p.Ala598=) c.120G= c.1191G= (p.Ala397=) c.1701G= (p.Ala567=) c.1362G= (p.Ala454=) c.1710G= (p.Ala570=) c.1818G= (p.Ala606=) c.1782G= (p.Ala594=) c.1740G= (p.Ala580=) c.1679+4944G= (n.1679+4944G=) c.1836G= (p.Ala612=) c.1902G= (p.Ala634=) c.1899G= (p.Ala633=) c.1872G= (p.Ala624=) c.1791G= (p.Ala597=) c.1776G= (p.Ala592=) c.1383G= (p.Ala461=) c.1845G= (p.Ala615=) c.1779G= (p.Ala593=) c.1737G= (p.Ala579=) c.810G= (p.Ala270=) | |
20 | g.63408506C>G | CA511203581 | KCNQ2 | c.1848G>C (p.Ala616=) c.1794G>C (p.Ala598=) c.120G>C c.1191G>C (p.Ala397=) c.1701G>C (p.Ala567=) c.1362G>C (p.Ala454=) c.1710G>C (p.Ala570=) c.1818G>C (p.Ala606=) c.1782G>C (p.Ala594=) c.1740G>C (p.Ala580=) c.1679+4944G>C (n.1679+4944G>C) c.1836G>C (p.Ala612=) c.1902G>C (p.Ala634=) c.1899G>C (p.Ala633=) c.1872G>C (p.Ala624=) c.1791G>C (p.Ala597=) c.1776G>C (p.Ala592=) c.1383G>C (p.Ala461=) c.1845G>C (p.Ala615=) c.1779G>C (p.Ala593=) c.1737G>C (p.Ala579=) c.810G>C (p.Ala270=) | |
20 | g.63408506C>T | CA317423712 | KCNQ2 | c.1848G>A (p.Ala616=) c.1794G>A (p.Ala598=) c.120G>A c.1191G>A (p.Ala397=) c.1701G>A (p.Ala567=) c.1362G>A (p.Ala454=) c.1710G>A (p.Ala570=) c.1818G>A (p.Ala606=) c.1782G>A (p.Ala594=) c.1740G>A (p.Ala580=) c.1679+4944G>A (n.1679+4944G>A) c.1836G>A (p.Ala612=) c.1902G>A (p.Ala634=) c.1899G>A (p.Ala633=) c.1872G>A (p.Ala624=) c.1791G>A (p.Ala597=) c.1776G>A (p.Ala592=) c.1383G>A (p.Ala461=) c.1845G>A (p.Ala615=) c.1779G>A (p.Ala593=) c.1737G>A (p.Ala579=) c.810G>A (p.Ala270=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63408507G>A | CA315498 | KCNQ2 | c.1847C>T (p.Ala616Val) c.1793C>T (p.Ala598Val) c.119C>T c.1190C>T (p.Ala397Val) c.1700C>T (p.Ala567Val) c.1361C>T (p.Ala454Val) c.1709C>T (p.Ala570Val) c.1817C>T (p.Ala606Val) c.1781C>T (p.Ala594Val) c.1739C>T (p.Ala580Val) c.1679+4943C>T (n.1679+4943C>T) c.1835C>T (p.Ala612Val) c.1901C>T (p.Ala634Val) c.1898C>T (p.Ala633Val) c.1871C>T (p.Ala624Val) c.1790C>T (p.Ala597Val) c.1775C>T (p.Ala592Val) c.1382C>T (p.Ala461Val) c.1844C>T (p.Ala615Val) c.1778C>T (p.Ala593Val) c.1736C>T (p.Ala579Val) c.809C>T (p.Ala270Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63408507G>C | CA409640408 | KCNQ2 | c.1847C>G (p.Ala616Gly) c.1793C>G (p.Ala598Gly) c.119C>G c.1190C>G (p.Ala397Gly) c.1700C>G (p.Ala567Gly) c.1361C>G (p.Ala454Gly) c.1709C>G (p.Ala570Gly) c.1817C>G (p.Ala606Gly) c.1781C>G (p.Ala594Gly) c.1739C>G (p.Ala580Gly) c.1679+4943C>G (n.1679+4943C>G) c.1835C>G (p.Ala612Gly) c.1901C>G (p.Ala634Gly) c.1898C>G (p.Ala633Gly) c.1871C>G (p.Ala624Gly) c.1790C>G (p.Ala597Gly) c.1775C>G (p.Ala592Gly) c.1382C>G (p.Ala461Gly) c.1844C>G (p.Ala615Gly) c.1778C>G (p.Ala593Gly) c.1736C>G (p.Ala579Gly) c.809C>G (p.Ala270Gly) | |
20 | g.63408507G= | CA2374775234 | KCNQ2 | c.1847C= (p.Ala616=) c.1793C= (p.Ala598=) c.119C= c.1190C= (p.Ala397=) c.1700C= (p.Ala567=) c.1361C= (p.Ala454=) c.1709C= (p.Ala570=) c.1817C= (p.Ala606=) c.1781C= (p.Ala594=) c.1739C= (p.Ala580=) c.1679+4943C= (n.1679+4943C=) c.1835C= (p.Ala612=) c.1901C= (p.Ala634=) c.1898C= (p.Ala633=) c.1871C= (p.Ala624=) c.1790C= (p.Ala597=) c.1775C= (p.Ala592=) c.1382C= (p.Ala461=) c.1844C= (p.Ala615=) c.1778C= (p.Ala593=) c.1736C= (p.Ala579=) c.809C= (p.Ala270=) | |
20 | g.63408507G>T | CA409640409 | KCNQ2 | c.1847C>A (p.Ala616Glu) c.1793C>A (p.Ala598Glu) c.119C>A c.1190C>A (p.Ala397Glu) c.1700C>A (p.Ala567Glu) c.1361C>A (p.Ala454Glu) c.1709C>A (p.Ala570Glu) c.1817C>A (p.Ala606Glu) c.1781C>A (p.Ala594Glu) c.1739C>A (p.Ala580Glu) c.1679+4943C>A (n.1679+4943C>A) c.1835C>A (p.Ala612Glu) c.1901C>A (p.Ala634Glu) c.1898C>A (p.Ala633Glu) c.1871C>A (p.Ala624Glu) c.1790C>A (p.Ala597Glu) c.1775C>A (p.Ala592Glu) c.1382C>A (p.Ala461Glu) c.1844C>A (p.Ala615Glu) c.1778C>A (p.Ala593Glu) c.1736C>A (p.Ala579Glu) c.809C>A (p.Ala270Glu) | gnomAD v4 |
20 | g.63408508C>A | CA409640411 | KCNQ2 | c.1846G>T (p.Ala616Ser) c.1792G>T (p.Ala598Ser) c.118G>T c.1189G>T (p.Ala397Ser) c.1699G>T (p.Ala567Ser) c.1360G>T (p.Ala454Ser) c.1708G>T (p.Ala570Ser) c.1816G>T (p.Ala606Ser) c.1780G>T (p.Ala594Ser) c.1738G>T (p.Ala580Ser) c.1679+4942G>T (n.1679+4942G>T) c.1834G>T (p.Ala612Ser) c.1900G>T (p.Ala634Ser) c.1897G>T (p.Ala633Ser) c.1870G>T (p.Ala624Ser) c.1789G>T (p.Ala597Ser) c.1774G>T (p.Ala592Ser) c.1381G>T (p.Ala461Ser) c.1843G>T (p.Ala615Ser) c.1777G>T (p.Ala593Ser) c.1735G>T (p.Ala579Ser) c.808G>T (p.Ala270Ser) | |
20 | g.63408508C= | CA2374775235 | KCNQ2 | c.1846G= (p.Ala616=) c.1792G= (p.Ala598=) c.118G= c.1189G= (p.Ala397=) c.1699G= (p.Ala567=) c.1360G= (p.Ala454=) c.1708G= (p.Ala570=) c.1816G= (p.Ala606=) c.1780G= (p.Ala594=) c.1738G= (p.Ala580=) c.1679+4942G= (n.1679+4942G=) c.1834G= (p.Ala612=) c.1900G= (p.Ala634=) c.1897G= (p.Ala633=) c.1870G= (p.Ala624=) c.1789G= (p.Ala597=) c.1774G= (p.Ala592=) c.1381G= (p.Ala461=) c.1843G= (p.Ala615=) c.1777G= (p.Ala593=) c.1735G= (p.Ala579=) c.808G= (p.Ala270=) | |
20 | g.63408508C>G | CA409640414 | KCNQ2 | c.1846G>C (p.Ala616Pro) c.1792G>C (p.Ala598Pro) c.118G>C c.1189G>C (p.Ala397Pro) c.1699G>C (p.Ala567Pro) c.1360G>C (p.Ala454Pro) c.1708G>C (p.Ala570Pro) c.1816G>C (p.Ala606Pro) c.1780G>C (p.Ala594Pro) c.1738G>C (p.Ala580Pro) c.1679+4942G>C (n.1679+4942G>C) c.1834G>C (p.Ala612Pro) c.1900G>C (p.Ala634Pro) c.1897G>C (p.Ala633Pro) c.1870G>C (p.Ala624Pro) c.1789G>C (p.Ala597Pro) c.1774G>C (p.Ala592Pro) c.1381G>C (p.Ala461Pro) c.1843G>C (p.Ala615Pro) c.1777G>C (p.Ala593Pro) c.1735G>C (p.Ala579Pro) c.808G>C (p.Ala270Pro) | |
20 | g.63408508C>T | CA409640412 | KCNQ2 | c.1846G>A (p.Ala616Thr) c.1792G>A (p.Ala598Thr) c.118G>A c.1189G>A (p.Ala397Thr) c.1699G>A (p.Ala567Thr) c.1360G>A (p.Ala454Thr) c.1708G>A (p.Ala570Thr) c.1816G>A (p.Ala606Thr) c.1780G>A (p.Ala594Thr) c.1738G>A (p.Ala580Thr) c.1679+4942G>A (n.1679+4942G>A) c.1834G>A (p.Ala612Thr) c.1900G>A (p.Ala634Thr) c.1897G>A (p.Ala633Thr) c.1870G>A (p.Ala624Thr) c.1789G>A (p.Ala597Thr) c.1774G>A (p.Ala592Thr) c.1381G>A (p.Ala461Thr) c.1843G>A (p.Ala615Thr) c.1777G>A (p.Ala593Thr) c.1735G>A (p.Ala579Thr) c.808G>A (p.Ala270Thr) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63408509T>A | CA511203582 | KCNQ2 | c.1845A>T (p.Pro615=) c.1791A>T (p.Pro597=) c.117A>T c.1188A>T (p.Pro396=) c.1698A>T (p.Pro566=) c.1359A>T (p.Pro453=) c.1707A>T (p.Pro569=) c.1815A>T (p.Pro605=) c.1779A>T (p.Pro593=) c.1737A>T (p.Pro579=) c.1679+4941A>T (n.1679+4941A>T) c.1833A>T (p.Pro611=) c.1899A>T (p.Pro633=) c.1896A>T (p.Pro632=) c.1869A>T (p.Pro623=) c.1788A>T (p.Pro596=) c.1773A>T (p.Pro591=) c.1380A>T (p.Pro460=) c.1842A>T (p.Pro614=) c.1776A>T (p.Pro592=) c.1734A>T (p.Pro578=) c.807A>T (p.Pro269=) | |
20 | g.63408509T>C | CA511203583 | KCNQ2 | c.1845A>G (p.Pro615=) c.1791A>G (p.Pro597=) c.117A>G c.1188A>G (p.Pro396=) c.1698A>G (p.Pro566=) c.1359A>G (p.Pro453=) c.1707A>G (p.Pro569=) c.1815A>G (p.Pro605=) c.1779A>G (p.Pro593=) c.1737A>G (p.Pro579=) c.1679+4941A>G (n.1679+4941A>G) c.1833A>G (p.Pro611=) c.1899A>G (p.Pro633=) c.1896A>G (p.Pro632=) c.1869A>G (p.Pro623=) c.1788A>G (p.Pro596=) c.1773A>G (p.Pro591=) c.1380A>G (p.Pro460=) c.1842A>G (p.Pro614=) c.1776A>G (p.Pro592=) c.1734A>G (p.Pro578=) c.807A>G (p.Pro269=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63408509T>G | CA511203584 | KCNQ2 | c.1845A>C (p.Pro615=) c.1791A>C (p.Pro597=) c.117A>C c.1188A>C (p.Pro396=) c.1698A>C (p.Pro566=) c.1359A>C (p.Pro453=) c.1707A>C (p.Pro569=) c.1815A>C (p.Pro605=) c.1779A>C (p.Pro593=) c.1737A>C (p.Pro579=) c.1679+4941A>C (n.1679+4941A>C) c.1833A>C (p.Pro611=) c.1899A>C (p.Pro633=) c.1896A>C (p.Pro632=) c.1869A>C (p.Pro623=) c.1788A>C (p.Pro596=) c.1773A>C (p.Pro591=) c.1380A>C (p.Pro460=) c.1842A>C (p.Pro614=) c.1776A>C (p.Pro592=) c.1734A>C (p.Pro578=) c.807A>C (p.Pro269=) | |
20 | g.63408509T= | CA2374775236 | KCNQ2 | c.1845A= (p.Pro615=) c.1791A= (p.Pro597=) c.117A= c.1188A= (p.Pro396=) c.1698A= (p.Pro566=) c.1359A= (p.Pro453=) c.1707A= (p.Pro569=) c.1815A= (p.Pro605=) c.1779A= (p.Pro593=) c.1737A= (p.Pro579=) c.1679+4941A= (n.1679+4941A=) c.1833A= (p.Pro611=) c.1899A= (p.Pro633=) c.1896A= (p.Pro632=) c.1869A= (p.Pro623=) c.1788A= (p.Pro596=) c.1773A= (p.Pro591=) c.1380A= (p.Pro460=) c.1842A= (p.Pro614=) c.1776A= (p.Pro592=) c.1734A= (p.Pro578=) c.807A= (p.Pro269=) | |
20 | g.63408510G>A | CA409640415 | KCNQ2 | c.1844C>T (p.Pro615Leu) c.1790C>T (p.Pro597Leu) c.116C>T c.1187C>T (p.Pro396Leu) c.1697C>T (p.Pro566Leu) c.1358C>T (p.Pro453Leu) c.1706C>T (p.Pro569Leu) c.1814C>T (p.Pro605Leu) c.1778C>T (p.Pro593Leu) c.1736C>T (p.Pro579Leu) c.1679+4940C>T (n.1679+4940C>T) c.1832C>T (p.Pro611Leu) c.1898C>T (p.Pro633Leu) c.1895C>T (p.Pro632Leu) c.1868C>T (p.Pro623Leu) c.1787C>T (p.Pro596Leu) c.1772C>T (p.Pro591Leu) c.1379C>T (p.Pro460Leu) c.1841C>T (p.Pro614Leu) c.1775C>T (p.Pro592Leu) c.1733C>T (p.Pro578Leu) c.806C>T (p.Pro269Leu) | gnomAD v4 |
20 | g.63408510G>C | CA409640416 | KCNQ2 | c.1844C>G (p.Pro615Arg) c.1790C>G (p.Pro597Arg) c.116C>G c.1187C>G (p.Pro396Arg) c.1697C>G (p.Pro566Arg) c.1358C>G (p.Pro453Arg) c.1706C>G (p.Pro569Arg) c.1814C>G (p.Pro605Arg) c.1778C>G (p.Pro593Arg) c.1736C>G (p.Pro579Arg) c.1679+4940C>G (n.1679+4940C>G) c.1832C>G (p.Pro611Arg) c.1898C>G (p.Pro633Arg) c.1895C>G (p.Pro632Arg) c.1868C>G (p.Pro623Arg) c.1787C>G (p.Pro596Arg) c.1772C>G (p.Pro591Arg) c.1379C>G (p.Pro460Arg) c.1841C>G (p.Pro614Arg) c.1775C>G (p.Pro592Arg) c.1733C>G (p.Pro578Arg) c.806C>G (p.Pro269Arg) | |
20 | g.63408510G= | CA2374775237 | KCNQ2 | c.1844C= (p.Pro615=) c.1790C= (p.Pro597=) c.116C= c.1187C= (p.Pro396=) c.1697C= (p.Pro566=) c.1358C= (p.Pro453=) c.1706C= (p.Pro569=) c.1814C= (p.Pro605=) c.1778C= (p.Pro593=) c.1736C= (p.Pro579=) c.1679+4940C= (n.1679+4940C=) c.1832C= (p.Pro611=) c.1898C= (p.Pro633=) c.1895C= (p.Pro632=) c.1868C= (p.Pro623=) c.1787C= (p.Pro596=) c.1772C= (p.Pro591=) c.1379C= (p.Pro460=) c.1841C= (p.Pro614=) c.1775C= (p.Pro592=) c.1733C= (p.Pro578=) c.806C= (p.Pro269=) | |
20 | g.63408510G>T | CA9958243 | KCNQ2 | c.1844C>A (p.Pro615Gln) c.1790C>A (p.Pro597Gln) c.116C>A c.1187C>A (p.Pro396Gln) c.1697C>A (p.Pro566Gln) c.1358C>A (p.Pro453Gln) c.1706C>A (p.Pro569Gln) c.1814C>A (p.Pro605Gln) c.1778C>A (p.Pro593Gln) c.1736C>A (p.Pro579Gln) c.1679+4940C>A (n.1679+4940C>A) c.1832C>A (p.Pro611Gln) c.1898C>A (p.Pro633Gln) c.1895C>A (p.Pro632Gln) c.1868C>A (p.Pro623Gln) c.1787C>A (p.Pro596Gln) c.1772C>A (p.Pro591Gln) c.1379C>A (p.Pro460Gln) c.1841C>A (p.Pro614Gln) c.1775C>A (p.Pro592Gln) c.1733C>A (p.Pro578Gln) c.806C>A (p.Pro269Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63408510_63408511insCACAGGGGTGAATGACTGTGGCTGTAGTGAGGACAGCAGGGGCTCTAATCTT | CA2741680081 | KCNQ2 | c.1843_1844insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro615GlnfsTer3) c.1789_1790insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro597GlnfsTer3) c.115_116insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG c.1186_1187insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro396GlnfsTer3) c.1696_1697insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro566GlnfsTer3) c.1357_1358insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro453GlnfsTer3) c.1705_1706insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro569GlnfsTer3) c.1813_1814insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro605GlnfsTer3) c.1777_1778insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro593GlnfsTer3) c.1735_1736insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro579GlnfsTer3) c.1679+4939_1679+4940insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (n.1679+4939_1679+4940insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG) c.1831_1832insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro611GlnfsTer3) c.1897_1898insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro633GlnfsTer3) c.1894_1895insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro632GlnfsTer3) c.1867_1868insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro623GlnfsTer3) c.1786_1787insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro596GlnfsTer3) c.1771_1772insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro591GlnfsTer3) c.1378_1379insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro460GlnfsTer3) c.1840_1841insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro614GlnfsTer3) c.1774_1775insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro592GlnfsTer3) c.1732_1733insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro578GlnfsTer3) c.805_806insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro269GlnfsTer3) | |
20 | g.63408511G>A | CA409640418 | KCNQ2 | c.1843C>T (p.Pro615Ser) c.1789C>T (p.Pro597Ser) c.115C>T c.1186C>T (p.Pro396Ser) c.1696C>T (p.Pro566Ser) c.1357C>T (p.Pro453Ser) c.1705C>T (p.Pro569Ser) c.1813C>T (p.Pro605Ser) c.1777C>T (p.Pro593Ser) c.1735C>T (p.Pro579Ser) c.1679+4939C>T (n.1679+4939C>T) c.1831C>T (p.Pro611Ser) c.1897C>T (p.Pro633Ser) c.1894C>T (p.Pro632Ser) c.1867C>T (p.Pro623Ser) c.1786C>T (p.Pro596Ser) c.1771C>T (p.Pro591Ser) c.1378C>T (p.Pro460Ser) c.1840C>T (p.Pro614Ser) c.1774C>T (p.Pro592Ser) c.1732C>T (p.Pro578Ser) c.805C>T (p.Pro269Ser) | |
20 | g.63408511G>C | CA409640420 | KCNQ2 | c.1843C>G (p.Pro615Ala) c.1789C>G (p.Pro597Ala) c.115C>G c.1186C>G (p.Pro396Ala) c.1696C>G (p.Pro566Ala) c.1357C>G (p.Pro453Ala) c.1705C>G (p.Pro569Ala) c.1813C>G (p.Pro605Ala) c.1777C>G (p.Pro593Ala) c.1735C>G (p.Pro579Ala) c.1679+4939C>G (n.1679+4939C>G) c.1831C>G (p.Pro611Ala) c.1897C>G (p.Pro633Ala) c.1894C>G (p.Pro632Ala) c.1867C>G (p.Pro623Ala) c.1786C>G (p.Pro596Ala) c.1771C>G (p.Pro591Ala) c.1378C>G (p.Pro460Ala) c.1840C>G (p.Pro614Ala) c.1774C>G (p.Pro592Ala) c.1732C>G (p.Pro578Ala) c.805C>G (p.Pro269Ala) | ClinVar |
20 | g.63408511G>T | CA409640421 | KCNQ2 | c.1843C>A (p.Pro615Thr) c.1789C>A (p.Pro597Thr) c.115C>A c.1186C>A (p.Pro396Thr) c.1696C>A (p.Pro566Thr) c.1357C>A (p.Pro453Thr) c.1705C>A (p.Pro569Thr) c.1813C>A (p.Pro605Thr) c.1777C>A (p.Pro593Thr) c.1735C>A (p.Pro579Thr) c.1679+4939C>A (n.1679+4939C>A) c.1831C>A (p.Pro611Thr) c.1897C>A (p.Pro633Thr) c.1894C>A (p.Pro632Thr) c.1867C>A (p.Pro623Thr) c.1786C>A (p.Pro596Thr) c.1771C>A (p.Pro591Thr) c.1378C>A (p.Pro460Thr) c.1840C>A (p.Pro614Thr) c.1774C>A (p.Pro592Thr) c.1732C>A (p.Pro578Thr) c.805C>A (p.Pro269Thr) | COSMIC COSMIC COSMIC |
20 | g.63408512G>A | CA511203585 | KCNQ2 | c.1842C>T (p.Gly614=) c.1788C>T (p.Gly596=) c.114C>T c.1185C>T (p.Gly395=) c.1695C>T (p.Gly565=) c.1356C>T (p.Gly452=) c.1704C>T (p.Gly568=) c.1812C>T (p.Gly604=) c.1776C>T (p.Gly592=) c.1734C>T (p.Gly578=) c.1679+4938C>T (n.1679+4938C>T) c.1830C>T (p.Gly610=) c.1896C>T (p.Gly632=) c.1893C>T (p.Gly631=) c.1866C>T (p.Gly622=) c.1785C>T (p.Gly595=) c.1770C>T (p.Gly590=) c.1377C>T (p.Gly459=) c.1839C>T (p.Gly613=) c.1773C>T (p.Gly591=) c.1731C>T (p.Gly577=) c.804C>T (p.Gly268=) | |
20 | g.63408512G>C | CA511203587 | KCNQ2 | c.1842C>G (p.Gly614=) c.1788C>G (p.Gly596=) c.114C>G c.1185C>G (p.Gly395=) c.1695C>G (p.Gly565=) c.1356C>G (p.Gly452=) c.1704C>G (p.Gly568=) c.1812C>G (p.Gly604=) c.1776C>G (p.Gly592=) c.1734C>G (p.Gly578=) c.1679+4938C>G (n.1679+4938C>G) c.1830C>G (p.Gly610=) c.1896C>G (p.Gly632=) c.1893C>G (p.Gly631=) c.1866C>G (p.Gly622=) c.1785C>G (p.Gly595=) c.1770C>G (p.Gly590=) c.1377C>G (p.Gly459=) c.1839C>G (p.Gly613=) c.1773C>G (p.Gly591=) c.1731C>G (p.Gly577=) c.804C>G (p.Gly268=) | |
20 | g.63408512G>T | CA511203586 | KCNQ2 | c.1842C>A (p.Gly614=) c.1788C>A (p.Gly596=) c.114C>A c.1185C>A (p.Gly395=) c.1695C>A (p.Gly565=) c.1356C>A (p.Gly452=) c.1704C>A (p.Gly568=) c.1812C>A (p.Gly604=) c.1776C>A (p.Gly592=) c.1734C>A (p.Gly578=) c.1679+4938C>A (n.1679+4938C>A) c.1830C>A (p.Gly610=) c.1896C>A (p.Gly632=) c.1893C>A (p.Gly631=) c.1866C>A (p.Gly622=) c.1785C>A (p.Gly595=) c.1770C>A (p.Gly590=) c.1377C>A (p.Gly459=) c.1839C>A (p.Gly613=) c.1773C>A (p.Gly591=) c.1731C>A (p.Gly577=) c.804C>A (p.Gly268=) | gnomAD v4 |
20 | g.63408513C>A | CA409640422 | KCNQ2 | c.1841G>T (p.Gly614Val) c.1787G>T (p.Gly596Val) c.113G>T c.1184G>T (p.Gly395Val) c.1694G>T (p.Gly565Val) c.1355G>T (p.Gly452Val) c.1703G>T (p.Gly568Val) c.1811G>T (p.Gly604Val) c.1775G>T (p.Gly592Val) c.1733G>T (p.Gly578Val) c.1679+4937G>T (n.1679+4937G>T) c.1829G>T (p.Gly610Val) c.1895G>T (p.Gly632Val) c.1892G>T (p.Gly631Val) c.1865G>T (p.Gly622Val) c.1784G>T (p.Gly595Val) c.1769G>T (p.Gly590Val) c.1376G>T (p.Gly459Val) c.1838G>T (p.Gly613Val) c.1772G>T (p.Gly591Val) c.1730G>T (p.Gly577Val) c.803G>T (p.Gly268Val) | |
20 | g.63408513C>G | CA409640424 | KCNQ2 | c.1841G>C (p.Gly614Ala) c.1787G>C (p.Gly596Ala) c.113G>C c.1184G>C (p.Gly395Ala) c.1694G>C (p.Gly565Ala) c.1355G>C (p.Gly452Ala) c.1703G>C (p.Gly568Ala) c.1811G>C (p.Gly604Ala) c.1775G>C (p.Gly592Ala) c.1733G>C (p.Gly578Ala) c.1679+4937G>C (n.1679+4937G>C) c.1829G>C (p.Gly610Ala) c.1895G>C (p.Gly632Ala) c.1892G>C (p.Gly631Ala) c.1865G>C (p.Gly622Ala) c.1784G>C (p.Gly595Ala) c.1769G>C (p.Gly590Ala) c.1376G>C (p.Gly459Ala) c.1838G>C (p.Gly613Ala) c.1772G>C (p.Gly591Ala) c.1730G>C (p.Gly577Ala) c.803G>C (p.Gly268Ala) | ClinVar dbSNP |
20 | g.63408513C>T | CA409640425 | KCNQ2 | c.1841G>A (p.Gly614Asp) c.1787G>A (p.Gly596Asp) c.113G>A c.1184G>A (p.Gly395Asp) c.1694G>A (p.Gly565Asp) c.1355G>A (p.Gly452Asp) c.1703G>A (p.Gly568Asp) c.1811G>A (p.Gly604Asp) c.1775G>A (p.Gly592Asp) c.1733G>A (p.Gly578Asp) c.1679+4937G>A (n.1679+4937G>A) c.1829G>A (p.Gly610Asp) c.1895G>A (p.Gly632Asp) c.1892G>A (p.Gly631Asp) c.1865G>A (p.Gly622Asp) c.1784G>A (p.Gly595Asp) c.1769G>A (p.Gly590Asp) c.1376G>A (p.Gly459Asp) c.1838G>A (p.Gly613Asp) c.1772G>A (p.Gly591Asp) c.1730G>A (p.Gly577Asp) c.803G>A (p.Gly268Asp) | |
20 | g.63408514C>A | CA409640426 | KCNQ2 | c.1840G>T (p.Gly614Cys) c.1786G>T (p.Gly596Cys) c.112G>T c.1183G>T (p.Gly395Cys) c.1693G>T (p.Gly565Cys) c.1354G>T (p.Gly452Cys) c.1702G>T (p.Gly568Cys) c.1810G>T (p.Gly604Cys) c.1774G>T (p.Gly592Cys) c.1732G>T (p.Gly578Cys) c.1679+4936G>T (n.1679+4936G>T) c.1828G>T (p.Gly610Cys) c.1894G>T (p.Gly632Cys) c.1891G>T (p.Gly631Cys) c.1864G>T (p.Gly622Cys) c.1783G>T (p.Gly595Cys) c.1768G>T (p.Gly590Cys) c.1375G>T (p.Gly459Cys) c.1837G>T (p.Gly613Cys) c.1771G>T (p.Gly591Cys) c.1729G>T (p.Gly577Cys) c.802G>T (p.Gly268Cys) | |
20 | g.63408514C>G | CA409640427 | KCNQ2 | c.1840G>C (p.Gly614Arg) c.1786G>C (p.Gly596Arg) c.112G>C c.1183G>C (p.Gly395Arg) c.1693G>C (p.Gly565Arg) c.1354G>C (p.Gly452Arg) c.1702G>C (p.Gly568Arg) c.1810G>C (p.Gly604Arg) c.1774G>C (p.Gly592Arg) c.1732G>C (p.Gly578Arg) c.1679+4936G>C (n.1679+4936G>C) c.1828G>C (p.Gly610Arg) c.1894G>C (p.Gly632Arg) c.1891G>C (p.Gly631Arg) c.1864G>C (p.Gly622Arg) c.1783G>C (p.Gly595Arg) c.1768G>C (p.Gly590Arg) c.1375G>C (p.Gly459Arg) c.1837G>C (p.Gly613Arg) c.1771G>C (p.Gly591Arg) c.1729G>C (p.Gly577Arg) c.802G>C (p.Gly268Arg) | |
20 | g.63408514C>T | CA409640428 | KCNQ2 | c.1840G>A (p.Gly614Ser) c.1786G>A (p.Gly596Ser) c.112G>A c.1183G>A (p.Gly395Ser) c.1693G>A (p.Gly565Ser) c.1354G>A (p.Gly452Ser) c.1702G>A (p.Gly568Ser) c.1810G>A (p.Gly604Ser) c.1774G>A (p.Gly592Ser) c.1732G>A (p.Gly578Ser) c.1679+4936G>A (n.1679+4936G>A) c.1828G>A (p.Gly610Ser) c.1894G>A (p.Gly632Ser) c.1891G>A (p.Gly631Ser) c.1864G>A (p.Gly622Ser) c.1783G>A (p.Gly595Ser) c.1768G>A (p.Gly590Ser) c.1375G>A (p.Gly459Ser) c.1837G>A (p.Gly613Ser) c.1771G>A (p.Gly591Ser) c.1729G>A (p.Gly577Ser) c.802G>A (p.Gly268Ser) | dbSNP |
20 | g.63408515C>A | CA511203588 | KCNQ2 | c.1839G>T (p.Arg613=) c.1785G>T (p.Arg595=) c.111G>T c.1182G>T (p.Arg394=) c.1692G>T (p.Arg564=) c.1353G>T (p.Arg451=) c.1701G>T (p.Arg567=) c.1809G>T (p.Arg603=) c.1773G>T (p.Arg591=) c.1731G>T (p.Arg577=) c.1679+4935G>T (n.1679+4935G>T) c.1827G>T (p.Arg609=) c.1893G>T (p.Arg631=) c.1890G>T (p.Arg630=) c.1863G>T (p.Arg621=) c.1782G>T (p.Arg594=) c.1767G>T (p.Arg589=) c.1374G>T (p.Arg458=) c.1836G>T (p.Arg612=) c.1770G>T (p.Arg590=) c.1728G>T (p.Arg576=) c.801G>T (p.Arg267=) | |
20 | g.63408515C>G | CA511203589 | KCNQ2 | c.1839G>C (p.Arg613=) c.1785G>C (p.Arg595=) c.111G>C c.1182G>C (p.Arg394=) c.1692G>C (p.Arg564=) c.1353G>C (p.Arg451=) c.1701G>C (p.Arg567=) c.1809G>C (p.Arg603=) c.1773G>C (p.Arg591=) c.1731G>C (p.Arg577=) c.1679+4935G>C (n.1679+4935G>C) c.1827G>C (p.Arg609=) c.1893G>C (p.Arg631=) c.1890G>C (p.Arg630=) c.1863G>C (p.Arg621=) c.1782G>C (p.Arg594=) c.1767G>C (p.Arg589=) c.1374G>C (p.Arg458=) c.1836G>C (p.Arg612=) c.1770G>C (p.Arg590=) c.1728G>C (p.Arg576=) c.801G>C (p.Arg267=) | |
20 | g.63408515C>T | CA511203590 | KCNQ2 | c.1839G>A (p.Arg613=) c.1785G>A (p.Arg595=) c.111G>A c.1182G>A (p.Arg394=) c.1692G>A (p.Arg564=) c.1353G>A (p.Arg451=) c.1701G>A (p.Arg567=) c.1809G>A (p.Arg603=) c.1773G>A (p.Arg591=) c.1731G>A (p.Arg577=) c.1679+4935G>A (n.1679+4935G>A) c.1827G>A (p.Arg609=) c.1893G>A (p.Arg631=) c.1890G>A (p.Arg630=) c.1863G>A (p.Arg621=) c.1782G>A (p.Arg594=) c.1767G>A (p.Arg589=) c.1374G>A (p.Arg458=) c.1836G>A (p.Arg612=) c.1770G>A (p.Arg590=) c.1728G>A (p.Arg576=) c.801G>A (p.Arg267=) | |
20 | g.63408516C>A | CA409640433 | KCNQ2 | c.1838G>T (p.Arg613Leu) c.1784G>T (p.Arg595Leu) c.110G>T c.1181G>T (p.Arg394Leu) c.1691G>T (p.Arg564Leu) c.1352G>T (p.Arg451Leu) c.1700G>T (p.Arg567Leu) c.1808G>T (p.Arg603Leu) c.1772G>T (p.Arg591Leu) c.1730G>T (p.Arg577Leu) c.1679+4934G>T (n.1679+4934G>T) c.1826G>T (p.Arg609Leu) c.1892G>T (p.Arg631Leu) c.1889G>T (p.Arg630Leu) c.1862G>T (p.Arg621Leu) c.1781G>T (p.Arg594Leu) c.1766G>T (p.Arg589Leu) c.1373G>T (p.Arg458Leu) c.1835G>T (p.Arg612Leu) c.1769G>T (p.Arg590Leu) c.1727G>T (p.Arg576Leu) c.800G>T (p.Arg267Leu) | gnomAD v4 |
20 | g.63408516C= | CA2374775238 | KCNQ2 | c.1838G= (p.Arg613=) c.1784G= (p.Arg595=) c.110G= c.1181G= (p.Arg394=) c.1691G= (p.Arg564=) c.1352G= (p.Arg451=) c.1700G= (p.Arg567=) c.1808G= (p.Arg603=) c.1772G= (p.Arg591=) c.1730G= (p.Arg577=) c.1679+4934G= (n.1679+4934G=) c.1826G= (p.Arg609=) c.1892G= (p.Arg631=) c.1889G= (p.Arg630=) c.1862G= (p.Arg621=) c.1781G= (p.Arg594=) c.1766G= (p.Arg589=) c.1373G= (p.Arg458=) c.1835G= (p.Arg612=) c.1769G= (p.Arg590=) c.1727G= (p.Arg576=) c.800G= (p.Arg267=) | |
20 | g.63408516C>G | CA409640430 | KCNQ2 | c.1838G>C (p.Arg613Pro) c.1784G>C (p.Arg595Pro) c.110G>C c.1181G>C (p.Arg394Pro) c.1691G>C (p.Arg564Pro) c.1352G>C (p.Arg451Pro) c.1700G>C (p.Arg567Pro) c.1808G>C (p.Arg603Pro) c.1772G>C (p.Arg591Pro) c.1730G>C (p.Arg577Pro) c.1679+4934G>C (n.1679+4934G>C) c.1826G>C (p.Arg609Pro) c.1892G>C (p.Arg631Pro) c.1889G>C (p.Arg630Pro) c.1862G>C (p.Arg621Pro) c.1781G>C (p.Arg594Pro) c.1766G>C (p.Arg589Pro) c.1373G>C (p.Arg458Pro) c.1835G>C (p.Arg612Pro) c.1769G>C (p.Arg590Pro) c.1727G>C (p.Arg576Pro) c.800G>C (p.Arg267Pro) | gnomAD v4 COSMIC |
20 | g.63408516C>T | CA409640431 | KCNQ2 | c.1838G>A (p.Arg613Gln) c.1784G>A (p.Arg595Gln) c.110G>A c.1181G>A (p.Arg394Gln) c.1691G>A (p.Arg564Gln) c.1352G>A (p.Arg451Gln) c.1700G>A (p.Arg567Gln) c.1808G>A (p.Arg603Gln) c.1772G>A (p.Arg591Gln) c.1730G>A (p.Arg577Gln) c.1679+4934G>A (n.1679+4934G>A) c.1826G>A (p.Arg609Gln) c.1892G>A (p.Arg631Gln) c.1889G>A (p.Arg630Gln) c.1862G>A (p.Arg621Gln) c.1781G>A (p.Arg594Gln) c.1766G>A (p.Arg589Gln) c.1373G>A (p.Arg458Gln) c.1835G>A (p.Arg612Gln) c.1769G>A (p.Arg590Gln) c.1727G>A (p.Arg576Gln) c.800G>A (p.Arg267Gln) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63408517G>A | CA10654779 | KCNQ2 | c.1837C>T (p.Arg613Trp) c.1783C>T (p.Arg595Trp) c.109C>T c.1180C>T (p.Arg394Trp) c.1690C>T (p.Arg564Trp) c.1351C>T (p.Arg451Trp) c.1699C>T (p.Arg567Trp) c.1807C>T (p.Arg603Trp) c.1771C>T (p.Arg591Trp) c.1729C>T (p.Arg577Trp) c.1679+4933C>T (n.1679+4933C>T) c.1825C>T (p.Arg609Trp) c.1891C>T (p.Arg631Trp) c.1888C>T (p.Arg630Trp) c.1861C>T (p.Arg621Trp) c.1780C>T (p.Arg594Trp) c.1765C>T (p.Arg589Trp) c.1372C>T (p.Arg458Trp) c.1834C>T (p.Arg612Trp) c.1768C>T (p.Arg590Trp) c.1726C>T (p.Arg576Trp) c.799C>T (p.Arg267Trp) | ClinVar dbSNP |
20 | g.63408517G>C | CA409640435 | KCNQ2 | c.1837C>G (p.Arg613Gly) c.1783C>G (p.Arg595Gly) c.109C>G c.1180C>G (p.Arg394Gly) c.1690C>G (p.Arg564Gly) c.1351C>G (p.Arg451Gly) c.1699C>G (p.Arg567Gly) c.1807C>G (p.Arg603Gly) c.1771C>G (p.Arg591Gly) c.1729C>G (p.Arg577Gly) c.1679+4933C>G (n.1679+4933C>G) c.1825C>G (p.Arg609Gly) c.1891C>G (p.Arg631Gly) c.1888C>G (p.Arg630Gly) c.1861C>G (p.Arg621Gly) c.1780C>G (p.Arg594Gly) c.1765C>G (p.Arg589Gly) c.1372C>G (p.Arg458Gly) c.1834C>G (p.Arg612Gly) c.1768C>G (p.Arg590Gly) c.1726C>G (p.Arg576Gly) c.799C>G (p.Arg267Gly) | |
20 | g.63408517G= | CA2374775239 | KCNQ2 | c.1837C= (p.Arg613=) c.1783C= (p.Arg595=) c.109C= c.1180C= (p.Arg394=) c.1690C= (p.Arg564=) c.1351C= (p.Arg451=) c.1699C= (p.Arg567=) c.1807C= (p.Arg603=) c.1771C= (p.Arg591=) c.1729C= (p.Arg577=) c.1679+4933C= (n.1679+4933C=) c.1825C= (p.Arg609=) c.1891C= (p.Arg631=) c.1888C= (p.Arg630=) c.1861C= (p.Arg621=) c.1780C= (p.Arg594=) c.1765C= (p.Arg589=) c.1372C= (p.Arg458=) c.1834C= (p.Arg612=) c.1768C= (p.Arg590=) c.1726C= (p.Arg576=) c.799C= (p.Arg267=) | |
20 | g.63408517G>T | CA511203591 | KCNQ2 | c.1837C>A (p.Arg613=) c.1783C>A (p.Arg595=) c.109C>A c.1180C>A (p.Arg394=) c.1690C>A (p.Arg564=) c.1351C>A (p.Arg451=) c.1699C>A (p.Arg567=) c.1807C>A (p.Arg603=) c.1771C>A (p.Arg591=) c.1729C>A (p.Arg577=) c.1679+4933C>A (n.1679+4933C>A) c.1825C>A (p.Arg609=) c.1891C>A (p.Arg631=) c.1888C>A (p.Arg630=) c.1861C>A (p.Arg621=) c.1780C>A (p.Arg594=) c.1765C>A (p.Arg589=) c.1372C>A (p.Arg458=) c.1834C>A (p.Arg612=) c.1768C>A (p.Arg590=) c.1726C>A (p.Arg576=) c.799C>A (p.Arg267=) | gnomAD v4 |
20 | g.63408518C>A | CA511203592 | KCNQ2 | c.1836G>T (p.Gly612=) c.1782G>T (p.Gly594=) c.108G>T c.1179G>T (p.Gly393=) c.1689G>T (p.Gly563=) c.1350G>T (p.Gly450=) c.1698G>T (p.Gly566=) c.1806G>T (p.Gly602=) c.1770G>T (p.Gly590=) c.1728G>T (p.Gly576=) c.1679+4932G>T (n.1679+4932G>T) c.1824G>T (p.Gly608=) c.1890G>T (p.Gly630=) c.1887G>T (p.Gly629=) c.1860G>T (p.Gly620=) c.1779G>T (p.Gly593=) c.1764G>T (p.Gly588=) c.1371G>T (p.Gly457=) c.1833G>T (p.Gly611=) c.1767G>T (p.Gly589=) c.1725G>T (p.Gly575=) c.798G>T (p.Gly266=) | |
20 | g.63408518C>G | CA511203593 | KCNQ2 | c.1836G>C (p.Gly612=) c.1782G>C (p.Gly594=) c.108G>C c.1179G>C (p.Gly393=) c.1689G>C (p.Gly563=) c.1350G>C (p.Gly450=) c.1698G>C (p.Gly566=) c.1806G>C (p.Gly602=) c.1770G>C (p.Gly590=) c.1728G>C (p.Gly576=) c.1679+4932G>C (n.1679+4932G>C) c.1824G>C (p.Gly608=) c.1890G>C (p.Gly630=) c.1887G>C (p.Gly629=) c.1860G>C (p.Gly620=) c.1779G>C (p.Gly593=) c.1764G>C (p.Gly588=) c.1371G>C (p.Gly457=) c.1833G>C (p.Gly611=) c.1767G>C (p.Gly589=) c.1725G>C (p.Gly575=) c.798G>C (p.Gly266=) | |
20 | g.63408518C>T | CA511203594 | KCNQ2 | c.1836G>A (p.Gly612=) c.1782G>A (p.Gly594=) c.108G>A c.1179G>A (p.Gly393=) c.1689G>A (p.Gly563=) c.1350G>A (p.Gly450=) c.1698G>A (p.Gly566=) c.1806G>A (p.Gly602=) c.1770G>A (p.Gly590=) c.1728G>A (p.Gly576=) c.1679+4932G>A (n.1679+4932G>A) c.1824G>A (p.Gly608=) c.1890G>A (p.Gly630=) c.1887G>A (p.Gly629=) c.1860G>A (p.Gly620=) c.1779G>A (p.Gly593=) c.1764G>A (p.Gly588=) c.1371G>A (p.Gly457=) c.1833G>A (p.Gly611=) c.1767G>A (p.Gly589=) c.1725G>A (p.Gly575=) c.798G>A (p.Gly266=) | ClinVar gnomAD v4 |
20 | g.63408519C>A | CA409640436 | KCNQ2 | c.1835G>T (p.Gly612Val) c.1781G>T (p.Gly594Val) c.107G>T c.1178G>T (p.Gly393Val) c.1688G>T (p.Gly563Val) c.1349G>T (p.Gly450Val) c.1697G>T (p.Gly566Val) c.1805G>T (p.Gly602Val) c.1769G>T (p.Gly590Val) c.1727G>T (p.Gly576Val) c.1679+4931G>T (n.1679+4931G>T) c.1823G>T (p.Gly608Val) c.1889G>T (p.Gly630Val) c.1886G>T (p.Gly629Val) c.1859G>T (p.Gly620Val) c.1778G>T (p.Gly593Val) c.1763G>T (p.Gly588Val) c.1370G>T (p.Gly457Val) c.1832G>T (p.Gly611Val) c.1766G>T (p.Gly589Val) c.1724G>T (p.Gly575Val) c.797G>T (p.Gly266Val) | |
20 | g.63408519C>G | CA409640438 | KCNQ2 | c.1835G>C (p.Gly612Ala) c.1781G>C (p.Gly594Ala) c.107G>C c.1178G>C (p.Gly393Ala) c.1688G>C (p.Gly563Ala) c.1349G>C (p.Gly450Ala) c.1697G>C (p.Gly566Ala) c.1805G>C (p.Gly602Ala) c.1769G>C (p.Gly590Ala) c.1727G>C (p.Gly576Ala) c.1679+4931G>C (n.1679+4931G>C) c.1823G>C (p.Gly608Ala) c.1889G>C (p.Gly630Ala) c.1886G>C (p.Gly629Ala) c.1859G>C (p.Gly620Ala) c.1778G>C (p.Gly593Ala) c.1763G>C (p.Gly588Ala) c.1370G>C (p.Gly457Ala) c.1832G>C (p.Gly611Ala) c.1766G>C (p.Gly589Ala) c.1724G>C (p.Gly575Ala) c.797G>C (p.Gly266Ala) | |
20 | g.63408519C>T | CA409640440 | KCNQ2 | c.1835G>A (p.Gly612Glu) c.1781G>A (p.Gly594Glu) c.107G>A c.1178G>A (p.Gly393Glu) c.1688G>A (p.Gly563Glu) c.1349G>A (p.Gly450Glu) c.1697G>A (p.Gly566Glu) c.1805G>A (p.Gly602Glu) c.1769G>A (p.Gly590Glu) c.1727G>A (p.Gly576Glu) c.1679+4931G>A (n.1679+4931G>A) c.1823G>A (p.Gly608Glu) c.1889G>A (p.Gly630Glu) c.1886G>A (p.Gly629Glu) c.1859G>A (p.Gly620Glu) c.1778G>A (p.Gly593Glu) c.1763G>A (p.Gly588Glu) c.1370G>A (p.Gly457Glu) c.1832G>A (p.Gly611Glu) c.1766G>A (p.Gly589Glu) c.1724G>A (p.Gly575Glu) c.797G>A (p.Gly266Glu) | |
20 | g.63408520C>A | CA409640442 | KCNQ2 | c.1834G>T (p.Gly612Trp) c.1780G>T (p.Gly594Trp) c.106G>T c.1177G>T (p.Gly393Trp) c.1687G>T (p.Gly563Trp) c.1348G>T (p.Gly450Trp) c.1696G>T (p.Gly566Trp) c.1804G>T (p.Gly602Trp) c.1768G>T (p.Gly590Trp) c.1726G>T (p.Gly576Trp) c.1679+4930G>T (n.1679+4930G>T) c.1822G>T (p.Gly608Trp) c.1888G>T (p.Gly630Trp) c.1885G>T (p.Gly629Trp) c.1858G>T (p.Gly620Trp) c.1777G>T (p.Gly593Trp) c.1762G>T (p.Gly588Trp) c.1369G>T (p.Gly457Trp) c.1831G>T (p.Gly611Trp) c.1765G>T (p.Gly589Trp) c.1723G>T (p.Gly575Trp) c.796G>T (p.Gly266Trp) | gnomAD v4 |
20 | g.63408520C>G | CA409640443 | KCNQ2 | c.1834G>C (p.Gly612Arg) c.1780G>C (p.Gly594Arg) c.106G>C c.1177G>C (p.Gly393Arg) c.1687G>C (p.Gly563Arg) c.1348G>C (p.Gly450Arg) c.1696G>C (p.Gly566Arg) c.1804G>C (p.Gly602Arg) c.1768G>C (p.Gly590Arg) c.1726G>C (p.Gly576Arg) c.1679+4930G>C (n.1679+4930G>C) c.1822G>C (p.Gly608Arg) c.1888G>C (p.Gly630Arg) c.1885G>C (p.Gly629Arg) c.1858G>C (p.Gly620Arg) c.1777G>C (p.Gly593Arg) c.1762G>C (p.Gly588Arg) c.1369G>C (p.Gly457Arg) c.1831G>C (p.Gly611Arg) c.1765G>C (p.Gly589Arg) c.1723G>C (p.Gly575Arg) c.796G>C (p.Gly266Arg) | |
20 | g.63408520C>T | CA409640444 | KCNQ2 | c.1834G>A (p.Gly612Arg) c.1780G>A (p.Gly594Arg) c.106G>A c.1177G>A (p.Gly393Arg) c.1687G>A (p.Gly563Arg) c.1348G>A (p.Gly450Arg) c.1696G>A (p.Gly566Arg) c.1804G>A (p.Gly602Arg) c.1768G>A (p.Gly590Arg) c.1726G>A (p.Gly576Arg) c.1679+4930G>A (n.1679+4930G>A) c.1822G>A (p.Gly608Arg) c.1888G>A (p.Gly630Arg) c.1885G>A (p.Gly629Arg) c.1858G>A (p.Gly620Arg) c.1777G>A (p.Gly593Arg) c.1762G>A (p.Gly588Arg) c.1369G>A (p.Gly457Arg) c.1831G>A (p.Gly611Arg) c.1765G>A (p.Gly589Arg) c.1723G>A (p.Gly575Arg) c.796G>A (p.Gly266Arg) | |
20 | g.63408521C>A | CA511203597 | KCNQ2 | c.1833G>T (p.Val611=) c.1779G>T (p.Val593=) c.105G>T c.1176G>T (p.Val392=) c.1686G>T (p.Val562=) c.1347G>T (p.Val449=) c.1695G>T (p.Val565=) c.1803G>T (p.Val601=) c.1767G>T (p.Val589=) c.1725G>T (p.Val575=) c.1679+4929G>T (n.1679+4929G>T) c.1821G>T (p.Val607=) c.1887G>T (p.Val629=) c.1884G>T (p.Val628=) c.1857G>T (p.Val619=) c.1776G>T (p.Val592=) c.1761G>T (p.Val587=) c.1368G>T (p.Val456=) c.1830G>T (p.Val610=) c.1764G>T (p.Val588=) c.1722G>T (p.Val574=) c.795G>T (p.Val265=) | |
20 | g.63408521C>G | CA511203595 | KCNQ2 | c.1833G>C (p.Val611=) c.1779G>C (p.Val593=) c.105G>C c.1176G>C (p.Val392=) c.1686G>C (p.Val562=) c.1347G>C (p.Val449=) c.1695G>C (p.Val565=) c.1803G>C (p.Val601=) c.1767G>C (p.Val589=) c.1725G>C (p.Val575=) c.1679+4929G>C (n.1679+4929G>C) c.1821G>C (p.Val607=) c.1887G>C (p.Val629=) c.1884G>C (p.Val628=) c.1857G>C (p.Val619=) c.1776G>C (p.Val592=) c.1761G>C (p.Val587=) c.1368G>C (p.Val456=) c.1830G>C (p.Val610=) c.1764G>C (p.Val588=) c.1722G>C (p.Val574=) c.795G>C (p.Val265=) | |
20 | g.63408521C>T | CA511203596 | KCNQ2 | c.1833G>A (p.Val611=) c.1779G>A (p.Val593=) c.105G>A c.1176G>A (p.Val392=) c.1686G>A (p.Val562=) c.1347G>A (p.Val449=) c.1695G>A (p.Val565=) c.1803G>A (p.Val601=) c.1767G>A (p.Val589=) c.1725G>A (p.Val575=) c.1679+4929G>A (n.1679+4929G>A) c.1821G>A (p.Val607=) c.1887G>A (p.Val629=) c.1884G>A (p.Val628=) c.1857G>A (p.Val619=) c.1776G>A (p.Val592=) c.1761G>A (p.Val587=) c.1368G>A (p.Val456=) c.1830G>A (p.Val610=) c.1764G>A (p.Val588=) c.1722G>A (p.Val574=) c.795G>A (p.Val265=) | |
20 | g.63408522A>C | CA409640446 | KCNQ2 | c.1832T>G (p.Val611Gly) c.1778T>G (p.Val593Gly) c.104T>G c.1175T>G (p.Val392Gly) c.1685T>G (p.Val562Gly) c.1346T>G (p.Val449Gly) c.1694T>G (p.Val565Gly) c.1802T>G (p.Val601Gly) c.1766T>G (p.Val589Gly) c.1724T>G (p.Val575Gly) c.1679+4928T>G (n.1679+4928T>G) c.1820T>G (p.Val607Gly) c.1886T>G (p.Val629Gly) c.1883T>G (p.Val628Gly) c.1856T>G (p.Val619Gly) c.1775T>G (p.Val592Gly) c.1760T>G (p.Val587Gly) c.1367T>G (p.Val456Gly) c.1829T>G (p.Val610Gly) c.1763T>G (p.Val588Gly) c.1721T>G (p.Val574Gly) c.794T>G (p.Val265Gly) | |
20 | g.63408522A>G | CA409640448 | KCNQ2 | c.1832T>C (p.Val611Ala) c.1778T>C (p.Val593Ala) c.104T>C c.1175T>C (p.Val392Ala) c.1685T>C (p.Val562Ala) c.1346T>C (p.Val449Ala) c.1694T>C (p.Val565Ala) c.1802T>C (p.Val601Ala) c.1766T>C (p.Val589Ala) c.1724T>C (p.Val575Ala) c.1679+4928T>C (n.1679+4928T>C) c.1820T>C (p.Val607Ala) c.1886T>C (p.Val629Ala) c.1883T>C (p.Val628Ala) c.1856T>C (p.Val619Ala) c.1775T>C (p.Val592Ala) c.1760T>C (p.Val587Ala) c.1367T>C (p.Val456Ala) c.1829T>C (p.Val610Ala) c.1763T>C (p.Val588Ala) c.1721T>C (p.Val574Ala) c.794T>C (p.Val265Ala) | |
20 | g.63408522A>T | CA409640449 | KCNQ2 | c.1832T>A (p.Val611Glu) c.1778T>A (p.Val593Glu) c.104T>A c.1175T>A (p.Val392Glu) c.1685T>A (p.Val562Glu) c.1346T>A (p.Val449Glu) c.1694T>A (p.Val565Glu) c.1802T>A (p.Val601Glu) c.1766T>A (p.Val589Glu) c.1724T>A (p.Val575Glu) c.1679+4928T>A (n.1679+4928T>A) c.1820T>A (p.Val607Glu) c.1886T>A (p.Val629Glu) c.1883T>A (p.Val628Glu) c.1856T>A (p.Val619Glu) c.1775T>A (p.Val592Glu) c.1760T>A (p.Val587Glu) c.1367T>A (p.Val456Glu) c.1829T>A (p.Val610Glu) c.1763T>A (p.Val588Glu) c.1721T>A (p.Val574Glu) c.794T>A (p.Val265Glu) | |
20 | g.63408523C>A | CA409640453 | KCNQ2 | c.1831G>T (p.Val611Leu) c.1777G>T (p.Val593Leu) c.103G>T c.1174G>T (p.Val392Leu) c.1684G>T (p.Val562Leu) c.1345G>T (p.Val449Leu) c.1693G>T (p.Val565Leu) c.1801G>T (p.Val601Leu) c.1765G>T (p.Val589Leu) c.1723G>T (p.Val575Leu) c.1679+4927G>T (n.1679+4927G>T) c.1819G>T (p.Val607Leu) c.1885G>T (p.Val629Leu) c.1882G>T (p.Val628Leu) c.1855G>T (p.Val619Leu) c.1774G>T (p.Val592Leu) c.1759G>T (p.Val587Leu) c.1366G>T (p.Val456Leu) c.1828G>T (p.Val610Leu) c.1762G>T (p.Val588Leu) c.1720G>T (p.Val574Leu) c.793G>T (p.Val265Leu) | gnomAD v4 COSMIC |
20 | g.63408523C= | CA2374775240 | KCNQ2 | c.1831G= (p.Val611=) c.1777G= (p.Val593=) c.103G= c.1174G= (p.Val392=) c.1684G= (p.Val562=) c.1345G= (p.Val449=) c.1693G= (p.Val565=) c.1801G= (p.Val601=) c.1765G= (p.Val589=) c.1723G= (p.Val575=) c.1679+4927G= (n.1679+4927G=) c.1819G= (p.Val607=) c.1885G= (p.Val629=) c.1882G= (p.Val628=) c.1855G= (p.Val619=) c.1774G= (p.Val592=) c.1759G= (p.Val587=) c.1366G= (p.Val456=) c.1828G= (p.Val610=) c.1762G= (p.Val588=) c.1720G= (p.Val574=) c.793G= (p.Val265=) | |
20 | g.63408523C>G | CA409640451 | KCNQ2 | c.1831G>C (p.Val611Leu) c.1777G>C (p.Val593Leu) c.103G>C c.1174G>C (p.Val392Leu) c.1684G>C (p.Val562Leu) c.1345G>C (p.Val449Leu) c.1693G>C (p.Val565Leu) c.1801G>C (p.Val601Leu) c.1765G>C (p.Val589Leu) c.1723G>C (p.Val575Leu) c.1679+4927G>C (n.1679+4927G>C) c.1819G>C (p.Val607Leu) c.1885G>C (p.Val629Leu) c.1882G>C (p.Val628Leu) c.1855G>C (p.Val619Leu) c.1774G>C (p.Val592Leu) c.1759G>C (p.Val587Leu) c.1366G>C (p.Val456Leu) c.1828G>C (p.Val610Leu) c.1762G>C (p.Val588Leu) c.1720G>C (p.Val574Leu) c.793G>C (p.Val265Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63408523C>T | CA9958244 | KCNQ2 | c.1831G>A (p.Val611Met) c.1777G>A (p.Val593Met) c.103G>A c.1174G>A (p.Val392Met) c.1684G>A (p.Val562Met) c.1345G>A (p.Val449Met) c.1693G>A (p.Val565Met) c.1801G>A (p.Val601Met) c.1765G>A (p.Val589Met) c.1723G>A (p.Val575Met) c.1679+4927G>A (n.1679+4927G>A) c.1819G>A (p.Val607Met) c.1885G>A (p.Val629Met) c.1882G>A (p.Val628Met) c.1855G>A (p.Val619Met) c.1774G>A (p.Val592Met) c.1759G>A (p.Val587Met) c.1366G>A (p.Val456Met) c.1828G>A (p.Val610Met) c.1762G>A (p.Val588Met) c.1720G>A (p.Val574Met) c.793G>A (p.Val265Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63408524G>A | CA9958245 | KCNQ2 | c.1830C>T (p.Ile610=) c.1776C>T (p.Ile592=) c.102C>T c.1173C>T (p.Ile391=) c.1683C>T (p.Ile561=) c.1344C>T (p.Ile448=) c.1692C>T (p.Ile564=) c.1800C>T (p.Ile600=) c.1764C>T (p.Ile588=) c.1722C>T (p.Ile574=) c.1679+4926C>T (n.1679+4926C>T) c.1818C>T (p.Ile606=) c.1884C>T (p.Ile628=) c.1881C>T (p.Ile627=) c.1854C>T (p.Ile618=) c.1773C>T (p.Ile591=) c.1758C>T (p.Ile586=) c.1365C>T (p.Ile455=) c.1827C>T (p.Ile609=) c.1761C>T (p.Ile587=) c.1719C>T (p.Ile573=) c.792C>T (p.Ile264=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63408524G>C | CA10654780 | KCNQ2 | c.1830C>G (p.Ile610Met) c.1776C>G (p.Ile592Met) c.102C>G c.1173C>G (p.Ile391Met) c.1683C>G (p.Ile561Met) c.1344C>G (p.Ile448Met) c.1692C>G (p.Ile564Met) c.1800C>G (p.Ile600Met) c.1764C>G (p.Ile588Met) c.1722C>G (p.Ile574Met) c.1679+4926C>G (n.1679+4926C>G) c.1818C>G (p.Ile606Met) c.1884C>G (p.Ile628Met) c.1881C>G (p.Ile627Met) c.1854C>G (p.Ile618Met) c.1773C>G (p.Ile591Met) c.1758C>G (p.Ile586Met) c.1365C>G (p.Ile455Met) c.1827C>G (p.Ile609Met) c.1761C>G (p.Ile587Met) c.1719C>G (p.Ile573Met) c.792C>G (p.Ile264Met) | ClinVar dbSNP |
20 | g.63408524G= | CA2374775241 | KCNQ2 | c.1830C= (p.Ile610=) c.1776C= (p.Ile592=) c.102C= c.1173C= (p.Ile391=) c.1683C= (p.Ile561=) c.1344C= (p.Ile448=) c.1692C= (p.Ile564=) c.1800C= (p.Ile600=) c.1764C= (p.Ile588=) c.1722C= (p.Ile574=) c.1679+4926C= (n.1679+4926C=) c.1818C= (p.Ile606=) c.1884C= (p.Ile628=) c.1881C= (p.Ile627=) c.1854C= (p.Ile618=) c.1773C= (p.Ile591=) c.1758C= (p.Ile586=) c.1365C= (p.Ile455=) c.1827C= (p.Ile609=) c.1761C= (p.Ile587=) c.1719C= (p.Ile573=) c.792C= (p.Ile264=) | |
20 | g.63408524G>T | CA511203598 | KCNQ2 | c.1830C>A (p.Ile610=) c.1776C>A (p.Ile592=) c.102C>A c.1173C>A (p.Ile391=) c.1683C>A (p.Ile561=) c.1344C>A (p.Ile448=) c.1692C>A (p.Ile564=) c.1800C>A (p.Ile600=) c.1764C>A (p.Ile588=) c.1722C>A (p.Ile574=) c.1679+4926C>A (n.1679+4926C>A) c.1818C>A (p.Ile606=) c.1884C>A (p.Ile628=) c.1881C>A (p.Ile627=) c.1854C>A (p.Ile618=) c.1773C>A (p.Ile591=) c.1758C>A (p.Ile586=) c.1365C>A (p.Ile455=) c.1827C>A (p.Ile609=) c.1761C>A (p.Ile587=) c.1719C>A (p.Ile573=) c.792C>A (p.Ile264=) | COSMIC COSMIC COSMIC |
20 | g.63408525A>C | CA409640459 | KCNQ2 | c.1829T>G (p.Ile610Ser) c.1775T>G (p.Ile592Ser) c.101T>G c.1172T>G (p.Ile391Ser) c.1682T>G (p.Ile561Ser) c.1343T>G (p.Ile448Ser) c.1691T>G (p.Ile564Ser) c.1799T>G (p.Ile600Ser) c.1763T>G (p.Ile588Ser) c.1721T>G (p.Ile574Ser) c.1679+4925T>G (n.1679+4925T>G) c.1817T>G (p.Ile606Ser) c.1883T>G (p.Ile628Ser) c.1880T>G (p.Ile627Ser) c.1853T>G (p.Ile618Ser) c.1772T>G (p.Ile591Ser) c.1757T>G (p.Ile586Ser) c.1364T>G (p.Ile455Ser) c.1826T>G (p.Ile609Ser) c.1760T>G (p.Ile587Ser) c.1718T>G (p.Ile573Ser) c.791T>G (p.Ile264Ser) | |
20 | g.63408525A>G | CA409640461 | KCNQ2 | c.1829T>C (p.Ile610Thr) c.1775T>C (p.Ile592Thr) c.101T>C c.1172T>C (p.Ile391Thr) c.1682T>C (p.Ile561Thr) c.1343T>C (p.Ile448Thr) c.1691T>C (p.Ile564Thr) c.1799T>C (p.Ile600Thr) c.1763T>C (p.Ile588Thr) c.1721T>C (p.Ile574Thr) c.1679+4925T>C (n.1679+4925T>C) c.1817T>C (p.Ile606Thr) c.1883T>C (p.Ile628Thr) c.1880T>C (p.Ile627Thr) c.1853T>C (p.Ile618Thr) c.1772T>C (p.Ile591Thr) c.1757T>C (p.Ile586Thr) c.1364T>C (p.Ile455Thr) c.1826T>C (p.Ile609Thr) c.1760T>C (p.Ile587Thr) c.1718T>C (p.Ile573Thr) c.791T>C (p.Ile264Thr) | |
20 | g.63408525A>T | CA409640463 | KCNQ2 | c.1829T>A (p.Ile610Asn) c.1775T>A (p.Ile592Asn) c.101T>A c.1172T>A (p.Ile391Asn) c.1682T>A (p.Ile561Asn) c.1343T>A (p.Ile448Asn) c.1691T>A (p.Ile564Asn) c.1799T>A (p.Ile600Asn) c.1763T>A (p.Ile588Asn) c.1721T>A (p.Ile574Asn) c.1679+4925T>A (n.1679+4925T>A) c.1817T>A (p.Ile606Asn) c.1883T>A (p.Ile628Asn) c.1880T>A (p.Ile627Asn) c.1853T>A (p.Ile618Asn) c.1772T>A (p.Ile591Asn) c.1757T>A (p.Ile586Asn) c.1364T>A (p.Ile455Asn) c.1826T>A (p.Ile609Asn) c.1760T>A (p.Ile587Asn) c.1718T>A (p.Ile573Asn) c.791T>A (p.Ile264Asn) | |
20 | g.63408526T>A | CA409640466 | KCNQ2 | c.1828A>T (p.Ile610Phe) c.1774A>T (p.Ile592Phe) c.100A>T c.1171A>T (p.Ile391Phe) c.1681A>T (p.Ile561Phe) c.1342A>T (p.Ile448Phe) c.1690A>T (p.Ile564Phe) c.1798A>T (p.Ile600Phe) c.1762A>T (p.Ile588Phe) c.1720A>T (p.Ile574Phe) c.1679+4924A>T (n.1679+4924A>T) c.1816A>T (p.Ile606Phe) c.1882A>T (p.Ile628Phe) c.1879A>T (p.Ile627Phe) c.1852A>T (p.Ile618Phe) c.1771A>T (p.Ile591Phe) c.1756A>T (p.Ile586Phe) c.1363A>T (p.Ile455Phe) c.1825A>T (p.Ile609Phe) c.1759A>T (p.Ile587Phe) c.1717A>T (p.Ile573Phe) c.790A>T (p.Ile264Phe) | |
20 | g.63408526T>C | CA409640468 | KCNQ2 | c.1828A>G (p.Ile610Val) c.1774A>G (p.Ile592Val) c.100A>G c.1171A>G (p.Ile391Val) c.1681A>G (p.Ile561Val) c.1342A>G (p.Ile448Val) c.1690A>G (p.Ile564Val) c.1798A>G (p.Ile600Val) c.1762A>G (p.Ile588Val) c.1720A>G (p.Ile574Val) c.1679+4924A>G (n.1679+4924A>G) c.1816A>G (p.Ile606Val) c.1882A>G (p.Ile628Val) c.1879A>G (p.Ile627Val) c.1852A>G (p.Ile618Val) c.1771A>G (p.Ile591Val) c.1756A>G (p.Ile586Val) c.1363A>G (p.Ile455Val) c.1825A>G (p.Ile609Val) c.1759A>G (p.Ile587Val) c.1717A>G (p.Ile573Val) c.790A>G (p.Ile264Val) | |
20 | g.63408526T>G | CA409640469 | KCNQ2 | c.1828A>C (p.Ile610Leu) c.1774A>C (p.Ile592Leu) c.100A>C c.1171A>C (p.Ile391Leu) c.1681A>C (p.Ile561Leu) c.1342A>C (p.Ile448Leu) c.1690A>C (p.Ile564Leu) c.1798A>C (p.Ile600Leu) c.1762A>C (p.Ile588Leu) c.1720A>C (p.Ile574Leu) c.1679+4924A>C (n.1679+4924A>C) c.1816A>C (p.Ile606Leu) c.1882A>C (p.Ile628Leu) c.1879A>C (p.Ile627Leu) c.1852A>C (p.Ile618Leu) c.1771A>C (p.Ile591Leu) c.1756A>C (p.Ile586Leu) c.1363A>C (p.Ile455Leu) c.1825A>C (p.Ile609Leu) c.1759A>C (p.Ile587Leu) c.1717A>C (p.Ile573Leu) c.790A>C (p.Ile264Leu) | gnomAD v4 |
20 | g.63408527C>A | CA409640470 | KCNQ2 | c.1827G>T (p.Gln609His) c.1773G>T (p.Gln591His) c.99G>T c.1170G>T (p.Gln390His) c.1680G>T (p.Gln560His) c.1341G>T (p.Gln447His) c.1689G>T (p.Gln563His) c.1797G>T (p.Gln599His) c.1761G>T (p.Gln587His) c.1719G>T (p.Gln573His) c.1679+4923G>T (n.1679+4923G>T) c.1815G>T (p.Gln605His) c.1881G>T (p.Gln627His) c.1878G>T (p.Gln626His) c.1851G>T (p.Gln617His) c.1770G>T (p.Gln590His) c.1755G>T (p.Gln585His) c.1362G>T (p.Gln454His) c.1824G>T (p.Gln608His) c.1758G>T (p.Gln586His) c.1716G>T (p.Gln572His) c.789G>T (p.Gln263His) | |
20 | g.63408527C>G | CA409640471 | KCNQ2 | c.1827G>C (p.Gln609His) c.1773G>C (p.Gln591His) c.99G>C c.1170G>C (p.Gln390His) c.1680G>C (p.Gln560His) c.1341G>C (p.Gln447His) c.1689G>C (p.Gln563His) c.1797G>C (p.Gln599His) c.1761G>C (p.Gln587His) c.1719G>C (p.Gln573His) c.1679+4923G>C (n.1679+4923G>C) c.1815G>C (p.Gln605His) c.1881G>C (p.Gln627His) c.1878G>C (p.Gln626His) c.1851G>C (p.Gln617His) c.1770G>C (p.Gln590His) c.1755G>C (p.Gln585His) c.1362G>C (p.Gln454His) c.1824G>C (p.Gln608His) c.1758G>C (p.Gln586His) c.1716G>C (p.Gln572His) c.789G>C (p.Gln263His) | |
20 | g.63408527C>T | CA511203599 | KCNQ2 | c.1827G>A (p.Gln609=) c.1773G>A (p.Gln591=) c.99G>A c.1170G>A (p.Gln390=) c.1680G>A (p.Gln560=) c.1341G>A (p.Gln447=) c.1689G>A (p.Gln563=) c.1797G>A (p.Gln599=) c.1761G>A (p.Gln587=) c.1719G>A (p.Gln573=) c.1679+4923G>A (n.1679+4923G>A) c.1815G>A (p.Gln605=) c.1881G>A (p.Gln627=) c.1878G>A (p.Gln626=) c.1851G>A (p.Gln617=) c.1770G>A (p.Gln590=) c.1755G>A (p.Gln585=) c.1362G>A (p.Gln454=) c.1824G>A (p.Gln608=) c.1758G>A (p.Gln586=) c.1716G>A (p.Gln572=) c.789G>A (p.Gln263=) | |
20 | g.63408528T>A | CA409640472 | KCNQ2 | c.1826A>T (p.Gln609Leu) c.1772A>T (p.Gln591Leu) c.98A>T c.1169A>T (p.Gln390Leu) c.1679A>T (p.Gln560Leu) c.1340A>T (p.Gln447Leu) c.1688A>T (p.Gln563Leu) c.1796A>T (p.Gln599Leu) c.1760A>T (p.Gln587Leu) c.1718A>T (p.Gln573Leu) c.1679+4922A>T (n.1679+4922A>T) c.1814A>T (p.Gln605Leu) c.1880A>T (p.Gln627Leu) c.1877A>T (p.Gln626Leu) c.1850A>T (p.Gln617Leu) c.1769A>T (p.Gln590Leu) c.1754A>T (p.Gln585Leu) c.1361A>T (p.Gln454Leu) c.1823A>T (p.Gln608Leu) c.1757A>T (p.Gln586Leu) c.1715A>T (p.Gln572Leu) c.788A>T (p.Gln263Leu) | gnomAD v4 |
20 | g.63408528T>C | CA409640473 | KCNQ2 | c.1826A>G (p.Gln609Arg) c.1772A>G (p.Gln591Arg) c.98A>G c.1169A>G (p.Gln390Arg) c.1679A>G (p.Gln560Arg) c.1340A>G (p.Gln447Arg) c.1688A>G (p.Gln563Arg) c.1796A>G (p.Gln599Arg) c.1760A>G (p.Gln587Arg) c.1718A>G (p.Gln573Arg) c.1679+4922A>G (n.1679+4922A>G) c.1814A>G (p.Gln605Arg) c.1880A>G (p.Gln627Arg) c.1877A>G (p.Gln626Arg) c.1850A>G (p.Gln617Arg) c.1769A>G (p.Gln590Arg) c.1754A>G (p.Gln585Arg) c.1361A>G (p.Gln454Arg) c.1823A>G (p.Gln608Arg) c.1757A>G (p.Gln586Arg) c.1715A>G (p.Gln572Arg) c.788A>G (p.Gln263Arg) | |
20 | g.63408528T>G | CA409640475 | KCNQ2 | c.1826A>C (p.Gln609Pro) c.1772A>C (p.Gln591Pro) c.98A>C c.1169A>C (p.Gln390Pro) c.1679A>C (p.Gln560Pro) c.1340A>C (p.Gln447Pro) c.1688A>C (p.Gln563Pro) c.1796A>C (p.Gln599Pro) c.1760A>C (p.Gln587Pro) c.1718A>C (p.Gln573Pro) c.1679+4922A>C (n.1679+4922A>C) c.1814A>C (p.Gln605Pro) c.1880A>C (p.Gln627Pro) c.1877A>C (p.Gln626Pro) c.1850A>C (p.Gln617Pro) c.1769A>C (p.Gln590Pro) c.1754A>C (p.Gln585Pro) c.1361A>C (p.Gln454Pro) c.1823A>C (p.Gln608Pro) c.1757A>C (p.Gln586Pro) c.1715A>C (p.Gln572Pro) c.788A>C (p.Gln263Pro) | |
20 | g.63408529G>A | CA409640478 | KCNQ2 | c.1825C>T (p.Gln609Ter) c.1771C>T (p.Gln591Ter) c.97C>T c.1168C>T (p.Gln390Ter) c.1678C>T (p.Gln560Ter) c.1339C>T (p.Gln447Ter) c.1687C>T (p.Gln563Ter) c.1795C>T (p.Gln599Ter) c.1759C>T (p.Gln587Ter) c.1717C>T (p.Gln573Ter) c.1679+4921C>T (n.1679+4921C>T) c.1813C>T (p.Gln605Ter) c.1879C>T (p.Gln627Ter) c.1876C>T (p.Gln626Ter) c.1849C>T (p.Gln617Ter) c.1768C>T (p.Gln590Ter) c.1753C>T (p.Gln585Ter) c.1360C>T (p.Gln454Ter) c.1822C>T (p.Gln608Ter) c.1756C>T (p.Gln586Ter) c.1714C>T (p.Gln572Ter) c.787C>T (p.Gln263Ter) | ClinVar |
20 | g.63408529G>C | CA409640480 | KCNQ2 | c.1825C>G (p.Gln609Glu) c.1771C>G (p.Gln591Glu) c.97C>G c.1168C>G (p.Gln390Glu) c.1678C>G (p.Gln560Glu) c.1339C>G (p.Gln447Glu) c.1687C>G (p.Gln563Glu) c.1795C>G (p.Gln599Glu) c.1759C>G (p.Gln587Glu) c.1717C>G (p.Gln573Glu) c.1679+4921C>G (n.1679+4921C>G) c.1813C>G (p.Gln605Glu) c.1879C>G (p.Gln627Glu) c.1876C>G (p.Gln626Glu) c.1849C>G (p.Gln617Glu) c.1768C>G (p.Gln590Glu) c.1753C>G (p.Gln585Glu) c.1360C>G (p.Gln454Glu) c.1822C>G (p.Gln608Glu) c.1756C>G (p.Gln586Glu) c.1714C>G (p.Gln572Glu) c.787C>G (p.Gln263Glu) | |
20 | g.63408529G>T | CA409640483 | KCNQ2 | c.1825C>A (p.Gln609Lys) c.1771C>A (p.Gln591Lys) c.97C>A c.1168C>A (p.Gln390Lys) c.1678C>A (p.Gln560Lys) c.1339C>A (p.Gln447Lys) c.1687C>A (p.Gln563Lys) c.1795C>A (p.Gln599Lys) c.1759C>A (p.Gln587Lys) c.1717C>A (p.Gln573Lys) c.1679+4921C>A (n.1679+4921C>A) c.1813C>A (p.Gln605Lys) c.1879C>A (p.Gln627Lys) c.1876C>A (p.Gln626Lys) c.1849C>A (p.Gln617Lys) c.1768C>A (p.Gln590Lys) c.1753C>A (p.Gln585Lys) c.1360C>A (p.Gln454Lys) c.1822C>A (p.Gln608Lys) c.1756C>A (p.Gln586Lys) c.1714C>A (p.Gln572Lys) c.787C>A (p.Gln263Lys) | gnomAD v4 |
20 | g.63408530G>A | CA511203600 | KCNQ2 | c.1824C>T (p.Asp608=) c.1770C>T (p.Asp590=) c.96C>T c.1167C>T (p.Asp389=) c.1677C>T (p.Asp559=) c.1338C>T (p.Asp446=) c.1686C>T (p.Asp562=) c.1794C>T (p.Asp598=) c.1758C>T (p.Asp586=) c.1716C>T (p.Asp572=) c.1679+4920C>T (n.1679+4920C>T) c.1812C>T (p.Asp604=) c.1878C>T (p.Asp626=) c.1875C>T (p.Asp625=) c.1848C>T (p.Asp616=) c.1767C>T (p.Asp589=) c.1752C>T (p.Asp584=) c.1359C>T (p.Asp453=) c.1821C>T (p.Asp607=) c.1755C>T (p.Asp585=) c.1713C>T (p.Asp571=) c.786C>T (p.Asp262=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63408530G>C | CA409640486 | KCNQ2 | c.1824C>G (p.Asp608Glu) c.1770C>G (p.Asp590Glu) c.96C>G c.1167C>G (p.Asp389Glu) c.1677C>G (p.Asp559Glu) c.1338C>G (p.Asp446Glu) c.1686C>G (p.Asp562Glu) c.1794C>G (p.Asp598Glu) c.1758C>G (p.Asp586Glu) c.1716C>G (p.Asp572Glu) c.1679+4920C>G (n.1679+4920C>G) c.1812C>G (p.Asp604Glu) c.1878C>G (p.Asp626Glu) c.1875C>G (p.Asp625Glu) c.1848C>G (p.Asp616Glu) c.1767C>G (p.Asp589Glu) c.1752C>G (p.Asp584Glu) c.1359C>G (p.Asp453Glu) c.1821C>G (p.Asp607Glu) c.1755C>G (p.Asp585Glu) c.1713C>G (p.Asp571Glu) c.786C>G (p.Asp262Glu) | |
20 | g.63408530G= | CA2374775242 | KCNQ2 | c.1824C= (p.Asp608=) c.1770C= (p.Asp590=) c.96C= c.1167C= (p.Asp389=) c.1677C= (p.Asp559=) c.1338C= (p.Asp446=) c.1686C= (p.Asp562=) c.1794C= (p.Asp598=) c.1758C= (p.Asp586=) c.1716C= (p.Asp572=) c.1679+4920C= (n.1679+4920C=) c.1812C= (p.Asp604=) c.1878C= (p.Asp626=) c.1875C= (p.Asp625=) c.1848C= (p.Asp616=) c.1767C= (p.Asp589=) c.1752C= (p.Asp584=) c.1359C= (p.Asp453=) c.1821C= (p.Asp607=) c.1755C= (p.Asp585=) c.1713C= (p.Asp571=) c.786C= (p.Asp262=) | |
20 | g.63408530G>T | CA409640488 | KCNQ2 | c.1824C>A (p.Asp608Glu) c.1770C>A (p.Asp590Glu) c.96C>A c.1167C>A (p.Asp389Glu) c.1677C>A (p.Asp559Glu) c.1338C>A (p.Asp446Glu) c.1686C>A (p.Asp562Glu) c.1794C>A (p.Asp598Glu) c.1758C>A (p.Asp586Glu) c.1716C>A (p.Asp572Glu) c.1679+4920C>A (n.1679+4920C>A) c.1812C>A (p.Asp604Glu) c.1878C>A (p.Asp626Glu) c.1875C>A (p.Asp625Glu) c.1848C>A (p.Asp616Glu) c.1767C>A (p.Asp589Glu) c.1752C>A (p.Asp584Glu) c.1359C>A (p.Asp453Glu) c.1821C>A (p.Asp607Glu) c.1755C>A (p.Asp585Glu) c.1713C>A (p.Asp571Glu) c.786C>A (p.Asp262Glu) | |
20 | g.63408531T>A | CA409640491 | KCNQ2 | c.1823A>T (p.Asp608Val) c.1769A>T (p.Asp590Val) c.95A>T c.1166A>T (p.Asp389Val) c.1676A>T (p.Asp559Val) c.1337A>T (p.Asp446Val) c.1685A>T (p.Asp562Val) c.1793A>T (p.Asp598Val) c.1757A>T (p.Asp586Val) c.1715A>T (p.Asp572Val) c.1679+4919A>T (n.1679+4919A>T) c.1811A>T (p.Asp604Val) c.1877A>T (p.Asp626Val) c.1874A>T (p.Asp625Val) c.1847A>T (p.Asp616Val) c.1766A>T (p.Asp589Val) c.1751A>T (p.Asp584Val) c.1358A>T (p.Asp453Val) c.1820A>T (p.Asp607Val) c.1754A>T (p.Asp585Val) c.1712A>T (p.Asp571Val) c.785A>T (p.Asp262Val) | |
20 | g.63408531T>C | CA409640493 | KCNQ2 | c.1823A>G (p.Asp608Gly) c.1769A>G (p.Asp590Gly) c.95A>G c.1166A>G (p.Asp389Gly) c.1676A>G (p.Asp559Gly) c.1337A>G (p.Asp446Gly) c.1685A>G (p.Asp562Gly) c.1793A>G (p.Asp598Gly) c.1757A>G (p.Asp586Gly) c.1715A>G (p.Asp572Gly) c.1679+4919A>G (n.1679+4919A>G) c.1811A>G (p.Asp604Gly) c.1877A>G (p.Asp626Gly) c.1874A>G (p.Asp625Gly) c.1847A>G (p.Asp616Gly) c.1766A>G (p.Asp589Gly) c.1751A>G (p.Asp584Gly) c.1358A>G (p.Asp453Gly) c.1820A>G (p.Asp607Gly) c.1754A>G (p.Asp585Gly) c.1712A>G (p.Asp571Gly) c.785A>G (p.Asp262Gly) | |
20 | g.63408531T>G | CA409640496 | KCNQ2 | c.1823A>C (p.Asp608Ala) c.1769A>C (p.Asp590Ala) c.95A>C c.1166A>C (p.Asp389Ala) c.1676A>C (p.Asp559Ala) c.1337A>C (p.Asp446Ala) c.1685A>C (p.Asp562Ala) c.1793A>C (p.Asp598Ala) c.1757A>C (p.Asp586Ala) c.1715A>C (p.Asp572Ala) c.1679+4919A>C (n.1679+4919A>C) c.1811A>C (p.Asp604Ala) c.1877A>C (p.Asp626Ala) c.1874A>C (p.Asp625Ala) c.1847A>C (p.Asp616Ala) c.1766A>C (p.Asp589Ala) c.1751A>C (p.Asp584Ala) c.1358A>C (p.Asp453Ala) c.1820A>C (p.Asp607Ala) c.1754A>C (p.Asp585Ala) c.1712A>C (p.Asp571Ala) c.785A>C (p.Asp262Ala) | ClinVar dbSNP |
20 | g.63408532C>A | CA409640498 | KCNQ2 | c.1822G>T (p.Asp608Tyr) c.1768G>T (p.Asp590Tyr) c.94G>T c.1165G>T (p.Asp389Tyr) c.1675G>T (p.Asp559Tyr) c.1336G>T (p.Asp446Tyr) c.1684G>T (p.Asp562Tyr) c.1792G>T (p.Asp598Tyr) c.1756G>T (p.Asp586Tyr) c.1714G>T (p.Asp572Tyr) c.1679+4918G>T (n.1679+4918G>T) c.1810G>T (p.Asp604Tyr) c.1876G>T (p.Asp626Tyr) c.1873G>T (p.Asp625Tyr) c.1846G>T (p.Asp616Tyr) c.1765G>T (p.Asp589Tyr) c.1750G>T (p.Asp584Tyr) c.1357G>T (p.Asp453Tyr) c.1819G>T (p.Asp607Tyr) c.1753G>T (p.Asp585Tyr) c.1711G>T (p.Asp571Tyr) c.784G>T (p.Asp262Tyr) | gnomAD v4 |
20 | g.63408532C>G | CA409640502 | KCNQ2 | c.1822G>C (p.Asp608His) c.1768G>C (p.Asp590His) c.94G>C c.1165G>C (p.Asp389His) c.1675G>C (p.Asp559His) c.1336G>C (p.Asp446His) c.1684G>C (p.Asp562His) c.1792G>C (p.Asp598His) c.1756G>C (p.Asp586His) c.1714G>C (p.Asp572His) c.1679+4918G>C (n.1679+4918G>C) c.1810G>C (p.Asp604His) c.1876G>C (p.Asp626His) c.1873G>C (p.Asp625His) c.1846G>C (p.Asp616His) c.1765G>C (p.Asp589His) c.1750G>C (p.Asp584His) c.1357G>C (p.Asp453His) c.1819G>C (p.Asp607His) c.1753G>C (p.Asp585His) c.1711G>C (p.Asp571His) c.784G>C (p.Asp262His) | |
20 | g.63408532C>T | CA409640510 | KCNQ2 | c.1822G>A (p.Asp608Asn) c.1768G>A (p.Asp590Asn) c.94G>A c.1165G>A (p.Asp389Asn) c.1675G>A (p.Asp559Asn) c.1336G>A (p.Asp446Asn) c.1684G>A (p.Asp562Asn) c.1792G>A (p.Asp598Asn) c.1756G>A (p.Asp586Asn) c.1714G>A (p.Asp572Asn) c.1679+4918G>A (n.1679+4918G>A) c.1810G>A (p.Asp604Asn) c.1876G>A (p.Asp626Asn) c.1873G>A (p.Asp625Asn) c.1846G>A (p.Asp616Asn) c.1765G>A (p.Asp589Asn) c.1750G>A (p.Asp584Asn) c.1357G>A (p.Asp453Asn) c.1819G>A (p.Asp607Asn) c.1753G>A (p.Asp585Asn) c.1711G>A (p.Asp571Asn) c.784G>A (p.Asp262Asn) | |
20 | g.63408533C>A | CA511203601 | KCNQ2 | c.1821G>T (p.Val607=) c.1767G>T (p.Val589=) c.93G>T c.1164G>T (p.Val388=) c.1674G>T (p.Val558=) c.1335G>T (p.Val445=) c.1683G>T (p.Val561=) c.1791G>T (p.Val597=) c.1755G>T (p.Val585=) c.1713G>T (p.Val571=) c.1679+4917G>T (n.1679+4917G>T) c.1809G>T (p.Val603=) c.1875G>T (p.Val625=) c.1872G>T (p.Val624=) c.1845G>T (p.Val615=) c.1764G>T (p.Val588=) c.1749G>T (p.Val583=) c.1356G>T (p.Val452=) c.1818G>T (p.Val606=) c.1752G>T (p.Val584=) c.1710G>T (p.Val570=) c.783G>T (p.Val261=) | gnomAD v4 |
20 | g.63408533C>G | CA511203602 | KCNQ2 | c.1821G>C (p.Val607=) c.1767G>C (p.Val589=) c.93G>C c.1164G>C (p.Val388=) c.1674G>C (p.Val558=) c.1335G>C (p.Val445=) c.1683G>C (p.Val561=) c.1791G>C (p.Val597=) c.1755G>C (p.Val585=) c.1713G>C (p.Val571=) c.1679+4917G>C (n.1679+4917G>C) c.1809G>C (p.Val603=) c.1875G>C (p.Val625=) c.1872G>C (p.Val624=) c.1845G>C (p.Val615=) c.1764G>C (p.Val588=) c.1749G>C (p.Val583=) c.1356G>C (p.Val452=) c.1818G>C (p.Val606=) c.1752G>C (p.Val584=) c.1710G>C (p.Val570=) c.783G>C (p.Val261=) | |
20 | g.63408533C>T | CA511203603 | KCNQ2 | c.1821G>A (p.Val607=) c.1767G>A (p.Val589=) c.93G>A c.1164G>A (p.Val388=) c.1674G>A (p.Val558=) c.1335G>A (p.Val445=) c.1683G>A (p.Val561=) c.1791G>A (p.Val597=) c.1755G>A (p.Val585=) c.1713G>A (p.Val571=) c.1679+4917G>A (n.1679+4917G>A) c.1809G>A (p.Val603=) c.1875G>A (p.Val625=) c.1872G>A (p.Val624=) c.1845G>A (p.Val615=) c.1764G>A (p.Val588=) c.1749G>A (p.Val583=) c.1356G>A (p.Val452=) c.1818G>A (p.Val606=) c.1752G>A (p.Val584=) c.1710G>A (p.Val570=) c.783G>A (p.Val261=) | |
20 | g.63408534A>C | CA409640512 | KCNQ2 | c.1820T>G (p.Val607Gly) c.1766T>G (p.Val589Gly) c.92T>G c.1163T>G (p.Val388Gly) c.1673T>G (p.Val558Gly) c.1334T>G (p.Val445Gly) c.1682T>G (p.Val561Gly) c.1790T>G (p.Val597Gly) c.1754T>G (p.Val585Gly) c.1712T>G (p.Val571Gly) c.1679+4916T>G (n.1679+4916T>G) c.1808T>G (p.Val603Gly) c.1874T>G (p.Val625Gly) c.1871T>G (p.Val624Gly) c.1844T>G (p.Val615Gly) c.1763T>G (p.Val588Gly) c.1748T>G (p.Val583Gly) c.1355T>G (p.Val452Gly) c.1817T>G (p.Val606Gly) c.1751T>G (p.Val584Gly) c.1709T>G (p.Val570Gly) c.782T>G (p.Val261Gly) | |
20 | g.63408534A>G | CA409640516 | KCNQ2 | c.1820T>C (p.Val607Ala) c.1766T>C (p.Val589Ala) c.92T>C c.1163T>C (p.Val388Ala) c.1673T>C (p.Val558Ala) c.1334T>C (p.Val445Ala) c.1682T>C (p.Val561Ala) c.1790T>C (p.Val597Ala) c.1754T>C (p.Val585Ala) c.1712T>C (p.Val571Ala) c.1679+4916T>C (n.1679+4916T>C) c.1808T>C (p.Val603Ala) c.1874T>C (p.Val625Ala) c.1871T>C (p.Val624Ala) c.1844T>C (p.Val615Ala) c.1763T>C (p.Val588Ala) c.1748T>C (p.Val583Ala) c.1355T>C (p.Val452Ala) c.1817T>C (p.Val606Ala) c.1751T>C (p.Val584Ala) c.1709T>C (p.Val570Ala) c.782T>C (p.Val261Ala) | |
20 | g.63408534A>T | CA409640519 | KCNQ2 | c.1820T>A (p.Val607Glu) c.1766T>A (p.Val589Glu) c.92T>A c.1163T>A (p.Val388Glu) c.1673T>A (p.Val558Glu) c.1334T>A (p.Val445Glu) c.1682T>A (p.Val561Glu) c.1790T>A (p.Val597Glu) c.1754T>A (p.Val585Glu) c.1712T>A (p.Val571Glu) c.1679+4916T>A (n.1679+4916T>A) c.1808T>A (p.Val603Glu) c.1874T>A (p.Val625Glu) c.1871T>A (p.Val624Glu) c.1844T>A (p.Val615Glu) c.1763T>A (p.Val588Glu) c.1748T>A (p.Val583Glu) c.1355T>A (p.Val452Glu) c.1817T>A (p.Val606Glu) c.1751T>A (p.Val584Glu) c.1709T>A (p.Val570Glu) c.782T>A (p.Val261Glu) | |
20 | g.63408535C>A | CA409640521 | KCNQ2 | c.1819G>T (p.Val607Leu) c.1765G>T (p.Val589Leu) c.91G>T c.1162G>T (p.Val388Leu) c.1672G>T (p.Val558Leu) c.1333G>T (p.Val445Leu) c.1681G>T (p.Val561Leu) c.1789G>T (p.Val597Leu) c.1753G>T (p.Val585Leu) c.1711G>T (p.Val571Leu) c.1679+4915G>T (n.1679+4915G>T) c.1807G>T (p.Val603Leu) c.1873G>T (p.Val625Leu) c.1870G>T (p.Val624Leu) c.1843G>T (p.Val615Leu) c.1762G>T (p.Val588Leu) c.1747G>T (p.Val583Leu) c.1354G>T (p.Val452Leu) c.1816G>T (p.Val606Leu) c.1750G>T (p.Val584Leu) c.1708G>T (p.Val570Leu) c.781G>T (p.Val261Leu) | |
20 | g.63408535C>G | CA409640525 | KCNQ2 | c.1819G>C (p.Val607Leu) c.1765G>C (p.Val589Leu) c.91G>C c.1162G>C (p.Val388Leu) c.1672G>C (p.Val558Leu) c.1333G>C (p.Val445Leu) c.1681G>C (p.Val561Leu) c.1789G>C (p.Val597Leu) c.1753G>C (p.Val585Leu) c.1711G>C (p.Val571Leu) c.1679+4915G>C (n.1679+4915G>C) c.1807G>C (p.Val603Leu) c.1873G>C (p.Val625Leu) c.1870G>C (p.Val624Leu) c.1843G>C (p.Val615Leu) c.1762G>C (p.Val588Leu) c.1747G>C (p.Val583Leu) c.1354G>C (p.Val452Leu) c.1816G>C (p.Val606Leu) c.1750G>C (p.Val584Leu) c.1708G>C (p.Val570Leu) c.781G>C (p.Val261Leu) | |
20 | g.63408535C>T | CA409640530 | KCNQ2 | c.1819G>A (p.Val607Met) c.1765G>A (p.Val589Met) c.91G>A c.1162G>A (p.Val388Met) c.1672G>A (p.Val558Met) c.1333G>A (p.Val445Met) c.1681G>A (p.Val561Met) c.1789G>A (p.Val597Met) c.1753G>A (p.Val585Met) c.1711G>A (p.Val571Met) c.1679+4915G>A (n.1679+4915G>A) c.1807G>A (p.Val603Met) c.1873G>A (p.Val625Met) c.1870G>A (p.Val624Met) c.1843G>A (p.Val615Met) c.1762G>A (p.Val588Met) c.1747G>A (p.Val583Met) c.1354G>A (p.Val452Met) c.1816G>A (p.Val606Met) c.1750G>A (p.Val584Met) c.1708G>A (p.Val570Met) c.781G>A (p.Val261Met) | |
20 | g.63408536T>A | CA342475 | KCNQ2 | c.1818A>T (p.Arg606Ser) c.1764A>T (p.Arg588Ser) c.90A>T c.1161A>T (p.Arg387Ser) c.1671A>T (p.Arg557Ser) c.1332A>T (p.Arg444Ser) c.1680A>T (p.Arg560Ser) c.1788A>T (p.Arg596Ser) c.1752A>T (p.Arg584Ser) c.1710A>T (p.Arg570Ser) c.1679+4914A>T (n.1679+4914A>T) c.1806A>T (p.Gly602=) c.1872A>T (p.Arg624Ser) c.1869A>T (p.Arg623Ser) c.1842A>T (p.Arg614Ser) c.1761A>T (p.Arg587Ser) c.1746A>T (p.Arg582Ser) c.1353A>T (p.Arg451Ser) c.1815A>T (p.Arg605Ser) c.1752A>T (p.Gly584=) c.1749A>T (p.Arg583Ser) c.1707A>T (p.Arg569Ser) c.780A>T (p.Arg260Ser) | ClinVar dbSNP |
20 | g.63408536T>C | CA511203604 | KCNQ2 | c.1818A>G (p.Arg606=) c.1764A>G (p.Arg588=) c.90A>G c.1161A>G (p.Arg387=) c.1671A>G (p.Arg557=) c.1332A>G (p.Arg444=) c.1680A>G (p.Arg560=) c.1788A>G (p.Arg596=) c.1752A>G (p.Arg584=) c.1710A>G (p.Arg570=) c.1679+4914A>G (n.1679+4914A>G) c.1806A>G (p.Gly602=) c.1872A>G (p.Arg624=) c.1869A>G (p.Arg623=) c.1842A>G (p.Arg614=) c.1761A>G (p.Arg587=) c.1746A>G (p.Arg582=) c.1353A>G (p.Arg451=) c.1815A>G (p.Arg605=) c.1752A>G (p.Gly584=) c.1749A>G (p.Arg583=) c.1707A>G (p.Arg569=) c.780A>G (p.Arg260=) | |
20 | g.63408536T>G | CA409640538 | KCNQ2 | c.1818A>C (p.Arg606Ser) c.1764A>C (p.Arg588Ser) c.90A>C c.1161A>C (p.Arg387Ser) c.1671A>C (p.Arg557Ser) c.1332A>C (p.Arg444Ser) c.1680A>C (p.Arg560Ser) c.1788A>C (p.Arg596Ser) c.1752A>C (p.Arg584Ser) c.1710A>C (p.Arg570Ser) c.1679+4914A>C (n.1679+4914A>C) c.1806A>C (p.Gly602=) c.1872A>C (p.Arg624Ser) c.1869A>C (p.Arg623Ser) c.1842A>C (p.Arg614Ser) c.1761A>C (p.Arg587Ser) c.1746A>C (p.Arg582Ser) c.1353A>C (p.Arg451Ser) c.1815A>C (p.Arg605Ser) c.1752A>C (p.Gly584=) c.1749A>C (p.Arg583Ser) c.1707A>C (p.Arg569Ser) c.780A>C (p.Arg260Ser) | |
20 | g.63408536T= | CA2374775243 | KCNQ2 | c.1818A= (p.Arg606=) c.1764A= (p.Arg588=) c.90A= c.1161A= (p.Arg387=) c.1671A= (p.Arg557=) c.1332A= (p.Arg444=) c.1680A= (p.Arg560=) c.1788A= (p.Arg596=) c.1752A= (p.Arg584=) c.1710A= (p.Arg570=) c.1679+4914A= (n.1679+4914A=) c.1806A= (p.Gly602=) c.1872A= (p.Arg624=) c.1869A= (p.Arg623=) c.1842A= (p.Arg614=) c.1761A= (p.Arg587=) c.1746A= (p.Arg582=) c.1353A= (p.Arg451=) c.1815A= (p.Arg605=) c.1752A= (p.Gly584=) c.1749A= (p.Arg583=) c.1707A= (p.Arg569=) c.780A= (p.Arg260=) | |
20 | g.63408537C>A | CA409640545 | KCNQ2 | c.1818-1G>T (n.1818-1G>T) c.1764-1G>T (n.1764-1G>T) c.90-1G>T c.1161-1G>T (n.1161-1G>T) c.1671-1G>T (n.1671-1G>T) c.1332-1G>T (n.1332-1G>T) c.1680-1G>T (n.1680-1G>T) c.1788-1G>T (n.1788-1G>T) c.1752-1G>T (n.1752-1G>T) c.1710-1G>T (n.1710-1G>T) c.1679+4913G>T (n.1679+4913G>T) c.1806-1G>T (n.1806-1G>T) c.1872-1G>T (n.1872-1G>T) c.1869-1G>T (n.1869-1G>T) c.1842-1G>T (n.1842-1G>T) c.1761-1G>T (n.1761-1G>T) c.1746-1G>T (n.1746-1G>T) c.1353-1G>T (n.1353-1G>T) c.1815-1G>T (n.1815-1G>T) c.1749-1G>T (n.1749-1G>T) c.1707-1G>T (n.1707-1G>T) c.780-1G>T (n.780-1G>T) | gnomAD v4 |
20 | g.63408537C= | CA2374775244 | KCNQ2 | c.1818-1G= (n.1818-1G=) c.1764-1G= (n.1764-1G=) c.90-1G= c.1161-1G= (n.1161-1G=) c.1671-1G= (n.1671-1G=) c.1332-1G= (n.1332-1G=) c.1680-1G= (n.1680-1G=) c.1788-1G= (n.1788-1G=) c.1752-1G= (n.1752-1G=) c.1710-1G= (n.1710-1G=) c.1679+4913G= (n.1679+4913G=) c.1806-1G= (n.1806-1G=) c.1872-1G= (n.1872-1G=) c.1869-1G= (n.1869-1G=) c.1842-1G= (n.1842-1G=) c.1761-1G= (n.1761-1G=) c.1746-1G= (n.1746-1G=) c.1353-1G= (n.1353-1G=) c.1815-1G= (n.1815-1G=) c.1749-1G= (n.1749-1G=) c.1707-1G= (n.1707-1G=) c.780-1G= (n.780-1G=) | |
20 | g.63408537C>G | CA315457 | KCNQ2 | c.1818-1G>C (n.1818-1G>C) c.1764-1G>C (n.1764-1G>C) c.90-1G>C c.1161-1G>C (n.1161-1G>C) c.1671-1G>C (n.1671-1G>C) c.1332-1G>C (n.1332-1G>C) c.1680-1G>C (n.1680-1G>C) c.1788-1G>C (n.1788-1G>C) c.1752-1G>C (n.1752-1G>C) c.1710-1G>C (n.1710-1G>C) c.1679+4913G>C (n.1679+4913G>C) c.1806-1G>C (n.1806-1G>C) c.1872-1G>C (n.1872-1G>C) c.1869-1G>C (n.1869-1G>C) c.1842-1G>C (n.1842-1G>C) c.1761-1G>C (n.1761-1G>C) c.1746-1G>C (n.1746-1G>C) c.1353-1G>C (n.1353-1G>C) c.1815-1G>C (n.1815-1G>C) c.1749-1G>C (n.1749-1G>C) c.1707-1G>C (n.1707-1G>C) c.780-1G>C (n.780-1G>C) | ClinVar dbSNP |
20 | g.63408537C>T | CA409640549 | KCNQ2 | c.1818-1G>A (n.1818-1G>A) c.1764-1G>A (n.1764-1G>A) c.90-1G>A c.1161-1G>A (n.1161-1G>A) c.1671-1G>A (n.1671-1G>A) c.1332-1G>A (n.1332-1G>A) c.1680-1G>A (n.1680-1G>A) c.1788-1G>A (n.1788-1G>A) c.1752-1G>A (n.1752-1G>A) c.1710-1G>A (n.1710-1G>A) c.1679+4913G>A (n.1679+4913G>A) c.1806-1G>A (n.1806-1G>A) c.1872-1G>A (n.1872-1G>A) c.1869-1G>A (n.1869-1G>A) c.1842-1G>A (n.1842-1G>A) c.1761-1G>A (n.1761-1G>A) c.1746-1G>A (n.1746-1G>A) c.1353-1G>A (n.1353-1G>A) c.1815-1G>A (n.1815-1G>A) c.1749-1G>A (n.1749-1G>A) c.1707-1G>A (n.1707-1G>A) c.780-1G>A (n.780-1G>A) | ClinVar |
20 | g.63408538T>A | CA409640552 | KCNQ2 | c.1818-2A>T (n.1818-2A>T) c.1764-2A>T (n.1764-2A>T) c.90-2A>T c.1161-2A>T (n.1161-2A>T) c.1671-2A>T (n.1671-2A>T) c.1332-2A>T (n.1332-2A>T) c.1680-2A>T (n.1680-2A>T) c.1788-2A>T (n.1788-2A>T) c.1752-2A>T (n.1752-2A>T) c.1710-2A>T (n.1710-2A>T) c.1679+4912A>T (n.1679+4912A>T) c.1806-2A>T (n.1806-2A>T) c.1872-2A>T (n.1872-2A>T) c.1869-2A>T (n.1869-2A>T) c.1842-2A>T (n.1842-2A>T) c.1761-2A>T (n.1761-2A>T) c.1746-2A>T (n.1746-2A>T) c.1353-2A>T (n.1353-2A>T) c.1815-2A>T (n.1815-2A>T) c.1749-2A>T (n.1749-2A>T) c.1707-2A>T (n.1707-2A>T) c.780-2A>T (n.780-2A>T) | |
20 | g.63408538T>C | CA342546 | KCNQ2 | c.1818-2A>G (n.1818-2A>G) c.1764-2A>G (n.1764-2A>G) c.90-2A>G c.1161-2A>G (n.1161-2A>G) c.1671-2A>G (n.1671-2A>G) c.1332-2A>G (n.1332-2A>G) c.1680-2A>G (n.1680-2A>G) c.1788-2A>G (n.1788-2A>G) c.1752-2A>G (n.1752-2A>G) c.1710-2A>G (n.1710-2A>G) c.1679+4912A>G (n.1679+4912A>G) c.1806-2A>G (n.1806-2A>G) c.1872-2A>G (n.1872-2A>G) c.1869-2A>G (n.1869-2A>G) c.1842-2A>G (n.1842-2A>G) c.1761-2A>G (n.1761-2A>G) c.1746-2A>G (n.1746-2A>G) c.1353-2A>G (n.1353-2A>G) c.1815-2A>G (n.1815-2A>G) c.1749-2A>G (n.1749-2A>G) c.1707-2A>G (n.1707-2A>G) c.780-2A>G (n.780-2A>G) | ClinVar dbSNP |
20 | g.63408538T>G | CA409640558 | KCNQ2 | c.1818-2A>C (n.1818-2A>C) c.1764-2A>C (n.1764-2A>C) c.90-2A>C c.1161-2A>C (n.1161-2A>C) c.1671-2A>C (n.1671-2A>C) c.1332-2A>C (n.1332-2A>C) c.1680-2A>C (n.1680-2A>C) c.1788-2A>C (n.1788-2A>C) c.1752-2A>C (n.1752-2A>C) c.1710-2A>C (n.1710-2A>C) c.1679+4912A>C (n.1679+4912A>C) c.1806-2A>C (n.1806-2A>C) c.1872-2A>C (n.1872-2A>C) c.1869-2A>C (n.1869-2A>C) c.1842-2A>C (n.1842-2A>C) c.1761-2A>C (n.1761-2A>C) c.1746-2A>C (n.1746-2A>C) c.1353-2A>C (n.1353-2A>C) c.1815-2A>C (n.1815-2A>C) c.1749-2A>C (n.1749-2A>C) c.1707-2A>C (n.1707-2A>C) c.780-2A>C (n.780-2A>C) | |
20 | g.63408538T= | CA2374775245 | KCNQ2 | c.1818-2A= (n.1818-2A=) c.1764-2A= (n.1764-2A=) c.90-2A= c.1161-2A= (n.1161-2A=) c.1671-2A= (n.1671-2A=) c.1332-2A= (n.1332-2A=) c.1680-2A= (n.1680-2A=) c.1788-2A= (n.1788-2A=) c.1752-2A= (n.1752-2A=) c.1710-2A= (n.1710-2A=) c.1679+4912A= (n.1679+4912A=) c.1806-2A= (n.1806-2A=) c.1872-2A= (n.1872-2A=) c.1869-2A= (n.1869-2A=) c.1842-2A= (n.1842-2A=) c.1761-2A= (n.1761-2A=) c.1746-2A= (n.1746-2A=) c.1353-2A= (n.1353-2A=) c.1815-2A= (n.1815-2A=) c.1749-2A= (n.1749-2A=) c.1707-2A= (n.1707-2A=) c.780-2A= (n.780-2A=) | |
20 | g.63408540C>A | CA2653808608 | KCNQ2 | c.1818-4G>T (n.1818-4G>T) c.1764-4G>T (n.1764-4G>T) c.90-4G>T c.1161-4G>T (n.1161-4G>T) c.1671-4G>T (n.1671-4G>T) c.1332-4G>T (n.1332-4G>T) c.1680-4G>T (n.1680-4G>T) c.1788-4G>T (n.1788-4G>T) c.1752-4G>T (n.1752-4G>T) c.1710-4G>T (n.1710-4G>T) c.1679+4910G>T (n.1679+4910G>T) c.1806-4G>T (n.1806-4G>T) c.1872-4G>T (n.1872-4G>T) c.1869-4G>T (n.1869-4G>T) c.1842-4G>T (n.1842-4G>T) c.1761-4G>T (n.1761-4G>T) c.1746-4G>T (n.1746-4G>T) c.1353-4G>T (n.1353-4G>T) c.1815-4G>T (n.1815-4G>T) c.1749-4G>T (n.1749-4G>T) c.1707-4G>T (n.1707-4G>T) c.780-4G>T (n.780-4G>T) | gnomAD v4 |
20 | g.63408541C>A | CA2653808615 | KCNQ2 | c.1818-5G>T (n.1818-5G>T) c.1764-5G>T (n.1764-5G>T) c.90-5G>T c.1161-5G>T (n.1161-5G>T) c.1671-5G>T (n.1671-5G>T) c.1332-5G>T (n.1332-5G>T) c.1680-5G>T (n.1680-5G>T) c.1788-5G>T (n.1788-5G>T) c.1752-5G>T (n.1752-5G>T) c.1710-5G>T (n.1710-5G>T) c.1679+4909G>T (n.1679+4909G>T) c.1806-5G>T (n.1806-5G>T) c.1872-5G>T (n.1872-5G>T) c.1869-5G>T (n.1869-5G>T) c.1842-5G>T (n.1842-5G>T) c.1761-5G>T (n.1761-5G>T) c.1746-5G>T (n.1746-5G>T) c.1353-5G>T (n.1353-5G>T) c.1815-5G>T (n.1815-5G>T) c.1749-5G>T (n.1749-5G>T) c.1707-5G>T (n.1707-5G>T) c.780-5G>T (n.780-5G>T) | gnomAD v4 |
20 | g.63408541C= | CA2374775246 | KCNQ2 | c.1818-5G= (n.1818-5G=) c.1764-5G= (n.1764-5G=) c.90-5G= c.1161-5G= (n.1161-5G=) c.1671-5G= (n.1671-5G=) c.1332-5G= (n.1332-5G=) c.1680-5G= (n.1680-5G=) c.1788-5G= (n.1788-5G=) c.1752-5G= (n.1752-5G=) c.1710-5G= (n.1710-5G=) c.1679+4909G= (n.1679+4909G=) c.1806-5G= (n.1806-5G=) c.1872-5G= (n.1872-5G=) c.1869-5G= (n.1869-5G=) c.1842-5G= (n.1842-5G=) c.1761-5G= (n.1761-5G=) c.1746-5G= (n.1746-5G=) c.1353-5G= (n.1353-5G=) c.1815-5G= (n.1815-5G=) c.1749-5G= (n.1749-5G=) c.1707-5G= (n.1707-5G=) c.780-5G= (n.780-5G=) | |
20 | g.63408541C>G | CA2653808616 | KCNQ2 | c.1818-5G>C (n.1818-5G>C) c.1764-5G>C (n.1764-5G>C) c.90-5G>C c.1161-5G>C (n.1161-5G>C) c.1671-5G>C (n.1671-5G>C) c.1332-5G>C (n.1332-5G>C) c.1680-5G>C (n.1680-5G>C) c.1788-5G>C (n.1788-5G>C) c.1752-5G>C (n.1752-5G>C) c.1710-5G>C (n.1710-5G>C) c.1679+4909G>C (n.1679+4909G>C) c.1806-5G>C (n.1806-5G>C) c.1872-5G>C (n.1872-5G>C) c.1869-5G>C (n.1869-5G>C) c.1842-5G>C (n.1842-5G>C) c.1761-5G>C (n.1761-5G>C) c.1746-5G>C (n.1746-5G>C) c.1353-5G>C (n.1353-5G>C) c.1815-5G>C (n.1815-5G>C) c.1749-5G>C (n.1749-5G>C) c.1707-5G>C (n.1707-5G>C) c.780-5G>C (n.780-5G>C) | gnomAD v4 |
20 | g.63408541C>T | CA636341063 | KCNQ2 | c.1818-5G>A (n.1818-5G>A) c.1764-5G>A (n.1764-5G>A) c.90-5G>A c.1161-5G>A (n.1161-5G>A) c.1671-5G>A (n.1671-5G>A) c.1332-5G>A (n.1332-5G>A) c.1680-5G>A (n.1680-5G>A) c.1788-5G>A (n.1788-5G>A) c.1752-5G>A (n.1752-5G>A) c.1710-5G>A (n.1710-5G>A) c.1679+4909G>A (n.1679+4909G>A) c.1806-5G>A (n.1806-5G>A) c.1872-5G>A (n.1872-5G>A) c.1869-5G>A (n.1869-5G>A) c.1842-5G>A (n.1842-5G>A) c.1761-5G>A (n.1761-5G>A) c.1746-5G>A (n.1746-5G>A) c.1353-5G>A (n.1353-5G>A) c.1815-5G>A (n.1815-5G>A) c.1749-5G>A (n.1749-5G>A) c.1707-5G>A (n.1707-5G>A) c.780-5G>A (n.780-5G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63408542G>A | CA337999 | KCNQ2 | c.1818-6C>T (n.1818-6C>T) c.1764-6C>T (n.1764-6C>T) c.90-6C>T c.1161-6C>T (n.1161-6C>T) c.1671-6C>T (n.1671-6C>T) c.1332-6C>T (n.1332-6C>T) c.1680-6C>T (n.1680-6C>T) c.1788-6C>T (n.1788-6C>T) c.1752-6C>T (n.1752-6C>T) c.1710-6C>T (n.1710-6C>T) c.1679+4908C>T (n.1679+4908C>T) c.1806-6C>T (n.1806-6C>T) c.1872-6C>T (n.1872-6C>T) c.1869-6C>T (n.1869-6C>T) c.1842-6C>T (n.1842-6C>T) c.1761-6C>T (n.1761-6C>T) c.1746-6C>T (n.1746-6C>T) c.1353-6C>T (n.1353-6C>T) c.1815-6C>T (n.1815-6C>T) c.1749-6C>T (n.1749-6C>T) c.1707-6C>T (n.1707-6C>T) c.780-6C>T (n.780-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63408542G>C | CA2577453762 | KCNQ2 | c.1818-6C>G (n.1818-6C>G) c.1764-6C>G (n.1764-6C>G) c.90-6C>G c.1161-6C>G (n.1161-6C>G) c.1671-6C>G (n.1671-6C>G) c.1332-6C>G (n.1332-6C>G) c.1680-6C>G (n.1680-6C>G) c.1788-6C>G (n.1788-6C>G) c.1752-6C>G (n.1752-6C>G) c.1710-6C>G (n.1710-6C>G) c.1679+4908C>G (n.1679+4908C>G) c.1806-6C>G (n.1806-6C>G) c.1872-6C>G (n.1872-6C>G) c.1869-6C>G (n.1869-6C>G) c.1842-6C>G (n.1842-6C>G) c.1761-6C>G (n.1761-6C>G) c.1746-6C>G (n.1746-6C>G) c.1353-6C>G (n.1353-6C>G) c.1815-6C>G (n.1815-6C>G) c.1749-6C>G (n.1749-6C>G) c.1707-6C>G (n.1707-6C>G) c.780-6C>G (n.780-6C>G) | |
20 | g.63408542G= | CA2374775247 | KCNQ2 | c.1818-6C= (n.1818-6C=) c.1764-6C= (n.1764-6C=) c.90-6C= c.1161-6C= (n.1161-6C=) c.1671-6C= (n.1671-6C=) c.1332-6C= (n.1332-6C=) c.1680-6C= (n.1680-6C=) c.1788-6C= (n.1788-6C=) c.1752-6C= (n.1752-6C=) c.1710-6C= (n.1710-6C=) c.1679+4908C= (n.1679+4908C=) c.1806-6C= (n.1806-6C=) c.1872-6C= (n.1872-6C=) c.1869-6C= (n.1869-6C=) c.1842-6C= (n.1842-6C=) c.1761-6C= (n.1761-6C=) c.1746-6C= (n.1746-6C=) c.1353-6C= (n.1353-6C=) c.1815-6C= (n.1815-6C=) c.1749-6C= (n.1749-6C=) c.1707-6C= (n.1707-6C=) c.780-6C= (n.780-6C=) | |
20 | g.63408542G>T | CA342548 | KCNQ2 | c.1818-6C>A (n.1818-6C>A) c.1764-6C>A (n.1764-6C>A) c.90-6C>A c.1161-6C>A (n.1161-6C>A) c.1671-6C>A (n.1671-6C>A) c.1332-6C>A (n.1332-6C>A) c.1680-6C>A (n.1680-6C>A) c.1788-6C>A (n.1788-6C>A) c.1752-6C>A (n.1752-6C>A) c.1710-6C>A (n.1710-6C>A) c.1679+4908C>A (n.1679+4908C>A) c.1806-6C>A (n.1806-6C>A) c.1872-6C>A (n.1872-6C>A) c.1869-6C>A (n.1869-6C>A) c.1842-6C>A (n.1842-6C>A) c.1761-6C>A (n.1761-6C>A) c.1746-6C>A (n.1746-6C>A) c.1353-6C>A (n.1353-6C>A) c.1815-6C>A (n.1815-6C>A) c.1749-6C>A (n.1749-6C>A) c.1707-6C>A (n.1707-6C>A) c.780-6C>A (n.780-6C>A) | ClinVar dbSNP |
20 | g.63408543G>T | CA2653808620 | KCNQ2 | c.1818-7C>A (n.1818-7C>A) c.1764-7C>A (n.1764-7C>A) c.90-7C>A c.1161-7C>A (n.1161-7C>A) c.1671-7C>A (n.1671-7C>A) c.1332-7C>A (n.1332-7C>A) c.1680-7C>A (n.1680-7C>A) c.1788-7C>A (n.1788-7C>A) c.1752-7C>A (n.1752-7C>A) c.1710-7C>A (n.1710-7C>A) c.1679+4907C>A (n.1679+4907C>A) c.1806-7C>A (n.1806-7C>A) c.1872-7C>A (n.1872-7C>A) c.1869-7C>A (n.1869-7C>A) c.1842-7C>A (n.1842-7C>A) c.1761-7C>A (n.1761-7C>A) c.1746-7C>A (n.1746-7C>A) c.1353-7C>A (n.1353-7C>A) c.1815-7C>A (n.1815-7C>A) c.1749-7C>A (n.1749-7C>A) c.1707-7C>A (n.1707-7C>A) c.780-7C>A (n.780-7C>A) | gnomAD v4 |
20 | g.63408544G>C | CA2577453764 | KCNQ2 | c.1818-8C>G (n.1818-8C>G) c.1764-8C>G (n.1764-8C>G) c.90-8C>G c.1161-8C>G (n.1161-8C>G) c.1671-8C>G (n.1671-8C>G) c.1332-8C>G (n.1332-8C>G) c.1680-8C>G (n.1680-8C>G) c.1788-8C>G (n.1788-8C>G) c.1752-8C>G (n.1752-8C>G) c.1710-8C>G (n.1710-8C>G) c.1679+4906C>G (n.1679+4906C>G) c.1806-8C>G (n.1806-8C>G) c.1872-8C>G (n.1872-8C>G) c.1869-8C>G (n.1869-8C>G) c.1842-8C>G (n.1842-8C>G) c.1761-8C>G (n.1761-8C>G) c.1746-8C>G (n.1746-8C>G) c.1353-8C>G (n.1353-8C>G) c.1815-8C>G (n.1815-8C>G) c.1749-8C>G (n.1749-8C>G) c.1707-8C>G (n.1707-8C>G) c.780-8C>G (n.780-8C>G) | gnomAD v4 |
20 | g.63408544G= | CA2374775248 | KCNQ2 | c.1818-8C= (n.1818-8C=) c.1764-8C= (n.1764-8C=) c.90-8C= c.1161-8C= (n.1161-8C=) c.1671-8C= (n.1671-8C=) c.1332-8C= (n.1332-8C=) c.1680-8C= (n.1680-8C=) c.1788-8C= (n.1788-8C=) c.1752-8C= (n.1752-8C=) c.1710-8C= (n.1710-8C=) c.1679+4906C= (n.1679+4906C=) c.1806-8C= (n.1806-8C=) c.1872-8C= (n.1872-8C=) c.1869-8C= (n.1869-8C=) c.1842-8C= (n.1842-8C=) c.1761-8C= (n.1761-8C=) c.1746-8C= (n.1746-8C=) c.1353-8C= (n.1353-8C=) c.1815-8C= (n.1815-8C=) c.1749-8C= (n.1749-8C=) c.1707-8C= (n.1707-8C=) c.780-8C= (n.780-8C=) | |
20 | g.63408544G>T | CA9958246 | KCNQ2 | c.1818-8C>A (n.1818-8C>A) c.1764-8C>A (n.1764-8C>A) c.90-8C>A c.1161-8C>A (n.1161-8C>A) c.1671-8C>A (n.1671-8C>A) c.1332-8C>A (n.1332-8C>A) c.1680-8C>A (n.1680-8C>A) c.1788-8C>A (n.1788-8C>A) c.1752-8C>A (n.1752-8C>A) c.1710-8C>A (n.1710-8C>A) c.1679+4906C>A (n.1679+4906C>A) c.1806-8C>A (n.1806-8C>A) c.1872-8C>A (n.1872-8C>A) c.1869-8C>A (n.1869-8C>A) c.1842-8C>A (n.1842-8C>A) c.1761-8C>A (n.1761-8C>A) c.1746-8C>A (n.1746-8C>A) c.1353-8C>A (n.1353-8C>A) c.1815-8C>A (n.1815-8C>A) c.1749-8C>A (n.1749-8C>A) c.1707-8C>A (n.1707-8C>A) c.780-8C>A (n.780-8C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |