Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.63407281G>A | CA409639248 | KCNQ2 | c.2036C>T (p.Ala679Val) c.1982C>T (p.Ala661Val) c.1379C>T (p.Ala460Val) c.1889C>T (p.Ala630Val) c.1550C>T (p.Ala517Val) c.1898C>T (p.Ala633Val) c.2006C>T (p.Ala669Val) c.1970C>T (p.Ala657Val) c.1928C>T (p.Ala643Val) c.1679+6169C>T (n.1679+6169C>T) c.2024C>T (p.Ala675Val) c.2090C>T (p.Ala697Val) c.2087C>T (p.Ala696Val) c.2060C>T (p.Ala687Val) c.1979C>T (p.Ala660Val) c.1964C>T (p.Ala655Val) c.1571C>T (p.Ala524Val) c.2033C>T (p.Ala678Val) c.1967C>T (p.Ala656Val) c.1925C>T (p.Ala642Val) c.998C>T (p.Ala333Val) | |
20 | g.63407281G>C | CA409639249 | KCNQ2 | c.2036C>G (p.Ala679Gly) c.1982C>G (p.Ala661Gly) c.1379C>G (p.Ala460Gly) c.1889C>G (p.Ala630Gly) c.1550C>G (p.Ala517Gly) c.1898C>G (p.Ala633Gly) c.2006C>G (p.Ala669Gly) c.1970C>G (p.Ala657Gly) c.1928C>G (p.Ala643Gly) c.1679+6169C>G (n.1679+6169C>G) c.2024C>G (p.Ala675Gly) c.2090C>G (p.Ala697Gly) c.2087C>G (p.Ala696Gly) c.2060C>G (p.Ala687Gly) c.1979C>G (p.Ala660Gly) c.1964C>G (p.Ala655Gly) c.1571C>G (p.Ala524Gly) c.2033C>G (p.Ala678Gly) c.1967C>G (p.Ala656Gly) c.1925C>G (p.Ala642Gly) c.998C>G (p.Ala333Gly) | |
20 | g.63407281G>T | CA409639250 | KCNQ2 | c.2036C>A (p.Ala679Asp) c.1982C>A (p.Ala661Asp) c.1379C>A (p.Ala460Asp) c.1889C>A (p.Ala630Asp) c.1550C>A (p.Ala517Asp) c.1898C>A (p.Ala633Asp) c.2006C>A (p.Ala669Asp) c.1970C>A (p.Ala657Asp) c.1928C>A (p.Ala643Asp) c.1679+6169C>A (n.1679+6169C>A) c.2024C>A (p.Ala675Asp) c.2090C>A (p.Ala697Asp) c.2087C>A (p.Ala696Asp) c.2060C>A (p.Ala687Asp) c.1979C>A (p.Ala660Asp) c.1964C>A (p.Ala655Asp) c.1571C>A (p.Ala524Asp) c.2033C>A (p.Ala678Asp) c.1967C>A (p.Ala656Asp) c.1925C>A (p.Ala642Asp) c.998C>A (p.Ala333Asp) | gnomAD v4 |
20 | g.63407282C>A | CA409639251 | KCNQ2 | c.2035G>T (p.Ala679Ser) c.1981G>T (p.Ala661Ser) c.1378G>T (p.Ala460Ser) c.1888G>T (p.Ala630Ser) c.1549G>T (p.Ala517Ser) c.1897G>T (p.Ala633Ser) c.2005G>T (p.Ala669Ser) c.1969G>T (p.Ala657Ser) c.1927G>T (p.Ala643Ser) c.1679+6168G>T (n.1679+6168G>T) c.2023G>T (p.Ala675Ser) c.2089G>T (p.Ala697Ser) c.2086G>T (p.Ala696Ser) c.2059G>T (p.Ala687Ser) c.1978G>T (p.Ala660Ser) c.1963G>T (p.Ala655Ser) c.1570G>T (p.Ala524Ser) c.2032G>T (p.Ala678Ser) c.1966G>T (p.Ala656Ser) c.1924G>T (p.Ala642Ser) c.997G>T (p.Ala333Ser) | gnomAD v4 |
20 | g.63407282C>G | CA409639253 | KCNQ2 | c.2035G>C (p.Ala679Pro) c.1981G>C (p.Ala661Pro) c.1378G>C (p.Ala460Pro) c.1888G>C (p.Ala630Pro) c.1549G>C (p.Ala517Pro) c.1897G>C (p.Ala633Pro) c.2005G>C (p.Ala669Pro) c.1969G>C (p.Ala657Pro) c.1927G>C (p.Ala643Pro) c.1679+6168G>C (n.1679+6168G>C) c.2023G>C (p.Ala675Pro) c.2089G>C (p.Ala697Pro) c.2086G>C (p.Ala696Pro) c.2059G>C (p.Ala687Pro) c.1978G>C (p.Ala660Pro) c.1963G>C (p.Ala655Pro) c.1570G>C (p.Ala524Pro) c.2032G>C (p.Ala678Pro) c.1966G>C (p.Ala656Pro) c.1924G>C (p.Ala642Pro) c.997G>C (p.Ala333Pro) | |
20 | g.63407282C>T | CA409639256 | KCNQ2 | c.2035G>A (p.Ala679Thr) c.1981G>A (p.Ala661Thr) c.1378G>A (p.Ala460Thr) c.1888G>A (p.Ala630Thr) c.1549G>A (p.Ala517Thr) c.1897G>A (p.Ala633Thr) c.2005G>A (p.Ala669Thr) c.1969G>A (p.Ala657Thr) c.1927G>A (p.Ala643Thr) c.1679+6168G>A (n.1679+6168G>A) c.2023G>A (p.Ala675Thr) c.2089G>A (p.Ala697Thr) c.2086G>A (p.Ala696Thr) c.2059G>A (p.Ala687Thr) c.1978G>A (p.Ala660Thr) c.1963G>A (p.Ala655Thr) c.1570G>A (p.Ala524Thr) c.2032G>A (p.Ala678Thr) c.1966G>A (p.Ala656Thr) c.1924G>A (p.Ala642Thr) c.997G>A (p.Ala333Thr) | |
20 | g.63407285del | CA2838520116 | KCNQ2 | c.2035del (p.Ala679ProfsTer?) c.1981del (p.Ala661ProfsTer?) c.1378del (p.Ala460ProfsTer?) c.1888del (p.Ala630ProfsTer?) c.1549del (p.Ala517ProfsTer?) c.1897del (p.Ala633ProfsTer?) c.2005del (p.Ala669ProfsTer?) c.1969del (p.Ala657ProfsTer?) c.1927del (p.Ala643ProfsTer?) c.1679+6168del (n.1679+6168del) c.2023del (p.Ala675ProfsTer?) c.2089del (p.Ala697ProfsTer?) c.2086del (p.Ala696ProfsTer?) c.2059del (p.Ala687ProfsTer?) c.1978del (p.Ala660ProfsTer?) c.1963del (p.Ala655ProfsTer?) c.1570del (p.Ala524ProfsTer?) c.2032del (p.Ala678ProfsTer?) c.1966del (p.Ala656ProfsTer?) c.1924del (p.Ala642ProfsTer?) c.997del (p.Ala333ProfsTer?) | |
20 | g.63407283C>A | CA511339547 | KCNQ2 | c.2034G>T (p.Gly678=) c.1980G>T (p.Gly660=) c.1377G>T (p.Gly459=) c.1887G>T (p.Gly629=) c.1548G>T (p.Gly516=) c.1896G>T (p.Gly632=) c.2004G>T (p.Gly668=) c.1968G>T (p.Gly656=) c.1926G>T (p.Gly642=) c.1679+6167G>T (n.1679+6167G>T) c.2022G>T (p.Gly674=) c.2088G>T (p.Gly696=) c.2085G>T (p.Gly695=) c.2058G>T (p.Gly686=) c.1977G>T (p.Gly659=) c.1962G>T (p.Gly654=) c.1569G>T (p.Gly523=) c.2031G>T (p.Gly677=) c.1965G>T (p.Gly655=) c.1923G>T (p.Gly641=) c.996G>T (p.Gly332=) | |
20 | g.63407283C>G | CA511339545 | KCNQ2 | c.2034G>C (p.Gly678=) c.1980G>C (p.Gly660=) c.1377G>C (p.Gly459=) c.1887G>C (p.Gly629=) c.1548G>C (p.Gly516=) c.1896G>C (p.Gly632=) c.2004G>C (p.Gly668=) c.1968G>C (p.Gly656=) c.1926G>C (p.Gly642=) c.1679+6167G>C (n.1679+6167G>C) c.2022G>C (p.Gly674=) c.2088G>C (p.Gly696=) c.2085G>C (p.Gly695=) c.2058G>C (p.Gly686=) c.1977G>C (p.Gly659=) c.1962G>C (p.Gly654=) c.1569G>C (p.Gly523=) c.2031G>C (p.Gly677=) c.1965G>C (p.Gly655=) c.1923G>C (p.Gly641=) c.996G>C (p.Gly332=) | |
20 | g.63407283C>T | CA511339546 | KCNQ2 | c.2034G>A (p.Gly678=) c.1980G>A (p.Gly660=) c.1377G>A (p.Gly459=) c.1887G>A (p.Gly629=) c.1548G>A (p.Gly516=) c.1896G>A (p.Gly632=) c.2004G>A (p.Gly668=) c.1968G>A (p.Gly656=) c.1926G>A (p.Gly642=) c.1679+6167G>A (n.1679+6167G>A) c.2022G>A (p.Gly674=) c.2088G>A (p.Gly696=) c.2085G>A (p.Gly695=) c.2058G>A (p.Gly686=) c.1977G>A (p.Gly659=) c.1962G>A (p.Gly654=) c.1569G>A (p.Gly523=) c.2031G>A (p.Gly677=) c.1965G>A (p.Gly655=) c.1923G>A (p.Gly641=) c.996G>A (p.Gly332=) | |
20 | g.63407284C>A | CA409639258 | KCNQ2 | c.2033G>T (p.Gly678Val) c.1979G>T (p.Gly660Val) c.1376G>T (p.Gly459Val) c.1886G>T (p.Gly629Val) c.1547G>T (p.Gly516Val) c.1895G>T (p.Gly632Val) c.2003G>T (p.Gly668Val) c.1967G>T (p.Gly656Val) c.1925G>T (p.Gly642Val) c.1679+6166G>T (n.1679+6166G>T) c.2021G>T (p.Gly674Val) c.2087G>T (p.Gly696Val) c.2084G>T (p.Gly695Val) c.2057G>T (p.Gly686Val) c.1976G>T (p.Gly659Val) c.1961G>T (p.Gly654Val) c.1568G>T (p.Gly523Val) c.2030G>T (p.Gly677Val) c.1964G>T (p.Gly655Val) c.1922G>T (p.Gly641Val) c.995G>T (p.Gly332Val) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63407284C= | CA2374774524 | KCNQ2 | c.2033G= (p.Gly678=) c.1979G= (p.Gly660=) c.1376G= (p.Gly459=) c.1886G= (p.Gly629=) c.1547G= (p.Gly516=) c.1895G= (p.Gly632=) c.2003G= (p.Gly668=) c.1967G= (p.Gly656=) c.1925G= (p.Gly642=) c.1679+6166G= (n.1679+6166G=) c.2021G= (p.Gly674=) c.2087G= (p.Gly696=) c.2084G= (p.Gly695=) c.2057G= (p.Gly686=) c.1976G= (p.Gly659=) c.1961G= (p.Gly654=) c.1568G= (p.Gly523=) c.2030G= (p.Gly677=) c.1964G= (p.Gly655=) c.1922G= (p.Gly641=) c.995G= (p.Gly332=) | |
20 | g.63407284C>G | CA409639259 | KCNQ2 | c.2033G>C (p.Gly678Ala) c.1979G>C (p.Gly660Ala) c.1376G>C (p.Gly459Ala) c.1886G>C (p.Gly629Ala) c.1547G>C (p.Gly516Ala) c.1895G>C (p.Gly632Ala) c.2003G>C (p.Gly668Ala) c.1967G>C (p.Gly656Ala) c.1925G>C (p.Gly642Ala) c.1679+6166G>C (n.1679+6166G>C) c.2021G>C (p.Gly674Ala) c.2087G>C (p.Gly696Ala) c.2084G>C (p.Gly695Ala) c.2057G>C (p.Gly686Ala) c.1976G>C (p.Gly659Ala) c.1961G>C (p.Gly654Ala) c.1568G>C (p.Gly523Ala) c.2030G>C (p.Gly677Ala) c.1964G>C (p.Gly655Ala) c.1922G>C (p.Gly641Ala) c.995G>C (p.Gly332Ala) | |
20 | g.63407284C>T | CA409639260 | KCNQ2 | c.2033G>A (p.Gly678Glu) c.1979G>A (p.Gly660Glu) c.1376G>A (p.Gly459Glu) c.1886G>A (p.Gly629Glu) c.1547G>A (p.Gly516Glu) c.1895G>A (p.Gly632Glu) c.2003G>A (p.Gly668Glu) c.1967G>A (p.Gly656Glu) c.1925G>A (p.Gly642Glu) c.1679+6166G>A (n.1679+6166G>A) c.2021G>A (p.Gly674Glu) c.2087G>A (p.Gly696Glu) c.2084G>A (p.Gly695Glu) c.2057G>A (p.Gly686Glu) c.1976G>A (p.Gly659Glu) c.1961G>A (p.Gly654Glu) c.1568G>A (p.Gly523Glu) c.2030G>A (p.Gly677Glu) c.1964G>A (p.Gly655Glu) c.1922G>A (p.Gly641Glu) c.995G>A (p.Gly332Glu) | |
20 | g.63407285C>A | CA409639266 | KCNQ2 | c.2032G>T (p.Gly678Trp) c.1978G>T (p.Gly660Trp) c.1375G>T (p.Gly459Trp) c.1885G>T (p.Gly629Trp) c.1546G>T (p.Gly516Trp) c.1894G>T (p.Gly632Trp) c.2002G>T (p.Gly668Trp) c.1966G>T (p.Gly656Trp) c.1924G>T (p.Gly642Trp) c.1679+6165G>T (n.1679+6165G>T) c.2020G>T (p.Gly674Trp) c.2086G>T (p.Gly696Trp) c.2083G>T (p.Gly695Trp) c.2056G>T (p.Gly686Trp) c.1975G>T (p.Gly659Trp) c.1960G>T (p.Gly654Trp) c.1567G>T (p.Gly523Trp) c.2029G>T (p.Gly677Trp) c.1963G>T (p.Gly655Trp) c.1921G>T (p.Gly641Trp) c.994G>T (p.Gly332Trp) | gnomAD v4 |
20 | g.63407285C= | CA2374774525 | KCNQ2 | c.2032G= (p.Gly678=) c.1978G= (p.Gly660=) c.1375G= (p.Gly459=) c.1885G= (p.Gly629=) c.1546G= (p.Gly516=) c.1894G= (p.Gly632=) c.2002G= (p.Gly668=) c.1966G= (p.Gly656=) c.1924G= (p.Gly642=) c.1679+6165G= (n.1679+6165G=) c.2020G= (p.Gly674=) c.2086G= (p.Gly696=) c.2083G= (p.Gly695=) c.2056G= (p.Gly686=) c.1975G= (p.Gly659=) c.1960G= (p.Gly654=) c.1567G= (p.Gly523=) c.2029G= (p.Gly677=) c.1963G= (p.Gly655=) c.1921G= (p.Gly641=) c.994G= (p.Gly332=) | |
20 | g.63407285C>G | CA409639265 | KCNQ2 | c.2032G>C (p.Gly678Arg) c.1978G>C (p.Gly660Arg) c.1375G>C (p.Gly459Arg) c.1885G>C (p.Gly629Arg) c.1546G>C (p.Gly516Arg) c.1894G>C (p.Gly632Arg) c.2002G>C (p.Gly668Arg) c.1966G>C (p.Gly656Arg) c.1924G>C (p.Gly642Arg) c.1679+6165G>C (n.1679+6165G>C) c.2020G>C (p.Gly674Arg) c.2086G>C (p.Gly696Arg) c.2083G>C (p.Gly695Arg) c.2056G>C (p.Gly686Arg) c.1975G>C (p.Gly659Arg) c.1960G>C (p.Gly654Arg) c.1567G>C (p.Gly523Arg) c.2029G>C (p.Gly677Arg) c.1963G>C (p.Gly655Arg) c.1921G>C (p.Gly641Arg) c.994G>C (p.Gly332Arg) | |
20 | g.63407285C>T | CA409639264 | KCNQ2 | c.2032G>A (p.Gly678Arg) c.1978G>A (p.Gly660Arg) c.1375G>A (p.Gly459Arg) c.1885G>A (p.Gly629Arg) c.1546G>A (p.Gly516Arg) c.1894G>A (p.Gly632Arg) c.2002G>A (p.Gly668Arg) c.1966G>A (p.Gly656Arg) c.1924G>A (p.Gly642Arg) c.1679+6165G>A (n.1679+6165G>A) c.2020G>A (p.Gly674Arg) c.2086G>A (p.Gly696Arg) c.2083G>A (p.Gly695Arg) c.2056G>A (p.Gly686Arg) c.1975G>A (p.Gly659Arg) c.1960G>A (p.Gly654Arg) c.1567G>A (p.Gly523Arg) c.2029G>A (p.Gly677Arg) c.1963G>A (p.Gly655Arg) c.1921G>A (p.Gly641Arg) c.994G>A (p.Gly332Arg) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63407286A= | CA2374774526 | KCNQ2 | c.2031T= (p.Phe677=) c.1977T= (p.Phe659=) c.1374T= (p.Phe458=) c.1884T= (p.Phe628=) c.1545T= (p.Phe515=) c.1893T= (p.Phe631=) c.2001T= (p.Phe667=) c.1965T= (p.Phe655=) c.1923T= (p.Phe641=) c.1679+6164T= (n.1679+6164T=) c.2019T= (p.Phe673=) c.2085T= (p.Phe695=) c.2082T= (p.Phe694=) c.2055T= (p.Phe685=) c.1974T= (p.Phe658=) c.1959T= (p.Phe653=) c.1566T= (p.Phe522=) c.2028T= (p.Phe676=) c.1962T= (p.Phe654=) c.1920T= (p.Phe640=) c.993T= (p.Phe331=) | |
20 | g.63407286A>C | CA409639270 | KCNQ2 | c.2031T>G (p.Phe677Leu) c.1977T>G (p.Phe659Leu) c.1374T>G (p.Phe458Leu) c.1884T>G (p.Phe628Leu) c.1545T>G (p.Phe515Leu) c.1893T>G (p.Phe631Leu) c.2001T>G (p.Phe667Leu) c.1965T>G (p.Phe655Leu) c.1923T>G (p.Phe641Leu) c.1679+6164T>G (n.1679+6164T>G) c.2019T>G (p.Phe673Leu) c.2085T>G (p.Phe695Leu) c.2082T>G (p.Phe694Leu) c.2055T>G (p.Phe685Leu) c.1974T>G (p.Phe658Leu) c.1959T>G (p.Phe653Leu) c.1566T>G (p.Phe522Leu) c.2028T>G (p.Phe676Leu) c.1962T>G (p.Phe654Leu) c.1920T>G (p.Phe640Leu) c.993T>G (p.Phe331Leu) | |
20 | g.63407286A>G | CA9958181 | KCNQ2 | c.2031T>C (p.Phe677=) c.1977T>C (p.Phe659=) c.1374T>C (p.Phe458=) c.1884T>C (p.Phe628=) c.1545T>C (p.Phe515=) c.1893T>C (p.Phe631=) c.2001T>C (p.Phe667=) c.1965T>C (p.Phe655=) c.1923T>C (p.Phe641=) c.1679+6164T>C (n.1679+6164T>C) c.2019T>C (p.Phe673=) c.2085T>C (p.Phe695=) c.2082T>C (p.Phe694=) c.2055T>C (p.Phe685=) c.1974T>C (p.Phe658=) c.1959T>C (p.Phe653=) c.1566T>C (p.Phe522=) c.2028T>C (p.Phe676=) c.1962T>C (p.Phe654=) c.1920T>C (p.Phe640=) c.993T>C (p.Phe331=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407286A>T | CA409639272 | KCNQ2 | c.2031T>A (p.Phe677Leu) c.1977T>A (p.Phe659Leu) c.1374T>A (p.Phe458Leu) c.1884T>A (p.Phe628Leu) c.1545T>A (p.Phe515Leu) c.1893T>A (p.Phe631Leu) c.2001T>A (p.Phe667Leu) c.1965T>A (p.Phe655Leu) c.1923T>A (p.Phe641Leu) c.1679+6164T>A (n.1679+6164T>A) c.2019T>A (p.Phe673Leu) c.2085T>A (p.Phe695Leu) c.2082T>A (p.Phe694Leu) c.2055T>A (p.Phe685Leu) c.1974T>A (p.Phe658Leu) c.1959T>A (p.Phe653Leu) c.1566T>A (p.Phe522Leu) c.2028T>A (p.Phe676Leu) c.1962T>A (p.Phe654Leu) c.1920T>A (p.Phe640Leu) c.993T>A (p.Phe331Leu) | |
20 | g.63407287A= | CA2374774527 | KCNQ2 | c.2030T= (p.Phe677=) c.1976T= (p.Phe659=) c.1373T= (p.Phe458=) c.1883T= (p.Phe628=) c.1544T= (p.Phe515=) c.1892T= (p.Phe631=) c.2000T= (p.Phe667=) c.1964T= (p.Phe655=) c.1922T= (p.Phe641=) c.1679+6163T= (n.1679+6163T=) c.2018T= (p.Phe673=) c.2084T= (p.Phe695=) c.2081T= (p.Phe694=) c.2054T= (p.Phe685=) c.1973T= (p.Phe658=) c.1958T= (p.Phe653=) c.1565T= (p.Phe522=) c.2027T= (p.Phe676=) c.1961T= (p.Phe654=) c.1919T= (p.Phe640=) c.992T= (p.Phe331=) | |
20 | g.63407287A>C | CA409639274 | KCNQ2 | c.2030T>G (p.Phe677Cys) c.1976T>G (p.Phe659Cys) c.1373T>G (p.Phe458Cys) c.1883T>G (p.Phe628Cys) c.1544T>G (p.Phe515Cys) c.1892T>G (p.Phe631Cys) c.2000T>G (p.Phe667Cys) c.1964T>G (p.Phe655Cys) c.1922T>G (p.Phe641Cys) c.1679+6163T>G (n.1679+6163T>G) c.2018T>G (p.Phe673Cys) c.2084T>G (p.Phe695Cys) c.2081T>G (p.Phe694Cys) c.2054T>G (p.Phe685Cys) c.1973T>G (p.Phe658Cys) c.1958T>G (p.Phe653Cys) c.1565T>G (p.Phe522Cys) c.2027T>G (p.Phe676Cys) c.1961T>G (p.Phe654Cys) c.1919T>G (p.Phe640Cys) c.992T>G (p.Phe331Cys) | |
20 | g.63407287A>G | CA9958182 | KCNQ2 | c.2030T>C (p.Phe677Ser) c.1976T>C (p.Phe659Ser) c.1373T>C (p.Phe458Ser) c.1883T>C (p.Phe628Ser) c.1544T>C (p.Phe515Ser) c.1892T>C (p.Phe631Ser) c.2000T>C (p.Phe667Ser) c.1964T>C (p.Phe655Ser) c.1922T>C (p.Phe641Ser) c.1679+6163T>C (n.1679+6163T>C) c.2018T>C (p.Phe673Ser) c.2084T>C (p.Phe695Ser) c.2081T>C (p.Phe694Ser) c.2054T>C (p.Phe685Ser) c.1973T>C (p.Phe658Ser) c.1958T>C (p.Phe653Ser) c.1565T>C (p.Phe522Ser) c.2027T>C (p.Phe676Ser) c.1961T>C (p.Phe654Ser) c.1919T>C (p.Phe640Ser) c.992T>C (p.Phe331Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407287A>T | CA409639277 | KCNQ2 | c.2030T>A (p.Phe677Tyr) c.1976T>A (p.Phe659Tyr) c.1373T>A (p.Phe458Tyr) c.1883T>A (p.Phe628Tyr) c.1544T>A (p.Phe515Tyr) c.1892T>A (p.Phe631Tyr) c.2000T>A (p.Phe667Tyr) c.1964T>A (p.Phe655Tyr) c.1922T>A (p.Phe641Tyr) c.1679+6163T>A (n.1679+6163T>A) c.2018T>A (p.Phe673Tyr) c.2084T>A (p.Phe695Tyr) c.2081T>A (p.Phe694Tyr) c.2054T>A (p.Phe685Tyr) c.1973T>A (p.Phe658Tyr) c.1958T>A (p.Phe653Tyr) c.1565T>A (p.Phe522Tyr) c.2027T>A (p.Phe676Tyr) c.1961T>A (p.Phe654Tyr) c.1919T>A (p.Phe640Tyr) c.992T>A (p.Phe331Tyr) | |
20 | g.63407288A>C | CA409639279 | KCNQ2 | c.2029T>G (p.Phe677Val) c.1975T>G (p.Phe659Val) c.1372T>G (p.Phe458Val) c.1882T>G (p.Phe628Val) c.1543T>G (p.Phe515Val) c.1891T>G (p.Phe631Val) c.1999T>G (p.Phe667Val) c.1963T>G (p.Phe655Val) c.1921T>G (p.Phe641Val) c.1679+6162T>G (n.1679+6162T>G) c.2017T>G (p.Phe673Val) c.2083T>G (p.Phe695Val) c.2080T>G (p.Phe694Val) c.2053T>G (p.Phe685Val) c.1972T>G (p.Phe658Val) c.1957T>G (p.Phe653Val) c.1564T>G (p.Phe522Val) c.2026T>G (p.Phe676Val) c.1960T>G (p.Phe654Val) c.1918T>G (p.Phe640Val) c.991T>G (p.Phe331Val) | |
20 | g.63407288A>G | CA409639281 | KCNQ2 | c.2029T>C (p.Phe677Leu) c.1975T>C (p.Phe659Leu) c.1372T>C (p.Phe458Leu) c.1882T>C (p.Phe628Leu) c.1543T>C (p.Phe515Leu) c.1891T>C (p.Phe631Leu) c.1999T>C (p.Phe667Leu) c.1963T>C (p.Phe655Leu) c.1921T>C (p.Phe641Leu) c.1679+6162T>C (n.1679+6162T>C) c.2017T>C (p.Phe673Leu) c.2083T>C (p.Phe695Leu) c.2080T>C (p.Phe694Leu) c.2053T>C (p.Phe685Leu) c.1972T>C (p.Phe658Leu) c.1957T>C (p.Phe653Leu) c.1564T>C (p.Phe522Leu) c.2026T>C (p.Phe676Leu) c.1960T>C (p.Phe654Leu) c.1918T>C (p.Phe640Leu) c.991T>C (p.Phe331Leu) | |
20 | g.63407288A>T | CA409639283 | KCNQ2 | c.2029T>A (p.Phe677Ile) c.1975T>A (p.Phe659Ile) c.1372T>A (p.Phe458Ile) c.1882T>A (p.Phe628Ile) c.1543T>A (p.Phe515Ile) c.1891T>A (p.Phe631Ile) c.1999T>A (p.Phe667Ile) c.1963T>A (p.Phe655Ile) c.1921T>A (p.Phe641Ile) c.1679+6162T>A (n.1679+6162T>A) c.2017T>A (p.Phe673Ile) c.2083T>A (p.Phe695Ile) c.2080T>A (p.Phe694Ile) c.2053T>A (p.Phe685Ile) c.1972T>A (p.Phe658Ile) c.1957T>A (p.Phe653Ile) c.1564T>A (p.Phe522Ile) c.2026T>A (p.Phe676Ile) c.1960T>A (p.Phe654Ile) c.1918T>A (p.Phe640Ile) c.991T>A (p.Phe331Ile) | |
20 | g.63407289G>A | CA511339548 | KCNQ2 | c.2028C>T (p.Tyr676=) c.1974C>T (p.Tyr658=) c.1371C>T (p.Tyr457=) c.1881C>T (p.Tyr627=) c.1542C>T (p.Tyr514=) c.1890C>T (p.Tyr630=) c.1998C>T (p.Tyr666=) c.1962C>T (p.Tyr654=) c.1920C>T (p.Tyr640=) c.1679+6161C>T (n.1679+6161C>T) c.2016C>T (p.Tyr672=) c.2082C>T (p.Tyr694=) c.2079C>T (p.Tyr693=) c.2052C>T (p.Tyr684=) c.1971C>T (p.Tyr657=) c.1956C>T (p.Tyr652=) c.1563C>T (p.Tyr521=) c.2025C>T (p.Tyr675=) c.1959C>T (p.Tyr653=) c.1917C>T (p.Tyr639=) c.990C>T (p.Tyr330=) | |
20 | g.63407289G>C | CA409639288 | KCNQ2 | c.2028C>G (p.Tyr676Ter) c.1974C>G (p.Tyr658Ter) c.1371C>G (p.Tyr457Ter) c.1881C>G (p.Tyr627Ter) c.1542C>G (p.Tyr514Ter) c.1890C>G (p.Tyr630Ter) c.1998C>G (p.Tyr666Ter) c.1962C>G (p.Tyr654Ter) c.1920C>G (p.Tyr640Ter) c.1679+6161C>G (n.1679+6161C>G) c.2016C>G (p.Tyr672Ter) c.2082C>G (p.Tyr694Ter) c.2079C>G (p.Tyr693Ter) c.2052C>G (p.Tyr684Ter) c.1971C>G (p.Tyr657Ter) c.1956C>G (p.Tyr652Ter) c.1563C>G (p.Tyr521Ter) c.2025C>G (p.Tyr675Ter) c.1959C>G (p.Tyr653Ter) c.1917C>G (p.Tyr639Ter) c.990C>G (p.Tyr330Ter) | |
20 | g.63407289G>T | CA409639286 | KCNQ2 | c.2028C>A (p.Tyr676Ter) c.1974C>A (p.Tyr658Ter) c.1371C>A (p.Tyr457Ter) c.1881C>A (p.Tyr627Ter) c.1542C>A (p.Tyr514Ter) c.1890C>A (p.Tyr630Ter) c.1998C>A (p.Tyr666Ter) c.1962C>A (p.Tyr654Ter) c.1920C>A (p.Tyr640Ter) c.1679+6161C>A (n.1679+6161C>A) c.2016C>A (p.Tyr672Ter) c.2082C>A (p.Tyr694Ter) c.2079C>A (p.Tyr693Ter) c.2052C>A (p.Tyr684Ter) c.1971C>A (p.Tyr657Ter) c.1956C>A (p.Tyr652Ter) c.1563C>A (p.Tyr521Ter) c.2025C>A (p.Tyr675Ter) c.1959C>A (p.Tyr653Ter) c.1917C>A (p.Tyr639Ter) c.990C>A (p.Tyr330Ter) | |
20 | g.63407290T>A | CA409639290 | KCNQ2 | c.2027A>T (p.Tyr676Phe) c.1973A>T (p.Tyr658Phe) c.1370A>T (p.Tyr457Phe) c.1880A>T (p.Tyr627Phe) c.1541A>T (p.Tyr514Phe) c.1889A>T (p.Tyr630Phe) c.1997A>T (p.Tyr666Phe) c.1961A>T (p.Tyr654Phe) c.1919A>T (p.Tyr640Phe) c.1679+6160A>T (n.1679+6160A>T) c.2015A>T (p.Tyr672Phe) c.2081A>T (p.Tyr694Phe) c.2078A>T (p.Tyr693Phe) c.2051A>T (p.Tyr684Phe) c.1970A>T (p.Tyr657Phe) c.1955A>T (p.Tyr652Phe) c.1562A>T (p.Tyr521Phe) c.2024A>T (p.Tyr675Phe) c.1958A>T (p.Tyr653Phe) c.1916A>T (p.Tyr639Phe) c.989A>T (p.Tyr330Phe) | |
20 | g.63407290T>C | CA9958183 | KCNQ2 | c.2027A>G (p.Tyr676Cys) c.1973A>G (p.Tyr658Cys) c.1370A>G (p.Tyr457Cys) c.1880A>G (p.Tyr627Cys) c.1541A>G (p.Tyr514Cys) c.1889A>G (p.Tyr630Cys) c.1997A>G (p.Tyr666Cys) c.1961A>G (p.Tyr654Cys) c.1919A>G (p.Tyr640Cys) c.1679+6160A>G (n.1679+6160A>G) c.2015A>G (p.Tyr672Cys) c.2081A>G (p.Tyr694Cys) c.2078A>G (p.Tyr693Cys) c.2051A>G (p.Tyr684Cys) c.1970A>G (p.Tyr657Cys) c.1955A>G (p.Tyr652Cys) c.1562A>G (p.Tyr521Cys) c.2024A>G (p.Tyr675Cys) c.1958A>G (p.Tyr653Cys) c.1916A>G (p.Tyr639Cys) c.989A>G (p.Tyr330Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407290T>G | CA409639293 | KCNQ2 | c.2027A>C (p.Tyr676Ser) c.1973A>C (p.Tyr658Ser) c.1370A>C (p.Tyr457Ser) c.1880A>C (p.Tyr627Ser) c.1541A>C (p.Tyr514Ser) c.1889A>C (p.Tyr630Ser) c.1997A>C (p.Tyr666Ser) c.1961A>C (p.Tyr654Ser) c.1919A>C (p.Tyr640Ser) c.1679+6160A>C (n.1679+6160A>C) c.2015A>C (p.Tyr672Ser) c.2081A>C (p.Tyr694Ser) c.2078A>C (p.Tyr693Ser) c.2051A>C (p.Tyr684Ser) c.1970A>C (p.Tyr657Ser) c.1955A>C (p.Tyr652Ser) c.1562A>C (p.Tyr521Ser) c.2024A>C (p.Tyr675Ser) c.1958A>C (p.Tyr653Ser) c.1916A>C (p.Tyr639Ser) c.989A>C (p.Tyr330Ser) | |
20 | g.63407290T= | CA2374774528 | KCNQ2 | c.2027A= (p.Tyr676=) c.1973A= (p.Tyr658=) c.1370A= (p.Tyr457=) c.1880A= (p.Tyr627=) c.1541A= (p.Tyr514=) c.1889A= (p.Tyr630=) c.1997A= (p.Tyr666=) c.1961A= (p.Tyr654=) c.1919A= (p.Tyr640=) c.1679+6160A= (n.1679+6160A=) c.2015A= (p.Tyr672=) c.2081A= (p.Tyr694=) c.2078A= (p.Tyr693=) c.2051A= (p.Tyr684=) c.1970A= (p.Tyr657=) c.1955A= (p.Tyr652=) c.1562A= (p.Tyr521=) c.2024A= (p.Tyr675=) c.1958A= (p.Tyr653=) c.1916A= (p.Tyr639=) c.989A= (p.Tyr330=) | |
20 | g.63407291A= | CA2374774529 | KCNQ2 | c.2026T= (p.Tyr676=) c.1972T= (p.Tyr658=) c.1369T= (p.Tyr457=) c.1879T= (p.Tyr627=) c.1540T= (p.Tyr514=) c.1888T= (p.Tyr630=) c.1996T= (p.Tyr666=) c.1960T= (p.Tyr654=) c.1918T= (p.Tyr640=) c.1679+6159T= (n.1679+6159T=) c.2014T= (p.Tyr672=) c.2080T= (p.Tyr694=) c.2077T= (p.Tyr693=) c.2050T= (p.Tyr684=) c.1969T= (p.Tyr657=) c.1954T= (p.Tyr652=) c.1561T= (p.Tyr521=) c.2023T= (p.Tyr675=) c.1957T= (p.Tyr653=) c.1915T= (p.Tyr639=) c.988T= (p.Tyr330=) | |
20 | g.63407291A>C | CA409639296 | KCNQ2 | c.2026T>G (p.Tyr676Asp) c.1972T>G (p.Tyr658Asp) c.1369T>G (p.Tyr457Asp) c.1879T>G (p.Tyr627Asp) c.1540T>G (p.Tyr514Asp) c.1888T>G (p.Tyr630Asp) c.1996T>G (p.Tyr666Asp) c.1960T>G (p.Tyr654Asp) c.1918T>G (p.Tyr640Asp) c.1679+6159T>G (n.1679+6159T>G) c.2014T>G (p.Tyr672Asp) c.2080T>G (p.Tyr694Asp) c.2077T>G (p.Tyr693Asp) c.2050T>G (p.Tyr684Asp) c.1969T>G (p.Tyr657Asp) c.1954T>G (p.Tyr652Asp) c.1561T>G (p.Tyr521Asp) c.2023T>G (p.Tyr675Asp) c.1957T>G (p.Tyr653Asp) c.1915T>G (p.Tyr639Asp) c.988T>G (p.Tyr330Asp) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407291A>G | CA409639301 | KCNQ2 | c.2026T>C (p.Tyr676His) c.1972T>C (p.Tyr658His) c.1369T>C (p.Tyr457His) c.1879T>C (p.Tyr627His) c.1540T>C (p.Tyr514His) c.1888T>C (p.Tyr630His) c.1996T>C (p.Tyr666His) c.1960T>C (p.Tyr654His) c.1918T>C (p.Tyr640His) c.1679+6159T>C (n.1679+6159T>C) c.2014T>C (p.Tyr672His) c.2080T>C (p.Tyr694His) c.2077T>C (p.Tyr693His) c.2050T>C (p.Tyr684His) c.1969T>C (p.Tyr657His) c.1954T>C (p.Tyr652His) c.1561T>C (p.Tyr521His) c.2023T>C (p.Tyr675His) c.1957T>C (p.Tyr653His) c.1915T>C (p.Tyr639His) c.988T>C (p.Tyr330His) | gnomAD v4 |
20 | g.63407291A>T | CA409639303 | KCNQ2 | c.2026T>A (p.Tyr676Asn) c.1972T>A (p.Tyr658Asn) c.1369T>A (p.Tyr457Asn) c.1879T>A (p.Tyr627Asn) c.1540T>A (p.Tyr514Asn) c.1888T>A (p.Tyr630Asn) c.1996T>A (p.Tyr666Asn) c.1960T>A (p.Tyr654Asn) c.1918T>A (p.Tyr640Asn) c.1679+6159T>A (n.1679+6159T>A) c.2014T>A (p.Tyr672Asn) c.2080T>A (p.Tyr694Asn) c.2077T>A (p.Tyr693Asn) c.2050T>A (p.Tyr684Asn) c.1969T>A (p.Tyr657Asn) c.1954T>A (p.Tyr652Asn) c.1561T>A (p.Tyr521Asn) c.2023T>A (p.Tyr675Asn) c.1957T>A (p.Tyr653Asn) c.1915T>A (p.Tyr639Asn) c.988T>A (p.Tyr330Asn) | |
20 | g.63407292G>A | CA511339551 | KCNQ2 | c.2025C>T (p.Ala675=) c.1971C>T (p.Ala657=) c.1368C>T (p.Ala456=) c.1878C>T (p.Ala626=) c.1539C>T (p.Ala513=) c.1887C>T (p.Ala629=) c.1995C>T (p.Ala665=) c.1959C>T (p.Ala653=) c.1917C>T (p.Ala639=) c.1679+6158C>T (n.1679+6158C>T) c.2013C>T (p.Ala671=) c.2079C>T (p.Ala693=) c.2076C>T (p.Ala692=) c.2049C>T (p.Ala683=) c.1968C>T (p.Ala656=) c.1953C>T (p.Ala651=) c.1560C>T (p.Ala520=) c.2022C>T (p.Ala674=) c.1956C>T (p.Ala652=) c.1914C>T (p.Ala638=) c.987C>T (p.Ala329=) | |
20 | g.63407292G>C | CA511339549 | KCNQ2 | c.2025C>G (p.Ala675=) c.1971C>G (p.Ala657=) c.1368C>G (p.Ala456=) c.1878C>G (p.Ala626=) c.1539C>G (p.Ala513=) c.1887C>G (p.Ala629=) c.1995C>G (p.Ala665=) c.1959C>G (p.Ala653=) c.1917C>G (p.Ala639=) c.1679+6158C>G (n.1679+6158C>G) c.2013C>G (p.Ala671=) c.2079C>G (p.Ala693=) c.2076C>G (p.Ala692=) c.2049C>G (p.Ala683=) c.1968C>G (p.Ala656=) c.1953C>G (p.Ala651=) c.1560C>G (p.Ala520=) c.2022C>G (p.Ala674=) c.1956C>G (p.Ala652=) c.1914C>G (p.Ala638=) c.987C>G (p.Ala329=) | |
20 | g.63407292G>T | CA511339550 | KCNQ2 | c.2025C>A (p.Ala675=) c.1971C>A (p.Ala657=) c.1368C>A (p.Ala456=) c.1878C>A (p.Ala626=) c.1539C>A (p.Ala513=) c.1887C>A (p.Ala629=) c.1995C>A (p.Ala665=) c.1959C>A (p.Ala653=) c.1917C>A (p.Ala639=) c.1679+6158C>A (n.1679+6158C>A) c.2013C>A (p.Ala671=) c.2079C>A (p.Ala693=) c.2076C>A (p.Ala692=) c.2049C>A (p.Ala683=) c.1968C>A (p.Ala656=) c.1953C>A (p.Ala651=) c.1560C>A (p.Ala520=) c.2022C>A (p.Ala674=) c.1956C>A (p.Ala652=) c.1914C>A (p.Ala638=) c.987C>A (p.Ala329=) | |
20 | g.63407293G>A | CA409639309 | KCNQ2 | c.2024C>T (p.Ala675Val) c.1970C>T (p.Ala657Val) c.1367C>T (p.Ala456Val) c.1877C>T (p.Ala626Val) c.1538C>T (p.Ala513Val) c.1886C>T (p.Ala629Val) c.1994C>T (p.Ala665Val) c.1958C>T (p.Ala653Val) c.1916C>T (p.Ala639Val) c.1679+6157C>T (n.1679+6157C>T) c.2012C>T (p.Ala671Val) c.2078C>T (p.Ala693Val) c.2075C>T (p.Ala692Val) c.2048C>T (p.Ala683Val) c.1967C>T (p.Ala656Val) c.1952C>T (p.Ala651Val) c.1559C>T (p.Ala520Val) c.2021C>T (p.Ala674Val) c.1955C>T (p.Ala652Val) c.1913C>T (p.Ala638Val) c.986C>T (p.Ala329Val) | |
20 | g.63407293G>C | CA409639306 | KCNQ2 | c.2024C>G (p.Ala675Gly) c.1970C>G (p.Ala657Gly) c.1367C>G (p.Ala456Gly) c.1877C>G (p.Ala626Gly) c.1538C>G (p.Ala513Gly) c.1886C>G (p.Ala629Gly) c.1994C>G (p.Ala665Gly) c.1958C>G (p.Ala653Gly) c.1916C>G (p.Ala639Gly) c.1679+6157C>G (n.1679+6157C>G) c.2012C>G (p.Ala671Gly) c.2078C>G (p.Ala693Gly) c.2075C>G (p.Ala692Gly) c.2048C>G (p.Ala683Gly) c.1967C>G (p.Ala656Gly) c.1952C>G (p.Ala651Gly) c.1559C>G (p.Ala520Gly) c.2021C>G (p.Ala674Gly) c.1955C>G (p.Ala652Gly) c.1913C>G (p.Ala638Gly) c.986C>G (p.Ala329Gly) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63407293G>T | CA409639308 | KCNQ2 | c.2024C>A (p.Ala675Asp) c.1970C>A (p.Ala657Asp) c.1367C>A (p.Ala456Asp) c.1877C>A (p.Ala626Asp) c.1538C>A (p.Ala513Asp) c.1886C>A (p.Ala629Asp) c.1994C>A (p.Ala665Asp) c.1958C>A (p.Ala653Asp) c.1916C>A (p.Ala639Asp) c.1679+6157C>A (n.1679+6157C>A) c.2012C>A (p.Ala671Asp) c.2078C>A (p.Ala693Asp) c.2075C>A (p.Ala692Asp) c.2048C>A (p.Ala683Asp) c.1967C>A (p.Ala656Asp) c.1952C>A (p.Ala651Asp) c.1559C>A (p.Ala520Asp) c.2021C>A (p.Ala674Asp) c.1955C>A (p.Ala652Asp) c.1913C>A (p.Ala638Asp) c.986C>A (p.Ala329Asp) | |
20 | g.63407294C>A | CA409639313 | KCNQ2 | c.2023G>T (p.Ala675Ser) c.1969G>T (p.Ala657Ser) c.1366G>T (p.Ala456Ser) c.1876G>T (p.Ala626Ser) c.1537G>T (p.Ala513Ser) c.1885G>T (p.Ala629Ser) c.1993G>T (p.Ala665Ser) c.1957G>T (p.Ala653Ser) c.1915G>T (p.Ala639Ser) c.1679+6156G>T (n.1679+6156G>T) c.2011G>T (p.Ala671Ser) c.2077G>T (p.Ala693Ser) c.2074G>T (p.Ala692Ser) c.2047G>T (p.Ala683Ser) c.1966G>T (p.Ala656Ser) c.1951G>T (p.Ala651Ser) c.1558G>T (p.Ala520Ser) c.2020G>T (p.Ala674Ser) c.1954G>T (p.Ala652Ser) c.1912G>T (p.Ala638Ser) c.985G>T (p.Ala329Ser) | |
20 | g.63407294C= | CA2374774530 | KCNQ2 | c.2023G= (p.Ala675=) c.1969G= (p.Ala657=) c.1366G= (p.Ala456=) c.1876G= (p.Ala626=) c.1537G= (p.Ala513=) c.1885G= (p.Ala629=) c.1993G= (p.Ala665=) c.1957G= (p.Ala653=) c.1915G= (p.Ala639=) c.1679+6156G= (n.1679+6156G=) c.2011G= (p.Ala671=) c.2077G= (p.Ala693=) c.2074G= (p.Ala692=) c.2047G= (p.Ala683=) c.1966G= (p.Ala656=) c.1951G= (p.Ala651=) c.1558G= (p.Ala520=) c.2020G= (p.Ala674=) c.1954G= (p.Ala652=) c.1912G= (p.Ala638=) c.985G= (p.Ala329=) | |
20 | g.63407294C>G | CA409639314 | KCNQ2 | c.2023G>C (p.Ala675Pro) c.1969G>C (p.Ala657Pro) c.1366G>C (p.Ala456Pro) c.1876G>C (p.Ala626Pro) c.1537G>C (p.Ala513Pro) c.1885G>C (p.Ala629Pro) c.1993G>C (p.Ala665Pro) c.1957G>C (p.Ala653Pro) c.1915G>C (p.Ala639Pro) c.1679+6156G>C (n.1679+6156G>C) c.2011G>C (p.Ala671Pro) c.2077G>C (p.Ala693Pro) c.2074G>C (p.Ala692Pro) c.2047G>C (p.Ala683Pro) c.1966G>C (p.Ala656Pro) c.1951G>C (p.Ala651Pro) c.1558G>C (p.Ala520Pro) c.2020G>C (p.Ala674Pro) c.1954G>C (p.Ala652Pro) c.1912G>C (p.Ala638Pro) c.985G>C (p.Ala329Pro) | |
20 | g.63407294C>T | CA9958184 | KCNQ2 | c.2023G>A (p.Ala675Thr) c.1969G>A (p.Ala657Thr) c.1366G>A (p.Ala456Thr) c.1876G>A (p.Ala626Thr) c.1537G>A (p.Ala513Thr) c.1885G>A (p.Ala629Thr) c.1993G>A (p.Ala665Thr) c.1957G>A (p.Ala653Thr) c.1915G>A (p.Ala639Thr) c.1679+6156G>A (n.1679+6156G>A) c.2011G>A (p.Ala671Thr) c.2077G>A (p.Ala693Thr) c.2074G>A (p.Ala692Thr) c.2047G>A (p.Ala683Thr) c.1966G>A (p.Ala656Thr) c.1951G>A (p.Ala651Thr) c.1558G>A (p.Ala520Thr) c.2020G>A (p.Ala674Thr) c.1954G>A (p.Ala652Thr) c.1912G>A (p.Ala638Thr) c.985G>A (p.Ala329Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407295C>A | CA409639315 | KCNQ2 | c.2022G>T (p.Glu674Asp) c.1968G>T (p.Glu656Asp) c.1365G>T (p.Glu455Asp) c.1875G>T (p.Glu625Asp) c.1536G>T (p.Glu512Asp) c.1884G>T (p.Glu628Asp) c.1992G>T (p.Glu664Asp) c.1956G>T (p.Glu652Asp) c.1914G>T (p.Glu638Asp) c.1679+6155G>T (n.1679+6155G>T) c.2010G>T (p.Glu670Asp) c.2076G>T (p.Glu692Asp) c.2073G>T (p.Glu691Asp) c.2046G>T (p.Glu682Asp) c.1965G>T (p.Glu655Asp) c.1950G>T (p.Glu650Asp) c.1557G>T (p.Glu519Asp) c.2019G>T (p.Glu673Asp) c.1953G>T (p.Glu651Asp) c.1911G>T (p.Glu637Asp) c.984G>T (p.Glu328Asp) | |
20 | g.63407295C= | CA2374774531 | KCNQ2 | c.2022G= (p.Glu674=) c.1968G= (p.Glu656=) c.1365G= (p.Glu455=) c.1875G= (p.Glu625=) c.1536G= (p.Glu512=) c.1884G= (p.Glu628=) c.1992G= (p.Glu664=) c.1956G= (p.Glu652=) c.1914G= (p.Glu638=) c.1679+6155G= (n.1679+6155G=) c.2010G= (p.Glu670=) c.2076G= (p.Glu692=) c.2073G= (p.Glu691=) c.2046G= (p.Glu682=) c.1965G= (p.Glu655=) c.1950G= (p.Glu650=) c.1557G= (p.Glu519=) c.2019G= (p.Glu673=) c.1953G= (p.Glu651=) c.1911G= (p.Glu637=) c.984G= (p.Glu328=) | |
20 | g.63407295C>G | CA409639316 | KCNQ2 | c.2022G>C (p.Glu674Asp) c.1968G>C (p.Glu656Asp) c.1365G>C (p.Glu455Asp) c.1875G>C (p.Glu625Asp) c.1536G>C (p.Glu512Asp) c.1884G>C (p.Glu628Asp) c.1992G>C (p.Glu664Asp) c.1956G>C (p.Glu652Asp) c.1914G>C (p.Glu638Asp) c.1679+6155G>C (n.1679+6155G>C) c.2010G>C (p.Glu670Asp) c.2076G>C (p.Glu692Asp) c.2073G>C (p.Glu691Asp) c.2046G>C (p.Glu682Asp) c.1965G>C (p.Glu655Asp) c.1950G>C (p.Glu650Asp) c.1557G>C (p.Glu519Asp) c.2019G>C (p.Glu673Asp) c.1953G>C (p.Glu651Asp) c.1911G>C (p.Glu637Asp) c.984G>C (p.Glu328Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.63407295C>T | CA511339552 | KCNQ2 | c.2022G>A (p.Glu674=) c.1968G>A (p.Glu656=) c.1365G>A (p.Glu455=) c.1875G>A (p.Glu625=) c.1536G>A (p.Glu512=) c.1884G>A (p.Glu628=) c.1992G>A (p.Glu664=) c.1956G>A (p.Glu652=) c.1914G>A (p.Glu638=) c.1679+6155G>A (n.1679+6155G>A) c.2010G>A (p.Glu670=) c.2076G>A (p.Glu692=) c.2073G>A (p.Glu691=) c.2046G>A (p.Glu682=) c.1965G>A (p.Glu655=) c.1950G>A (p.Glu650=) c.1557G>A (p.Glu519=) c.2019G>A (p.Glu673=) c.1953G>A (p.Glu651=) c.1911G>A (p.Glu637=) c.984G>A (p.Glu328=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407296T>A | CA409639317 | KCNQ2 | c.2021A>T (p.Glu674Val) c.1967A>T (p.Glu656Val) c.1364A>T (p.Glu455Val) c.1874A>T (p.Glu625Val) c.1535A>T (p.Glu512Val) c.1883A>T (p.Glu628Val) c.1991A>T (p.Glu664Val) c.1955A>T (p.Glu652Val) c.1913A>T (p.Glu638Val) c.1679+6154A>T (n.1679+6154A>T) c.2009A>T (p.Glu670Val) c.2075A>T (p.Glu692Val) c.2072A>T (p.Glu691Val) c.2045A>T (p.Glu682Val) c.1964A>T (p.Glu655Val) c.1949A>T (p.Glu650Val) c.1556A>T (p.Glu519Val) c.2018A>T (p.Glu673Val) c.1952A>T (p.Glu651Val) c.1910A>T (p.Glu637Val) c.983A>T (p.Glu328Val) | |
20 | g.63407296T>C | CA409639318 | KCNQ2 | c.2021A>G (p.Glu674Gly) c.1967A>G (p.Glu656Gly) c.1364A>G (p.Glu455Gly) c.1874A>G (p.Glu625Gly) c.1535A>G (p.Glu512Gly) c.1883A>G (p.Glu628Gly) c.1991A>G (p.Glu664Gly) c.1955A>G (p.Glu652Gly) c.1913A>G (p.Glu638Gly) c.1679+6154A>G (n.1679+6154A>G) c.2009A>G (p.Glu670Gly) c.2075A>G (p.Glu692Gly) c.2072A>G (p.Glu691Gly) c.2045A>G (p.Glu682Gly) c.1964A>G (p.Glu655Gly) c.1949A>G (p.Glu650Gly) c.1556A>G (p.Glu519Gly) c.2018A>G (p.Glu673Gly) c.1952A>G (p.Glu651Gly) c.1910A>G (p.Glu637Gly) c.983A>G (p.Glu328Gly) | dbSNP |
20 | g.63407296T>G | CA409639319 | KCNQ2 | c.2021A>C (p.Glu674Ala) c.1967A>C (p.Glu656Ala) c.1364A>C (p.Glu455Ala) c.1874A>C (p.Glu625Ala) c.1535A>C (p.Glu512Ala) c.1883A>C (p.Glu628Ala) c.1991A>C (p.Glu664Ala) c.1955A>C (p.Glu652Ala) c.1913A>C (p.Glu638Ala) c.1679+6154A>C (n.1679+6154A>C) c.2009A>C (p.Glu670Ala) c.2075A>C (p.Glu692Ala) c.2072A>C (p.Glu691Ala) c.2045A>C (p.Glu682Ala) c.1964A>C (p.Glu655Ala) c.1949A>C (p.Glu650Ala) c.1556A>C (p.Glu519Ala) c.2018A>C (p.Glu673Ala) c.1952A>C (p.Glu651Ala) c.1910A>C (p.Glu637Ala) c.983A>C (p.Glu328Ala) | |
20 | g.63407296T= | CA2374774532 | KCNQ2 | c.2021A= (p.Glu674=) c.1967A= (p.Glu656=) c.1364A= (p.Glu455=) c.1874A= (p.Glu625=) c.1535A= (p.Glu512=) c.1883A= (p.Glu628=) c.1991A= (p.Glu664=) c.1955A= (p.Glu652=) c.1913A= (p.Glu638=) c.1679+6154A= (n.1679+6154A=) c.2009A= (p.Glu670=) c.2075A= (p.Glu692=) c.2072A= (p.Glu691=) c.2045A= (p.Glu682=) c.1964A= (p.Glu655=) c.1949A= (p.Glu650=) c.1556A= (p.Glu519=) c.2018A= (p.Glu673=) c.1952A= (p.Glu651=) c.1910A= (p.Glu637=) c.983A= (p.Glu328=) | |
20 | g.63407297del | CA2499225802 | KCNQ2 | c.2020del (p.Glu674ArgfsTer?) c.1966del (p.Glu656ArgfsTer?) c.1363del (p.Glu455ArgfsTer?) c.1873del (p.Glu625ArgfsTer?) c.1534del (p.Glu512ArgfsTer?) c.1882del (p.Glu628ArgfsTer?) c.1990del (p.Glu664ArgfsTer?) c.1954del (p.Glu652ArgfsTer?) c.1912del (p.Glu638ArgfsTer?) c.1679+6153del (n.1679+6153del) c.2008del (p.Glu670ArgfsTer?) c.2074del (p.Glu692ArgfsTer?) c.2071del (p.Glu691ArgfsTer?) c.2044del (p.Glu682ArgfsTer?) c.1963del (p.Glu655ArgfsTer?) c.1948del (p.Glu650ArgfsTer?) c.1555del (p.Glu519ArgfsTer?) c.2017del (p.Glu673ArgfsTer?) c.1951del (p.Glu651ArgfsTer?) c.1909del (p.Glu637ArgfsTer?) c.982del (p.Glu328ArgfsTer?) | ClinVar dbSNP |
20 | g.63407297C>A | CA409639320 | KCNQ2 | c.2020G>T (p.Glu674Ter) c.1966G>T (p.Glu656Ter) c.1363G>T (p.Glu455Ter) c.1873G>T (p.Glu625Ter) c.1534G>T (p.Glu512Ter) c.1882G>T (p.Glu628Ter) c.1990G>T (p.Glu664Ter) c.1954G>T (p.Glu652Ter) c.1912G>T (p.Glu638Ter) c.1679+6153G>T (n.1679+6153G>T) c.2008G>T (p.Glu670Ter) c.2074G>T (p.Glu692Ter) c.2071G>T (p.Glu691Ter) c.2044G>T (p.Glu682Ter) c.1963G>T (p.Glu655Ter) c.1948G>T (p.Glu650Ter) c.1555G>T (p.Glu519Ter) c.2017G>T (p.Glu673Ter) c.1951G>T (p.Glu651Ter) c.1909G>T (p.Glu637Ter) c.982G>T (p.Glu328Ter) | gnomAD v4 |
20 | g.63407297C= | CA2374774533 | KCNQ2 | c.2020G= (p.Glu674=) c.1966G= (p.Glu656=) c.1363G= (p.Glu455=) c.1873G= (p.Glu625=) c.1534G= (p.Glu512=) c.1882G= (p.Glu628=) c.1990G= (p.Glu664=) c.1954G= (p.Glu652=) c.1912G= (p.Glu638=) c.1679+6153G= (n.1679+6153G=) c.2008G= (p.Glu670=) c.2074G= (p.Glu692=) c.2071G= (p.Glu691=) c.2044G= (p.Glu682=) c.1963G= (p.Glu655=) c.1948G= (p.Glu650=) c.1555G= (p.Glu519=) c.2017G= (p.Glu673=) c.1951G= (p.Glu651=) c.1909G= (p.Glu637=) c.982G= (p.Glu328=) | |
20 | g.63407297C>G | CA409639321 | KCNQ2 | c.2020G>C (p.Glu674Gln) c.1966G>C (p.Glu656Gln) c.1363G>C (p.Glu455Gln) c.1873G>C (p.Glu625Gln) c.1534G>C (p.Glu512Gln) c.1882G>C (p.Glu628Gln) c.1990G>C (p.Glu664Gln) c.1954G>C (p.Glu652Gln) c.1912G>C (p.Glu638Gln) c.1679+6153G>C (n.1679+6153G>C) c.2008G>C (p.Glu670Gln) c.2074G>C (p.Glu692Gln) c.2071G>C (p.Glu691Gln) c.2044G>C (p.Glu682Gln) c.1963G>C (p.Glu655Gln) c.1948G>C (p.Glu650Gln) c.1555G>C (p.Glu519Gln) c.2017G>C (p.Glu673Gln) c.1951G>C (p.Glu651Gln) c.1909G>C (p.Glu637Gln) c.982G>C (p.Glu328Gln) | |
20 | g.63407297C>T | CA9958185 | KCNQ2 | c.2020G>A (p.Glu674Lys) c.1966G>A (p.Glu656Lys) c.1363G>A (p.Glu455Lys) c.1873G>A (p.Glu625Lys) c.1534G>A (p.Glu512Lys) c.1882G>A (p.Glu628Lys) c.1990G>A (p.Glu664Lys) c.1954G>A (p.Glu652Lys) c.1912G>A (p.Glu638Lys) c.1679+6153G>A (n.1679+6153G>A) c.2008G>A (p.Glu670Lys) c.2074G>A (p.Glu692Lys) c.2071G>A (p.Glu691Lys) c.2044G>A (p.Glu682Lys) c.1963G>A (p.Glu655Lys) c.1948G>A (p.Glu650Lys) c.1555G>A (p.Glu519Lys) c.2017G>A (p.Glu673Lys) c.1951G>A (p.Glu651Lys) c.1909G>A (p.Glu637Lys) c.982G>A (p.Glu328Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407298G>A | CA9958186 | KCNQ2 | c.2019C>T (p.Thr673=) c.1965C>T (p.Thr655=) c.1362C>T (p.Thr454=) c.1872C>T (p.Thr624=) c.1533C>T (p.Thr511=) c.1881C>T (p.Thr627=) c.1989C>T (p.Thr663=) c.1953C>T (p.Thr651=) c.1911C>T (p.Thr637=) c.1679+6152C>T (n.1679+6152C>T) c.2007C>T (p.Thr669=) c.2073C>T (p.Thr691=) c.2070C>T (p.Thr690=) c.2043C>T (p.Thr681=) c.1962C>T (p.Thr654=) c.1947C>T (p.Thr649=) c.1554C>T (p.Thr518=) c.2016C>T (p.Thr672=) c.1950C>T (p.Thr650=) c.1908C>T (p.Thr636=) c.981C>T (p.Thr327=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407298G>C | CA511339553 | KCNQ2 | c.2019C>G (p.Thr673=) c.1965C>G (p.Thr655=) c.1362C>G (p.Thr454=) c.1872C>G (p.Thr624=) c.1533C>G (p.Thr511=) c.1881C>G (p.Thr627=) c.1989C>G (p.Thr663=) c.1953C>G (p.Thr651=) c.1911C>G (p.Thr637=) c.1679+6152C>G (n.1679+6152C>G) c.2007C>G (p.Thr669=) c.2073C>G (p.Thr691=) c.2070C>G (p.Thr690=) c.2043C>G (p.Thr681=) c.1962C>G (p.Thr654=) c.1947C>G (p.Thr649=) c.1554C>G (p.Thr518=) c.2016C>G (p.Thr672=) c.1950C>G (p.Thr650=) c.1908C>G (p.Thr636=) c.981C>G (p.Thr327=) | dbSNP |
20 | g.63407298G= | CA2374774534 | KCNQ2 | c.2019C= (p.Thr673=) c.1965C= (p.Thr655=) c.1362C= (p.Thr454=) c.1872C= (p.Thr624=) c.1533C= (p.Thr511=) c.1881C= (p.Thr627=) c.1989C= (p.Thr663=) c.1953C= (p.Thr651=) c.1911C= (p.Thr637=) c.1679+6152C= (n.1679+6152C=) c.2007C= (p.Thr669=) c.2073C= (p.Thr691=) c.2070C= (p.Thr690=) c.2043C= (p.Thr681=) c.1962C= (p.Thr654=) c.1947C= (p.Thr649=) c.1554C= (p.Thr518=) c.2016C= (p.Thr672=) c.1950C= (p.Thr650=) c.1908C= (p.Thr636=) c.981C= (p.Thr327=) | |
20 | g.63407298G>T | CA511339554 | KCNQ2 | c.2019C>A (p.Thr673=) c.1965C>A (p.Thr655=) c.1362C>A (p.Thr454=) c.1872C>A (p.Thr624=) c.1533C>A (p.Thr511=) c.1881C>A (p.Thr627=) c.1989C>A (p.Thr663=) c.1953C>A (p.Thr651=) c.1911C>A (p.Thr637=) c.1679+6152C>A (n.1679+6152C>A) c.2007C>A (p.Thr669=) c.2073C>A (p.Thr691=) c.2070C>A (p.Thr690=) c.2043C>A (p.Thr681=) c.1962C>A (p.Thr654=) c.1947C>A (p.Thr649=) c.1554C>A (p.Thr518=) c.2016C>A (p.Thr672=) c.1950C>A (p.Thr650=) c.1908C>A (p.Thr636=) c.981C>A (p.Thr327=) | |
20 | g.63407299G>A | CA409639322 | KCNQ2 | c.2018C>T (p.Thr673Ile) c.1964C>T (p.Thr655Ile) c.1361C>T (p.Thr454Ile) c.1871C>T (p.Thr624Ile) c.1532C>T (p.Thr511Ile) c.1880C>T (p.Thr627Ile) c.1988C>T (p.Thr663Ile) c.1952C>T (p.Thr651Ile) c.1910C>T (p.Thr637Ile) c.1679+6151C>T (n.1679+6151C>T) c.2006C>T (p.Thr669Ile) c.2072C>T (p.Thr691Ile) c.2069C>T (p.Thr690Ile) c.2042C>T (p.Thr681Ile) c.1961C>T (p.Thr654Ile) c.1946C>T (p.Thr649Ile) c.1553C>T (p.Thr518Ile) c.2015C>T (p.Thr672Ile) c.1949C>T (p.Thr650Ile) c.1907C>T (p.Thr636Ile) c.980C>T (p.Thr327Ile) | dbSNP |
20 | g.63407299G>C | CA409639324 | KCNQ2 | c.2018C>G (p.Thr673Ser) c.1964C>G (p.Thr655Ser) c.1361C>G (p.Thr454Ser) c.1871C>G (p.Thr624Ser) c.1532C>G (p.Thr511Ser) c.1880C>G (p.Thr627Ser) c.1988C>G (p.Thr663Ser) c.1952C>G (p.Thr651Ser) c.1910C>G (p.Thr637Ser) c.1679+6151C>G (n.1679+6151C>G) c.2006C>G (p.Thr669Ser) c.2072C>G (p.Thr691Ser) c.2069C>G (p.Thr690Ser) c.2042C>G (p.Thr681Ser) c.1961C>G (p.Thr654Ser) c.1946C>G (p.Thr649Ser) c.1553C>G (p.Thr518Ser) c.2015C>G (p.Thr672Ser) c.1949C>G (p.Thr650Ser) c.1907C>G (p.Thr636Ser) c.980C>G (p.Thr327Ser) | |
20 | g.63407299G= | CA2374774535 | KCNQ2 | c.2018C= (p.Thr673=) c.1964C= (p.Thr655=) c.1361C= (p.Thr454=) c.1871C= (p.Thr624=) c.1532C= (p.Thr511=) c.1880C= (p.Thr627=) c.1988C= (p.Thr663=) c.1952C= (p.Thr651=) c.1910C= (p.Thr637=) c.1679+6151C= (n.1679+6151C=) c.2006C= (p.Thr669=) c.2072C= (p.Thr691=) c.2069C= (p.Thr690=) c.2042C= (p.Thr681=) c.1961C= (p.Thr654=) c.1946C= (p.Thr649=) c.1553C= (p.Thr518=) c.2015C= (p.Thr672=) c.1949C= (p.Thr650=) c.1907C= (p.Thr636=) c.980C= (p.Thr327=) | |
20 | g.63407299G>T | CA409639323 | KCNQ2 | c.2018C>A (p.Thr673Asn) c.1964C>A (p.Thr655Asn) c.1361C>A (p.Thr454Asn) c.1871C>A (p.Thr624Asn) c.1532C>A (p.Thr511Asn) c.1880C>A (p.Thr627Asn) c.1988C>A (p.Thr663Asn) c.1952C>A (p.Thr651Asn) c.1910C>A (p.Thr637Asn) c.1679+6151C>A (n.1679+6151C>A) c.2006C>A (p.Thr669Asn) c.2072C>A (p.Thr691Asn) c.2069C>A (p.Thr690Asn) c.2042C>A (p.Thr681Asn) c.1961C>A (p.Thr654Asn) c.1946C>A (p.Thr649Asn) c.1553C>A (p.Thr518Asn) c.2015C>A (p.Thr672Asn) c.1949C>A (p.Thr650Asn) c.1907C>A (p.Thr636Asn) c.980C>A (p.Thr327Asn) | ClinVar dbSNP gnomAD v4 |
20 | g.63407300T>A | CA409639325 | KCNQ2 | c.2017A>T (p.Thr673Ser) c.1963A>T (p.Thr655Ser) c.1360A>T (p.Thr454Ser) c.1870A>T (p.Thr624Ser) c.1531A>T (p.Thr511Ser) c.1879A>T (p.Thr627Ser) c.1987A>T (p.Thr663Ser) c.1951A>T (p.Thr651Ser) c.1909A>T (p.Thr637Ser) c.1679+6150A>T (n.1679+6150A>T) c.2005A>T (p.Thr669Ser) c.2071A>T (p.Thr691Ser) c.2068A>T (p.Thr690Ser) c.2041A>T (p.Thr681Ser) c.1960A>T (p.Thr654Ser) c.1945A>T (p.Thr649Ser) c.1552A>T (p.Thr518Ser) c.2014A>T (p.Thr672Ser) c.1948A>T (p.Thr650Ser) c.1906A>T (p.Thr636Ser) c.979A>T (p.Thr327Ser) | |
20 | g.63407300T>C | CA409639326 | KCNQ2 | c.2017A>G (p.Thr673Ala) c.1963A>G (p.Thr655Ala) c.1360A>G (p.Thr454Ala) c.1870A>G (p.Thr624Ala) c.1531A>G (p.Thr511Ala) c.1879A>G (p.Thr627Ala) c.1987A>G (p.Thr663Ala) c.1951A>G (p.Thr651Ala) c.1909A>G (p.Thr637Ala) c.1679+6150A>G (n.1679+6150A>G) c.2005A>G (p.Thr669Ala) c.2071A>G (p.Thr691Ala) c.2068A>G (p.Thr690Ala) c.2041A>G (p.Thr681Ala) c.1960A>G (p.Thr654Ala) c.1945A>G (p.Thr649Ala) c.1552A>G (p.Thr518Ala) c.2014A>G (p.Thr672Ala) c.1948A>G (p.Thr650Ala) c.1906A>G (p.Thr636Ala) c.979A>G (p.Thr327Ala) | ClinVar |
20 | g.63407300T>G | CA409639327 | KCNQ2 | c.2017A>C (p.Thr673Pro) c.1963A>C (p.Thr655Pro) c.1360A>C (p.Thr454Pro) c.1870A>C (p.Thr624Pro) c.1531A>C (p.Thr511Pro) c.1879A>C (p.Thr627Pro) c.1987A>C (p.Thr663Pro) c.1951A>C (p.Thr651Pro) c.1909A>C (p.Thr637Pro) c.1679+6150A>C (n.1679+6150A>C) c.2005A>C (p.Thr669Pro) c.2071A>C (p.Thr691Pro) c.2068A>C (p.Thr690Pro) c.2041A>C (p.Thr681Pro) c.1960A>C (p.Thr654Pro) c.1945A>C (p.Thr649Pro) c.1552A>C (p.Thr518Pro) c.2014A>C (p.Thr672Pro) c.1948A>C (p.Thr650Pro) c.1906A>C (p.Thr636Pro) c.979A>C (p.Thr327Pro) | |
20 | g.63407303_63407304del | CA2580616359 | KCNQ2 | c.2016_2017del (p.Glu672AspfsTer?) c.1962_1963del (p.Glu654AspfsTer?) c.1359_1360del (p.Glu453AspfsTer?) c.1869_1870del (p.Glu623AspfsTer?) c.1530_1531del (p.Glu510AspfsTer?) c.1878_1879del (p.Glu626AspfsTer?) c.1986_1987del (p.Glu662AspfsTer?) c.1950_1951del (p.Glu650AspfsTer?) c.1908_1909del (p.Glu636AspfsTer?) c.1679+6149_1679+6150del (n.1679+6149_1679+6150del) c.2004_2005del (p.Glu668AspfsTer?) c.2070_2071del (p.Glu690AspfsTer?) c.2067_2068del (p.Glu689AspfsTer?) c.2040_2041del (p.Glu680AspfsTer?) c.1959_1960del (p.Glu653AspfsTer?) c.1944_1945del (p.Glu648AspfsTer?) c.1551_1552del (p.Glu517AspfsTer?) c.2013_2014del (p.Glu671AspfsTer?) c.1947_1948del (p.Glu649AspfsTer?) c.1905_1906del (p.Glu635AspfsTer?) c.978_979del (p.Glu326AspfsTer?) | ClinVar |
20 | g.63407301C>A | CA409639328 | KCNQ2 | c.2016G>T (p.Glu672Asp) c.1962G>T (p.Glu654Asp) c.1359G>T (p.Glu453Asp) c.1869G>T (p.Glu623Asp) c.1530G>T (p.Glu510Asp) c.1878G>T (p.Glu626Asp) c.1986G>T (p.Glu662Asp) c.1950G>T (p.Glu650Asp) c.1908G>T (p.Glu636Asp) c.1679+6149G>T (n.1679+6149G>T) c.2004G>T (p.Glu668Asp) c.2070G>T (p.Glu690Asp) c.2067G>T (p.Glu689Asp) c.2040G>T (p.Glu680Asp) c.1959G>T (p.Glu653Asp) c.1944G>T (p.Glu648Asp) c.1551G>T (p.Glu517Asp) c.2013G>T (p.Glu671Asp) c.1947G>T (p.Glu649Asp) c.1905G>T (p.Glu635Asp) c.978G>T (p.Glu326Asp) | |
20 | g.63407301C>G | CA409639329 | KCNQ2 | c.2016G>C (p.Glu672Asp) c.1962G>C (p.Glu654Asp) c.1359G>C (p.Glu453Asp) c.1869G>C (p.Glu623Asp) c.1530G>C (p.Glu510Asp) c.1878G>C (p.Glu626Asp) c.1986G>C (p.Glu662Asp) c.1950G>C (p.Glu650Asp) c.1908G>C (p.Glu636Asp) c.1679+6149G>C (n.1679+6149G>C) c.2004G>C (p.Glu668Asp) c.2070G>C (p.Glu690Asp) c.2067G>C (p.Glu689Asp) c.2040G>C (p.Glu680Asp) c.1959G>C (p.Glu653Asp) c.1944G>C (p.Glu648Asp) c.1551G>C (p.Glu517Asp) c.2013G>C (p.Glu671Asp) c.1947G>C (p.Glu649Asp) c.1905G>C (p.Glu635Asp) c.978G>C (p.Glu326Asp) | gnomAD v4 |
20 | g.63407301C>T | CA511339555 | KCNQ2 | c.2016G>A (p.Glu672=) c.1962G>A (p.Glu654=) c.1359G>A (p.Glu453=) c.1869G>A (p.Glu623=) c.1530G>A (p.Glu510=) c.1878G>A (p.Glu626=) c.1986G>A (p.Glu662=) c.1950G>A (p.Glu650=) c.1908G>A (p.Glu636=) c.1679+6149G>A (n.1679+6149G>A) c.2004G>A (p.Glu668=) c.2070G>A (p.Glu690=) c.2067G>A (p.Glu689=) c.2040G>A (p.Glu680=) c.1959G>A (p.Glu653=) c.1944G>A (p.Glu648=) c.1551G>A (p.Glu517=) c.2013G>A (p.Glu671=) c.1947G>A (p.Glu649=) c.1905G>A (p.Glu635=) c.978G>A (p.Glu326=) | COSMIC COSMIC COSMIC |
20 | g.63407302T>A | CA409639330 | KCNQ2 | c.2015A>T (p.Glu672Val) c.1961A>T (p.Glu654Val) c.1358A>T (p.Glu453Val) c.1868A>T (p.Glu623Val) c.1529A>T (p.Glu510Val) c.1877A>T (p.Glu626Val) c.1985A>T (p.Glu662Val) c.1949A>T (p.Glu650Val) c.1907A>T (p.Glu636Val) c.1679+6148A>T (n.1679+6148A>T) c.2003A>T (p.Glu668Val) c.2069A>T (p.Glu690Val) c.2066A>T (p.Glu689Val) c.2039A>T (p.Glu680Val) c.1958A>T (p.Glu653Val) c.1943A>T (p.Glu648Val) c.1550A>T (p.Glu517Val) c.2012A>T (p.Glu671Val) c.1946A>T (p.Glu649Val) c.1904A>T (p.Glu635Val) c.977A>T (p.Glu326Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.63407302T>C | CA409639331 | KCNQ2 | c.2015A>G (p.Glu672Gly) c.1961A>G (p.Glu654Gly) c.1358A>G (p.Glu453Gly) c.1868A>G (p.Glu623Gly) c.1529A>G (p.Glu510Gly) c.1877A>G (p.Glu626Gly) c.1985A>G (p.Glu662Gly) c.1949A>G (p.Glu650Gly) c.1907A>G (p.Glu636Gly) c.1679+6148A>G (n.1679+6148A>G) c.2003A>G (p.Glu668Gly) c.2069A>G (p.Glu690Gly) c.2066A>G (p.Glu689Gly) c.2039A>G (p.Glu680Gly) c.1958A>G (p.Glu653Gly) c.1943A>G (p.Glu648Gly) c.1550A>G (p.Glu517Gly) c.2012A>G (p.Glu671Gly) c.1946A>G (p.Glu649Gly) c.1904A>G (p.Glu635Gly) c.977A>G (p.Glu326Gly) | |
20 | g.63407302T>G | CA409639332 | KCNQ2 | c.2015A>C (p.Glu672Ala) c.1961A>C (p.Glu654Ala) c.1358A>C (p.Glu453Ala) c.1868A>C (p.Glu623Ala) c.1529A>C (p.Glu510Ala) c.1877A>C (p.Glu626Ala) c.1985A>C (p.Glu662Ala) c.1949A>C (p.Glu650Ala) c.1907A>C (p.Glu636Ala) c.1679+6148A>C (n.1679+6148A>C) c.2003A>C (p.Glu668Ala) c.2069A>C (p.Glu690Ala) c.2066A>C (p.Glu689Ala) c.2039A>C (p.Glu680Ala) c.1958A>C (p.Glu653Ala) c.1943A>C (p.Glu648Ala) c.1550A>C (p.Glu517Ala) c.2012A>C (p.Glu671Ala) c.1946A>C (p.Glu649Ala) c.1904A>C (p.Glu635Ala) c.977A>C (p.Glu326Ala) | |
20 | g.63407302T= | CA2374774536 | KCNQ2 | c.2015A= (p.Glu672=) c.1961A= (p.Glu654=) c.1358A= (p.Glu453=) c.1868A= (p.Glu623=) c.1529A= (p.Glu510=) c.1877A= (p.Glu626=) c.1985A= (p.Glu662=) c.1949A= (p.Glu650=) c.1907A= (p.Glu636=) c.1679+6148A= (n.1679+6148A=) c.2003A= (p.Glu668=) c.2069A= (p.Glu690=) c.2066A= (p.Glu689=) c.2039A= (p.Glu680=) c.1958A= (p.Glu653=) c.1943A= (p.Glu648=) c.1550A= (p.Glu517=) c.2012A= (p.Glu671=) c.1946A= (p.Glu649=) c.1904A= (p.Glu635=) c.977A= (p.Glu326=) | |
20 | g.63407303C>A | CA409639333 | KCNQ2 | c.2014G>T (p.Glu672Ter) c.1960G>T (p.Glu654Ter) c.1357G>T (p.Glu453Ter) c.1867G>T (p.Glu623Ter) c.1528G>T (p.Glu510Ter) c.1876G>T (p.Glu626Ter) c.1984G>T (p.Glu662Ter) c.1948G>T (p.Glu650Ter) c.1906G>T (p.Glu636Ter) c.1679+6147G>T (n.1679+6147G>T) c.2002G>T (p.Glu668Ter) c.2068G>T (p.Glu690Ter) c.2065G>T (p.Glu689Ter) c.2038G>T (p.Glu680Ter) c.1957G>T (p.Glu653Ter) c.1942G>T (p.Glu648Ter) c.1549G>T (p.Glu517Ter) c.2011G>T (p.Glu671Ter) c.1945G>T (p.Glu649Ter) c.1903G>T (p.Glu635Ter) c.976G>T (p.Glu326Ter) | |
20 | g.63407303C>G | CA409639334 | KCNQ2 | c.2014G>C (p.Glu672Gln) c.1960G>C (p.Glu654Gln) c.1357G>C (p.Glu453Gln) c.1867G>C (p.Glu623Gln) c.1528G>C (p.Glu510Gln) c.1876G>C (p.Glu626Gln) c.1984G>C (p.Glu662Gln) c.1948G>C (p.Glu650Gln) c.1906G>C (p.Glu636Gln) c.1679+6147G>C (n.1679+6147G>C) c.2002G>C (p.Glu668Gln) c.2068G>C (p.Glu690Gln) c.2065G>C (p.Glu689Gln) c.2038G>C (p.Glu680Gln) c.1957G>C (p.Glu653Gln) c.1942G>C (p.Glu648Gln) c.1549G>C (p.Glu517Gln) c.2011G>C (p.Glu671Gln) c.1945G>C (p.Glu649Gln) c.1903G>C (p.Glu635Gln) c.976G>C (p.Glu326Gln) | |
20 | g.63407303C>T | CA409639335 | KCNQ2 | c.2014G>A (p.Glu672Lys) c.1960G>A (p.Glu654Lys) c.1357G>A (p.Glu453Lys) c.1867G>A (p.Glu623Lys) c.1528G>A (p.Glu510Lys) c.1876G>A (p.Glu626Lys) c.1984G>A (p.Glu662Lys) c.1948G>A (p.Glu650Lys) c.1906G>A (p.Glu636Lys) c.1679+6147G>A (n.1679+6147G>A) c.2002G>A (p.Glu668Lys) c.2068G>A (p.Glu690Lys) c.2065G>A (p.Glu689Lys) c.2038G>A (p.Glu680Lys) c.1957G>A (p.Glu653Lys) c.1942G>A (p.Glu648Lys) c.1549G>A (p.Glu517Lys) c.2011G>A (p.Glu671Lys) c.1945G>A (p.Glu649Lys) c.1903G>A (p.Glu635Lys) c.976G>A (p.Glu326Lys) | |
20 | g.63407304T>A | CA511339556 | KCNQ2 | c.2013A>T (p.Thr671=) c.1959A>T (p.Thr653=) c.1356A>T (p.Thr452=) c.1866A>T (p.Thr622=) c.1527A>T (p.Thr509=) c.1875A>T (p.Thr625=) c.1983A>T (p.Thr661=) c.1947A>T (p.Thr649=) c.1905A>T (p.Thr635=) c.1679+6146A>T (n.1679+6146A>T) c.2001A>T (p.Thr667=) c.2067A>T (p.Thr689=) c.2064A>T (p.Thr688=) c.2037A>T (p.Thr679=) c.1956A>T (p.Thr652=) c.1941A>T (p.Thr647=) c.1548A>T (p.Thr516=) c.2010A>T (p.Thr670=) c.1944A>T (p.Thr648=) c.1902A>T (p.Thr634=) c.975A>T (p.Thr325=) | |
20 | g.63407304T>C | CA9958187 | KCNQ2 | c.2013A>G (p.Thr671=) c.1959A>G (p.Thr653=) c.1356A>G (p.Thr452=) c.1866A>G (p.Thr622=) c.1527A>G (p.Thr509=) c.1875A>G (p.Thr625=) c.1983A>G (p.Thr661=) c.1947A>G (p.Thr649=) c.1905A>G (p.Thr635=) c.1679+6146A>G (n.1679+6146A>G) c.2001A>G (p.Thr667=) c.2067A>G (p.Thr689=) c.2064A>G (p.Thr688=) c.2037A>G (p.Thr679=) c.1956A>G (p.Thr652=) c.1941A>G (p.Thr647=) c.1548A>G (p.Thr516=) c.2010A>G (p.Thr670=) c.1944A>G (p.Thr648=) c.1902A>G (p.Thr634=) c.975A>G (p.Thr325=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407304T>G | CA511339557 | KCNQ2 | c.2013A>C (p.Thr671=) c.1959A>C (p.Thr653=) c.1356A>C (p.Thr452=) c.1866A>C (p.Thr622=) c.1527A>C (p.Thr509=) c.1875A>C (p.Thr625=) c.1983A>C (p.Thr661=) c.1947A>C (p.Thr649=) c.1905A>C (p.Thr635=) c.1679+6146A>C (n.1679+6146A>C) c.2001A>C (p.Thr667=) c.2067A>C (p.Thr689=) c.2064A>C (p.Thr688=) c.2037A>C (p.Thr679=) c.1956A>C (p.Thr652=) c.1941A>C (p.Thr647=) c.1548A>C (p.Thr516=) c.2010A>C (p.Thr670=) c.1944A>C (p.Thr648=) c.1902A>C (p.Thr634=) c.975A>C (p.Thr325=) | |
20 | g.63407304T= | CA2374774537 | KCNQ2 | c.2013A= (p.Thr671=) c.1959A= (p.Thr653=) c.1356A= (p.Thr452=) c.1866A= (p.Thr622=) c.1527A= (p.Thr509=) c.1875A= (p.Thr625=) c.1983A= (p.Thr661=) c.1947A= (p.Thr649=) c.1905A= (p.Thr635=) c.1679+6146A= (n.1679+6146A=) c.2001A= (p.Thr667=) c.2067A= (p.Thr689=) c.2064A= (p.Thr688=) c.2037A= (p.Thr679=) c.1956A= (p.Thr652=) c.1941A= (p.Thr647=) c.1548A= (p.Thr516=) c.2010A= (p.Thr670=) c.1944A= (p.Thr648=) c.1902A= (p.Thr634=) c.975A= (p.Thr325=) | |
20 | g.63407305G>A | CA409639338 | KCNQ2 | c.2012C>T (p.Thr671Ile) c.1958C>T (p.Thr653Ile) c.1355C>T (p.Thr452Ile) c.1865C>T (p.Thr622Ile) c.1526C>T (p.Thr509Ile) c.1874C>T (p.Thr625Ile) c.1982C>T (p.Thr661Ile) c.1946C>T (p.Thr649Ile) c.1904C>T (p.Thr635Ile) c.1679+6145C>T (n.1679+6145C>T) c.2000C>T (p.Thr667Ile) c.2066C>T (p.Thr689Ile) c.2063C>T (p.Thr688Ile) c.2036C>T (p.Thr679Ile) c.1955C>T (p.Thr652Ile) c.1940C>T (p.Thr647Ile) c.1547C>T (p.Thr516Ile) c.2009C>T (p.Thr670Ile) c.1943C>T (p.Thr648Ile) c.1901C>T (p.Thr634Ile) c.974C>T (p.Thr325Ile) | |
20 | g.63407305G>C | CA409639336 | KCNQ2 | c.2012C>G (p.Thr671Arg) c.1958C>G (p.Thr653Arg) c.1355C>G (p.Thr452Arg) c.1865C>G (p.Thr622Arg) c.1526C>G (p.Thr509Arg) c.1874C>G (p.Thr625Arg) c.1982C>G (p.Thr661Arg) c.1946C>G (p.Thr649Arg) c.1904C>G (p.Thr635Arg) c.1679+6145C>G (n.1679+6145C>G) c.2000C>G (p.Thr667Arg) c.2066C>G (p.Thr689Arg) c.2063C>G (p.Thr688Arg) c.2036C>G (p.Thr679Arg) c.1955C>G (p.Thr652Arg) c.1940C>G (p.Thr647Arg) c.1547C>G (p.Thr516Arg) c.2009C>G (p.Thr670Arg) c.1943C>G (p.Thr648Arg) c.1901C>G (p.Thr634Arg) c.974C>G (p.Thr325Arg) | ClinVar |
20 | g.63407305G>T | CA409639337 | KCNQ2 | c.2012C>A (p.Thr671Lys) c.1958C>A (p.Thr653Lys) c.1355C>A (p.Thr452Lys) c.1865C>A (p.Thr622Lys) c.1526C>A (p.Thr509Lys) c.1874C>A (p.Thr625Lys) c.1982C>A (p.Thr661Lys) c.1946C>A (p.Thr649Lys) c.1904C>A (p.Thr635Lys) c.1679+6145C>A (n.1679+6145C>A) c.2000C>A (p.Thr667Lys) c.2066C>A (p.Thr689Lys) c.2063C>A (p.Thr688Lys) c.2036C>A (p.Thr679Lys) c.1955C>A (p.Thr652Lys) c.1940C>A (p.Thr647Lys) c.1547C>A (p.Thr516Lys) c.2009C>A (p.Thr670Lys) c.1943C>A (p.Thr648Lys) c.1901C>A (p.Thr634Lys) c.974C>A (p.Thr325Lys) | |
20 | g.63407306T>A | CA409639339 | KCNQ2 | c.2011A>T (p.Thr671Ser) c.1957A>T (p.Thr653Ser) c.1354A>T (p.Thr452Ser) c.1864A>T (p.Thr622Ser) c.1525A>T (p.Thr509Ser) c.1873A>T (p.Thr625Ser) c.1981A>T (p.Thr661Ser) c.1945A>T (p.Thr649Ser) c.1903A>T (p.Thr635Ser) c.1679+6144A>T (n.1679+6144A>T) c.1999A>T (p.Thr667Ser) c.2065A>T (p.Thr689Ser) c.2062A>T (p.Thr688Ser) c.2035A>T (p.Thr679Ser) c.1954A>T (p.Thr652Ser) c.1939A>T (p.Thr647Ser) c.1546A>T (p.Thr516Ser) c.2008A>T (p.Thr670Ser) c.1942A>T (p.Thr648Ser) c.1900A>T (p.Thr634Ser) c.973A>T (p.Thr325Ser) | |
20 | g.63407306T>C | CA409639340 | KCNQ2 | c.2011A>G (p.Thr671Ala) c.1957A>G (p.Thr653Ala) c.1354A>G (p.Thr452Ala) c.1864A>G (p.Thr622Ala) c.1525A>G (p.Thr509Ala) c.1873A>G (p.Thr625Ala) c.1981A>G (p.Thr661Ala) c.1945A>G (p.Thr649Ala) c.1903A>G (p.Thr635Ala) c.1679+6144A>G (n.1679+6144A>G) c.1999A>G (p.Thr667Ala) c.2065A>G (p.Thr689Ala) c.2062A>G (p.Thr688Ala) c.2035A>G (p.Thr679Ala) c.1954A>G (p.Thr652Ala) c.1939A>G (p.Thr647Ala) c.1546A>G (p.Thr516Ala) c.2008A>G (p.Thr670Ala) c.1942A>G (p.Thr648Ala) c.1900A>G (p.Thr634Ala) c.973A>G (p.Thr325Ala) | |
20 | g.63407306T>G | CA409639341 | KCNQ2 | c.2011A>C (p.Thr671Pro) c.1957A>C (p.Thr653Pro) c.1354A>C (p.Thr452Pro) c.1864A>C (p.Thr622Pro) c.1525A>C (p.Thr509Pro) c.1873A>C (p.Thr625Pro) c.1981A>C (p.Thr661Pro) c.1945A>C (p.Thr649Pro) c.1903A>C (p.Thr635Pro) c.1679+6144A>C (n.1679+6144A>C) c.1999A>C (p.Thr667Pro) c.2065A>C (p.Thr689Pro) c.2062A>C (p.Thr688Pro) c.2035A>C (p.Thr679Pro) c.1954A>C (p.Thr652Pro) c.1939A>C (p.Thr647Pro) c.1546A>C (p.Thr516Pro) c.2008A>C (p.Thr670Pro) c.1942A>C (p.Thr648Pro) c.1900A>C (p.Thr634Pro) c.973A>C (p.Thr325Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407306T= | CA2374774539 | KCNQ2 | c.2011A= (p.Thr671=) c.1957A= (p.Thr653=) c.1354A= (p.Thr452=) c.1864A= (p.Thr622=) c.1525A= (p.Thr509=) c.1873A= (p.Thr625=) c.1981A= (p.Thr661=) c.1945A= (p.Thr649=) c.1903A= (p.Thr635=) c.1679+6144A= (n.1679+6144A=) c.1999A= (p.Thr667=) c.2065A= (p.Thr689=) c.2062A= (p.Thr688=) c.2035A= (p.Thr679=) c.1954A= (p.Thr652=) c.1939A= (p.Thr647=) c.1546A= (p.Thr516=) c.2008A= (p.Thr670=) c.1942A= (p.Thr648=) c.1900A= (p.Thr634=) c.973A= (p.Thr325=) | |
20 | g.63407306_63407307delinsTC | CA2374774538 | KCNQ2 | c.2010_2011delinsGA (p.Pro670=) c.1956_1957delinsGA (p.Pro652=) c.1353_1354delinsGA (p.Pro451=) c.1863_1864delinsGA (p.Pro621=) c.1524_1525delinsGA (p.Pro508=) c.1872_1873delinsGA (p.Pro624=) c.1980_1981delinsGA (p.Pro660=) c.1944_1945delinsGA (p.Pro648=) c.1902_1903delinsGA (p.Pro634=) c.1679+6143_1679+6144delinsGA (n.1679+6143_1679+6144delinsGA) c.1998_1999delinsGA (p.Pro666=) c.2064_2065delinsGA (p.Pro688=) c.2061_2062delinsGA (p.Pro687=) c.2034_2035delinsGA (p.Pro678=) c.1953_1954delinsGA (p.Pro651=) c.1938_1939delinsGA (p.Pro646=) c.1545_1546delinsGA (p.Pro515=) c.2007_2008delinsGA (p.Pro669=) c.1941_1942delinsGA (p.Pro647=) c.1899_1900delinsGA (p.Pro633=) c.972_973delinsGA (p.Pro324=) | |
20 | g.63407307del | CA342483 | KCNQ2 | c.2010del (p.Thr671GlnfsTer?) c.1956del (p.Thr653GlnfsTer?) c.1353del (p.Thr452GlnfsTer?) c.1863del (p.Thr622GlnfsTer?) c.1524del (p.Thr509GlnfsTer?) c.1872del (p.Thr625GlnfsTer?) c.1980del (p.Thr661GlnfsTer?) c.1944del (p.Thr649GlnfsTer?) c.1902del (p.Thr635GlnfsTer?) c.1679+6143del (n.1679+6143del) c.1998del (p.Thr667GlnfsTer?) c.2064del (p.Thr689GlnfsTer?) c.2061del (p.Thr688GlnfsTer?) c.2034del (p.Thr679GlnfsTer?) c.1953del (p.Thr652GlnfsTer?) c.1938del (p.Thr647GlnfsTer?) c.1545del (p.Thr516GlnfsTer?) c.2007del (p.Thr670GlnfsTer?) c.1941del (p.Thr648GlnfsTer?) c.1899del (p.Thr634GlnfsTer?) c.972del (p.Thr325GlnfsTer?) | ClinVar dbSNP |
20 | g.63407307C>A | CA511339560 | KCNQ2 | c.2010G>T (p.Pro670=) c.1956G>T (p.Pro652=) c.1353G>T (p.Pro451=) c.1863G>T (p.Pro621=) c.1524G>T (p.Pro508=) c.1872G>T (p.Pro624=) c.1980G>T (p.Pro660=) c.1944G>T (p.Pro648=) c.1902G>T (p.Pro634=) c.1679+6143G>T (n.1679+6143G>T) c.1998G>T (p.Pro666=) c.2064G>T (p.Pro688=) c.2061G>T (p.Pro687=) c.2034G>T (p.Pro678=) c.1953G>T (p.Pro651=) c.1938G>T (p.Pro646=) c.1545G>T (p.Pro515=) c.2007G>T (p.Pro669=) c.1941G>T (p.Pro647=) c.1899G>T (p.Pro633=) c.972G>T (p.Pro324=) | |
20 | g.63407307C= | CA2374774540 | KCNQ2 | c.2010G= (p.Pro670=) c.1956G= (p.Pro652=) c.1353G= (p.Pro451=) c.1863G= (p.Pro621=) c.1524G= (p.Pro508=) c.1872G= (p.Pro624=) c.1980G= (p.Pro660=) c.1944G= (p.Pro648=) c.1902G= (p.Pro634=) c.1679+6143G= (n.1679+6143G=) c.1998G= (p.Pro666=) c.2064G= (p.Pro688=) c.2061G= (p.Pro687=) c.2034G= (p.Pro678=) c.1953G= (p.Pro651=) c.1938G= (p.Pro646=) c.1545G= (p.Pro515=) c.2007G= (p.Pro669=) c.1941G= (p.Pro647=) c.1899G= (p.Pro633=) c.972G= (p.Pro324=) | |
20 | g.63407307C>G | CA511339561 | KCNQ2 | c.2010G>C (p.Pro670=) c.1956G>C (p.Pro652=) c.1353G>C (p.Pro451=) c.1863G>C (p.Pro621=) c.1524G>C (p.Pro508=) c.1872G>C (p.Pro624=) c.1980G>C (p.Pro660=) c.1944G>C (p.Pro648=) c.1902G>C (p.Pro634=) c.1679+6143G>C (n.1679+6143G>C) c.1998G>C (p.Pro666=) c.2064G>C (p.Pro688=) c.2061G>C (p.Pro687=) c.2034G>C (p.Pro678=) c.1953G>C (p.Pro651=) c.1938G>C (p.Pro646=) c.1545G>C (p.Pro515=) c.2007G>C (p.Pro669=) c.1941G>C (p.Pro647=) c.1899G>C (p.Pro633=) c.972G>C (p.Pro324=) | |
20 | g.63407307C>T | CA9958188 | KCNQ2 | c.2010G>A (p.Pro670=) c.1956G>A (p.Pro652=) c.1353G>A (p.Pro451=) c.1863G>A (p.Pro621=) c.1524G>A (p.Pro508=) c.1872G>A (p.Pro624=) c.1980G>A (p.Pro660=) c.1944G>A (p.Pro648=) c.1902G>A (p.Pro634=) c.1679+6143G>A (n.1679+6143G>A) c.1998G>A (p.Pro666=) c.2064G>A (p.Pro688=) c.2061G>A (p.Pro687=) c.2034G>A (p.Pro678=) c.1953G>A (p.Pro651=) c.1938G>A (p.Pro646=) c.1545G>A (p.Pro515=) c.2007G>A (p.Pro669=) c.1941G>A (p.Pro647=) c.1899G>A (p.Pro633=) c.972G>A (p.Pro324=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63407307dup | CA915952959 | KCNQ2 | c.2010dup (p.Thr671AspfsTer?) c.1956dup (p.Thr653AspfsTer?) c.1353dup (p.Thr452AspfsTer?) c.1863dup (p.Thr622AspfsTer?) c.1524dup (p.Thr509AspfsTer?) c.1872dup (p.Thr625AspfsTer?) c.1980dup (p.Thr661AspfsTer?) c.1944dup (p.Thr649AspfsTer?) c.1902dup (p.Thr635AspfsTer?) c.1679+6143dup (n.1679+6143dup) c.1998dup (p.Thr667AspfsTer?) c.2064dup (p.Thr689AspfsTer?) c.2061dup (p.Thr688AspfsTer?) c.2034dup (p.Thr679AspfsTer?) c.1953dup (p.Thr652AspfsTer?) c.1938dup (p.Thr647AspfsTer?) c.1545dup (p.Thr516AspfsTer?) c.2007dup (p.Thr670AspfsTer?) c.1941dup (p.Thr648AspfsTer?) c.1899dup (p.Thr634AspfsTer?) c.972dup (p.Thr325AspfsTer?) | ClinVar dbSNP |
20 | g.63407308G>A | CA090961 | KCNQ2 | c.2009C>T (p.Pro670Leu) c.1955C>T (p.Pro652Leu) c.1352C>T (p.Pro451Leu) c.1862C>T (p.Pro621Leu) c.1523C>T (p.Pro508Leu) c.1871C>T (p.Pro624Leu) c.1979C>T (p.Pro660Leu) c.1943C>T (p.Pro648Leu) c.1901C>T (p.Pro634Leu) c.1679+6142C>T (n.1679+6142C>T) c.1997C>T (p.Pro666Leu) c.2063C>T (p.Pro688Leu) c.2060C>T (p.Pro687Leu) c.2033C>T (p.Pro678Leu) c.1952C>T (p.Pro651Leu) c.1937C>T (p.Pro646Leu) c.1544C>T (p.Pro515Leu) c.2006C>T (p.Pro669Leu) c.1940C>T (p.Pro647Leu) c.1898C>T (p.Pro633Leu) c.971C>T (p.Pro324Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407308G>C | CA9958189 | KCNQ2 | c.2009C>G (p.Pro670Arg) c.1955C>G (p.Pro652Arg) c.1352C>G (p.Pro451Arg) c.1862C>G (p.Pro621Arg) c.1523C>G (p.Pro508Arg) c.1871C>G (p.Pro624Arg) c.1979C>G (p.Pro660Arg) c.1943C>G (p.Pro648Arg) c.1901C>G (p.Pro634Arg) c.1679+6142C>G (n.1679+6142C>G) c.1997C>G (p.Pro666Arg) c.2063C>G (p.Pro688Arg) c.2060C>G (p.Pro687Arg) c.2033C>G (p.Pro678Arg) c.1952C>G (p.Pro651Arg) c.1937C>G (p.Pro646Arg) c.1544C>G (p.Pro515Arg) c.2006C>G (p.Pro669Arg) c.1940C>G (p.Pro647Arg) c.1898C>G (p.Pro633Arg) c.971C>G (p.Pro324Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407308G= | CA2374774541 | KCNQ2 | c.2009C= (p.Pro670=) c.1955C= (p.Pro652=) c.1352C= (p.Pro451=) c.1862C= (p.Pro621=) c.1523C= (p.Pro508=) c.1871C= (p.Pro624=) c.1979C= (p.Pro660=) c.1943C= (p.Pro648=) c.1901C= (p.Pro634=) c.1679+6142C= (n.1679+6142C=) c.1997C= (p.Pro666=) c.2063C= (p.Pro688=) c.2060C= (p.Pro687=) c.2033C= (p.Pro678=) c.1952C= (p.Pro651=) c.1937C= (p.Pro646=) c.1544C= (p.Pro515=) c.2006C= (p.Pro669=) c.1940C= (p.Pro647=) c.1898C= (p.Pro633=) c.971C= (p.Pro324=) | |
20 | g.63407308G>T | CA9958190 | KCNQ2 | c.2009C>A (p.Pro670Gln) c.1955C>A (p.Pro652Gln) c.1352C>A (p.Pro451Gln) c.1862C>A (p.Pro621Gln) c.1523C>A (p.Pro508Gln) c.1871C>A (p.Pro624Gln) c.1979C>A (p.Pro660Gln) c.1943C>A (p.Pro648Gln) c.1901C>A (p.Pro634Gln) c.1679+6142C>A (n.1679+6142C>A) c.1997C>A (p.Pro666Gln) c.2063C>A (p.Pro688Gln) c.2060C>A (p.Pro687Gln) c.2033C>A (p.Pro678Gln) c.1952C>A (p.Pro651Gln) c.1937C>A (p.Pro646Gln) c.1544C>A (p.Pro515Gln) c.2006C>A (p.Pro669Gln) c.1940C>A (p.Pro647Gln) c.1898C>A (p.Pro633Gln) c.971C>A (p.Pro324Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407313dup | CA2653806166 | KCNQ2 | c.2009dup (p.Thr671AspfsTer?) c.1955dup (p.Thr653AspfsTer?) c.1352dup (p.Thr452AspfsTer?) c.1862dup (p.Thr622AspfsTer?) c.1523dup (p.Thr509AspfsTer?) c.1871dup (p.Thr625AspfsTer?) c.1979dup (p.Thr661AspfsTer?) c.1943dup (p.Thr649AspfsTer?) c.1901dup (p.Thr635AspfsTer?) c.1679+6142dup (n.1679+6142dup) c.1997dup (p.Thr667AspfsTer?) c.2063dup (p.Thr689AspfsTer?) c.2060dup (p.Thr688AspfsTer?) c.2033dup (p.Thr679AspfsTer?) c.1952dup (p.Thr652AspfsTer?) c.1937dup (p.Thr647AspfsTer?) c.1544dup (p.Thr516AspfsTer?) c.2006dup (p.Thr670AspfsTer?) c.1940dup (p.Thr648AspfsTer?) c.1898dup (p.Thr634AspfsTer?) c.971dup (p.Thr325AspfsTer?) | ClinVar gnomAD v4 |
20 | g.63407313del | CA645608744 | KCNQ2 | c.2009del (p.Pro670ArgfsTer?) c.1955del (p.Pro652ArgfsTer?) c.1352del (p.Pro451ArgfsTer?) c.1862del (p.Pro621ArgfsTer?) c.1523del (p.Pro508ArgfsTer?) c.1871del (p.Pro624ArgfsTer?) c.1979del (p.Pro660ArgfsTer?) c.1943del (p.Pro648ArgfsTer?) c.1901del (p.Pro634ArgfsTer?) c.1679+6142del (n.1679+6142del) c.1997del (p.Pro666ArgfsTer?) c.2063del (p.Pro688ArgfsTer?) c.2060del (p.Pro687ArgfsTer?) c.2033del (p.Pro678ArgfsTer?) c.1952del (p.Pro651ArgfsTer?) c.1937del (p.Pro646ArgfsTer?) c.1544del (p.Pro515ArgfsTer?) c.2006del (p.Pro669ArgfsTer?) c.1940del (p.Pro647ArgfsTer?) c.1898del (p.Pro633ArgfsTer?) c.971del (p.Pro324ArgfsTer?) | ClinVar gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407309G>A | CA409639342 | KCNQ2 | c.2008C>T (p.Pro670Ser) c.1954C>T (p.Pro652Ser) c.1351C>T (p.Pro451Ser) c.1861C>T (p.Pro621Ser) c.1522C>T (p.Pro508Ser) c.1870C>T (p.Pro624Ser) c.1978C>T (p.Pro660Ser) c.1942C>T (p.Pro648Ser) c.1900C>T (p.Pro634Ser) c.1679+6141C>T (n.1679+6141C>T) c.1996C>T (p.Pro666Ser) c.2062C>T (p.Pro688Ser) c.2059C>T (p.Pro687Ser) c.2032C>T (p.Pro678Ser) c.1951C>T (p.Pro651Ser) c.1936C>T (p.Pro646Ser) c.1543C>T (p.Pro515Ser) c.2005C>T (p.Pro669Ser) c.1939C>T (p.Pro647Ser) c.1897C>T (p.Pro633Ser) c.970C>T (p.Pro324Ser) | |
20 | g.63407309G>C | CA409639343 | KCNQ2 | c.2008C>G (p.Pro670Ala) c.1954C>G (p.Pro652Ala) c.1351C>G (p.Pro451Ala) c.1861C>G (p.Pro621Ala) c.1522C>G (p.Pro508Ala) c.1870C>G (p.Pro624Ala) c.1978C>G (p.Pro660Ala) c.1942C>G (p.Pro648Ala) c.1900C>G (p.Pro634Ala) c.1679+6141C>G (n.1679+6141C>G) c.1996C>G (p.Pro666Ala) c.2062C>G (p.Pro688Ala) c.2059C>G (p.Pro687Ala) c.2032C>G (p.Pro678Ala) c.1951C>G (p.Pro651Ala) c.1936C>G (p.Pro646Ala) c.1543C>G (p.Pro515Ala) c.2005C>G (p.Pro669Ala) c.1939C>G (p.Pro647Ala) c.1897C>G (p.Pro633Ala) c.970C>G (p.Pro324Ala) | |
20 | g.63407309G>T | CA409639344 | KCNQ2 | c.2008C>A (p.Pro670Thr) c.1954C>A (p.Pro652Thr) c.1351C>A (p.Pro451Thr) c.1861C>A (p.Pro621Thr) c.1522C>A (p.Pro508Thr) c.1870C>A (p.Pro624Thr) c.1978C>A (p.Pro660Thr) c.1942C>A (p.Pro648Thr) c.1900C>A (p.Pro634Thr) c.1679+6141C>A (n.1679+6141C>A) c.1996C>A (p.Pro666Thr) c.2062C>A (p.Pro688Thr) c.2059C>A (p.Pro687Thr) c.2032C>A (p.Pro678Thr) c.1951C>A (p.Pro651Thr) c.1936C>A (p.Pro646Thr) c.1543C>A (p.Pro515Thr) c.2005C>A (p.Pro669Thr) c.1939C>A (p.Pro647Thr) c.1897C>A (p.Pro633Thr) c.970C>A (p.Pro324Thr) | gnomAD v4 |
20 | g.63407310G>A | CA511339565 | KCNQ2 | c.2007C>T (p.Pro669=) c.1953C>T (p.Pro651=) c.1350C>T (p.Pro450=) c.1860C>T (p.Pro620=) c.1521C>T (p.Pro507=) c.1869C>T (p.Pro623=) c.1977C>T (p.Pro659=) c.1941C>T (p.Pro647=) c.1899C>T (p.Pro633=) c.1679+6140C>T (n.1679+6140C>T) c.1995C>T (p.Pro665=) c.2061C>T (p.Pro687=) c.2058C>T (p.Pro686=) c.2031C>T (p.Pro677=) c.1950C>T (p.Pro650=) c.1935C>T (p.Pro645=) c.1542C>T (p.Pro514=) c.2004C>T (p.Pro668=) c.1938C>T (p.Pro646=) c.1896C>T (p.Pro632=) c.969C>T (p.Pro323=) | |
20 | g.63407310G>C | CA511339563 | KCNQ2 | c.2007C>G (p.Pro669=) c.1953C>G (p.Pro651=) c.1350C>G (p.Pro450=) c.1860C>G (p.Pro620=) c.1521C>G (p.Pro507=) c.1869C>G (p.Pro623=) c.1977C>G (p.Pro659=) c.1941C>G (p.Pro647=) c.1899C>G (p.Pro633=) c.1679+6140C>G (n.1679+6140C>G) c.1995C>G (p.Pro665=) c.2061C>G (p.Pro687=) c.2058C>G (p.Pro686=) c.2031C>G (p.Pro677=) c.1950C>G (p.Pro650=) c.1935C>G (p.Pro645=) c.1542C>G (p.Pro514=) c.2004C>G (p.Pro668=) c.1938C>G (p.Pro646=) c.1896C>G (p.Pro632=) c.969C>G (p.Pro323=) | |
20 | g.63407310G>T | CA511339564 | KCNQ2 | c.2007C>A (p.Pro669=) c.1953C>A (p.Pro651=) c.1350C>A (p.Pro450=) c.1860C>A (p.Pro620=) c.1521C>A (p.Pro507=) c.1869C>A (p.Pro623=) c.1977C>A (p.Pro659=) c.1941C>A (p.Pro647=) c.1899C>A (p.Pro633=) c.1679+6140C>A (n.1679+6140C>A) c.1995C>A (p.Pro665=) c.2061C>A (p.Pro687=) c.2058C>A (p.Pro686=) c.2031C>A (p.Pro677=) c.1950C>A (p.Pro650=) c.1935C>A (p.Pro645=) c.1542C>A (p.Pro514=) c.2004C>A (p.Pro668=) c.1938C>A (p.Pro646=) c.1896C>A (p.Pro632=) c.969C>A (p.Pro323=) | ClinVar dbSNP gnomAD v4 |
20 | g.63407311G>A | CA409639346 | KCNQ2 | c.2006C>T (p.Pro669Leu) c.1952C>T (p.Pro651Leu) c.1349C>T (p.Pro450Leu) c.1859C>T (p.Pro620Leu) c.1520C>T (p.Pro507Leu) c.1868C>T (p.Pro623Leu) c.1976C>T (p.Pro659Leu) c.1940C>T (p.Pro647Leu) c.1898C>T (p.Pro633Leu) c.1679+6139C>T (n.1679+6139C>T) c.1994C>T (p.Pro665Leu) c.2060C>T (p.Pro687Leu) c.2057C>T (p.Pro686Leu) c.2030C>T (p.Pro677Leu) c.1949C>T (p.Pro650Leu) c.1934C>T (p.Pro645Leu) c.1541C>T (p.Pro514Leu) c.2003C>T (p.Pro668Leu) c.1937C>T (p.Pro646Leu) c.1895C>T (p.Pro632Leu) c.968C>T (p.Pro323Leu) | dbSNP |
20 | g.63407311G>C | CA409639347 | KCNQ2 | c.2006C>G (p.Pro669Arg) c.1952C>G (p.Pro651Arg) c.1349C>G (p.Pro450Arg) c.1859C>G (p.Pro620Arg) c.1520C>G (p.Pro507Arg) c.1868C>G (p.Pro623Arg) c.1976C>G (p.Pro659Arg) c.1940C>G (p.Pro647Arg) c.1898C>G (p.Pro633Arg) c.1679+6139C>G (n.1679+6139C>G) c.1994C>G (p.Pro665Arg) c.2060C>G (p.Pro687Arg) c.2057C>G (p.Pro686Arg) c.2030C>G (p.Pro677Arg) c.1949C>G (p.Pro650Arg) c.1934C>G (p.Pro645Arg) c.1541C>G (p.Pro514Arg) c.2003C>G (p.Pro668Arg) c.1937C>G (p.Pro646Arg) c.1895C>G (p.Pro632Arg) c.968C>G (p.Pro323Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407311G= | CA2374774542 | KCNQ2 | c.2006C= (p.Pro669=) c.1952C= (p.Pro651=) c.1349C= (p.Pro450=) c.1859C= (p.Pro620=) c.1520C= (p.Pro507=) c.1868C= (p.Pro623=) c.1976C= (p.Pro659=) c.1940C= (p.Pro647=) c.1898C= (p.Pro633=) c.1679+6139C= (n.1679+6139C=) c.1994C= (p.Pro665=) c.2060C= (p.Pro687=) c.2057C= (p.Pro686=) c.2030C= (p.Pro677=) c.1949C= (p.Pro650=) c.1934C= (p.Pro645=) c.1541C= (p.Pro514=) c.2003C= (p.Pro668=) c.1937C= (p.Pro646=) c.1895C= (p.Pro632=) c.968C= (p.Pro323=) | |
20 | g.63407311G>T | CA409639345 | KCNQ2 | c.2006C>A (p.Pro669His) c.1952C>A (p.Pro651His) c.1349C>A (p.Pro450His) c.1859C>A (p.Pro620His) c.1520C>A (p.Pro507His) c.1868C>A (p.Pro623His) c.1976C>A (p.Pro659His) c.1940C>A (p.Pro647His) c.1898C>A (p.Pro633His) c.1679+6139C>A (n.1679+6139C>A) c.1994C>A (p.Pro665His) c.2060C>A (p.Pro687His) c.2057C>A (p.Pro686His) c.2030C>A (p.Pro677His) c.1949C>A (p.Pro650His) c.1934C>A (p.Pro645His) c.1541C>A (p.Pro514His) c.2003C>A (p.Pro668His) c.1937C>A (p.Pro646His) c.1895C>A (p.Pro632His) c.968C>A (p.Pro323His) | gnomAD v4 |
20 | g.63407312G>A | CA409639350 | KCNQ2 | c.2005C>T (p.Pro669Ser) c.1951C>T (p.Pro651Ser) c.1348C>T (p.Pro450Ser) c.1858C>T (p.Pro620Ser) c.1519C>T (p.Pro507Ser) c.1867C>T (p.Pro623Ser) c.1975C>T (p.Pro659Ser) c.1939C>T (p.Pro647Ser) c.1897C>T (p.Pro633Ser) c.1679+6138C>T (n.1679+6138C>T) c.1993C>T (p.Pro665Ser) c.2059C>T (p.Pro687Ser) c.2056C>T (p.Pro686Ser) c.2029C>T (p.Pro677Ser) c.1948C>T (p.Pro650Ser) c.1933C>T (p.Pro645Ser) c.1540C>T (p.Pro514Ser) c.2002C>T (p.Pro668Ser) c.1936C>T (p.Pro646Ser) c.1894C>T (p.Pro632Ser) c.967C>T (p.Pro323Ser) | ClinVar gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407312G>C | CA409639348 | KCNQ2 | c.2005C>G (p.Pro669Ala) c.1951C>G (p.Pro651Ala) c.1348C>G (p.Pro450Ala) c.1858C>G (p.Pro620Ala) c.1519C>G (p.Pro507Ala) c.1867C>G (p.Pro623Ala) c.1975C>G (p.Pro659Ala) c.1939C>G (p.Pro647Ala) c.1897C>G (p.Pro633Ala) c.1679+6138C>G (n.1679+6138C>G) c.1993C>G (p.Pro665Ala) c.2059C>G (p.Pro687Ala) c.2056C>G (p.Pro686Ala) c.2029C>G (p.Pro677Ala) c.1948C>G (p.Pro650Ala) c.1933C>G (p.Pro645Ala) c.1540C>G (p.Pro514Ala) c.2002C>G (p.Pro668Ala) c.1936C>G (p.Pro646Ala) c.1894C>G (p.Pro632Ala) c.967C>G (p.Pro323Ala) | |
20 | g.63407312G>T | CA409639349 | KCNQ2 | c.2005C>A (p.Pro669Thr) c.1951C>A (p.Pro651Thr) c.1348C>A (p.Pro450Thr) c.1858C>A (p.Pro620Thr) c.1519C>A (p.Pro507Thr) c.1867C>A (p.Pro623Thr) c.1975C>A (p.Pro659Thr) c.1939C>A (p.Pro647Thr) c.1897C>A (p.Pro633Thr) c.1679+6138C>A (n.1679+6138C>A) c.1993C>A (p.Pro665Thr) c.2059C>A (p.Pro687Thr) c.2056C>A (p.Pro686Thr) c.2029C>A (p.Pro677Thr) c.1948C>A (p.Pro650Thr) c.1933C>A (p.Pro645Thr) c.1540C>A (p.Pro514Thr) c.2002C>A (p.Pro668Thr) c.1936C>A (p.Pro646Thr) c.1894C>A (p.Pro632Thr) c.967C>A (p.Pro323Thr) | |
20 | g.63407313G>A | CA9958191 | KCNQ2 | c.2004C>T (p.Ile668=) c.1950C>T (p.Ile650=) c.1347C>T (p.Ile449=) c.1857C>T (p.Ile619=) c.1518C>T (p.Ile506=) c.1866C>T (p.Ile622=) c.1974C>T (p.Ile658=) c.1938C>T (p.Ile646=) c.1896C>T (p.Ile632=) c.1679+6137C>T (n.1679+6137C>T) c.1992C>T (p.Ile664=) c.2058C>T (p.Ile686=) c.2055C>T (p.Ile685=) c.2028C>T (p.Ile676=) c.1947C>T (p.Ile649=) c.1932C>T (p.Ile644=) c.1539C>T (p.Ile513=) c.2001C>T (p.Ile667=) c.1935C>T (p.Ile645=) c.1893C>T (p.Ile631=) c.966C>T (p.Ile322=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63407313G>C | CA409639351 | KCNQ2 | c.2004C>G (p.Ile668Met) c.1950C>G (p.Ile650Met) c.1347C>G (p.Ile449Met) c.1857C>G (p.Ile619Met) c.1518C>G (p.Ile506Met) c.1866C>G (p.Ile622Met) c.1974C>G (p.Ile658Met) c.1938C>G (p.Ile646Met) c.1896C>G (p.Ile632Met) c.1679+6137C>G (n.1679+6137C>G) c.1992C>G (p.Ile664Met) c.2058C>G (p.Ile686Met) c.2055C>G (p.Ile685Met) c.2028C>G (p.Ile676Met) c.1947C>G (p.Ile649Met) c.1932C>G (p.Ile644Met) c.1539C>G (p.Ile513Met) c.2001C>G (p.Ile667Met) c.1935C>G (p.Ile645Met) c.1893C>G (p.Ile631Met) c.966C>G (p.Ile322Met) | dbSNP |
20 | g.63407313G= | CA2374774543 | KCNQ2 | c.2004C= (p.Ile668=) c.1950C= (p.Ile650=) c.1347C= (p.Ile449=) c.1857C= (p.Ile619=) c.1518C= (p.Ile506=) c.1866C= (p.Ile622=) c.1974C= (p.Ile658=) c.1938C= (p.Ile646=) c.1896C= (p.Ile632=) c.1679+6137C= (n.1679+6137C=) c.1992C= (p.Ile664=) c.2058C= (p.Ile686=) c.2055C= (p.Ile685=) c.2028C= (p.Ile676=) c.1947C= (p.Ile649=) c.1932C= (p.Ile644=) c.1539C= (p.Ile513=) c.2001C= (p.Ile667=) c.1935C= (p.Ile645=) c.1893C= (p.Ile631=) c.966C= (p.Ile322=) | |
20 | g.63407313G>T | CA511339567 | KCNQ2 | c.2004C>A (p.Ile668=) c.1950C>A (p.Ile650=) c.1347C>A (p.Ile449=) c.1857C>A (p.Ile619=) c.1518C>A (p.Ile506=) c.1866C>A (p.Ile622=) c.1974C>A (p.Ile658=) c.1938C>A (p.Ile646=) c.1896C>A (p.Ile632=) c.1679+6137C>A (n.1679+6137C>A) c.1992C>A (p.Ile664=) c.2058C>A (p.Ile686=) c.2055C>A (p.Ile685=) c.2028C>A (p.Ile676=) c.1947C>A (p.Ile649=) c.1932C>A (p.Ile644=) c.1539C>A (p.Ile513=) c.2001C>A (p.Ile667=) c.1935C>A (p.Ile645=) c.1893C>A (p.Ile631=) c.966C>A (p.Ile322=) | gnomAD v4 |
20 | g.63407314A>C | CA409639352 | KCNQ2 | c.2003T>G (p.Ile668Ser) c.1949T>G (p.Ile650Ser) c.1346T>G (p.Ile449Ser) c.1856T>G (p.Ile619Ser) c.1517T>G (p.Ile506Ser) c.1865T>G (p.Ile622Ser) c.1973T>G (p.Ile658Ser) c.1937T>G (p.Ile646Ser) c.1895T>G (p.Ile632Ser) c.1679+6136T>G (n.1679+6136T>G) c.1991T>G (p.Ile664Ser) c.2057T>G (p.Ile686Ser) c.2054T>G (p.Ile685Ser) c.2027T>G (p.Ile676Ser) c.1946T>G (p.Ile649Ser) c.1931T>G (p.Ile644Ser) c.1538T>G (p.Ile513Ser) c.2000T>G (p.Ile667Ser) c.1934T>G (p.Ile645Ser) c.1892T>G (p.Ile631Ser) c.965T>G (p.Ile322Ser) | |
20 | g.63407314A>G | CA409639353 | KCNQ2 | c.2003T>C (p.Ile668Thr) c.1949T>C (p.Ile650Thr) c.1346T>C (p.Ile449Thr) c.1856T>C (p.Ile619Thr) c.1517T>C (p.Ile506Thr) c.1865T>C (p.Ile622Thr) c.1973T>C (p.Ile658Thr) c.1937T>C (p.Ile646Thr) c.1895T>C (p.Ile632Thr) c.1679+6136T>C (n.1679+6136T>C) c.1991T>C (p.Ile664Thr) c.2057T>C (p.Ile686Thr) c.2054T>C (p.Ile685Thr) c.2027T>C (p.Ile676Thr) c.1946T>C (p.Ile649Thr) c.1931T>C (p.Ile644Thr) c.1538T>C (p.Ile513Thr) c.2000T>C (p.Ile667Thr) c.1934T>C (p.Ile645Thr) c.1892T>C (p.Ile631Thr) c.965T>C (p.Ile322Thr) | gnomAD v4 |
20 | g.63407314A>T | CA409639354 | KCNQ2 | c.2003T>A (p.Ile668Asn) c.1949T>A (p.Ile650Asn) c.1346T>A (p.Ile449Asn) c.1856T>A (p.Ile619Asn) c.1517T>A (p.Ile506Asn) c.1865T>A (p.Ile622Asn) c.1973T>A (p.Ile658Asn) c.1937T>A (p.Ile646Asn) c.1895T>A (p.Ile632Asn) c.1679+6136T>A (n.1679+6136T>A) c.1991T>A (p.Ile664Asn) c.2057T>A (p.Ile686Asn) c.2054T>A (p.Ile685Asn) c.2027T>A (p.Ile676Asn) c.1946T>A (p.Ile649Asn) c.1931T>A (p.Ile644Asn) c.1538T>A (p.Ile513Asn) c.2000T>A (p.Ile667Asn) c.1934T>A (p.Ile645Asn) c.1892T>A (p.Ile631Asn) c.965T>A (p.Ile322Asn) | |
20 | g.63407315T>A | CA409639355 | KCNQ2 | c.2002A>T (p.Ile668Phe) c.1948A>T (p.Ile650Phe) c.1345A>T (p.Ile449Phe) c.1855A>T (p.Ile619Phe) c.1516A>T (p.Ile506Phe) c.1864A>T (p.Ile622Phe) c.1972A>T (p.Ile658Phe) c.1936A>T (p.Ile646Phe) c.1894A>T (p.Ile632Phe) c.1679+6135A>T (n.1679+6135A>T) c.1990A>T (p.Ile664Phe) c.2056A>T (p.Ile686Phe) c.2053A>T (p.Ile685Phe) c.2026A>T (p.Ile676Phe) c.1945A>T (p.Ile649Phe) c.1930A>T (p.Ile644Phe) c.1537A>T (p.Ile513Phe) c.1999A>T (p.Ile667Phe) c.1933A>T (p.Ile645Phe) c.1891A>T (p.Ile631Phe) c.964A>T (p.Ile322Phe) | |
20 | g.63407315T>C | CA409639356 | KCNQ2 | c.2002A>G (p.Ile668Val) c.1948A>G (p.Ile650Val) c.1345A>G (p.Ile449Val) c.1855A>G (p.Ile619Val) c.1516A>G (p.Ile506Val) c.1864A>G (p.Ile622Val) c.1972A>G (p.Ile658Val) c.1936A>G (p.Ile646Val) c.1894A>G (p.Ile632Val) c.1679+6135A>G (n.1679+6135A>G) c.1990A>G (p.Ile664Val) c.2056A>G (p.Ile686Val) c.2053A>G (p.Ile685Val) c.2026A>G (p.Ile676Val) c.1945A>G (p.Ile649Val) c.1930A>G (p.Ile644Val) c.1537A>G (p.Ile513Val) c.1999A>G (p.Ile667Val) c.1933A>G (p.Ile645Val) c.1891A>G (p.Ile631Val) c.964A>G (p.Ile322Val) | |
20 | g.63407315T>G | CA409639357 | KCNQ2 | c.2002A>C (p.Ile668Leu) c.1948A>C (p.Ile650Leu) c.1345A>C (p.Ile449Leu) c.1855A>C (p.Ile619Leu) c.1516A>C (p.Ile506Leu) c.1864A>C (p.Ile622Leu) c.1972A>C (p.Ile658Leu) c.1936A>C (p.Ile646Leu) c.1894A>C (p.Ile632Leu) c.1679+6135A>C (n.1679+6135A>C) c.1990A>C (p.Ile664Leu) c.2056A>C (p.Ile686Leu) c.2053A>C (p.Ile685Leu) c.2026A>C (p.Ile676Leu) c.1945A>C (p.Ile649Leu) c.1930A>C (p.Ile644Leu) c.1537A>C (p.Ile513Leu) c.1999A>C (p.Ile667Leu) c.1933A>C (p.Ile645Leu) c.1891A>C (p.Ile631Leu) c.964A>C (p.Ile322Leu) | |
20 | g.63407316G>A | CA511339571 | KCNQ2 | c.2001C>T (p.Gly667=) c.1947C>T (p.Gly649=) c.1344C>T (p.Gly448=) c.1854C>T (p.Gly618=) c.1515C>T (p.Gly505=) c.1863C>T (p.Gly621=) c.1971C>T (p.Gly657=) c.1935C>T (p.Gly645=) c.1893C>T (p.Gly631=) c.1679+6134C>T (n.1679+6134C>T) c.1989C>T (p.Gly663=) c.2055C>T (p.Gly685=) c.2052C>T (p.Gly684=) c.2025C>T (p.Gly675=) c.1944C>T (p.Gly648=) c.1929C>T (p.Gly643=) c.1536C>T (p.Gly512=) c.1998C>T (p.Gly666=) c.1932C>T (p.Gly644=) c.1890C>T (p.Gly630=) c.963C>T (p.Gly321=) | gnomAD v4 |
20 | g.63407316G>C | CA511339572 | KCNQ2 | c.2001C>G (p.Gly667=) c.1947C>G (p.Gly649=) c.1344C>G (p.Gly448=) c.1854C>G (p.Gly618=) c.1515C>G (p.Gly505=) c.1863C>G (p.Gly621=) c.1971C>G (p.Gly657=) c.1935C>G (p.Gly645=) c.1893C>G (p.Gly631=) c.1679+6134C>G (n.1679+6134C>G) c.1989C>G (p.Gly663=) c.2055C>G (p.Gly685=) c.2052C>G (p.Gly684=) c.2025C>G (p.Gly675=) c.1944C>G (p.Gly648=) c.1929C>G (p.Gly643=) c.1536C>G (p.Gly512=) c.1998C>G (p.Gly666=) c.1932C>G (p.Gly644=) c.1890C>G (p.Gly630=) c.963C>G (p.Gly321=) | |
20 | g.63407316G>T | CA511339573 | KCNQ2 | c.2001C>A (p.Gly667=) c.1947C>A (p.Gly649=) c.1344C>A (p.Gly448=) c.1854C>A (p.Gly618=) c.1515C>A (p.Gly505=) c.1863C>A (p.Gly621=) c.1971C>A (p.Gly657=) c.1935C>A (p.Gly645=) c.1893C>A (p.Gly631=) c.1679+6134C>A (n.1679+6134C>A) c.1989C>A (p.Gly663=) c.2055C>A (p.Gly685=) c.2052C>A (p.Gly684=) c.2025C>A (p.Gly675=) c.1944C>A (p.Gly648=) c.1929C>A (p.Gly643=) c.1536C>A (p.Gly512=) c.1998C>A (p.Gly666=) c.1932C>A (p.Gly644=) c.1890C>A (p.Gly630=) c.963C>A (p.Gly321=) | gnomAD v4 |
20 | g.63407317C>A | CA409639358 | KCNQ2 | c.2000G>T (p.Gly667Val) c.1946G>T (p.Gly649Val) c.1343G>T (p.Gly448Val) c.1853G>T (p.Gly618Val) c.1514G>T (p.Gly505Val) c.1862G>T (p.Gly621Val) c.1970G>T (p.Gly657Val) c.1934G>T (p.Gly645Val) c.1892G>T (p.Gly631Val) c.1679+6133G>T (n.1679+6133G>T) c.1988G>T (p.Gly663Val) c.2054G>T (p.Gly685Val) c.2051G>T (p.Gly684Val) c.2024G>T (p.Gly675Val) c.1943G>T (p.Gly648Val) c.1928G>T (p.Gly643Val) c.1535G>T (p.Gly512Val) c.1997G>T (p.Gly666Val) c.1931G>T (p.Gly644Val) c.1889G>T (p.Gly630Val) c.962G>T (p.Gly321Val) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63407317C= | CA2374774544 | KCNQ2 | c.2000G= (p.Gly667=) c.1946G= (p.Gly649=) c.1343G= (p.Gly448=) c.1853G= (p.Gly618=) c.1514G= (p.Gly505=) c.1862G= (p.Gly621=) c.1970G= (p.Gly657=) c.1934G= (p.Gly645=) c.1892G= (p.Gly631=) c.1679+6133G= (n.1679+6133G=) c.1988G= (p.Gly663=) c.2054G= (p.Gly685=) c.2051G= (p.Gly684=) c.2024G= (p.Gly675=) c.1943G= (p.Gly648=) c.1928G= (p.Gly643=) c.1535G= (p.Gly512=) c.1997G= (p.Gly666=) c.1931G= (p.Gly644=) c.1889G= (p.Gly630=) c.962G= (p.Gly321=) | |
20 | g.63407317C>G | CA9958192 | KCNQ2 | c.2000G>C (p.Gly667Ala) c.1946G>C (p.Gly649Ala) c.1343G>C (p.Gly448Ala) c.1853G>C (p.Gly618Ala) c.1514G>C (p.Gly505Ala) c.1862G>C (p.Gly621Ala) c.1970G>C (p.Gly657Ala) c.1934G>C (p.Gly645Ala) c.1892G>C (p.Gly631Ala) c.1679+6133G>C (n.1679+6133G>C) c.1988G>C (p.Gly663Ala) c.2054G>C (p.Gly685Ala) c.2051G>C (p.Gly684Ala) c.2024G>C (p.Gly675Ala) c.1943G>C (p.Gly648Ala) c.1928G>C (p.Gly643Ala) c.1535G>C (p.Gly512Ala) c.1997G>C (p.Gly666Ala) c.1931G>C (p.Gly644Ala) c.1889G>C (p.Gly630Ala) c.962G>C (p.Gly321Ala) | dbSNP ExAC gnomAD v3 gnomAD v4 |
20 | g.63407317C>T | CA315510 | KCNQ2 | c.2000G>A (p.Gly667Asp) c.1946G>A (p.Gly649Asp) c.1343G>A (p.Gly448Asp) c.1853G>A (p.Gly618Asp) c.1514G>A (p.Gly505Asp) c.1862G>A (p.Gly621Asp) c.1970G>A (p.Gly657Asp) c.1934G>A (p.Gly645Asp) c.1892G>A (p.Gly631Asp) c.1679+6133G>A (n.1679+6133G>A) c.1988G>A (p.Gly663Asp) c.2054G>A (p.Gly685Asp) c.2051G>A (p.Gly684Asp) c.2024G>A (p.Gly675Asp) c.1943G>A (p.Gly648Asp) c.1928G>A (p.Gly643Asp) c.1535G>A (p.Gly512Asp) c.1997G>A (p.Gly666Asp) c.1931G>A (p.Gly644Asp) c.1889G>A (p.Gly630Asp) c.962G>A (p.Gly321Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
20 | g.63407318C>A | CA409639366 | KCNQ2 | c.1999G>T (p.Gly667Cys) c.1945G>T (p.Gly649Cys) c.1342G>T (p.Gly448Cys) c.1852G>T (p.Gly618Cys) c.1513G>T (p.Gly505Cys) c.1861G>T (p.Gly621Cys) c.1969G>T (p.Gly657Cys) c.1933G>T (p.Gly645Cys) c.1891G>T (p.Gly631Cys) c.1679+6132G>T (n.1679+6132G>T) c.1987G>T (p.Gly663Cys) c.2053G>T (p.Gly685Cys) c.2050G>T (p.Gly684Cys) c.2023G>T (p.Gly675Cys) c.1942G>T (p.Gly648Cys) c.1927G>T (p.Gly643Cys) c.1534G>T (p.Gly512Cys) c.1996G>T (p.Gly666Cys) c.1930G>T (p.Gly644Cys) c.1888G>T (p.Gly630Cys) c.961G>T (p.Gly321Cys) | |
20 | g.63407318C>G | CA409639362 | KCNQ2 | c.1999G>C (p.Gly667Arg) c.1945G>C (p.Gly649Arg) c.1342G>C (p.Gly448Arg) c.1852G>C (p.Gly618Arg) c.1513G>C (p.Gly505Arg) c.1861G>C (p.Gly621Arg) c.1969G>C (p.Gly657Arg) c.1933G>C (p.Gly645Arg) c.1891G>C (p.Gly631Arg) c.1679+6132G>C (n.1679+6132G>C) c.1987G>C (p.Gly663Arg) c.2053G>C (p.Gly685Arg) c.2050G>C (p.Gly684Arg) c.2023G>C (p.Gly675Arg) c.1942G>C (p.Gly648Arg) c.1927G>C (p.Gly643Arg) c.1534G>C (p.Gly512Arg) c.1996G>C (p.Gly666Arg) c.1930G>C (p.Gly644Arg) c.1888G>C (p.Gly630Arg) c.961G>C (p.Gly321Arg) | |
20 | g.63407318C>T | CA409639364 | KCNQ2 | c.1999G>A (p.Gly667Ser) c.1945G>A (p.Gly649Ser) c.1342G>A (p.Gly448Ser) c.1852G>A (p.Gly618Ser) c.1513G>A (p.Gly505Ser) c.1861G>A (p.Gly621Ser) c.1969G>A (p.Gly657Ser) c.1933G>A (p.Gly645Ser) c.1891G>A (p.Gly631Ser) c.1679+6132G>A (n.1679+6132G>A) c.1987G>A (p.Gly663Ser) c.2053G>A (p.Gly685Ser) c.2050G>A (p.Gly684Ser) c.2023G>A (p.Gly675Ser) c.1942G>A (p.Gly648Ser) c.1927G>A (p.Gly643Ser) c.1534G>A (p.Gly512Ser) c.1996G>A (p.Gly666Ser) c.1930G>A (p.Gly644Ser) c.1888G>A (p.Gly630Ser) c.961G>A (p.Gly321Ser) | |
20 | g.63407319C>A | CA409639368 | KCNQ2 | c.1998G>T (p.Met666Ile) c.1944G>T (p.Met648Ile) c.1341G>T (p.Met447Ile) c.1851G>T (p.Met617Ile) c.1512G>T (p.Met504Ile) c.1860G>T (p.Met620Ile) c.1968G>T (p.Met656Ile) c.1932G>T (p.Met644Ile) c.1890G>T (p.Met630Ile) c.1679+6131G>T (n.1679+6131G>T) c.1986G>T (p.Met662Ile) c.2052G>T (p.Met684Ile) c.2049G>T (p.Met683Ile) c.2022G>T (p.Met674Ile) c.1941G>T (p.Met647Ile) c.1926G>T (p.Met642Ile) c.1533G>T (p.Met511Ile) c.1995G>T (p.Met665Ile) c.1929G>T (p.Met643Ile) c.1887G>T (p.Met629Ile) c.960G>T (p.Met320Ile) | gnomAD v4 |
20 | g.63407319C>G | CA409639369 | KCNQ2 | c.1998G>C (p.Met666Ile) c.1944G>C (p.Met648Ile) c.1341G>C (p.Met447Ile) c.1851G>C (p.Met617Ile) c.1512G>C (p.Met504Ile) c.1860G>C (p.Met620Ile) c.1968G>C (p.Met656Ile) c.1932G>C (p.Met644Ile) c.1890G>C (p.Met630Ile) c.1679+6131G>C (n.1679+6131G>C) c.1986G>C (p.Met662Ile) c.2052G>C (p.Met684Ile) c.2049G>C (p.Met683Ile) c.2022G>C (p.Met674Ile) c.1941G>C (p.Met647Ile) c.1926G>C (p.Met642Ile) c.1533G>C (p.Met511Ile) c.1995G>C (p.Met665Ile) c.1929G>C (p.Met643Ile) c.1887G>C (p.Met629Ile) c.960G>C (p.Met320Ile) | |
20 | g.63407319C>T | CA409639371 | KCNQ2 | c.1998G>A (p.Met666Ile) c.1944G>A (p.Met648Ile) c.1341G>A (p.Met447Ile) c.1851G>A (p.Met617Ile) c.1512G>A (p.Met504Ile) c.1860G>A (p.Met620Ile) c.1968G>A (p.Met656Ile) c.1932G>A (p.Met644Ile) c.1890G>A (p.Met630Ile) c.1679+6131G>A (n.1679+6131G>A) c.1986G>A (p.Met662Ile) c.2052G>A (p.Met684Ile) c.2049G>A (p.Met683Ile) c.2022G>A (p.Met674Ile) c.1941G>A (p.Met647Ile) c.1926G>A (p.Met642Ile) c.1533G>A (p.Met511Ile) c.1995G>A (p.Met665Ile) c.1929G>A (p.Met643Ile) c.1887G>A (p.Met629Ile) c.960G>A (p.Met320Ile) | |
20 | g.63407320A>C | CA409639373 | KCNQ2 | c.1997T>G (p.Met666Arg) c.1943T>G (p.Met648Arg) c.1340T>G (p.Met447Arg) n.100T>G c.1850T>G (p.Met617Arg) c.1511T>G (p.Met504Arg) c.1859T>G (p.Met620Arg) c.1967T>G (p.Met656Arg) c.1931T>G (p.Met644Arg) c.1889T>G (p.Met630Arg) c.1679+6130T>G (n.1679+6130T>G) c.1985T>G (p.Met662Arg) c.2051T>G (p.Met684Arg) c.2048T>G (p.Met683Arg) c.2021T>G (p.Met674Arg) c.1940T>G (p.Met647Arg) c.1925T>G (p.Met642Arg) c.1532T>G (p.Met511Arg) c.1994T>G (p.Met665Arg) c.1928T>G (p.Met643Arg) c.1886T>G (p.Met629Arg) c.959T>G (p.Met320Arg) | gnomAD v4 |
20 | g.63407320A>G | CA409639375 | KCNQ2 | c.1997T>C (p.Met666Thr) c.1943T>C (p.Met648Thr) c.1340T>C (p.Met447Thr) n.100T>C c.1850T>C (p.Met617Thr) c.1511T>C (p.Met504Thr) c.1859T>C (p.Met620Thr) c.1967T>C (p.Met656Thr) c.1931T>C (p.Met644Thr) c.1889T>C (p.Met630Thr) c.1679+6130T>C (n.1679+6130T>C) c.1985T>C (p.Met662Thr) c.2051T>C (p.Met684Thr) c.2048T>C (p.Met683Thr) c.2021T>C (p.Met674Thr) c.1940T>C (p.Met647Thr) c.1925T>C (p.Met642Thr) c.1532T>C (p.Met511Thr) c.1994T>C (p.Met665Thr) c.1928T>C (p.Met643Thr) c.1886T>C (p.Met629Thr) c.959T>C (p.Met320Thr) | |
20 | g.63407320A>T | CA409639377 | KCNQ2 | c.1997T>A (p.Met666Lys) c.1943T>A (p.Met648Lys) c.1340T>A (p.Met447Lys) n.100T>A c.1850T>A (p.Met617Lys) c.1511T>A (p.Met504Lys) c.1859T>A (p.Met620Lys) c.1967T>A (p.Met656Lys) c.1931T>A (p.Met644Lys) c.1889T>A (p.Met630Lys) c.1679+6130T>A (n.1679+6130T>A) c.1985T>A (p.Met662Lys) c.2051T>A (p.Met684Lys) c.2048T>A (p.Met683Lys) c.2021T>A (p.Met674Lys) c.1940T>A (p.Met647Lys) c.1925T>A (p.Met642Lys) c.1532T>A (p.Met511Lys) c.1994T>A (p.Met665Lys) c.1928T>A (p.Met643Lys) c.1886T>A (p.Met629Lys) c.959T>A (p.Met320Lys) | |
20 | g.63407321T>A | CA9958193 | KCNQ2 | c.1996A>T (p.Met666Leu) c.1942A>T (p.Met648Leu) c.1339A>T (p.Met447Leu) n.99A>T c.1849A>T (p.Met617Leu) c.1510A>T (p.Met504Leu) c.1858A>T (p.Met620Leu) c.1966A>T (p.Met656Leu) c.1930A>T (p.Met644Leu) c.1888A>T (p.Met630Leu) c.1679+6129A>T (n.1679+6129A>T) c.1984A>T (p.Met662Leu) c.2050A>T (p.Met684Leu) c.2047A>T (p.Met683Leu) c.2020A>T (p.Met674Leu) c.1939A>T (p.Met647Leu) c.1924A>T (p.Met642Leu) c.1531A>T (p.Met511Leu) c.1993A>T (p.Met665Leu) c.1927A>T (p.Met643Leu) c.1885A>T (p.Met629Leu) c.958A>T (p.Met320Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63407321T>C | CA409639379 | KCNQ2 | c.1996A>G (p.Met666Val) c.1942A>G (p.Met648Val) c.1339A>G (p.Met447Val) n.99A>G c.1849A>G (p.Met617Val) c.1510A>G (p.Met504Val) c.1858A>G (p.Met620Val) c.1966A>G (p.Met656Val) c.1930A>G (p.Met644Val) c.1888A>G (p.Met630Val) c.1679+6129A>G (n.1679+6129A>G) c.1984A>G (p.Met662Val) c.2050A>G (p.Met684Val) c.2047A>G (p.Met683Val) c.2020A>G (p.Met674Val) c.1939A>G (p.Met647Val) c.1924A>G (p.Met642Val) c.1531A>G (p.Met511Val) c.1993A>G (p.Met665Val) c.1927A>G (p.Met643Val) c.1885A>G (p.Met629Val) c.958A>G (p.Met320Val) | |
20 | g.63407321T>G | CA409639380 | KCNQ2 | c.1996A>C (p.Met666Leu) c.1942A>C (p.Met648Leu) c.1339A>C (p.Met447Leu) n.99A>C c.1849A>C (p.Met617Leu) c.1510A>C (p.Met504Leu) c.1858A>C (p.Met620Leu) c.1966A>C (p.Met656Leu) c.1930A>C (p.Met644Leu) c.1888A>C (p.Met630Leu) c.1679+6129A>C (n.1679+6129A>C) c.1984A>C (p.Met662Leu) c.2050A>C (p.Met684Leu) c.2047A>C (p.Met683Leu) c.2020A>C (p.Met674Leu) c.1939A>C (p.Met647Leu) c.1924A>C (p.Met642Leu) c.1531A>C (p.Met511Leu) c.1993A>C (p.Met665Leu) c.1927A>C (p.Met643Leu) c.1885A>C (p.Met629Leu) c.958A>C (p.Met320Leu) | |
20 | g.63407321T= | CA2374774545 | KCNQ2 | c.1996A= (p.Met666=) c.1942A= (p.Met648=) c.1339A= (p.Met447=) n.99A= c.1849A= (p.Met617=) c.1510A= (p.Met504=) c.1858A= (p.Met620=) c.1966A= (p.Met656=) c.1930A= (p.Met644=) c.1888A= (p.Met630=) c.1679+6129A= (n.1679+6129A=) c.1984A= (p.Met662=) c.2050A= (p.Met684=) c.2047A= (p.Met683=) c.2020A= (p.Met674=) c.1939A= (p.Met647=) c.1924A= (p.Met642=) c.1531A= (p.Met511=) c.1993A= (p.Met665=) c.1927A= (p.Met643=) c.1885A= (p.Met629=) c.958A= (p.Met320=) | |
20 | g.63407322C>A | CA511339590 | KCNQ2 | c.1995G>T (p.Arg665=) c.1941G>T (p.Arg647=) c.1338G>T (p.Arg446=) n.98G>T c.1848G>T (p.Arg616=) c.1509G>T (p.Arg503=) c.1857G>T (p.Arg619=) c.1965G>T (p.Arg655=) c.1929G>T (p.Arg643=) c.1887G>T (p.Arg629=) c.1679+6128G>T (n.1679+6128G>T) c.1983G>T (p.Arg661=) c.2049G>T (p.Arg683=) c.2046G>T (p.Arg682=) c.2019G>T (p.Arg673=) c.1938G>T (p.Arg646=) c.1923G>T (p.Arg641=) c.1530G>T (p.Arg510=) c.1992G>T (p.Arg664=) c.1926G>T (p.Arg642=) c.1884G>T (p.Arg628=) c.957G>T (p.Arg319=) | |
20 | g.63407322C>G | CA511339592 | KCNQ2 | c.1995G>C (p.Arg665=) c.1941G>C (p.Arg647=) c.1338G>C (p.Arg446=) n.98G>C c.1848G>C (p.Arg616=) c.1509G>C (p.Arg503=) c.1857G>C (p.Arg619=) c.1965G>C (p.Arg655=) c.1929G>C (p.Arg643=) c.1887G>C (p.Arg629=) c.1679+6128G>C (n.1679+6128G>C) c.1983G>C (p.Arg661=) c.2049G>C (p.Arg683=) c.2046G>C (p.Arg682=) c.2019G>C (p.Arg673=) c.1938G>C (p.Arg646=) c.1923G>C (p.Arg641=) c.1530G>C (p.Arg510=) c.1992G>C (p.Arg664=) c.1926G>C (p.Arg642=) c.1884G>C (p.Arg628=) c.957G>C (p.Arg319=) | |
20 | g.63407322C>T | CA511339593 | KCNQ2 | c.1995G>A (p.Arg665=) c.1941G>A (p.Arg647=) c.1338G>A (p.Arg446=) n.98G>A c.1848G>A (p.Arg616=) c.1509G>A (p.Arg503=) c.1857G>A (p.Arg619=) c.1965G>A (p.Arg655=) c.1929G>A (p.Arg643=) c.1887G>A (p.Arg629=) c.1679+6128G>A (n.1679+6128G>A) c.1983G>A (p.Arg661=) c.2049G>A (p.Arg683=) c.2046G>A (p.Arg682=) c.2019G>A (p.Arg673=) c.1938G>A (p.Arg646=) c.1923G>A (p.Arg641=) c.1530G>A (p.Arg510=) c.1992G>A (p.Arg664=) c.1926G>A (p.Arg642=) c.1884G>A (p.Arg628=) c.957G>A (p.Arg319=) | |
20 | g.63407323C>A | CA409639382 | KCNQ2 | c.1994G>T (p.Arg665Leu) c.1940G>T (p.Arg647Leu) c.1337G>T (p.Arg446Leu) n.97G>T c.1847G>T (p.Arg616Leu) c.1508G>T (p.Arg503Leu) c.1856G>T (p.Arg619Leu) c.1964G>T (p.Arg655Leu) c.1928G>T (p.Arg643Leu) c.1886G>T (p.Arg629Leu) c.1679+6127G>T (n.1679+6127G>T) c.1982G>T (p.Arg661Leu) c.2048G>T (p.Arg683Leu) c.2045G>T (p.Arg682Leu) c.2018G>T (p.Arg673Leu) c.1937G>T (p.Arg646Leu) c.1922G>T (p.Arg641Leu) c.1529G>T (p.Arg510Leu) c.1991G>T (p.Arg664Leu) c.1925G>T (p.Arg642Leu) c.1883G>T (p.Arg628Leu) c.956G>T (p.Arg319Leu) | gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407323C= | CA2374774546 | KCNQ2 | c.1994G= (p.Arg665=) c.1940G= (p.Arg647=) c.1337G= (p.Arg446=) n.97G= c.1847G= (p.Arg616=) c.1508G= (p.Arg503=) c.1856G= (p.Arg619=) c.1964G= (p.Arg655=) c.1928G= (p.Arg643=) c.1886G= (p.Arg629=) c.1679+6127G= (n.1679+6127G=) c.1982G= (p.Arg661=) c.2048G= (p.Arg683=) c.2045G= (p.Arg682=) c.2018G= (p.Arg673=) c.1937G= (p.Arg646=) c.1922G= (p.Arg641=) c.1529G= (p.Arg510=) c.1991G= (p.Arg664=) c.1925G= (p.Arg642=) c.1883G= (p.Arg628=) c.956G= (p.Arg319=) | |
20 | g.63407323C>G | CA409639384 | KCNQ2 | c.1994G>C (p.Arg665Pro) c.1940G>C (p.Arg647Pro) c.1337G>C (p.Arg446Pro) n.97G>C c.1847G>C (p.Arg616Pro) c.1508G>C (p.Arg503Pro) c.1856G>C (p.Arg619Pro) c.1964G>C (p.Arg655Pro) c.1928G>C (p.Arg643Pro) c.1886G>C (p.Arg629Pro) c.1679+6127G>C (n.1679+6127G>C) c.1982G>C (p.Arg661Pro) c.2048G>C (p.Arg683Pro) c.2045G>C (p.Arg682Pro) c.2018G>C (p.Arg673Pro) c.1937G>C (p.Arg646Pro) c.1922G>C (p.Arg641Pro) c.1529G>C (p.Arg510Pro) c.1991G>C (p.Arg664Pro) c.1925G>C (p.Arg642Pro) c.1883G>C (p.Arg628Pro) c.956G>C (p.Arg319Pro) | |
20 | g.63407323C>T | CA9958194 | KCNQ2 | c.1994G>A (p.Arg665Gln) c.1940G>A (p.Arg647Gln) c.1337G>A (p.Arg446Gln) n.97G>A c.1847G>A (p.Arg616Gln) c.1508G>A (p.Arg503Gln) c.1856G>A (p.Arg619Gln) c.1964G>A (p.Arg655Gln) c.1928G>A (p.Arg643Gln) c.1886G>A (p.Arg629Gln) c.1679+6127G>A (n.1679+6127G>A) c.1982G>A (p.Arg661Gln) c.2048G>A (p.Arg683Gln) c.2045G>A (p.Arg682Gln) c.2018G>A (p.Arg673Gln) c.1937G>A (p.Arg646Gln) c.1922G>A (p.Arg641Gln) c.1529G>A (p.Arg510Gln) c.1991G>A (p.Arg664Gln) c.1925G>A (p.Arg642Gln) c.1883G>A (p.Arg628Gln) c.956G>A (p.Arg319Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
20 | g.63407324G>A | CA9958195 | KCNQ2 | c.1993C>T (p.Arg665Trp) c.1939C>T (p.Arg647Trp) c.1336C>T (p.Arg446Trp) n.96C>T c.1846C>T (p.Arg616Trp) c.1507C>T (p.Arg503Trp) c.1855C>T (p.Arg619Trp) c.1963C>T (p.Arg655Trp) c.1927C>T (p.Arg643Trp) c.1885C>T (p.Arg629Trp) c.1679+6126C>T (n.1679+6126C>T) c.1981C>T (p.Arg661Trp) c.2047C>T (p.Arg683Trp) c.2044C>T (p.Arg682Trp) c.2017C>T (p.Arg673Trp) c.1936C>T (p.Arg646Trp) c.1921C>T (p.Arg641Trp) c.1528C>T (p.Arg510Trp) c.1990C>T (p.Arg664Trp) c.1924C>T (p.Arg642Trp) c.1882C>T (p.Arg628Trp) c.955C>T (p.Arg319Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407324G>C | CA409639386 | KCNQ2 | c.1993C>G (p.Arg665Gly) c.1939C>G (p.Arg647Gly) c.1336C>G (p.Arg446Gly) n.96C>G c.1846C>G (p.Arg616Gly) c.1507C>G (p.Arg503Gly) c.1855C>G (p.Arg619Gly) c.1963C>G (p.Arg655Gly) c.1927C>G (p.Arg643Gly) c.1885C>G (p.Arg629Gly) c.1679+6126C>G (n.1679+6126C>G) c.1981C>G (p.Arg661Gly) c.2047C>G (p.Arg683Gly) c.2044C>G (p.Arg682Gly) c.2017C>G (p.Arg673Gly) c.1936C>G (p.Arg646Gly) c.1921C>G (p.Arg641Gly) c.1528C>G (p.Arg510Gly) c.1990C>G (p.Arg664Gly) c.1924C>G (p.Arg642Gly) c.1882C>G (p.Arg628Gly) c.955C>G (p.Arg319Gly) | |
20 | g.63407324G= | CA2374774547 | KCNQ2 | c.1993C= (p.Arg665=) c.1939C= (p.Arg647=) c.1336C= (p.Arg446=) n.96C= c.1846C= (p.Arg616=) c.1507C= (p.Arg503=) c.1855C= (p.Arg619=) c.1963C= (p.Arg655=) c.1927C= (p.Arg643=) c.1885C= (p.Arg629=) c.1679+6126C= (n.1679+6126C=) c.1981C= (p.Arg661=) c.2047C= (p.Arg683=) c.2044C= (p.Arg682=) c.2017C= (p.Arg673=) c.1936C= (p.Arg646=) c.1921C= (p.Arg641=) c.1528C= (p.Arg510=) c.1990C= (p.Arg664=) c.1924C= (p.Arg642=) c.1882C= (p.Arg628=) c.955C= (p.Arg319=) | |
20 | g.63407324G>T | CA511339594 | KCNQ2 | c.1993C>A (p.Arg665=) c.1939C>A (p.Arg647=) c.1336C>A (p.Arg446=) n.96C>A c.1846C>A (p.Arg616=) c.1507C>A (p.Arg503=) c.1855C>A (p.Arg619=) c.1963C>A (p.Arg655=) c.1927C>A (p.Arg643=) c.1885C>A (p.Arg629=) c.1679+6126C>A (n.1679+6126C>A) c.1981C>A (p.Arg661=) c.2047C>A (p.Arg683=) c.2044C>A (p.Arg682=) c.2017C>A (p.Arg673=) c.1936C>A (p.Arg646=) c.1921C>A (p.Arg641=) c.1528C>A (p.Arg510=) c.1990C>A (p.Arg664=) c.1924C>A (p.Arg642=) c.1882C>A (p.Arg628=) c.955C>A (p.Arg319=) | gnomAD v4 |
20 | g.63407325C>A | CA409639389 | KCNQ2 | c.1992G>T (p.Gln664His) c.1938G>T (p.Gln646His) c.1335G>T (p.Gln445His) n.95G>T c.1845G>T (p.Gln615His) c.1506G>T (p.Gln502His) c.1854G>T (p.Gln618His) c.1962G>T (p.Gln654His) c.1926G>T (p.Gln642His) c.1884G>T (p.Gln628His) c.1679+6125G>T (n.1679+6125G>T) c.1980G>T (p.Gln660His) c.2046G>T (p.Gln682His) c.2043G>T (p.Gln681His) c.2016G>T (p.Gln672His) c.1935G>T (p.Gln645His) c.1920G>T (p.Gln640His) c.1527G>T (p.Gln509His) c.1989G>T (p.Gln663His) c.1923G>T (p.Gln641His) c.1881G>T (p.Gln627His) c.954G>T (p.Gln318His) | |
20 | g.63407325C= | CA2374774548 | KCNQ2 | c.1992G= (p.Gln664=) c.1938G= (p.Gln646=) c.1335G= (p.Gln445=) n.95G= c.1845G= (p.Gln615=) c.1506G= (p.Gln502=) c.1854G= (p.Gln618=) c.1962G= (p.Gln654=) c.1926G= (p.Gln642=) c.1884G= (p.Gln628=) c.1679+6125G= (n.1679+6125G=) c.1980G= (p.Gln660=) c.2046G= (p.Gln682=) c.2043G= (p.Gln681=) c.2016G= (p.Gln672=) c.1935G= (p.Gln645=) c.1920G= (p.Gln640=) c.1527G= (p.Gln509=) c.1989G= (p.Gln663=) c.1923G= (p.Gln641=) c.1881G= (p.Gln627=) c.954G= (p.Gln318=) | |
20 | g.63407325C>G | CA409639391 | KCNQ2 | c.1992G>C (p.Gln664His) c.1938G>C (p.Gln646His) c.1335G>C (p.Gln445His) n.95G>C c.1845G>C (p.Gln615His) c.1506G>C (p.Gln502His) c.1854G>C (p.Gln618His) c.1962G>C (p.Gln654His) c.1926G>C (p.Gln642His) c.1884G>C (p.Gln628His) c.1679+6125G>C (n.1679+6125G>C) c.1980G>C (p.Gln660His) c.2046G>C (p.Gln682His) c.2043G>C (p.Gln681His) c.2016G>C (p.Gln672His) c.1935G>C (p.Gln645His) c.1920G>C (p.Gln640His) c.1527G>C (p.Gln509His) c.1989G>C (p.Gln663His) c.1923G>C (p.Gln641His) c.1881G>C (p.Gln627His) c.954G>C (p.Gln318His) | gnomAD v4 |
20 | g.63407325C>T | CA9958196 | KCNQ2 | c.1992G>A (p.Gln664=) c.1938G>A (p.Gln646=) c.1335G>A (p.Gln445=) n.95G>A c.1845G>A (p.Gln615=) c.1506G>A (p.Gln502=) c.1854G>A (p.Gln618=) c.1962G>A (p.Gln654=) c.1926G>A (p.Gln642=) c.1884G>A (p.Gln628=) c.1679+6125G>A (n.1679+6125G>A) c.1980G>A (p.Gln660=) c.2046G>A (p.Gln682=) c.2043G>A (p.Gln681=) c.2016G>A (p.Gln672=) c.1935G>A (p.Gln645=) c.1920G>A (p.Gln640=) c.1527G>A (p.Gln509=) c.1989G>A (p.Gln663=) c.1923G>A (p.Gln641=) c.1881G>A (p.Gln627=) c.954G>A (p.Gln318=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63407326T>A | CA409639394 | KCNQ2 | c.1991A>T (p.Gln664Leu) c.1937A>T (p.Gln646Leu) c.1334A>T (p.Gln445Leu) n.94A>T c.1844A>T (p.Gln615Leu) c.1505A>T (p.Gln502Leu) c.1853A>T (p.Gln618Leu) c.1961A>T (p.Gln654Leu) c.1925A>T (p.Gln642Leu) c.1883A>T (p.Gln628Leu) c.1679+6124A>T (n.1679+6124A>T) c.1979A>T (p.Gln660Leu) c.2045A>T (p.Gln682Leu) c.2042A>T (p.Gln681Leu) c.2015A>T (p.Gln672Leu) c.1934A>T (p.Gln645Leu) c.1919A>T (p.Gln640Leu) c.1526A>T (p.Gln509Leu) c.1988A>T (p.Gln663Leu) c.1922A>T (p.Gln641Leu) c.1880A>T (p.Gln627Leu) c.953A>T (p.Gln318Leu) | |
20 | g.63407326T>C | CA315507 | KCNQ2 | c.1991A>G (p.Gln664Arg) c.1937A>G (p.Gln646Arg) c.1334A>G (p.Gln445Arg) n.94A>G c.1844A>G (p.Gln615Arg) c.1505A>G (p.Gln502Arg) c.1853A>G (p.Gln618Arg) c.1961A>G (p.Gln654Arg) c.1925A>G (p.Gln642Arg) c.1883A>G (p.Gln628Arg) c.1679+6124A>G (n.1679+6124A>G) c.1979A>G (p.Gln660Arg) c.2045A>G (p.Gln682Arg) c.2042A>G (p.Gln681Arg) c.2015A>G (p.Gln672Arg) c.1934A>G (p.Gln645Arg) c.1919A>G (p.Gln640Arg) c.1526A>G (p.Gln509Arg) c.1988A>G (p.Gln663Arg) c.1922A>G (p.Gln641Arg) c.1880A>G (p.Gln627Arg) c.953A>G (p.Gln318Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407326T>G | CA409639397 | KCNQ2 | c.1991A>C (p.Gln664Pro) c.1937A>C (p.Gln646Pro) c.1334A>C (p.Gln445Pro) n.94A>C c.1844A>C (p.Gln615Pro) c.1505A>C (p.Gln502Pro) c.1853A>C (p.Gln618Pro) c.1961A>C (p.Gln654Pro) c.1925A>C (p.Gln642Pro) c.1883A>C (p.Gln628Pro) c.1679+6124A>C (n.1679+6124A>C) c.1979A>C (p.Gln660Pro) c.2045A>C (p.Gln682Pro) c.2042A>C (p.Gln681Pro) c.2015A>C (p.Gln672Pro) c.1934A>C (p.Gln645Pro) c.1919A>C (p.Gln640Pro) c.1526A>C (p.Gln509Pro) c.1988A>C (p.Gln663Pro) c.1922A>C (p.Gln641Pro) c.1880A>C (p.Gln627Pro) c.953A>C (p.Gln318Pro) | gnomAD v4 |
20 | g.63407326T= | CA2374774549 | KCNQ2 | c.1991A= (p.Gln664=) c.1937A= (p.Gln646=) c.1334A= (p.Gln445=) n.94A= c.1844A= (p.Gln615=) c.1505A= (p.Gln502=) c.1853A= (p.Gln618=) c.1961A= (p.Gln654=) c.1925A= (p.Gln642=) c.1883A= (p.Gln628=) c.1679+6124A= (n.1679+6124A=) c.1979A= (p.Gln660=) c.2045A= (p.Gln682=) c.2042A= (p.Gln681=) c.2015A= (p.Gln672=) c.1934A= (p.Gln645=) c.1919A= (p.Gln640=) c.1526A= (p.Gln509=) c.1988A= (p.Gln663=) c.1922A= (p.Gln641=) c.1880A= (p.Gln627=) c.953A= (p.Gln318=) | |
20 | g.63407327G>A | CA409639404 | KCNQ2 | c.1990C>T (p.Gln664Ter) c.1936C>T (p.Gln646Ter) c.1333C>T (p.Gln445Ter) n.93C>T c.1843C>T (p.Gln615Ter) c.1504C>T (p.Gln502Ter) c.1852C>T (p.Gln618Ter) c.1960C>T (p.Gln654Ter) c.1924C>T (p.Gln642Ter) c.1882C>T (p.Gln628Ter) c.1679+6123C>T (n.1679+6123C>T) c.1978C>T (p.Gln660Ter) c.2044C>T (p.Gln682Ter) c.2041C>T (p.Gln681Ter) c.2014C>T (p.Gln672Ter) c.1933C>T (p.Gln645Ter) c.1918C>T (p.Gln640Ter) c.1525C>T (p.Gln509Ter) c.1987C>T (p.Gln663Ter) c.1921C>T (p.Gln641Ter) c.1879C>T (p.Gln627Ter) c.952C>T (p.Gln318Ter) | |
20 | g.63407327G>C | CA409639402 | KCNQ2 | c.1990C>G (p.Gln664Glu) c.1936C>G (p.Gln646Glu) c.1333C>G (p.Gln445Glu) n.93C>G c.1843C>G (p.Gln615Glu) c.1504C>G (p.Gln502Glu) c.1852C>G (p.Gln618Glu) c.1960C>G (p.Gln654Glu) c.1924C>G (p.Gln642Glu) c.1882C>G (p.Gln628Glu) c.1679+6123C>G (n.1679+6123C>G) c.1978C>G (p.Gln660Glu) c.2044C>G (p.Gln682Glu) c.2041C>G (p.Gln681Glu) c.2014C>G (p.Gln672Glu) c.1933C>G (p.Gln645Glu) c.1918C>G (p.Gln640Glu) c.1525C>G (p.Gln509Glu) c.1987C>G (p.Gln663Glu) c.1921C>G (p.Gln641Glu) c.1879C>G (p.Gln627Glu) c.952C>G (p.Gln318Glu) | |
20 | g.63407327G>T | CA409639400 | KCNQ2 | c.1990C>A (p.Gln664Lys) c.1936C>A (p.Gln646Lys) c.1333C>A (p.Gln445Lys) n.93C>A c.1843C>A (p.Gln615Lys) c.1504C>A (p.Gln502Lys) c.1852C>A (p.Gln618Lys) c.1960C>A (p.Gln654Lys) c.1924C>A (p.Gln642Lys) c.1882C>A (p.Gln628Lys) c.1679+6123C>A (n.1679+6123C>A) c.1978C>A (p.Gln660Lys) c.2044C>A (p.Gln682Lys) c.2041C>A (p.Gln681Lys) c.2014C>A (p.Gln672Lys) c.1933C>A (p.Gln645Lys) c.1918C>A (p.Gln640Lys) c.1525C>A (p.Gln509Lys) c.1987C>A (p.Gln663Lys) c.1921C>A (p.Gln641Lys) c.1879C>A (p.Gln627Lys) c.952C>A (p.Gln318Lys) | gnomAD v4 |
20 | g.63407328C>A | CA409639406 | KCNQ2 | c.1989G>T (p.Met663Ile) c.1935G>T (p.Met645Ile) c.1332G>T (p.Met444Ile) n.92G>T c.1842G>T (p.Met614Ile) c.1503G>T (p.Met501Ile) c.1851G>T (p.Met617Ile) c.1959G>T (p.Met653Ile) c.1923G>T (p.Met641Ile) c.1881G>T (p.Met627Ile) c.1679+6122G>T (n.1679+6122G>T) c.1977G>T (p.Met659Ile) c.2043G>T (p.Met681Ile) c.2040G>T (p.Met680Ile) c.2013G>T (p.Met671Ile) c.1932G>T (p.Met644Ile) c.1917G>T (p.Met639Ile) c.1524G>T (p.Met508Ile) c.1986G>T (p.Met662Ile) c.1920G>T (p.Met640Ile) c.1878G>T (p.Met626Ile) c.951G>T (p.Met317Ile) | |
20 | g.63407328C= | CA2374774550 | KCNQ2 | c.1989G= (p.Met663=) c.1935G= (p.Met645=) c.1332G= (p.Met444=) n.92G= c.1842G= (p.Met614=) c.1503G= (p.Met501=) c.1851G= (p.Met617=) c.1959G= (p.Met653=) c.1923G= (p.Met641=) c.1881G= (p.Met627=) c.1679+6122G= (n.1679+6122G=) c.1977G= (p.Met659=) c.2043G= (p.Met681=) c.2040G= (p.Met680=) c.2013G= (p.Met671=) c.1932G= (p.Met644=) c.1917G= (p.Met639=) c.1524G= (p.Met508=) c.1986G= (p.Met662=) c.1920G= (p.Met640=) c.1878G= (p.Met626=) c.951G= (p.Met317=) | |
20 | g.63407328C>G | CA409639408 | KCNQ2 | c.1989G>C (p.Met663Ile) c.1935G>C (p.Met645Ile) c.1332G>C (p.Met444Ile) n.92G>C c.1842G>C (p.Met614Ile) c.1503G>C (p.Met501Ile) c.1851G>C (p.Met617Ile) c.1959G>C (p.Met653Ile) c.1923G>C (p.Met641Ile) c.1881G>C (p.Met627Ile) c.1679+6122G>C (n.1679+6122G>C) c.1977G>C (p.Met659Ile) c.2043G>C (p.Met681Ile) c.2040G>C (p.Met680Ile) c.2013G>C (p.Met671Ile) c.1932G>C (p.Met644Ile) c.1917G>C (p.Met639Ile) c.1524G>C (p.Met508Ile) c.1986G>C (p.Met662Ile) c.1920G>C (p.Met640Ile) c.1878G>C (p.Met626Ile) c.951G>C (p.Met317Ile) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407328C>T | CA409639409 | KCNQ2 | c.1989G>A (p.Met663Ile) c.1935G>A (p.Met645Ile) c.1332G>A (p.Met444Ile) n.92G>A c.1842G>A (p.Met614Ile) c.1503G>A (p.Met501Ile) c.1851G>A (p.Met617Ile) c.1959G>A (p.Met653Ile) c.1923G>A (p.Met641Ile) c.1881G>A (p.Met627Ile) c.1679+6122G>A (n.1679+6122G>A) c.1977G>A (p.Met659Ile) c.2043G>A (p.Met681Ile) c.2040G>A (p.Met680Ile) c.2013G>A (p.Met671Ile) c.1932G>A (p.Met644Ile) c.1917G>A (p.Met639Ile) c.1524G>A (p.Met508Ile) c.1986G>A (p.Met662Ile) c.1920G>A (p.Met640Ile) c.1878G>A (p.Met626Ile) c.951G>A (p.Met317Ile) | |
20 | g.63407328dup | CA2739277258 | KCNQ2 | c.1989dup (p.Gln664AlafsTer?) c.1935dup (p.Gln646AlafsTer?) c.1332dup (p.Gln445AlafsTer?) n.92dup c.1842dup (p.Gln615AlafsTer?) c.1503dup (p.Gln502AlafsTer?) c.1851dup (p.Gln618AlafsTer?) c.1959dup (p.Gln654AlafsTer?) c.1923dup (p.Gln642AlafsTer?) c.1881dup (p.Gln628AlafsTer?) c.1679+6122dup (n.1679+6122dup) c.1977dup (p.Gln660AlafsTer?) c.2043dup (p.Gln682AlafsTer?) c.2040dup (p.Gln681AlafsTer?) c.2013dup (p.Gln672AlafsTer?) c.1932dup (p.Gln645AlafsTer?) c.1917dup (p.Gln640AlafsTer?) c.1524dup (p.Gln509AlafsTer?) c.1986dup (p.Gln663AlafsTer?) c.1920dup (p.Gln641AlafsTer?) c.1878dup (p.Gln627AlafsTer?) c.951dup (p.Gln318AlafsTer?) | ClinVar |
20 | g.63407329A= | CA2374774551 | KCNQ2 | c.1988T= (p.Met663=) c.1934T= (p.Met645=) c.1331T= (p.Met444=) n.91T= c.1841T= (p.Met614=) c.1502T= (p.Met501=) c.1850T= (p.Met617=) c.1958T= (p.Met653=) c.1922T= (p.Met641=) c.1880T= (p.Met627=) c.1679+6121T= (n.1679+6121T=) c.1976T= (p.Met659=) c.2042T= (p.Met681=) c.2039T= (p.Met680=) c.2012T= (p.Met671=) c.1931T= (p.Met644=) c.1916T= (p.Met639=) c.1523T= (p.Met508=) c.1985T= (p.Met662=) c.1919T= (p.Met640=) c.1877T= (p.Met626=) c.950T= (p.Met317=) | |
20 | g.63407329A>C | CA409639411 | KCNQ2 | c.1988T>G (p.Met663Arg) c.1934T>G (p.Met645Arg) c.1331T>G (p.Met444Arg) n.91T>G c.1841T>G (p.Met614Arg) c.1502T>G (p.Met501Arg) c.1850T>G (p.Met617Arg) c.1958T>G (p.Met653Arg) c.1922T>G (p.Met641Arg) c.1880T>G (p.Met627Arg) c.1679+6121T>G (n.1679+6121T>G) c.1976T>G (p.Met659Arg) c.2042T>G (p.Met681Arg) c.2039T>G (p.Met680Arg) c.2012T>G (p.Met671Arg) c.1931T>G (p.Met644Arg) c.1916T>G (p.Met639Arg) c.1523T>G (p.Met508Arg) c.1985T>G (p.Met662Arg) c.1919T>G (p.Met640Arg) c.1877T>G (p.Met626Arg) c.950T>G (p.Met317Arg) | |
20 | g.63407329A>G | CA409639412 | KCNQ2 | c.1988T>C (p.Met663Thr) c.1934T>C (p.Met645Thr) c.1331T>C (p.Met444Thr) n.91T>C c.1841T>C (p.Met614Thr) c.1502T>C (p.Met501Thr) c.1850T>C (p.Met617Thr) c.1958T>C (p.Met653Thr) c.1922T>C (p.Met641Thr) c.1880T>C (p.Met627Thr) c.1679+6121T>C (n.1679+6121T>C) c.1976T>C (p.Met659Thr) c.2042T>C (p.Met681Thr) c.2039T>C (p.Met680Thr) c.2012T>C (p.Met671Thr) c.1931T>C (p.Met644Thr) c.1916T>C (p.Met639Thr) c.1523T>C (p.Met508Thr) c.1985T>C (p.Met662Thr) c.1919T>C (p.Met640Thr) c.1877T>C (p.Met626Thr) c.950T>C (p.Met317Thr) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407329A>T | CA409639414 | KCNQ2 | c.1988T>A (p.Met663Lys) c.1934T>A (p.Met645Lys) c.1331T>A (p.Met444Lys) n.91T>A c.1841T>A (p.Met614Lys) c.1502T>A (p.Met501Lys) c.1850T>A (p.Met617Lys) c.1958T>A (p.Met653Lys) c.1922T>A (p.Met641Lys) c.1880T>A (p.Met627Lys) c.1679+6121T>A (n.1679+6121T>A) c.1976T>A (p.Met659Lys) c.2042T>A (p.Met681Lys) c.2039T>A (p.Met680Lys) c.2012T>A (p.Met671Lys) c.1931T>A (p.Met644Lys) c.1916T>A (p.Met639Lys) c.1523T>A (p.Met508Lys) c.1985T>A (p.Met662Lys) c.1919T>A (p.Met640Lys) c.1877T>A (p.Met626Lys) c.950T>A (p.Met317Lys) | |
20 | g.63407330T>A | CA409639416 | KCNQ2 | c.1987A>T (p.Met663Leu) c.1933A>T (p.Met645Leu) c.1330A>T (p.Met444Leu) n.90A>T c.1840A>T (p.Met614Leu) c.1501A>T (p.Met501Leu) c.1849A>T (p.Met617Leu) c.1957A>T (p.Met653Leu) c.1921A>T (p.Met641Leu) c.1879A>T (p.Met627Leu) c.1679+6120A>T (n.1679+6120A>T) c.1975A>T (p.Met659Leu) c.2041A>T (p.Met681Leu) c.2038A>T (p.Met680Leu) c.2011A>T (p.Met671Leu) c.1930A>T (p.Met644Leu) c.1915A>T (p.Met639Leu) c.1522A>T (p.Met508Leu) c.1984A>T (p.Met662Leu) c.1918A>T (p.Met640Leu) c.1876A>T (p.Met626Leu) c.949A>T (p.Met317Leu) | |
20 | g.63407330T>C | CA9958197 | KCNQ2 | c.1987A>G (p.Met663Val) c.1933A>G (p.Met645Val) c.1330A>G (p.Met444Val) n.90A>G c.1840A>G (p.Met614Val) c.1501A>G (p.Met501Val) c.1849A>G (p.Met617Val) c.1957A>G (p.Met653Val) c.1921A>G (p.Met641Val) c.1879A>G (p.Met627Val) c.1679+6120A>G (n.1679+6120A>G) c.1975A>G (p.Met659Val) c.2041A>G (p.Met681Val) c.2038A>G (p.Met680Val) c.2011A>G (p.Met671Val) c.1930A>G (p.Met644Val) c.1915A>G (p.Met639Val) c.1522A>G (p.Met508Val) c.1984A>G (p.Met662Val) c.1918A>G (p.Met640Val) c.1876A>G (p.Met626Val) c.949A>G (p.Met317Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63407330T>G | CA409639418 | KCNQ2 | c.1987A>C (p.Met663Leu) c.1933A>C (p.Met645Leu) c.1330A>C (p.Met444Leu) n.90A>C c.1840A>C (p.Met614Leu) c.1501A>C (p.Met501Leu) c.1849A>C (p.Met617Leu) c.1957A>C (p.Met653Leu) c.1921A>C (p.Met641Leu) c.1879A>C (p.Met627Leu) c.1679+6120A>C (n.1679+6120A>C) c.1975A>C (p.Met659Leu) c.2041A>C (p.Met681Leu) c.2038A>C (p.Met680Leu) c.2011A>C (p.Met671Leu) c.1930A>C (p.Met644Leu) c.1915A>C (p.Met639Leu) c.1522A>C (p.Met508Leu) c.1984A>C (p.Met662Leu) c.1918A>C (p.Met640Leu) c.1876A>C (p.Met626Leu) c.949A>C (p.Met317Leu) | |
20 | g.63407330T= | CA2374774552 | KCNQ2 | c.1987A= (p.Met663=) c.1933A= (p.Met645=) c.1330A= (p.Met444=) n.90A= c.1840A= (p.Met614=) c.1501A= (p.Met501=) c.1849A= (p.Met617=) c.1957A= (p.Met653=) c.1921A= (p.Met641=) c.1879A= (p.Met627=) c.1679+6120A= (n.1679+6120A=) c.1975A= (p.Met659=) c.2041A= (p.Met681=) c.2038A= (p.Met680=) c.2011A= (p.Met671=) c.1930A= (p.Met644=) c.1915A= (p.Met639=) c.1522A= (p.Met508=) c.1984A= (p.Met662=) c.1918A= (p.Met640=) c.1876A= (p.Met626=) c.949A= (p.Met317=) | |
20 | g.63407331G>A | CA511339616 | KCNQ2 | c.1986C>T (p.Tyr662=) c.1932C>T (p.Tyr644=) c.1329C>T (p.Tyr443=) n.89C>T c.1839C>T (p.Tyr613=) c.1500C>T (p.Tyr500=) c.1848C>T (p.Tyr616=) c.1956C>T (p.Tyr652=) c.1920C>T (p.Tyr640=) c.1878C>T (p.Tyr626=) c.1679+6119C>T (n.1679+6119C>T) c.1974C>T (p.Tyr658=) c.2040C>T (p.Tyr680=) c.2037C>T (p.Tyr679=) c.2010C>T (p.Tyr670=) c.1929C>T (p.Tyr643=) c.1914C>T (p.Tyr638=) c.1521C>T (p.Tyr507=) c.1983C>T (p.Tyr661=) c.1917C>T (p.Tyr639=) c.1875C>T (p.Tyr625=) c.948C>T (p.Tyr316=) | gnomAD v4 |
20 | g.63407331G>C | CA409639421 | KCNQ2 | c.1986C>G (p.Tyr662Ter) c.1932C>G (p.Tyr644Ter) c.1329C>G (p.Tyr443Ter) n.89C>G c.1839C>G (p.Tyr613Ter) c.1500C>G (p.Tyr500Ter) c.1848C>G (p.Tyr616Ter) c.1956C>G (p.Tyr652Ter) c.1920C>G (p.Tyr640Ter) c.1878C>G (p.Tyr626Ter) c.1679+6119C>G (n.1679+6119C>G) c.1974C>G (p.Tyr658Ter) c.2040C>G (p.Tyr680Ter) c.2037C>G (p.Tyr679Ter) c.2010C>G (p.Tyr670Ter) c.1929C>G (p.Tyr643Ter) c.1914C>G (p.Tyr638Ter) c.1521C>G (p.Tyr507Ter) c.1983C>G (p.Tyr661Ter) c.1917C>G (p.Tyr639Ter) c.1875C>G (p.Tyr625Ter) c.948C>G (p.Tyr316Ter) | |
20 | g.63407331G>T | CA409639422 | KCNQ2 | c.1986C>A (p.Tyr662Ter) c.1932C>A (p.Tyr644Ter) c.1329C>A (p.Tyr443Ter) n.89C>A c.1839C>A (p.Tyr613Ter) c.1500C>A (p.Tyr500Ter) c.1848C>A (p.Tyr616Ter) c.1956C>A (p.Tyr652Ter) c.1920C>A (p.Tyr640Ter) c.1878C>A (p.Tyr626Ter) c.1679+6119C>A (n.1679+6119C>A) c.1974C>A (p.Tyr658Ter) c.2040C>A (p.Tyr680Ter) c.2037C>A (p.Tyr679Ter) c.2010C>A (p.Tyr670Ter) c.1929C>A (p.Tyr643Ter) c.1914C>A (p.Tyr638Ter) c.1521C>A (p.Tyr507Ter) c.1983C>A (p.Tyr661Ter) c.1917C>A (p.Tyr639Ter) c.1875C>A (p.Tyr625Ter) c.948C>A (p.Tyr316Ter) | gnomAD v4 |
20 | g.63407332T>A | CA409639423 | KCNQ2 | c.1985A>T (p.Tyr662Phe) c.1931A>T (p.Tyr644Phe) c.1328A>T (p.Tyr443Phe) n.88A>T c.1838A>T (p.Tyr613Phe) c.1499A>T (p.Tyr500Phe) c.1847A>T (p.Tyr616Phe) c.1955A>T (p.Tyr652Phe) c.1919A>T (p.Tyr640Phe) c.1877A>T (p.Tyr626Phe) c.1679+6118A>T (n.1679+6118A>T) c.1973A>T (p.Tyr658Phe) c.2039A>T (p.Tyr680Phe) c.2036A>T (p.Tyr679Phe) c.2009A>T (p.Tyr670Phe) c.1928A>T (p.Tyr643Phe) c.1913A>T (p.Tyr638Phe) c.1520A>T (p.Tyr507Phe) c.1982A>T (p.Tyr661Phe) c.1916A>T (p.Tyr639Phe) c.1874A>T (p.Tyr625Phe) c.947A>T (p.Tyr316Phe) | |
20 | g.63407332T>C | CA409639425 | KCNQ2 | c.1985A>G (p.Tyr662Cys) c.1931A>G (p.Tyr644Cys) c.1328A>G (p.Tyr443Cys) n.88A>G c.1838A>G (p.Tyr613Cys) c.1499A>G (p.Tyr500Cys) c.1847A>G (p.Tyr616Cys) c.1955A>G (p.Tyr652Cys) c.1919A>G (p.Tyr640Cys) c.1877A>G (p.Tyr626Cys) c.1679+6118A>G (n.1679+6118A>G) c.1973A>G (p.Tyr658Cys) c.2039A>G (p.Tyr680Cys) c.2036A>G (p.Tyr679Cys) c.2009A>G (p.Tyr670Cys) c.1928A>G (p.Tyr643Cys) c.1913A>G (p.Tyr638Cys) c.1520A>G (p.Tyr507Cys) c.1982A>G (p.Tyr661Cys) c.1916A>G (p.Tyr639Cys) c.1874A>G (p.Tyr625Cys) c.947A>G (p.Tyr316Cys) | gnomAD v4 |
20 | g.63407332T>G | CA409639427 | KCNQ2 | c.1985A>C (p.Tyr662Ser) c.1931A>C (p.Tyr644Ser) c.1328A>C (p.Tyr443Ser) n.88A>C c.1838A>C (p.Tyr613Ser) c.1499A>C (p.Tyr500Ser) c.1847A>C (p.Tyr616Ser) c.1955A>C (p.Tyr652Ser) c.1919A>C (p.Tyr640Ser) c.1877A>C (p.Tyr626Ser) c.1679+6118A>C (n.1679+6118A>C) c.1973A>C (p.Tyr658Ser) c.2039A>C (p.Tyr680Ser) c.2036A>C (p.Tyr679Ser) c.2009A>C (p.Tyr670Ser) c.1928A>C (p.Tyr643Ser) c.1913A>C (p.Tyr638Ser) c.1520A>C (p.Tyr507Ser) c.1982A>C (p.Tyr661Ser) c.1916A>C (p.Tyr639Ser) c.1874A>C (p.Tyr625Ser) c.947A>C (p.Tyr316Ser) | |
20 | g.63407332T= | CA2374774554 | KCNQ2 | c.1985A= (p.Tyr662=) c.1931A= (p.Tyr644=) c.1328A= (p.Tyr443=) n.88A= c.1838A= (p.Tyr613=) c.1499A= (p.Tyr500=) c.1847A= (p.Tyr616=) c.1955A= (p.Tyr652=) c.1919A= (p.Tyr640=) c.1877A= (p.Tyr626=) c.1679+6118A= (n.1679+6118A=) c.1973A= (p.Tyr658=) c.2039A= (p.Tyr680=) c.2036A= (p.Tyr679=) c.2009A= (p.Tyr670=) c.1928A= (p.Tyr643=) c.1913A= (p.Tyr638=) c.1520A= (p.Tyr507=) c.1982A= (p.Tyr661=) c.1916A= (p.Tyr639=) c.1874A= (p.Tyr625=) c.947A= (p.Tyr316=) | |
20 | g.63407332_63407333delinsTA | CA2374774553 | KCNQ2 | c.1984_1985delinsTA (p.Tyr662=) c.1930_1931delinsTA (p.Tyr644=) c.1327_1328delinsTA (p.Tyr443=) n.87_88delinsTA c.1837_1838delinsTA (p.Tyr613=) c.1498_1499delinsTA (p.Tyr500=) c.1846_1847delinsTA (p.Tyr616=) c.1954_1955delinsTA (p.Tyr652=) c.1918_1919delinsTA (p.Tyr640=) c.1876_1877delinsTA (p.Tyr626=) c.1679+6117_1679+6118delinsTA (n.1679+6117_1679+6118delinsTA) c.1972_1973delinsTA (p.Tyr658=) c.2038_2039delinsTA (p.Tyr680=) c.2035_2036delinsTA (p.Tyr679=) c.2008_2009delinsTA (p.Tyr670=) c.1927_1928delinsTA (p.Tyr643=) c.1912_1913delinsTA (p.Tyr638=) c.1519_1520delinsTA (p.Tyr507=) c.1981_1982delinsTA (p.Tyr661=) c.1915_1916delinsTA (p.Tyr639=) c.1873_1874delinsTA (p.Tyr625=) c.946_947delinsTA (p.Tyr316=) | |
20 | g.63407333del | CA342481 | KCNQ2 | c.1984del (p.Tyr662ThrfsTer?) c.1930del (p.Tyr644ThrfsTer?) c.1327del (p.Tyr443ThrfsTer?) n.87del c.1837del (p.Tyr613ThrfsTer?) c.1498del (p.Tyr500ThrfsTer?) c.1846del (p.Tyr616ThrfsTer?) c.1954del (p.Tyr652ThrfsTer?) c.1918del (p.Tyr640ThrfsTer?) c.1876del (p.Tyr626ThrfsTer?) c.1679+6117del (n.1679+6117del) c.1972del (p.Tyr658ThrfsTer?) c.2038del (p.Tyr680ThrfsTer?) c.2035del (p.Tyr679ThrfsTer?) c.2008del (p.Tyr670ThrfsTer?) c.1927del (p.Tyr643ThrfsTer?) c.1912del (p.Tyr638ThrfsTer?) c.1519del (p.Tyr507ThrfsTer?) c.1981del (p.Tyr661ThrfsTer?) c.1915del (p.Tyr639ThrfsTer?) c.1873del (p.Tyr625ThrfsTer?) c.946del (p.Tyr316ThrfsTer?) | ClinVar dbSNP |
20 | g.63407333A>C | CA409639432 | KCNQ2 | c.1984T>G (p.Tyr662Asp) c.1930T>G (p.Tyr644Asp) c.1327T>G (p.Tyr443Asp) n.87T>G c.1837T>G (p.Tyr613Asp) c.1498T>G (p.Tyr500Asp) c.1846T>G (p.Tyr616Asp) c.1954T>G (p.Tyr652Asp) c.1918T>G (p.Tyr640Asp) c.1876T>G (p.Tyr626Asp) c.1679+6117T>G (n.1679+6117T>G) c.1972T>G (p.Tyr658Asp) c.2038T>G (p.Tyr680Asp) c.2035T>G (p.Tyr679Asp) c.2008T>G (p.Tyr670Asp) c.1927T>G (p.Tyr643Asp) c.1912T>G (p.Tyr638Asp) c.1519T>G (p.Tyr507Asp) c.1981T>G (p.Tyr661Asp) c.1915T>G (p.Tyr639Asp) c.1873T>G (p.Tyr625Asp) c.946T>G (p.Tyr316Asp) | |
20 | g.63407333A>G | CA409639433 | KCNQ2 | c.1984T>C (p.Tyr662His) c.1930T>C (p.Tyr644His) c.1327T>C (p.Tyr443His) n.87T>C c.1837T>C (p.Tyr613His) c.1498T>C (p.Tyr500His) c.1846T>C (p.Tyr616His) c.1954T>C (p.Tyr652His) c.1918T>C (p.Tyr640His) c.1876T>C (p.Tyr626His) c.1679+6117T>C (n.1679+6117T>C) c.1972T>C (p.Tyr658His) c.2038T>C (p.Tyr680His) c.2035T>C (p.Tyr679His) c.2008T>C (p.Tyr670His) c.1927T>C (p.Tyr643His) c.1912T>C (p.Tyr638His) c.1519T>C (p.Tyr507His) c.1981T>C (p.Tyr661His) c.1915T>C (p.Tyr639His) c.1873T>C (p.Tyr625His) c.946T>C (p.Tyr316His) | |
20 | g.63407333A>T | CA409639434 | KCNQ2 | c.1984T>A (p.Tyr662Asn) c.1930T>A (p.Tyr644Asn) c.1327T>A (p.Tyr443Asn) n.87T>A c.1837T>A (p.Tyr613Asn) c.1498T>A (p.Tyr500Asn) c.1846T>A (p.Tyr616Asn) c.1954T>A (p.Tyr652Asn) c.1918T>A (p.Tyr640Asn) c.1876T>A (p.Tyr626Asn) c.1679+6117T>A (n.1679+6117T>A) c.1972T>A (p.Tyr658Asn) c.2038T>A (p.Tyr680Asn) c.2035T>A (p.Tyr679Asn) c.2008T>A (p.Tyr670Asn) c.1927T>A (p.Tyr643Asn) c.1912T>A (p.Tyr638Asn) c.1519T>A (p.Tyr507Asn) c.1981T>A (p.Tyr661Asn) c.1915T>A (p.Tyr639Asn) c.1873T>A (p.Tyr625Asn) c.946T>A (p.Tyr316Asn) | |
20 | g.63407333dup | CA315551 | KCNQ2 | c.1984dup (p.Tyr662LeufsTer?) c.1930dup (p.Tyr644LeufsTer?) c.1327dup (p.Tyr443LeufsTer?) n.87dup c.1837dup (p.Tyr613LeufsTer?) c.1498dup (p.Tyr500LeufsTer?) c.1846dup (p.Tyr616LeufsTer?) c.1954dup (p.Tyr652LeufsTer?) c.1918dup (p.Tyr640LeufsTer?) c.1876dup (p.Tyr626LeufsTer?) c.1679+6117dup (n.1679+6117dup) c.1972dup (p.Tyr658LeufsTer?) c.2038dup (p.Tyr680LeufsTer?) c.2035dup (p.Tyr679LeufsTer?) c.2008dup (p.Tyr670LeufsTer?) c.1927dup (p.Tyr643LeufsTer?) c.1912dup (p.Tyr638LeufsTer?) c.1519dup (p.Tyr507LeufsTer?) c.1981dup (p.Tyr661LeufsTer?) c.1915dup (p.Tyr639LeufsTer?) c.1873dup (p.Tyr625LeufsTer?) c.946dup (p.Tyr316LeufsTer?) | ClinVar dbSNP |
20 | g.63407334G>A | CA9958198 | KCNQ2 | c.1983C>T (p.Ile661=) c.1929C>T (p.Ile643=) c.1326C>T (p.Ile442=) n.86C>T c.1836C>T (p.Ile612=) c.1497C>T (p.Ile499=) c.1845C>T (p.Ile615=) c.1953C>T (p.Ile651=) c.1917C>T (p.Ile639=) c.1875C>T (p.Ile625=) c.1679+6116C>T (n.1679+6116C>T) c.1971C>T (p.Ile657=) c.2037C>T (p.Ile679=) c.2034C>T (p.Ile678=) c.2007C>T (p.Ile669=) c.1926C>T (p.Ile642=) c.1911C>T (p.Ile637=) c.1518C>T (p.Ile506=) c.1980C>T (p.Ile660=) c.1914C>T (p.Ile638=) c.1872C>T (p.Ile624=) c.945C>T (p.Ile315=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407334G>C | CA409639437 | KCNQ2 | c.1983C>G (p.Ile661Met) c.1929C>G (p.Ile643Met) c.1326C>G (p.Ile442Met) n.86C>G c.1836C>G (p.Ile612Met) c.1497C>G (p.Ile499Met) c.1845C>G (p.Ile615Met) c.1953C>G (p.Ile651Met) c.1917C>G (p.Ile639Met) c.1875C>G (p.Ile625Met) c.1679+6116C>G (n.1679+6116C>G) c.1971C>G (p.Ile657Met) c.2037C>G (p.Ile679Met) c.2034C>G (p.Ile678Met) c.2007C>G (p.Ile669Met) c.1926C>G (p.Ile642Met) c.1911C>G (p.Ile637Met) c.1518C>G (p.Ile506Met) c.1980C>G (p.Ile660Met) c.1914C>G (p.Ile638Met) c.1872C>G (p.Ile624Met) c.945C>G (p.Ile315Met) | |
20 | g.63407334G= | CA2374774555 | KCNQ2 | c.1983C= (p.Ile661=) c.1929C= (p.Ile643=) c.1326C= (p.Ile442=) n.86C= c.1836C= (p.Ile612=) c.1497C= (p.Ile499=) c.1845C= (p.Ile615=) c.1953C= (p.Ile651=) c.1917C= (p.Ile639=) c.1875C= (p.Ile625=) c.1679+6116C= (n.1679+6116C=) c.1971C= (p.Ile657=) c.2037C= (p.Ile679=) c.2034C= (p.Ile678=) c.2007C= (p.Ile669=) c.1926C= (p.Ile642=) c.1911C= (p.Ile637=) c.1518C= (p.Ile506=) c.1980C= (p.Ile660=) c.1914C= (p.Ile638=) c.1872C= (p.Ile624=) c.945C= (p.Ile315=) | |
20 | g.63407334G>T | CA511339626 | KCNQ2 | c.1983C>A (p.Ile661=) c.1929C>A (p.Ile643=) c.1326C>A (p.Ile442=) n.86C>A c.1836C>A (p.Ile612=) c.1497C>A (p.Ile499=) c.1845C>A (p.Ile615=) c.1953C>A (p.Ile651=) c.1917C>A (p.Ile639=) c.1875C>A (p.Ile625=) c.1679+6116C>A (n.1679+6116C>A) c.1971C>A (p.Ile657=) c.2037C>A (p.Ile679=) c.2034C>A (p.Ile678=) c.2007C>A (p.Ile669=) c.1926C>A (p.Ile642=) c.1911C>A (p.Ile637=) c.1518C>A (p.Ile506=) c.1980C>A (p.Ile660=) c.1914C>A (p.Ile638=) c.1872C>A (p.Ile624=) c.945C>A (p.Ile315=) | |
20 | g.63407335A>C | CA409639440 | KCNQ2 | c.1982T>G (p.Ile661Ser) c.1928T>G (p.Ile643Ser) c.1325T>G (p.Ile442Ser) n.85T>G c.1835T>G (p.Ile612Ser) c.1496T>G (p.Ile499Ser) c.1844T>G (p.Ile615Ser) c.1952T>G (p.Ile651Ser) c.1916T>G (p.Ile639Ser) c.1874T>G (p.Ile625Ser) c.1679+6115T>G (n.1679+6115T>G) c.1970T>G (p.Ile657Ser) c.2036T>G (p.Ile679Ser) c.2033T>G (p.Ile678Ser) c.2006T>G (p.Ile669Ser) c.1925T>G (p.Ile642Ser) c.1910T>G (p.Ile637Ser) c.1517T>G (p.Ile506Ser) c.1979T>G (p.Ile660Ser) c.1913T>G (p.Ile638Ser) c.1871T>G (p.Ile624Ser) c.944T>G (p.Ile315Ser) | |
20 | g.63407335A>G | CA409639441 | KCNQ2 | c.1982T>C (p.Ile661Thr) c.1928T>C (p.Ile643Thr) c.1325T>C (p.Ile442Thr) n.85T>C c.1835T>C (p.Ile612Thr) c.1496T>C (p.Ile499Thr) c.1844T>C (p.Ile615Thr) c.1952T>C (p.Ile651Thr) c.1916T>C (p.Ile639Thr) c.1874T>C (p.Ile625Thr) c.1679+6115T>C (n.1679+6115T>C) c.1970T>C (p.Ile657Thr) c.2036T>C (p.Ile679Thr) c.2033T>C (p.Ile678Thr) c.2006T>C (p.Ile669Thr) c.1925T>C (p.Ile642Thr) c.1910T>C (p.Ile637Thr) c.1517T>C (p.Ile506Thr) c.1979T>C (p.Ile660Thr) c.1913T>C (p.Ile638Thr) c.1871T>C (p.Ile624Thr) c.944T>C (p.Ile315Thr) | |
20 | g.63407335A>T | CA409639439 | KCNQ2 | c.1982T>A (p.Ile661Asn) c.1928T>A (p.Ile643Asn) c.1325T>A (p.Ile442Asn) n.85T>A c.1835T>A (p.Ile612Asn) c.1496T>A (p.Ile499Asn) c.1844T>A (p.Ile615Asn) c.1952T>A (p.Ile651Asn) c.1916T>A (p.Ile639Asn) c.1874T>A (p.Ile625Asn) c.1679+6115T>A (n.1679+6115T>A) c.1970T>A (p.Ile657Asn) c.2036T>A (p.Ile679Asn) c.2033T>A (p.Ile678Asn) c.2006T>A (p.Ile669Asn) c.1925T>A (p.Ile642Asn) c.1910T>A (p.Ile637Asn) c.1517T>A (p.Ile506Asn) c.1979T>A (p.Ile660Asn) c.1913T>A (p.Ile638Asn) c.1871T>A (p.Ile624Asn) c.944T>A (p.Ile315Asn) | |
20 | g.63407336T>A | CA409639443 | KCNQ2 | c.1981A>T (p.Ile661Phe) c.1927A>T (p.Ile643Phe) c.1324A>T (p.Ile442Phe) n.84A>T c.1834A>T (p.Ile612Phe) c.1495A>T (p.Ile499Phe) c.1843A>T (p.Ile615Phe) c.1951A>T (p.Ile651Phe) c.1915A>T (p.Ile639Phe) c.1873A>T (p.Ile625Phe) c.1679+6114A>T (n.1679+6114A>T) c.1969A>T (p.Ile657Phe) c.2035A>T (p.Ile679Phe) c.2032A>T (p.Ile678Phe) c.2005A>T (p.Ile669Phe) c.1924A>T (p.Ile642Phe) c.1909A>T (p.Ile637Phe) c.1516A>T (p.Ile506Phe) c.1978A>T (p.Ile660Phe) c.1912A>T (p.Ile638Phe) c.1870A>T (p.Ile624Phe) c.943A>T (p.Ile315Phe) | |
20 | g.63407336T>C | CA317422617 | KCNQ2 | c.1981A>G (p.Ile661Val) c.1927A>G (p.Ile643Val) c.1324A>G (p.Ile442Val) n.84A>G c.1834A>G (p.Ile612Val) c.1495A>G (p.Ile499Val) c.1843A>G (p.Ile615Val) c.1951A>G (p.Ile651Val) c.1915A>G (p.Ile639Val) c.1873A>G (p.Ile625Val) c.1679+6114A>G (n.1679+6114A>G) c.1969A>G (p.Ile657Val) c.2035A>G (p.Ile679Val) c.2032A>G (p.Ile678Val) c.2005A>G (p.Ile669Val) c.1924A>G (p.Ile642Val) c.1909A>G (p.Ile637Val) c.1516A>G (p.Ile506Val) c.1978A>G (p.Ile660Val) c.1912A>G (p.Ile638Val) c.1870A>G (p.Ile624Val) c.943A>G (p.Ile315Val) | dbSNP |
20 | g.63407336T>G | CA409639444 | KCNQ2 | c.1981A>C (p.Ile661Leu) c.1927A>C (p.Ile643Leu) c.1324A>C (p.Ile442Leu) n.84A>C c.1834A>C (p.Ile612Leu) c.1495A>C (p.Ile499Leu) c.1843A>C (p.Ile615Leu) c.1951A>C (p.Ile651Leu) c.1915A>C (p.Ile639Leu) c.1873A>C (p.Ile625Leu) c.1679+6114A>C (n.1679+6114A>C) c.1969A>C (p.Ile657Leu) c.2035A>C (p.Ile679Leu) c.2032A>C (p.Ile678Leu) c.2005A>C (p.Ile669Leu) c.1924A>C (p.Ile642Leu) c.1909A>C (p.Ile637Leu) c.1516A>C (p.Ile506Leu) c.1978A>C (p.Ile660Leu) c.1912A>C (p.Ile638Leu) c.1870A>C (p.Ile624Leu) c.943A>C (p.Ile315Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407336T= | CA2374774556 | KCNQ2 | c.1981A= (p.Ile661=) c.1927A= (p.Ile643=) c.1324A= (p.Ile442=) n.84A= c.1834A= (p.Ile612=) c.1495A= (p.Ile499=) c.1843A= (p.Ile615=) c.1951A= (p.Ile651=) c.1915A= (p.Ile639=) c.1873A= (p.Ile625=) c.1679+6114A= (n.1679+6114A=) c.1969A= (p.Ile657=) c.2035A= (p.Ile679=) c.2032A= (p.Ile678=) c.2005A= (p.Ile669=) c.1924A= (p.Ile642=) c.1909A= (p.Ile637=) c.1516A= (p.Ile506=) c.1978A= (p.Ile660=) c.1912A= (p.Ile638=) c.1870A= (p.Ile624=) c.943A= (p.Ile315=) | |
20 | g.63407337A>C | CA409639448 | KCNQ2 | c.1980T>G (p.Asn660Lys) c.1926T>G (p.Asn642Lys) c.1323T>G (p.Asn441Lys) n.83T>G c.1833T>G (p.Asn611Lys) c.1494T>G (p.Asn498Lys) c.1842T>G (p.Asn614Lys) c.1950T>G (p.Asn650Lys) c.1914T>G (p.Asn638Lys) c.1872T>G (p.Asn624Lys) c.1679+6113T>G (n.1679+6113T>G) c.1968T>G (p.Asn656Lys) c.2034T>G (p.Asn678Lys) c.2031T>G (p.Asn677Lys) c.2004T>G (p.Asn668Lys) c.1923T>G (p.Asn641Lys) c.1908T>G (p.Asn636Lys) c.1515T>G (p.Asn505Lys) c.1977T>G (p.Asn659Lys) c.1911T>G (p.Asn637Lys) c.1869T>G (p.Asn623Lys) c.942T>G (p.Asn314Lys) | |
20 | g.63407337A>G | CA511339636 | KCNQ2 | c.1980T>C (p.Asn660=) c.1926T>C (p.Asn642=) c.1323T>C (p.Asn441=) n.83T>C c.1833T>C (p.Asn611=) c.1494T>C (p.Asn498=) c.1842T>C (p.Asn614=) c.1950T>C (p.Asn650=) c.1914T>C (p.Asn638=) c.1872T>C (p.Asn624=) c.1679+6113T>C (n.1679+6113T>C) c.1968T>C (p.Asn656=) c.2034T>C (p.Asn678=) c.2031T>C (p.Asn677=) c.2004T>C (p.Asn668=) c.1923T>C (p.Asn641=) c.1908T>C (p.Asn636=) c.1515T>C (p.Asn505=) c.1977T>C (p.Asn659=) c.1911T>C (p.Asn637=) c.1869T>C (p.Asn623=) c.942T>C (p.Asn314=) | gnomAD v4 |
20 | g.63407337A>T | CA409639449 | KCNQ2 | c.1980T>A (p.Asn660Lys) c.1926T>A (p.Asn642Lys) c.1323T>A (p.Asn441Lys) n.83T>A c.1833T>A (p.Asn611Lys) c.1494T>A (p.Asn498Lys) c.1842T>A (p.Asn614Lys) c.1950T>A (p.Asn650Lys) c.1914T>A (p.Asn638Lys) c.1872T>A (p.Asn624Lys) c.1679+6113T>A (n.1679+6113T>A) c.1968T>A (p.Asn656Lys) c.2034T>A (p.Asn678Lys) c.2031T>A (p.Asn677Lys) c.2004T>A (p.Asn668Lys) c.1923T>A (p.Asn641Lys) c.1908T>A (p.Asn636Lys) c.1515T>A (p.Asn505Lys) c.1977T>A (p.Asn659Lys) c.1911T>A (p.Asn637Lys) c.1869T>A (p.Asn623Lys) c.942T>A (p.Asn314Lys) | |
20 | g.63407338T>A | CA409639451 | KCNQ2 | c.1979A>T (p.Asn660Ile) c.1925A>T (p.Asn642Ile) c.1322A>T (p.Asn441Ile) n.82A>T c.1832A>T (p.Asn611Ile) c.1493A>T (p.Asn498Ile) c.1841A>T (p.Asn614Ile) c.1949A>T (p.Asn650Ile) c.1913A>T (p.Asn638Ile) c.1871A>T (p.Asn624Ile) c.1679+6112A>T (n.1679+6112A>T) c.1967A>T (p.Asn656Ile) c.2033A>T (p.Asn678Ile) c.2030A>T (p.Asn677Ile) c.2003A>T (p.Asn668Ile) c.1922A>T (p.Asn641Ile) c.1907A>T (p.Asn636Ile) c.1514A>T (p.Asn505Ile) c.1976A>T (p.Asn659Ile) c.1910A>T (p.Asn637Ile) c.1868A>T (p.Asn623Ile) c.941A>T (p.Asn314Ile) | |
20 | g.63407338T>C | CA409639455 | KCNQ2 | c.1979A>G (p.Asn660Ser) c.1925A>G (p.Asn642Ser) c.1322A>G (p.Asn441Ser) n.82A>G c.1832A>G (p.Asn611Ser) c.1493A>G (p.Asn498Ser) c.1841A>G (p.Asn614Ser) c.1949A>G (p.Asn650Ser) c.1913A>G (p.Asn638Ser) c.1871A>G (p.Asn624Ser) c.1679+6112A>G (n.1679+6112A>G) c.1967A>G (p.Asn656Ser) c.2033A>G (p.Asn678Ser) c.2030A>G (p.Asn677Ser) c.2003A>G (p.Asn668Ser) c.1922A>G (p.Asn641Ser) c.1907A>G (p.Asn636Ser) c.1514A>G (p.Asn505Ser) c.1976A>G (p.Asn659Ser) c.1910A>G (p.Asn637Ser) c.1868A>G (p.Asn623Ser) c.941A>G (p.Asn314Ser) | |
20 | g.63407338T>G | CA409639453 | KCNQ2 | c.1979A>C (p.Asn660Thr) c.1925A>C (p.Asn642Thr) c.1322A>C (p.Asn441Thr) n.82A>C c.1832A>C (p.Asn611Thr) c.1493A>C (p.Asn498Thr) c.1841A>C (p.Asn614Thr) c.1949A>C (p.Asn650Thr) c.1913A>C (p.Asn638Thr) c.1871A>C (p.Asn624Thr) c.1679+6112A>C (n.1679+6112A>C) c.1967A>C (p.Asn656Thr) c.2033A>C (p.Asn678Thr) c.2030A>C (p.Asn677Thr) c.2003A>C (p.Asn668Thr) c.1922A>C (p.Asn641Thr) c.1907A>C (p.Asn636Thr) c.1514A>C (p.Asn505Thr) c.1976A>C (p.Asn659Thr) c.1910A>C (p.Asn637Thr) c.1868A>C (p.Asn623Thr) c.941A>C (p.Asn314Thr) | |
20 | g.63407339T>A | CA409639457 | KCNQ2 | c.1978A>T (p.Asn660Tyr) c.1924A>T (p.Asn642Tyr) c.1321A>T (p.Asn441Tyr) n.81A>T c.1831A>T (p.Asn611Tyr) c.1492A>T (p.Asn498Tyr) c.1840A>T (p.Asn614Tyr) c.1948A>T (p.Asn650Tyr) c.1912A>T (p.Asn638Tyr) c.1870A>T (p.Asn624Tyr) c.1679+6111A>T (n.1679+6111A>T) c.1966A>T (p.Asn656Tyr) c.2032A>T (p.Asn678Tyr) c.2029A>T (p.Asn677Tyr) c.2002A>T (p.Asn668Tyr) c.1921A>T (p.Asn641Tyr) c.1906A>T (p.Asn636Tyr) c.1513A>T (p.Asn505Tyr) c.1975A>T (p.Asn659Tyr) c.1909A>T (p.Asn637Tyr) c.1867A>T (p.Asn623Tyr) c.940A>T (p.Asn314Tyr) | |
20 | g.63407339T>C | CA409639459 | KCNQ2 | c.1978A>G (p.Asn660Asp) c.1924A>G (p.Asn642Asp) c.1321A>G (p.Asn441Asp) n.81A>G c.1831A>G (p.Asn611Asp) c.1492A>G (p.Asn498Asp) c.1840A>G (p.Asn614Asp) c.1948A>G (p.Asn650Asp) c.1912A>G (p.Asn638Asp) c.1870A>G (p.Asn624Asp) c.1679+6111A>G (n.1679+6111A>G) c.1966A>G (p.Asn656Asp) c.2032A>G (p.Asn678Asp) c.2029A>G (p.Asn677Asp) c.2002A>G (p.Asn668Asp) c.1921A>G (p.Asn641Asp) c.1906A>G (p.Asn636Asp) c.1513A>G (p.Asn505Asp) c.1975A>G (p.Asn659Asp) c.1909A>G (p.Asn637Asp) c.1867A>G (p.Asn623Asp) c.940A>G (p.Asn314Asp) | |
20 | g.63407339T>G | CA409639458 | KCNQ2 | c.1978A>C (p.Asn660His) c.1924A>C (p.Asn642His) c.1321A>C (p.Asn441His) n.81A>C c.1831A>C (p.Asn611His) c.1492A>C (p.Asn498His) c.1840A>C (p.Asn614His) c.1948A>C (p.Asn650His) c.1912A>C (p.Asn638His) c.1870A>C (p.Asn624His) c.1679+6111A>C (n.1679+6111A>C) c.1966A>C (p.Asn656His) c.2032A>C (p.Asn678His) c.2029A>C (p.Asn677His) c.2002A>C (p.Asn668His) c.1921A>C (p.Asn641His) c.1906A>C (p.Asn636His) c.1513A>C (p.Asn505His) c.1975A>C (p.Asn659His) c.1909A>C (p.Asn637His) c.1867A>C (p.Asn623His) c.940A>C (p.Asn314His) | |
20 | g.63407340C>A | CA511339641 | KCNQ2 | c.1977G>T (p.Val659=) c.1923G>T (p.Val641=) c.1320G>T (p.Val440=) n.80G>T c.1830G>T (p.Val610=) c.1491G>T (p.Val497=) c.1839G>T (p.Val613=) c.1947G>T (p.Val649=) c.1911G>T (p.Val637=) c.1869G>T (p.Val623=) c.1679+6110G>T (n.1679+6110G>T) c.1965G>T (p.Val655=) c.2031G>T (p.Val677=) c.2028G>T (p.Val676=) c.2001G>T (p.Val667=) c.1920G>T (p.Val640=) c.1905G>T (p.Val635=) c.1512G>T (p.Val504=) c.1974G>T (p.Val658=) c.1908G>T (p.Val636=) c.1866G>T (p.Val622=) c.939G>T (p.Val313=) | |
20 | g.63407340C>G | CA511339644 | KCNQ2 | c.1977G>C (p.Val659=) c.1923G>C (p.Val641=) c.1320G>C (p.Val440=) n.80G>C c.1830G>C (p.Val610=) c.1491G>C (p.Val497=) c.1839G>C (p.Val613=) c.1947G>C (p.Val649=) c.1911G>C (p.Val637=) c.1869G>C (p.Val623=) c.1679+6110G>C (n.1679+6110G>C) c.1965G>C (p.Val655=) c.2031G>C (p.Val677=) c.2028G>C (p.Val676=) c.2001G>C (p.Val667=) c.1920G>C (p.Val640=) c.1905G>C (p.Val635=) c.1512G>C (p.Val504=) c.1974G>C (p.Val658=) c.1908G>C (p.Val636=) c.1866G>C (p.Val622=) c.939G>C (p.Val313=) | |
20 | g.63407340C>T | CA511339647 | KCNQ2 | c.1977G>A (p.Val659=) c.1923G>A (p.Val641=) c.1320G>A (p.Val440=) n.80G>A c.1830G>A (p.Val610=) c.1491G>A (p.Val497=) c.1839G>A (p.Val613=) c.1947G>A (p.Val649=) c.1911G>A (p.Val637=) c.1869G>A (p.Val623=) c.1679+6110G>A (n.1679+6110G>A) c.1965G>A (p.Val655=) c.2031G>A (p.Val677=) c.2028G>A (p.Val676=) c.2001G>A (p.Val667=) c.1920G>A (p.Val640=) c.1905G>A (p.Val635=) c.1512G>A (p.Val504=) c.1974G>A (p.Val658=) c.1908G>A (p.Val636=) c.1866G>A (p.Val622=) c.939G>A (p.Val313=) | ClinVar dbSNP |
20 | g.63407341A>C | CA409639460 | KCNQ2 | c.1976T>G (p.Val659Gly) c.1922T>G (p.Val641Gly) c.1319T>G (p.Val440Gly) n.79T>G c.1829T>G (p.Val610Gly) c.1490T>G (p.Val497Gly) c.1838T>G (p.Val613Gly) c.1946T>G (p.Val649Gly) c.1910T>G (p.Val637Gly) c.1868T>G (p.Val623Gly) c.1679+6109T>G (n.1679+6109T>G) c.1964T>G (p.Val655Gly) c.2030T>G (p.Val677Gly) c.2027T>G (p.Val676Gly) c.2000T>G (p.Val667Gly) c.1919T>G (p.Val640Gly) c.1904T>G (p.Val635Gly) c.1511T>G (p.Val504Gly) c.1973T>G (p.Val658Gly) c.1907T>G (p.Val636Gly) c.1865T>G (p.Val622Gly) c.938T>G (p.Val313Gly) | |
20 | g.63407341A>G | CA409639462 | KCNQ2 | c.1976T>C (p.Val659Ala) c.1922T>C (p.Val641Ala) c.1319T>C (p.Val440Ala) n.79T>C c.1829T>C (p.Val610Ala) c.1490T>C (p.Val497Ala) c.1838T>C (p.Val613Ala) c.1946T>C (p.Val649Ala) c.1910T>C (p.Val637Ala) c.1868T>C (p.Val623Ala) c.1679+6109T>C (n.1679+6109T>C) c.1964T>C (p.Val655Ala) c.2030T>C (p.Val677Ala) c.2027T>C (p.Val676Ala) c.2000T>C (p.Val667Ala) c.1919T>C (p.Val640Ala) c.1904T>C (p.Val635Ala) c.1511T>C (p.Val504Ala) c.1973T>C (p.Val658Ala) c.1907T>C (p.Val636Ala) c.1865T>C (p.Val622Ala) c.938T>C (p.Val313Ala) | |
20 | g.63407341A>T | CA409639461 | KCNQ2 | c.1976T>A (p.Val659Glu) c.1922T>A (p.Val641Glu) c.1319T>A (p.Val440Glu) n.79T>A c.1829T>A (p.Val610Glu) c.1490T>A (p.Val497Glu) c.1838T>A (p.Val613Glu) c.1946T>A (p.Val649Glu) c.1910T>A (p.Val637Glu) c.1868T>A (p.Val623Glu) c.1679+6109T>A (n.1679+6109T>A) c.1964T>A (p.Val655Glu) c.2030T>A (p.Val677Glu) c.2027T>A (p.Val676Glu) c.2000T>A (p.Val667Glu) c.1919T>A (p.Val640Glu) c.1904T>A (p.Val635Glu) c.1511T>A (p.Val504Glu) c.1973T>A (p.Val658Glu) c.1907T>A (p.Val636Glu) c.1865T>A (p.Val622Glu) c.938T>A (p.Val313Glu) | |
20 | g.63407342C>A | CA409639463 | KCNQ2 | c.1975G>T (p.Val659Leu) c.1921G>T (p.Val641Leu) c.1318G>T (p.Val440Leu) n.78G>T c.1828G>T (p.Val610Leu) c.1489G>T (p.Val497Leu) c.1837G>T (p.Val613Leu) c.1945G>T (p.Val649Leu) c.1909G>T (p.Val637Leu) c.1867G>T (p.Val623Leu) c.1679+6108G>T (n.1679+6108G>T) c.1963G>T (p.Val655Leu) c.2029G>T (p.Val677Leu) c.2026G>T (p.Val676Leu) c.1999G>T (p.Val667Leu) c.1918G>T (p.Val640Leu) c.1903G>T (p.Val635Leu) c.1510G>T (p.Val504Leu) c.1972G>T (p.Val658Leu) c.1906G>T (p.Val636Leu) c.1864G>T (p.Val622Leu) c.937G>T (p.Val313Leu) | |
20 | g.63407342C= | CA2374774557 | KCNQ2 | c.1975G= (p.Val659=) c.1921G= (p.Val641=) c.1318G= (p.Val440=) n.78G= c.1828G= (p.Val610=) c.1489G= (p.Val497=) c.1837G= (p.Val613=) c.1945G= (p.Val649=) c.1909G= (p.Val637=) c.1867G= (p.Val623=) c.1679+6108G= (n.1679+6108G=) c.1963G= (p.Val655=) c.2029G= (p.Val677=) c.2026G= (p.Val676=) c.1999G= (p.Val667=) c.1918G= (p.Val640=) c.1903G= (p.Val635=) c.1510G= (p.Val504=) c.1972G= (p.Val658=) c.1906G= (p.Val636=) c.1864G= (p.Val622=) c.937G= (p.Val313=) | |
20 | g.63407342C>G | CA409639464 | KCNQ2 | c.1975G>C (p.Val659Leu) c.1921G>C (p.Val641Leu) c.1318G>C (p.Val440Leu) n.78G>C c.1828G>C (p.Val610Leu) c.1489G>C (p.Val497Leu) c.1837G>C (p.Val613Leu) c.1945G>C (p.Val649Leu) c.1909G>C (p.Val637Leu) c.1867G>C (p.Val623Leu) c.1679+6108G>C (n.1679+6108G>C) c.1963G>C (p.Val655Leu) c.2029G>C (p.Val677Leu) c.2026G>C (p.Val676Leu) c.1999G>C (p.Val667Leu) c.1918G>C (p.Val640Leu) c.1903G>C (p.Val635Leu) c.1510G>C (p.Val504Leu) c.1972G>C (p.Val658Leu) c.1906G>C (p.Val636Leu) c.1864G>C (p.Val622Leu) c.937G>C (p.Val313Leu) | gnomAD v4 |
20 | g.63407342C>T | CA9958199 | KCNQ2 | c.1975G>A (p.Val659Met) c.1921G>A (p.Val641Met) c.1318G>A (p.Val440Met) n.78G>A c.1828G>A (p.Val610Met) c.1489G>A (p.Val497Met) c.1837G>A (p.Val613Met) c.1945G>A (p.Val649Met) c.1909G>A (p.Val637Met) c.1867G>A (p.Val623Met) c.1679+6108G>A (n.1679+6108G>A) c.1963G>A (p.Val655Met) c.2029G>A (p.Val677Met) c.2026G>A (p.Val676Met) c.1999G>A (p.Val667Met) c.1918G>A (p.Val640Met) c.1903G>A (p.Val635Met) c.1510G>A (p.Val504Met) c.1972G>A (p.Val658Met) c.1906G>A (p.Val636Met) c.1864G>A (p.Val622Met) c.937G>A (p.Val313Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63407343del | CA2695230037 | KCNQ2 | c.1975del (p.Val659Ter) c.1921del (p.Val641Ter) c.1318del (p.Val440Ter) n.78del c.1828del (p.Val610Ter) c.1489del (p.Val497Ter) c.1837del (p.Val613Ter) c.1945del (p.Val649Ter) c.1909del (p.Val637Ter) c.1867del (p.Val623Ter) c.1679+6108del (n.1679+6108del) c.1963del (p.Val655Ter) c.2029del (p.Val677Ter) c.2026del (p.Val676Ter) c.1999del (p.Val667Ter) c.1918del (p.Val640Ter) c.1903del (p.Val635Ter) c.1510del (p.Val504Ter) c.1972del (p.Val658Ter) c.1906del (p.Val636Ter) c.1864del (p.Val622Ter) c.937del (p.Val313Ter) | |
20 | g.63407343C>A | CA511339651 | KCNQ2 | c.1974G>T (p.Leu658=) c.1920G>T (p.Leu640=) c.1317G>T (p.Leu439=) n.77G>T c.1827G>T (p.Leu609=) c.1488G>T (p.Leu496=) c.1836G>T (p.Leu612=) c.1944G>T (p.Leu648=) c.1908G>T (p.Leu636=) c.1866G>T (p.Leu622=) c.1679+6107G>T (n.1679+6107G>T) c.1962G>T (p.Leu654=) c.2028G>T (p.Leu676=) c.2025G>T (p.Leu675=) c.1998G>T (p.Leu666=) c.1917G>T (p.Leu639=) c.1902G>T (p.Leu634=) c.1509G>T (p.Leu503=) c.1971G>T (p.Leu657=) c.1905G>T (p.Leu635=) c.1863G>T (p.Leu621=) c.936G>T (p.Leu312=) | |
20 | g.63407343C>G | CA511339652 | KCNQ2 | c.1974G>C (p.Leu658=) c.1920G>C (p.Leu640=) c.1317G>C (p.Leu439=) n.77G>C c.1827G>C (p.Leu609=) c.1488G>C (p.Leu496=) c.1836G>C (p.Leu612=) c.1944G>C (p.Leu648=) c.1908G>C (p.Leu636=) c.1866G>C (p.Leu622=) c.1679+6107G>C (n.1679+6107G>C) c.1962G>C (p.Leu654=) c.2028G>C (p.Leu676=) c.2025G>C (p.Leu675=) c.1998G>C (p.Leu666=) c.1917G>C (p.Leu639=) c.1902G>C (p.Leu634=) c.1509G>C (p.Leu503=) c.1971G>C (p.Leu657=) c.1905G>C (p.Leu635=) c.1863G>C (p.Leu621=) c.936G>C (p.Leu312=) | |
20 | g.63407343C>T | CA511339654 | KCNQ2 | c.1974G>A (p.Leu658=) c.1920G>A (p.Leu640=) c.1317G>A (p.Leu439=) n.77G>A c.1827G>A (p.Leu609=) c.1488G>A (p.Leu496=) c.1836G>A (p.Leu612=) c.1944G>A (p.Leu648=) c.1908G>A (p.Leu636=) c.1866G>A (p.Leu622=) c.1679+6107G>A (n.1679+6107G>A) c.1962G>A (p.Leu654=) c.2028G>A (p.Leu676=) c.2025G>A (p.Leu675=) c.1998G>A (p.Leu666=) c.1917G>A (p.Leu639=) c.1902G>A (p.Leu634=) c.1509G>A (p.Leu503=) c.1971G>A (p.Leu657=) c.1905G>A (p.Leu635=) c.1863G>A (p.Leu621=) c.936G>A (p.Leu312=) | |
20 | g.63407344A= | CA2374774558 | KCNQ2 | c.1973T= (p.Leu658=) c.1919T= (p.Leu640=) c.1316T= (p.Leu439=) n.76T= c.1826T= (p.Leu609=) c.1487T= (p.Leu496=) c.1835T= (p.Leu612=) c.1943T= (p.Leu648=) c.1907T= (p.Leu636=) c.1865T= (p.Leu622=) c.1679+6106T= (n.1679+6106T=) c.1961T= (p.Leu654=) c.2027T= (p.Leu676=) c.2024T= (p.Leu675=) c.1997T= (p.Leu666=) c.1916T= (p.Leu639=) c.1901T= (p.Leu634=) c.1508T= (p.Leu503=) c.1970T= (p.Leu657=) c.1904T= (p.Leu635=) c.1862T= (p.Leu621=) c.935T= (p.Leu312=) | |
20 | g.63407344A>C | CA409639467 | KCNQ2 | c.1973T>G (p.Leu658Arg) c.1919T>G (p.Leu640Arg) c.1316T>G (p.Leu439Arg) n.76T>G c.1826T>G (p.Leu609Arg) c.1487T>G (p.Leu496Arg) c.1835T>G (p.Leu612Arg) c.1943T>G (p.Leu648Arg) c.1907T>G (p.Leu636Arg) c.1865T>G (p.Leu622Arg) c.1679+6106T>G (n.1679+6106T>G) c.1961T>G (p.Leu654Arg) c.2027T>G (p.Leu676Arg) c.2024T>G (p.Leu675Arg) c.1997T>G (p.Leu666Arg) c.1916T>G (p.Leu639Arg) c.1901T>G (p.Leu634Arg) c.1508T>G (p.Leu503Arg) c.1970T>G (p.Leu657Arg) c.1904T>G (p.Leu635Arg) c.1862T>G (p.Leu621Arg) c.935T>G (p.Leu312Arg) | |
20 | g.63407344A>G | CA409639470 | KCNQ2 | c.1973T>C (p.Leu658Pro) c.1919T>C (p.Leu640Pro) c.1316T>C (p.Leu439Pro) n.76T>C c.1826T>C (p.Leu609Pro) c.1487T>C (p.Leu496Pro) c.1835T>C (p.Leu612Pro) c.1943T>C (p.Leu648Pro) c.1907T>C (p.Leu636Pro) c.1865T>C (p.Leu622Pro) c.1679+6106T>C (n.1679+6106T>C) c.1961T>C (p.Leu654Pro) c.2027T>C (p.Leu676Pro) c.2024T>C (p.Leu675Pro) c.1997T>C (p.Leu666Pro) c.1916T>C (p.Leu639Pro) c.1901T>C (p.Leu634Pro) c.1508T>C (p.Leu503Pro) c.1970T>C (p.Leu657Pro) c.1904T>C (p.Leu635Pro) c.1862T>C (p.Leu621Pro) c.935T>C (p.Leu312Pro) | ClinVar dbSNP |
20 | g.63407344A>T | CA409639472 | KCNQ2 | c.1973T>A (p.Leu658Gln) c.1919T>A (p.Leu640Gln) c.1316T>A (p.Leu439Gln) n.76T>A c.1826T>A (p.Leu609Gln) c.1487T>A (p.Leu496Gln) c.1835T>A (p.Leu612Gln) c.1943T>A (p.Leu648Gln) c.1907T>A (p.Leu636Gln) c.1865T>A (p.Leu622Gln) c.1679+6106T>A (n.1679+6106T>A) c.1961T>A (p.Leu654Gln) c.2027T>A (p.Leu676Gln) c.2024T>A (p.Leu675Gln) c.1997T>A (p.Leu666Gln) c.1916T>A (p.Leu639Gln) c.1901T>A (p.Leu634Gln) c.1508T>A (p.Leu503Gln) c.1970T>A (p.Leu657Gln) c.1904T>A (p.Leu635Gln) c.1862T>A (p.Leu621Gln) c.935T>A (p.Leu312Gln) | |
20 | g.63407345G>A | CA511339655 | KCNQ2 | c.1972C>T (p.Leu658=) c.1918C>T (p.Leu640=) c.1315C>T (p.Leu439=) n.75C>T c.1825C>T (p.Leu609=) c.1486C>T (p.Leu496=) c.1834C>T (p.Leu612=) c.1942C>T (p.Leu648=) c.1906C>T (p.Leu636=) c.1864C>T (p.Leu622=) c.1679+6105C>T (n.1679+6105C>T) c.1960C>T (p.Leu654=) c.2026C>T (p.Leu676=) c.2023C>T (p.Leu675=) c.1996C>T (p.Leu666=) c.1915C>T (p.Leu639=) c.1900C>T (p.Leu634=) c.1507C>T (p.Leu503=) c.1969C>T (p.Leu657=) c.1903C>T (p.Leu635=) c.1861C>T (p.Leu621=) c.934C>T (p.Leu312=) | |
20 | g.63407345G>C | CA409639475 | KCNQ2 | c.1972C>G (p.Leu658Val) c.1918C>G (p.Leu640Val) c.1315C>G (p.Leu439Val) n.75C>G c.1825C>G (p.Leu609Val) c.1486C>G (p.Leu496Val) c.1834C>G (p.Leu612Val) c.1942C>G (p.Leu648Val) c.1906C>G (p.Leu636Val) c.1864C>G (p.Leu622Val) c.1679+6105C>G (n.1679+6105C>G) c.1960C>G (p.Leu654Val) c.2026C>G (p.Leu676Val) c.2023C>G (p.Leu675Val) c.1996C>G (p.Leu666Val) c.1915C>G (p.Leu639Val) c.1900C>G (p.Leu634Val) c.1507C>G (p.Leu503Val) c.1969C>G (p.Leu657Val) c.1903C>G (p.Leu635Val) c.1861C>G (p.Leu621Val) c.934C>G (p.Leu312Val) | |
20 | g.63407345G= | CA2374774559 | KCNQ2 | c.1972C= (p.Leu658=) c.1918C= (p.Leu640=) c.1315C= (p.Leu439=) n.75C= c.1825C= (p.Leu609=) c.1486C= (p.Leu496=) c.1834C= (p.Leu612=) c.1942C= (p.Leu648=) c.1906C= (p.Leu636=) c.1864C= (p.Leu622=) c.1679+6105C= (n.1679+6105C=) c.1960C= (p.Leu654=) c.2026C= (p.Leu676=) c.2023C= (p.Leu675=) c.1996C= (p.Leu666=) c.1915C= (p.Leu639=) c.1900C= (p.Leu634=) c.1507C= (p.Leu503=) c.1969C= (p.Leu657=) c.1903C= (p.Leu635=) c.1861C= (p.Leu621=) c.934C= (p.Leu312=) | |
20 | g.63407345G>T | CA409639477 | KCNQ2 | c.1972C>A (p.Leu658Met) c.1918C>A (p.Leu640Met) c.1315C>A (p.Leu439Met) n.75C>A c.1825C>A (p.Leu609Met) c.1486C>A (p.Leu496Met) c.1834C>A (p.Leu612Met) c.1942C>A (p.Leu648Met) c.1906C>A (p.Leu636Met) c.1864C>A (p.Leu622Met) c.1679+6105C>A (n.1679+6105C>A) c.1960C>A (p.Leu654Met) c.2026C>A (p.Leu676Met) c.2023C>A (p.Leu675Met) c.1996C>A (p.Leu666Met) c.1915C>A (p.Leu639Met) c.1900C>A (p.Leu634Met) c.1507C>A (p.Leu503Met) c.1969C>A (p.Leu657Met) c.1903C>A (p.Leu635Met) c.1861C>A (p.Leu621Met) c.934C>A (p.Leu312Met) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63407346del | CA2695230038 | KCNQ2 | c.1972del (p.Leu658TrpfsTer2) c.1918del (p.Leu640TrpfsTer2) c.1315del (p.Leu439TrpfsTer2) n.75del c.1825del (p.Leu609TrpfsTer2) c.1486del (p.Leu496TrpfsTer2) c.1834del (p.Leu612TrpfsTer2) c.1942del (p.Leu648TrpfsTer2) c.1906del (p.Leu636TrpfsTer2) c.1864del (p.Leu622TrpfsTer2) c.1679+6105del (n.1679+6105del) c.1960del (p.Leu654TrpfsTer2) c.2026del (p.Leu676TrpfsTer2) c.2023del (p.Leu675TrpfsTer2) c.1996del (p.Leu666TrpfsTer2) c.1915del (p.Leu639TrpfsTer2) c.1900del (p.Leu634TrpfsTer2) c.1507del (p.Leu503TrpfsTer2) c.1969del (p.Leu657TrpfsTer2) c.1903del (p.Leu635TrpfsTer2) c.1861del (p.Leu621TrpfsTer2) c.934del (p.Leu312TrpfsTer2) | ClinVar |
20 | g.63407346G>A | CA511339656 | KCNQ2 | c.1971C>T (p.Phe657=) c.1917C>T (p.Phe639=) c.1314C>T (p.Phe438=) n.74C>T c.1824C>T (p.Phe608=) c.1485C>T (p.Phe495=) c.1833C>T (p.Phe611=) c.1941C>T (p.Phe647=) c.1905C>T (p.Phe635=) c.1863C>T (p.Phe621=) c.1679+6104C>T (n.1679+6104C>T) c.1959C>T (p.Phe653=) c.2025C>T (p.Phe675=) c.2022C>T (p.Phe674=) c.1995C>T (p.Phe665=) c.1914C>T (p.Phe638=) c.1899C>T (p.Phe633=) c.1506C>T (p.Phe502=) c.1968C>T (p.Phe656=) c.1902C>T (p.Phe634=) c.1860C>T (p.Phe620=) c.933C>T (p.Phe311=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407346G>C | CA409639479 | KCNQ2 | c.1971C>G (p.Phe657Leu) c.1917C>G (p.Phe639Leu) c.1314C>G (p.Phe438Leu) n.74C>G c.1824C>G (p.Phe608Leu) c.1485C>G (p.Phe495Leu) c.1833C>G (p.Phe611Leu) c.1941C>G (p.Phe647Leu) c.1905C>G (p.Phe635Leu) c.1863C>G (p.Phe621Leu) c.1679+6104C>G (n.1679+6104C>G) c.1959C>G (p.Phe653Leu) c.2025C>G (p.Phe675Leu) c.2022C>G (p.Phe674Leu) c.1995C>G (p.Phe665Leu) c.1914C>G (p.Phe638Leu) c.1899C>G (p.Phe633Leu) c.1506C>G (p.Phe502Leu) c.1968C>G (p.Phe656Leu) c.1902C>G (p.Phe634Leu) c.1860C>G (p.Phe620Leu) c.933C>G (p.Phe311Leu) | |
20 | g.63407346G= | CA2374774560 | KCNQ2 | c.1971C= (p.Phe657=) c.1917C= (p.Phe639=) c.1314C= (p.Phe438=) n.74C= c.1824C= (p.Phe608=) c.1485C= (p.Phe495=) c.1833C= (p.Phe611=) c.1941C= (p.Phe647=) c.1905C= (p.Phe635=) c.1863C= (p.Phe621=) c.1679+6104C= (n.1679+6104C=) c.1959C= (p.Phe653=) c.2025C= (p.Phe675=) c.2022C= (p.Phe674=) c.1995C= (p.Phe665=) c.1914C= (p.Phe638=) c.1899C= (p.Phe633=) c.1506C= (p.Phe502=) c.1968C= (p.Phe656=) c.1902C= (p.Phe634=) c.1860C= (p.Phe620=) c.933C= (p.Phe311=) | |
20 | g.63407346G>T | CA409639481 | KCNQ2 | c.1971C>A (p.Phe657Leu) c.1917C>A (p.Phe639Leu) c.1314C>A (p.Phe438Leu) n.74C>A c.1824C>A (p.Phe608Leu) c.1485C>A (p.Phe495Leu) c.1833C>A (p.Phe611Leu) c.1941C>A (p.Phe647Leu) c.1905C>A (p.Phe635Leu) c.1863C>A (p.Phe621Leu) c.1679+6104C>A (n.1679+6104C>A) c.1959C>A (p.Phe653Leu) c.2025C>A (p.Phe675Leu) c.2022C>A (p.Phe674Leu) c.1995C>A (p.Phe665Leu) c.1914C>A (p.Phe638Leu) c.1899C>A (p.Phe633Leu) c.1506C>A (p.Phe502Leu) c.1968C>A (p.Phe656Leu) c.1902C>A (p.Phe634Leu) c.1860C>A (p.Phe620Leu) c.933C>A (p.Phe311Leu) | |
20 | g.63407347A>C | CA409639485 | KCNQ2 | c.1970T>G (p.Phe657Cys) c.1916T>G (p.Phe639Cys) c.1313T>G (p.Phe438Cys) n.73T>G c.1823T>G (p.Phe608Cys) c.1484T>G (p.Phe495Cys) c.1832T>G (p.Phe611Cys) c.1940T>G (p.Phe647Cys) c.1904T>G (p.Phe635Cys) c.1862T>G (p.Phe621Cys) c.1679+6103T>G (n.1679+6103T>G) c.1958T>G (p.Phe653Cys) c.2024T>G (p.Phe675Cys) c.2021T>G (p.Phe674Cys) c.1994T>G (p.Phe665Cys) c.1913T>G (p.Phe638Cys) c.1898T>G (p.Phe633Cys) c.1505T>G (p.Phe502Cys) c.1967T>G (p.Phe656Cys) c.1901T>G (p.Phe634Cys) c.1859T>G (p.Phe620Cys) c.932T>G (p.Phe311Cys) | |
20 | g.63407347A>G | CA409639483 | KCNQ2 | c.1970T>C (p.Phe657Ser) c.1916T>C (p.Phe639Ser) c.1313T>C (p.Phe438Ser) n.73T>C c.1823T>C (p.Phe608Ser) c.1484T>C (p.Phe495Ser) c.1832T>C (p.Phe611Ser) c.1940T>C (p.Phe647Ser) c.1904T>C (p.Phe635Ser) c.1862T>C (p.Phe621Ser) c.1679+6103T>C (n.1679+6103T>C) c.1958T>C (p.Phe653Ser) c.2024T>C (p.Phe675Ser) c.2021T>C (p.Phe674Ser) c.1994T>C (p.Phe665Ser) c.1913T>C (p.Phe638Ser) c.1898T>C (p.Phe633Ser) c.1505T>C (p.Phe502Ser) c.1967T>C (p.Phe656Ser) c.1901T>C (p.Phe634Ser) c.1859T>C (p.Phe620Ser) c.932T>C (p.Phe311Ser) | |
20 | g.63407347A>T | CA409639482 | KCNQ2 | c.1970T>A (p.Phe657Tyr) c.1916T>A (p.Phe639Tyr) c.1313T>A (p.Phe438Tyr) n.73T>A c.1823T>A (p.Phe608Tyr) c.1484T>A (p.Phe495Tyr) c.1832T>A (p.Phe611Tyr) c.1940T>A (p.Phe647Tyr) c.1904T>A (p.Phe635Tyr) c.1862T>A (p.Phe621Tyr) c.1679+6103T>A (n.1679+6103T>A) c.1958T>A (p.Phe653Tyr) c.2024T>A (p.Phe675Tyr) c.2021T>A (p.Phe674Tyr) c.1994T>A (p.Phe665Tyr) c.1913T>A (p.Phe638Tyr) c.1898T>A (p.Phe633Tyr) c.1505T>A (p.Phe502Tyr) c.1967T>A (p.Phe656Tyr) c.1901T>A (p.Phe634Tyr) c.1859T>A (p.Phe620Tyr) c.932T>A (p.Phe311Tyr) | |
20 | g.63407348A>C | CA409639488 | KCNQ2 | c.1969T>G (p.Phe657Val) c.1915T>G (p.Phe639Val) c.1312T>G (p.Phe438Val) n.72T>G c.1822T>G (p.Phe608Val) c.1483T>G (p.Phe495Val) c.1831T>G (p.Phe611Val) c.1939T>G (p.Phe647Val) c.1903T>G (p.Phe635Val) c.1861T>G (p.Phe621Val) c.1679+6102T>G (n.1679+6102T>G) c.1957T>G (p.Phe653Val) c.2023T>G (p.Phe675Val) c.2020T>G (p.Phe674Val) c.1993T>G (p.Phe665Val) c.1912T>G (p.Phe638Val) c.1897T>G (p.Phe633Val) c.1504T>G (p.Phe502Val) c.1966T>G (p.Phe656Val) c.1900T>G (p.Phe634Val) c.1858T>G (p.Phe620Val) c.931T>G (p.Phe311Val) | |
20 | g.63407348A>G | CA409639490 | KCNQ2 | c.1969T>C (p.Phe657Leu) c.1915T>C (p.Phe639Leu) c.1312T>C (p.Phe438Leu) n.72T>C c.1822T>C (p.Phe608Leu) c.1483T>C (p.Phe495Leu) c.1831T>C (p.Phe611Leu) c.1939T>C (p.Phe647Leu) c.1903T>C (p.Phe635Leu) c.1861T>C (p.Phe621Leu) c.1679+6102T>C (n.1679+6102T>C) c.1957T>C (p.Phe653Leu) c.2023T>C (p.Phe675Leu) c.2020T>C (p.Phe674Leu) c.1993T>C (p.Phe665Leu) c.1912T>C (p.Phe638Leu) c.1897T>C (p.Phe633Leu) c.1504T>C (p.Phe502Leu) c.1966T>C (p.Phe656Leu) c.1900T>C (p.Phe634Leu) c.1858T>C (p.Phe620Leu) c.931T>C (p.Phe311Leu) | |
20 | g.63407348A>T | CA409639493 | KCNQ2 | c.1969T>A (p.Phe657Ile) c.1915T>A (p.Phe639Ile) c.1312T>A (p.Phe438Ile) n.72T>A c.1822T>A (p.Phe608Ile) c.1483T>A (p.Phe495Ile) c.1831T>A (p.Phe611Ile) c.1939T>A (p.Phe647Ile) c.1903T>A (p.Phe635Ile) c.1861T>A (p.Phe621Ile) c.1679+6102T>A (n.1679+6102T>A) c.1957T>A (p.Phe653Ile) c.2023T>A (p.Phe675Ile) c.2020T>A (p.Phe674Ile) c.1993T>A (p.Phe665Ile) c.1912T>A (p.Phe638Ile) c.1897T>A (p.Phe633Ile) c.1504T>A (p.Phe502Ile) c.1966T>A (p.Phe656Ile) c.1900T>A (p.Phe634Ile) c.1858T>A (p.Phe620Ile) c.931T>A (p.Phe311Ile) | |
20 | g.63407349G>A | CA9958200 | KCNQ2 | c.1968C>T (p.Asp656=) c.1914C>T (p.Asp638=) c.1311C>T (p.Asp437=) n.71C>T c.1821C>T (p.Asp607=) c.1482C>T (p.Asp494=) c.1830C>T (p.Asp610=) c.1938C>T (p.Asp646=) c.1902C>T (p.Asp634=) c.1860C>T (p.Asp620=) c.1679+6101C>T (n.1679+6101C>T) c.1956C>T (p.Asp652=) c.2022C>T (p.Asp674=) c.2019C>T (p.Asp673=) c.1992C>T (p.Asp664=) c.1911C>T (p.Asp637=) c.1896C>T (p.Asp632=) c.1503C>T (p.Asp501=) c.1965C>T (p.Asp655=) c.1899C>T (p.Asp633=) c.1857C>T (p.Asp619=) c.930C>T (p.Asp310=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407349G>C | CA409639498 | KCNQ2 | c.1968C>G (p.Asp656Glu) c.1914C>G (p.Asp638Glu) c.1311C>G (p.Asp437Glu) n.71C>G c.1821C>G (p.Asp607Glu) c.1482C>G (p.Asp494Glu) c.1830C>G (p.Asp610Glu) c.1938C>G (p.Asp646Glu) c.1902C>G (p.Asp634Glu) c.1860C>G (p.Asp620Glu) c.1679+6101C>G (n.1679+6101C>G) c.1956C>G (p.Asp652Glu) c.2022C>G (p.Asp674Glu) c.2019C>G (p.Asp673Glu) c.1992C>G (p.Asp664Glu) c.1911C>G (p.Asp637Glu) c.1896C>G (p.Asp632Glu) c.1503C>G (p.Asp501Glu) c.1965C>G (p.Asp655Glu) c.1899C>G (p.Asp633Glu) c.1857C>G (p.Asp619Glu) c.930C>G (p.Asp310Glu) | |
20 | g.63407349G= | CA2374774561 | KCNQ2 | c.1968C= (p.Asp656=) c.1914C= (p.Asp638=) c.1311C= (p.Asp437=) n.71C= c.1821C= (p.Asp607=) c.1482C= (p.Asp494=) c.1830C= (p.Asp610=) c.1938C= (p.Asp646=) c.1902C= (p.Asp634=) c.1860C= (p.Asp620=) c.1679+6101C= (n.1679+6101C=) c.1956C= (p.Asp652=) c.2022C= (p.Asp674=) c.2019C= (p.Asp673=) c.1992C= (p.Asp664=) c.1911C= (p.Asp637=) c.1896C= (p.Asp632=) c.1503C= (p.Asp501=) c.1965C= (p.Asp655=) c.1899C= (p.Asp633=) c.1857C= (p.Asp619=) c.930C= (p.Asp310=) | |
20 | g.63407349G>T | CA409639499 | KCNQ2 | c.1968C>A (p.Asp656Glu) c.1914C>A (p.Asp638Glu) c.1311C>A (p.Asp437Glu) n.71C>A c.1821C>A (p.Asp607Glu) c.1482C>A (p.Asp494Glu) c.1830C>A (p.Asp610Glu) c.1938C>A (p.Asp646Glu) c.1902C>A (p.Asp634Glu) c.1860C>A (p.Asp620Glu) c.1679+6101C>A (n.1679+6101C>A) c.1956C>A (p.Asp652Glu) c.2022C>A (p.Asp674Glu) c.2019C>A (p.Asp673Glu) c.1992C>A (p.Asp664Glu) c.1911C>A (p.Asp637Glu) c.1896C>A (p.Asp632Glu) c.1503C>A (p.Asp501Glu) c.1965C>A (p.Asp655Glu) c.1899C>A (p.Asp633Glu) c.1857C>A (p.Asp619Glu) c.930C>A (p.Asp310Glu) | gnomAD v4 |
20 | g.63407350T>A | CA409639502 | KCNQ2 | c.1967A>T (p.Asp656Val) c.1913A>T (p.Asp638Val) c.1310A>T (p.Asp437Val) n.70A>T c.1820A>T (p.Asp607Val) c.1481A>T (p.Asp494Val) c.1829A>T (p.Asp610Val) c.1937A>T (p.Asp646Val) c.1901A>T (p.Asp634Val) c.1859A>T (p.Asp620Val) c.1679+6100A>T (n.1679+6100A>T) c.1955A>T (p.Asp652Val) c.2021A>T (p.Asp674Val) c.2018A>T (p.Asp673Val) c.1991A>T (p.Asp664Val) c.1910A>T (p.Asp637Val) c.1895A>T (p.Asp632Val) c.1502A>T (p.Asp501Val) c.1964A>T (p.Asp655Val) c.1898A>T (p.Asp633Val) c.1856A>T (p.Asp619Val) c.929A>T (p.Asp310Val) | |
20 | g.63407350T>C | CA409639504 | KCNQ2 | c.1967A>G (p.Asp656Gly) c.1913A>G (p.Asp638Gly) c.1310A>G (p.Asp437Gly) n.70A>G c.1820A>G (p.Asp607Gly) c.1481A>G (p.Asp494Gly) c.1829A>G (p.Asp610Gly) c.1937A>G (p.Asp646Gly) c.1901A>G (p.Asp634Gly) c.1859A>G (p.Asp620Gly) c.1679+6100A>G (n.1679+6100A>G) c.1955A>G (p.Asp652Gly) c.2021A>G (p.Asp674Gly) c.2018A>G (p.Asp673Gly) c.1991A>G (p.Asp664Gly) c.1910A>G (p.Asp637Gly) c.1895A>G (p.Asp632Gly) c.1502A>G (p.Asp501Gly) c.1964A>G (p.Asp655Gly) c.1898A>G (p.Asp633Gly) c.1856A>G (p.Asp619Gly) c.929A>G (p.Asp310Gly) | |
20 | g.63407350T>G | CA409639506 | KCNQ2 | c.1967A>C (p.Asp656Ala) c.1913A>C (p.Asp638Ala) c.1310A>C (p.Asp437Ala) n.70A>C c.1820A>C (p.Asp607Ala) c.1481A>C (p.Asp494Ala) c.1829A>C (p.Asp610Ala) c.1937A>C (p.Asp646Ala) c.1901A>C (p.Asp634Ala) c.1859A>C (p.Asp620Ala) c.1679+6100A>C (n.1679+6100A>C) c.1955A>C (p.Asp652Ala) c.2021A>C (p.Asp674Ala) c.2018A>C (p.Asp673Ala) c.1991A>C (p.Asp664Ala) c.1910A>C (p.Asp637Ala) c.1895A>C (p.Asp632Ala) c.1502A>C (p.Asp501Ala) c.1964A>C (p.Asp655Ala) c.1898A>C (p.Asp633Ala) c.1856A>C (p.Asp619Ala) c.929A>C (p.Asp310Ala) | gnomAD v4 |
20 | g.63407351C>A | CA409639509 | KCNQ2 | c.1966G>T (p.Asp656Tyr) c.1912G>T (p.Asp638Tyr) c.1309G>T (p.Asp437Tyr) n.69G>T c.1819G>T (p.Asp607Tyr) c.1480G>T (p.Asp494Tyr) c.1828G>T (p.Asp610Tyr) c.1936G>T (p.Asp646Tyr) c.1900G>T (p.Asp634Tyr) c.1858G>T (p.Asp620Tyr) c.1679+6099G>T (n.1679+6099G>T) c.1954G>T (p.Asp652Tyr) c.2020G>T (p.Asp674Tyr) c.2017G>T (p.Asp673Tyr) c.1990G>T (p.Asp664Tyr) c.1909G>T (p.Asp637Tyr) c.1894G>T (p.Asp632Tyr) c.1501G>T (p.Asp501Tyr) c.1963G>T (p.Asp655Tyr) c.1897G>T (p.Asp633Tyr) c.1855G>T (p.Asp619Tyr) c.928G>T (p.Asp310Tyr) | gnomAD v4 |
20 | g.63407351C>G | CA409639510 | KCNQ2 | c.1966G>C (p.Asp656His) c.1912G>C (p.Asp638His) c.1309G>C (p.Asp437His) n.69G>C c.1819G>C (p.Asp607His) c.1480G>C (p.Asp494His) c.1828G>C (p.Asp610His) c.1936G>C (p.Asp646His) c.1900G>C (p.Asp634His) c.1858G>C (p.Asp620His) c.1679+6099G>C (n.1679+6099G>C) c.1954G>C (p.Asp652His) c.2020G>C (p.Asp674His) c.2017G>C (p.Asp673His) c.1990G>C (p.Asp664His) c.1909G>C (p.Asp637His) c.1894G>C (p.Asp632His) c.1501G>C (p.Asp501His) c.1963G>C (p.Asp655His) c.1897G>C (p.Asp633His) c.1855G>C (p.Asp619His) c.928G>C (p.Asp310His) | |
20 | g.63407351C>T | CA409639511 | KCNQ2 | c.1966G>A (p.Asp656Asn) c.1912G>A (p.Asp638Asn) c.1309G>A (p.Asp437Asn) n.69G>A c.1819G>A (p.Asp607Asn) c.1480G>A (p.Asp494Asn) c.1828G>A (p.Asp610Asn) c.1936G>A (p.Asp646Asn) c.1900G>A (p.Asp634Asn) c.1858G>A (p.Asp620Asn) c.1679+6099G>A (n.1679+6099G>A) c.1954G>A (p.Asp652Asn) c.2020G>A (p.Asp674Asn) c.2017G>A (p.Asp673Asn) c.1990G>A (p.Asp664Asn) c.1909G>A (p.Asp637Asn) c.1894G>A (p.Asp632Asn) c.1501G>A (p.Asp501Asn) c.1963G>A (p.Asp655Asn) c.1897G>A (p.Asp633Asn) c.1855G>A (p.Asp619Asn) c.928G>A (p.Asp310Asn) | |
20 | g.63407352C>A | CA511339666 | KCNQ2 | c.1965G>T (p.Leu655=) c.1911G>T (p.Leu637=) c.1308G>T (p.Leu436=) n.68G>T c.1818G>T (p.Leu606=) c.1479G>T (p.Leu493=) c.1827G>T (p.Leu609=) c.1935G>T (p.Leu645=) c.1899G>T (p.Leu633=) c.1857G>T (p.Leu619=) c.1679+6098G>T (n.1679+6098G>T) c.1953G>T (p.Leu651=) c.2019G>T (p.Leu673=) c.2016G>T (p.Leu672=) c.1989G>T (p.Leu663=) c.1908G>T (p.Leu636=) c.1893G>T (p.Leu631=) c.1500G>T (p.Leu500=) c.1962G>T (p.Leu654=) c.1896G>T (p.Leu632=) c.1854G>T (p.Leu618=) c.927G>T (p.Leu309=) | dbSNP |
20 | g.63407352C= | CA2374774562 | KCNQ2 | c.1965G= (p.Leu655=) c.1911G= (p.Leu637=) c.1308G= (p.Leu436=) n.68G= c.1818G= (p.Leu606=) c.1479G= (p.Leu493=) c.1827G= (p.Leu609=) c.1935G= (p.Leu645=) c.1899G= (p.Leu633=) c.1857G= (p.Leu619=) c.1679+6098G= (n.1679+6098G=) c.1953G= (p.Leu651=) c.2019G= (p.Leu673=) c.2016G= (p.Leu672=) c.1989G= (p.Leu663=) c.1908G= (p.Leu636=) c.1893G= (p.Leu631=) c.1500G= (p.Leu500=) c.1962G= (p.Leu654=) c.1896G= (p.Leu632=) c.1854G= (p.Leu618=) c.927G= (p.Leu309=) | |
20 | g.63407352C>G | CA511339664 | KCNQ2 | c.1965G>C (p.Leu655=) c.1911G>C (p.Leu637=) c.1308G>C (p.Leu436=) n.68G>C c.1818G>C (p.Leu606=) c.1479G>C (p.Leu493=) c.1827G>C (p.Leu609=) c.1935G>C (p.Leu645=) c.1899G>C (p.Leu633=) c.1857G>C (p.Leu619=) c.1679+6098G>C (n.1679+6098G>C) c.1953G>C (p.Leu651=) c.2019G>C (p.Leu673=) c.2016G>C (p.Leu672=) c.1989G>C (p.Leu663=) c.1908G>C (p.Leu636=) c.1893G>C (p.Leu631=) c.1500G>C (p.Leu500=) c.1962G>C (p.Leu654=) c.1896G>C (p.Leu632=) c.1854G>C (p.Leu618=) c.927G>C (p.Leu309=) | |
20 | g.63407352C>T | CA317422633 | KCNQ2 | c.1965G>A (p.Leu655=) c.1911G>A (p.Leu637=) c.1308G>A (p.Leu436=) n.68G>A c.1818G>A (p.Leu606=) c.1479G>A (p.Leu493=) c.1827G>A (p.Leu609=) c.1935G>A (p.Leu645=) c.1899G>A (p.Leu633=) c.1857G>A (p.Leu619=) c.1679+6098G>A (n.1679+6098G>A) c.1953G>A (p.Leu651=) c.2019G>A (p.Leu673=) c.2016G>A (p.Leu672=) c.1989G>A (p.Leu663=) c.1908G>A (p.Leu636=) c.1893G>A (p.Leu631=) c.1500G>A (p.Leu500=) c.1962G>A (p.Leu654=) c.1896G>A (p.Leu632=) c.1854G>A (p.Leu618=) c.927G>A (p.Leu309=) | dbSNP gnomAD v4 |
20 | g.63407353A= | CA2374774563 | KCNQ2 | c.1964T= (p.Leu655=) c.1910T= (p.Leu637=) c.1307T= (p.Leu436=) n.67T= c.1817T= (p.Leu606=) c.1478T= (p.Leu493=) c.1826T= (p.Leu609=) c.1934T= (p.Leu645=) c.1898T= (p.Leu633=) c.1856T= (p.Leu619=) c.1679+6097T= (n.1679+6097T=) c.1952T= (p.Leu651=) c.2018T= (p.Leu673=) c.2015T= (p.Leu672=) c.1988T= (p.Leu663=) c.1907T= (p.Leu636=) c.1892T= (p.Leu631=) c.1499T= (p.Leu500=) c.1961T= (p.Leu654=) c.1895T= (p.Leu632=) c.1853T= (p.Leu618=) c.926T= (p.Leu309=) | |
20 | g.63407353A>C | CA342478 | KCNQ2 | c.1964T>G (p.Leu655Arg) c.1910T>G (p.Leu637Arg) c.1307T>G (p.Leu436Arg) n.67T>G c.1817T>G (p.Leu606Arg) c.1478T>G (p.Leu493Arg) c.1826T>G (p.Leu609Arg) c.1934T>G (p.Leu645Arg) c.1898T>G (p.Leu633Arg) c.1856T>G (p.Leu619Arg) c.1679+6097T>G (n.1679+6097T>G) c.1952T>G (p.Leu651Arg) c.2018T>G (p.Leu673Arg) c.2015T>G (p.Leu672Arg) c.1988T>G (p.Leu663Arg) c.1907T>G (p.Leu636Arg) c.1892T>G (p.Leu631Arg) c.1499T>G (p.Leu500Arg) c.1961T>G (p.Leu654Arg) c.1895T>G (p.Leu632Arg) c.1853T>G (p.Leu618Arg) c.926T>G (p.Leu309Arg) | ClinVar dbSNP |
20 | g.63407353A>G | CA409639515 | KCNQ2 | c.1964T>C (p.Leu655Pro) c.1910T>C (p.Leu637Pro) c.1307T>C (p.Leu436Pro) n.67T>C c.1817T>C (p.Leu606Pro) c.1478T>C (p.Leu493Pro) c.1826T>C (p.Leu609Pro) c.1934T>C (p.Leu645Pro) c.1898T>C (p.Leu633Pro) c.1856T>C (p.Leu619Pro) c.1679+6097T>C (n.1679+6097T>C) c.1952T>C (p.Leu651Pro) c.2018T>C (p.Leu673Pro) c.2015T>C (p.Leu672Pro) c.1988T>C (p.Leu663Pro) c.1907T>C (p.Leu636Pro) c.1892T>C (p.Leu631Pro) c.1499T>C (p.Leu500Pro) c.1961T>C (p.Leu654Pro) c.1895T>C (p.Leu632Pro) c.1853T>C (p.Leu618Pro) c.926T>C (p.Leu309Pro) | |
20 | g.63407353A>T | CA409639517 | KCNQ2 | c.1964T>A (p.Leu655Gln) c.1910T>A (p.Leu637Gln) c.1307T>A (p.Leu436Gln) n.67T>A c.1817T>A (p.Leu606Gln) c.1478T>A (p.Leu493Gln) c.1826T>A (p.Leu609Gln) c.1934T>A (p.Leu645Gln) c.1898T>A (p.Leu633Gln) c.1856T>A (p.Leu619Gln) c.1679+6097T>A (n.1679+6097T>A) c.1952T>A (p.Leu651Gln) c.2018T>A (p.Leu673Gln) c.2015T>A (p.Leu672Gln) c.1988T>A (p.Leu663Gln) c.1907T>A (p.Leu636Gln) c.1892T>A (p.Leu631Gln) c.1499T>A (p.Leu500Gln) c.1961T>A (p.Leu654Gln) c.1895T>A (p.Leu632Gln) c.1853T>A (p.Leu618Gln) c.926T>A (p.Leu309Gln) | |
20 | g.63407354G>A | CA16608416 | KCNQ2 | c.1963C>T (p.Leu655=) c.1909C>T (p.Leu637=) c.1306C>T (p.Leu436=) n.66C>T c.1816C>T (p.Leu606=) c.1477C>T (p.Leu493=) c.1825C>T (p.Leu609=) c.1933C>T (p.Leu645=) c.1897C>T (p.Leu633=) c.1855C>T (p.Leu619=) c.1679+6096C>T (n.1679+6096C>T) c.1951C>T (p.Leu651=) c.2017C>T (p.Leu673=) c.2014C>T (p.Leu672=) c.1987C>T (p.Leu663=) c.1906C>T (p.Leu636=) c.1891C>T (p.Leu631=) c.1498C>T (p.Leu500=) c.1960C>T (p.Leu654=) c.1894C>T (p.Leu632=) c.1852C>T (p.Leu618=) c.925C>T (p.Leu309=) | ClinVar dbSNP |
20 | g.63407354G>C | CA409639521 | KCNQ2 | c.1963C>G (p.Leu655Val) c.1909C>G (p.Leu637Val) c.1306C>G (p.Leu436Val) n.66C>G c.1816C>G (p.Leu606Val) c.1477C>G (p.Leu493Val) c.1825C>G (p.Leu609Val) c.1933C>G (p.Leu645Val) c.1897C>G (p.Leu633Val) c.1855C>G (p.Leu619Val) c.1679+6096C>G (n.1679+6096C>G) c.1951C>G (p.Leu651Val) c.2017C>G (p.Leu673Val) c.2014C>G (p.Leu672Val) c.1987C>G (p.Leu663Val) c.1906C>G (p.Leu636Val) c.1891C>G (p.Leu631Val) c.1498C>G (p.Leu500Val) c.1960C>G (p.Leu654Val) c.1894C>G (p.Leu632Val) c.1852C>G (p.Leu618Val) c.925C>G (p.Leu309Val) | |
20 | g.63407354G= | CA2374774564 | KCNQ2 | c.1963C= (p.Leu655=) c.1909C= (p.Leu637=) c.1306C= (p.Leu436=) n.66C= c.1816C= (p.Leu606=) c.1477C= (p.Leu493=) c.1825C= (p.Leu609=) c.1933C= (p.Leu645=) c.1897C= (p.Leu633=) c.1855C= (p.Leu619=) c.1679+6096C= (n.1679+6096C=) c.1951C= (p.Leu651=) c.2017C= (p.Leu673=) c.2014C= (p.Leu672=) c.1987C= (p.Leu663=) c.1906C= (p.Leu636=) c.1891C= (p.Leu631=) c.1498C= (p.Leu500=) c.1960C= (p.Leu654=) c.1894C= (p.Leu632=) c.1852C= (p.Leu618=) c.925C= (p.Leu309=) | |
20 | g.63407354G>T | CA409639523 | KCNQ2 | c.1963C>A (p.Leu655Met) c.1909C>A (p.Leu637Met) c.1306C>A (p.Leu436Met) n.66C>A c.1816C>A (p.Leu606Met) c.1477C>A (p.Leu493Met) c.1825C>A (p.Leu609Met) c.1933C>A (p.Leu645Met) c.1897C>A (p.Leu633Met) c.1855C>A (p.Leu619Met) c.1679+6096C>A (n.1679+6096C>A) c.1951C>A (p.Leu651Met) c.2017C>A (p.Leu673Met) c.2014C>A (p.Leu672Met) c.1987C>A (p.Leu663Met) c.1906C>A (p.Leu636Met) c.1891C>A (p.Leu631Met) c.1498C>A (p.Leu500Met) c.1960C>A (p.Leu654Met) c.1894C>A (p.Leu632Met) c.1852C>A (p.Leu618Met) c.925C>A (p.Leu309Met) | |
20 | g.63407354_63407357delinsGCTT | CA2374774565 | KCNQ2 | c.1960_1963delinsAAGC (p.Lys654=) c.1906_1909delinsAAGC (p.Lys636=) c.1303_1306delinsAAGC (p.Lys435=) n.63_66delinsAAGC c.1813_1816delinsAAGC (p.Lys605=) c.1474_1477delinsAAGC (p.Lys492=) c.1822_1825delinsAAGC (p.Lys608=) c.1930_1933delinsAAGC (p.Lys644=) c.1894_1897delinsAAGC (p.Lys632=) c.1852_1855delinsAAGC (p.Lys618=) c.1679+6093_1679+6096delinsAAGC (n.1679+6093_1679+6096delinsAAGC) c.1948_1951delinsAAGC (p.Lys650=) c.2014_2017delinsAAGC (p.Lys672=) c.2011_2014delinsAAGC (p.Lys671=) c.1984_1987delinsAAGC (p.Lys662=) c.1903_1906delinsAAGC (p.Lys635=) c.1888_1891delinsAAGC (p.Lys630=) c.1495_1498delinsAAGC (p.Lys499=) c.1957_1960delinsAAGC (p.Lys653=) c.1891_1894delinsAAGC (p.Lys631=) c.1849_1852delinsAAGC (p.Lys617=) c.922_925delinsAAGC (p.Lys308=) | |
20 | g.63407355C>A | CA409639526 | KCNQ2 | c.1962G>T (p.Lys654Asn) c.1908G>T (p.Lys636Asn) c.1305G>T (p.Lys435Asn) n.65G>T c.1815G>T (p.Lys605Asn) c.1476G>T (p.Lys492Asn) c.1824G>T (p.Lys608Asn) c.1932G>T (p.Lys644Asn) c.1896G>T (p.Lys632Asn) c.1854G>T (p.Lys618Asn) c.1679+6095G>T (n.1679+6095G>T) c.1950G>T (p.Lys650Asn) c.2016G>T (p.Lys672Asn) c.2013G>T (p.Lys671Asn) c.1986G>T (p.Lys662Asn) c.1905G>T (p.Lys635Asn) c.1890G>T (p.Lys630Asn) c.1497G>T (p.Lys499Asn) c.1959G>T (p.Lys653Asn) c.1893G>T (p.Lys631Asn) c.1851G>T (p.Lys617Asn) c.924G>T (p.Lys308Asn) | gnomAD v4 |
20 | g.63407355C= | CA2374774567 | KCNQ2 | c.1962G= (p.Lys654=) c.1908G= (p.Lys636=) c.1305G= (p.Lys435=) n.65G= c.1815G= (p.Lys605=) c.1476G= (p.Lys492=) c.1824G= (p.Lys608=) c.1932G= (p.Lys644=) c.1896G= (p.Lys632=) c.1854G= (p.Lys618=) c.1679+6095G= (n.1679+6095G=) c.1950G= (p.Lys650=) c.2016G= (p.Lys672=) c.2013G= (p.Lys671=) c.1986G= (p.Lys662=) c.1905G= (p.Lys635=) c.1890G= (p.Lys630=) c.1497G= (p.Lys499=) c.1959G= (p.Lys653=) c.1893G= (p.Lys631=) c.1851G= (p.Lys617=) c.924G= (p.Lys308=) | |
20 | g.63407355C>G | CA409639528 | KCNQ2 | c.1962G>C (p.Lys654Asn) c.1908G>C (p.Lys636Asn) c.1305G>C (p.Lys435Asn) n.65G>C c.1815G>C (p.Lys605Asn) c.1476G>C (p.Lys492Asn) c.1824G>C (p.Lys608Asn) c.1932G>C (p.Lys644Asn) c.1896G>C (p.Lys632Asn) c.1854G>C (p.Lys618Asn) c.1679+6095G>C (n.1679+6095G>C) c.1950G>C (p.Lys650Asn) c.2016G>C (p.Lys672Asn) c.2013G>C (p.Lys671Asn) c.1986G>C (p.Lys662Asn) c.1905G>C (p.Lys635Asn) c.1890G>C (p.Lys630Asn) c.1497G>C (p.Lys499Asn) c.1959G>C (p.Lys653Asn) c.1893G>C (p.Lys631Asn) c.1851G>C (p.Lys617Asn) c.924G>C (p.Lys308Asn) | COSMIC COSMIC COSMIC |
20 | g.63407355C>T | CA511339671 | KCNQ2 | c.1962G>A (p.Lys654=) c.1908G>A (p.Lys636=) c.1305G>A (p.Lys435=) n.65G>A c.1815G>A (p.Lys605=) c.1476G>A (p.Lys492=) c.1824G>A (p.Lys608=) c.1932G>A (p.Lys644=) c.1896G>A (p.Lys632=) c.1854G>A (p.Lys618=) c.1679+6095G>A (n.1679+6095G>A) c.1950G>A (p.Lys650=) c.2016G>A (p.Lys672=) c.2013G>A (p.Lys671=) c.1986G>A (p.Lys662=) c.1905G>A (p.Lys635=) c.1890G>A (p.Lys630=) c.1497G>A (p.Lys499=) c.1959G>A (p.Lys653=) c.1893G>A (p.Lys631=) c.1851G>A (p.Lys617=) c.924G>A (p.Lys308=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407360_63407362del | CA2374774566 | KCNQ2 | c.1960_1962del (p.Lys654del) c.1906_1908del (p.Lys636del) c.1303_1305del (p.Lys435del) n.63_65del c.1813_1815del (p.Lys605del) c.1474_1476del (p.Lys492del) c.1822_1824del (p.Lys608del) c.1930_1932del (p.Lys644del) c.1894_1896del (p.Lys632del) c.1852_1854del (p.Lys618del) c.1679+6093_1679+6095del (n.1679+6093_1679+6095del) c.1948_1950del (p.Lys650del) c.2014_2016del (p.Lys672del) c.2011_2013del (p.Lys671del) c.1984_1986del (p.Lys662del) c.1903_1905del (p.Lys635del) c.1888_1890del (p.Lys630del) c.1495_1497del (p.Lys499del) c.1957_1959del (p.Lys653del) c.1891_1893del (p.Lys631del) c.1849_1851del (p.Lys617del) c.922_924del (p.Lys308del) | ClinVar dbSNP |
20 | g.63407356T>A | CA409639530 | KCNQ2 | c.1961A>T (p.Lys654Met) c.1907A>T (p.Lys636Met) c.1304A>T (p.Lys435Met) n.64A>T c.1814A>T (p.Lys605Met) c.1475A>T (p.Lys492Met) c.1823A>T (p.Lys608Met) c.1931A>T (p.Lys644Met) c.1895A>T (p.Lys632Met) c.1853A>T (p.Lys618Met) c.1679+6094A>T (n.1679+6094A>T) c.1949A>T (p.Lys650Met) c.2015A>T (p.Lys672Met) c.2012A>T (p.Lys671Met) c.1985A>T (p.Lys662Met) c.1904A>T (p.Lys635Met) c.1889A>T (p.Lys630Met) c.1496A>T (p.Lys499Met) c.1958A>T (p.Lys653Met) c.1892A>T (p.Lys631Met) c.1850A>T (p.Lys617Met) c.923A>T (p.Lys308Met) | |
20 | g.63407356T>C | CA409639533 | KCNQ2 | c.1961A>G (p.Lys654Arg) c.1907A>G (p.Lys636Arg) c.1304A>G (p.Lys435Arg) n.64A>G c.1814A>G (p.Lys605Arg) c.1475A>G (p.Lys492Arg) c.1823A>G (p.Lys608Arg) c.1931A>G (p.Lys644Arg) c.1895A>G (p.Lys632Arg) c.1853A>G (p.Lys618Arg) c.1679+6094A>G (n.1679+6094A>G) c.1949A>G (p.Lys650Arg) c.2015A>G (p.Lys672Arg) c.2012A>G (p.Lys671Arg) c.1985A>G (p.Lys662Arg) c.1904A>G (p.Lys635Arg) c.1889A>G (p.Lys630Arg) c.1496A>G (p.Lys499Arg) c.1958A>G (p.Lys653Arg) c.1892A>G (p.Lys631Arg) c.1850A>G (p.Lys617Arg) c.923A>G (p.Lys308Arg) | |
20 | g.63407356T>G | CA409639534 | KCNQ2 | c.1961A>C (p.Lys654Thr) c.1907A>C (p.Lys636Thr) c.1304A>C (p.Lys435Thr) n.64A>C c.1814A>C (p.Lys605Thr) c.1475A>C (p.Lys492Thr) c.1823A>C (p.Lys608Thr) c.1931A>C (p.Lys644Thr) c.1895A>C (p.Lys632Thr) c.1853A>C (p.Lys618Thr) c.1679+6094A>C (n.1679+6094A>C) c.1949A>C (p.Lys650Thr) c.2015A>C (p.Lys672Thr) c.2012A>C (p.Lys671Thr) c.1985A>C (p.Lys662Thr) c.1904A>C (p.Lys635Thr) c.1889A>C (p.Lys630Thr) c.1496A>C (p.Lys499Thr) c.1958A>C (p.Lys653Thr) c.1892A>C (p.Lys631Thr) c.1850A>C (p.Lys617Thr) c.923A>C (p.Lys308Thr) | |
20 | g.63407357T>A | CA409639537 | KCNQ2 | c.1960A>T (p.Lys654Ter) c.1906A>T (p.Lys636Ter) c.1303A>T (p.Lys435Ter) n.63A>T c.1813A>T (p.Lys605Ter) c.1474A>T (p.Lys492Ter) c.1822A>T (p.Lys608Ter) c.1930A>T (p.Lys644Ter) c.1894A>T (p.Lys632Ter) c.1852A>T (p.Lys618Ter) c.1679+6093A>T (n.1679+6093A>T) c.1948A>T (p.Lys650Ter) c.2014A>T (p.Lys672Ter) c.2011A>T (p.Lys671Ter) c.1984A>T (p.Lys662Ter) c.1903A>T (p.Lys635Ter) c.1888A>T (p.Lys630Ter) c.1495A>T (p.Lys499Ter) c.1957A>T (p.Lys653Ter) c.1891A>T (p.Lys631Ter) c.1849A>T (p.Lys617Ter) c.922A>T (p.Lys308Ter) | |
20 | g.63407357T>C | CA409639539 | KCNQ2 | c.1960A>G (p.Lys654Glu) c.1906A>G (p.Lys636Glu) c.1303A>G (p.Lys435Glu) n.63A>G c.1813A>G (p.Lys605Glu) c.1474A>G (p.Lys492Glu) c.1822A>G (p.Lys608Glu) c.1930A>G (p.Lys644Glu) c.1894A>G (p.Lys632Glu) c.1852A>G (p.Lys618Glu) c.1679+6093A>G (n.1679+6093A>G) c.1948A>G (p.Lys650Glu) c.2014A>G (p.Lys672Glu) c.2011A>G (p.Lys671Glu) c.1984A>G (p.Lys662Glu) c.1903A>G (p.Lys635Glu) c.1888A>G (p.Lys630Glu) c.1495A>G (p.Lys499Glu) c.1957A>G (p.Lys653Glu) c.1891A>G (p.Lys631Glu) c.1849A>G (p.Lys617Glu) c.922A>G (p.Lys308Glu) | |
20 | g.63407357T>G | CA409639542 | KCNQ2 | c.1960A>C (p.Lys654Gln) c.1906A>C (p.Lys636Gln) c.1303A>C (p.Lys435Gln) n.63A>C c.1813A>C (p.Lys605Gln) c.1474A>C (p.Lys492Gln) c.1822A>C (p.Lys608Gln) c.1930A>C (p.Lys644Gln) c.1894A>C (p.Lys632Gln) c.1852A>C (p.Lys618Gln) c.1679+6093A>C (n.1679+6093A>C) c.1948A>C (p.Lys650Gln) c.2014A>C (p.Lys672Gln) c.2011A>C (p.Lys671Gln) c.1984A>C (p.Lys662Gln) c.1903A>C (p.Lys635Gln) c.1888A>C (p.Lys630Gln) c.1495A>C (p.Lys499Gln) c.1957A>C (p.Lys653Gln) c.1891A>C (p.Lys631Gln) c.1849A>C (p.Lys617Gln) c.922A>C (p.Lys308Gln) | |
20 | g.63407358C>A | CA409639546 | KCNQ2 | c.1959G>T (p.Lys653Asn) c.1905G>T (p.Lys635Asn) c.1302G>T (p.Lys434Asn) n.62G>T c.1812G>T (p.Lys604Asn) c.1473G>T (p.Lys491Asn) c.1821G>T (p.Lys607Asn) c.1929G>T (p.Lys643Asn) c.1893G>T (p.Lys631Asn) c.1851G>T (p.Lys617Asn) c.1679+6092G>T (n.1679+6092G>T) c.1947G>T (p.Lys649Asn) c.2013G>T (p.Lys671Asn) c.2010G>T (p.Lys670Asn) c.1983G>T (p.Lys661Asn) c.1902G>T (p.Lys634Asn) c.1887G>T (p.Lys629Asn) c.1494G>T (p.Lys498Asn) c.1956G>T (p.Lys652Asn) c.1890G>T (p.Lys630Asn) c.1848G>T (p.Lys616Asn) c.921G>T (p.Lys307Asn) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63407358C= | CA2374774568 | KCNQ2 | c.1959G= (p.Lys653=) c.1905G= (p.Lys635=) c.1302G= (p.Lys434=) n.62G= c.1812G= (p.Lys604=) c.1473G= (p.Lys491=) c.1821G= (p.Lys607=) c.1929G= (p.Lys643=) c.1893G= (p.Lys631=) c.1851G= (p.Lys617=) c.1679+6092G= (n.1679+6092G=) c.1947G= (p.Lys649=) c.2013G= (p.Lys671=) c.2010G= (p.Lys670=) c.1983G= (p.Lys661=) c.1902G= (p.Lys634=) c.1887G= (p.Lys629=) c.1494G= (p.Lys498=) c.1956G= (p.Lys652=) c.1890G= (p.Lys630=) c.1848G= (p.Lys616=) c.921G= (p.Lys307=) | |
20 | g.63407358C>G | CA409639544 | KCNQ2 | c.1959G>C (p.Lys653Asn) c.1905G>C (p.Lys635Asn) c.1302G>C (p.Lys434Asn) n.62G>C c.1812G>C (p.Lys604Asn) c.1473G>C (p.Lys491Asn) c.1821G>C (p.Lys607Asn) c.1929G>C (p.Lys643Asn) c.1893G>C (p.Lys631Asn) c.1851G>C (p.Lys617Asn) c.1679+6092G>C (n.1679+6092G>C) c.1947G>C (p.Lys649Asn) c.2013G>C (p.Lys671Asn) c.2010G>C (p.Lys670Asn) c.1983G>C (p.Lys661Asn) c.1902G>C (p.Lys634Asn) c.1887G>C (p.Lys629Asn) c.1494G>C (p.Lys498Asn) c.1956G>C (p.Lys652Asn) c.1890G>C (p.Lys630Asn) c.1848G>C (p.Lys616Asn) c.921G>C (p.Lys307Asn) | |
20 | g.63407358C>T | CA511339676 | KCNQ2 | c.1959G>A (p.Lys653=) c.1905G>A (p.Lys635=) c.1302G>A (p.Lys434=) n.62G>A c.1812G>A (p.Lys604=) c.1473G>A (p.Lys491=) c.1821G>A (p.Lys607=) c.1929G>A (p.Lys643=) c.1893G>A (p.Lys631=) c.1851G>A (p.Lys617=) c.1679+6092G>A (n.1679+6092G>A) c.1947G>A (p.Lys649=) c.2013G>A (p.Lys671=) c.2010G>A (p.Lys670=) c.1983G>A (p.Lys661=) c.1902G>A (p.Lys634=) c.1887G>A (p.Lys629=) c.1494G>A (p.Lys498=) c.1956G>A (p.Lys652=) c.1890G>A (p.Lys630=) c.1848G>A (p.Lys616=) c.921G>A (p.Lys307=) | gnomAD v4 |
20 | g.63407359T>A | CA409639548 | KCNQ2 | c.1958A>T (p.Lys653Met) c.1904A>T (p.Lys635Met) c.1301A>T (p.Lys434Met) n.61A>T c.1811A>T (p.Lys604Met) c.1472A>T (p.Lys491Met) c.1820A>T (p.Lys607Met) c.1928A>T (p.Lys643Met) c.1892A>T (p.Lys631Met) c.1850A>T (p.Lys617Met) c.1679+6091A>T (n.1679+6091A>T) c.1946A>T (p.Lys649Met) c.2012A>T (p.Lys671Met) c.2009A>T (p.Lys670Met) c.1982A>T (p.Lys661Met) c.1901A>T (p.Lys634Met) c.1886A>T (p.Lys629Met) c.1493A>T (p.Lys498Met) c.1955A>T (p.Lys652Met) c.1889A>T (p.Lys630Met) c.1847A>T (p.Lys616Met) c.920A>T (p.Lys307Met) | |
20 | g.63407359T>C | CA409639550 | KCNQ2 | c.1958A>G (p.Lys653Arg) c.1904A>G (p.Lys635Arg) c.1301A>G (p.Lys434Arg) n.61A>G c.1811A>G (p.Lys604Arg) c.1472A>G (p.Lys491Arg) c.1820A>G (p.Lys607Arg) c.1928A>G (p.Lys643Arg) c.1892A>G (p.Lys631Arg) c.1850A>G (p.Lys617Arg) c.1679+6091A>G (n.1679+6091A>G) c.1946A>G (p.Lys649Arg) c.2012A>G (p.Lys671Arg) c.2009A>G (p.Lys670Arg) c.1982A>G (p.Lys661Arg) c.1901A>G (p.Lys634Arg) c.1886A>G (p.Lys629Arg) c.1493A>G (p.Lys498Arg) c.1955A>G (p.Lys652Arg) c.1889A>G (p.Lys630Arg) c.1847A>G (p.Lys616Arg) c.920A>G (p.Lys307Arg) | |
20 | g.63407359T>G | CA409639552 | KCNQ2 | c.1958A>C (p.Lys653Thr) c.1904A>C (p.Lys635Thr) c.1301A>C (p.Lys434Thr) n.61A>C c.1811A>C (p.Lys604Thr) c.1472A>C (p.Lys491Thr) c.1820A>C (p.Lys607Thr) c.1928A>C (p.Lys643Thr) c.1892A>C (p.Lys631Thr) c.1850A>C (p.Lys617Thr) c.1679+6091A>C (n.1679+6091A>C) c.1946A>C (p.Lys649Thr) c.2012A>C (p.Lys671Thr) c.2009A>C (p.Lys670Thr) c.1982A>C (p.Lys661Thr) c.1901A>C (p.Lys634Thr) c.1886A>C (p.Lys629Thr) c.1493A>C (p.Lys498Thr) c.1955A>C (p.Lys652Thr) c.1889A>C (p.Lys630Thr) c.1847A>C (p.Lys616Thr) c.920A>C (p.Lys307Thr) | |
20 | g.63407360T>A | CA409639555 | KCNQ2 | c.1957A>T (p.Lys653Ter) c.1903A>T (p.Lys635Ter) c.1300A>T (p.Lys434Ter) n.60A>T c.1810A>T (p.Lys604Ter) c.1471A>T (p.Lys491Ter) c.1819A>T (p.Lys607Ter) c.1927A>T (p.Lys643Ter) c.1891A>T (p.Lys631Ter) c.1849A>T (p.Lys617Ter) c.1679+6090A>T (n.1679+6090A>T) c.1945A>T (p.Lys649Ter) c.2011A>T (p.Lys671Ter) c.2008A>T (p.Lys670Ter) c.1981A>T (p.Lys661Ter) c.1900A>T (p.Lys634Ter) c.1885A>T (p.Lys629Ter) c.1492A>T (p.Lys498Ter) c.1954A>T (p.Lys652Ter) c.1888A>T (p.Lys630Ter) c.1846A>T (p.Lys616Ter) c.919A>T (p.Lys307Ter) | |
20 | g.63407360T>C | CA409639557 | KCNQ2 | c.1957A>G (p.Lys653Glu) c.1903A>G (p.Lys635Glu) c.1300A>G (p.Lys434Glu) n.60A>G c.1810A>G (p.Lys604Glu) c.1471A>G (p.Lys491Glu) c.1819A>G (p.Lys607Glu) c.1927A>G (p.Lys643Glu) c.1891A>G (p.Lys631Glu) c.1849A>G (p.Lys617Glu) c.1679+6090A>G (n.1679+6090A>G) c.1945A>G (p.Lys649Glu) c.2011A>G (p.Lys671Glu) c.2008A>G (p.Lys670Glu) c.1981A>G (p.Lys661Glu) c.1900A>G (p.Lys634Glu) c.1885A>G (p.Lys629Glu) c.1492A>G (p.Lys498Glu) c.1954A>G (p.Lys652Glu) c.1888A>G (p.Lys630Glu) c.1846A>G (p.Lys616Glu) c.919A>G (p.Lys307Glu) | |
20 | g.63407360T>G | CA409639559 | KCNQ2 | c.1957A>C (p.Lys653Gln) c.1903A>C (p.Lys635Gln) c.1300A>C (p.Lys434Gln) n.60A>C c.1810A>C (p.Lys604Gln) c.1471A>C (p.Lys491Gln) c.1819A>C (p.Lys607Gln) c.1927A>C (p.Lys643Gln) c.1891A>C (p.Lys631Gln) c.1849A>C (p.Lys617Gln) c.1679+6090A>C (n.1679+6090A>C) c.1945A>C (p.Lys649Gln) c.2011A>C (p.Lys671Gln) c.2008A>C (p.Lys670Gln) c.1981A>C (p.Lys661Gln) c.1900A>C (p.Lys634Gln) c.1885A>C (p.Lys629Gln) c.1492A>C (p.Lys498Gln) c.1954A>C (p.Lys652Gln) c.1888A>C (p.Lys630Gln) c.1846A>C (p.Lys616Gln) c.919A>C (p.Lys307Gln) | |
20 | g.63407361C>A | CA409639561 | KCNQ2 | c.1956G>T (p.Glu652Asp) c.1902G>T (p.Glu634Asp) c.1299G>T (p.Glu433Asp) n.59G>T c.1809G>T (p.Glu603Asp) c.1470G>T (p.Glu490Asp) c.1818G>T (p.Glu606Asp) c.1926G>T (p.Glu642Asp) c.1890G>T (p.Glu630Asp) c.1848G>T (p.Glu616Asp) c.1679+6089G>T (n.1679+6089G>T) c.1944G>T (p.Glu648Asp) c.2010G>T (p.Glu670Asp) c.2007G>T (p.Glu669Asp) c.1980G>T (p.Glu660Asp) c.1899G>T (p.Glu633Asp) c.1884G>T (p.Glu628Asp) c.1491G>T (p.Glu497Asp) c.1953G>T (p.Glu651Asp) c.1887G>T (p.Glu629Asp) c.1845G>T (p.Glu615Asp) c.918G>T (p.Glu306Asp) | gnomAD v4 |
20 | g.63407361C= | CA2374774569 | KCNQ2 | c.1956G= (p.Glu652=) c.1902G= (p.Glu634=) c.1299G= (p.Glu433=) n.59G= c.1809G= (p.Glu603=) c.1470G= (p.Glu490=) c.1818G= (p.Glu606=) c.1926G= (p.Glu642=) c.1890G= (p.Glu630=) c.1848G= (p.Glu616=) c.1679+6089G= (n.1679+6089G=) c.1944G= (p.Glu648=) c.2010G= (p.Glu670=) c.2007G= (p.Glu669=) c.1980G= (p.Glu660=) c.1899G= (p.Glu633=) c.1884G= (p.Glu628=) c.1491G= (p.Glu497=) c.1953G= (p.Glu651=) c.1887G= (p.Glu629=) c.1845G= (p.Glu615=) c.918G= (p.Glu306=) | |
20 | g.63407361C>G | CA409639563 | KCNQ2 | c.1956G>C (p.Glu652Asp) c.1902G>C (p.Glu634Asp) c.1299G>C (p.Glu433Asp) n.59G>C c.1809G>C (p.Glu603Asp) c.1470G>C (p.Glu490Asp) c.1818G>C (p.Glu606Asp) c.1926G>C (p.Glu642Asp) c.1890G>C (p.Glu630Asp) c.1848G>C (p.Glu616Asp) c.1679+6089G>C (n.1679+6089G>C) c.1944G>C (p.Glu648Asp) c.2010G>C (p.Glu670Asp) c.2007G>C (p.Glu669Asp) c.1980G>C (p.Glu660Asp) c.1899G>C (p.Glu633Asp) c.1884G>C (p.Glu628Asp) c.1491G>C (p.Glu497Asp) c.1953G>C (p.Glu651Asp) c.1887G>C (p.Glu629Asp) c.1845G>C (p.Glu615Asp) c.918G>C (p.Glu306Asp) | |
20 | g.63407361C>T | CA9958201 | KCNQ2 | c.1956G>A (p.Glu652=) c.1902G>A (p.Glu634=) c.1299G>A (p.Glu433=) n.59G>A c.1809G>A (p.Glu603=) c.1470G>A (p.Glu490=) c.1818G>A (p.Glu606=) c.1926G>A (p.Glu642=) c.1890G>A (p.Glu630=) c.1848G>A (p.Glu616=) c.1679+6089G>A (n.1679+6089G>A) c.1944G>A (p.Glu648=) c.2010G>A (p.Glu670=) c.2007G>A (p.Glu669=) c.1980G>A (p.Glu660=) c.1899G>A (p.Glu633=) c.1884G>A (p.Glu628=) c.1491G>A (p.Glu497=) c.1953G>A (p.Glu651=) c.1887G>A (p.Glu629=) c.1845G>A (p.Glu615=) c.918G>A (p.Glu306=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407362T>A | CA409639566 | KCNQ2 | c.1955A>T (p.Glu652Val) c.1901A>T (p.Glu634Val) c.1298A>T (p.Glu433Val) n.58A>T c.1808A>T (p.Glu603Val) c.1469A>T (p.Glu490Val) c.1817A>T (p.Glu606Val) c.1925A>T (p.Glu642Val) c.1889A>T (p.Glu630Val) c.1847A>T (p.Glu616Val) c.1679+6088A>T (n.1679+6088A>T) c.1943A>T (p.Glu648Val) c.2009A>T (p.Glu670Val) c.2006A>T (p.Glu669Val) c.1979A>T (p.Glu660Val) c.1898A>T (p.Glu633Val) c.1883A>T (p.Glu628Val) c.1490A>T (p.Glu497Val) c.1952A>T (p.Glu651Val) c.1886A>T (p.Glu629Val) c.1844A>T (p.Glu615Val) c.917A>T (p.Glu306Val) | |
20 | g.63407362T>C | CA409639568 | KCNQ2 | c.1955A>G (p.Glu652Gly) c.1901A>G (p.Glu634Gly) c.1298A>G (p.Glu433Gly) n.58A>G c.1808A>G (p.Glu603Gly) c.1469A>G (p.Glu490Gly) c.1817A>G (p.Glu606Gly) c.1925A>G (p.Glu642Gly) c.1889A>G (p.Glu630Gly) c.1847A>G (p.Glu616Gly) c.1679+6088A>G (n.1679+6088A>G) c.1943A>G (p.Glu648Gly) c.2009A>G (p.Glu670Gly) c.2006A>G (p.Glu669Gly) c.1979A>G (p.Glu660Gly) c.1898A>G (p.Glu633Gly) c.1883A>G (p.Glu628Gly) c.1490A>G (p.Glu497Gly) c.1952A>G (p.Glu651Gly) c.1886A>G (p.Glu629Gly) c.1844A>G (p.Glu615Gly) c.917A>G (p.Glu306Gly) | gnomAD v4 |
20 | g.63407362T>G | CA409639570 | KCNQ2 | c.1955A>C (p.Glu652Ala) c.1901A>C (p.Glu634Ala) c.1298A>C (p.Glu433Ala) n.58A>C c.1808A>C (p.Glu603Ala) c.1469A>C (p.Glu490Ala) c.1817A>C (p.Glu606Ala) c.1925A>C (p.Glu642Ala) c.1889A>C (p.Glu630Ala) c.1847A>C (p.Glu616Ala) c.1679+6088A>C (n.1679+6088A>C) c.1943A>C (p.Glu648Ala) c.2009A>C (p.Glu670Ala) c.2006A>C (p.Glu669Ala) c.1979A>C (p.Glu660Ala) c.1898A>C (p.Glu633Ala) c.1883A>C (p.Glu628Ala) c.1490A>C (p.Glu497Ala) c.1952A>C (p.Glu651Ala) c.1886A>C (p.Glu629Ala) c.1844A>C (p.Glu615Ala) c.917A>C (p.Glu306Ala) | |
20 | g.63407363C>A | CA409639575 | KCNQ2 | c.1954G>T (p.Glu652Ter) c.1900G>T (p.Glu634Ter) c.1297G>T (p.Glu433Ter) n.57G>T c.1807G>T (p.Glu603Ter) c.1468G>T (p.Glu490Ter) c.1816G>T (p.Glu606Ter) c.1924G>T (p.Glu642Ter) c.1888G>T (p.Glu630Ter) c.1846G>T (p.Glu616Ter) c.1679+6087G>T (n.1679+6087G>T) c.1942G>T (p.Glu648Ter) c.2008G>T (p.Glu670Ter) c.2005G>T (p.Glu669Ter) c.1978G>T (p.Glu660Ter) c.1897G>T (p.Glu633Ter) c.1882G>T (p.Glu628Ter) c.1489G>T (p.Glu497Ter) c.1951G>T (p.Glu651Ter) c.1885G>T (p.Glu629Ter) c.1843G>T (p.Glu615Ter) c.916G>T (p.Glu306Ter) | gnomAD v4 |
20 | g.63407363C= | CA2374774570 | KCNQ2 | c.1954G= (p.Glu652=) c.1900G= (p.Glu634=) c.1297G= (p.Glu433=) n.57G= c.1807G= (p.Glu603=) c.1468G= (p.Glu490=) c.1816G= (p.Glu606=) c.1924G= (p.Glu642=) c.1888G= (p.Glu630=) c.1846G= (p.Glu616=) c.1679+6087G= (n.1679+6087G=) c.1942G= (p.Glu648=) c.2008G= (p.Glu670=) c.2005G= (p.Glu669=) c.1978G= (p.Glu660=) c.1897G= (p.Glu633=) c.1882G= (p.Glu628=) c.1489G= (p.Glu497=) c.1951G= (p.Glu651=) c.1885G= (p.Glu629=) c.1843G= (p.Glu615=) c.916G= (p.Glu306=) | |
20 | g.63407363C>G | CA409639576 | KCNQ2 | c.1954G>C (p.Glu652Gln) c.1900G>C (p.Glu634Gln) c.1297G>C (p.Glu433Gln) n.57G>C c.1807G>C (p.Glu603Gln) c.1468G>C (p.Glu490Gln) c.1816G>C (p.Glu606Gln) c.1924G>C (p.Glu642Gln) c.1888G>C (p.Glu630Gln) c.1846G>C (p.Glu616Gln) c.1679+6087G>C (n.1679+6087G>C) c.1942G>C (p.Glu648Gln) c.2008G>C (p.Glu670Gln) c.2005G>C (p.Glu669Gln) c.1978G>C (p.Glu660Gln) c.1897G>C (p.Glu633Gln) c.1882G>C (p.Glu628Gln) c.1489G>C (p.Glu497Gln) c.1951G>C (p.Glu651Gln) c.1885G>C (p.Glu629Gln) c.1843G>C (p.Glu615Gln) c.916G>C (p.Glu306Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407363C>T | CA409639573 | KCNQ2 | c.1954G>A (p.Glu652Lys) c.1900G>A (p.Glu634Lys) c.1297G>A (p.Glu433Lys) n.57G>A c.1807G>A (p.Glu603Lys) c.1468G>A (p.Glu490Lys) c.1816G>A (p.Glu606Lys) c.1924G>A (p.Glu642Lys) c.1888G>A (p.Glu630Lys) c.1846G>A (p.Glu616Lys) c.1679+6087G>A (n.1679+6087G>A) c.1942G>A (p.Glu648Lys) c.2008G>A (p.Glu670Lys) c.2005G>A (p.Glu669Lys) c.1978G>A (p.Glu660Lys) c.1897G>A (p.Glu633Lys) c.1882G>A (p.Glu628Lys) c.1489G>A (p.Glu497Lys) c.1951G>A (p.Glu651Lys) c.1885G>A (p.Glu629Lys) c.1843G>A (p.Glu615Lys) c.916G>A (p.Glu306Lys) | |
20 | g.63407364C>A | CA409639579 | KCNQ2 | c.1953G>T (p.Met651Ile) c.1899G>T (p.Met633Ile) c.1296G>T (p.Met432Ile) n.56G>T c.1806G>T (p.Met602Ile) c.1467G>T (p.Met489Ile) c.1815G>T (p.Met605Ile) c.1923G>T (p.Met641Ile) c.1887G>T (p.Met629Ile) c.1845G>T (p.Met615Ile) c.1679+6086G>T (n.1679+6086G>T) c.1941G>T (p.Met647Ile) c.2007G>T (p.Met669Ile) c.2004G>T (p.Met668Ile) c.1977G>T (p.Met659Ile) c.1896G>T (p.Met632Ile) c.1881G>T (p.Met627Ile) c.1488G>T (p.Met496Ile) c.1950G>T (p.Met650Ile) c.1884G>T (p.Met628Ile) c.1842G>T (p.Met614Ile) c.915G>T (p.Met305Ile) | |
20 | g.63407364C>G | CA409639581 | KCNQ2 | c.1953G>C (p.Met651Ile) c.1899G>C (p.Met633Ile) c.1296G>C (p.Met432Ile) n.56G>C c.1806G>C (p.Met602Ile) c.1467G>C (p.Met489Ile) c.1815G>C (p.Met605Ile) c.1923G>C (p.Met641Ile) c.1887G>C (p.Met629Ile) c.1845G>C (p.Met615Ile) c.1679+6086G>C (n.1679+6086G>C) c.1941G>C (p.Met647Ile) c.2007G>C (p.Met669Ile) c.2004G>C (p.Met668Ile) c.1977G>C (p.Met659Ile) c.1896G>C (p.Met632Ile) c.1881G>C (p.Met627Ile) c.1488G>C (p.Met496Ile) c.1950G>C (p.Met650Ile) c.1884G>C (p.Met628Ile) c.1842G>C (p.Met614Ile) c.915G>C (p.Met305Ile) | |
20 | g.63407364C>T | CA409639582 | KCNQ2 | c.1953G>A (p.Met651Ile) c.1899G>A (p.Met633Ile) c.1296G>A (p.Met432Ile) n.56G>A c.1806G>A (p.Met602Ile) c.1467G>A (p.Met489Ile) c.1815G>A (p.Met605Ile) c.1923G>A (p.Met641Ile) c.1887G>A (p.Met629Ile) c.1845G>A (p.Met615Ile) c.1679+6086G>A (n.1679+6086G>A) c.1941G>A (p.Met647Ile) c.2007G>A (p.Met669Ile) c.2004G>A (p.Met668Ile) c.1977G>A (p.Met659Ile) c.1896G>A (p.Met632Ile) c.1881G>A (p.Met627Ile) c.1488G>A (p.Met496Ile) c.1950G>A (p.Met650Ile) c.1884G>A (p.Met628Ile) c.1842G>A (p.Met614Ile) c.915G>A (p.Met305Ile) | COSMIC COSMIC COSMIC |
20 | g.63407365A= | CA2374774571 | KCNQ2 | c.1952T= (p.Met651=) c.1898T= (p.Met633=) c.1295T= (p.Met432=) n.55T= c.1805T= (p.Met602=) c.1466T= (p.Met489=) c.1814T= (p.Met605=) c.1922T= (p.Met641=) c.1886T= (p.Met629=) c.1844T= (p.Met615=) c.1679+6085T= (n.1679+6085T=) c.1940T= (p.Met647=) c.2006T= (p.Met669=) c.2003T= (p.Met668=) c.1976T= (p.Met659=) c.1895T= (p.Met632=) c.1880T= (p.Met627=) c.1487T= (p.Met496=) c.1949T= (p.Met650=) c.1883T= (p.Met628=) c.1841T= (p.Met614=) c.914T= (p.Met305=) | |
20 | g.63407365A>C | CA409639585 | KCNQ2 | c.1952T>G (p.Met651Arg) c.1898T>G (p.Met633Arg) c.1295T>G (p.Met432Arg) n.55T>G c.1805T>G (p.Met602Arg) c.1466T>G (p.Met489Arg) c.1814T>G (p.Met605Arg) c.1922T>G (p.Met641Arg) c.1886T>G (p.Met629Arg) c.1844T>G (p.Met615Arg) c.1679+6085T>G (n.1679+6085T>G) c.1940T>G (p.Met647Arg) c.2006T>G (p.Met669Arg) c.2003T>G (p.Met668Arg) c.1976T>G (p.Met659Arg) c.1895T>G (p.Met632Arg) c.1880T>G (p.Met627Arg) c.1487T>G (p.Met496Arg) c.1949T>G (p.Met650Arg) c.1883T>G (p.Met628Arg) c.1841T>G (p.Met614Arg) c.914T>G (p.Met305Arg) | |
20 | g.63407365A>G | CA9958202 | KCNQ2 | c.1952T>C (p.Met651Thr) c.1898T>C (p.Met633Thr) c.1295T>C (p.Met432Thr) n.55T>C c.1805T>C (p.Met602Thr) c.1466T>C (p.Met489Thr) c.1814T>C (p.Met605Thr) c.1922T>C (p.Met641Thr) c.1886T>C (p.Met629Thr) c.1844T>C (p.Met615Thr) c.1679+6085T>C (n.1679+6085T>C) c.1940T>C (p.Met647Thr) c.2006T>C (p.Met669Thr) c.2003T>C (p.Met668Thr) c.1976T>C (p.Met659Thr) c.1895T>C (p.Met632Thr) c.1880T>C (p.Met627Thr) c.1487T>C (p.Met496Thr) c.1949T>C (p.Met650Thr) c.1883T>C (p.Met628Thr) c.1841T>C (p.Met614Thr) c.914T>C (p.Met305Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407365A>T | CA409639589 | KCNQ2 | c.1952T>A (p.Met651Lys) c.1898T>A (p.Met633Lys) c.1295T>A (p.Met432Lys) n.55T>A c.1805T>A (p.Met602Lys) c.1466T>A (p.Met489Lys) c.1814T>A (p.Met605Lys) c.1922T>A (p.Met641Lys) c.1886T>A (p.Met629Lys) c.1844T>A (p.Met615Lys) c.1679+6085T>A (n.1679+6085T>A) c.1940T>A (p.Met647Lys) c.2006T>A (p.Met669Lys) c.2003T>A (p.Met668Lys) c.1976T>A (p.Met659Lys) c.1895T>A (p.Met632Lys) c.1880T>A (p.Met627Lys) c.1487T>A (p.Met496Lys) c.1949T>A (p.Met650Lys) c.1883T>A (p.Met628Lys) c.1841T>A (p.Met614Lys) c.914T>A (p.Met305Lys) | |
20 | g.63407366T>A | CA409639591 | KCNQ2 | c.1951A>T (p.Met651Leu) c.1897A>T (p.Met633Leu) c.1294A>T (p.Met432Leu) n.54A>T c.1804A>T (p.Met602Leu) c.1465A>T (p.Met489Leu) c.1813A>T (p.Met605Leu) c.1921A>T (p.Met641Leu) c.1885A>T (p.Met629Leu) c.1843A>T (p.Met615Leu) c.1679+6084A>T (n.1679+6084A>T) c.1939A>T (p.Met647Leu) c.2005A>T (p.Met669Leu) c.2002A>T (p.Met668Leu) c.1975A>T (p.Met659Leu) c.1894A>T (p.Met632Leu) c.1879A>T (p.Met627Leu) c.1486A>T (p.Met496Leu) c.1948A>T (p.Met650Leu) c.1882A>T (p.Met628Leu) c.1840A>T (p.Met614Leu) c.913A>T (p.Met305Leu) | |
20 | g.63407366T>C | CA317422652 | KCNQ2 | c.1951A>G (p.Met651Val) c.1897A>G (p.Met633Val) c.1294A>G (p.Met432Val) n.54A>G c.1804A>G (p.Met602Val) c.1465A>G (p.Met489Val) c.1813A>G (p.Met605Val) c.1921A>G (p.Met641Val) c.1885A>G (p.Met629Val) c.1843A>G (p.Met615Val) c.1679+6084A>G (n.1679+6084A>G) c.1939A>G (p.Met647Val) c.2005A>G (p.Met669Val) c.2002A>G (p.Met668Val) c.1975A>G (p.Met659Val) c.1894A>G (p.Met632Val) c.1879A>G (p.Met627Val) c.1486A>G (p.Met496Val) c.1948A>G (p.Met650Val) c.1882A>G (p.Met628Val) c.1840A>G (p.Met614Val) c.913A>G (p.Met305Val) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63407366T>G | CA409639594 | KCNQ2 | c.1951A>C (p.Met651Leu) c.1897A>C (p.Met633Leu) c.1294A>C (p.Met432Leu) n.54A>C c.1804A>C (p.Met602Leu) c.1465A>C (p.Met489Leu) c.1813A>C (p.Met605Leu) c.1921A>C (p.Met641Leu) c.1885A>C (p.Met629Leu) c.1843A>C (p.Met615Leu) c.1679+6084A>C (n.1679+6084A>C) c.1939A>C (p.Met647Leu) c.2005A>C (p.Met669Leu) c.2002A>C (p.Met668Leu) c.1975A>C (p.Met659Leu) c.1894A>C (p.Met632Leu) c.1879A>C (p.Met627Leu) c.1486A>C (p.Met496Leu) c.1948A>C (p.Met650Leu) c.1882A>C (p.Met628Leu) c.1840A>C (p.Met614Leu) c.913A>C (p.Met305Leu) | |
20 | g.63407366T= | CA2374774572 | KCNQ2 | c.1951A= (p.Met651=) c.1897A= (p.Met633=) c.1294A= (p.Met432=) n.54A= c.1804A= (p.Met602=) c.1465A= (p.Met489=) c.1813A= (p.Met605=) c.1921A= (p.Met641=) c.1885A= (p.Met629=) c.1843A= (p.Met615=) c.1679+6084A= (n.1679+6084A=) c.1939A= (p.Met647=) c.2005A= (p.Met669=) c.2002A= (p.Met668=) c.1975A= (p.Met659=) c.1894A= (p.Met632=) c.1879A= (p.Met627=) c.1486A= (p.Met496=) c.1948A= (p.Met650=) c.1882A= (p.Met628=) c.1840A= (p.Met614=) c.913A= (p.Met305=) | |
20 | g.63407367G>A | CA511339690 | KCNQ2 | c.1950C>T (p.Ser650=) c.1896C>T (p.Ser632=) c.1293C>T (p.Ser431=) n.53C>T c.1803C>T (p.Ser601=) c.1464C>T (p.Ser488=) c.1812C>T (p.Ser604=) c.1920C>T (p.Ser640=) c.1884C>T (p.Ser628=) c.1842C>T (p.Ser614=) c.1679+6083C>T (n.1679+6083C>T) c.1938C>T (p.Ser646=) c.2004C>T (p.Ser668=) c.2001C>T (p.Ser667=) c.1974C>T (p.Ser658=) c.1893C>T (p.Ser631=) c.1878C>T (p.Ser626=) c.1485C>T (p.Ser495=) c.1947C>T (p.Ser649=) c.1881C>T (p.Ser627=) c.1839C>T (p.Ser613=) c.912C>T (p.Ser304=) | dbSNP |
20 | g.63407367G>C | CA511339692 | KCNQ2 | c.1950C>G (p.Ser650=) c.1896C>G (p.Ser632=) c.1293C>G (p.Ser431=) n.53C>G c.1803C>G (p.Ser601=) c.1464C>G (p.Ser488=) c.1812C>G (p.Ser604=) c.1920C>G (p.Ser640=) c.1884C>G (p.Ser628=) c.1842C>G (p.Ser614=) c.1679+6083C>G (n.1679+6083C>G) c.1938C>G (p.Ser646=) c.2004C>G (p.Ser668=) c.2001C>G (p.Ser667=) c.1974C>G (p.Ser658=) c.1893C>G (p.Ser631=) c.1878C>G (p.Ser626=) c.1485C>G (p.Ser495=) c.1947C>G (p.Ser649=) c.1881C>G (p.Ser627=) c.1839C>G (p.Ser613=) c.912C>G (p.Ser304=) | |
20 | g.63407367G= | CA2374774573 | KCNQ2 | c.1950C= (p.Ser650=) c.1896C= (p.Ser632=) c.1293C= (p.Ser431=) n.53C= c.1803C= (p.Ser601=) c.1464C= (p.Ser488=) c.1812C= (p.Ser604=) c.1920C= (p.Ser640=) c.1884C= (p.Ser628=) c.1842C= (p.Ser614=) c.1679+6083C= (n.1679+6083C=) c.1938C= (p.Ser646=) c.2004C= (p.Ser668=) c.2001C= (p.Ser667=) c.1974C= (p.Ser658=) c.1893C= (p.Ser631=) c.1878C= (p.Ser626=) c.1485C= (p.Ser495=) c.1947C= (p.Ser649=) c.1881C= (p.Ser627=) c.1839C= (p.Ser613=) c.912C= (p.Ser304=) | |
20 | g.63407367G>T | CA511339694 | KCNQ2 | c.1950C>A (p.Ser650=) c.1896C>A (p.Ser632=) c.1293C>A (p.Ser431=) n.53C>A c.1803C>A (p.Ser601=) c.1464C>A (p.Ser488=) c.1812C>A (p.Ser604=) c.1920C>A (p.Ser640=) c.1884C>A (p.Ser628=) c.1842C>A (p.Ser614=) c.1679+6083C>A (n.1679+6083C>A) c.1938C>A (p.Ser646=) c.2004C>A (p.Ser668=) c.2001C>A (p.Ser667=) c.1974C>A (p.Ser658=) c.1893C>A (p.Ser631=) c.1878C>A (p.Ser626=) c.1485C>A (p.Ser495=) c.1947C>A (p.Ser649=) c.1881C>A (p.Ser627=) c.1839C>A (p.Ser613=) c.912C>A (p.Ser304=) | |
20 | g.63407368G>A | CA409639597 | KCNQ2 | c.1949C>T (p.Ser650Phe) c.1895C>T (p.Ser632Phe) c.1292C>T (p.Ser431Phe) n.52C>T c.1802C>T (p.Ser601Phe) c.1463C>T (p.Ser488Phe) c.1811C>T (p.Ser604Phe) c.1919C>T (p.Ser640Phe) c.1883C>T (p.Ser628Phe) c.1841C>T (p.Ser614Phe) c.1679+6082C>T (n.1679+6082C>T) c.1937C>T (p.Ser646Phe) c.2003C>T (p.Ser668Phe) c.2000C>T (p.Ser667Phe) c.1973C>T (p.Ser658Phe) c.1892C>T (p.Ser631Phe) c.1877C>T (p.Ser626Phe) c.1484C>T (p.Ser495Phe) c.1946C>T (p.Ser649Phe) c.1880C>T (p.Ser627Phe) c.1838C>T (p.Ser613Phe) c.911C>T (p.Ser304Phe) | |
20 | g.63407368G>C | CA409639598 | KCNQ2 | c.1949C>G (p.Ser650Cys) c.1895C>G (p.Ser632Cys) c.1292C>G (p.Ser431Cys) n.52C>G c.1802C>G (p.Ser601Cys) c.1463C>G (p.Ser488Cys) c.1811C>G (p.Ser604Cys) c.1919C>G (p.Ser640Cys) c.1883C>G (p.Ser628Cys) c.1841C>G (p.Ser614Cys) c.1679+6082C>G (n.1679+6082C>G) c.1937C>G (p.Ser646Cys) c.2003C>G (p.Ser668Cys) c.2000C>G (p.Ser667Cys) c.1973C>G (p.Ser658Cys) c.1892C>G (p.Ser631Cys) c.1877C>G (p.Ser626Cys) c.1484C>G (p.Ser495Cys) c.1946C>G (p.Ser649Cys) c.1880C>G (p.Ser627Cys) c.1838C>G (p.Ser613Cys) c.911C>G (p.Ser304Cys) | |
20 | g.63407368G>T | CA409639600 | KCNQ2 | c.1949C>A (p.Ser650Tyr) c.1895C>A (p.Ser632Tyr) c.1292C>A (p.Ser431Tyr) n.52C>A c.1802C>A (p.Ser601Tyr) c.1463C>A (p.Ser488Tyr) c.1811C>A (p.Ser604Tyr) c.1919C>A (p.Ser640Tyr) c.1883C>A (p.Ser628Tyr) c.1841C>A (p.Ser614Tyr) c.1679+6082C>A (n.1679+6082C>A) c.1937C>A (p.Ser646Tyr) c.2003C>A (p.Ser668Tyr) c.2000C>A (p.Ser667Tyr) c.1973C>A (p.Ser658Tyr) c.1892C>A (p.Ser631Tyr) c.1877C>A (p.Ser626Tyr) c.1484C>A (p.Ser495Tyr) c.1946C>A (p.Ser649Tyr) c.1880C>A (p.Ser627Tyr) c.1838C>A (p.Ser613Tyr) c.911C>A (p.Ser304Tyr) | |
20 | g.63407369A>C | CA409639607 | KCNQ2 | c.1948T>G (p.Ser650Ala) c.1894T>G (p.Ser632Ala) c.1291T>G (p.Ser431Ala) n.51T>G c.1801T>G (p.Ser601Ala) c.1462T>G (p.Ser488Ala) c.1810T>G (p.Ser604Ala) c.1918T>G (p.Ser640Ala) c.1882T>G (p.Ser628Ala) c.1840T>G (p.Ser614Ala) c.1679+6081T>G (n.1679+6081T>G) c.1936T>G (p.Ser646Ala) c.2002T>G (p.Ser668Ala) c.1999T>G (p.Ser667Ala) c.1972T>G (p.Ser658Ala) c.1891T>G (p.Ser631Ala) c.1876T>G (p.Ser626Ala) c.1483T>G (p.Ser495Ala) c.1945T>G (p.Ser649Ala) c.1879T>G (p.Ser627Ala) c.1837T>G (p.Ser613Ala) c.910T>G (p.Ser304Ala) | |
20 | g.63407369A>G | CA409639604 | KCNQ2 | c.1948T>C (p.Ser650Pro) c.1894T>C (p.Ser632Pro) c.1291T>C (p.Ser431Pro) n.51T>C c.1801T>C (p.Ser601Pro) c.1462T>C (p.Ser488Pro) c.1810T>C (p.Ser604Pro) c.1918T>C (p.Ser640Pro) c.1882T>C (p.Ser628Pro) c.1840T>C (p.Ser614Pro) c.1679+6081T>C (n.1679+6081T>C) c.1936T>C (p.Ser646Pro) c.2002T>C (p.Ser668Pro) c.1999T>C (p.Ser667Pro) c.1972T>C (p.Ser658Pro) c.1891T>C (p.Ser631Pro) c.1876T>C (p.Ser626Pro) c.1483T>C (p.Ser495Pro) c.1945T>C (p.Ser649Pro) c.1879T>C (p.Ser627Pro) c.1837T>C (p.Ser613Pro) c.910T>C (p.Ser304Pro) | |
20 | g.63407369A>T | CA409639603 | KCNQ2 | c.1948T>A (p.Ser650Thr) c.1894T>A (p.Ser632Thr) c.1291T>A (p.Ser431Thr) n.51T>A c.1801T>A (p.Ser601Thr) c.1462T>A (p.Ser488Thr) c.1810T>A (p.Ser604Thr) c.1918T>A (p.Ser640Thr) c.1882T>A (p.Ser628Thr) c.1840T>A (p.Ser614Thr) c.1679+6081T>A (n.1679+6081T>A) c.1936T>A (p.Ser646Thr) c.2002T>A (p.Ser668Thr) c.1999T>A (p.Ser667Thr) c.1972T>A (p.Ser658Thr) c.1891T>A (p.Ser631Thr) c.1876T>A (p.Ser626Thr) c.1483T>A (p.Ser495Thr) c.1945T>A (p.Ser649Thr) c.1879T>A (p.Ser627Thr) c.1837T>A (p.Ser613Thr) c.910T>A (p.Ser304Thr) | |
20 | g.63407370C>A | CA409639609 | KCNQ2 | c.1947G>T (p.Leu649Phe) c.1893G>T (p.Leu631Phe) c.1290G>T (p.Leu430Phe) n.50G>T c.1800G>T (p.Leu600Phe) c.1461G>T (p.Leu487Phe) c.1809G>T (p.Leu603Phe) c.1917G>T (p.Leu639Phe) c.1881G>T (p.Leu627Phe) c.1839G>T (p.Leu613Phe) c.1679+6080G>T (n.1679+6080G>T) c.1935G>T (p.Leu645Phe) c.2001G>T (p.Leu667Phe) c.1998G>T (p.Leu666Phe) c.1971G>T (p.Leu657Phe) c.1890G>T (p.Leu630Phe) c.1875G>T (p.Leu625Phe) c.1482G>T (p.Leu494Phe) c.1944G>T (p.Leu648Phe) c.1878G>T (p.Leu626Phe) c.1836G>T (p.Leu612Phe) c.909G>T (p.Leu303Phe) | |
20 | g.63407370C>G | CA409639611 | KCNQ2 | c.1947G>C (p.Leu649Phe) c.1893G>C (p.Leu631Phe) c.1290G>C (p.Leu430Phe) n.50G>C c.1800G>C (p.Leu600Phe) c.1461G>C (p.Leu487Phe) c.1809G>C (p.Leu603Phe) c.1917G>C (p.Leu639Phe) c.1881G>C (p.Leu627Phe) c.1839G>C (p.Leu613Phe) c.1679+6080G>C (n.1679+6080G>C) c.1935G>C (p.Leu645Phe) c.2001G>C (p.Leu667Phe) c.1998G>C (p.Leu666Phe) c.1971G>C (p.Leu657Phe) c.1890G>C (p.Leu630Phe) c.1875G>C (p.Leu625Phe) c.1482G>C (p.Leu494Phe) c.1944G>C (p.Leu648Phe) c.1878G>C (p.Leu626Phe) c.1836G>C (p.Leu612Phe) c.909G>C (p.Leu303Phe) | |
20 | g.63407370C>T | CA511339695 | KCNQ2 | c.1947G>A (p.Leu649=) c.1893G>A (p.Leu631=) c.1290G>A (p.Leu430=) n.50G>A c.1800G>A (p.Leu600=) c.1461G>A (p.Leu487=) c.1809G>A (p.Leu603=) c.1917G>A (p.Leu639=) c.1881G>A (p.Leu627=) c.1839G>A (p.Leu613=) c.1679+6080G>A (n.1679+6080G>A) c.1935G>A (p.Leu645=) c.2001G>A (p.Leu667=) c.1998G>A (p.Leu666=) c.1971G>A (p.Leu657=) c.1890G>A (p.Leu630=) c.1875G>A (p.Leu625=) c.1482G>A (p.Leu494=) c.1944G>A (p.Leu648=) c.1878G>A (p.Leu626=) c.1836G>A (p.Leu612=) c.909G>A (p.Leu303=) | |
20 | g.63407371A>C | CA409639613 | KCNQ2 | c.1946T>G (p.Leu649Trp) c.1892T>G (p.Leu631Trp) c.1289T>G (p.Leu430Trp) n.49T>G c.1799T>G (p.Leu600Trp) c.1460T>G (p.Leu487Trp) c.1808T>G (p.Leu603Trp) c.1916T>G (p.Leu639Trp) c.1880T>G (p.Leu627Trp) c.1838T>G (p.Leu613Trp) c.1679+6079T>G (n.1679+6079T>G) c.1934T>G (p.Leu645Trp) c.2000T>G (p.Leu667Trp) c.1997T>G (p.Leu666Trp) c.1970T>G (p.Leu657Trp) c.1889T>G (p.Leu630Trp) c.1874T>G (p.Leu625Trp) c.1481T>G (p.Leu494Trp) c.1943T>G (p.Leu648Trp) c.1877T>G (p.Leu626Trp) c.1835T>G (p.Leu612Trp) c.908T>G (p.Leu303Trp) | |
20 | g.63407371A>G | CA409639614 | KCNQ2 | c.1946T>C (p.Leu649Ser) c.1892T>C (p.Leu631Ser) c.1289T>C (p.Leu430Ser) n.49T>C c.1799T>C (p.Leu600Ser) c.1460T>C (p.Leu487Ser) c.1808T>C (p.Leu603Ser) c.1916T>C (p.Leu639Ser) c.1880T>C (p.Leu627Ser) c.1838T>C (p.Leu613Ser) c.1679+6079T>C (n.1679+6079T>C) c.1934T>C (p.Leu645Ser) c.2000T>C (p.Leu667Ser) c.1997T>C (p.Leu666Ser) c.1970T>C (p.Leu657Ser) c.1889T>C (p.Leu630Ser) c.1874T>C (p.Leu625Ser) c.1481T>C (p.Leu494Ser) c.1943T>C (p.Leu648Ser) c.1877T>C (p.Leu626Ser) c.1835T>C (p.Leu612Ser) c.908T>C (p.Leu303Ser) | gnomAD v4 |
20 | g.63407371A>T | CA409639616 | KCNQ2 | c.1946T>A (p.Leu649Ter) c.1892T>A (p.Leu631Ter) c.1289T>A (p.Leu430Ter) n.49T>A c.1799T>A (p.Leu600Ter) c.1460T>A (p.Leu487Ter) c.1808T>A (p.Leu603Ter) c.1916T>A (p.Leu639Ter) c.1880T>A (p.Leu627Ter) c.1838T>A (p.Leu613Ter) c.1679+6079T>A (n.1679+6079T>A) c.1934T>A (p.Leu645Ter) c.2000T>A (p.Leu667Ter) c.1997T>A (p.Leu666Ter) c.1970T>A (p.Leu657Ter) c.1889T>A (p.Leu630Ter) c.1874T>A (p.Leu625Ter) c.1481T>A (p.Leu494Ter) c.1943T>A (p.Leu648Ter) c.1877T>A (p.Leu626Ter) c.1835T>A (p.Leu612Ter) c.908T>A (p.Leu303Ter) | |
20 | g.63407372A>C | CA409639617 | KCNQ2 | c.1945T>G (p.Leu649Val) c.1891T>G (p.Leu631Val) c.1288T>G (p.Leu430Val) n.48T>G c.1798T>G (p.Leu600Val) c.1459T>G (p.Leu487Val) c.1807T>G (p.Leu603Val) c.1915T>G (p.Leu639Val) c.1879T>G (p.Leu627Val) c.1837T>G (p.Leu613Val) c.1679+6078T>G (n.1679+6078T>G) c.1933T>G (p.Leu645Val) c.1999T>G (p.Leu667Val) c.1996T>G (p.Leu666Val) c.1969T>G (p.Leu657Val) c.1888T>G (p.Leu630Val) c.1873T>G (p.Leu625Val) c.1480T>G (p.Leu494Val) c.1942T>G (p.Leu648Val) c.1876T>G (p.Leu626Val) c.1834T>G (p.Leu612Val) c.907T>G (p.Leu303Val) | |
20 | g.63407372A>G | CA511339698 | KCNQ2 | c.1945T>C (p.Leu649=) c.1891T>C (p.Leu631=) c.1288T>C (p.Leu430=) n.48T>C c.1798T>C (p.Leu600=) c.1459T>C (p.Leu487=) c.1807T>C (p.Leu603=) c.1915T>C (p.Leu639=) c.1879T>C (p.Leu627=) c.1837T>C (p.Leu613=) c.1679+6078T>C (n.1679+6078T>C) c.1933T>C (p.Leu645=) c.1999T>C (p.Leu667=) c.1996T>C (p.Leu666=) c.1969T>C (p.Leu657=) c.1888T>C (p.Leu630=) c.1873T>C (p.Leu625=) c.1480T>C (p.Leu494=) c.1942T>C (p.Leu648=) c.1876T>C (p.Leu626=) c.1834T>C (p.Leu612=) c.907T>C (p.Leu303=) | |
20 | g.63407372A>T | CA409639619 | KCNQ2 | c.1945T>A (p.Leu649Met) c.1891T>A (p.Leu631Met) c.1288T>A (p.Leu430Met) n.48T>A c.1798T>A (p.Leu600Met) c.1459T>A (p.Leu487Met) c.1807T>A (p.Leu603Met) c.1915T>A (p.Leu639Met) c.1879T>A (p.Leu627Met) c.1837T>A (p.Leu613Met) c.1679+6078T>A (n.1679+6078T>A) c.1933T>A (p.Leu645Met) c.1999T>A (p.Leu667Met) c.1996T>A (p.Leu666Met) c.1969T>A (p.Leu657Met) c.1888T>A (p.Leu630Met) c.1873T>A (p.Leu625Met) c.1480T>A (p.Leu494Met) c.1942T>A (p.Leu648Met) c.1876T>A (p.Leu626Met) c.1834T>A (p.Leu612Met) c.907T>A (p.Leu303Met) | |
20 | g.63407373G>A | CA511339699 | KCNQ2 | c.1944C>T (p.Val648=) c.1890C>T (p.Val630=) c.1287C>T (p.Val429=) n.47C>T c.1797C>T (p.Val599=) c.1458C>T (p.Val486=) c.1806C>T (p.Val602=) c.1914C>T (p.Val638=) c.1878C>T (p.Val626=) c.1836C>T (p.Val612=) c.1679+6077C>T (n.1679+6077C>T) c.1932C>T (p.Val644=) c.1998C>T (p.Val666=) c.1995C>T (p.Val665=) c.1968C>T (p.Val656=) c.1887C>T (p.Val629=) c.1872C>T (p.Val624=) c.1479C>T (p.Val493=) c.1941C>T (p.Val647=) c.1875C>T (p.Val625=) c.1833C>T (p.Val611=) c.906C>T (p.Val302=) | |
20 | g.63407373G>C | CA511339700 | KCNQ2 | c.1944C>G (p.Val648=) c.1890C>G (p.Val630=) c.1287C>G (p.Val429=) n.47C>G c.1797C>G (p.Val599=) c.1458C>G (p.Val486=) c.1806C>G (p.Val602=) c.1914C>G (p.Val638=) c.1878C>G (p.Val626=) c.1836C>G (p.Val612=) c.1679+6077C>G (n.1679+6077C>G) c.1932C>G (p.Val644=) c.1998C>G (p.Val666=) c.1995C>G (p.Val665=) c.1968C>G (p.Val656=) c.1887C>G (p.Val629=) c.1872C>G (p.Val624=) c.1479C>G (p.Val493=) c.1941C>G (p.Val647=) c.1875C>G (p.Val625=) c.1833C>G (p.Val611=) c.906C>G (p.Val302=) | |
20 | g.63407373G>T | CA511339701 | KCNQ2 | c.1944C>A (p.Val648=) c.1890C>A (p.Val630=) c.1287C>A (p.Val429=) n.47C>A c.1797C>A (p.Val599=) c.1458C>A (p.Val486=) c.1806C>A (p.Val602=) c.1914C>A (p.Val638=) c.1878C>A (p.Val626=) c.1836C>A (p.Val612=) c.1679+6077C>A (n.1679+6077C>A) c.1932C>A (p.Val644=) c.1998C>A (p.Val666=) c.1995C>A (p.Val665=) c.1968C>A (p.Val656=) c.1887C>A (p.Val629=) c.1872C>A (p.Val624=) c.1479C>A (p.Val493=) c.1941C>A (p.Val647=) c.1875C>A (p.Val625=) c.1833C>A (p.Val611=) c.906C>A (p.Val302=) | |
20 | g.63407374A>C | CA409639620 | KCNQ2 | c.1943T>G (p.Val648Gly) c.1889T>G (p.Val630Gly) c.1286T>G (p.Val429Gly) n.46T>G c.1796T>G (p.Val599Gly) c.1457T>G (p.Val486Gly) c.1805T>G (p.Val602Gly) c.1913T>G (p.Val638Gly) c.1877T>G (p.Val626Gly) c.1835T>G (p.Val612Gly) c.1679+6076T>G (n.1679+6076T>G) c.1931T>G (p.Val644Gly) c.1997T>G (p.Val666Gly) c.1994T>G (p.Val665Gly) c.1967T>G (p.Val656Gly) c.1886T>G (p.Val629Gly) c.1871T>G (p.Val624Gly) c.1478T>G (p.Val493Gly) c.1940T>G (p.Val647Gly) c.1874T>G (p.Val625Gly) c.1832T>G (p.Val611Gly) c.905T>G (p.Val302Gly) | |
20 | g.63407374A>G | CA409639622 | KCNQ2 | c.1943T>C (p.Val648Ala) c.1889T>C (p.Val630Ala) c.1286T>C (p.Val429Ala) n.46T>C c.1796T>C (p.Val599Ala) c.1457T>C (p.Val486Ala) c.1805T>C (p.Val602Ala) c.1913T>C (p.Val638Ala) c.1877T>C (p.Val626Ala) c.1835T>C (p.Val612Ala) c.1679+6076T>C (n.1679+6076T>C) c.1931T>C (p.Val644Ala) c.1997T>C (p.Val666Ala) c.1994T>C (p.Val665Ala) c.1967T>C (p.Val656Ala) c.1886T>C (p.Val629Ala) c.1871T>C (p.Val624Ala) c.1478T>C (p.Val493Ala) c.1940T>C (p.Val647Ala) c.1874T>C (p.Val625Ala) c.1832T>C (p.Val611Ala) c.905T>C (p.Val302Ala) | |
20 | g.63407374A>T | CA409639624 | KCNQ2 | c.1943T>A (p.Val648Asp) c.1889T>A (p.Val630Asp) c.1286T>A (p.Val429Asp) n.46T>A c.1796T>A (p.Val599Asp) c.1457T>A (p.Val486Asp) c.1805T>A (p.Val602Asp) c.1913T>A (p.Val638Asp) c.1877T>A (p.Val626Asp) c.1835T>A (p.Val612Asp) c.1679+6076T>A (n.1679+6076T>A) c.1931T>A (p.Val644Asp) c.1997T>A (p.Val666Asp) c.1994T>A (p.Val665Asp) c.1967T>A (p.Val656Asp) c.1886T>A (p.Val629Asp) c.1871T>A (p.Val624Asp) c.1478T>A (p.Val493Asp) c.1940T>A (p.Val647Asp) c.1874T>A (p.Val625Asp) c.1832T>A (p.Val611Asp) c.905T>A (p.Val302Asp) | |
20 | g.63407374_63407375delinsAC | CA2374774574 | KCNQ2 | c.1942_1943delinsGT (p.Val648=) c.1888_1889delinsGT (p.Val630=) c.1285_1286delinsGT (p.Val429=) n.45_46delinsGT c.1795_1796delinsGT (p.Val599=) c.1456_1457delinsGT (p.Val486=) c.1804_1805delinsGT (p.Val602=) c.1912_1913delinsGT (p.Val638=) c.1876_1877delinsGT (p.Val626=) c.1834_1835delinsGT (p.Val612=) c.1679+6075_1679+6076delinsGT (n.1679+6075_1679+6076delinsGT) c.1930_1931delinsGT (p.Val644=) c.1996_1997delinsGT (p.Val666=) c.1993_1994delinsGT (p.Val665=) c.1966_1967delinsGT (p.Val656=) c.1885_1886delinsGT (p.Val629=) c.1870_1871delinsGT (p.Val624=) c.1477_1478delinsGT (p.Val493=) c.1939_1940delinsGT (p.Val647=) c.1873_1874delinsGT (p.Val625=) c.1831_1832delinsGT (p.Val611=) c.904_905delinsGT (p.Val302=) | |
20 | g.63407375C>A | CA409639627 | KCNQ2 | c.1942G>T (p.Val648Phe) c.1888G>T (p.Val630Phe) c.1285G>T (p.Val429Phe) n.45G>T c.1795G>T (p.Val599Phe) c.1456G>T (p.Val486Phe) c.1804G>T (p.Val602Phe) c.1912G>T (p.Val638Phe) c.1876G>T (p.Val626Phe) c.1834G>T (p.Val612Phe) c.1679+6075G>T (n.1679+6075G>T) c.1930G>T (p.Val644Phe) c.1996G>T (p.Val666Phe) c.1993G>T (p.Val665Phe) c.1966G>T (p.Val656Phe) c.1885G>T (p.Val629Phe) c.1870G>T (p.Val624Phe) c.1477G>T (p.Val493Phe) c.1939G>T (p.Val647Phe) c.1873G>T (p.Val625Phe) c.1831G>T (p.Val611Phe) c.904G>T (p.Val302Phe) | |
20 | g.63407375C= | CA2374774575 | KCNQ2 | c.1942G= (p.Val648=) c.1888G= (p.Val630=) c.1285G= (p.Val429=) n.45G= c.1795G= (p.Val599=) c.1456G= (p.Val486=) c.1804G= (p.Val602=) c.1912G= (p.Val638=) c.1876G= (p.Val626=) c.1834G= (p.Val612=) c.1679+6075G= (n.1679+6075G=) c.1930G= (p.Val644=) c.1996G= (p.Val666=) c.1993G= (p.Val665=) c.1966G= (p.Val656=) c.1885G= (p.Val629=) c.1870G= (p.Val624=) c.1477G= (p.Val493=) c.1939G= (p.Val647=) c.1873G= (p.Val625=) c.1831G= (p.Val611=) c.904G= (p.Val302=) | |
20 | g.63407375C>G | CA409639629 | KCNQ2 | c.1942G>C (p.Val648Leu) c.1888G>C (p.Val630Leu) c.1285G>C (p.Val429Leu) n.45G>C c.1795G>C (p.Val599Leu) c.1456G>C (p.Val486Leu) c.1804G>C (p.Val602Leu) c.1912G>C (p.Val638Leu) c.1876G>C (p.Val626Leu) c.1834G>C (p.Val612Leu) c.1679+6075G>C (n.1679+6075G>C) c.1930G>C (p.Val644Leu) c.1996G>C (p.Val666Leu) c.1993G>C (p.Val665Leu) c.1966G>C (p.Val656Leu) c.1885G>C (p.Val629Leu) c.1870G>C (p.Val624Leu) c.1477G>C (p.Val493Leu) c.1939G>C (p.Val647Leu) c.1873G>C (p.Val625Leu) c.1831G>C (p.Val611Leu) c.904G>C (p.Val302Leu) | |
20 | g.63407375C>T | CA409639631 | KCNQ2 | c.1942G>A (p.Val648Ile) c.1888G>A (p.Val630Ile) c.1285G>A (p.Val429Ile) n.45G>A c.1795G>A (p.Val599Ile) c.1456G>A (p.Val486Ile) c.1804G>A (p.Val602Ile) c.1912G>A (p.Val638Ile) c.1876G>A (p.Val626Ile) c.1834G>A (p.Val612Ile) c.1679+6075G>A (n.1679+6075G>A) c.1930G>A (p.Val644Ile) c.1996G>A (p.Val666Ile) c.1993G>A (p.Val665Ile) c.1966G>A (p.Val656Ile) c.1885G>A (p.Val629Ile) c.1870G>A (p.Val624Ile) c.1477G>A (p.Val493Ile) c.1939G>A (p.Val647Ile) c.1873G>A (p.Val625Ile) c.1831G>A (p.Val611Ile) c.904G>A (p.Val302Ile) | dbSNP |
20 | g.63407376del | CA315560 | KCNQ2 | c.1942del c.1888del c.1285del n.45del c.1795del c.1456del c.1804del c.1912del c.1876del c.1834del c.1679+6075del (n.1679+6075del) c.1930del c.1996del c.1993del c.1966del c.1885del c.1870del c.1477del c.1939del c.1873del c.1831del c.904del | ClinVar dbSNP |
20 | g.63407376C>A | CA409639638 | KCNQ2 | c.1942-1G>T (n.1942-1G>T) c.1888-1G>T (n.1888-1G>T) c.1285-1G>T (n.1285-1G>T) n.45-1G>T c.1795-1G>T (n.1795-1G>T) c.1456-1G>T (n.1456-1G>T) c.1804-1G>T (n.1804-1G>T) c.1912-1G>T (n.1912-1G>T) c.1876-1G>T (n.1876-1G>T) c.1834-1G>T (n.1834-1G>T) c.1679+6074G>T (n.1679+6074G>T) c.1930-1G>T (n.1930-1G>T) c.1996-1G>T (n.1996-1G>T) c.1993-1G>T (n.1993-1G>T) c.1966-1G>T (n.1966-1G>T) c.1885-1G>T (n.1885-1G>T) c.1870-1G>T (n.1870-1G>T) c.1477-1G>T (n.1477-1G>T) c.1939-1G>T (n.1939-1G>T) c.1873-1G>T (n.1873-1G>T) c.1831-1G>T (n.1831-1G>T) c.904-1G>T (n.904-1G>T) | |
20 | g.63407376C= | CA2374774576 | KCNQ2 | c.1942-1G= (n.1942-1G=) c.1888-1G= (n.1888-1G=) c.1285-1G= (n.1285-1G=) n.45-1G= c.1795-1G= (n.1795-1G=) c.1456-1G= (n.1456-1G=) c.1804-1G= (n.1804-1G=) c.1912-1G= (n.1912-1G=) c.1876-1G= (n.1876-1G=) c.1834-1G= (n.1834-1G=) c.1679+6074G= (n.1679+6074G=) c.1930-1G= (n.1930-1G=) c.1996-1G= (n.1996-1G=) c.1993-1G= (n.1993-1G=) c.1966-1G= (n.1966-1G=) c.1885-1G= (n.1885-1G=) c.1870-1G= (n.1870-1G=) c.1477-1G= (n.1477-1G=) c.1939-1G= (n.1939-1G=) c.1873-1G= (n.1873-1G=) c.1831-1G= (n.1831-1G=) c.904-1G= (n.904-1G=) | |
20 | g.63407376C>G | CA409639639 | KCNQ2 | c.1942-1G>C (n.1942-1G>C) c.1888-1G>C (n.1888-1G>C) c.1285-1G>C (n.1285-1G>C) n.45-1G>C c.1795-1G>C (n.1795-1G>C) c.1456-1G>C (n.1456-1G>C) c.1804-1G>C (n.1804-1G>C) c.1912-1G>C (n.1912-1G>C) c.1876-1G>C (n.1876-1G>C) c.1834-1G>C (n.1834-1G>C) c.1679+6074G>C (n.1679+6074G>C) c.1930-1G>C (n.1930-1G>C) c.1996-1G>C (n.1996-1G>C) c.1993-1G>C (n.1993-1G>C) c.1966-1G>C (n.1966-1G>C) c.1885-1G>C (n.1885-1G>C) c.1870-1G>C (n.1870-1G>C) c.1477-1G>C (n.1477-1G>C) c.1939-1G>C (n.1939-1G>C) c.1873-1G>C (n.1873-1G>C) c.1831-1G>C (n.1831-1G>C) c.904-1G>C (n.904-1G>C) | |
20 | g.63407376C>T | CA409639636 | KCNQ2 | c.1942-1G>A (n.1942-1G>A) c.1888-1G>A (n.1888-1G>A) c.1285-1G>A (n.1285-1G>A) n.45-1G>A c.1795-1G>A (n.1795-1G>A) c.1456-1G>A (n.1456-1G>A) c.1804-1G>A (n.1804-1G>A) c.1912-1G>A (n.1912-1G>A) c.1876-1G>A (n.1876-1G>A) c.1834-1G>A (n.1834-1G>A) c.1679+6074G>A (n.1679+6074G>A) c.1930-1G>A (n.1930-1G>A) c.1996-1G>A (n.1996-1G>A) c.1993-1G>A (n.1993-1G>A) c.1966-1G>A (n.1966-1G>A) c.1885-1G>A (n.1885-1G>A) c.1870-1G>A (n.1870-1G>A) c.1477-1G>A (n.1477-1G>A) c.1939-1G>A (n.1939-1G>A) c.1873-1G>A (n.1873-1G>A) c.1831-1G>A (n.1831-1G>A) c.904-1G>A (n.904-1G>A) | ClinVar dbSNP |
20 | g.63407377T>A | CA409639643 | KCNQ2 | c.1942-2A>T (n.1942-2A>T) c.1888-2A>T (n.1888-2A>T) c.1285-2A>T (n.1285-2A>T) n.45-2A>T c.1795-2A>T (n.1795-2A>T) c.1456-2A>T (n.1456-2A>T) c.1804-2A>T (n.1804-2A>T) c.1912-2A>T (n.1912-2A>T) c.1876-2A>T (n.1876-2A>T) c.1834-2A>T (n.1834-2A>T) c.1679+6073A>T (n.1679+6073A>T) c.1930-2A>T (n.1930-2A>T) c.1996-2A>T (n.1996-2A>T) c.1993-2A>T (n.1993-2A>T) c.1966-2A>T (n.1966-2A>T) c.1885-2A>T (n.1885-2A>T) c.1870-2A>T (n.1870-2A>T) c.1477-2A>T (n.1477-2A>T) c.1939-2A>T (n.1939-2A>T) c.1873-2A>T (n.1873-2A>T) c.1831-2A>T (n.1831-2A>T) c.904-2A>T (n.904-2A>T) | |
20 | g.63407377T>C | CA409639644 | KCNQ2 | c.1942-2A>G (n.1942-2A>G) c.1888-2A>G (n.1888-2A>G) c.1285-2A>G (n.1285-2A>G) n.45-2A>G c.1795-2A>G (n.1795-2A>G) c.1456-2A>G (n.1456-2A>G) c.1804-2A>G (n.1804-2A>G) c.1912-2A>G (n.1912-2A>G) c.1876-2A>G (n.1876-2A>G) c.1834-2A>G (n.1834-2A>G) c.1679+6073A>G (n.1679+6073A>G) c.1930-2A>G (n.1930-2A>G) c.1996-2A>G (n.1996-2A>G) c.1993-2A>G (n.1993-2A>G) c.1966-2A>G (n.1966-2A>G) c.1885-2A>G (n.1885-2A>G) c.1870-2A>G (n.1870-2A>G) c.1477-2A>G (n.1477-2A>G) c.1939-2A>G (n.1939-2A>G) c.1873-2A>G (n.1873-2A>G) c.1831-2A>G (n.1831-2A>G) c.904-2A>G (n.904-2A>G) | |
20 | g.63407377T>G | CA409639646 | KCNQ2 | c.1942-2A>C (n.1942-2A>C) c.1888-2A>C (n.1888-2A>C) c.1285-2A>C (n.1285-2A>C) n.45-2A>C c.1795-2A>C (n.1795-2A>C) c.1456-2A>C (n.1456-2A>C) c.1804-2A>C (n.1804-2A>C) c.1912-2A>C (n.1912-2A>C) c.1876-2A>C (n.1876-2A>C) c.1834-2A>C (n.1834-2A>C) c.1679+6073A>C (n.1679+6073A>C) c.1930-2A>C (n.1930-2A>C) c.1996-2A>C (n.1996-2A>C) c.1993-2A>C (n.1993-2A>C) c.1966-2A>C (n.1966-2A>C) c.1885-2A>C (n.1885-2A>C) c.1870-2A>C (n.1870-2A>C) c.1477-2A>C (n.1477-2A>C) c.1939-2A>C (n.1939-2A>C) c.1873-2A>C (n.1873-2A>C) c.1831-2A>C (n.1831-2A>C) c.904-2A>C (n.904-2A>C) | |
20 | g.63407378G>A | CA9958203 | KCNQ2 | c.1942-3C>T (n.1942-3C>T) c.1888-3C>T (n.1888-3C>T) c.1285-3C>T (n.1285-3C>T) n.45-3C>T c.1795-3C>T (n.1795-3C>T) c.1456-3C>T (n.1456-3C>T) c.1804-3C>T (n.1804-3C>T) c.1912-3C>T (n.1912-3C>T) c.1876-3C>T (n.1876-3C>T) c.1834-3C>T (n.1834-3C>T) c.1679+6072C>T (n.1679+6072C>T) c.1930-3C>T (n.1930-3C>T) c.1996-3C>T (n.1996-3C>T) c.1993-3C>T (n.1993-3C>T) c.1966-3C>T (n.1966-3C>T) c.1885-3C>T (n.1885-3C>T) c.1870-3C>T (n.1870-3C>T) c.1477-3C>T (n.1477-3C>T) c.1939-3C>T (n.1939-3C>T) c.1873-3C>T (n.1873-3C>T) c.1831-3C>T (n.1831-3C>T) c.904-3C>T (n.904-3C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407378G= | CA2374774577 | KCNQ2 | c.1942-3C= (n.1942-3C=) c.1888-3C= (n.1888-3C=) c.1285-3C= (n.1285-3C=) n.45-3C= c.1795-3C= (n.1795-3C=) c.1456-3C= (n.1456-3C=) c.1804-3C= (n.1804-3C=) c.1912-3C= (n.1912-3C=) c.1876-3C= (n.1876-3C=) c.1834-3C= (n.1834-3C=) c.1679+6072C= (n.1679+6072C=) c.1930-3C= (n.1930-3C=) c.1996-3C= (n.1996-3C=) c.1993-3C= (n.1993-3C=) c.1966-3C= (n.1966-3C=) c.1885-3C= (n.1885-3C=) c.1870-3C= (n.1870-3C=) c.1477-3C= (n.1477-3C=) c.1939-3C= (n.1939-3C=) c.1873-3C= (n.1873-3C=) c.1831-3C= (n.1831-3C=) c.904-3C= (n.904-3C=) | |
20 | g.63407379C>A | CA2653806313 | KCNQ2 | c.1942-4G>T (n.1942-4G>T) c.1888-4G>T (n.1888-4G>T) c.1285-4G>T (n.1285-4G>T) n.45-4G>T c.1795-4G>T (n.1795-4G>T) c.1456-4G>T (n.1456-4G>T) c.1804-4G>T (n.1804-4G>T) c.1912-4G>T (n.1912-4G>T) c.1876-4G>T (n.1876-4G>T) c.1834-4G>T (n.1834-4G>T) c.1679+6071G>T (n.1679+6071G>T) c.1930-4G>T (n.1930-4G>T) c.1996-4G>T (n.1996-4G>T) c.1993-4G>T (n.1993-4G>T) c.1966-4G>T (n.1966-4G>T) c.1885-4G>T (n.1885-4G>T) c.1870-4G>T (n.1870-4G>T) c.1477-4G>T (n.1477-4G>T) c.1939-4G>T (n.1939-4G>T) c.1873-4G>T (n.1873-4G>T) c.1831-4G>T (n.1831-4G>T) c.904-4G>T (n.904-4G>T) | gnomAD v4 |
20 | g.63407379C= | CA2374774578 | KCNQ2 | c.1942-4G= (n.1942-4G=) c.1888-4G= (n.1888-4G=) c.1285-4G= (n.1285-4G=) n.45-4G= c.1795-4G= (n.1795-4G=) c.1456-4G= (n.1456-4G=) c.1804-4G= (n.1804-4G=) c.1912-4G= (n.1912-4G=) c.1876-4G= (n.1876-4G=) c.1834-4G= (n.1834-4G=) c.1679+6071G= (n.1679+6071G=) c.1930-4G= (n.1930-4G=) c.1996-4G= (n.1996-4G=) c.1993-4G= (n.1993-4G=) c.1966-4G= (n.1966-4G=) c.1885-4G= (n.1885-4G=) c.1870-4G= (n.1870-4G=) c.1477-4G= (n.1477-4G=) c.1939-4G= (n.1939-4G=) c.1873-4G= (n.1873-4G=) c.1831-4G= (n.1831-4G=) c.904-4G= (n.904-4G=) | |
20 | g.63407379C>T | CA2374774579 | KCNQ2 | c.1942-4G>A (n.1942-4G>A) c.1888-4G>A (n.1888-4G>A) c.1285-4G>A (n.1285-4G>A) n.45-4G>A c.1795-4G>A (n.1795-4G>A) c.1456-4G>A (n.1456-4G>A) c.1804-4G>A (n.1804-4G>A) c.1912-4G>A (n.1912-4G>A) c.1876-4G>A (n.1876-4G>A) c.1834-4G>A (n.1834-4G>A) c.1679+6071G>A (n.1679+6071G>A) c.1930-4G>A (n.1930-4G>A) c.1996-4G>A (n.1996-4G>A) c.1993-4G>A (n.1993-4G>A) c.1966-4G>A (n.1966-4G>A) c.1885-4G>A (n.1885-4G>A) c.1870-4G>A (n.1870-4G>A) c.1477-4G>A (n.1477-4G>A) c.1939-4G>A (n.1939-4G>A) c.1873-4G>A (n.1873-4G>A) c.1831-4G>A (n.1831-4G>A) c.904-4G>A (n.904-4G>A) | dbSNP gnomAD v4 |
20 | g.63407380A>G | CA2653806315 | KCNQ2 | c.1942-5T>C (n.1942-5T>C) c.1888-5T>C (n.1888-5T>C) c.1285-5T>C (n.1285-5T>C) n.45-5T>C c.1795-5T>C (n.1795-5T>C) c.1456-5T>C (n.1456-5T>C) c.1804-5T>C (n.1804-5T>C) c.1912-5T>C (n.1912-5T>C) c.1876-5T>C (n.1876-5T>C) c.1834-5T>C (n.1834-5T>C) c.1679+6070T>C (n.1679+6070T>C) c.1930-5T>C (n.1930-5T>C) c.1996-5T>C (n.1996-5T>C) c.1993-5T>C (n.1993-5T>C) c.1966-5T>C (n.1966-5T>C) c.1885-5T>C (n.1885-5T>C) c.1870-5T>C (n.1870-5T>C) c.1477-5T>C (n.1477-5T>C) c.1939-5T>C (n.1939-5T>C) c.1873-5T>C (n.1873-5T>C) c.1831-5T>C (n.1831-5T>C) c.904-5T>C (n.904-5T>C) | gnomAD v4 |
20 | g.63407383del | CA2816991739 | KCNQ2 | c.1942-5del (n.1942-5del) c.1888-5del (n.1888-5del) c.1285-5del (n.1285-5del) n.45-5del c.1795-5del (n.1795-5del) c.1456-5del (n.1456-5del) c.1804-5del (n.1804-5del) c.1912-5del (n.1912-5del) c.1876-5del (n.1876-5del) c.1834-5del (n.1834-5del) c.1679+6070del (n.1679+6070del) c.1930-5del (n.1930-5del) c.1996-5del (n.1996-5del) c.1993-5del (n.1993-5del) c.1966-5del (n.1966-5del) c.1885-5del (n.1885-5del) c.1870-5del (n.1870-5del) c.1477-5del (n.1477-5del) c.1939-5del (n.1939-5del) c.1873-5del (n.1873-5del) c.1831-5del (n.1831-5del) c.904-5del (n.904-5del) | |
20 | g.63407381A>G | CA2653806317 | KCNQ2 | c.1942-6T>C (n.1942-6T>C) c.1888-6T>C (n.1888-6T>C) c.1285-6T>C (n.1285-6T>C) n.45-6T>C c.1795-6T>C (n.1795-6T>C) c.1456-6T>C (n.1456-6T>C) c.1804-6T>C (n.1804-6T>C) c.1912-6T>C (n.1912-6T>C) c.1876-6T>C (n.1876-6T>C) c.1834-6T>C (n.1834-6T>C) c.1679+6069T>C (n.1679+6069T>C) c.1930-6T>C (n.1930-6T>C) c.1996-6T>C (n.1996-6T>C) c.1993-6T>C (n.1993-6T>C) c.1966-6T>C (n.1966-6T>C) c.1885-6T>C (n.1885-6T>C) c.1870-6T>C (n.1870-6T>C) c.1477-6T>C (n.1477-6T>C) c.1939-6T>C (n.1939-6T>C) c.1873-6T>C (n.1873-6T>C) c.1831-6T>C (n.1831-6T>C) c.904-6T>C (n.904-6T>C) | gnomAD v4 |