Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.63406889_63407267del | CA2739277253 | KCNQ2 | c.2053_2431del (p.Ala685TrpfsTer?) c.1999_2377del (p.Ala667TrpfsTer?) c.1396_1774del (p.Ala466TrpfsTer?) c.1906_2284del (p.Ala636TrpfsTer?) c.1567_1945del (p.Ala523TrpfsTer?) c.1915_2293del (p.Ala639TrpfsTer?) c.2023_2241+160del c.1987_2205+160del c.1945_2323del (p.Ala649TrpfsTer?) c.1915_2133+160del c.1679+6186_1680-6043del (n.1679+6186_1680-6043del) c.2041_2419del (p.Ala681TrpfsTer?) c.2107_2485del (p.Ala703TrpfsTer?) c.2104_2482del (p.Ala702TrpfsTer?) c.2077_2455del (p.Ala693TrpfsTer?) c.2023_2401del (p.Ala675TrpfsTer?) c.1996_2374del (p.Ala666TrpfsTer?) c.1981_2359del (p.Ala661TrpfsTer?) c.1588_1966del (p.Ala530TrpfsTer?) c.2050_2428del (p.Ala684TrpfsTer?) c.1987_2365del (p.Ala663TrpfsTer?) c.1984_2362del (p.Ala662TrpfsTer?) c.1942_2320del (p.Ala648TrpfsTer?) c.1015_1393del (p.Ala339TrpfsTer?) | ClinVar |
20 | g.63407007_63407031del | CA2653805334 | KCNQ2 | c.2286_2310del (p.Ala765ThrfsTer?) c.2232_2256del (p.Ala747ThrfsTer?) c.1629_1653del (p.Ala546ThrfsTer?) c.2139_2163del (p.Ala716ThrfsTer?) c.1800_1824del (p.Ala603ThrfsTer?) c.2148_2172del (p.Ala719ThrfsTer?) c.2241+15_2241+39del (n.2241+15_2241+39del) c.2205+15_2205+39del (n.2205+15_2205+39del) c.2178_2202del (p.Ala729ThrfsTer?) c.2133+15_2133+39del (n.2133+15_2133+39del) c.1680-6188_1680-6164del (n.1680-6188_1680-6164del) c.2274_2298del (p.Ala761ThrfsTer?) c.2340_2364del (p.Ala783ThrfsTer?) c.2337_2361del (p.Ala782ThrfsTer?) c.2310_2334del (p.Ala773ThrfsTer?) c.2256_2280del (p.Ala755ThrfsTer?) c.2229_2253del (p.Ala746ThrfsTer?) c.2214_2238del (p.Ala741ThrfsTer?) c.1821_1845del (p.Ala610ThrfsTer?) c.2283_2307del (p.Ala764ThrfsTer?) c.2220_2244del (p.Ala743ThrfsTer?) c.2217_2241del (p.Ala742ThrfsTer?) c.2175_2199del (p.Ala728ThrfsTer?) c.1248_1272del (p.Ala419ThrfsTer?) | gnomAD v4 |
20 | g.63407017T>A | CA409638251 | KCNQ2 | c.2300A>T (p.Glu767Val) c.2246A>T (p.Glu749Val) c.1643A>T (p.Glu548Val) c.2153A>T (p.Glu718Val) c.1814A>T (p.Glu605Val) c.2162A>T (p.Glu721Val) c.2241+29A>T (n.2241+29A>T) c.2205+29A>T (n.2205+29A>T) c.2192A>T (p.Glu731Val) c.2133+29A>T (n.2133+29A>T) c.1680-6174A>T (n.1680-6174A>T) c.2288A>T (p.Glu763Val) c.2354A>T (p.Glu785Val) c.2351A>T (p.Glu784Val) c.2324A>T (p.Glu775Val) c.2270A>T (p.Glu757Val) c.2243A>T (p.Glu748Val) c.2228A>T (p.Glu743Val) c.1835A>T (p.Glu612Val) c.2297A>T (p.Glu766Val) c.2234A>T (p.Glu745Val) c.2231A>T (p.Glu744Val) c.2189A>T (p.Glu730Val) c.1262A>T (p.Glu421Val) | |
20 | g.63407017T>C | CA409638245 | KCNQ2 | c.2300A>G (p.Glu767Gly) c.2246A>G (p.Glu749Gly) c.1643A>G (p.Glu548Gly) c.2153A>G (p.Glu718Gly) c.1814A>G (p.Glu605Gly) c.2162A>G (p.Glu721Gly) c.2241+29A>G (n.2241+29A>G) c.2205+29A>G (n.2205+29A>G) c.2192A>G (p.Glu731Gly) c.2133+29A>G (n.2133+29A>G) c.1680-6174A>G (n.1680-6174A>G) c.2288A>G (p.Glu763Gly) c.2354A>G (p.Glu785Gly) c.2351A>G (p.Glu784Gly) c.2324A>G (p.Glu775Gly) c.2270A>G (p.Glu757Gly) c.2243A>G (p.Glu748Gly) c.2228A>G (p.Glu743Gly) c.1835A>G (p.Glu612Gly) c.2297A>G (p.Glu766Gly) c.2234A>G (p.Glu745Gly) c.2231A>G (p.Glu744Gly) c.2189A>G (p.Glu730Gly) c.1262A>G (p.Glu421Gly) | |
20 | g.63407017T>G | CA409638248 | KCNQ2 | c.2300A>C (p.Glu767Ala) c.2246A>C (p.Glu749Ala) c.1643A>C (p.Glu548Ala) c.2153A>C (p.Glu718Ala) c.1814A>C (p.Glu605Ala) c.2162A>C (p.Glu721Ala) c.2241+29A>C (n.2241+29A>C) c.2205+29A>C (n.2205+29A>C) c.2192A>C (p.Glu731Ala) c.2133+29A>C (n.2133+29A>C) c.1680-6174A>C (n.1680-6174A>C) c.2288A>C (p.Glu763Ala) c.2354A>C (p.Glu785Ala) c.2351A>C (p.Glu784Ala) c.2324A>C (p.Glu775Ala) c.2270A>C (p.Glu757Ala) c.2243A>C (p.Glu748Ala) c.2228A>C (p.Glu743Ala) c.1835A>C (p.Glu612Ala) c.2297A>C (p.Glu766Ala) c.2234A>C (p.Glu745Ala) c.2231A>C (p.Glu744Ala) c.2189A>C (p.Glu730Ala) c.1262A>C (p.Glu421Ala) | |
20 | g.63407018C>A | CA090958 | KCNQ2 | c.2299G>T (p.Glu767Ter) c.2245G>T (p.Glu749Ter) c.1642G>T (p.Glu548Ter) c.2152G>T (p.Glu718Ter) c.1813G>T (p.Glu605Ter) c.2161G>T (p.Glu721Ter) c.2241+28G>T (n.2241+28G>T) c.2205+28G>T (n.2205+28G>T) c.2191G>T (p.Glu731Ter) c.2133+28G>T (n.2133+28G>T) c.1680-6175G>T (n.1680-6175G>T) c.2287G>T (p.Glu763Ter) c.2353G>T (p.Glu785Ter) c.2350G>T (p.Glu784Ter) c.2323G>T (p.Glu775Ter) c.2269G>T (p.Glu757Ter) c.2242G>T (p.Glu748Ter) c.2227G>T (p.Glu743Ter) c.1834G>T (p.Glu612Ter) c.2296G>T (p.Glu766Ter) c.2233G>T (p.Glu745Ter) c.2230G>T (p.Glu744Ter) c.2188G>T (p.Glu730Ter) c.1261G>T (p.Glu421Ter) | ClinVar dbSNP gnomAD v4 |
20 | g.63407018C= | CA2374774369 | KCNQ2 | c.2299G= (p.Glu767=) c.2245G= (p.Glu749=) c.1642G= (p.Glu548=) c.2152G= (p.Glu718=) c.1813G= (p.Glu605=) c.2161G= (p.Glu721=) c.2241+28G= (n.2241+28G=) c.2205+28G= (n.2205+28G=) c.2191G= (p.Glu731=) c.2133+28G= (n.2133+28G=) c.1680-6175G= (n.1680-6175G=) c.2287G= (p.Glu763=) c.2353G= (p.Glu785=) c.2350G= (p.Glu784=) c.2323G= (p.Glu775=) c.2269G= (p.Glu757=) c.2242G= (p.Glu748=) c.2227G= (p.Glu743=) c.1834G= (p.Glu612=) c.2296G= (p.Glu766=) c.2233G= (p.Glu745=) c.2230G= (p.Glu744=) c.2188G= (p.Glu730=) c.1261G= (p.Glu421=) | |
20 | g.63407018C>G | CA409638257 | KCNQ2 | c.2299G>C (p.Glu767Gln) c.2245G>C (p.Glu749Gln) c.1642G>C (p.Glu548Gln) c.2152G>C (p.Glu718Gln) c.1813G>C (p.Glu605Gln) c.2161G>C (p.Glu721Gln) c.2241+28G>C (n.2241+28G>C) c.2205+28G>C (n.2205+28G>C) c.2191G>C (p.Glu731Gln) c.2133+28G>C (n.2133+28G>C) c.1680-6175G>C (n.1680-6175G>C) c.2287G>C (p.Glu763Gln) c.2353G>C (p.Glu785Gln) c.2350G>C (p.Glu784Gln) c.2323G>C (p.Glu775Gln) c.2269G>C (p.Glu757Gln) c.2242G>C (p.Glu748Gln) c.2227G>C (p.Glu743Gln) c.1834G>C (p.Glu612Gln) c.2296G>C (p.Glu766Gln) c.2233G>C (p.Glu745Gln) c.2230G>C (p.Glu744Gln) c.2188G>C (p.Glu730Gln) c.1261G>C (p.Glu421Gln) | dbSNP gnomAD v4 |
20 | g.63407018C>T | CA409638259 | KCNQ2 | c.2299G>A (p.Glu767Lys) c.2245G>A (p.Glu749Lys) c.1642G>A (p.Glu548Lys) c.2152G>A (p.Glu718Lys) c.1813G>A (p.Glu605Lys) c.2161G>A (p.Glu721Lys) c.2241+28G>A (n.2241+28G>A) c.2205+28G>A (n.2205+28G>A) c.2191G>A (p.Glu731Lys) c.2133+28G>A (n.2133+28G>A) c.1680-6175G>A (n.1680-6175G>A) c.2287G>A (p.Glu763Lys) c.2353G>A (p.Glu785Lys) c.2350G>A (p.Glu784Lys) c.2323G>A (p.Glu775Lys) c.2269G>A (p.Glu757Lys) c.2242G>A (p.Glu748Lys) c.2227G>A (p.Glu743Lys) c.1834G>A (p.Glu612Lys) c.2296G>A (p.Glu766Lys) c.2233G>A (p.Glu745Lys) c.2230G>A (p.Glu744Lys) c.2188G>A (p.Glu730Lys) c.1261G>A (p.Glu421Lys) | ClinVar dbSNP gnomAD v4 |
20 | g.63407019G>A | CA9958118 | KCNQ2 | c.2298C>T (p.His766=) c.2244C>T (p.His748=) c.1641C>T (p.His547=) c.2151C>T (p.His717=) c.1812C>T (p.His604=) c.2160C>T (p.His720=) c.2241+27C>T (n.2241+27C>T) c.2205+27C>T (n.2205+27C>T) c.2190C>T (p.His730=) c.2133+27C>T (n.2133+27C>T) c.1680-6176C>T (n.1680-6176C>T) c.2286C>T (p.His762=) c.2352C>T (p.His784=) c.2349C>T (p.His783=) c.2322C>T (p.His774=) c.2268C>T (p.His756=) c.2241C>T (p.His747=) c.2226C>T (p.His742=) c.1833C>T (p.His611=) c.2295C>T (p.His765=) c.2232C>T (p.His744=) c.2229C>T (p.His743=) c.2187C>T (p.His729=) c.1260C>T (p.His420=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407019G>C | CA409638264 | KCNQ2 | c.2298C>G (p.His766Gln) c.2244C>G (p.His748Gln) c.1641C>G (p.His547Gln) c.2151C>G (p.His717Gln) c.1812C>G (p.His604Gln) c.2160C>G (p.His720Gln) c.2241+27C>G (n.2241+27C>G) c.2205+27C>G (n.2205+27C>G) c.2190C>G (p.His730Gln) c.2133+27C>G (n.2133+27C>G) c.1680-6176C>G (n.1680-6176C>G) c.2286C>G (p.His762Gln) c.2352C>G (p.His784Gln) c.2349C>G (p.His783Gln) c.2322C>G (p.His774Gln) c.2268C>G (p.His756Gln) c.2241C>G (p.His747Gln) c.2226C>G (p.His742Gln) c.1833C>G (p.His611Gln) c.2295C>G (p.His765Gln) c.2232C>G (p.His744Gln) c.2229C>G (p.His743Gln) c.2187C>G (p.His729Gln) c.1260C>G (p.His420Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407019G= | CA2374774370 | KCNQ2 | c.2298C= (p.His766=) c.2244C= (p.His748=) c.1641C= (p.His547=) c.2151C= (p.His717=) c.1812C= (p.His604=) c.2160C= (p.His720=) c.2241+27C= (n.2241+27C=) c.2205+27C= (n.2205+27C=) c.2190C= (p.His730=) c.2133+27C= (n.2133+27C=) c.1680-6176C= (n.1680-6176C=) c.2286C= (p.His762=) c.2352C= (p.His784=) c.2349C= (p.His783=) c.2322C= (p.His774=) c.2268C= (p.His756=) c.2241C= (p.His747=) c.2226C= (p.His742=) c.1833C= (p.His611=) c.2295C= (p.His765=) c.2232C= (p.His744=) c.2229C= (p.His743=) c.2187C= (p.His729=) c.1260C= (p.His420=) | |
20 | g.63407019G>T | CA409638267 | KCNQ2 | c.2298C>A (p.His766Gln) c.2244C>A (p.His748Gln) c.1641C>A (p.His547Gln) c.2151C>A (p.His717Gln) c.1812C>A (p.His604Gln) c.2160C>A (p.His720Gln) c.2241+27C>A (n.2241+27C>A) c.2205+27C>A (n.2205+27C>A) c.2190C>A (p.His730Gln) c.2133+27C>A (n.2133+27C>A) c.1680-6176C>A (n.1680-6176C>A) c.2286C>A (p.His762Gln) c.2352C>A (p.His784Gln) c.2349C>A (p.His783Gln) c.2322C>A (p.His774Gln) c.2268C>A (p.His756Gln) c.2241C>A (p.His747Gln) c.2226C>A (p.His742Gln) c.1833C>A (p.His611Gln) c.2295C>A (p.His765Gln) c.2232C>A (p.His744Gln) c.2229C>A (p.His743Gln) c.2187C>A (p.His729Gln) c.1260C>A (p.His420Gln) | gnomAD v4 |
20 | g.63407020T>A | CA409638277 | KCNQ2 | c.2297A>T (p.His766Leu) c.2243A>T (p.His748Leu) c.1640A>T (p.His547Leu) c.2150A>T (p.His717Leu) c.1811A>T (p.His604Leu) c.2159A>T (p.His720Leu) c.2241+26A>T (n.2241+26A>T) c.2205+26A>T (n.2205+26A>T) c.2189A>T (p.His730Leu) c.2133+26A>T (n.2133+26A>T) c.1680-6177A>T (n.1680-6177A>T) c.2285A>T (p.His762Leu) c.2351A>T (p.His784Leu) c.2348A>T (p.His783Leu) c.2321A>T (p.His774Leu) c.2267A>T (p.His756Leu) c.2240A>T (p.His747Leu) c.2225A>T (p.His742Leu) c.1832A>T (p.His611Leu) c.2294A>T (p.His765Leu) c.2231A>T (p.His744Leu) c.2228A>T (p.His743Leu) c.2186A>T (p.His729Leu) c.1259A>T (p.His420Leu) | |
20 | g.63407020T>C | CA409638274 | KCNQ2 | c.2297A>G (p.His766Arg) c.2243A>G (p.His748Arg) c.1640A>G (p.His547Arg) c.2150A>G (p.His717Arg) c.1811A>G (p.His604Arg) c.2159A>G (p.His720Arg) c.2241+26A>G (n.2241+26A>G) c.2205+26A>G (n.2205+26A>G) c.2189A>G (p.His730Arg) c.2133+26A>G (n.2133+26A>G) c.1680-6177A>G (n.1680-6177A>G) c.2285A>G (p.His762Arg) c.2351A>G (p.His784Arg) c.2348A>G (p.His783Arg) c.2321A>G (p.His774Arg) c.2267A>G (p.His756Arg) c.2240A>G (p.His747Arg) c.2225A>G (p.His742Arg) c.1832A>G (p.His611Arg) c.2294A>G (p.His765Arg) c.2231A>G (p.His744Arg) c.2228A>G (p.His743Arg) c.2186A>G (p.His729Arg) c.1259A>G (p.His420Arg) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407020T>G | CA409638271 | KCNQ2 | c.2297A>C (p.His766Pro) c.2243A>C (p.His748Pro) c.1640A>C (p.His547Pro) c.2150A>C (p.His717Pro) c.1811A>C (p.His604Pro) c.2159A>C (p.His720Pro) c.2241+26A>C (n.2241+26A>C) c.2205+26A>C (n.2205+26A>C) c.2189A>C (p.His730Pro) c.2133+26A>C (n.2133+26A>C) c.1680-6177A>C (n.1680-6177A>C) c.2285A>C (p.His762Pro) c.2351A>C (p.His784Pro) c.2348A>C (p.His783Pro) c.2321A>C (p.His774Pro) c.2267A>C (p.His756Pro) c.2240A>C (p.His747Pro) c.2225A>C (p.His742Pro) c.1832A>C (p.His611Pro) c.2294A>C (p.His765Pro) c.2231A>C (p.His744Pro) c.2228A>C (p.His743Pro) c.2186A>C (p.His729Pro) c.1259A>C (p.His420Pro) | ClinVar dbSNP |
20 | g.63407020T= | CA2374774371 | KCNQ2 | c.2297A= (p.His766=) c.2243A= (p.His748=) c.1640A= (p.His547=) c.2150A= (p.His717=) c.1811A= (p.His604=) c.2159A= (p.His720=) c.2241+26A= (n.2241+26A=) c.2205+26A= (n.2205+26A=) c.2189A= (p.His730=) c.2133+26A= (n.2133+26A=) c.1680-6177A= (n.1680-6177A=) c.2285A= (p.His762=) c.2351A= (p.His784=) c.2348A= (p.His783=) c.2321A= (p.His774=) c.2267A= (p.His756=) c.2240A= (p.His747=) c.2225A= (p.His742=) c.1832A= (p.His611=) c.2294A= (p.His765=) c.2231A= (p.His744=) c.2228A= (p.His743=) c.2186A= (p.His729=) c.1259A= (p.His420=) | |
20 | g.63407021G>A | CA409638278 | KCNQ2 | c.2296C>T (p.His766Tyr) c.2242C>T (p.His748Tyr) c.1639C>T (p.His547Tyr) c.2149C>T (p.His717Tyr) c.1810C>T (p.His604Tyr) c.2158C>T (p.His720Tyr) c.2241+25C>T (n.2241+25C>T) c.2205+25C>T (n.2205+25C>T) c.2188C>T (p.His730Tyr) c.2133+25C>T (n.2133+25C>T) c.1680-6178C>T (n.1680-6178C>T) c.2284C>T (p.His762Tyr) c.2350C>T (p.His784Tyr) c.2347C>T (p.His783Tyr) c.2320C>T (p.His774Tyr) c.2266C>T (p.His756Tyr) c.2239C>T (p.His747Tyr) c.2224C>T (p.His742Tyr) c.1831C>T (p.His611Tyr) c.2293C>T (p.His765Tyr) c.2230C>T (p.His744Tyr) c.2227C>T (p.His743Tyr) c.2185C>T (p.His729Tyr) c.1258C>T (p.His420Tyr) | gnomAD v4 |
20 | g.63407021G>C | CA409638284 | KCNQ2 | c.2296C>G (p.His766Asp) c.2242C>G (p.His748Asp) c.1639C>G (p.His547Asp) c.2149C>G (p.His717Asp) c.1810C>G (p.His604Asp) c.2158C>G (p.His720Asp) c.2241+25C>G (n.2241+25C>G) c.2205+25C>G (n.2205+25C>G) c.2188C>G (p.His730Asp) c.2133+25C>G (n.2133+25C>G) c.1680-6178C>G (n.1680-6178C>G) c.2284C>G (p.His762Asp) c.2350C>G (p.His784Asp) c.2347C>G (p.His783Asp) c.2320C>G (p.His774Asp) c.2266C>G (p.His756Asp) c.2239C>G (p.His747Asp) c.2224C>G (p.His742Asp) c.1831C>G (p.His611Asp) c.2293C>G (p.His765Asp) c.2230C>G (p.His744Asp) c.2227C>G (p.His743Asp) c.2185C>G (p.His729Asp) c.1258C>G (p.His420Asp) | |
20 | g.63407021G>T | CA409638280 | KCNQ2 | c.2296C>A (p.His766Asn) c.2242C>A (p.His748Asn) c.1639C>A (p.His547Asn) c.2149C>A (p.His717Asn) c.1810C>A (p.His604Asn) c.2158C>A (p.His720Asn) c.2241+25C>A (n.2241+25C>A) c.2205+25C>A (n.2205+25C>A) c.2188C>A (p.His730Asn) c.2133+25C>A (n.2133+25C>A) c.1680-6178C>A (n.1680-6178C>A) c.2284C>A (p.His762Asn) c.2350C>A (p.His784Asn) c.2347C>A (p.His783Asn) c.2320C>A (p.His774Asn) c.2266C>A (p.His756Asn) c.2239C>A (p.His747Asn) c.2224C>A (p.His742Asn) c.1831C>A (p.His611Asn) c.2293C>A (p.His765Asn) c.2230C>A (p.His744Asn) c.2227C>A (p.His743Asn) c.2185C>A (p.His729Asn) c.1258C>A (p.His420Asn) | gnomAD v4 |
20 | g.63407023del | CA2580098412 | KCNQ2 | c.2296del (p.His766ThrfsTer?) c.2242del (p.His748ThrfsTer?) c.1639del (p.His547ThrfsTer?) c.2149del (p.His717ThrfsTer?) c.1810del (p.His604ThrfsTer?) c.2158del (p.His720ThrfsTer?) c.2241+25del (n.2241+25del) c.2205+25del (n.2205+25del) c.2188del (p.His730ThrfsTer?) c.2133+25del (n.2133+25del) c.1680-6178del (n.1680-6178del) c.2284del (p.His762ThrfsTer?) c.2350del (p.His784ThrfsTer?) c.2347del (p.His783ThrfsTer?) c.2320del (p.His774ThrfsTer?) c.2266del (p.His756ThrfsTer?) c.2239del (p.His747ThrfsTer?) c.2224del (p.His742ThrfsTer?) c.1831del (p.His611ThrfsTer?) c.2293del (p.His765ThrfsTer?) c.2230del (p.His744ThrfsTer?) c.2227del (p.His743ThrfsTer?) c.2185del (p.His729ThrfsTer?) c.1258del (p.His420ThrfsTer?) | ClinVar |
20 | g.63407022G>A | CA511339454 | KCNQ2 | c.2295C>T (p.Ala765=) c.2241C>T (p.Ala747=) c.1638C>T (p.Ala546=) c.2148C>T (p.Ala716=) c.1809C>T (p.Ala603=) c.2157C>T (p.Ala719=) c.2241+24C>T (n.2241+24C>T) c.2205+24C>T (n.2205+24C>T) c.2187C>T (p.Ala729=) c.2133+24C>T (n.2133+24C>T) c.1680-6179C>T (n.1680-6179C>T) c.2283C>T (p.Ala761=) c.2349C>T (p.Ala783=) c.2346C>T (p.Ala782=) c.2319C>T (p.Ala773=) c.2265C>T (p.Ala755=) c.2238C>T (p.Ala746=) c.2223C>T (p.Ala741=) c.1830C>T (p.Ala610=) c.2292C>T (p.Ala764=) c.2229C>T (p.Ala743=) c.2226C>T (p.Ala742=) c.2184C>T (p.Ala728=) c.1257C>T (p.Ala419=) | gnomAD v4 |
20 | g.63407022G>C | CA511339455 | KCNQ2 | c.2295C>G (p.Ala765=) c.2241C>G (p.Ala747=) c.1638C>G (p.Ala546=) c.2148C>G (p.Ala716=) c.1809C>G (p.Ala603=) c.2157C>G (p.Ala719=) c.2241+24C>G (n.2241+24C>G) c.2205+24C>G (n.2205+24C>G) c.2187C>G (p.Ala729=) c.2133+24C>G (n.2133+24C>G) c.1680-6179C>G (n.1680-6179C>G) c.2283C>G (p.Ala761=) c.2349C>G (p.Ala783=) c.2346C>G (p.Ala782=) c.2319C>G (p.Ala773=) c.2265C>G (p.Ala755=) c.2238C>G (p.Ala746=) c.2223C>G (p.Ala741=) c.1830C>G (p.Ala610=) c.2292C>G (p.Ala764=) c.2229C>G (p.Ala743=) c.2226C>G (p.Ala742=) c.2184C>G (p.Ala728=) c.1257C>G (p.Ala419=) | ClinVar |
20 | g.63407022G>T | CA511339456 | KCNQ2 | c.2295C>A (p.Ala765=) c.2241C>A (p.Ala747=) c.1638C>A (p.Ala546=) c.2148C>A (p.Ala716=) c.1809C>A (p.Ala603=) c.2157C>A (p.Ala719=) c.2241+24C>A (n.2241+24C>A) c.2205+24C>A (n.2205+24C>A) c.2187C>A (p.Ala729=) c.2133+24C>A (n.2133+24C>A) c.1680-6179C>A (n.1680-6179C>A) c.2283C>A (p.Ala761=) c.2349C>A (p.Ala783=) c.2346C>A (p.Ala782=) c.2319C>A (p.Ala773=) c.2265C>A (p.Ala755=) c.2238C>A (p.Ala746=) c.2223C>A (p.Ala741=) c.1830C>A (p.Ala610=) c.2292C>A (p.Ala764=) c.2229C>A (p.Ala743=) c.2226C>A (p.Ala742=) c.2184C>A (p.Ala728=) c.1257C>A (p.Ala419=) | gnomAD v4 |
20 | g.63407023G>A | CA409638288 | KCNQ2 | c.2294C>T (p.Ala765Val) c.2240C>T (p.Ala747Val) c.1637C>T (p.Ala546Val) c.2147C>T (p.Ala716Val) c.1808C>T (p.Ala603Val) c.2156C>T (p.Ala719Val) c.2241+23C>T (n.2241+23C>T) c.2205+23C>T (n.2205+23C>T) c.2186C>T (p.Ala729Val) c.2133+23C>T (n.2133+23C>T) c.1680-6180C>T (n.1680-6180C>T) c.2282C>T (p.Ala761Val) c.2348C>T (p.Ala783Val) c.2345C>T (p.Ala782Val) c.2318C>T (p.Ala773Val) c.2264C>T (p.Ala755Val) c.2237C>T (p.Ala746Val) c.2222C>T (p.Ala741Val) c.1829C>T (p.Ala610Val) c.2291C>T (p.Ala764Val) c.2228C>T (p.Ala743Val) c.2225C>T (p.Ala742Val) c.2183C>T (p.Ala728Val) c.1256C>T (p.Ala419Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407023G>C | CA409638293 | KCNQ2 | c.2294C>G (p.Ala765Gly) c.2240C>G (p.Ala747Gly) c.1637C>G (p.Ala546Gly) c.2147C>G (p.Ala716Gly) c.1808C>G (p.Ala603Gly) c.2156C>G (p.Ala719Gly) c.2241+23C>G (n.2241+23C>G) c.2205+23C>G (n.2205+23C>G) c.2186C>G (p.Ala729Gly) c.2133+23C>G (n.2133+23C>G) c.1680-6180C>G (n.1680-6180C>G) c.2282C>G (p.Ala761Gly) c.2348C>G (p.Ala783Gly) c.2345C>G (p.Ala782Gly) c.2318C>G (p.Ala773Gly) c.2264C>G (p.Ala755Gly) c.2237C>G (p.Ala746Gly) c.2222C>G (p.Ala741Gly) c.1829C>G (p.Ala610Gly) c.2291C>G (p.Ala764Gly) c.2228C>G (p.Ala743Gly) c.2225C>G (p.Ala742Gly) c.2183C>G (p.Ala728Gly) c.1256C>G (p.Ala419Gly) | |
20 | g.63407023G= | CA2374774372 | KCNQ2 | c.2294C= (p.Ala765=) c.2240C= (p.Ala747=) c.1637C= (p.Ala546=) c.2147C= (p.Ala716=) c.1808C= (p.Ala603=) c.2156C= (p.Ala719=) c.2241+23C= (n.2241+23C=) c.2205+23C= (n.2205+23C=) c.2186C= (p.Ala729=) c.2133+23C= (n.2133+23C=) c.1680-6180C= (n.1680-6180C=) c.2282C= (p.Ala761=) c.2348C= (p.Ala783=) c.2345C= (p.Ala782=) c.2318C= (p.Ala773=) c.2264C= (p.Ala755=) c.2237C= (p.Ala746=) c.2222C= (p.Ala741=) c.1829C= (p.Ala610=) c.2291C= (p.Ala764=) c.2228C= (p.Ala743=) c.2225C= (p.Ala742=) c.2183C= (p.Ala728=) c.1256C= (p.Ala419=) | |
20 | g.63407023G>T | CA409638290 | KCNQ2 | c.2294C>A (p.Ala765Asp) c.2240C>A (p.Ala747Asp) c.1637C>A (p.Ala546Asp) c.2147C>A (p.Ala716Asp) c.1808C>A (p.Ala603Asp) c.2156C>A (p.Ala719Asp) c.2241+23C>A (n.2241+23C>A) c.2205+23C>A (n.2205+23C>A) c.2186C>A (p.Ala729Asp) c.2133+23C>A (n.2133+23C>A) c.1680-6180C>A (n.1680-6180C>A) c.2282C>A (p.Ala761Asp) c.2348C>A (p.Ala783Asp) c.2345C>A (p.Ala782Asp) c.2318C>A (p.Ala773Asp) c.2264C>A (p.Ala755Asp) c.2237C>A (p.Ala746Asp) c.2222C>A (p.Ala741Asp) c.1829C>A (p.Ala610Asp) c.2291C>A (p.Ala764Asp) c.2228C>A (p.Ala743Asp) c.2225C>A (p.Ala742Asp) c.2183C>A (p.Ala728Asp) c.1256C>A (p.Ala419Asp) | |
20 | g.63407024C>A | CA409638296 | KCNQ2 | c.2293G>T (p.Ala765Ser) c.2239G>T (p.Ala747Ser) c.1636G>T (p.Ala546Ser) c.2146G>T (p.Ala716Ser) c.1807G>T (p.Ala603Ser) c.2155G>T (p.Ala719Ser) c.2241+22G>T (n.2241+22G>T) c.2205+22G>T (n.2205+22G>T) c.2185G>T (p.Ala729Ser) c.2133+22G>T (n.2133+22G>T) c.1680-6181G>T (n.1680-6181G>T) c.2281G>T (p.Ala761Ser) c.2347G>T (p.Ala783Ser) c.2344G>T (p.Ala782Ser) c.2317G>T (p.Ala773Ser) c.2263G>T (p.Ala755Ser) c.2236G>T (p.Ala746Ser) c.2221G>T (p.Ala741Ser) c.1828G>T (p.Ala610Ser) c.2290G>T (p.Ala764Ser) c.2227G>T (p.Ala743Ser) c.2224G>T (p.Ala742Ser) c.2182G>T (p.Ala728Ser) c.1255G>T (p.Ala419Ser) | gnomAD v4 |
20 | g.63407024C>G | CA409638298 | KCNQ2 | c.2293G>C (p.Ala765Pro) c.2239G>C (p.Ala747Pro) c.1636G>C (p.Ala546Pro) c.2146G>C (p.Ala716Pro) c.1807G>C (p.Ala603Pro) c.2155G>C (p.Ala719Pro) c.2241+22G>C (n.2241+22G>C) c.2205+22G>C (n.2205+22G>C) c.2185G>C (p.Ala729Pro) c.2133+22G>C (n.2133+22G>C) c.1680-6181G>C (n.1680-6181G>C) c.2281G>C (p.Ala761Pro) c.2347G>C (p.Ala783Pro) c.2344G>C (p.Ala782Pro) c.2317G>C (p.Ala773Pro) c.2263G>C (p.Ala755Pro) c.2236G>C (p.Ala746Pro) c.2221G>C (p.Ala741Pro) c.1828G>C (p.Ala610Pro) c.2290G>C (p.Ala764Pro) c.2227G>C (p.Ala743Pro) c.2224G>C (p.Ala742Pro) c.2182G>C (p.Ala728Pro) c.1255G>C (p.Ala419Pro) | |
20 | g.63407024C>T | CA409638301 | KCNQ2 | c.2293G>A (p.Ala765Thr) c.2239G>A (p.Ala747Thr) c.1636G>A (p.Ala546Thr) c.2146G>A (p.Ala716Thr) c.1807G>A (p.Ala603Thr) c.2155G>A (p.Ala719Thr) c.2241+22G>A (n.2241+22G>A) c.2205+22G>A (n.2205+22G>A) c.2185G>A (p.Ala729Thr) c.2133+22G>A (n.2133+22G>A) c.1680-6181G>A (n.1680-6181G>A) c.2281G>A (p.Ala761Thr) c.2347G>A (p.Ala783Thr) c.2344G>A (p.Ala782Thr) c.2317G>A (p.Ala773Thr) c.2263G>A (p.Ala755Thr) c.2236G>A (p.Ala746Thr) c.2221G>A (p.Ala741Thr) c.1828G>A (p.Ala610Thr) c.2290G>A (p.Ala764Thr) c.2227G>A (p.Ala743Thr) c.2224G>A (p.Ala742Thr) c.2182G>A (p.Ala728Thr) c.1255G>A (p.Ala419Thr) | gnomAD v4 |
20 | g.63407025A= | CA2374774373 | KCNQ2 | c.2292T= (p.Pro764=) c.2238T= (p.Pro746=) c.1635T= (p.Pro545=) c.2145T= (p.Pro715=) c.1806T= (p.Pro602=) c.2154T= (p.Pro718=) c.2241+21T= (n.2241+21T=) c.2205+21T= (n.2205+21T=) c.2184T= (p.Pro728=) c.2133+21T= (n.2133+21T=) c.1680-6182T= (n.1680-6182T=) c.2280T= (p.Pro760=) c.2346T= (p.Pro782=) c.2343T= (p.Pro781=) c.2316T= (p.Pro772=) c.2262T= (p.Pro754=) c.2235T= (p.Pro745=) c.2220T= (p.Pro740=) c.1827T= (p.Pro609=) c.2289T= (p.Pro763=) c.2226T= (p.Pro742=) c.2223T= (p.Pro741=) c.2181T= (p.Pro727=) c.1254T= (p.Pro418=) | |
20 | g.63407025A>C | CA511339457 | KCNQ2 | c.2292T>G (p.Pro764=) c.2238T>G (p.Pro746=) c.1635T>G (p.Pro545=) c.2145T>G (p.Pro715=) c.1806T>G (p.Pro602=) c.2154T>G (p.Pro718=) c.2241+21T>G (n.2241+21T>G) c.2205+21T>G (n.2205+21T>G) c.2184T>G (p.Pro728=) c.2133+21T>G (n.2133+21T>G) c.1680-6182T>G (n.1680-6182T>G) c.2280T>G (p.Pro760=) c.2346T>G (p.Pro782=) c.2343T>G (p.Pro781=) c.2316T>G (p.Pro772=) c.2262T>G (p.Pro754=) c.2235T>G (p.Pro745=) c.2220T>G (p.Pro740=) c.1827T>G (p.Pro609=) c.2289T>G (p.Pro763=) c.2226T>G (p.Pro742=) c.2223T>G (p.Pro741=) c.2181T>G (p.Pro727=) c.1254T>G (p.Pro418=) | |
20 | g.63407025A>G | CA511339458 | KCNQ2 | c.2292T>C (p.Pro764=) c.2238T>C (p.Pro746=) c.1635T>C (p.Pro545=) c.2145T>C (p.Pro715=) c.1806T>C (p.Pro602=) c.2154T>C (p.Pro718=) c.2241+21T>C (n.2241+21T>C) c.2205+21T>C (n.2205+21T>C) c.2184T>C (p.Pro728=) c.2133+21T>C (n.2133+21T>C) c.1680-6182T>C (n.1680-6182T>C) c.2280T>C (p.Pro760=) c.2346T>C (p.Pro782=) c.2343T>C (p.Pro781=) c.2316T>C (p.Pro772=) c.2262T>C (p.Pro754=) c.2235T>C (p.Pro745=) c.2220T>C (p.Pro740=) c.1827T>C (p.Pro609=) c.2289T>C (p.Pro763=) c.2226T>C (p.Pro742=) c.2223T>C (p.Pro741=) c.2181T>C (p.Pro727=) c.1254T>C (p.Pro418=) | gnomAD v4 |
20 | g.63407025A>T | CA153292 | KCNQ2 | c.2292T>A (p.Pro764=) c.2238T>A (p.Pro746=) c.1635T>A (p.Pro545=) c.2145T>A (p.Pro715=) c.1806T>A (p.Pro602=) c.2154T>A (p.Pro718=) c.2241+21T>A (n.2241+21T>A) c.2205+21T>A (n.2205+21T>A) c.2184T>A (p.Pro728=) c.2133+21T>A (n.2133+21T>A) c.1680-6182T>A (n.1680-6182T>A) c.2280T>A (p.Pro760=) c.2346T>A (p.Pro782=) c.2343T>A (p.Pro781=) c.2316T>A (p.Pro772=) c.2262T>A (p.Pro754=) c.2235T>A (p.Pro745=) c.2220T>A (p.Pro740=) c.1827T>A (p.Pro609=) c.2289T>A (p.Pro763=) c.2226T>A (p.Pro742=) c.2223T>A (p.Pro741=) c.2181T>A (p.Pro727=) c.1254T>A (p.Pro418=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407025_63407028delinsAGGC | CA2374774374 | KCNQ2 | c.2289_2292delinsGCCT (p.Pro763=) c.2235_2238delinsGCCT (p.Pro745=) c.1632_1635delinsGCCT (p.Pro544=) c.2142_2145delinsGCCT (p.Pro714=) c.1803_1806delinsGCCT (p.Pro601=) c.2151_2154delinsGCCT (p.Pro717=) c.2241+18_2241+21delinsGCCT (n.2241+18_2241+21delinsGCCT) c.2205+18_2205+21delinsGCCT (n.2205+18_2205+21delinsGCCT) c.2181_2184delinsGCCT (p.Pro727=) c.2133+18_2133+21delinsGCCT (n.2133+18_2133+21delinsGCCT) c.1680-6185_1680-6182delinsGCCT (n.1680-6185_1680-6182delinsGCCT) c.2277_2280delinsGCCT (p.Pro759=) c.2343_2346delinsGCCT (p.Pro781=) c.2340_2343delinsGCCT (p.Pro780=) c.2313_2316delinsGCCT (p.Pro771=) c.2259_2262delinsGCCT (p.Pro753=) c.2232_2235delinsGCCT (p.Pro744=) c.2217_2220delinsGCCT (p.Pro739=) c.1824_1827delinsGCCT (p.Pro608=) c.2286_2289delinsGCCT (p.Pro762=) c.2223_2226delinsGCCT (p.Pro741=) c.2220_2223delinsGCCT (p.Pro740=) c.2178_2181delinsGCCT (p.Pro726=) c.1251_1254delinsGCCT (p.Pro417=) | |
20 | g.63407026G>A | CA409638307 | KCNQ2 | c.2291C>T (p.Pro764Leu) c.2237C>T (p.Pro746Leu) c.1634C>T (p.Pro545Leu) c.2144C>T (p.Pro715Leu) c.1805C>T (p.Pro602Leu) c.2153C>T (p.Pro718Leu) c.2241+20C>T (n.2241+20C>T) c.2205+20C>T (n.2205+20C>T) c.2183C>T (p.Pro728Leu) c.2133+20C>T (n.2133+20C>T) c.1680-6183C>T (n.1680-6183C>T) c.2279C>T (p.Pro760Leu) c.2345C>T (p.Pro782Leu) c.2342C>T (p.Pro781Leu) c.2315C>T (p.Pro772Leu) c.2261C>T (p.Pro754Leu) c.2234C>T (p.Pro745Leu) c.2219C>T (p.Pro740Leu) c.1826C>T (p.Pro609Leu) c.2288C>T (p.Pro763Leu) c.2225C>T (p.Pro742Leu) c.2222C>T (p.Pro741Leu) c.2180C>T (p.Pro727Leu) c.1253C>T (p.Pro418Leu) | gnomAD v4 |
20 | g.63407026G>C | CA409638310 | KCNQ2 | c.2291C>G (p.Pro764Arg) c.2237C>G (p.Pro746Arg) c.1634C>G (p.Pro545Arg) c.2144C>G (p.Pro715Arg) c.1805C>G (p.Pro602Arg) c.2153C>G (p.Pro718Arg) c.2241+20C>G (n.2241+20C>G) c.2205+20C>G (n.2205+20C>G) c.2183C>G (p.Pro728Arg) c.2133+20C>G (n.2133+20C>G) c.1680-6183C>G (n.1680-6183C>G) c.2279C>G (p.Pro760Arg) c.2345C>G (p.Pro782Arg) c.2342C>G (p.Pro781Arg) c.2315C>G (p.Pro772Arg) c.2261C>G (p.Pro754Arg) c.2234C>G (p.Pro745Arg) c.2219C>G (p.Pro740Arg) c.1826C>G (p.Pro609Arg) c.2288C>G (p.Pro763Arg) c.2225C>G (p.Pro742Arg) c.2222C>G (p.Pro741Arg) c.2180C>G (p.Pro727Arg) c.1253C>G (p.Pro418Arg) | gnomAD v4 |
20 | g.63407026G>T | CA409638313 | KCNQ2 | c.2291C>A (p.Pro764His) c.2237C>A (p.Pro746His) c.1634C>A (p.Pro545His) c.2144C>A (p.Pro715His) c.1805C>A (p.Pro602His) c.2153C>A (p.Pro718His) c.2241+20C>A (n.2241+20C>A) c.2205+20C>A (n.2205+20C>A) c.2183C>A (p.Pro728His) c.2133+20C>A (n.2133+20C>A) c.1680-6183C>A (n.1680-6183C>A) c.2279C>A (p.Pro760His) c.2345C>A (p.Pro782His) c.2342C>A (p.Pro781His) c.2315C>A (p.Pro772His) c.2261C>A (p.Pro754His) c.2234C>A (p.Pro745His) c.2219C>A (p.Pro740His) c.1826C>A (p.Pro609His) c.2288C>A (p.Pro763His) c.2225C>A (p.Pro742His) c.2222C>A (p.Pro741His) c.2180C>A (p.Pro727His) c.1253C>A (p.Pro418His) | gnomAD v4 |
20 | g.63407034_63407036dup | CA2816991493 | KCNQ2 | c.2289_2291dup (p.Pro764_Ala765insPro) c.2235_2237dup (p.Pro746_Ala747insPro) c.1632_1634dup (p.Pro545_Ala546insPro) c.2142_2144dup (p.Pro715_Ala716insPro) c.1803_1805dup (p.Pro602_Ala603insPro) c.2151_2153dup (p.Pro718_Ala719insPro) c.2241+18_2241+20dup (n.2241+18_2241+20dup) c.2205+18_2205+20dup (n.2205+18_2205+20dup) c.2181_2183dup (p.Pro728_Ala729insPro) c.2133+18_2133+20dup (n.2133+18_2133+20dup) c.1680-6185_1680-6183dup (n.1680-6185_1680-6183dup) c.2277_2279dup (p.Pro760_Ala761insPro) c.2343_2345dup (p.Pro782_Ala783insPro) c.2340_2342dup (p.Pro781_Ala782insPro) c.2313_2315dup (p.Pro772_Ala773insPro) c.2259_2261dup (p.Pro754_Ala755insPro) c.2232_2234dup (p.Pro745_Ala746insPro) c.2217_2219dup (p.Pro740_Ala741insPro) c.1824_1826dup (p.Pro609_Ala610insPro) c.2286_2288dup (p.Pro763_Ala764insPro) c.2223_2225dup (p.Pro742_Ala743insPro) c.2220_2222dup (p.Pro741_Ala742insPro) c.2178_2180dup (p.Pro727_Ala728insPro) c.1251_1253dup (p.Pro418_Ala419insPro) | |
20 | g.63407034_63407036del | CA636614187 | KCNQ2 | c.2289_2291del (p.Pro764del) c.2235_2237del (p.Pro746del) c.1632_1634del (p.Pro545del) c.2142_2144del (p.Pro715del) c.1803_1805del (p.Pro602del) c.2151_2153del (p.Pro718del) c.2241+18_2241+20del (n.2241+18_2241+20del) c.2205+18_2205+20del (n.2205+18_2205+20del) c.2181_2183del (p.Pro728del) c.2133+18_2133+20del (n.2133+18_2133+20del) c.1680-6185_1680-6183del (n.1680-6185_1680-6183del) c.2277_2279del (p.Pro760del) c.2343_2345del (p.Pro782del) c.2340_2342del (p.Pro781del) c.2313_2315del (p.Pro772del) c.2259_2261del (p.Pro754del) c.2232_2234del (p.Pro745del) c.2217_2219del (p.Pro740del) c.1824_1826del (p.Pro609del) c.2286_2288del (p.Pro763del) c.2223_2225del (p.Pro742del) c.2220_2222del (p.Pro741del) c.2178_2180del (p.Pro727del) c.1251_1253del (p.Pro418del) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407027G>A | CA409638316 | KCNQ2 | c.2290C>T (p.Pro764Ser) c.2236C>T (p.Pro746Ser) c.1633C>T (p.Pro545Ser) c.2143C>T (p.Pro715Ser) c.1804C>T (p.Pro602Ser) c.2152C>T (p.Pro718Ser) c.2241+19C>T (n.2241+19C>T) c.2205+19C>T (n.2205+19C>T) c.2182C>T (p.Pro728Ser) c.2133+19C>T (n.2133+19C>T) c.1680-6184C>T (n.1680-6184C>T) c.2278C>T (p.Pro760Ser) c.2344C>T (p.Pro782Ser) c.2341C>T (p.Pro781Ser) c.2314C>T (p.Pro772Ser) c.2260C>T (p.Pro754Ser) c.2233C>T (p.Pro745Ser) c.2218C>T (p.Pro740Ser) c.1825C>T (p.Pro609Ser) c.2287C>T (p.Pro763Ser) c.2224C>T (p.Pro742Ser) c.2221C>T (p.Pro741Ser) c.2179C>T (p.Pro727Ser) c.1252C>T (p.Pro418Ser) | |
20 | g.63407027G>C | CA409638317 | KCNQ2 | c.2290C>G (p.Pro764Ala) c.2236C>G (p.Pro746Ala) c.1633C>G (p.Pro545Ala) c.2143C>G (p.Pro715Ala) c.1804C>G (p.Pro602Ala) c.2152C>G (p.Pro718Ala) c.2241+19C>G (n.2241+19C>G) c.2205+19C>G (n.2205+19C>G) c.2182C>G (p.Pro728Ala) c.2133+19C>G (n.2133+19C>G) c.1680-6184C>G (n.1680-6184C>G) c.2278C>G (p.Pro760Ala) c.2344C>G (p.Pro782Ala) c.2341C>G (p.Pro781Ala) c.2314C>G (p.Pro772Ala) c.2260C>G (p.Pro754Ala) c.2233C>G (p.Pro745Ala) c.2218C>G (p.Pro740Ala) c.1825C>G (p.Pro609Ala) c.2287C>G (p.Pro763Ala) c.2224C>G (p.Pro742Ala) c.2221C>G (p.Pro741Ala) c.2179C>G (p.Pro727Ala) c.1252C>G (p.Pro418Ala) | |
20 | g.63407027G>T | CA409638320 | KCNQ2 | c.2290C>A (p.Pro764Thr) c.2236C>A (p.Pro746Thr) c.1633C>A (p.Pro545Thr) c.2143C>A (p.Pro715Thr) c.1804C>A (p.Pro602Thr) c.2152C>A (p.Pro718Thr) c.2241+19C>A (n.2241+19C>A) c.2205+19C>A (n.2205+19C>A) c.2182C>A (p.Pro728Thr) c.2133+19C>A (n.2133+19C>A) c.1680-6184C>A (n.1680-6184C>A) c.2278C>A (p.Pro760Thr) c.2344C>A (p.Pro782Thr) c.2341C>A (p.Pro781Thr) c.2314C>A (p.Pro772Thr) c.2260C>A (p.Pro754Thr) c.2233C>A (p.Pro745Thr) c.2218C>A (p.Pro740Thr) c.1825C>A (p.Pro609Thr) c.2287C>A (p.Pro763Thr) c.2224C>A (p.Pro742Thr) c.2221C>A (p.Pro741Thr) c.2179C>A (p.Pro727Thr) c.1252C>A (p.Pro418Thr) | gnomAD v4 |
20 | g.63407028C>A | CA511339459 | KCNQ2 | c.2289G>T (p.Pro763=) c.2235G>T (p.Pro745=) c.1632G>T (p.Pro544=) c.2142G>T (p.Pro714=) c.1803G>T (p.Pro601=) c.2151G>T (p.Pro717=) c.2241+18G>T (n.2241+18G>T) c.2205+18G>T (n.2205+18G>T) c.2181G>T (p.Pro727=) c.2133+18G>T (n.2133+18G>T) c.1680-6185G>T (n.1680-6185G>T) c.2277G>T (p.Pro759=) c.2343G>T (p.Pro781=) c.2340G>T (p.Pro780=) c.2313G>T (p.Pro771=) c.2259G>T (p.Pro753=) c.2232G>T (p.Pro744=) c.2217G>T (p.Pro739=) c.1824G>T (p.Pro608=) c.2286G>T (p.Pro762=) c.2223G>T (p.Pro741=) c.2220G>T (p.Pro740=) c.2178G>T (p.Pro726=) c.1251G>T (p.Pro417=) | gnomAD v4 |
20 | g.63407028C= | CA2374774375 | KCNQ2 | c.2289G= (p.Pro763=) c.2235G= (p.Pro745=) c.1632G= (p.Pro544=) c.2142G= (p.Pro714=) c.1803G= (p.Pro601=) c.2151G= (p.Pro717=) c.2241+18G= (n.2241+18G=) c.2205+18G= (n.2205+18G=) c.2181G= (p.Pro727=) c.2133+18G= (n.2133+18G=) c.1680-6185G= (n.1680-6185G=) c.2277G= (p.Pro759=) c.2343G= (p.Pro781=) c.2340G= (p.Pro780=) c.2313G= (p.Pro771=) c.2259G= (p.Pro753=) c.2232G= (p.Pro744=) c.2217G= (p.Pro739=) c.1824G= (p.Pro608=) c.2286G= (p.Pro762=) c.2223G= (p.Pro741=) c.2220G= (p.Pro740=) c.2178G= (p.Pro726=) c.1251G= (p.Pro417=) | |
20 | g.63407028C>G | CA511339460 | KCNQ2 | c.2289G>C (p.Pro763=) c.2235G>C (p.Pro745=) c.1632G>C (p.Pro544=) c.2142G>C (p.Pro714=) c.1803G>C (p.Pro601=) c.2151G>C (p.Pro717=) c.2241+18G>C (n.2241+18G>C) c.2205+18G>C (n.2205+18G>C) c.2181G>C (p.Pro727=) c.2133+18G>C (n.2133+18G>C) c.1680-6185G>C (n.1680-6185G>C) c.2277G>C (p.Pro759=) c.2343G>C (p.Pro781=) c.2340G>C (p.Pro780=) c.2313G>C (p.Pro771=) c.2259G>C (p.Pro753=) c.2232G>C (p.Pro744=) c.2217G>C (p.Pro739=) c.1824G>C (p.Pro608=) c.2286G>C (p.Pro762=) c.2223G>C (p.Pro741=) c.2220G>C (p.Pro740=) c.2178G>C (p.Pro726=) c.1251G>C (p.Pro417=) | |
20 | g.63407028C>T | CA090960 | KCNQ2 | c.2289G>A (p.Pro763=) c.2235G>A (p.Pro745=) c.1632G>A (p.Pro544=) c.2142G>A (p.Pro714=) c.1803G>A (p.Pro601=) c.2151G>A (p.Pro717=) c.2241+18G>A (n.2241+18G>A) c.2205+18G>A (n.2205+18G>A) c.2181G>A (p.Pro727=) c.2133+18G>A (n.2133+18G>A) c.1680-6185G>A (n.1680-6185G>A) c.2277G>A (p.Pro759=) c.2343G>A (p.Pro781=) c.2340G>A (p.Pro780=) c.2313G>A (p.Pro771=) c.2259G>A (p.Pro753=) c.2232G>A (p.Pro744=) c.2217G>A (p.Pro739=) c.1824G>A (p.Pro608=) c.2286G>A (p.Pro762=) c.2223G>A (p.Pro741=) c.2220G>A (p.Pro740=) c.2178G>A (p.Pro726=) c.1251G>A (p.Pro417=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407029G>A | CA16043137 | KCNQ2 | c.2288C>T (p.Pro763Leu) c.2234C>T (p.Pro745Leu) c.1631C>T (p.Pro544Leu) c.2141C>T (p.Pro714Leu) c.1802C>T (p.Pro601Leu) c.2150C>T (p.Pro717Leu) c.2241+17C>T (n.2241+17C>T) c.2205+17C>T (n.2205+17C>T) c.2180C>T (p.Pro727Leu) c.2133+17C>T (n.2133+17C>T) c.1680-6186C>T (n.1680-6186C>T) c.2276C>T (p.Pro759Leu) c.2342C>T (p.Pro781Leu) c.2339C>T (p.Pro780Leu) c.2312C>T (p.Pro771Leu) c.2258C>T (p.Pro753Leu) c.2231C>T (p.Pro744Leu) c.2216C>T (p.Pro739Leu) c.1823C>T (p.Pro608Leu) c.2285C>T (p.Pro762Leu) c.2222C>T (p.Pro741Leu) c.2219C>T (p.Pro740Leu) c.2177C>T (p.Pro726Leu) c.1250C>T (p.Pro417Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407029G>C | CA409638330 | KCNQ2 | c.2288C>G (p.Pro763Arg) c.2234C>G (p.Pro745Arg) c.1631C>G (p.Pro544Arg) c.2141C>G (p.Pro714Arg) c.1802C>G (p.Pro601Arg) c.2150C>G (p.Pro717Arg) c.2241+17C>G (n.2241+17C>G) c.2205+17C>G (n.2205+17C>G) c.2180C>G (p.Pro727Arg) c.2133+17C>G (n.2133+17C>G) c.1680-6186C>G (n.1680-6186C>G) c.2276C>G (p.Pro759Arg) c.2342C>G (p.Pro781Arg) c.2339C>G (p.Pro780Arg) c.2312C>G (p.Pro771Arg) c.2258C>G (p.Pro753Arg) c.2231C>G (p.Pro744Arg) c.2216C>G (p.Pro739Arg) c.1823C>G (p.Pro608Arg) c.2285C>G (p.Pro762Arg) c.2222C>G (p.Pro741Arg) c.2219C>G (p.Pro740Arg) c.2177C>G (p.Pro726Arg) c.1250C>G (p.Pro417Arg) | |
20 | g.63407029G= | CA2374774376 | KCNQ2 | c.2288C= (p.Pro763=) c.2234C= (p.Pro745=) c.1631C= (p.Pro544=) c.2141C= (p.Pro714=) c.1802C= (p.Pro601=) c.2150C= (p.Pro717=) c.2241+17C= (n.2241+17C=) c.2205+17C= (n.2205+17C=) c.2180C= (p.Pro727=) c.2133+17C= (n.2133+17C=) c.1680-6186C= (n.1680-6186C=) c.2276C= (p.Pro759=) c.2342C= (p.Pro781=) c.2339C= (p.Pro780=) c.2312C= (p.Pro771=) c.2258C= (p.Pro753=) c.2231C= (p.Pro744=) c.2216C= (p.Pro739=) c.1823C= (p.Pro608=) c.2285C= (p.Pro762=) c.2222C= (p.Pro741=) c.2219C= (p.Pro740=) c.2177C= (p.Pro726=) c.1250C= (p.Pro417=) | |
20 | g.63407029G>T | CA409638327 | KCNQ2 | c.2288C>A (p.Pro763Gln) c.2234C>A (p.Pro745Gln) c.1631C>A (p.Pro544Gln) c.2141C>A (p.Pro714Gln) c.1802C>A (p.Pro601Gln) c.2150C>A (p.Pro717Gln) c.2241+17C>A (n.2241+17C>A) c.2205+17C>A (n.2205+17C>A) c.2180C>A (p.Pro727Gln) c.2133+17C>A (n.2133+17C>A) c.1680-6186C>A (n.1680-6186C>A) c.2276C>A (p.Pro759Gln) c.2342C>A (p.Pro781Gln) c.2339C>A (p.Pro780Gln) c.2312C>A (p.Pro771Gln) c.2258C>A (p.Pro753Gln) c.2231C>A (p.Pro744Gln) c.2216C>A (p.Pro739Gln) c.1823C>A (p.Pro608Gln) c.2285C>A (p.Pro762Gln) c.2222C>A (p.Pro741Gln) c.2219C>A (p.Pro740Gln) c.2177C>A (p.Pro726Gln) c.1250C>A (p.Pro417Gln) | gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407030G>A | CA409638335 | KCNQ2 | c.2287C>T (p.Pro763Ser) c.2233C>T (p.Pro745Ser) c.1630C>T (p.Pro544Ser) c.2140C>T (p.Pro714Ser) c.1801C>T (p.Pro601Ser) c.2149C>T (p.Pro717Ser) c.2241+16C>T (n.2241+16C>T) c.2205+16C>T (n.2205+16C>T) c.2179C>T (p.Pro727Ser) c.2133+16C>T (n.2133+16C>T) c.1680-6187C>T (n.1680-6187C>T) c.2275C>T (p.Pro759Ser) c.2341C>T (p.Pro781Ser) c.2338C>T (p.Pro780Ser) c.2311C>T (p.Pro771Ser) c.2257C>T (p.Pro753Ser) c.2230C>T (p.Pro744Ser) c.2215C>T (p.Pro739Ser) c.1822C>T (p.Pro608Ser) c.2284C>T (p.Pro762Ser) c.2221C>T (p.Pro741Ser) c.2218C>T (p.Pro740Ser) c.2176C>T (p.Pro726Ser) c.1249C>T (p.Pro417Ser) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407030G>C | CA409638338 | KCNQ2 | c.2287C>G (p.Pro763Ala) c.2233C>G (p.Pro745Ala) c.1630C>G (p.Pro544Ala) c.2140C>G (p.Pro714Ala) c.1801C>G (p.Pro601Ala) c.2149C>G (p.Pro717Ala) c.2241+16C>G (n.2241+16C>G) c.2205+16C>G (n.2205+16C>G) c.2179C>G (p.Pro727Ala) c.2133+16C>G (n.2133+16C>G) c.1680-6187C>G (n.1680-6187C>G) c.2275C>G (p.Pro759Ala) c.2341C>G (p.Pro781Ala) c.2338C>G (p.Pro780Ala) c.2311C>G (p.Pro771Ala) c.2257C>G (p.Pro753Ala) c.2230C>G (p.Pro744Ala) c.2215C>G (p.Pro739Ala) c.1822C>G (p.Pro608Ala) c.2284C>G (p.Pro762Ala) c.2221C>G (p.Pro741Ala) c.2218C>G (p.Pro740Ala) c.2176C>G (p.Pro726Ala) c.1249C>G (p.Pro417Ala) | |
20 | g.63407030G= | CA2374774377 | KCNQ2 | c.2287C= (p.Pro763=) c.2233C= (p.Pro745=) c.1630C= (p.Pro544=) c.2140C= (p.Pro714=) c.1801C= (p.Pro601=) c.2149C= (p.Pro717=) c.2241+16C= (n.2241+16C=) c.2205+16C= (n.2205+16C=) c.2179C= (p.Pro727=) c.2133+16C= (n.2133+16C=) c.1680-6187C= (n.1680-6187C=) c.2275C= (p.Pro759=) c.2341C= (p.Pro781=) c.2338C= (p.Pro780=) c.2311C= (p.Pro771=) c.2257C= (p.Pro753=) c.2230C= (p.Pro744=) c.2215C= (p.Pro739=) c.1822C= (p.Pro608=) c.2284C= (p.Pro762=) c.2221C= (p.Pro741=) c.2218C= (p.Pro740=) c.2176C= (p.Pro726=) c.1249C= (p.Pro417=) | |
20 | g.63407030G>T | CA409638340 | KCNQ2 | c.2287C>A (p.Pro763Thr) c.2233C>A (p.Pro745Thr) c.1630C>A (p.Pro544Thr) c.2140C>A (p.Pro714Thr) c.1801C>A (p.Pro601Thr) c.2149C>A (p.Pro717Thr) c.2241+16C>A (n.2241+16C>A) c.2205+16C>A (n.2205+16C>A) c.2179C>A (p.Pro727Thr) c.2133+16C>A (n.2133+16C>A) c.1680-6187C>A (n.1680-6187C>A) c.2275C>A (p.Pro759Thr) c.2341C>A (p.Pro781Thr) c.2338C>A (p.Pro780Thr) c.2311C>A (p.Pro771Thr) c.2257C>A (p.Pro753Thr) c.2230C>A (p.Pro744Thr) c.2215C>A (p.Pro739Thr) c.1822C>A (p.Pro608Thr) c.2284C>A (p.Pro762Thr) c.2221C>A (p.Pro741Thr) c.2218C>A (p.Pro740Thr) c.2176C>A (p.Pro726Thr) c.1249C>A (p.Pro417Thr) | gnomAD v4 |
20 | g.63407031C>A | CA317422098 | KCNQ2 | c.2286G>T (p.Pro762=) c.2232G>T (p.Pro744=) c.1629G>T (p.Pro543=) c.2139G>T (p.Pro713=) c.1800G>T (p.Pro600=) c.2148G>T (p.Pro716=) c.2241+15G>T (n.2241+15G>T) c.2205+15G>T (n.2205+15G>T) c.2178G>T (p.Pro726=) c.2133+15G>T (n.2133+15G>T) c.1680-6188G>T (n.1680-6188G>T) c.2274G>T (p.Pro758=) c.2340G>T (p.Pro780=) c.2337G>T (p.Pro779=) c.2310G>T (p.Pro770=) c.2256G>T (p.Pro752=) c.2229G>T (p.Pro743=) c.2214G>T (p.Pro738=) c.1821G>T (p.Pro607=) c.2283G>T (p.Pro761=) c.2220G>T (p.Pro740=) c.2217G>T (p.Pro739=) c.2175G>T (p.Pro725=) c.1248G>T (p.Pro416=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407031C= | CA2374774378 | KCNQ2 | c.2286G= (p.Pro762=) c.2232G= (p.Pro744=) c.1629G= (p.Pro543=) c.2139G= (p.Pro713=) c.1800G= (p.Pro600=) c.2148G= (p.Pro716=) c.2241+15G= (n.2241+15G=) c.2205+15G= (n.2205+15G=) c.2178G= (p.Pro726=) c.2133+15G= (n.2133+15G=) c.1680-6188G= (n.1680-6188G=) c.2274G= (p.Pro758=) c.2340G= (p.Pro780=) c.2337G= (p.Pro779=) c.2310G= (p.Pro770=) c.2256G= (p.Pro752=) c.2229G= (p.Pro743=) c.2214G= (p.Pro738=) c.1821G= (p.Pro607=) c.2283G= (p.Pro761=) c.2220G= (p.Pro740=) c.2217G= (p.Pro739=) c.2175G= (p.Pro725=) c.1248G= (p.Pro416=) | |
20 | g.63407031C>G | CA511339461 | KCNQ2 | c.2286G>C (p.Pro762=) c.2232G>C (p.Pro744=) c.1629G>C (p.Pro543=) c.2139G>C (p.Pro713=) c.1800G>C (p.Pro600=) c.2148G>C (p.Pro716=) c.2241+15G>C (n.2241+15G>C) c.2205+15G>C (n.2205+15G>C) c.2178G>C (p.Pro726=) c.2133+15G>C (n.2133+15G>C) c.1680-6188G>C (n.1680-6188G>C) c.2274G>C (p.Pro758=) c.2340G>C (p.Pro780=) c.2337G>C (p.Pro779=) c.2310G>C (p.Pro770=) c.2256G>C (p.Pro752=) c.2229G>C (p.Pro743=) c.2214G>C (p.Pro738=) c.1821G>C (p.Pro607=) c.2283G>C (p.Pro761=) c.2220G>C (p.Pro740=) c.2217G>C (p.Pro739=) c.2175G>C (p.Pro725=) c.1248G>C (p.Pro416=) | |
20 | g.63407031C>T | CA9958119 | KCNQ2 | c.2286G>A (p.Pro762=) c.2232G>A (p.Pro744=) c.1629G>A (p.Pro543=) c.2139G>A (p.Pro713=) c.1800G>A (p.Pro600=) c.2148G>A (p.Pro716=) c.2241+15G>A (n.2241+15G>A) c.2205+15G>A (n.2205+15G>A) c.2178G>A (p.Pro726=) c.2133+15G>A (n.2133+15G>A) c.1680-6188G>A (n.1680-6188G>A) c.2274G>A (p.Pro758=) c.2340G>A (p.Pro780=) c.2337G>A (p.Pro779=) c.2310G>A (p.Pro770=) c.2256G>A (p.Pro752=) c.2229G>A (p.Pro743=) c.2214G>A (p.Pro738=) c.1821G>A (p.Pro607=) c.2283G>A (p.Pro761=) c.2220G>A (p.Pro740=) c.2217G>A (p.Pro739=) c.2175G>A (p.Pro725=) c.1248G>A (p.Pro416=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407032G>A | CA409638349 | KCNQ2 | c.2285C>T (p.Pro762Leu) c.2231C>T (p.Pro744Leu) c.1628C>T (p.Pro543Leu) c.2138C>T (p.Pro713Leu) c.1799C>T (p.Pro600Leu) c.2147C>T (p.Pro716Leu) c.2241+14C>T (n.2241+14C>T) c.2205+14C>T (n.2205+14C>T) c.2177C>T (p.Pro726Leu) c.2133+14C>T (n.2133+14C>T) c.1680-6189C>T (n.1680-6189C>T) c.2273C>T (p.Pro758Leu) c.2339C>T (p.Pro780Leu) c.2336C>T (p.Pro779Leu) c.2309C>T (p.Pro770Leu) c.2255C>T (p.Pro752Leu) c.2228C>T (p.Pro743Leu) c.2213C>T (p.Pro738Leu) c.1820C>T (p.Pro607Leu) c.2282C>T (p.Pro761Leu) c.2219C>T (p.Pro740Leu) c.2216C>T (p.Pro739Leu) c.2174C>T (p.Pro725Leu) c.1247C>T (p.Pro416Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407032G>C | CA409638352 | KCNQ2 | c.2285C>G (p.Pro762Arg) c.2231C>G (p.Pro744Arg) c.1628C>G (p.Pro543Arg) c.2138C>G (p.Pro713Arg) c.1799C>G (p.Pro600Arg) c.2147C>G (p.Pro716Arg) c.2241+14C>G (n.2241+14C>G) c.2205+14C>G (n.2205+14C>G) c.2177C>G (p.Pro726Arg) c.2133+14C>G (n.2133+14C>G) c.1680-6189C>G (n.1680-6189C>G) c.2273C>G (p.Pro758Arg) c.2339C>G (p.Pro780Arg) c.2336C>G (p.Pro779Arg) c.2309C>G (p.Pro770Arg) c.2255C>G (p.Pro752Arg) c.2228C>G (p.Pro743Arg) c.2213C>G (p.Pro738Arg) c.1820C>G (p.Pro607Arg) c.2282C>G (p.Pro761Arg) c.2219C>G (p.Pro740Arg) c.2216C>G (p.Pro739Arg) c.2174C>G (p.Pro725Arg) c.1247C>G (p.Pro416Arg) | |
20 | g.63407032G= | CA2374774379 | KCNQ2 | c.2285C= (p.Pro762=) c.2231C= (p.Pro744=) c.1628C= (p.Pro543=) c.2138C= (p.Pro713=) c.1799C= (p.Pro600=) c.2147C= (p.Pro716=) c.2241+14C= (n.2241+14C=) c.2205+14C= (n.2205+14C=) c.2177C= (p.Pro726=) c.2133+14C= (n.2133+14C=) c.1680-6189C= (n.1680-6189C=) c.2273C= (p.Pro758=) c.2339C= (p.Pro780=) c.2336C= (p.Pro779=) c.2309C= (p.Pro770=) c.2255C= (p.Pro752=) c.2228C= (p.Pro743=) c.2213C= (p.Pro738=) c.1820C= (p.Pro607=) c.2282C= (p.Pro761=) c.2219C= (p.Pro740=) c.2216C= (p.Pro739=) c.2174C= (p.Pro725=) c.1247C= (p.Pro416=) | |
20 | g.63407032G>T | CA409638355 | KCNQ2 | c.2285C>A (p.Pro762Gln) c.2231C>A (p.Pro744Gln) c.1628C>A (p.Pro543Gln) c.2138C>A (p.Pro713Gln) c.1799C>A (p.Pro600Gln) c.2147C>A (p.Pro716Gln) c.2241+14C>A (n.2241+14C>A) c.2205+14C>A (n.2205+14C>A) c.2177C>A (p.Pro726Gln) c.2133+14C>A (n.2133+14C>A) c.1680-6189C>A (n.1680-6189C>A) c.2273C>A (p.Pro758Gln) c.2339C>A (p.Pro780Gln) c.2336C>A (p.Pro779Gln) c.2309C>A (p.Pro770Gln) c.2255C>A (p.Pro752Gln) c.2228C>A (p.Pro743Gln) c.2213C>A (p.Pro738Gln) c.1820C>A (p.Pro607Gln) c.2282C>A (p.Pro761Gln) c.2219C>A (p.Pro740Gln) c.2216C>A (p.Pro739Gln) c.2174C>A (p.Pro725Gln) c.1247C>A (p.Pro416Gln) | gnomAD v4 |
20 | g.63407033G>A | CA9958120 | KCNQ2 | c.2284C>T (p.Pro762Ser) c.2230C>T (p.Pro744Ser) c.1627C>T (p.Pro543Ser) c.2137C>T (p.Pro713Ser) c.1798C>T (p.Pro600Ser) c.2146C>T (p.Pro716Ser) c.2241+13C>T (n.2241+13C>T) c.2205+13C>T (n.2205+13C>T) c.2176C>T (p.Pro726Ser) c.2133+13C>T (n.2133+13C>T) c.1680-6190C>T (n.1680-6190C>T) c.2272C>T (p.Pro758Ser) c.2338C>T (p.Pro780Ser) c.2335C>T (p.Pro779Ser) c.2308C>T (p.Pro770Ser) c.2254C>T (p.Pro752Ser) c.2227C>T (p.Pro743Ser) c.2212C>T (p.Pro738Ser) c.1819C>T (p.Pro607Ser) c.2281C>T (p.Pro761Ser) c.2218C>T (p.Pro740Ser) c.2215C>T (p.Pro739Ser) c.2173C>T (p.Pro725Ser) c.1246C>T (p.Pro416Ser) | dbSNP ExAC gnomAD v4 |
20 | g.63407033G>C | CA409638366 | KCNQ2 | c.2284C>G (p.Pro762Ala) c.2230C>G (p.Pro744Ala) c.1627C>G (p.Pro543Ala) c.2137C>G (p.Pro713Ala) c.1798C>G (p.Pro600Ala) c.2146C>G (p.Pro716Ala) c.2241+13C>G (n.2241+13C>G) c.2205+13C>G (n.2205+13C>G) c.2176C>G (p.Pro726Ala) c.2133+13C>G (n.2133+13C>G) c.1680-6190C>G (n.1680-6190C>G) c.2272C>G (p.Pro758Ala) c.2338C>G (p.Pro780Ala) c.2335C>G (p.Pro779Ala) c.2308C>G (p.Pro770Ala) c.2254C>G (p.Pro752Ala) c.2227C>G (p.Pro743Ala) c.2212C>G (p.Pro738Ala) c.1819C>G (p.Pro607Ala) c.2281C>G (p.Pro761Ala) c.2218C>G (p.Pro740Ala) c.2215C>G (p.Pro739Ala) c.2173C>G (p.Pro725Ala) c.1246C>G (p.Pro416Ala) | |
20 | g.63407033G= | CA2374774380 | KCNQ2 | c.2284C= (p.Pro762=) c.2230C= (p.Pro744=) c.1627C= (p.Pro543=) c.2137C= (p.Pro713=) c.1798C= (p.Pro600=) c.2146C= (p.Pro716=) c.2241+13C= (n.2241+13C=) c.2205+13C= (n.2205+13C=) c.2176C= (p.Pro726=) c.2133+13C= (n.2133+13C=) c.1680-6190C= (n.1680-6190C=) c.2272C= (p.Pro758=) c.2338C= (p.Pro780=) c.2335C= (p.Pro779=) c.2308C= (p.Pro770=) c.2254C= (p.Pro752=) c.2227C= (p.Pro743=) c.2212C= (p.Pro738=) c.1819C= (p.Pro607=) c.2281C= (p.Pro761=) c.2218C= (p.Pro740=) c.2215C= (p.Pro739=) c.2173C= (p.Pro725=) c.1246C= (p.Pro416=) | |
20 | g.63407033G>T | CA409638368 | KCNQ2 | c.2284C>A (p.Pro762Thr) c.2230C>A (p.Pro744Thr) c.1627C>A (p.Pro543Thr) c.2137C>A (p.Pro713Thr) c.1798C>A (p.Pro600Thr) c.2146C>A (p.Pro716Thr) c.2241+13C>A (n.2241+13C>A) c.2205+13C>A (n.2205+13C>A) c.2176C>A (p.Pro726Thr) c.2133+13C>A (n.2133+13C>A) c.1680-6190C>A (n.1680-6190C>A) c.2272C>A (p.Pro758Thr) c.2338C>A (p.Pro780Thr) c.2335C>A (p.Pro779Thr) c.2308C>A (p.Pro770Thr) c.2254C>A (p.Pro752Thr) c.2227C>A (p.Pro743Thr) c.2212C>A (p.Pro738Thr) c.1819C>A (p.Pro607Thr) c.2281C>A (p.Pro761Thr) c.2218C>A (p.Pro740Thr) c.2215C>A (p.Pro739Thr) c.2173C>A (p.Pro725Thr) c.1246C>A (p.Pro416Thr) | gnomAD v4 |
20 | g.63407034C>A | CA511339462 | KCNQ2 | c.2283G>T (p.Pro761=) c.2229G>T (p.Pro743=) c.1626G>T (p.Pro542=) c.2136G>T (p.Pro712=) c.1797G>T (p.Pro599=) c.2145G>T (p.Pro715=) c.2241+12G>T (n.2241+12G>T) c.2205+12G>T (n.2205+12G>T) c.2175G>T (p.Pro725=) c.2133+12G>T (n.2133+12G>T) c.1680-6191G>T (n.1680-6191G>T) c.2271G>T (p.Pro757=) c.2337G>T (p.Pro779=) c.2334G>T (p.Pro778=) c.2307G>T (p.Pro769=) c.2253G>T (p.Pro751=) c.2226G>T (p.Pro742=) c.2211G>T (p.Pro737=) c.1818G>T (p.Pro606=) c.2280G>T (p.Pro760=) c.2217G>T (p.Pro739=) c.2214G>T (p.Pro738=) c.2172G>T (p.Pro724=) c.1245G>T (p.Pro415=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.63407034C= | CA2374774381 | KCNQ2 | c.2283G= (p.Pro761=) c.2229G= (p.Pro743=) c.1626G= (p.Pro542=) c.2136G= (p.Pro712=) c.1797G= (p.Pro599=) c.2145G= (p.Pro715=) c.2241+12G= (n.2241+12G=) c.2205+12G= (n.2205+12G=) c.2175G= (p.Pro725=) c.2133+12G= (n.2133+12G=) c.1680-6191G= (n.1680-6191G=) c.2271G= (p.Pro757=) c.2337G= (p.Pro779=) c.2334G= (p.Pro778=) c.2307G= (p.Pro769=) c.2253G= (p.Pro751=) c.2226G= (p.Pro742=) c.2211G= (p.Pro737=) c.1818G= (p.Pro606=) c.2280G= (p.Pro760=) c.2217G= (p.Pro739=) c.2214G= (p.Pro738=) c.2172G= (p.Pro724=) c.1245G= (p.Pro415=) | |
20 | g.63407034C>G | CA511339463 | KCNQ2 | c.2283G>C (p.Pro761=) c.2229G>C (p.Pro743=) c.1626G>C (p.Pro542=) c.2136G>C (p.Pro712=) c.1797G>C (p.Pro599=) c.2145G>C (p.Pro715=) c.2241+12G>C (n.2241+12G>C) c.2205+12G>C (n.2205+12G>C) c.2175G>C (p.Pro725=) c.2133+12G>C (n.2133+12G>C) c.1680-6191G>C (n.1680-6191G>C) c.2271G>C (p.Pro757=) c.2337G>C (p.Pro779=) c.2334G>C (p.Pro778=) c.2307G>C (p.Pro769=) c.2253G>C (p.Pro751=) c.2226G>C (p.Pro742=) c.2211G>C (p.Pro737=) c.1818G>C (p.Pro606=) c.2280G>C (p.Pro760=) c.2217G>C (p.Pro739=) c.2214G>C (p.Pro738=) c.2172G>C (p.Pro724=) c.1245G>C (p.Pro415=) | |
20 | g.63407034C>T | CA511339464 | KCNQ2 | c.2283G>A (p.Pro761=) c.2229G>A (p.Pro743=) c.1626G>A (p.Pro542=) c.2136G>A (p.Pro712=) c.1797G>A (p.Pro599=) c.2145G>A (p.Pro715=) c.2241+12G>A (n.2241+12G>A) c.2205+12G>A (n.2205+12G>A) c.2175G>A (p.Pro725=) c.2133+12G>A (n.2133+12G>A) c.1680-6191G>A (n.1680-6191G>A) c.2271G>A (p.Pro757=) c.2337G>A (p.Pro779=) c.2334G>A (p.Pro778=) c.2307G>A (p.Pro769=) c.2253G>A (p.Pro751=) c.2226G>A (p.Pro742=) c.2211G>A (p.Pro737=) c.1818G>A (p.Pro606=) c.2280G>A (p.Pro760=) c.2217G>A (p.Pro739=) c.2214G>A (p.Pro738=) c.2172G>A (p.Pro724=) c.1245G>A (p.Pro415=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407035G>A | CA409638383 | KCNQ2 | c.2282C>T (p.Pro761Leu) c.2228C>T (p.Pro743Leu) c.1625C>T (p.Pro542Leu) c.2135C>T (p.Pro712Leu) c.1796C>T (p.Pro599Leu) c.2144C>T (p.Pro715Leu) c.2241+11C>T (n.2241+11C>T) c.2205+11C>T (n.2205+11C>T) c.2174C>T (p.Pro725Leu) c.2133+11C>T (n.2133+11C>T) c.1680-6192C>T (n.1680-6192C>T) c.2270C>T (p.Pro757Leu) c.2336C>T (p.Pro779Leu) c.2333C>T (p.Pro778Leu) c.2306C>T (p.Pro769Leu) c.2252C>T (p.Pro751Leu) c.2225C>T (p.Pro742Leu) c.2210C>T (p.Pro737Leu) c.1817C>T (p.Pro606Leu) c.2279C>T (p.Pro760Leu) c.2216C>T (p.Pro739Leu) c.2213C>T (p.Pro738Leu) c.2171C>T (p.Pro724Leu) c.1244C>T (p.Pro415Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407035G>C | CA409638374 | KCNQ2 | c.2282C>G (p.Pro761Arg) c.2228C>G (p.Pro743Arg) c.1625C>G (p.Pro542Arg) c.2135C>G (p.Pro712Arg) c.1796C>G (p.Pro599Arg) c.2144C>G (p.Pro715Arg) c.2241+11C>G (n.2241+11C>G) c.2205+11C>G (n.2205+11C>G) c.2174C>G (p.Pro725Arg) c.2133+11C>G (n.2133+11C>G) c.1680-6192C>G (n.1680-6192C>G) c.2270C>G (p.Pro757Arg) c.2336C>G (p.Pro779Arg) c.2333C>G (p.Pro778Arg) c.2306C>G (p.Pro769Arg) c.2252C>G (p.Pro751Arg) c.2225C>G (p.Pro742Arg) c.2210C>G (p.Pro737Arg) c.1817C>G (p.Pro606Arg) c.2279C>G (p.Pro760Arg) c.2216C>G (p.Pro739Arg) c.2213C>G (p.Pro738Arg) c.2171C>G (p.Pro724Arg) c.1244C>G (p.Pro415Arg) | |
20 | g.63407035G= | CA2374774382 | KCNQ2 | c.2282C= (p.Pro761=) c.2228C= (p.Pro743=) c.1625C= (p.Pro542=) c.2135C= (p.Pro712=) c.1796C= (p.Pro599=) c.2144C= (p.Pro715=) c.2241+11C= (n.2241+11C=) c.2205+11C= (n.2205+11C=) c.2174C= (p.Pro725=) c.2133+11C= (n.2133+11C=) c.1680-6192C= (n.1680-6192C=) c.2270C= (p.Pro757=) c.2336C= (p.Pro779=) c.2333C= (p.Pro778=) c.2306C= (p.Pro769=) c.2252C= (p.Pro751=) c.2225C= (p.Pro742=) c.2210C= (p.Pro737=) c.1817C= (p.Pro606=) c.2279C= (p.Pro760=) c.2216C= (p.Pro739=) c.2213C= (p.Pro738=) c.2171C= (p.Pro724=) c.1244C= (p.Pro415=) | |
20 | g.63407035G>T | CA9958121 | KCNQ2 | c.2282C>A (p.Pro761Gln) c.2228C>A (p.Pro743Gln) c.1625C>A (p.Pro542Gln) c.2135C>A (p.Pro712Gln) c.1796C>A (p.Pro599Gln) c.2144C>A (p.Pro715Gln) c.2241+11C>A (n.2241+11C>A) c.2205+11C>A (n.2205+11C>A) c.2174C>A (p.Pro725Gln) c.2133+11C>A (n.2133+11C>A) c.1680-6192C>A (n.1680-6192C>A) c.2270C>A (p.Pro757Gln) c.2336C>A (p.Pro779Gln) c.2333C>A (p.Pro778Gln) c.2306C>A (p.Pro769Gln) c.2252C>A (p.Pro751Gln) c.2225C>A (p.Pro742Gln) c.2210C>A (p.Pro737Gln) c.1817C>A (p.Pro606Gln) c.2279C>A (p.Pro760Gln) c.2216C>A (p.Pro739Gln) c.2213C>A (p.Pro738Gln) c.2171C>A (p.Pro724Gln) c.1244C>A (p.Pro415Gln) | dbSNP ExAC gnomAD v4 |
20 | g.63407036G>A | CA409638387 | KCNQ2 | c.2281C>T (p.Pro761Ser) c.2227C>T (p.Pro743Ser) c.1624C>T (p.Pro542Ser) c.2134C>T (p.Pro712Ser) c.1795C>T (p.Pro599Ser) c.2143C>T (p.Pro715Ser) c.2241+10C>T (n.2241+10C>T) c.2205+10C>T (n.2205+10C>T) c.2173C>T (p.Pro725Ser) c.2133+10C>T (n.2133+10C>T) c.1680-6193C>T (n.1680-6193C>T) c.2269C>T (p.Pro757Ser) c.2335C>T (p.Pro779Ser) c.2332C>T (p.Pro778Ser) c.2305C>T (p.Pro769Ser) c.2251C>T (p.Pro751Ser) c.2224C>T (p.Pro742Ser) c.2209C>T (p.Pro737Ser) c.1816C>T (p.Pro606Ser) c.2278C>T (p.Pro760Ser) c.2215C>T (p.Pro739Ser) c.2212C>T (p.Pro738Ser) c.2170C>T (p.Pro724Ser) c.1243C>T (p.Pro415Ser) | gnomAD v4 |
20 | g.63407036G>C | CA409638389 | KCNQ2 | c.2281C>G (p.Pro761Ala) c.2227C>G (p.Pro743Ala) c.1624C>G (p.Pro542Ala) c.2134C>G (p.Pro712Ala) c.1795C>G (p.Pro599Ala) c.2143C>G (p.Pro715Ala) c.2241+10C>G (n.2241+10C>G) c.2205+10C>G (n.2205+10C>G) c.2173C>G (p.Pro725Ala) c.2133+10C>G (n.2133+10C>G) c.1680-6193C>G (n.1680-6193C>G) c.2269C>G (p.Pro757Ala) c.2335C>G (p.Pro779Ala) c.2332C>G (p.Pro778Ala) c.2305C>G (p.Pro769Ala) c.2251C>G (p.Pro751Ala) c.2224C>G (p.Pro742Ala) c.2209C>G (p.Pro737Ala) c.1816C>G (p.Pro606Ala) c.2278C>G (p.Pro760Ala) c.2215C>G (p.Pro739Ala) c.2212C>G (p.Pro738Ala) c.2170C>G (p.Pro724Ala) c.1243C>G (p.Pro415Ala) | |
20 | g.63407036G>T | CA409638393 | KCNQ2 | c.2281C>A (p.Pro761Thr) c.2227C>A (p.Pro743Thr) c.1624C>A (p.Pro542Thr) c.2134C>A (p.Pro712Thr) c.1795C>A (p.Pro599Thr) c.2143C>A (p.Pro715Thr) c.2241+10C>A (n.2241+10C>A) c.2205+10C>A (n.2205+10C>A) c.2173C>A (p.Pro725Thr) c.2133+10C>A (n.2133+10C>A) c.1680-6193C>A (n.1680-6193C>A) c.2269C>A (p.Pro757Thr) c.2335C>A (p.Pro779Thr) c.2332C>A (p.Pro778Thr) c.2305C>A (p.Pro769Thr) c.2251C>A (p.Pro751Thr) c.2224C>A (p.Pro742Thr) c.2209C>A (p.Pro737Thr) c.1816C>A (p.Pro606Thr) c.2278C>A (p.Pro760Thr) c.2215C>A (p.Pro739Thr) c.2212C>A (p.Pro738Thr) c.2170C>A (p.Pro724Thr) c.1243C>A (p.Pro415Thr) | gnomAD v4 |
20 | g.63407037G>A | CA511339466 | KCNQ2 | c.2280C>T (p.Ile760=) c.2226C>T (p.Ile742=) c.1623C>T (p.Ile541=) c.2133C>T (p.Ile711=) c.1794C>T (p.Ile598=) c.2142C>T (p.Ile714=) c.2241+9C>T (n.2241+9C>T) c.2205+9C>T (n.2205+9C>T) c.2172C>T (p.Ile724=) c.2133+9C>T (n.2133+9C>T) c.1680-6194C>T (n.1680-6194C>T) c.2268C>T (p.Ile756=) c.2334C>T (p.Ile778=) c.2331C>T (p.Ile777=) c.2304C>T (p.Ile768=) c.2250C>T (p.Ile750=) c.2223C>T (p.Ile741=) c.2208C>T (p.Ile736=) c.1815C>T (p.Ile605=) c.2277C>T (p.Ile759=) c.2214C>T (p.Ile738=) c.2211C>T (p.Ile737=) c.2169C>T (p.Ile723=) c.1242C>T (p.Ile414=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407037G>C | CA409638395 | KCNQ2 | c.2280C>G (p.Ile760Met) c.2226C>G (p.Ile742Met) c.1623C>G (p.Ile541Met) c.2133C>G (p.Ile711Met) c.1794C>G (p.Ile598Met) c.2142C>G (p.Ile714Met) c.2241+9C>G (n.2241+9C>G) c.2205+9C>G (n.2205+9C>G) c.2172C>G (p.Ile724Met) c.2133+9C>G (n.2133+9C>G) c.1680-6194C>G (n.1680-6194C>G) c.2268C>G (p.Ile756Met) c.2334C>G (p.Ile778Met) c.2331C>G (p.Ile777Met) c.2304C>G (p.Ile768Met) c.2250C>G (p.Ile750Met) c.2223C>G (p.Ile741Met) c.2208C>G (p.Ile736Met) c.1815C>G (p.Ile605Met) c.2277C>G (p.Ile759Met) c.2214C>G (p.Ile738Met) c.2211C>G (p.Ile737Met) c.2169C>G (p.Ile723Met) c.1242C>G (p.Ile414Met) | |
20 | g.63407037G= | CA2374774383 | KCNQ2 | c.2280C= (p.Ile760=) c.2226C= (p.Ile742=) c.1623C= (p.Ile541=) c.2133C= (p.Ile711=) c.1794C= (p.Ile598=) c.2142C= (p.Ile714=) c.2241+9C= (n.2241+9C=) c.2205+9C= (n.2205+9C=) c.2172C= (p.Ile724=) c.2133+9C= (n.2133+9C=) c.1680-6194C= (n.1680-6194C=) c.2268C= (p.Ile756=) c.2334C= (p.Ile778=) c.2331C= (p.Ile777=) c.2304C= (p.Ile768=) c.2250C= (p.Ile750=) c.2223C= (p.Ile741=) c.2208C= (p.Ile736=) c.1815C= (p.Ile605=) c.2277C= (p.Ile759=) c.2214C= (p.Ile738=) c.2211C= (p.Ile737=) c.2169C= (p.Ile723=) c.1242C= (p.Ile414=) | |
20 | g.63407037G>T | CA511339465 | KCNQ2 | c.2280C>A (p.Ile760=) c.2226C>A (p.Ile742=) c.1623C>A (p.Ile541=) c.2133C>A (p.Ile711=) c.1794C>A (p.Ile598=) c.2142C>A (p.Ile714=) c.2241+9C>A (n.2241+9C>A) c.2205+9C>A (n.2205+9C>A) c.2172C>A (p.Ile724=) c.2133+9C>A (n.2133+9C>A) c.1680-6194C>A (n.1680-6194C>A) c.2268C>A (p.Ile756=) c.2334C>A (p.Ile778=) c.2331C>A (p.Ile777=) c.2304C>A (p.Ile768=) c.2250C>A (p.Ile750=) c.2223C>A (p.Ile741=) c.2208C>A (p.Ile736=) c.1815C>A (p.Ile605=) c.2277C>A (p.Ile759=) c.2214C>A (p.Ile738=) c.2211C>A (p.Ile737=) c.2169C>A (p.Ile723=) c.1242C>A (p.Ile414=) | dbSNP gnomAD v4 |
20 | g.63407038A>C | CA409638398 | KCNQ2 | c.2279T>G (p.Ile760Ser) c.2225T>G (p.Ile742Ser) c.1622T>G (p.Ile541Ser) c.2132T>G (p.Ile711Ser) c.1793T>G (p.Ile598Ser) c.2141T>G (p.Ile714Ser) c.2241+8T>G (n.2241+8T>G) c.2205+8T>G (n.2205+8T>G) c.2171T>G (p.Ile724Ser) c.2133+8T>G (n.2133+8T>G) c.1680-6195T>G (n.1680-6195T>G) c.2267T>G (p.Ile756Ser) c.2333T>G (p.Ile778Ser) c.2330T>G (p.Ile777Ser) c.2303T>G (p.Ile768Ser) c.2249T>G (p.Ile750Ser) c.2222T>G (p.Ile741Ser) c.2207T>G (p.Ile736Ser) c.1814T>G (p.Ile605Ser) c.2276T>G (p.Ile759Ser) c.2213T>G (p.Ile738Ser) c.2210T>G (p.Ile737Ser) c.2168T>G (p.Ile723Ser) c.1241T>G (p.Ile414Ser) | |
20 | g.63407038A>G | CA409638401 | KCNQ2 | c.2279T>C (p.Ile760Thr) c.2225T>C (p.Ile742Thr) c.1622T>C (p.Ile541Thr) c.2132T>C (p.Ile711Thr) c.1793T>C (p.Ile598Thr) c.2141T>C (p.Ile714Thr) c.2241+8T>C (n.2241+8T>C) c.2205+8T>C (n.2205+8T>C) c.2171T>C (p.Ile724Thr) c.2133+8T>C (n.2133+8T>C) c.1680-6195T>C (n.1680-6195T>C) c.2267T>C (p.Ile756Thr) c.2333T>C (p.Ile778Thr) c.2330T>C (p.Ile777Thr) c.2303T>C (p.Ile768Thr) c.2249T>C (p.Ile750Thr) c.2222T>C (p.Ile741Thr) c.2207T>C (p.Ile736Thr) c.1814T>C (p.Ile605Thr) c.2276T>C (p.Ile759Thr) c.2213T>C (p.Ile738Thr) c.2210T>C (p.Ile737Thr) c.2168T>C (p.Ile723Thr) c.1241T>C (p.Ile414Thr) | gnomAD v4 |
20 | g.63407038A>T | CA409638404 | KCNQ2 | c.2279T>A (p.Ile760Asn) c.2225T>A (p.Ile742Asn) c.1622T>A (p.Ile541Asn) c.2132T>A (p.Ile711Asn) c.1793T>A (p.Ile598Asn) c.2141T>A (p.Ile714Asn) c.2241+8T>A (n.2241+8T>A) c.2205+8T>A (n.2205+8T>A) c.2171T>A (p.Ile724Asn) c.2133+8T>A (n.2133+8T>A) c.1680-6195T>A (n.1680-6195T>A) c.2267T>A (p.Ile756Asn) c.2333T>A (p.Ile778Asn) c.2330T>A (p.Ile777Asn) c.2303T>A (p.Ile768Asn) c.2249T>A (p.Ile750Asn) c.2222T>A (p.Ile741Asn) c.2207T>A (p.Ile736Asn) c.1814T>A (p.Ile605Asn) c.2276T>A (p.Ile759Asn) c.2213T>A (p.Ile738Asn) c.2210T>A (p.Ile737Asn) c.2168T>A (p.Ile723Asn) c.1241T>A (p.Ile414Asn) | gnomAD v4 |
20 | g.63407039T>A | CA409638407 | KCNQ2 | c.2278A>T (p.Ile760Phe) c.2224A>T (p.Ile742Phe) c.1621A>T (p.Ile541Phe) c.2131A>T (p.Ile711Phe) c.1792A>T (p.Ile598Phe) c.2140A>T (p.Ile714Phe) c.2241+7A>T (n.2241+7A>T) c.2205+7A>T (n.2205+7A>T) c.2170A>T (p.Ile724Phe) c.2133+7A>T (n.2133+7A>T) c.1680-6196A>T (n.1680-6196A>T) c.2266A>T (p.Ile756Phe) c.2332A>T (p.Ile778Phe) c.2329A>T (p.Ile777Phe) c.2302A>T (p.Ile768Phe) c.2248A>T (p.Ile750Phe) c.2221A>T (p.Ile741Phe) c.2206A>T (p.Ile736Phe) c.1813A>T (p.Ile605Phe) c.2275A>T (p.Ile759Phe) c.2212A>T (p.Ile738Phe) c.2209A>T (p.Ile737Phe) c.2167A>T (p.Ile723Phe) c.1240A>T (p.Ile414Phe) | |
20 | g.63407039T>C | CA409638410 | KCNQ2 | c.2278A>G (p.Ile760Val) c.2224A>G (p.Ile742Val) c.1621A>G (p.Ile541Val) c.2131A>G (p.Ile711Val) c.1792A>G (p.Ile598Val) c.2140A>G (p.Ile714Val) c.2241+7A>G (n.2241+7A>G) c.2205+7A>G (n.2205+7A>G) c.2170A>G (p.Ile724Val) c.2133+7A>G (n.2133+7A>G) c.1680-6196A>G (n.1680-6196A>G) c.2266A>G (p.Ile756Val) c.2332A>G (p.Ile778Val) c.2329A>G (p.Ile777Val) c.2302A>G (p.Ile768Val) c.2248A>G (p.Ile750Val) c.2221A>G (p.Ile741Val) c.2206A>G (p.Ile736Val) c.1813A>G (p.Ile605Val) c.2275A>G (p.Ile759Val) c.2212A>G (p.Ile738Val) c.2209A>G (p.Ile737Val) c.2167A>G (p.Ile723Val) c.1240A>G (p.Ile414Val) | |
20 | g.63407039T>G | CA409638413 | KCNQ2 | c.2278A>C (p.Ile760Leu) c.2224A>C (p.Ile742Leu) c.1621A>C (p.Ile541Leu) c.2131A>C (p.Ile711Leu) c.1792A>C (p.Ile598Leu) c.2140A>C (p.Ile714Leu) c.2241+7A>C (n.2241+7A>C) c.2205+7A>C (n.2205+7A>C) c.2170A>C (p.Ile724Leu) c.2133+7A>C (n.2133+7A>C) c.1680-6196A>C (n.1680-6196A>C) c.2266A>C (p.Ile756Leu) c.2332A>C (p.Ile778Leu) c.2329A>C (p.Ile777Leu) c.2302A>C (p.Ile768Leu) c.2248A>C (p.Ile750Leu) c.2221A>C (p.Ile741Leu) c.2206A>C (p.Ile736Leu) c.1813A>C (p.Ile605Leu) c.2275A>C (p.Ile759Leu) c.2212A>C (p.Ile738Leu) c.2209A>C (p.Ile737Leu) c.2167A>C (p.Ile723Leu) c.1240A>C (p.Ile414Leu) | |
20 | g.63407040G>A | CA511339467 | KCNQ2 | c.2277C>T (p.Arg759=) c.2223C>T (p.Arg741=) c.1620C>T (p.Arg540=) c.2130C>T (p.Arg710=) c.1791C>T (p.Arg597=) c.2139C>T (p.Arg713=) c.2241+6C>T (n.2241+6C>T) c.2205+6C>T (n.2205+6C>T) c.2169C>T (p.Arg723=) c.2133+6C>T (n.2133+6C>T) c.1680-6197C>T (n.1680-6197C>T) c.2265C>T (p.Arg755=) c.2331C>T (p.Arg777=) c.2328C>T (p.Arg776=) c.2301C>T (p.Arg767=) c.2247C>T (p.Arg749=) c.2220C>T (p.Arg740=) c.2205C>T (p.Arg735=) c.1812C>T (p.Arg604=) c.2274C>T (p.Arg758=) c.2211C>T (p.Arg737=) c.2208C>T (p.Arg736=) c.2166C>T (p.Arg722=) c.1239C>T (p.Arg413=) | dbSNP gnomAD v2 |
20 | g.63407040G>C | CA511339468 | KCNQ2 | c.2277C>G (p.Arg759=) c.2223C>G (p.Arg741=) c.1620C>G (p.Arg540=) c.2130C>G (p.Arg710=) c.1791C>G (p.Arg597=) c.2139C>G (p.Arg713=) c.2241+6C>G (n.2241+6C>G) c.2205+6C>G (n.2205+6C>G) c.2169C>G (p.Arg723=) c.2133+6C>G (n.2133+6C>G) c.1680-6197C>G (n.1680-6197C>G) c.2265C>G (p.Arg755=) c.2331C>G (p.Arg777=) c.2328C>G (p.Arg776=) c.2301C>G (p.Arg767=) c.2247C>G (p.Arg749=) c.2220C>G (p.Arg740=) c.2205C>G (p.Arg735=) c.1812C>G (p.Arg604=) c.2274C>G (p.Arg758=) c.2211C>G (p.Arg737=) c.2208C>G (p.Arg736=) c.2166C>G (p.Arg722=) c.1239C>G (p.Arg413=) | |
20 | g.63407040G= | CA2374774384 | KCNQ2 | c.2277C= (p.Arg759=) c.2223C= (p.Arg741=) c.1620C= (p.Arg540=) c.2130C= (p.Arg710=) c.1791C= (p.Arg597=) c.2139C= (p.Arg713=) c.2241+6C= (n.2241+6C=) c.2205+6C= (n.2205+6C=) c.2169C= (p.Arg723=) c.2133+6C= (n.2133+6C=) c.1680-6197C= (n.1680-6197C=) c.2265C= (p.Arg755=) c.2331C= (p.Arg777=) c.2328C= (p.Arg776=) c.2301C= (p.Arg767=) c.2247C= (p.Arg749=) c.2220C= (p.Arg740=) c.2205C= (p.Arg735=) c.1812C= (p.Arg604=) c.2274C= (p.Arg758=) c.2211C= (p.Arg737=) c.2208C= (p.Arg736=) c.2166C= (p.Arg722=) c.1239C= (p.Arg413=) | |
20 | g.63407040G>T | CA511339469 | KCNQ2 | c.2277C>A (p.Arg759=) c.2223C>A (p.Arg741=) c.1620C>A (p.Arg540=) c.2130C>A (p.Arg710=) c.1791C>A (p.Arg597=) c.2139C>A (p.Arg713=) c.2241+6C>A (n.2241+6C>A) c.2205+6C>A (n.2205+6C>A) c.2169C>A (p.Arg723=) c.2133+6C>A (n.2133+6C>A) c.1680-6197C>A (n.1680-6197C>A) c.2265C>A (p.Arg755=) c.2331C>A (p.Arg777=) c.2328C>A (p.Arg776=) c.2301C>A (p.Arg767=) c.2247C>A (p.Arg749=) c.2220C>A (p.Arg740=) c.2205C>A (p.Arg735=) c.1812C>A (p.Arg604=) c.2274C>A (p.Arg758=) c.2211C>A (p.Arg737=) c.2208C>A (p.Arg736=) c.2166C>A (p.Arg722=) c.1239C>A (p.Arg413=) | gnomAD v4 |
20 | g.63407041C>A | CA409638416 | KCNQ2 | c.2276G>T (p.Arg759Leu) c.2222G>T (p.Arg741Leu) c.1619G>T (p.Arg540Leu) c.2129G>T (p.Arg710Leu) c.1790G>T (p.Arg597Leu) c.2138G>T (p.Arg713Leu) c.2241+5G>T (n.2241+5G>T) c.2205+5G>T (n.2205+5G>T) c.2168G>T (p.Arg723Leu) c.2133+5G>T (n.2133+5G>T) c.1680-6198G>T (n.1680-6198G>T) c.2264G>T (p.Arg755Leu) c.2330G>T (p.Arg777Leu) c.2327G>T (p.Arg776Leu) c.2300G>T (p.Arg767Leu) c.2246G>T (p.Arg749Leu) c.2219G>T (p.Arg740Leu) c.2204G>T (p.Arg735Leu) c.1811G>T (p.Arg604Leu) c.2273G>T (p.Arg758Leu) c.2210G>T (p.Arg737Leu) c.2207G>T (p.Arg736Leu) c.2165G>T (p.Arg722Leu) c.1238G>T (p.Arg413Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407041C= | CA2374774385 | KCNQ2 | c.2276G= (p.Arg759=) c.2222G= (p.Arg741=) c.1619G= (p.Arg540=) c.2129G= (p.Arg710=) c.1790G= (p.Arg597=) c.2138G= (p.Arg713=) c.2241+5G= (n.2241+5G=) c.2205+5G= (n.2205+5G=) c.2168G= (p.Arg723=) c.2133+5G= (n.2133+5G=) c.1680-6198G= (n.1680-6198G=) c.2264G= (p.Arg755=) c.2330G= (p.Arg777=) c.2327G= (p.Arg776=) c.2300G= (p.Arg767=) c.2246G= (p.Arg749=) c.2219G= (p.Arg740=) c.2204G= (p.Arg735=) c.1811G= (p.Arg604=) c.2273G= (p.Arg758=) c.2210G= (p.Arg737=) c.2207G= (p.Arg736=) c.2165G= (p.Arg722=) c.1238G= (p.Arg413=) | |
20 | g.63407041C>G | CA409638418 | KCNQ2 | c.2276G>C (p.Arg759Pro) c.2222G>C (p.Arg741Pro) c.1619G>C (p.Arg540Pro) c.2129G>C (p.Arg710Pro) c.1790G>C (p.Arg597Pro) c.2138G>C (p.Arg713Pro) c.2241+5G>C (n.2241+5G>C) c.2205+5G>C (n.2205+5G>C) c.2168G>C (p.Arg723Pro) c.2133+5G>C (n.2133+5G>C) c.1680-6198G>C (n.1680-6198G>C) c.2264G>C (p.Arg755Pro) c.2330G>C (p.Arg777Pro) c.2327G>C (p.Arg776Pro) c.2300G>C (p.Arg767Pro) c.2246G>C (p.Arg749Pro) c.2219G>C (p.Arg740Pro) c.2204G>C (p.Arg735Pro) c.1811G>C (p.Arg604Pro) c.2273G>C (p.Arg758Pro) c.2210G>C (p.Arg737Pro) c.2207G>C (p.Arg736Pro) c.2165G>C (p.Arg722Pro) c.1238G>C (p.Arg413Pro) | gnomAD v4 |
20 | g.63407041C>T | CA409638421 | KCNQ2 | c.2276G>A (p.Arg759His) c.2222G>A (p.Arg741His) c.1619G>A (p.Arg540His) c.2129G>A (p.Arg710His) c.1790G>A (p.Arg597His) c.2138G>A (p.Arg713His) c.2241+5G>A (n.2241+5G>A) c.2205+5G>A (n.2205+5G>A) c.2168G>A (p.Arg723His) c.2133+5G>A (n.2133+5G>A) c.1680-6198G>A (n.1680-6198G>A) c.2264G>A (p.Arg755His) c.2330G>A (p.Arg777His) c.2327G>A (p.Arg776His) c.2300G>A (p.Arg767His) c.2246G>A (p.Arg749His) c.2219G>A (p.Arg740His) c.2204G>A (p.Arg735His) c.1811G>A (p.Arg604His) c.2273G>A (p.Arg758His) c.2210G>A (p.Arg737His) c.2207G>A (p.Arg736His) c.2165G>A (p.Arg722His) c.1238G>A (p.Arg413His) | gnomAD v4 COSMIC |
20 | g.63407042G>A | CA409638424 | KCNQ2 | c.2275C>T (p.Arg759Cys) c.2221C>T (p.Arg741Cys) c.1618C>T (p.Arg540Cys) c.2128C>T (p.Arg710Cys) c.1789C>T (p.Arg597Cys) c.2137C>T (p.Arg713Cys) c.2241+4C>T (n.2241+4C>T) c.2205+4C>T (n.2205+4C>T) c.2167C>T (p.Arg723Cys) c.2133+4C>T (n.2133+4C>T) c.1680-6199C>T (n.1680-6199C>T) c.2263C>T (p.Arg755Cys) c.2329C>T (p.Arg777Cys) c.2326C>T (p.Arg776Cys) c.2299C>T (p.Arg767Cys) c.2245C>T (p.Arg749Cys) c.2218C>T (p.Arg740Cys) c.2203C>T (p.Arg735Cys) c.1810C>T (p.Arg604Cys) c.2272C>T (p.Arg758Cys) c.2209C>T (p.Arg737Cys) c.2206C>T (p.Arg736Cys) c.2164C>T (p.Arg722Cys) c.1237C>T (p.Arg413Cys) | ClinVar dbSNP gnomAD v4 |
20 | g.63407042G>C | CA409638428 | KCNQ2 | c.2275C>G (p.Arg759Gly) c.2221C>G (p.Arg741Gly) c.1618C>G (p.Arg540Gly) c.2128C>G (p.Arg710Gly) c.1789C>G (p.Arg597Gly) c.2137C>G (p.Arg713Gly) c.2241+4C>G (n.2241+4C>G) c.2205+4C>G (n.2205+4C>G) c.2167C>G (p.Arg723Gly) c.2133+4C>G (n.2133+4C>G) c.1680-6199C>G (n.1680-6199C>G) c.2263C>G (p.Arg755Gly) c.2329C>G (p.Arg777Gly) c.2326C>G (p.Arg776Gly) c.2299C>G (p.Arg767Gly) c.2245C>G (p.Arg749Gly) c.2218C>G (p.Arg740Gly) c.2203C>G (p.Arg735Gly) c.1810C>G (p.Arg604Gly) c.2272C>G (p.Arg758Gly) c.2209C>G (p.Arg737Gly) c.2206C>G (p.Arg736Gly) c.2164C>G (p.Arg722Gly) c.1237C>G (p.Arg413Gly) | gnomAD v4 |
20 | g.63407042G= | CA2374774386 | KCNQ2 | c.2275C= (p.Arg759=) c.2221C= (p.Arg741=) c.1618C= (p.Arg540=) c.2128C= (p.Arg710=) c.1789C= (p.Arg597=) c.2137C= (p.Arg713=) c.2241+4C= (n.2241+4C=) c.2205+4C= (n.2205+4C=) c.2167C= (p.Arg723=) c.2133+4C= (n.2133+4C=) c.1680-6199C= (n.1680-6199C=) c.2263C= (p.Arg755=) c.2329C= (p.Arg777=) c.2326C= (p.Arg776=) c.2299C= (p.Arg767=) c.2245C= (p.Arg749=) c.2218C= (p.Arg740=) c.2203C= (p.Arg735=) c.1810C= (p.Arg604=) c.2272C= (p.Arg758=) c.2209C= (p.Arg737=) c.2206C= (p.Arg736=) c.2164C= (p.Arg722=) c.1237C= (p.Arg413=) | |
20 | g.63407042G>T | CA409638426 | KCNQ2 | c.2275C>A (p.Arg759Ser) c.2221C>A (p.Arg741Ser) c.1618C>A (p.Arg540Ser) c.2128C>A (p.Arg710Ser) c.1789C>A (p.Arg597Ser) c.2137C>A (p.Arg713Ser) c.2241+4C>A (n.2241+4C>A) c.2205+4C>A (n.2205+4C>A) c.2167C>A (p.Arg723Ser) c.2133+4C>A (n.2133+4C>A) c.1680-6199C>A (n.1680-6199C>A) c.2263C>A (p.Arg755Ser) c.2329C>A (p.Arg777Ser) c.2326C>A (p.Arg776Ser) c.2299C>A (p.Arg767Ser) c.2245C>A (p.Arg749Ser) c.2218C>A (p.Arg740Ser) c.2203C>A (p.Arg735Ser) c.1810C>A (p.Arg604Ser) c.2272C>A (p.Arg758Ser) c.2209C>A (p.Arg737Ser) c.2206C>A (p.Arg736Ser) c.2164C>A (p.Arg722Ser) c.1237C>A (p.Arg413Ser) | gnomAD v4 |
20 | g.63407043C>A | CA511339471 | KCNQ2 | c.2274G>T (p.Val758=) c.2220G>T (p.Val740=) c.1617G>T (p.Val539=) c.2127G>T (p.Val709=) c.1788G>T (p.Val596=) c.2136G>T (p.Val712=) c.2241+3G>T (n.2241+3G>T) c.2205+3G>T (n.2205+3G>T) c.2166G>T (p.Val722=) c.2133+3G>T (n.2133+3G>T) c.1680-6200G>T (n.1680-6200G>T) c.2262G>T (p.Val754=) c.2328G>T (p.Val776=) c.2325G>T (p.Val775=) c.2298G>T (p.Val766=) c.2244G>T (p.Val748=) c.2217G>T (p.Val739=) c.2202G>T (p.Val734=) c.1809G>T (p.Val603=) c.2271G>T (p.Val757=) c.2208G>T (p.Val736=) c.2205G>T (p.Val735=) c.2163G>T (p.Val721=) c.1236G>T (p.Val412=) | gnomAD v4 |
20 | g.63407043C>G | CA511339472 | KCNQ2 | c.2274G>C (p.Val758=) c.2220G>C (p.Val740=) c.1617G>C (p.Val539=) c.2127G>C (p.Val709=) c.1788G>C (p.Val596=) c.2136G>C (p.Val712=) c.2241+3G>C (n.2241+3G>C) c.2205+3G>C (n.2205+3G>C) c.2166G>C (p.Val722=) c.2133+3G>C (n.2133+3G>C) c.1680-6200G>C (n.1680-6200G>C) c.2262G>C (p.Val754=) c.2328G>C (p.Val776=) c.2325G>C (p.Val775=) c.2298G>C (p.Val766=) c.2244G>C (p.Val748=) c.2217G>C (p.Val739=) c.2202G>C (p.Val734=) c.1809G>C (p.Val603=) c.2271G>C (p.Val757=) c.2208G>C (p.Val736=) c.2205G>C (p.Val735=) c.2163G>C (p.Val721=) c.1236G>C (p.Val412=) | |
20 | g.63407043C>T | CA511339470 | KCNQ2 | c.2274G>A (p.Val758=) c.2220G>A (p.Val740=) c.1617G>A (p.Val539=) c.2127G>A (p.Val709=) c.1788G>A (p.Val596=) c.2136G>A (p.Val712=) c.2241+3G>A (n.2241+3G>A) c.2205+3G>A (n.2205+3G>A) c.2166G>A (p.Val722=) c.2133+3G>A (n.2133+3G>A) c.1680-6200G>A (n.1680-6200G>A) c.2262G>A (p.Val754=) c.2328G>A (p.Val776=) c.2325G>A (p.Val775=) c.2298G>A (p.Val766=) c.2244G>A (p.Val748=) c.2217G>A (p.Val739=) c.2202G>A (p.Val734=) c.1809G>A (p.Val603=) c.2271G>A (p.Val757=) c.2208G>A (p.Val736=) c.2205G>A (p.Val735=) c.2163G>A (p.Val721=) c.1236G>A (p.Val412=) | gnomAD v4 |
20 | g.63407044A= | CA2374774387 | KCNQ2 | c.2273T= (p.Val758=) c.2219T= (p.Val740=) c.1616T= (p.Val539=) c.2126T= (p.Val709=) c.1787T= (p.Val596=) c.2135T= (p.Val712=) c.2241+2T= (n.2241+2T=) c.2205+2T= (n.2205+2T=) c.2165T= (p.Val722=) c.2133+2T= (n.2133+2T=) c.1680-6201T= (n.1680-6201T=) c.2261T= (p.Val754=) c.2327T= (p.Val776=) c.2324T= (p.Val775=) c.2297T= (p.Val766=) c.2243T= (p.Val748=) c.2216T= (p.Val739=) c.2201T= (p.Val734=) c.1808T= (p.Val603=) c.2270T= (p.Val757=) c.2207T= (p.Val736=) c.2204T= (p.Val735=) c.2162T= (p.Val721=) c.1235T= (p.Val412=) | |
20 | g.63407044A>C | CA409638434 | KCNQ2 | c.2273T>G (p.Val758Gly) c.2219T>G (p.Val740Gly) c.1616T>G (p.Val539Gly) c.2126T>G (p.Val709Gly) c.1787T>G (p.Val596Gly) c.2135T>G (p.Val712Gly) c.2241+2T>G (n.2241+2T>G) c.2205+2T>G (n.2205+2T>G) c.2165T>G (p.Val722Gly) c.2133+2T>G (n.2133+2T>G) c.1680-6201T>G (n.1680-6201T>G) c.2261T>G (p.Val754Gly) c.2327T>G (p.Val776Gly) c.2324T>G (p.Val775Gly) c.2297T>G (p.Val766Gly) c.2243T>G (p.Val748Gly) c.2216T>G (p.Val739Gly) c.2201T>G (p.Val734Gly) c.1808T>G (p.Val603Gly) c.2270T>G (p.Val757Gly) c.2207T>G (p.Val736Gly) c.2204T>G (p.Val735Gly) c.2162T>G (p.Val721Gly) c.1235T>G (p.Val412Gly) | |
20 | g.63407044A>G | CA16620961 | KCNQ2 | c.2273T>C (p.Val758Ala) c.2219T>C (p.Val740Ala) c.1616T>C (p.Val539Ala) c.2126T>C (p.Val709Ala) c.1787T>C (p.Val596Ala) c.2135T>C (p.Val712Ala) c.2241+2T>C (n.2241+2T>C) c.2205+2T>C (n.2205+2T>C) c.2165T>C (p.Val722Ala) c.2133+2T>C (n.2133+2T>C) c.1680-6201T>C (n.1680-6201T>C) c.2261T>C (p.Val754Ala) c.2327T>C (p.Val776Ala) c.2324T>C (p.Val775Ala) c.2297T>C (p.Val766Ala) c.2243T>C (p.Val748Ala) c.2216T>C (p.Val739Ala) c.2201T>C (p.Val734Ala) c.1808T>C (p.Val603Ala) c.2270T>C (p.Val757Ala) c.2207T>C (p.Val736Ala) c.2204T>C (p.Val735Ala) c.2162T>C (p.Val721Ala) c.1235T>C (p.Val412Ala) | ClinVar dbSNP |
20 | g.63407044A>T | CA409638439 | KCNQ2 | c.2273T>A (p.Val758Glu) c.2219T>A (p.Val740Glu) c.1616T>A (p.Val539Glu) c.2126T>A (p.Val709Glu) c.1787T>A (p.Val596Glu) c.2135T>A (p.Val712Glu) c.2241+2T>A (n.2241+2T>A) c.2205+2T>A (n.2205+2T>A) c.2165T>A (p.Val722Glu) c.2133+2T>A (n.2133+2T>A) c.1680-6201T>A (n.1680-6201T>A) c.2261T>A (p.Val754Glu) c.2327T>A (p.Val776Glu) c.2324T>A (p.Val775Glu) c.2297T>A (p.Val766Glu) c.2243T>A (p.Val748Glu) c.2216T>A (p.Val739Glu) c.2201T>A (p.Val734Glu) c.1808T>A (p.Val603Glu) c.2270T>A (p.Val757Glu) c.2207T>A (p.Val736Glu) c.2204T>A (p.Val735Glu) c.2162T>A (p.Val721Glu) c.1235T>A (p.Val412Glu) | gnomAD v4 |
20 | g.63407045C>A | CA409638443 | KCNQ2 | c.2272G>T (p.Val758Leu) c.2218G>T (p.Val740Leu) c.1615G>T (p.Val539Leu) c.2125G>T (p.Val709Leu) c.1786G>T (p.Val596Leu) c.2134G>T (p.Val712Leu) c.2241+1G>T (n.2241+1G>T) c.2205+1G>T (n.2205+1G>T) c.2164G>T (p.Val722Leu) c.2133+1G>T (n.2133+1G>T) c.1680-6202G>T (n.1680-6202G>T) c.2260G>T (p.Val754Leu) c.2326G>T (p.Val776Leu) c.2323G>T (p.Val775Leu) c.2296G>T (p.Val766Leu) c.2242G>T (p.Val748Leu) c.2215G>T (p.Val739Leu) c.2200G>T (p.Val734Leu) c.1807G>T (p.Val603Leu) c.2269G>T (p.Val757Leu) c.2206G>T (p.Val736Leu) c.2203G>T (p.Val735Leu) c.2161G>T (p.Val721Leu) c.1234G>T (p.Val412Leu) | gnomAD v4 |
20 | g.63407045C= | CA2374774388 | KCNQ2 | c.2272G= (p.Val758=) c.2218G= (p.Val740=) c.1615G= (p.Val539=) c.2125G= (p.Val709=) c.1786G= (p.Val596=) c.2134G= (p.Val712=) c.2241+1G= (n.2241+1G=) c.2205+1G= (n.2205+1G=) c.2164G= (p.Val722=) c.2133+1G= (n.2133+1G=) c.1680-6202G= (n.1680-6202G=) c.2260G= (p.Val754=) c.2326G= (p.Val776=) c.2323G= (p.Val775=) c.2296G= (p.Val766=) c.2242G= (p.Val748=) c.2215G= (p.Val739=) c.2200G= (p.Val734=) c.1807G= (p.Val603=) c.2269G= (p.Val757=) c.2206G= (p.Val736=) c.2203G= (p.Val735=) c.2161G= (p.Val721=) c.1234G= (p.Val412=) | |
20 | g.63407045C>G | CA409638446 | KCNQ2 | c.2272G>C (p.Val758Leu) c.2218G>C (p.Val740Leu) c.1615G>C (p.Val539Leu) c.2125G>C (p.Val709Leu) c.1786G>C (p.Val596Leu) c.2134G>C (p.Val712Leu) c.2241+1G>C (n.2241+1G>C) c.2205+1G>C (n.2205+1G>C) c.2164G>C (p.Val722Leu) c.2133+1G>C (n.2133+1G>C) c.1680-6202G>C (n.1680-6202G>C) c.2260G>C (p.Val754Leu) c.2326G>C (p.Val776Leu) c.2323G>C (p.Val775Leu) c.2296G>C (p.Val766Leu) c.2242G>C (p.Val748Leu) c.2215G>C (p.Val739Leu) c.2200G>C (p.Val734Leu) c.1807G>C (p.Val603Leu) c.2269G>C (p.Val757Leu) c.2206G>C (p.Val736Leu) c.2203G>C (p.Val735Leu) c.2161G>C (p.Val721Leu) c.1234G>C (p.Val412Leu) | |
20 | g.63407045C>T | CA9958122 | KCNQ2 | c.2272G>A (p.Val758Met) c.2218G>A (p.Val740Met) c.1615G>A (p.Val539Met) c.2125G>A (p.Val709Met) c.1786G>A (p.Val596Met) c.2134G>A (p.Val712Met) c.2241+1G>A (n.2241+1G>A) c.2205+1G>A (n.2205+1G>A) c.2164G>A (p.Val722Met) c.2133+1G>A (n.2133+1G>A) c.1680-6202G>A (n.1680-6202G>A) c.2260G>A (p.Val754Met) c.2326G>A (p.Val776Met) c.2323G>A (p.Val775Met) c.2296G>A (p.Val766Met) c.2242G>A (p.Val748Met) c.2215G>A (p.Val739Met) c.2200G>A (p.Val734Met) c.1807G>A (p.Val603Met) c.2269G>A (p.Val757Met) c.2206G>A (p.Val736Met) c.2203G>A (p.Val735Met) c.2161G>A (p.Val721Met) c.1234G>A (p.Val412Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63407046C>A | CA511339473 | KCNQ2 | c.2271G>T (p.Leu757=) c.2217G>T (p.Leu739=) c.1614G>T (p.Leu538=) c.2124G>T (p.Leu708=) c.1785G>T (p.Leu595=) c.2133G>T (p.Leu711=) c.2241G>T (p.Leu747=) c.2205G>T (p.Leu735=) c.2163G>T (p.Leu721=) c.1680-6203G>T (n.1680-6203G>T) c.2259G>T (p.Leu753=) c.2325G>T (p.Leu775=) c.2322G>T (p.Leu774=) c.2295G>T (p.Leu765=) c.2214G>T (p.Leu738=) c.2199G>T (p.Leu733=) c.1806G>T (p.Leu602=) c.2268G>T (p.Leu756=) c.2202G>T (p.Leu734=) c.2160G>T (p.Leu720=) c.1233G>T (p.Leu411=) | gnomAD v4 |
20 | g.63407046C= | CA2374774389 | KCNQ2 | c.2271G= (p.Leu757=) c.2217G= (p.Leu739=) c.1614G= (p.Leu538=) c.2124G= (p.Leu708=) c.1785G= (p.Leu595=) c.2133G= (p.Leu711=) c.2241G= (p.Leu747=) c.2205G= (p.Leu735=) c.2163G= (p.Leu721=) c.1680-6203G= (n.1680-6203G=) c.2259G= (p.Leu753=) c.2325G= (p.Leu775=) c.2322G= (p.Leu774=) c.2295G= (p.Leu765=) c.2214G= (p.Leu738=) c.2199G= (p.Leu733=) c.1806G= (p.Leu602=) c.2268G= (p.Leu756=) c.2202G= (p.Leu734=) c.2160G= (p.Leu720=) c.1233G= (p.Leu411=) | |
20 | g.63407046C>G | CA511339474 | KCNQ2 | c.2271G>C (p.Leu757=) c.2217G>C (p.Leu739=) c.1614G>C (p.Leu538=) c.2124G>C (p.Leu708=) c.1785G>C (p.Leu595=) c.2133G>C (p.Leu711=) c.2241G>C (p.Leu747=) c.2205G>C (p.Leu735=) c.2163G>C (p.Leu721=) c.1680-6203G>C (n.1680-6203G>C) c.2259G>C (p.Leu753=) c.2325G>C (p.Leu775=) c.2322G>C (p.Leu774=) c.2295G>C (p.Leu765=) c.2214G>C (p.Leu738=) c.2199G>C (p.Leu733=) c.1806G>C (p.Leu602=) c.2268G>C (p.Leu756=) c.2202G>C (p.Leu734=) c.2160G>C (p.Leu720=) c.1233G>C (p.Leu411=) | ClinVar dbSNP gnomAD v4 |
20 | g.63407046C>T | CA511339475 | KCNQ2 | c.2271G>A (p.Leu757=) c.2217G>A (p.Leu739=) c.1614G>A (p.Leu538=) c.2124G>A (p.Leu708=) c.1785G>A (p.Leu595=) c.2133G>A (p.Leu711=) c.2241G>A (p.Leu747=) c.2205G>A (p.Leu735=) c.2163G>A (p.Leu721=) c.1680-6203G>A (n.1680-6203G>A) c.2259G>A (p.Leu753=) c.2325G>A (p.Leu775=) c.2322G>A (p.Leu774=) c.2295G>A (p.Leu765=) c.2214G>A (p.Leu738=) c.2199G>A (p.Leu733=) c.1806G>A (p.Leu602=) c.2268G>A (p.Leu756=) c.2202G>A (p.Leu734=) c.2160G>A (p.Leu720=) c.1233G>A (p.Leu411=) | |
20 | g.63407047A= | CA2374774390 | KCNQ2 | c.2270T= (p.Leu757=) c.2216T= (p.Leu739=) c.1613T= (p.Leu538=) c.2123T= (p.Leu708=) c.1784T= (p.Leu595=) c.2132T= (p.Leu711=) c.2240T= (p.Leu747=) c.2204T= (p.Leu735=) c.2162T= (p.Leu721=) c.1680-6204T= (n.1680-6204T=) c.2258T= (p.Leu753=) c.2324T= (p.Leu775=) c.2321T= (p.Leu774=) c.2294T= (p.Leu765=) c.2213T= (p.Leu738=) c.2198T= (p.Leu733=) c.1805T= (p.Leu602=) c.2267T= (p.Leu756=) c.2201T= (p.Leu734=) c.2159T= (p.Leu720=) c.1232T= (p.Leu411=) | |
20 | g.63407047A>C | CA409638452 | KCNQ2 | c.2270T>G (p.Leu757Arg) c.2216T>G (p.Leu739Arg) c.1613T>G (p.Leu538Arg) c.2123T>G (p.Leu708Arg) c.1784T>G (p.Leu595Arg) c.2132T>G (p.Leu711Arg) c.2240T>G (p.Leu747Arg) c.2204T>G (p.Leu735Arg) c.2162T>G (p.Leu721Arg) c.1680-6204T>G (n.1680-6204T>G) c.2258T>G (p.Leu753Arg) c.2324T>G (p.Leu775Arg) c.2321T>G (p.Leu774Arg) c.2294T>G (p.Leu765Arg) c.2213T>G (p.Leu738Arg) c.2198T>G (p.Leu733Arg) c.1805T>G (p.Leu602Arg) c.2267T>G (p.Leu756Arg) c.2201T>G (p.Leu734Arg) c.2159T>G (p.Leu720Arg) c.1232T>G (p.Leu411Arg) | |
20 | g.63407047A>G | CA409638454 | KCNQ2 | c.2270T>C (p.Leu757Pro) c.2216T>C (p.Leu739Pro) c.1613T>C (p.Leu538Pro) c.2123T>C (p.Leu708Pro) c.1784T>C (p.Leu595Pro) c.2132T>C (p.Leu711Pro) c.2240T>C (p.Leu747Pro) c.2204T>C (p.Leu735Pro) c.2162T>C (p.Leu721Pro) c.1680-6204T>C (n.1680-6204T>C) c.2258T>C (p.Leu753Pro) c.2324T>C (p.Leu775Pro) c.2321T>C (p.Leu774Pro) c.2294T>C (p.Leu765Pro) c.2213T>C (p.Leu738Pro) c.2198T>C (p.Leu733Pro) c.1805T>C (p.Leu602Pro) c.2267T>C (p.Leu756Pro) c.2201T>C (p.Leu734Pro) c.2159T>C (p.Leu720Pro) c.1232T>C (p.Leu411Pro) | gnomAD v4 |
20 | g.63407047A>T | CA409638457 | KCNQ2 | c.2270T>A (p.Leu757Gln) c.2216T>A (p.Leu739Gln) c.1613T>A (p.Leu538Gln) c.2123T>A (p.Leu708Gln) c.1784T>A (p.Leu595Gln) c.2132T>A (p.Leu711Gln) c.2240T>A (p.Leu747Gln) c.2204T>A (p.Leu735Gln) c.2162T>A (p.Leu721Gln) c.1680-6204T>A (n.1680-6204T>A) c.2258T>A (p.Leu753Gln) c.2324T>A (p.Leu775Gln) c.2321T>A (p.Leu774Gln) c.2294T>A (p.Leu765Gln) c.2213T>A (p.Leu738Gln) c.2198T>A (p.Leu733Gln) c.1805T>A (p.Leu602Gln) c.2267T>A (p.Leu756Gln) c.2201T>A (p.Leu734Gln) c.2159T>A (p.Leu720Gln) c.1232T>A (p.Leu411Gln) | ClinVar dbSNP gnomAD v4 |
20 | g.63407048G>A | CA511339476 | KCNQ2 | c.2269C>T (p.Leu757=) c.2215C>T (p.Leu739=) c.1612C>T (p.Leu538=) c.2122C>T (p.Leu708=) c.1783C>T (p.Leu595=) c.2131C>T (p.Leu711=) c.2239C>T (p.Leu747=) c.2203C>T (p.Leu735=) c.2161C>T (p.Leu721=) c.1680-6205C>T (n.1680-6205C>T) c.2257C>T (p.Leu753=) c.2323C>T (p.Leu775=) c.2320C>T (p.Leu774=) c.2293C>T (p.Leu765=) c.2212C>T (p.Leu738=) c.2197C>T (p.Leu733=) c.1804C>T (p.Leu602=) c.2266C>T (p.Leu756=) c.2200C>T (p.Leu734=) c.2158C>T (p.Leu720=) c.1231C>T (p.Leu411=) | gnomAD v4 |
20 | g.63407048G>C | CA409638459 | KCNQ2 | c.2269C>G (p.Leu757Val) c.2215C>G (p.Leu739Val) c.1612C>G (p.Leu538Val) c.2122C>G (p.Leu708Val) c.1783C>G (p.Leu595Val) c.2131C>G (p.Leu711Val) c.2239C>G (p.Leu747Val) c.2203C>G (p.Leu735Val) c.2161C>G (p.Leu721Val) c.1680-6205C>G (n.1680-6205C>G) c.2257C>G (p.Leu753Val) c.2323C>G (p.Leu775Val) c.2320C>G (p.Leu774Val) c.2293C>G (p.Leu765Val) c.2212C>G (p.Leu738Val) c.2197C>G (p.Leu733Val) c.1804C>G (p.Leu602Val) c.2266C>G (p.Leu756Val) c.2200C>G (p.Leu734Val) c.2158C>G (p.Leu720Val) c.1231C>G (p.Leu411Val) | gnomAD v4 |
20 | g.63407048G>T | CA409638462 | KCNQ2 | c.2269C>A (p.Leu757Met) c.2215C>A (p.Leu739Met) c.1612C>A (p.Leu538Met) c.2122C>A (p.Leu708Met) c.1783C>A (p.Leu595Met) c.2131C>A (p.Leu711Met) c.2239C>A (p.Leu747Met) c.2203C>A (p.Leu735Met) c.2161C>A (p.Leu721Met) c.1680-6205C>A (n.1680-6205C>A) c.2257C>A (p.Leu753Met) c.2323C>A (p.Leu775Met) c.2320C>A (p.Leu774Met) c.2293C>A (p.Leu765Met) c.2212C>A (p.Leu738Met) c.2197C>A (p.Leu733Met) c.1804C>A (p.Leu602Met) c.2266C>A (p.Leu756Met) c.2200C>A (p.Leu734Met) c.2158C>A (p.Leu720Met) c.1231C>A (p.Leu411Met) | |
20 | g.63407050del | CA2653805402 | KCNQ2 | c.2269del (p.Leu757TrpfsTer?) c.2215del (p.Leu739TrpfsTer?) c.1612del (p.Leu538TrpfsTer?) c.2122del (p.Leu708TrpfsTer?) c.1783del (p.Leu595TrpfsTer?) c.2131del (p.Leu711TrpfsTer?) c.2239del (p.Leu747TrpfsTer?) c.2203del (p.Leu735TrpfsTer?) c.2161del (p.Leu721TrpfsTer?) c.1680-6205del (n.1680-6205del) c.2257del (p.Leu753TrpfsTer?) c.2323del (p.Leu775TrpfsTer?) c.2320del (p.Leu774TrpfsTer?) c.2293del (p.Leu765TrpfsTer?) c.2212del (p.Leu738TrpfsTer?) c.2197del (p.Leu733TrpfsTer?) c.1804del (p.Leu602TrpfsTer?) c.2266del (p.Leu756TrpfsTer?) c.2200del (p.Leu734TrpfsTer?) c.2158del (p.Leu720TrpfsTer?) c.1231del (p.Leu411TrpfsTer?) | gnomAD v4 |
20 | g.63407049G>A | CA511339477 | KCNQ2 | c.2268C>T (p.Ser756=) c.2214C>T (p.Ser738=) c.1611C>T (p.Ser537=) c.2121C>T (p.Ser707=) c.1782C>T (p.Ser594=) c.2130C>T (p.Ser710=) c.2238C>T (p.Ser746=) c.2202C>T (p.Ser734=) c.2160C>T (p.Ser720=) c.1680-6206C>T (n.1680-6206C>T) c.2256C>T (p.Ser752=) c.2322C>T (p.Ser774=) c.2319C>T (p.Ser773=) c.2292C>T (p.Ser764=) c.2211C>T (p.Ser737=) c.2196C>T (p.Ser732=) c.1803C>T (p.Ser601=) c.2265C>T (p.Ser755=) c.2199C>T (p.Ser733=) c.2157C>T (p.Ser719=) c.1230C>T (p.Ser410=) | gnomAD v4 |
20 | g.63407049G>C | CA511339478 | KCNQ2 | c.2268C>G (p.Ser756=) c.2214C>G (p.Ser738=) c.1611C>G (p.Ser537=) c.2121C>G (p.Ser707=) c.1782C>G (p.Ser594=) c.2130C>G (p.Ser710=) c.2238C>G (p.Ser746=) c.2202C>G (p.Ser734=) c.2160C>G (p.Ser720=) c.1680-6206C>G (n.1680-6206C>G) c.2256C>G (p.Ser752=) c.2322C>G (p.Ser774=) c.2319C>G (p.Ser773=) c.2292C>G (p.Ser764=) c.2211C>G (p.Ser737=) c.2196C>G (p.Ser732=) c.1803C>G (p.Ser601=) c.2265C>G (p.Ser755=) c.2199C>G (p.Ser733=) c.2157C>G (p.Ser719=) c.1230C>G (p.Ser410=) | |
20 | g.63407049G>T | CA511339479 | KCNQ2 | c.2268C>A (p.Ser756=) c.2214C>A (p.Ser738=) c.1611C>A (p.Ser537=) c.2121C>A (p.Ser707=) c.1782C>A (p.Ser594=) c.2130C>A (p.Ser710=) c.2238C>A (p.Ser746=) c.2202C>A (p.Ser734=) c.2160C>A (p.Ser720=) c.1680-6206C>A (n.1680-6206C>A) c.2256C>A (p.Ser752=) c.2322C>A (p.Ser774=) c.2319C>A (p.Ser773=) c.2292C>A (p.Ser764=) c.2211C>A (p.Ser737=) c.2196C>A (p.Ser732=) c.1803C>A (p.Ser601=) c.2265C>A (p.Ser755=) c.2199C>A (p.Ser733=) c.2157C>A (p.Ser719=) c.1230C>A (p.Ser410=) | gnomAD v4 |
20 | g.63407050G>A | CA409638471 | KCNQ2 | c.2267C>T (p.Ser756Phe) c.2213C>T (p.Ser738Phe) c.1610C>T (p.Ser537Phe) c.2120C>T (p.Ser707Phe) c.1781C>T (p.Ser594Phe) c.2129C>T (p.Ser710Phe) c.2237C>T (p.Ser746Phe) c.2201C>T (p.Ser734Phe) c.2159C>T (p.Ser720Phe) c.1680-6207C>T (n.1680-6207C>T) c.2255C>T (p.Ser752Phe) c.2321C>T (p.Ser774Phe) c.2318C>T (p.Ser773Phe) c.2291C>T (p.Ser764Phe) c.2210C>T (p.Ser737Phe) c.2195C>T (p.Ser732Phe) c.1802C>T (p.Ser601Phe) c.2264C>T (p.Ser755Phe) c.2198C>T (p.Ser733Phe) c.2156C>T (p.Ser719Phe) c.1229C>T (p.Ser410Phe) | dbSNP |
20 | g.63407050G>C | CA409638468 | KCNQ2 | c.2267C>G (p.Ser756Cys) c.2213C>G (p.Ser738Cys) c.1610C>G (p.Ser537Cys) c.2120C>G (p.Ser707Cys) c.1781C>G (p.Ser594Cys) c.2129C>G (p.Ser710Cys) c.2237C>G (p.Ser746Cys) c.2201C>G (p.Ser734Cys) c.2159C>G (p.Ser720Cys) c.1680-6207C>G (n.1680-6207C>G) c.2255C>G (p.Ser752Cys) c.2321C>G (p.Ser774Cys) c.2318C>G (p.Ser773Cys) c.2291C>G (p.Ser764Cys) c.2210C>G (p.Ser737Cys) c.2195C>G (p.Ser732Cys) c.1802C>G (p.Ser601Cys) c.2264C>G (p.Ser755Cys) c.2198C>G (p.Ser733Cys) c.2156C>G (p.Ser719Cys) c.1229C>G (p.Ser410Cys) | |
20 | g.63407050G= | CA2374774391 | KCNQ2 | c.2267C= (p.Ser756=) c.2213C= (p.Ser738=) c.1610C= (p.Ser537=) c.2120C= (p.Ser707=) c.1781C= (p.Ser594=) c.2129C= (p.Ser710=) c.2237C= (p.Ser746=) c.2201C= (p.Ser734=) c.2159C= (p.Ser720=) c.1680-6207C= (n.1680-6207C=) c.2255C= (p.Ser752=) c.2321C= (p.Ser774=) c.2318C= (p.Ser773=) c.2291C= (p.Ser764=) c.2210C= (p.Ser737=) c.2195C= (p.Ser732=) c.1802C= (p.Ser601=) c.2264C= (p.Ser755=) c.2198C= (p.Ser733=) c.2156C= (p.Ser719=) c.1229C= (p.Ser410=) | |
20 | g.63407050G>T | CA409638465 | KCNQ2 | c.2267C>A (p.Ser756Tyr) c.2213C>A (p.Ser738Tyr) c.1610C>A (p.Ser537Tyr) c.2120C>A (p.Ser707Tyr) c.1781C>A (p.Ser594Tyr) c.2129C>A (p.Ser710Tyr) c.2237C>A (p.Ser746Tyr) c.2201C>A (p.Ser734Tyr) c.2159C>A (p.Ser720Tyr) c.1680-6207C>A (n.1680-6207C>A) c.2255C>A (p.Ser752Tyr) c.2321C>A (p.Ser774Tyr) c.2318C>A (p.Ser773Tyr) c.2291C>A (p.Ser764Tyr) c.2210C>A (p.Ser737Tyr) c.2195C>A (p.Ser732Tyr) c.1802C>A (p.Ser601Tyr) c.2264C>A (p.Ser755Tyr) c.2198C>A (p.Ser733Tyr) c.2156C>A (p.Ser719Tyr) c.1229C>A (p.Ser410Tyr) | gnomAD v4 |
20 | g.63407050_63407051insT | CA317422106 | KCNQ2 | c.2266_2267insA (p.Ser756TyrfsTer?) c.2212_2213insA (p.Ser738TyrfsTer?) c.1609_1610insA (p.Ser537TyrfsTer?) c.2119_2120insA (p.Ser707TyrfsTer?) c.1780_1781insA (p.Ser594TyrfsTer?) c.2128_2129insA (p.Ser710TyrfsTer?) c.2236_2237insA (p.Ser746TyrfsTer?) c.2200_2201insA (p.Ser734TyrfsTer?) c.2158_2159insA (p.Ser720TyrfsTer?) c.1680-6208_1680-6207insA (n.1680-6208_1680-6207insA) c.2254_2255insA (p.Ser752TyrfsTer?) c.2320_2321insA (p.Ser774TyrfsTer?) c.2317_2318insA (p.Ser773TyrfsTer?) c.2290_2291insA (p.Ser764TyrfsTer?) c.2209_2210insA (p.Ser737TyrfsTer?) c.2194_2195insA (p.Ser732TyrfsTer?) c.1801_1802insA (p.Ser601TyrfsTer?) c.2263_2264insA (p.Ser755TyrfsTer?) c.2197_2198insA (p.Ser733TyrfsTer?) c.2155_2156insA (p.Ser719TyrfsTer?) c.1228_1229insA (p.Ser410TyrfsTer?) | dbSNP |
20 | g.63407051A>C | CA409638475 | KCNQ2 | c.2266T>G (p.Ser756Ala) c.2212T>G (p.Ser738Ala) c.1609T>G (p.Ser537Ala) c.2119T>G (p.Ser707Ala) c.1780T>G (p.Ser594Ala) c.2128T>G (p.Ser710Ala) c.2236T>G (p.Ser746Ala) c.2200T>G (p.Ser734Ala) c.2158T>G (p.Ser720Ala) c.1680-6208T>G (n.1680-6208T>G) c.2254T>G (p.Ser752Ala) c.2320T>G (p.Ser774Ala) c.2317T>G (p.Ser773Ala) c.2290T>G (p.Ser764Ala) c.2209T>G (p.Ser737Ala) c.2194T>G (p.Ser732Ala) c.1801T>G (p.Ser601Ala) c.2263T>G (p.Ser755Ala) c.2197T>G (p.Ser733Ala) c.2155T>G (p.Ser719Ala) c.1228T>G (p.Ser410Ala) | |
20 | g.63407051A>G | CA409638483 | KCNQ2 | c.2266T>C (p.Ser756Pro) c.2212T>C (p.Ser738Pro) c.1609T>C (p.Ser537Pro) c.2119T>C (p.Ser707Pro) c.1780T>C (p.Ser594Pro) c.2128T>C (p.Ser710Pro) c.2236T>C (p.Ser746Pro) c.2200T>C (p.Ser734Pro) c.2158T>C (p.Ser720Pro) c.1680-6208T>C (n.1680-6208T>C) c.2254T>C (p.Ser752Pro) c.2320T>C (p.Ser774Pro) c.2317T>C (p.Ser773Pro) c.2290T>C (p.Ser764Pro) c.2209T>C (p.Ser737Pro) c.2194T>C (p.Ser732Pro) c.1801T>C (p.Ser601Pro) c.2263T>C (p.Ser755Pro) c.2197T>C (p.Ser733Pro) c.2155T>C (p.Ser719Pro) c.1228T>C (p.Ser410Pro) | gnomAD v4 |
20 | g.63407051A>T | CA409638480 | KCNQ2 | c.2266T>A (p.Ser756Thr) c.2212T>A (p.Ser738Thr) c.1609T>A (p.Ser537Thr) c.2119T>A (p.Ser707Thr) c.1780T>A (p.Ser594Thr) c.2128T>A (p.Ser710Thr) c.2236T>A (p.Ser746Thr) c.2200T>A (p.Ser734Thr) c.2158T>A (p.Ser720Thr) c.1680-6208T>A (n.1680-6208T>A) c.2254T>A (p.Ser752Thr) c.2320T>A (p.Ser774Thr) c.2317T>A (p.Ser773Thr) c.2290T>A (p.Ser764Thr) c.2209T>A (p.Ser737Thr) c.2194T>A (p.Ser732Thr) c.1801T>A (p.Ser601Thr) c.2263T>A (p.Ser755Thr) c.2197T>A (p.Ser733Thr) c.2155T>A (p.Ser719Thr) c.1228T>A (p.Ser410Thr) | |
20 | g.63407052G>A | CA511339480 | KCNQ2 | c.2265C>T (p.Gly755=) c.2211C>T (p.Gly737=) c.1608C>T (p.Gly536=) c.2118C>T (p.Gly706=) c.1779C>T (p.Gly593=) c.2127C>T (p.Gly709=) c.2235C>T (p.Gly745=) c.2199C>T (p.Gly733=) c.2157C>T (p.Gly719=) c.1680-6209C>T (n.1680-6209C>T) c.2253C>T (p.Gly751=) c.2319C>T (p.Gly773=) c.2316C>T (p.Gly772=) c.2289C>T (p.Gly763=) c.2208C>T (p.Gly736=) c.2193C>T (p.Gly731=) c.1800C>T (p.Gly600=) c.2262C>T (p.Gly754=) c.2196C>T (p.Gly732=) c.2154C>T (p.Gly718=) c.1227C>T (p.Gly409=) | |
20 | g.63407052G>C | CA511339481 | KCNQ2 | c.2265C>G (p.Gly755=) c.2211C>G (p.Gly737=) c.1608C>G (p.Gly536=) c.2118C>G (p.Gly706=) c.1779C>G (p.Gly593=) c.2127C>G (p.Gly709=) c.2235C>G (p.Gly745=) c.2199C>G (p.Gly733=) c.2157C>G (p.Gly719=) c.1680-6209C>G (n.1680-6209C>G) c.2253C>G (p.Gly751=) c.2319C>G (p.Gly773=) c.2316C>G (p.Gly772=) c.2289C>G (p.Gly763=) c.2208C>G (p.Gly736=) c.2193C>G (p.Gly731=) c.1800C>G (p.Gly600=) c.2262C>G (p.Gly754=) c.2196C>G (p.Gly732=) c.2154C>G (p.Gly718=) c.1227C>G (p.Gly409=) | |
20 | g.63407052G>T | CA511339482 | KCNQ2 | c.2265C>A (p.Gly755=) c.2211C>A (p.Gly737=) c.1608C>A (p.Gly536=) c.2118C>A (p.Gly706=) c.1779C>A (p.Gly593=) c.2127C>A (p.Gly709=) c.2235C>A (p.Gly745=) c.2199C>A (p.Gly733=) c.2157C>A (p.Gly719=) c.1680-6209C>A (n.1680-6209C>A) c.2253C>A (p.Gly751=) c.2319C>A (p.Gly773=) c.2316C>A (p.Gly772=) c.2289C>A (p.Gly763=) c.2208C>A (p.Gly736=) c.2193C>A (p.Gly731=) c.1800C>A (p.Gly600=) c.2262C>A (p.Gly754=) c.2196C>A (p.Gly732=) c.2154C>A (p.Gly718=) c.1227C>A (p.Gly409=) | gnomAD v4 |
20 | g.63407059_63407082dup | CA2653805403 | KCNQ2 | c.2242_2265dup (p.Gly755_Ser756insThrSerProValGlyAspHisGly) c.2188_2211dup (p.Gly737_Ser738insThrSerProValGlyAspHisGly) c.1585_1608dup (p.Gly536_Ser537insThrSerProValGlyAspHisGly) c.2095_2118dup (p.Gly706_Ser707insThrSerProValGlyAspHisGly) c.1756_1779dup (p.Gly593_Ser594insThrSerProValGlyAspHisGly) c.2104_2127dup (p.Gly709_Ser710insThrSerProValGlyAspHisGly) c.2212_2235dup (p.Gly745_Ser746insThrSerProValGlyAspHisGly) c.2176_2199dup (p.Gly733_Ser734insThrSerProValGlyAspHisGly) c.2134_2157dup (p.Gly719_Ser720insThrSerProValGlyAspHisGly) c.1680-6232_1680-6209dup (n.1680-6232_1680-6209dup) c.2230_2253dup (p.Gly751_Ser752insThrSerProValGlyAspHisGly) c.2296_2319dup (p.Gly773_Ser774insThrSerProValGlyAspHisGly) c.2293_2316dup (p.Gly772_Ser773insThrSerProValGlyAspHisGly) c.2266_2289dup (p.Gly763_Ser764insThrSerProValGlyAspHisGly) c.2185_2208dup (p.Gly736_Ser737insThrSerProValGlyAspHisGly) c.2170_2193dup (p.Gly731_Ser732insThrSerProValGlyAspHisGly) c.1777_1800dup (p.Gly600_Ser601insThrSerProValGlyAspHisGly) c.2239_2262dup (p.Gly754_Ser755insThrSerProValGlyAspHisGly) c.2173_2196dup (p.Gly732_Ser733insThrSerProValGlyAspHisGly) c.2131_2154dup (p.Gly718_Ser719insThrSerProValGlyAspHisGly) c.1204_1227dup (p.Gly409_Ser410insThrSerProValGlyAspHisGly) | gnomAD v4 |
20 | g.63407053C>A | CA9958123 | KCNQ2 | c.2264G>T (p.Gly755Val) c.2210G>T (p.Gly737Val) c.1607G>T (p.Gly536Val) c.2117G>T (p.Gly706Val) c.1778G>T (p.Gly593Val) c.2126G>T (p.Gly709Val) c.2234G>T (p.Gly745Val) c.2198G>T (p.Gly733Val) c.2156G>T (p.Gly719Val) c.1680-6210G>T (n.1680-6210G>T) c.2252G>T (p.Gly751Val) c.2318G>T (p.Gly773Val) c.2315G>T (p.Gly772Val) c.2288G>T (p.Gly763Val) c.2207G>T (p.Gly736Val) c.2192G>T (p.Gly731Val) c.1799G>T (p.Gly600Val) c.2261G>T (p.Gly754Val) c.2195G>T (p.Gly732Val) c.2153G>T (p.Gly718Val) c.1226G>T (p.Gly409Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63407053C= | CA2374774392 | KCNQ2 | c.2264G= (p.Gly755=) c.2210G= (p.Gly737=) c.1607G= (p.Gly536=) c.2117G= (p.Gly706=) c.1778G= (p.Gly593=) c.2126G= (p.Gly709=) c.2234G= (p.Gly745=) c.2198G= (p.Gly733=) c.2156G= (p.Gly719=) c.1680-6210G= (n.1680-6210G=) c.2252G= (p.Gly751=) c.2318G= (p.Gly773=) c.2315G= (p.Gly772=) c.2288G= (p.Gly763=) c.2207G= (p.Gly736=) c.2192G= (p.Gly731=) c.1799G= (p.Gly600=) c.2261G= (p.Gly754=) c.2195G= (p.Gly732=) c.2153G= (p.Gly718=) c.1226G= (p.Gly409=) | |
20 | g.63407053C>G | CA409638488 | KCNQ2 | c.2264G>C (p.Gly755Ala) c.2210G>C (p.Gly737Ala) c.1607G>C (p.Gly536Ala) c.2117G>C (p.Gly706Ala) c.1778G>C (p.Gly593Ala) c.2126G>C (p.Gly709Ala) c.2234G>C (p.Gly745Ala) c.2198G>C (p.Gly733Ala) c.2156G>C (p.Gly719Ala) c.1680-6210G>C (n.1680-6210G>C) c.2252G>C (p.Gly751Ala) c.2318G>C (p.Gly773Ala) c.2315G>C (p.Gly772Ala) c.2288G>C (p.Gly763Ala) c.2207G>C (p.Gly736Ala) c.2192G>C (p.Gly731Ala) c.1799G>C (p.Gly600Ala) c.2261G>C (p.Gly754Ala) c.2195G>C (p.Gly732Ala) c.2153G>C (p.Gly718Ala) c.1226G>C (p.Gly409Ala) | |
20 | g.63407053C>T | CA409638492 | KCNQ2 | c.2264G>A (p.Gly755Asp) c.2210G>A (p.Gly737Asp) c.1607G>A (p.Gly536Asp) c.2117G>A (p.Gly706Asp) c.1778G>A (p.Gly593Asp) c.2126G>A (p.Gly709Asp) c.2234G>A (p.Gly745Asp) c.2198G>A (p.Gly733Asp) c.2156G>A (p.Gly719Asp) c.1680-6210G>A (n.1680-6210G>A) c.2252G>A (p.Gly751Asp) c.2318G>A (p.Gly773Asp) c.2315G>A (p.Gly772Asp) c.2288G>A (p.Gly763Asp) c.2207G>A (p.Gly736Asp) c.2192G>A (p.Gly731Asp) c.1799G>A (p.Gly600Asp) c.2261G>A (p.Gly754Asp) c.2195G>A (p.Gly732Asp) c.2153G>A (p.Gly718Asp) c.1226G>A (p.Gly409Asp) | ClinVar dbSNP gnomAD v4 |
20 | g.63407054C>A | CA409638495 | KCNQ2 | c.2263G>T (p.Gly755Cys) c.2209G>T (p.Gly737Cys) c.1606G>T (p.Gly536Cys) c.2116G>T (p.Gly706Cys) c.1777G>T (p.Gly593Cys) c.2125G>T (p.Gly709Cys) c.2233G>T (p.Gly745Cys) c.2197G>T (p.Gly733Cys) c.2155G>T (p.Gly719Cys) c.1680-6211G>T (n.1680-6211G>T) c.2251G>T (p.Gly751Cys) c.2317G>T (p.Gly773Cys) c.2314G>T (p.Gly772Cys) c.2287G>T (p.Gly763Cys) c.2206G>T (p.Gly736Cys) c.2191G>T (p.Gly731Cys) c.1798G>T (p.Gly600Cys) c.2260G>T (p.Gly754Cys) c.2194G>T (p.Gly732Cys) c.2152G>T (p.Gly718Cys) c.1225G>T (p.Gly409Cys) | gnomAD v4 |
20 | g.63407054C= | CA2374774393 | KCNQ2 | c.2263G= (p.Gly755=) c.2209G= (p.Gly737=) c.1606G= (p.Gly536=) c.2116G= (p.Gly706=) c.1777G= (p.Gly593=) c.2125G= (p.Gly709=) c.2233G= (p.Gly745=) c.2197G= (p.Gly733=) c.2155G= (p.Gly719=) c.1680-6211G= (n.1680-6211G=) c.2251G= (p.Gly751=) c.2317G= (p.Gly773=) c.2314G= (p.Gly772=) c.2287G= (p.Gly763=) c.2206G= (p.Gly736=) c.2191G= (p.Gly731=) c.1798G= (p.Gly600=) c.2260G= (p.Gly754=) c.2194G= (p.Gly732=) c.2152G= (p.Gly718=) c.1225G= (p.Gly409=) | |
20 | g.63407054C>G | CA409638498 | KCNQ2 | c.2263G>C (p.Gly755Arg) c.2209G>C (p.Gly737Arg) c.1606G>C (p.Gly536Arg) c.2116G>C (p.Gly706Arg) c.1777G>C (p.Gly593Arg) c.2125G>C (p.Gly709Arg) c.2233G>C (p.Gly745Arg) c.2197G>C (p.Gly733Arg) c.2155G>C (p.Gly719Arg) c.1680-6211G>C (n.1680-6211G>C) c.2251G>C (p.Gly751Arg) c.2317G>C (p.Gly773Arg) c.2314G>C (p.Gly772Arg) c.2287G>C (p.Gly763Arg) c.2206G>C (p.Gly736Arg) c.2191G>C (p.Gly731Arg) c.1798G>C (p.Gly600Arg) c.2260G>C (p.Gly754Arg) c.2194G>C (p.Gly732Arg) c.2152G>C (p.Gly718Arg) c.1225G>C (p.Gly409Arg) | |
20 | g.63407054C>T | CA9958124 | KCNQ2 | c.2263G>A (p.Gly755Ser) c.2209G>A (p.Gly737Ser) c.1606G>A (p.Gly536Ser) c.2116G>A (p.Gly706Ser) c.1777G>A (p.Gly593Ser) c.2125G>A (p.Gly709Ser) c.2233G>A (p.Gly745Ser) c.2197G>A (p.Gly733Ser) c.2155G>A (p.Gly719Ser) c.1680-6211G>A (n.1680-6211G>A) c.2251G>A (p.Gly751Ser) c.2317G>A (p.Gly773Ser) c.2314G>A (p.Gly772Ser) c.2287G>A (p.Gly763Ser) c.2206G>A (p.Gly736Ser) c.2191G>A (p.Gly731Ser) c.1798G>A (p.Gly600Ser) c.2260G>A (p.Gly754Ser) c.2194G>A (p.Gly732Ser) c.2152G>A (p.Gly718Ser) c.1225G>A (p.Gly409Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407055G>A | CA9958125 | KCNQ2 | c.2262C>T (p.His754=) c.2208C>T (p.His736=) c.1605C>T (p.His535=) c.2115C>T (p.His705=) c.1776C>T (p.His592=) c.2124C>T (p.His708=) c.2232C>T (p.His744=) c.2196C>T (p.His732=) c.2154C>T (p.His718=) c.1680-6212C>T (n.1680-6212C>T) c.2250C>T (p.His750=) c.2316C>T (p.His772=) c.2313C>T (p.His771=) c.2286C>T (p.His762=) c.2205C>T (p.His735=) c.2190C>T (p.His730=) c.1797C>T (p.His599=) c.2259C>T (p.His753=) c.2193C>T (p.His731=) c.2151C>T (p.His717=) c.1224C>T (p.His408=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407055G>C | CA409638509 | KCNQ2 | c.2262C>G (p.His754Gln) c.2208C>G (p.His736Gln) c.1605C>G (p.His535Gln) c.2115C>G (p.His705Gln) c.1776C>G (p.His592Gln) c.2124C>G (p.His708Gln) c.2232C>G (p.His744Gln) c.2196C>G (p.His732Gln) c.2154C>G (p.His718Gln) c.1680-6212C>G (n.1680-6212C>G) c.2250C>G (p.His750Gln) c.2316C>G (p.His772Gln) c.2313C>G (p.His771Gln) c.2286C>G (p.His762Gln) c.2205C>G (p.His735Gln) c.2190C>G (p.His730Gln) c.1797C>G (p.His599Gln) c.2259C>G (p.His753Gln) c.2193C>G (p.His731Gln) c.2151C>G (p.His717Gln) c.1224C>G (p.His408Gln) | |
20 | g.63407055G= | CA2374774394 | KCNQ2 | c.2262C= (p.His754=) c.2208C= (p.His736=) c.1605C= (p.His535=) c.2115C= (p.His705=) c.1776C= (p.His592=) c.2124C= (p.His708=) c.2232C= (p.His744=) c.2196C= (p.His732=) c.2154C= (p.His718=) c.1680-6212C= (n.1680-6212C=) c.2250C= (p.His750=) c.2316C= (p.His772=) c.2313C= (p.His771=) c.2286C= (p.His762=) c.2205C= (p.His735=) c.2190C= (p.His730=) c.1797C= (p.His599=) c.2259C= (p.His753=) c.2193C= (p.His731=) c.2151C= (p.His717=) c.1224C= (p.His408=) | |
20 | g.63407055G>T | CA409638512 | KCNQ2 | c.2262C>A (p.His754Gln) c.2208C>A (p.His736Gln) c.1605C>A (p.His535Gln) c.2115C>A (p.His705Gln) c.1776C>A (p.His592Gln) c.2124C>A (p.His708Gln) c.2232C>A (p.His744Gln) c.2196C>A (p.His732Gln) c.2154C>A (p.His718Gln) c.1680-6212C>A (n.1680-6212C>A) c.2250C>A (p.His750Gln) c.2316C>A (p.His772Gln) c.2313C>A (p.His771Gln) c.2286C>A (p.His762Gln) c.2205C>A (p.His735Gln) c.2190C>A (p.His730Gln) c.1797C>A (p.His599Gln) c.2259C>A (p.His753Gln) c.2193C>A (p.His731Gln) c.2151C>A (p.His717Gln) c.1224C>A (p.His408Gln) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407056T>A | CA409638515 | KCNQ2 | c.2261A>T (p.His754Leu) c.2207A>T (p.His736Leu) c.1604A>T (p.His535Leu) c.2114A>T (p.His705Leu) c.1775A>T (p.His592Leu) c.2123A>T (p.His708Leu) c.2231A>T (p.His744Leu) c.2195A>T (p.His732Leu) c.2153A>T (p.His718Leu) c.1680-6213A>T (n.1680-6213A>T) c.2249A>T (p.His750Leu) c.2315A>T (p.His772Leu) c.2312A>T (p.His771Leu) c.2285A>T (p.His762Leu) c.2204A>T (p.His735Leu) c.2189A>T (p.His730Leu) c.1796A>T (p.His599Leu) c.2258A>T (p.His753Leu) c.2192A>T (p.His731Leu) c.2150A>T (p.His717Leu) c.1223A>T (p.His408Leu) | |
20 | g.63407056T>C | CA409638517 | KCNQ2 | c.2261A>G (p.His754Arg) c.2207A>G (p.His736Arg) c.1604A>G (p.His535Arg) c.2114A>G (p.His705Arg) c.1775A>G (p.His592Arg) c.2123A>G (p.His708Arg) c.2231A>G (p.His744Arg) c.2195A>G (p.His732Arg) c.2153A>G (p.His718Arg) c.1680-6213A>G (n.1680-6213A>G) c.2249A>G (p.His750Arg) c.2315A>G (p.His772Arg) c.2312A>G (p.His771Arg) c.2285A>G (p.His762Arg) c.2204A>G (p.His735Arg) c.2189A>G (p.His730Arg) c.1796A>G (p.His599Arg) c.2258A>G (p.His753Arg) c.2192A>G (p.His731Arg) c.2150A>G (p.His717Arg) c.1223A>G (p.His408Arg) | gnomAD v4 |
20 | g.63407056T>G | CA409638519 | KCNQ2 | c.2261A>C (p.His754Pro) c.2207A>C (p.His736Pro) c.1604A>C (p.His535Pro) c.2114A>C (p.His705Pro) c.1775A>C (p.His592Pro) c.2123A>C (p.His708Pro) c.2231A>C (p.His744Pro) c.2195A>C (p.His732Pro) c.2153A>C (p.His718Pro) c.1680-6213A>C (n.1680-6213A>C) c.2249A>C (p.His750Pro) c.2315A>C (p.His772Pro) c.2312A>C (p.His771Pro) c.2285A>C (p.His762Pro) c.2204A>C (p.His735Pro) c.2189A>C (p.His730Pro) c.1796A>C (p.His599Pro) c.2258A>C (p.His753Pro) c.2192A>C (p.His731Pro) c.2150A>C (p.His717Pro) c.1223A>C (p.His408Pro) | |
20 | g.63407057G>A | CA409638526 | KCNQ2 | c.2260C>T (p.His754Tyr) c.2206C>T (p.His736Tyr) c.1603C>T (p.His535Tyr) c.2113C>T (p.His705Tyr) c.1774C>T (p.His592Tyr) c.2122C>T (p.His708Tyr) c.2230C>T (p.His744Tyr) c.2194C>T (p.His732Tyr) c.2152C>T (p.His718Tyr) c.1680-6214C>T (n.1680-6214C>T) c.2248C>T (p.His750Tyr) c.2314C>T (p.His772Tyr) c.2311C>T (p.His771Tyr) c.2284C>T (p.His762Tyr) c.2203C>T (p.His735Tyr) c.2188C>T (p.His730Tyr) c.1795C>T (p.His599Tyr) c.2257C>T (p.His753Tyr) c.2191C>T (p.His731Tyr) c.2149C>T (p.His717Tyr) c.1222C>T (p.His408Tyr) | gnomAD v4 |
20 | g.63407057G>C | CA409638523 | KCNQ2 | c.2260C>G (p.His754Asp) c.2206C>G (p.His736Asp) c.1603C>G (p.His535Asp) c.2113C>G (p.His705Asp) c.1774C>G (p.His592Asp) c.2122C>G (p.His708Asp) c.2230C>G (p.His744Asp) c.2194C>G (p.His732Asp) c.2152C>G (p.His718Asp) c.1680-6214C>G (n.1680-6214C>G) c.2248C>G (p.His750Asp) c.2314C>G (p.His772Asp) c.2311C>G (p.His771Asp) c.2284C>G (p.His762Asp) c.2203C>G (p.His735Asp) c.2188C>G (p.His730Asp) c.1795C>G (p.His599Asp) c.2257C>G (p.His753Asp) c.2191C>G (p.His731Asp) c.2149C>G (p.His717Asp) c.1222C>G (p.His408Asp) | |
20 | g.63407057G>T | CA409638525 | KCNQ2 | c.2260C>A (p.His754Asn) c.2206C>A (p.His736Asn) c.1603C>A (p.His535Asn) c.2113C>A (p.His705Asn) c.1774C>A (p.His592Asn) c.2122C>A (p.His708Asn) c.2230C>A (p.His744Asn) c.2194C>A (p.His732Asn) c.2152C>A (p.His718Asn) c.1680-6214C>A (n.1680-6214C>A) c.2248C>A (p.His750Asn) c.2314C>A (p.His772Asn) c.2311C>A (p.His771Asn) c.2284C>A (p.His762Asn) c.2203C>A (p.His735Asn) c.2188C>A (p.His730Asn) c.1795C>A (p.His599Asn) c.2257C>A (p.His753Asn) c.2191C>A (p.His731Asn) c.2149C>A (p.His717Asn) c.1222C>A (p.His408Asn) | gnomAD v4 |
20 | g.63407058G>A | CA511339483 | KCNQ2 | c.2259C>T (p.Asp753=) c.2205C>T (p.Asp735=) c.1602C>T (p.Asp534=) c.2112C>T (p.Asp704=) c.1773C>T (p.Asp591=) c.2121C>T (p.Asp707=) c.2229C>T (p.Asp743=) c.2193C>T (p.Asp731=) c.2151C>T (p.Asp717=) c.1680-6215C>T (n.1680-6215C>T) c.2247C>T (p.Asp749=) c.2313C>T (p.Asp771=) c.2310C>T (p.Asp770=) c.2283C>T (p.Asp761=) c.2202C>T (p.Asp734=) c.2187C>T (p.Asp729=) c.1794C>T (p.Asp598=) c.2256C>T (p.Asp752=) c.2190C>T (p.Asp730=) c.2148C>T (p.Asp716=) c.1221C>T (p.Asp407=) | gnomAD v4 |
20 | g.63407058G>C | CA409638530 | KCNQ2 | c.2259C>G (p.Asp753Glu) c.2205C>G (p.Asp735Glu) c.1602C>G (p.Asp534Glu) c.2112C>G (p.Asp704Glu) c.1773C>G (p.Asp591Glu) c.2121C>G (p.Asp707Glu) c.2229C>G (p.Asp743Glu) c.2193C>G (p.Asp731Glu) c.2151C>G (p.Asp717Glu) c.1680-6215C>G (n.1680-6215C>G) c.2247C>G (p.Asp749Glu) c.2313C>G (p.Asp771Glu) c.2310C>G (p.Asp770Glu) c.2283C>G (p.Asp761Glu) c.2202C>G (p.Asp734Glu) c.2187C>G (p.Asp729Glu) c.1794C>G (p.Asp598Glu) c.2256C>G (p.Asp752Glu) c.2190C>G (p.Asp730Glu) c.2148C>G (p.Asp716Glu) c.1221C>G (p.Asp407Glu) | |
20 | g.63407058G>T | CA409638533 | KCNQ2 | c.2259C>A (p.Asp753Glu) c.2205C>A (p.Asp735Glu) c.1602C>A (p.Asp534Glu) c.2112C>A (p.Asp704Glu) c.1773C>A (p.Asp591Glu) c.2121C>A (p.Asp707Glu) c.2229C>A (p.Asp743Glu) c.2193C>A (p.Asp731Glu) c.2151C>A (p.Asp717Glu) c.1680-6215C>A (n.1680-6215C>A) c.2247C>A (p.Asp749Glu) c.2313C>A (p.Asp771Glu) c.2310C>A (p.Asp770Glu) c.2283C>A (p.Asp761Glu) c.2202C>A (p.Asp734Glu) c.2187C>A (p.Asp729Glu) c.1794C>A (p.Asp598Glu) c.2256C>A (p.Asp752Glu) c.2190C>A (p.Asp730Glu) c.2148C>A (p.Asp716Glu) c.1221C>A (p.Asp407Glu) | gnomAD v4 |
20 | g.63407059del | CA2573157301 | KCNQ2 | c.2258del (p.Asp753AlafsTer?) c.2204del (p.Asp735AlafsTer?) c.1601del (p.Asp534AlafsTer?) c.2111del (p.Asp704AlafsTer?) c.1772del (p.Asp591AlafsTer?) c.2120del (p.Asp707AlafsTer?) c.2228del (p.Asp743AlafsTer?) c.2192del (p.Asp731AlafsTer?) c.2150del (p.Asp717AlafsTer?) c.1680-6216del (n.1680-6216del) c.2246del (p.Asp749AlafsTer?) c.2312del (p.Asp771AlafsTer?) c.2309del (p.Asp770AlafsTer?) c.2282del (p.Asp761AlafsTer?) c.2201del (p.Asp734AlafsTer?) c.2186del (p.Asp729AlafsTer?) c.1793del (p.Asp598AlafsTer?) c.2255del (p.Asp752AlafsTer?) c.2189del (p.Asp730AlafsTer?) c.2147del (p.Asp716AlafsTer?) c.1220del (p.Asp407AlafsTer?) | ClinVar dbSNP |
20 | g.63407059T>A | CA409638535 | KCNQ2 | c.2258A>T (p.Asp753Val) c.2204A>T (p.Asp735Val) c.1601A>T (p.Asp534Val) c.2111A>T (p.Asp704Val) c.1772A>T (p.Asp591Val) c.2120A>T (p.Asp707Val) c.2228A>T (p.Asp743Val) c.2192A>T (p.Asp731Val) c.2150A>T (p.Asp717Val) c.1680-6216A>T (n.1680-6216A>T) c.2246A>T (p.Asp749Val) c.2312A>T (p.Asp771Val) c.2309A>T (p.Asp770Val) c.2282A>T (p.Asp761Val) c.2201A>T (p.Asp734Val) c.2186A>T (p.Asp729Val) c.1793A>T (p.Asp598Val) c.2255A>T (p.Asp752Val) c.2189A>T (p.Asp730Val) c.2147A>T (p.Asp716Val) c.1220A>T (p.Asp407Val) | |
20 | g.63407059T>C | CA409638538 | KCNQ2 | c.2258A>G (p.Asp753Gly) c.2204A>G (p.Asp735Gly) c.1601A>G (p.Asp534Gly) c.2111A>G (p.Asp704Gly) c.1772A>G (p.Asp591Gly) c.2120A>G (p.Asp707Gly) c.2228A>G (p.Asp743Gly) c.2192A>G (p.Asp731Gly) c.2150A>G (p.Asp717Gly) c.1680-6216A>G (n.1680-6216A>G) c.2246A>G (p.Asp749Gly) c.2312A>G (p.Asp771Gly) c.2309A>G (p.Asp770Gly) c.2282A>G (p.Asp761Gly) c.2201A>G (p.Asp734Gly) c.2186A>G (p.Asp729Gly) c.1793A>G (p.Asp598Gly) c.2255A>G (p.Asp752Gly) c.2189A>G (p.Asp730Gly) c.2147A>G (p.Asp716Gly) c.1220A>G (p.Asp407Gly) | ClinVar dbSNP gnomAD v4 |
20 | g.63407059T>G | CA9958126 | KCNQ2 | c.2258A>C (p.Asp753Ala) c.2204A>C (p.Asp735Ala) c.1601A>C (p.Asp534Ala) c.2111A>C (p.Asp704Ala) c.1772A>C (p.Asp591Ala) c.2120A>C (p.Asp707Ala) c.2228A>C (p.Asp743Ala) c.2192A>C (p.Asp731Ala) c.2150A>C (p.Asp717Ala) c.1680-6216A>C (n.1680-6216A>C) c.2246A>C (p.Asp749Ala) c.2312A>C (p.Asp771Ala) c.2309A>C (p.Asp770Ala) c.2282A>C (p.Asp761Ala) c.2201A>C (p.Asp734Ala) c.2186A>C (p.Asp729Ala) c.1793A>C (p.Asp598Ala) c.2255A>C (p.Asp752Ala) c.2189A>C (p.Asp730Ala) c.2147A>C (p.Asp716Ala) c.1220A>C (p.Asp407Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63407059T= | CA2374774395 | KCNQ2 | c.2258A= (p.Asp753=) c.2204A= (p.Asp735=) c.1601A= (p.Asp534=) c.2111A= (p.Asp704=) c.1772A= (p.Asp591=) c.2120A= (p.Asp707=) c.2228A= (p.Asp743=) c.2192A= (p.Asp731=) c.2150A= (p.Asp717=) c.1680-6216A= (n.1680-6216A=) c.2246A= (p.Asp749=) c.2312A= (p.Asp771=) c.2309A= (p.Asp770=) c.2282A= (p.Asp761=) c.2201A= (p.Asp734=) c.2186A= (p.Asp729=) c.1793A= (p.Asp598=) c.2255A= (p.Asp752=) c.2189A= (p.Asp730=) c.2147A= (p.Asp716=) c.1220A= (p.Asp407=) | |
20 | g.63407060C>A | CA409638542 | KCNQ2 | c.2257G>T (p.Asp753Tyr) c.2203G>T (p.Asp735Tyr) c.1600G>T (p.Asp534Tyr) c.2110G>T (p.Asp704Tyr) c.1771G>T (p.Asp591Tyr) c.2119G>T (p.Asp707Tyr) c.2227G>T (p.Asp743Tyr) c.2191G>T (p.Asp731Tyr) c.2149G>T (p.Asp717Tyr) c.1680-6217G>T (n.1680-6217G>T) c.2245G>T (p.Asp749Tyr) c.2311G>T (p.Asp771Tyr) c.2308G>T (p.Asp770Tyr) c.2281G>T (p.Asp761Tyr) c.2200G>T (p.Asp734Tyr) c.2185G>T (p.Asp729Tyr) c.1792G>T (p.Asp598Tyr) c.2254G>T (p.Asp752Tyr) c.2188G>T (p.Asp730Tyr) c.2146G>T (p.Asp716Tyr) c.1219G>T (p.Asp407Tyr) | ClinVar gnomAD v4 |
20 | g.63407060C= | CA2374774396 | KCNQ2 | c.2257G= (p.Asp753=) c.2203G= (p.Asp735=) c.1600G= (p.Asp534=) c.2110G= (p.Asp704=) c.1771G= (p.Asp591=) c.2119G= (p.Asp707=) c.2227G= (p.Asp743=) c.2191G= (p.Asp731=) c.2149G= (p.Asp717=) c.1680-6217G= (n.1680-6217G=) c.2245G= (p.Asp749=) c.2311G= (p.Asp771=) c.2308G= (p.Asp770=) c.2281G= (p.Asp761=) c.2200G= (p.Asp734=) c.2185G= (p.Asp729=) c.1792G= (p.Asp598=) c.2254G= (p.Asp752=) c.2188G= (p.Asp730=) c.2146G= (p.Asp716=) c.1219G= (p.Asp407=) | |
20 | g.63407060C>G | CA409638545 | KCNQ2 | c.2257G>C (p.Asp753His) c.2203G>C (p.Asp735His) c.1600G>C (p.Asp534His) c.2110G>C (p.Asp704His) c.1771G>C (p.Asp591His) c.2119G>C (p.Asp707His) c.2227G>C (p.Asp743His) c.2191G>C (p.Asp731His) c.2149G>C (p.Asp717His) c.1680-6217G>C (n.1680-6217G>C) c.2245G>C (p.Asp749His) c.2311G>C (p.Asp771His) c.2308G>C (p.Asp770His) c.2281G>C (p.Asp761His) c.2200G>C (p.Asp734His) c.2185G>C (p.Asp729His) c.1792G>C (p.Asp598His) c.2254G>C (p.Asp752His) c.2188G>C (p.Asp730His) c.2146G>C (p.Asp716His) c.1219G>C (p.Asp407His) | |
20 | g.63407060C>T | CA409638548 | KCNQ2 | c.2257G>A (p.Asp753Asn) c.2203G>A (p.Asp735Asn) c.1600G>A (p.Asp534Asn) c.2110G>A (p.Asp704Asn) c.1771G>A (p.Asp591Asn) c.2119G>A (p.Asp707Asn) c.2227G>A (p.Asp743Asn) c.2191G>A (p.Asp731Asn) c.2149G>A (p.Asp717Asn) c.1680-6217G>A (n.1680-6217G>A) c.2245G>A (p.Asp749Asn) c.2311G>A (p.Asp771Asn) c.2308G>A (p.Asp770Asn) c.2281G>A (p.Asp761Asn) c.2200G>A (p.Asp734Asn) c.2185G>A (p.Asp729Asn) c.1792G>A (p.Asp598Asn) c.2254G>A (p.Asp752Asn) c.2188G>A (p.Asp730Asn) c.2146G>A (p.Asp716Asn) c.1219G>A (p.Asp407Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407064del | CA2653805408 | KCNQ2 | c.2257del (p.Asp753ThrfsTer?) c.2203del (p.Asp735ThrfsTer?) c.1600del (p.Asp534ThrfsTer?) c.2110del (p.Asp704ThrfsTer?) c.1771del (p.Asp591ThrfsTer?) c.2119del (p.Asp707ThrfsTer?) c.2227del (p.Asp743ThrfsTer?) c.2191del (p.Asp731ThrfsTer?) c.2149del (p.Asp717ThrfsTer?) c.1680-6217del (n.1680-6217del) c.2245del (p.Asp749ThrfsTer?) c.2311del (p.Asp771ThrfsTer?) c.2308del (p.Asp770ThrfsTer?) c.2281del (p.Asp761ThrfsTer?) c.2200del (p.Asp734ThrfsTer?) c.2185del (p.Asp729ThrfsTer?) c.1792del (p.Asp598ThrfsTer?) c.2254del (p.Asp752ThrfsTer?) c.2188del (p.Asp730ThrfsTer?) c.2146del (p.Asp716ThrfsTer?) c.1219del (p.Asp407ThrfsTer?) | gnomAD v4 |
20 | g.63407061C>A | CA511339484 | KCNQ2 | c.2256G>T (p.Gly752=) c.2202G>T (p.Gly734=) c.1599G>T (p.Gly533=) c.2109G>T (p.Gly703=) c.1770G>T (p.Gly590=) c.2118G>T (p.Gly706=) c.2226G>T (p.Gly742=) c.2190G>T (p.Gly730=) c.2148G>T (p.Gly716=) c.1680-6218G>T (n.1680-6218G>T) c.2244G>T (p.Gly748=) c.2310G>T (p.Gly770=) c.2307G>T (p.Gly769=) c.2280G>T (p.Gly760=) c.2199G>T (p.Gly733=) c.2184G>T (p.Gly728=) c.1791G>T (p.Gly597=) c.2253G>T (p.Gly751=) c.2187G>T (p.Gly729=) c.2145G>T (p.Gly715=) c.1218G>T (p.Gly406=) | gnomAD v4 |
20 | g.63407061C>G | CA511339485 | KCNQ2 | c.2256G>C (p.Gly752=) c.2202G>C (p.Gly734=) c.1599G>C (p.Gly533=) c.2109G>C (p.Gly703=) c.1770G>C (p.Gly590=) c.2118G>C (p.Gly706=) c.2226G>C (p.Gly742=) c.2190G>C (p.Gly730=) c.2148G>C (p.Gly716=) c.1680-6218G>C (n.1680-6218G>C) c.2244G>C (p.Gly748=) c.2310G>C (p.Gly770=) c.2307G>C (p.Gly769=) c.2280G>C (p.Gly760=) c.2199G>C (p.Gly733=) c.2184G>C (p.Gly728=) c.1791G>C (p.Gly597=) c.2253G>C (p.Gly751=) c.2187G>C (p.Gly729=) c.2145G>C (p.Gly715=) c.1218G>C (p.Gly406=) | |
20 | g.63407061C>T | CA511339486 | KCNQ2 | c.2256G>A (p.Gly752=) c.2202G>A (p.Gly734=) c.1599G>A (p.Gly533=) c.2109G>A (p.Gly703=) c.1770G>A (p.Gly590=) c.2118G>A (p.Gly706=) c.2226G>A (p.Gly742=) c.2190G>A (p.Gly730=) c.2148G>A (p.Gly716=) c.1680-6218G>A (n.1680-6218G>A) c.2244G>A (p.Gly748=) c.2310G>A (p.Gly770=) c.2307G>A (p.Gly769=) c.2280G>A (p.Gly760=) c.2199G>A (p.Gly733=) c.2184G>A (p.Gly728=) c.1791G>A (p.Gly597=) c.2253G>A (p.Gly751=) c.2187G>A (p.Gly729=) c.2145G>A (p.Gly715=) c.1218G>A (p.Gly406=) | |
20 | g.63407062C>A | CA409638551 | KCNQ2 | c.2255G>T (p.Gly752Val) c.2201G>T (p.Gly734Val) c.1598G>T (p.Gly533Val) c.2108G>T (p.Gly703Val) c.1769G>T (p.Gly590Val) c.2117G>T (p.Gly706Val) c.2225G>T (p.Gly742Val) c.2189G>T (p.Gly730Val) c.2147G>T (p.Gly716Val) c.1680-6219G>T (n.1680-6219G>T) c.2243G>T (p.Gly748Val) c.2309G>T (p.Gly770Val) c.2306G>T (p.Gly769Val) c.2279G>T (p.Gly760Val) c.2198G>T (p.Gly733Val) c.2183G>T (p.Gly728Val) c.1790G>T (p.Gly597Val) c.2252G>T (p.Gly751Val) c.2186G>T (p.Gly729Val) c.2144G>T (p.Gly715Val) c.1217G>T (p.Gly406Val) | gnomAD v4 |
20 | g.63407062C= | CA2374774397 | KCNQ2 | c.2255G= (p.Gly752=) c.2201G= (p.Gly734=) c.1598G= (p.Gly533=) c.2108G= (p.Gly703=) c.1769G= (p.Gly590=) c.2117G= (p.Gly706=) c.2225G= (p.Gly742=) c.2189G= (p.Gly730=) c.2147G= (p.Gly716=) c.1680-6219G= (n.1680-6219G=) c.2243G= (p.Gly748=) c.2309G= (p.Gly770=) c.2306G= (p.Gly769=) c.2279G= (p.Gly760=) c.2198G= (p.Gly733=) c.2183G= (p.Gly728=) c.1790G= (p.Gly597=) c.2252G= (p.Gly751=) c.2186G= (p.Gly729=) c.2144G= (p.Gly715=) c.1217G= (p.Gly406=) | |
20 | g.63407062C>G | CA409638553 | KCNQ2 | c.2255G>C (p.Gly752Ala) c.2201G>C (p.Gly734Ala) c.1598G>C (p.Gly533Ala) c.2108G>C (p.Gly703Ala) c.1769G>C (p.Gly590Ala) c.2117G>C (p.Gly706Ala) c.2225G>C (p.Gly742Ala) c.2189G>C (p.Gly730Ala) c.2147G>C (p.Gly716Ala) c.1680-6219G>C (n.1680-6219G>C) c.2243G>C (p.Gly748Ala) c.2309G>C (p.Gly770Ala) c.2306G>C (p.Gly769Ala) c.2279G>C (p.Gly760Ala) c.2198G>C (p.Gly733Ala) c.2183G>C (p.Gly728Ala) c.1790G>C (p.Gly597Ala) c.2252G>C (p.Gly751Ala) c.2186G>C (p.Gly729Ala) c.2144G>C (p.Gly715Ala) c.1217G>C (p.Gly406Ala) | |
20 | g.63407062C>T | CA409638556 | KCNQ2 | c.2255G>A (p.Gly752Glu) c.2201G>A (p.Gly734Glu) c.1598G>A (p.Gly533Glu) c.2108G>A (p.Gly703Glu) c.1769G>A (p.Gly590Glu) c.2117G>A (p.Gly706Glu) c.2225G>A (p.Gly742Glu) c.2189G>A (p.Gly730Glu) c.2147G>A (p.Gly716Glu) c.1680-6219G>A (n.1680-6219G>A) c.2243G>A (p.Gly748Glu) c.2309G>A (p.Gly770Glu) c.2306G>A (p.Gly769Glu) c.2279G>A (p.Gly760Glu) c.2198G>A (p.Gly733Glu) c.2183G>A (p.Gly728Glu) c.1790G>A (p.Gly597Glu) c.2252G>A (p.Gly751Glu) c.2186G>A (p.Gly729Glu) c.2144G>A (p.Gly715Glu) c.1217G>A (p.Gly406Glu) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407063C>A | CA409638565 | KCNQ2 | c.2254G>T (p.Gly752Trp) c.2200G>T (p.Gly734Trp) c.1597G>T (p.Gly533Trp) c.2107G>T (p.Gly703Trp) c.1768G>T (p.Gly590Trp) c.2116G>T (p.Gly706Trp) c.2224G>T (p.Gly742Trp) c.2188G>T (p.Gly730Trp) c.2146G>T (p.Gly716Trp) c.1680-6220G>T (n.1680-6220G>T) c.2242G>T (p.Gly748Trp) c.2308G>T (p.Gly770Trp) c.2305G>T (p.Gly769Trp) c.2278G>T (p.Gly760Trp) c.2197G>T (p.Gly733Trp) c.2182G>T (p.Gly728Trp) c.1789G>T (p.Gly597Trp) c.2251G>T (p.Gly751Trp) c.2185G>T (p.Gly729Trp) c.2143G>T (p.Gly715Trp) c.1216G>T (p.Gly406Trp) | |
20 | g.63407063C= | CA2374774398 | KCNQ2 | c.2254G= (p.Gly752=) c.2200G= (p.Gly734=) c.1597G= (p.Gly533=) c.2107G= (p.Gly703=) c.1768G= (p.Gly590=) c.2116G= (p.Gly706=) c.2224G= (p.Gly742=) c.2188G= (p.Gly730=) c.2146G= (p.Gly716=) c.1680-6220G= (n.1680-6220G=) c.2242G= (p.Gly748=) c.2308G= (p.Gly770=) c.2305G= (p.Gly769=) c.2278G= (p.Gly760=) c.2197G= (p.Gly733=) c.2182G= (p.Gly728=) c.1789G= (p.Gly597=) c.2251G= (p.Gly751=) c.2185G= (p.Gly729=) c.2143G= (p.Gly715=) c.1216G= (p.Gly406=) | |
20 | g.63407063C>G | CA409638562 | KCNQ2 | c.2254G>C (p.Gly752Arg) c.2200G>C (p.Gly734Arg) c.1597G>C (p.Gly533Arg) c.2107G>C (p.Gly703Arg) c.1768G>C (p.Gly590Arg) c.2116G>C (p.Gly706Arg) c.2224G>C (p.Gly742Arg) c.2188G>C (p.Gly730Arg) c.2146G>C (p.Gly716Arg) c.1680-6220G>C (n.1680-6220G>C) c.2242G>C (p.Gly748Arg) c.2308G>C (p.Gly770Arg) c.2305G>C (p.Gly769Arg) c.2278G>C (p.Gly760Arg) c.2197G>C (p.Gly733Arg) c.2182G>C (p.Gly728Arg) c.1789G>C (p.Gly597Arg) c.2251G>C (p.Gly751Arg) c.2185G>C (p.Gly729Arg) c.2143G>C (p.Gly715Arg) c.1216G>C (p.Gly406Arg) | dbSNP gnomAD v2 |
20 | g.63407063C>T | CA409638559 | KCNQ2 | c.2254G>A (p.Gly752Arg) c.2200G>A (p.Gly734Arg) c.1597G>A (p.Gly533Arg) c.2107G>A (p.Gly703Arg) c.1768G>A (p.Gly590Arg) c.2116G>A (p.Gly706Arg) c.2224G>A (p.Gly742Arg) c.2188G>A (p.Gly730Arg) c.2146G>A (p.Gly716Arg) c.1680-6220G>A (n.1680-6220G>A) c.2242G>A (p.Gly748Arg) c.2308G>A (p.Gly770Arg) c.2305G>A (p.Gly769Arg) c.2278G>A (p.Gly760Arg) c.2197G>A (p.Gly733Arg) c.2182G>A (p.Gly728Arg) c.1789G>A (p.Gly597Arg) c.2251G>A (p.Gly751Arg) c.2185G>A (p.Gly729Arg) c.2143G>A (p.Gly715Arg) c.1216G>A (p.Gly406Arg) | ClinVar |
20 | g.63407064C>A | CA511339487 | KCNQ2 | c.2253G>T (p.Val751=) c.2199G>T (p.Val733=) c.1596G>T (p.Val532=) c.2106G>T (p.Val702=) c.1767G>T (p.Val589=) c.2115G>T (p.Val705=) c.2223G>T (p.Val741=) c.2187G>T (p.Val729=) c.2145G>T (p.Val715=) c.1680-6221G>T (n.1680-6221G>T) c.2241G>T (p.Val747=) c.2307G>T (p.Val769=) c.2304G>T (p.Val768=) c.2277G>T (p.Val759=) c.2196G>T (p.Val732=) c.2181G>T (p.Val727=) c.1788G>T (p.Val596=) c.2250G>T (p.Val750=) c.2184G>T (p.Val728=) c.2142G>T (p.Val714=) c.1215G>T (p.Val405=) | gnomAD v4 |
20 | g.63407064C= | CA2374774399 | KCNQ2 | c.2253G= (p.Val751=) c.2199G= (p.Val733=) c.1596G= (p.Val532=) c.2106G= (p.Val702=) c.1767G= (p.Val589=) c.2115G= (p.Val705=) c.2223G= (p.Val741=) c.2187G= (p.Val729=) c.2145G= (p.Val715=) c.1680-6221G= (n.1680-6221G=) c.2241G= (p.Val747=) c.2307G= (p.Val769=) c.2304G= (p.Val768=) c.2277G= (p.Val759=) c.2196G= (p.Val732=) c.2181G= (p.Val727=) c.1788G= (p.Val596=) c.2250G= (p.Val750=) c.2184G= (p.Val728=) c.2142G= (p.Val714=) c.1215G= (p.Val405=) | |
20 | g.63407064C>G | CA511339489 | KCNQ2 | c.2253G>C (p.Val751=) c.2199G>C (p.Val733=) c.1596G>C (p.Val532=) c.2106G>C (p.Val702=) c.1767G>C (p.Val589=) c.2115G>C (p.Val705=) c.2223G>C (p.Val741=) c.2187G>C (p.Val729=) c.2145G>C (p.Val715=) c.1680-6221G>C (n.1680-6221G>C) c.2241G>C (p.Val747=) c.2307G>C (p.Val769=) c.2304G>C (p.Val768=) c.2277G>C (p.Val759=) c.2196G>C (p.Val732=) c.2181G>C (p.Val727=) c.1788G>C (p.Val596=) c.2250G>C (p.Val750=) c.2184G>C (p.Val728=) c.2142G>C (p.Val714=) c.1215G>C (p.Val405=) | gnomAD v4 |
20 | g.63407064C>T | CA511339488 | KCNQ2 | c.2253G>A (p.Val751=) c.2199G>A (p.Val733=) c.1596G>A (p.Val532=) c.2106G>A (p.Val702=) c.1767G>A (p.Val589=) c.2115G>A (p.Val705=) c.2223G>A (p.Val741=) c.2187G>A (p.Val729=) c.2145G>A (p.Val715=) c.1680-6221G>A (n.1680-6221G>A) c.2241G>A (p.Val747=) c.2307G>A (p.Val769=) c.2304G>A (p.Val768=) c.2277G>A (p.Val759=) c.2196G>A (p.Val732=) c.2181G>A (p.Val727=) c.1788G>A (p.Val596=) c.2250G>A (p.Val750=) c.2184G>A (p.Val728=) c.2142G>A (p.Val714=) c.1215G>A (p.Val405=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407065A>C | CA409638568 | KCNQ2 | c.2252T>G (p.Val751Gly) c.2198T>G (p.Val733Gly) c.1595T>G (p.Val532Gly) c.2105T>G (p.Val702Gly) c.1766T>G (p.Val589Gly) c.2114T>G (p.Val705Gly) c.2222T>G (p.Val741Gly) c.2186T>G (p.Val729Gly) c.2144T>G (p.Val715Gly) c.1680-6222T>G (n.1680-6222T>G) c.2240T>G (p.Val747Gly) c.2306T>G (p.Val769Gly) c.2303T>G (p.Val768Gly) c.2276T>G (p.Val759Gly) c.2195T>G (p.Val732Gly) c.2180T>G (p.Val727Gly) c.1787T>G (p.Val596Gly) c.2249T>G (p.Val750Gly) c.2183T>G (p.Val728Gly) c.2141T>G (p.Val714Gly) c.1214T>G (p.Val405Gly) | |
20 | g.63407065A>G | CA409638571 | KCNQ2 | c.2252T>C (p.Val751Ala) c.2198T>C (p.Val733Ala) c.1595T>C (p.Val532Ala) c.2105T>C (p.Val702Ala) c.1766T>C (p.Val589Ala) c.2114T>C (p.Val705Ala) c.2222T>C (p.Val741Ala) c.2186T>C (p.Val729Ala) c.2144T>C (p.Val715Ala) c.1680-6222T>C (n.1680-6222T>C) c.2240T>C (p.Val747Ala) c.2306T>C (p.Val769Ala) c.2303T>C (p.Val768Ala) c.2276T>C (p.Val759Ala) c.2195T>C (p.Val732Ala) c.2180T>C (p.Val727Ala) c.1787T>C (p.Val596Ala) c.2249T>C (p.Val750Ala) c.2183T>C (p.Val728Ala) c.2141T>C (p.Val714Ala) c.1214T>C (p.Val405Ala) | ClinVar gnomAD v4 |
20 | g.63407065A>T | CA409638574 | KCNQ2 | c.2252T>A (p.Val751Glu) c.2198T>A (p.Val733Glu) c.1595T>A (p.Val532Glu) c.2105T>A (p.Val702Glu) c.1766T>A (p.Val589Glu) c.2114T>A (p.Val705Glu) c.2222T>A (p.Val741Glu) c.2186T>A (p.Val729Glu) c.2144T>A (p.Val715Glu) c.1680-6222T>A (n.1680-6222T>A) c.2240T>A (p.Val747Glu) c.2306T>A (p.Val769Glu) c.2303T>A (p.Val768Glu) c.2276T>A (p.Val759Glu) c.2195T>A (p.Val732Glu) c.2180T>A (p.Val727Glu) c.1787T>A (p.Val596Glu) c.2249T>A (p.Val750Glu) c.2183T>A (p.Val728Glu) c.2141T>A (p.Val714Glu) c.1214T>A (p.Val405Glu) | |
20 | g.63407066C>A | CA409638576 | KCNQ2 | c.2251G>T (p.Val751Leu) c.2197G>T (p.Val733Leu) c.1594G>T (p.Val532Leu) c.2104G>T (p.Val702Leu) c.1765G>T (p.Val589Leu) c.2113G>T (p.Val705Leu) c.2221G>T (p.Val741Leu) c.2185G>T (p.Val729Leu) c.2143G>T (p.Val715Leu) c.1680-6223G>T (n.1680-6223G>T) c.2239G>T (p.Val747Leu) c.2305G>T (p.Val769Leu) c.2302G>T (p.Val768Leu) c.2275G>T (p.Val759Leu) c.2194G>T (p.Val732Leu) c.2179G>T (p.Val727Leu) c.1786G>T (p.Val596Leu) c.2248G>T (p.Val750Leu) c.2182G>T (p.Val728Leu) c.2140G>T (p.Val714Leu) c.1213G>T (p.Val405Leu) | gnomAD v4 |
20 | g.63407066C= | CA2374774400 | KCNQ2 | c.2251G= (p.Val751=) c.2197G= (p.Val733=) c.1594G= (p.Val532=) c.2104G= (p.Val702=) c.1765G= (p.Val589=) c.2113G= (p.Val705=) c.2221G= (p.Val741=) c.2185G= (p.Val729=) c.2143G= (p.Val715=) c.1680-6223G= (n.1680-6223G=) c.2239G= (p.Val747=) c.2305G= (p.Val769=) c.2302G= (p.Val768=) c.2275G= (p.Val759=) c.2194G= (p.Val732=) c.2179G= (p.Val727=) c.1786G= (p.Val596=) c.2248G= (p.Val750=) c.2182G= (p.Val728=) c.2140G= (p.Val714=) c.1213G= (p.Val405=) | |
20 | g.63407066C>G | CA9958127 | KCNQ2 | c.2251G>C (p.Val751Leu) c.2197G>C (p.Val733Leu) c.1594G>C (p.Val532Leu) c.2104G>C (p.Val702Leu) c.1765G>C (p.Val589Leu) c.2113G>C (p.Val705Leu) c.2221G>C (p.Val741Leu) c.2185G>C (p.Val729Leu) c.2143G>C (p.Val715Leu) c.1680-6223G>C (n.1680-6223G>C) c.2239G>C (p.Val747Leu) c.2305G>C (p.Val769Leu) c.2302G>C (p.Val768Leu) c.2275G>C (p.Val759Leu) c.2194G>C (p.Val732Leu) c.2179G>C (p.Val727Leu) c.1786G>C (p.Val596Leu) c.2248G>C (p.Val750Leu) c.2182G>C (p.Val728Leu) c.2140G>C (p.Val714Leu) c.1213G>C (p.Val405Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63407066C>T | CA9958128 | KCNQ2 | c.2251G>A (p.Val751Met) c.2197G>A (p.Val733Met) c.1594G>A (p.Val532Met) c.2104G>A (p.Val702Met) c.1765G>A (p.Val589Met) c.2113G>A (p.Val705Met) c.2221G>A (p.Val741Met) c.2185G>A (p.Val729Met) c.2143G>A (p.Val715Met) c.1680-6223G>A (n.1680-6223G>A) c.2239G>A (p.Val747Met) c.2305G>A (p.Val769Met) c.2302G>A (p.Val768Met) c.2275G>A (p.Val759Met) c.2194G>A (p.Val732Met) c.2179G>A (p.Val727Met) c.1786G>A (p.Val596Met) c.2248G>A (p.Val750Met) c.2182G>A (p.Val728Met) c.2140G>A (p.Val714Met) c.1213G>A (p.Val405Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63407067G>A | CA317422130 | KCNQ2 | c.2250C>T (p.Pro750=) c.2196C>T (p.Pro732=) c.1593C>T (p.Pro531=) c.2103C>T (p.Pro701=) c.1764C>T (p.Pro588=) c.2112C>T (p.Pro704=) c.2220C>T (p.Pro740=) c.2184C>T (p.Pro728=) c.2142C>T (p.Pro714=) c.1680-6224C>T (n.1680-6224C>T) c.2238C>T (p.Pro746=) c.2304C>T (p.Pro768=) c.2301C>T (p.Pro767=) c.2274C>T (p.Pro758=) c.2193C>T (p.Pro731=) c.2178C>T (p.Pro726=) c.1785C>T (p.Pro595=) c.2247C>T (p.Pro749=) c.2181C>T (p.Pro727=) c.2139C>T (p.Pro713=) c.1212C>T (p.Pro404=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407067G>C | CA511339490 | KCNQ2 | c.2250C>G (p.Pro750=) c.2196C>G (p.Pro732=) c.1593C>G (p.Pro531=) c.2103C>G (p.Pro701=) c.1764C>G (p.Pro588=) c.2112C>G (p.Pro704=) c.2220C>G (p.Pro740=) c.2184C>G (p.Pro728=) c.2142C>G (p.Pro714=) c.1680-6224C>G (n.1680-6224C>G) c.2238C>G (p.Pro746=) c.2304C>G (p.Pro768=) c.2301C>G (p.Pro767=) c.2274C>G (p.Pro758=) c.2193C>G (p.Pro731=) c.2178C>G (p.Pro726=) c.1785C>G (p.Pro595=) c.2247C>G (p.Pro749=) c.2181C>G (p.Pro727=) c.2139C>G (p.Pro713=) c.1212C>G (p.Pro404=) | |
20 | g.63407067G= | CA2374774401 | KCNQ2 | c.2250C= (p.Pro750=) c.2196C= (p.Pro732=) c.1593C= (p.Pro531=) c.2103C= (p.Pro701=) c.1764C= (p.Pro588=) c.2112C= (p.Pro704=) c.2220C= (p.Pro740=) c.2184C= (p.Pro728=) c.2142C= (p.Pro714=) c.1680-6224C= (n.1680-6224C=) c.2238C= (p.Pro746=) c.2304C= (p.Pro768=) c.2301C= (p.Pro767=) c.2274C= (p.Pro758=) c.2193C= (p.Pro731=) c.2178C= (p.Pro726=) c.1785C= (p.Pro595=) c.2247C= (p.Pro749=) c.2181C= (p.Pro727=) c.2139C= (p.Pro713=) c.1212C= (p.Pro404=) | |
20 | g.63407067G>T | CA511339491 | KCNQ2 | c.2250C>A (p.Pro750=) c.2196C>A (p.Pro732=) c.1593C>A (p.Pro531=) c.2103C>A (p.Pro701=) c.1764C>A (p.Pro588=) c.2112C>A (p.Pro704=) c.2220C>A (p.Pro740=) c.2184C>A (p.Pro728=) c.2142C>A (p.Pro714=) c.1680-6224C>A (n.1680-6224C>A) c.2238C>A (p.Pro746=) c.2304C>A (p.Pro768=) c.2301C>A (p.Pro767=) c.2274C>A (p.Pro758=) c.2193C>A (p.Pro731=) c.2178C>A (p.Pro726=) c.1785C>A (p.Pro595=) c.2247C>A (p.Pro749=) c.2181C>A (p.Pro727=) c.2139C>A (p.Pro713=) c.1212C>A (p.Pro404=) | gnomAD v4 |
20 | g.63407071del | CA2653805416 | KCNQ2 | c.2250del (p.Val751TrpfsTer?) c.2196del (p.Val733TrpfsTer?) c.1593del (p.Val532TrpfsTer?) c.2103del (p.Val702TrpfsTer?) c.1764del (p.Val589TrpfsTer?) c.2112del (p.Val705TrpfsTer?) c.2220del (p.Val741TrpfsTer?) c.2184del (p.Val729TrpfsTer?) c.2142del (p.Val715TrpfsTer?) c.1680-6224del (n.1680-6224del) c.2238del (p.Val747TrpfsTer?) c.2304del (p.Val769TrpfsTer?) c.2301del (p.Val768TrpfsTer?) c.2274del (p.Val759TrpfsTer?) c.2193del (p.Val732TrpfsTer?) c.2178del (p.Val727TrpfsTer?) c.1785del (p.Val596TrpfsTer?) c.2247del (p.Val750TrpfsTer?) c.2181del (p.Val728TrpfsTer?) c.2139del (p.Val714TrpfsTer?) c.1212del (p.Val405TrpfsTer?) | ClinVar gnomAD v4 |
20 | g.63407068G>A | CA409638583 | KCNQ2 | c.2249C>T (p.Pro750Leu) c.2195C>T (p.Pro732Leu) c.1592C>T (p.Pro531Leu) c.2102C>T (p.Pro701Leu) c.1763C>T (p.Pro588Leu) c.2111C>T (p.Pro704Leu) c.2219C>T (p.Pro740Leu) c.2183C>T (p.Pro728Leu) c.2141C>T (p.Pro714Leu) c.1680-6225C>T (n.1680-6225C>T) c.2237C>T (p.Pro746Leu) c.2303C>T (p.Pro768Leu) c.2300C>T (p.Pro767Leu) c.2273C>T (p.Pro758Leu) c.2192C>T (p.Pro731Leu) c.2177C>T (p.Pro726Leu) c.1784C>T (p.Pro595Leu) c.2246C>T (p.Pro749Leu) c.2180C>T (p.Pro727Leu) c.2138C>T (p.Pro713Leu) c.1211C>T (p.Pro404Leu) | gnomAD v4 |
20 | g.63407068G>C | CA409638586 | KCNQ2 | c.2249C>G (p.Pro750Arg) c.2195C>G (p.Pro732Arg) c.1592C>G (p.Pro531Arg) c.2102C>G (p.Pro701Arg) c.1763C>G (p.Pro588Arg) c.2111C>G (p.Pro704Arg) c.2219C>G (p.Pro740Arg) c.2183C>G (p.Pro728Arg) c.2141C>G (p.Pro714Arg) c.1680-6225C>G (n.1680-6225C>G) c.2237C>G (p.Pro746Arg) c.2303C>G (p.Pro768Arg) c.2300C>G (p.Pro767Arg) c.2273C>G (p.Pro758Arg) c.2192C>G (p.Pro731Arg) c.2177C>G (p.Pro726Arg) c.1784C>G (p.Pro595Arg) c.2246C>G (p.Pro749Arg) c.2180C>G (p.Pro727Arg) c.2138C>G (p.Pro713Arg) c.1211C>G (p.Pro404Arg) | |
20 | g.63407068G>T | CA409638590 | KCNQ2 | c.2249C>A (p.Pro750His) c.2195C>A (p.Pro732His) c.1592C>A (p.Pro531His) c.2102C>A (p.Pro701His) c.1763C>A (p.Pro588His) c.2111C>A (p.Pro704His) c.2219C>A (p.Pro740His) c.2183C>A (p.Pro728His) c.2141C>A (p.Pro714His) c.1680-6225C>A (n.1680-6225C>A) c.2237C>A (p.Pro746His) c.2303C>A (p.Pro768His) c.2300C>A (p.Pro767His) c.2273C>A (p.Pro758His) c.2192C>A (p.Pro731His) c.2177C>A (p.Pro726His) c.1784C>A (p.Pro595His) c.2246C>A (p.Pro749His) c.2180C>A (p.Pro727His) c.2138C>A (p.Pro713His) c.1211C>A (p.Pro404His) | gnomAD v4 |
20 | g.63407069G>A | CA9958129 | KCNQ2 | c.2248C>T (p.Pro750Ser) c.2194C>T (p.Pro732Ser) c.1591C>T (p.Pro531Ser) c.2101C>T (p.Pro701Ser) c.1762C>T (p.Pro588Ser) c.2110C>T (p.Pro704Ser) c.2218C>T (p.Pro740Ser) c.2182C>T (p.Pro728Ser) c.2140C>T (p.Pro714Ser) c.1680-6226C>T (n.1680-6226C>T) c.2236C>T (p.Pro746Ser) c.2302C>T (p.Pro768Ser) c.2299C>T (p.Pro767Ser) c.2272C>T (p.Pro758Ser) c.2191C>T (p.Pro731Ser) c.2176C>T (p.Pro726Ser) c.1783C>T (p.Pro595Ser) c.2245C>T (p.Pro749Ser) c.2179C>T (p.Pro727Ser) c.2137C>T (p.Pro713Ser) c.1210C>T (p.Pro404Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407069G>C | CA409638596 | KCNQ2 | c.2248C>G (p.Pro750Ala) c.2194C>G (p.Pro732Ala) c.1591C>G (p.Pro531Ala) c.2101C>G (p.Pro701Ala) c.1762C>G (p.Pro588Ala) c.2110C>G (p.Pro704Ala) c.2218C>G (p.Pro740Ala) c.2182C>G (p.Pro728Ala) c.2140C>G (p.Pro714Ala) c.1680-6226C>G (n.1680-6226C>G) c.2236C>G (p.Pro746Ala) c.2302C>G (p.Pro768Ala) c.2299C>G (p.Pro767Ala) c.2272C>G (p.Pro758Ala) c.2191C>G (p.Pro731Ala) c.2176C>G (p.Pro726Ala) c.1783C>G (p.Pro595Ala) c.2245C>G (p.Pro749Ala) c.2179C>G (p.Pro727Ala) c.2137C>G (p.Pro713Ala) c.1210C>G (p.Pro404Ala) | gnomAD v4 |
20 | g.63407069G= | CA2374774402 | KCNQ2 | c.2248C= (p.Pro750=) c.2194C= (p.Pro732=) c.1591C= (p.Pro531=) c.2101C= (p.Pro701=) c.1762C= (p.Pro588=) c.2110C= (p.Pro704=) c.2218C= (p.Pro740=) c.2182C= (p.Pro728=) c.2140C= (p.Pro714=) c.1680-6226C= (n.1680-6226C=) c.2236C= (p.Pro746=) c.2302C= (p.Pro768=) c.2299C= (p.Pro767=) c.2272C= (p.Pro758=) c.2191C= (p.Pro731=) c.2176C= (p.Pro726=) c.1783C= (p.Pro595=) c.2245C= (p.Pro749=) c.2179C= (p.Pro727=) c.2137C= (p.Pro713=) c.1210C= (p.Pro404=) | |
20 | g.63407069G>T | CA9958130 | KCNQ2 | c.2248C>A (p.Pro750Thr) c.2194C>A (p.Pro732Thr) c.1591C>A (p.Pro531Thr) c.2101C>A (p.Pro701Thr) c.1762C>A (p.Pro588Thr) c.2110C>A (p.Pro704Thr) c.2218C>A (p.Pro740Thr) c.2182C>A (p.Pro728Thr) c.2140C>A (p.Pro714Thr) c.1680-6226C>A (n.1680-6226C>A) c.2236C>A (p.Pro746Thr) c.2302C>A (p.Pro768Thr) c.2299C>A (p.Pro767Thr) c.2272C>A (p.Pro758Thr) c.2191C>A (p.Pro731Thr) c.2176C>A (p.Pro726Thr) c.1783C>A (p.Pro595Thr) c.2245C>A (p.Pro749Thr) c.2179C>A (p.Pro727Thr) c.2137C>A (p.Pro713Thr) c.1210C>A (p.Pro404Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63407070G>A | CA511339492 | KCNQ2 | c.2247C>T (p.Ser749=) c.2193C>T (p.Ser731=) c.1590C>T (p.Ser530=) c.2100C>T (p.Ser700=) c.1761C>T (p.Ser587=) c.2109C>T (p.Ser703=) c.2217C>T (p.Ser739=) c.2181C>T (p.Ser727=) c.2139C>T (p.Ser713=) c.1680-6227C>T (n.1680-6227C>T) c.2235C>T (p.Ser745=) c.2301C>T (p.Ser767=) c.2298C>T (p.Ser766=) c.2271C>T (p.Ser757=) c.2190C>T (p.Ser730=) c.2175C>T (p.Ser725=) c.1782C>T (p.Ser594=) c.2244C>T (p.Ser748=) c.2178C>T (p.Ser726=) c.2136C>T (p.Ser712=) c.1209C>T (p.Ser403=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407070G>C | CA511339493 | KCNQ2 | c.2247C>G (p.Ser749=) c.2193C>G (p.Ser731=) c.1590C>G (p.Ser530=) c.2100C>G (p.Ser700=) c.1761C>G (p.Ser587=) c.2109C>G (p.Ser703=) c.2217C>G (p.Ser739=) c.2181C>G (p.Ser727=) c.2139C>G (p.Ser713=) c.1680-6227C>G (n.1680-6227C>G) c.2235C>G (p.Ser745=) c.2301C>G (p.Ser767=) c.2298C>G (p.Ser766=) c.2271C>G (p.Ser757=) c.2190C>G (p.Ser730=) c.2175C>G (p.Ser725=) c.1782C>G (p.Ser594=) c.2244C>G (p.Ser748=) c.2178C>G (p.Ser726=) c.2136C>G (p.Ser712=) c.1209C>G (p.Ser403=) | |
20 | g.63407070G= | CA2374774403 | KCNQ2 | c.2247C= (p.Ser749=) c.2193C= (p.Ser731=) c.1590C= (p.Ser530=) c.2100C= (p.Ser700=) c.1761C= (p.Ser587=) c.2109C= (p.Ser703=) c.2217C= (p.Ser739=) c.2181C= (p.Ser727=) c.2139C= (p.Ser713=) c.1680-6227C= (n.1680-6227C=) c.2235C= (p.Ser745=) c.2301C= (p.Ser767=) c.2298C= (p.Ser766=) c.2271C= (p.Ser757=) c.2190C= (p.Ser730=) c.2175C= (p.Ser725=) c.1782C= (p.Ser594=) c.2244C= (p.Ser748=) c.2178C= (p.Ser726=) c.2136C= (p.Ser712=) c.1209C= (p.Ser403=) | |
20 | g.63407070G>T | CA511339494 | KCNQ2 | c.2247C>A (p.Ser749=) c.2193C>A (p.Ser731=) c.1590C>A (p.Ser530=) c.2100C>A (p.Ser700=) c.1761C>A (p.Ser587=) c.2109C>A (p.Ser703=) c.2217C>A (p.Ser739=) c.2181C>A (p.Ser727=) c.2139C>A (p.Ser713=) c.1680-6227C>A (n.1680-6227C>A) c.2235C>A (p.Ser745=) c.2301C>A (p.Ser767=) c.2298C>A (p.Ser766=) c.2271C>A (p.Ser757=) c.2190C>A (p.Ser730=) c.2175C>A (p.Ser725=) c.1782C>A (p.Ser594=) c.2244C>A (p.Ser748=) c.2178C>A (p.Ser726=) c.2136C>A (p.Ser712=) c.1209C>A (p.Ser403=) | gnomAD v4 |
20 | g.63407071G>A | CA409638608 | KCNQ2 | c.2246C>T (p.Ser749Phe) c.2192C>T (p.Ser731Phe) c.1589C>T (p.Ser530Phe) c.2099C>T (p.Ser700Phe) c.1760C>T (p.Ser587Phe) c.2108C>T (p.Ser703Phe) c.2216C>T (p.Ser739Phe) c.2180C>T (p.Ser727Phe) c.2138C>T (p.Ser713Phe) c.1680-6228C>T (n.1680-6228C>T) c.2234C>T (p.Ser745Phe) c.2300C>T (p.Ser767Phe) c.2297C>T (p.Ser766Phe) c.2270C>T (p.Ser757Phe) c.2189C>T (p.Ser730Phe) c.2174C>T (p.Ser725Phe) c.1781C>T (p.Ser594Phe) c.2243C>T (p.Ser748Phe) c.2177C>T (p.Ser726Phe) c.2135C>T (p.Ser712Phe) c.1208C>T (p.Ser403Phe) | |
20 | g.63407071G>C | CA409638602 | KCNQ2 | c.2246C>G (p.Ser749Cys) c.2192C>G (p.Ser731Cys) c.1589C>G (p.Ser530Cys) c.2099C>G (p.Ser700Cys) c.1760C>G (p.Ser587Cys) c.2108C>G (p.Ser703Cys) c.2216C>G (p.Ser739Cys) c.2180C>G (p.Ser727Cys) c.2138C>G (p.Ser713Cys) c.1680-6228C>G (n.1680-6228C>G) c.2234C>G (p.Ser745Cys) c.2300C>G (p.Ser767Cys) c.2297C>G (p.Ser766Cys) c.2270C>G (p.Ser757Cys) c.2189C>G (p.Ser730Cys) c.2174C>G (p.Ser725Cys) c.1781C>G (p.Ser594Cys) c.2243C>G (p.Ser748Cys) c.2177C>G (p.Ser726Cys) c.2135C>G (p.Ser712Cys) c.1208C>G (p.Ser403Cys) | |
20 | g.63407071G>T | CA409638605 | KCNQ2 | c.2246C>A (p.Ser749Tyr) c.2192C>A (p.Ser731Tyr) c.1589C>A (p.Ser530Tyr) c.2099C>A (p.Ser700Tyr) c.1760C>A (p.Ser587Tyr) c.2108C>A (p.Ser703Tyr) c.2216C>A (p.Ser739Tyr) c.2180C>A (p.Ser727Tyr) c.2138C>A (p.Ser713Tyr) c.1680-6228C>A (n.1680-6228C>A) c.2234C>A (p.Ser745Tyr) c.2300C>A (p.Ser767Tyr) c.2297C>A (p.Ser766Tyr) c.2270C>A (p.Ser757Tyr) c.2189C>A (p.Ser730Tyr) c.2174C>A (p.Ser725Tyr) c.1781C>A (p.Ser594Tyr) c.2243C>A (p.Ser748Tyr) c.2177C>A (p.Ser726Tyr) c.2135C>A (p.Ser712Tyr) c.1208C>A (p.Ser403Tyr) | gnomAD v4 |
20 | g.63407072A= | CA2374774404 | KCNQ2 | c.2245T= (p.Ser749=) c.2191T= (p.Ser731=) c.1588T= (p.Ser530=) c.2098T= (p.Ser700=) c.1759T= (p.Ser587=) c.2107T= (p.Ser703=) c.2215T= (p.Ser739=) c.2179T= (p.Ser727=) c.2137T= (p.Ser713=) c.1680-6229T= (n.1680-6229T=) c.2233T= (p.Ser745=) c.2299T= (p.Ser767=) c.2296T= (p.Ser766=) c.2269T= (p.Ser757=) c.2188T= (p.Ser730=) c.2173T= (p.Ser725=) c.1780T= (p.Ser594=) c.2242T= (p.Ser748=) c.2176T= (p.Ser726=) c.2134T= (p.Ser712=) c.1207T= (p.Ser403=) | |
20 | g.63407072A>C | CA409638612 | KCNQ2 | c.2245T>G (p.Ser749Ala) c.2191T>G (p.Ser731Ala) c.1588T>G (p.Ser530Ala) c.2098T>G (p.Ser700Ala) c.1759T>G (p.Ser587Ala) c.2107T>G (p.Ser703Ala) c.2215T>G (p.Ser739Ala) c.2179T>G (p.Ser727Ala) c.2137T>G (p.Ser713Ala) c.1680-6229T>G (n.1680-6229T>G) c.2233T>G (p.Ser745Ala) c.2299T>G (p.Ser767Ala) c.2296T>G (p.Ser766Ala) c.2269T>G (p.Ser757Ala) c.2188T>G (p.Ser730Ala) c.2173T>G (p.Ser725Ala) c.1780T>G (p.Ser594Ala) c.2242T>G (p.Ser748Ala) c.2176T>G (p.Ser726Ala) c.2134T>G (p.Ser712Ala) c.1207T>G (p.Ser403Ala) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63407072A>G | CA409638614 | KCNQ2 | c.2245T>C (p.Ser749Pro) c.2191T>C (p.Ser731Pro) c.1588T>C (p.Ser530Pro) c.2098T>C (p.Ser700Pro) c.1759T>C (p.Ser587Pro) c.2107T>C (p.Ser703Pro) c.2215T>C (p.Ser739Pro) c.2179T>C (p.Ser727Pro) c.2137T>C (p.Ser713Pro) c.1680-6229T>C (n.1680-6229T>C) c.2233T>C (p.Ser745Pro) c.2299T>C (p.Ser767Pro) c.2296T>C (p.Ser766Pro) c.2269T>C (p.Ser757Pro) c.2188T>C (p.Ser730Pro) c.2173T>C (p.Ser725Pro) c.1780T>C (p.Ser594Pro) c.2242T>C (p.Ser748Pro) c.2176T>C (p.Ser726Pro) c.2134T>C (p.Ser712Pro) c.1207T>C (p.Ser403Pro) | gnomAD v4 |
20 | g.63407072A>T | CA409638616 | KCNQ2 | c.2245T>A (p.Ser749Thr) c.2191T>A (p.Ser731Thr) c.1588T>A (p.Ser530Thr) c.2098T>A (p.Ser700Thr) c.1759T>A (p.Ser587Thr) c.2107T>A (p.Ser703Thr) c.2215T>A (p.Ser739Thr) c.2179T>A (p.Ser727Thr) c.2137T>A (p.Ser713Thr) c.1680-6229T>A (n.1680-6229T>A) c.2233T>A (p.Ser745Thr) c.2299T>A (p.Ser767Thr) c.2296T>A (p.Ser766Thr) c.2269T>A (p.Ser757Thr) c.2188T>A (p.Ser730Thr) c.2173T>A (p.Ser725Thr) c.1780T>A (p.Ser594Thr) c.2242T>A (p.Ser748Thr) c.2176T>A (p.Ser726Thr) c.2134T>A (p.Ser712Thr) c.1207T>A (p.Ser403Thr) | gnomAD v4 |
20 | g.63407073G>A | CA9958131 | KCNQ2 | c.2244C>T (p.Thr748=) c.2190C>T (p.Thr730=) c.1587C>T (p.Thr529=) c.2097C>T (p.Thr699=) c.1758C>T (p.Thr586=) c.2106C>T (p.Thr702=) c.2214C>T (p.Thr738=) c.2178C>T (p.Thr726=) c.2136C>T (p.Thr712=) c.1680-6230C>T (n.1680-6230C>T) c.2232C>T (p.Thr744=) c.2298C>T (p.Thr766=) c.2295C>T (p.Thr765=) c.2268C>T (p.Thr756=) c.2187C>T (p.Thr729=) c.2172C>T (p.Thr724=) c.1779C>T (p.Thr593=) c.2241C>T (p.Thr747=) c.2175C>T (p.Thr725=) c.2133C>T (p.Thr711=) c.1206C>T (p.Thr402=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63407073G>C | CA511339495 | KCNQ2 | c.2244C>G (p.Thr748=) c.2190C>G (p.Thr730=) c.1587C>G (p.Thr529=) c.2097C>G (p.Thr699=) c.1758C>G (p.Thr586=) c.2106C>G (p.Thr702=) c.2214C>G (p.Thr738=) c.2178C>G (p.Thr726=) c.2136C>G (p.Thr712=) c.1680-6230C>G (n.1680-6230C>G) c.2232C>G (p.Thr744=) c.2298C>G (p.Thr766=) c.2295C>G (p.Thr765=) c.2268C>G (p.Thr756=) c.2187C>G (p.Thr729=) c.2172C>G (p.Thr724=) c.1779C>G (p.Thr593=) c.2241C>G (p.Thr747=) c.2175C>G (p.Thr725=) c.2133C>G (p.Thr711=) c.1206C>G (p.Thr402=) | |
20 | g.63407073G= | CA2374774405 | KCNQ2 | c.2244C= (p.Thr748=) c.2190C= (p.Thr730=) c.1587C= (p.Thr529=) c.2097C= (p.Thr699=) c.1758C= (p.Thr586=) c.2106C= (p.Thr702=) c.2214C= (p.Thr738=) c.2178C= (p.Thr726=) c.2136C= (p.Thr712=) c.1680-6230C= (n.1680-6230C=) c.2232C= (p.Thr744=) c.2298C= (p.Thr766=) c.2295C= (p.Thr765=) c.2268C= (p.Thr756=) c.2187C= (p.Thr729=) c.2172C= (p.Thr724=) c.1779C= (p.Thr593=) c.2241C= (p.Thr747=) c.2175C= (p.Thr725=) c.2133C= (p.Thr711=) c.1206C= (p.Thr402=) | |
20 | g.63407073G>T | CA511339496 | KCNQ2 | c.2244C>A (p.Thr748=) c.2190C>A (p.Thr730=) c.1587C>A (p.Thr529=) c.2097C>A (p.Thr699=) c.1758C>A (p.Thr586=) c.2106C>A (p.Thr702=) c.2214C>A (p.Thr738=) c.2178C>A (p.Thr726=) c.2136C>A (p.Thr712=) c.1680-6230C>A (n.1680-6230C>A) c.2232C>A (p.Thr744=) c.2298C>A (p.Thr766=) c.2295C>A (p.Thr765=) c.2268C>A (p.Thr756=) c.2187C>A (p.Thr729=) c.2172C>A (p.Thr724=) c.1779C>A (p.Thr593=) c.2241C>A (p.Thr747=) c.2175C>A (p.Thr725=) c.2133C>A (p.Thr711=) c.1206C>A (p.Thr402=) | gnomAD v4 |
20 | g.63407074G>A | CA409638623 | KCNQ2 | c.2243C>T (p.Thr748Ile) c.2189C>T (p.Thr730Ile) c.1586C>T (p.Thr529Ile) c.2096C>T (p.Thr699Ile) c.1757C>T (p.Thr586Ile) c.2105C>T (p.Thr702Ile) c.2213C>T (p.Thr738Ile) c.2177C>T (p.Thr726Ile) c.2135C>T (p.Thr712Ile) c.1680-6231C>T (n.1680-6231C>T) c.2231C>T (p.Thr744Ile) c.2297C>T (p.Thr766Ile) c.2294C>T (p.Thr765Ile) c.2267C>T (p.Thr756Ile) c.2186C>T (p.Thr729Ile) c.2171C>T (p.Thr724Ile) c.1778C>T (p.Thr593Ile) c.2240C>T (p.Thr747Ile) c.2174C>T (p.Thr725Ile) c.2132C>T (p.Thr711Ile) c.1205C>T (p.Thr402Ile) | gnomAD v4 |
20 | g.63407074G>C | CA409638626 | KCNQ2 | c.2243C>G (p.Thr748Ser) c.2189C>G (p.Thr730Ser) c.1586C>G (p.Thr529Ser) c.2096C>G (p.Thr699Ser) c.1757C>G (p.Thr586Ser) c.2105C>G (p.Thr702Ser) c.2213C>G (p.Thr738Ser) c.2177C>G (p.Thr726Ser) c.2135C>G (p.Thr712Ser) c.1680-6231C>G (n.1680-6231C>G) c.2231C>G (p.Thr744Ser) c.2297C>G (p.Thr766Ser) c.2294C>G (p.Thr765Ser) c.2267C>G (p.Thr756Ser) c.2186C>G (p.Thr729Ser) c.2171C>G (p.Thr724Ser) c.1778C>G (p.Thr593Ser) c.2240C>G (p.Thr747Ser) c.2174C>G (p.Thr725Ser) c.2132C>G (p.Thr711Ser) c.1205C>G (p.Thr402Ser) | |
20 | g.63407074G>T | CA409638630 | KCNQ2 | c.2243C>A (p.Thr748Asn) c.2189C>A (p.Thr730Asn) c.1586C>A (p.Thr529Asn) c.2096C>A (p.Thr699Asn) c.1757C>A (p.Thr586Asn) c.2105C>A (p.Thr702Asn) c.2213C>A (p.Thr738Asn) c.2177C>A (p.Thr726Asn) c.2135C>A (p.Thr712Asn) c.1680-6231C>A (n.1680-6231C>A) c.2231C>A (p.Thr744Asn) c.2297C>A (p.Thr766Asn) c.2294C>A (p.Thr765Asn) c.2267C>A (p.Thr756Asn) c.2186C>A (p.Thr729Asn) c.2171C>A (p.Thr724Asn) c.1778C>A (p.Thr593Asn) c.2240C>A (p.Thr747Asn) c.2174C>A (p.Thr725Asn) c.2132C>A (p.Thr711Asn) c.1205C>A (p.Thr402Asn) | gnomAD v4 |
20 | g.63407075T>A | CA409638633 | KCNQ2 | c.2242A>T (p.Thr748Ser) c.2188A>T (p.Thr730Ser) c.1585A>T (p.Thr529Ser) c.2095A>T (p.Thr699Ser) c.1756A>T (p.Thr586Ser) c.2104A>T (p.Thr702Ser) c.2212A>T (p.Thr738Ser) c.2176A>T (p.Thr726Ser) c.2134A>T (p.Thr712Ser) c.1680-6232A>T (n.1680-6232A>T) c.2230A>T (p.Thr744Ser) c.2296A>T (p.Thr766Ser) c.2293A>T (p.Thr765Ser) c.2266A>T (p.Thr756Ser) c.2185A>T (p.Thr729Ser) c.2170A>T (p.Thr724Ser) c.1777A>T (p.Thr593Ser) c.2239A>T (p.Thr747Ser) c.2173A>T (p.Thr725Ser) c.2131A>T (p.Thr711Ser) c.1204A>T (p.Thr402Ser) | |
20 | g.63407075T>C | CA409638636 | KCNQ2 | c.2242A>G (p.Thr748Ala) c.2188A>G (p.Thr730Ala) c.1585A>G (p.Thr529Ala) c.2095A>G (p.Thr699Ala) c.1756A>G (p.Thr586Ala) c.2104A>G (p.Thr702Ala) c.2212A>G (p.Thr738Ala) c.2176A>G (p.Thr726Ala) c.2134A>G (p.Thr712Ala) c.1680-6232A>G (n.1680-6232A>G) c.2230A>G (p.Thr744Ala) c.2296A>G (p.Thr766Ala) c.2293A>G (p.Thr765Ala) c.2266A>G (p.Thr756Ala) c.2185A>G (p.Thr729Ala) c.2170A>G (p.Thr724Ala) c.1777A>G (p.Thr593Ala) c.2239A>G (p.Thr747Ala) c.2173A>G (p.Thr725Ala) c.2131A>G (p.Thr711Ala) c.1204A>G (p.Thr402Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.63407075T>G | CA409638639 | KCNQ2 | c.2242A>C (p.Thr748Pro) c.2188A>C (p.Thr730Pro) c.1585A>C (p.Thr529Pro) c.2095A>C (p.Thr699Pro) c.1756A>C (p.Thr586Pro) c.2104A>C (p.Thr702Pro) c.2212A>C (p.Thr738Pro) c.2176A>C (p.Thr726Pro) c.2134A>C (p.Thr712Pro) c.1680-6232A>C (n.1680-6232A>C) c.2230A>C (p.Thr744Pro) c.2296A>C (p.Thr766Pro) c.2293A>C (p.Thr765Pro) c.2266A>C (p.Thr756Pro) c.2185A>C (p.Thr729Pro) c.2170A>C (p.Thr724Pro) c.1777A>C (p.Thr593Pro) c.2239A>C (p.Thr747Pro) c.2173A>C (p.Thr725Pro) c.2131A>C (p.Thr711Pro) c.1204A>C (p.Thr402Pro) | |
20 | g.63407075T= | CA2374774406 | KCNQ2 | c.2242A= (p.Thr748=) c.2188A= (p.Thr730=) c.1585A= (p.Thr529=) c.2095A= (p.Thr699=) c.1756A= (p.Thr586=) c.2104A= (p.Thr702=) c.2212A= (p.Thr738=) c.2176A= (p.Thr726=) c.2134A= (p.Thr712=) c.1680-6232A= (n.1680-6232A=) c.2230A= (p.Thr744=) c.2296A= (p.Thr766=) c.2293A= (p.Thr765=) c.2266A= (p.Thr756=) c.2185A= (p.Thr729=) c.2170A= (p.Thr724=) c.1777A= (p.Thr593=) c.2239A= (p.Thr747=) c.2173A= (p.Thr725=) c.2131A= (p.Thr711=) c.1204A= (p.Thr402=) | |
20 | g.63407076G>A | CA511339497 | KCNQ2 | c.2241C>T (p.Gly747=) c.2187C>T (p.Gly729=) c.1584C>T (p.Gly528=) c.2094C>T (p.Gly698=) c.1755C>T (p.Gly585=) c.2103C>T (p.Gly701=) c.2211C>T (p.Gly737=) c.2175C>T (p.Gly725=) c.2133C>T (p.Gly711=) c.1680-6233C>T (n.1680-6233C>T) c.2229C>T (p.Gly743=) c.2295C>T (p.Gly765=) c.2292C>T (p.Gly764=) c.2265C>T (p.Gly755=) c.2184C>T (p.Gly728=) c.2169C>T (p.Gly723=) c.1776C>T (p.Gly592=) c.2238C>T (p.Gly746=) c.2172C>T (p.Gly724=) c.2130C>T (p.Gly710=) c.1203C>T (p.Gly401=) | gnomAD v4 |
20 | g.63407076G>C | CA511339499 | KCNQ2 | c.2241C>G (p.Gly747=) c.2187C>G (p.Gly729=) c.1584C>G (p.Gly528=) c.2094C>G (p.Gly698=) c.1755C>G (p.Gly585=) c.2103C>G (p.Gly701=) c.2211C>G (p.Gly737=) c.2175C>G (p.Gly725=) c.2133C>G (p.Gly711=) c.1680-6233C>G (n.1680-6233C>G) c.2229C>G (p.Gly743=) c.2295C>G (p.Gly765=) c.2292C>G (p.Gly764=) c.2265C>G (p.Gly755=) c.2184C>G (p.Gly728=) c.2169C>G (p.Gly723=) c.1776C>G (p.Gly592=) c.2238C>G (p.Gly746=) c.2172C>G (p.Gly724=) c.2130C>G (p.Gly710=) c.1203C>G (p.Gly401=) | |
20 | g.63407076G>T | CA511339498 | KCNQ2 | c.2241C>A (p.Gly747=) c.2187C>A (p.Gly729=) c.1584C>A (p.Gly528=) c.2094C>A (p.Gly698=) c.1755C>A (p.Gly585=) c.2103C>A (p.Gly701=) c.2211C>A (p.Gly737=) c.2175C>A (p.Gly725=) c.2133C>A (p.Gly711=) c.1680-6233C>A (n.1680-6233C>A) c.2229C>A (p.Gly743=) c.2295C>A (p.Gly765=) c.2292C>A (p.Gly764=) c.2265C>A (p.Gly755=) c.2184C>A (p.Gly728=) c.2169C>A (p.Gly723=) c.1776C>A (p.Gly592=) c.2238C>A (p.Gly746=) c.2172C>A (p.Gly724=) c.2130C>A (p.Gly710=) c.1203C>A (p.Gly401=) | gnomAD v4 |
20 | g.63407077C>A | CA409638642 | KCNQ2 | c.2240G>T (p.Gly747Val) c.2186G>T (p.Gly729Val) c.1583G>T (p.Gly528Val) c.2093G>T (p.Gly698Val) c.1754G>T (p.Gly585Val) c.2102G>T (p.Gly701Val) c.2210G>T (p.Gly737Val) c.2174G>T (p.Gly725Val) c.2132G>T (p.Gly711Val) c.1680-6234G>T (n.1680-6234G>T) c.2228G>T (p.Gly743Val) c.2294G>T (p.Gly765Val) c.2291G>T (p.Gly764Val) c.2264G>T (p.Gly755Val) c.2183G>T (p.Gly728Val) c.2168G>T (p.Gly723Val) c.1775G>T (p.Gly592Val) c.2237G>T (p.Gly746Val) c.2171G>T (p.Gly724Val) c.2129G>T (p.Gly710Val) c.1202G>T (p.Gly401Val) | gnomAD v4 |
20 | g.63407077C>G | CA409638644 | KCNQ2 | c.2240G>C (p.Gly747Ala) c.2186G>C (p.Gly729Ala) c.1583G>C (p.Gly528Ala) c.2093G>C (p.Gly698Ala) c.1754G>C (p.Gly585Ala) c.2102G>C (p.Gly701Ala) c.2210G>C (p.Gly737Ala) c.2174G>C (p.Gly725Ala) c.2132G>C (p.Gly711Ala) c.1680-6234G>C (n.1680-6234G>C) c.2228G>C (p.Gly743Ala) c.2294G>C (p.Gly765Ala) c.2291G>C (p.Gly764Ala) c.2264G>C (p.Gly755Ala) c.2183G>C (p.Gly728Ala) c.2168G>C (p.Gly723Ala) c.1775G>C (p.Gly592Ala) c.2237G>C (p.Gly746Ala) c.2171G>C (p.Gly724Ala) c.2129G>C (p.Gly710Ala) c.1202G>C (p.Gly401Ala) | |
20 | g.63407077C>T | CA409638647 | KCNQ2 | c.2240G>A (p.Gly747Asp) c.2186G>A (p.Gly729Asp) c.1583G>A (p.Gly528Asp) c.2093G>A (p.Gly698Asp) c.1754G>A (p.Gly585Asp) c.2102G>A (p.Gly701Asp) c.2210G>A (p.Gly737Asp) c.2174G>A (p.Gly725Asp) c.2132G>A (p.Gly711Asp) c.1680-6234G>A (n.1680-6234G>A) c.2228G>A (p.Gly743Asp) c.2294G>A (p.Gly765Asp) c.2291G>A (p.Gly764Asp) c.2264G>A (p.Gly755Asp) c.2183G>A (p.Gly728Asp) c.2168G>A (p.Gly723Asp) c.1775G>A (p.Gly592Asp) c.2237G>A (p.Gly746Asp) c.2171G>A (p.Gly724Asp) c.2129G>A (p.Gly710Asp) c.1202G>A (p.Gly401Asp) | gnomAD v4 |
20 | g.63407078C>A | CA409638655 | KCNQ2 | c.2239G>T (p.Gly747Cys) c.2185G>T (p.Gly729Cys) c.1582G>T (p.Gly528Cys) c.2092G>T (p.Gly698Cys) c.1753G>T (p.Gly585Cys) c.2101G>T (p.Gly701Cys) c.2209G>T (p.Gly737Cys) c.2173G>T (p.Gly725Cys) c.2131G>T (p.Gly711Cys) c.1680-6235G>T (n.1680-6235G>T) c.2227G>T (p.Gly743Cys) c.2293G>T (p.Gly765Cys) c.2290G>T (p.Gly764Cys) c.2263G>T (p.Gly755Cys) c.2182G>T (p.Gly728Cys) c.2167G>T (p.Gly723Cys) c.1774G>T (p.Gly592Cys) c.2236G>T (p.Gly746Cys) c.2170G>T (p.Gly724Cys) c.2128G>T (p.Gly710Cys) c.1201G>T (p.Gly401Cys) | gnomAD v4 |
20 | g.63407078C= | CA2374774407 | KCNQ2 | c.2239G= (p.Gly747=) c.2185G= (p.Gly729=) c.1582G= (p.Gly528=) c.2092G= (p.Gly698=) c.1753G= (p.Gly585=) c.2101G= (p.Gly701=) c.2209G= (p.Gly737=) c.2173G= (p.Gly725=) c.2131G= (p.Gly711=) c.1680-6235G= (n.1680-6235G=) c.2227G= (p.Gly743=) c.2293G= (p.Gly765=) c.2290G= (p.Gly764=) c.2263G= (p.Gly755=) c.2182G= (p.Gly728=) c.2167G= (p.Gly723=) c.1774G= (p.Gly592=) c.2236G= (p.Gly746=) c.2170G= (p.Gly724=) c.2128G= (p.Gly710=) c.1201G= (p.Gly401=) | |
20 | g.63407078C>G | CA409638652 | KCNQ2 | c.2239G>C (p.Gly747Arg) c.2185G>C (p.Gly729Arg) c.1582G>C (p.Gly528Arg) c.2092G>C (p.Gly698Arg) c.1753G>C (p.Gly585Arg) c.2101G>C (p.Gly701Arg) c.2209G>C (p.Gly737Arg) c.2173G>C (p.Gly725Arg) c.2131G>C (p.Gly711Arg) c.1680-6235G>C (n.1680-6235G>C) c.2227G>C (p.Gly743Arg) c.2293G>C (p.Gly765Arg) c.2290G>C (p.Gly764Arg) c.2263G>C (p.Gly755Arg) c.2182G>C (p.Gly728Arg) c.2167G>C (p.Gly723Arg) c.1774G>C (p.Gly592Arg) c.2236G>C (p.Gly746Arg) c.2170G>C (p.Gly724Arg) c.2128G>C (p.Gly710Arg) c.1201G>C (p.Gly401Arg) | |
20 | g.63407078C>T | CA317422158 | KCNQ2 | c.2239G>A (p.Gly747Ser) c.2185G>A (p.Gly729Ser) c.1582G>A (p.Gly528Ser) c.2092G>A (p.Gly698Ser) c.1753G>A (p.Gly585Ser) c.2101G>A (p.Gly701Ser) c.2209G>A (p.Gly737Ser) c.2173G>A (p.Gly725Ser) c.2131G>A (p.Gly711Ser) c.1680-6235G>A (n.1680-6235G>A) c.2227G>A (p.Gly743Ser) c.2293G>A (p.Gly765Ser) c.2290G>A (p.Gly764Ser) c.2263G>A (p.Gly755Ser) c.2182G>A (p.Gly728Ser) c.2167G>A (p.Gly723Ser) c.1774G>A (p.Gly592Ser) c.2236G>A (p.Gly746Ser) c.2170G>A (p.Gly724Ser) c.2128G>A (p.Gly710Ser) c.1201G>A (p.Gly401Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407079G>A | CA9958132 | KCNQ2 | c.2238C>T (p.His746=) c.2184C>T (p.His728=) c.1581C>T (p.His527=) c.2091C>T (p.His697=) c.1752C>T (p.His584=) c.2100C>T (p.His700=) c.2208C>T (p.His736=) c.2172C>T (p.His724=) c.2130C>T (p.His710=) c.1680-6236C>T (n.1680-6236C>T) c.2226C>T (p.His742=) c.2292C>T (p.His764=) c.2289C>T (p.His763=) c.2262C>T (p.His754=) c.2181C>T (p.His727=) c.2166C>T (p.His722=) c.1773C>T (p.His591=) c.2235C>T (p.His745=) c.2169C>T (p.His723=) c.2127C>T (p.His709=) c.1200C>T (p.His400=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407079G>C | CA409638665 | KCNQ2 | c.2238C>G (p.His746Gln) c.2184C>G (p.His728Gln) c.1581C>G (p.His527Gln) c.2091C>G (p.His697Gln) c.1752C>G (p.His584Gln) c.2100C>G (p.His700Gln) c.2208C>G (p.His736Gln) c.2172C>G (p.His724Gln) c.2130C>G (p.His710Gln) c.1680-6236C>G (n.1680-6236C>G) c.2226C>G (p.His742Gln) c.2292C>G (p.His764Gln) c.2289C>G (p.His763Gln) c.2262C>G (p.His754Gln) c.2181C>G (p.His727Gln) c.2166C>G (p.His722Gln) c.1773C>G (p.His591Gln) c.2235C>G (p.His745Gln) c.2169C>G (p.His723Gln) c.2127C>G (p.His709Gln) c.1200C>G (p.His400Gln) | gnomAD v2 gnomAD v4 |
20 | g.63407079G= | CA2374774408 | KCNQ2 | c.2238C= (p.His746=) c.2184C= (p.His728=) c.1581C= (p.His527=) c.2091C= (p.His697=) c.1752C= (p.His584=) c.2100C= (p.His700=) c.2208C= (p.His736=) c.2172C= (p.His724=) c.2130C= (p.His710=) c.1680-6236C= (n.1680-6236C=) c.2226C= (p.His742=) c.2292C= (p.His764=) c.2289C= (p.His763=) c.2262C= (p.His754=) c.2181C= (p.His727=) c.2166C= (p.His722=) c.1773C= (p.His591=) c.2235C= (p.His745=) c.2169C= (p.His723=) c.2127C= (p.His709=) c.1200C= (p.His400=) | |
20 | g.63407079G>T | CA409638662 | KCNQ2 | c.2238C>A (p.His746Gln) c.2184C>A (p.His728Gln) c.1581C>A (p.His527Gln) c.2091C>A (p.His697Gln) c.1752C>A (p.His584Gln) c.2100C>A (p.His700Gln) c.2208C>A (p.His736Gln) c.2172C>A (p.His724Gln) c.2130C>A (p.His710Gln) c.1680-6236C>A (n.1680-6236C>A) c.2226C>A (p.His742Gln) c.2292C>A (p.His764Gln) c.2289C>A (p.His763Gln) c.2262C>A (p.His754Gln) c.2181C>A (p.His727Gln) c.2166C>A (p.His722Gln) c.1773C>A (p.His591Gln) c.2235C>A (p.His745Gln) c.2169C>A (p.His723Gln) c.2127C>A (p.His709Gln) c.1200C>A (p.His400Gln) | gnomAD v4 |
20 | g.63407080T>A | CA409638668 | KCNQ2 | c.2237A>T (p.His746Leu) c.2183A>T (p.His728Leu) c.1580A>T (p.His527Leu) c.2090A>T (p.His697Leu) c.1751A>T (p.His584Leu) c.2099A>T (p.His700Leu) c.2207A>T (p.His736Leu) c.2171A>T (p.His724Leu) c.2129A>T (p.His710Leu) c.1680-6237A>T (n.1680-6237A>T) c.2225A>T (p.His742Leu) c.2291A>T (p.His764Leu) c.2288A>T (p.His763Leu) c.2261A>T (p.His754Leu) c.2180A>T (p.His727Leu) c.2165A>T (p.His722Leu) c.1772A>T (p.His591Leu) c.2234A>T (p.His745Leu) c.2168A>T (p.His723Leu) c.2126A>T (p.His709Leu) c.1199A>T (p.His400Leu) | |
20 | g.63407080T>C | CA409638673 | KCNQ2 | c.2237A>G (p.His746Arg) c.2183A>G (p.His728Arg) c.1580A>G (p.His527Arg) c.2090A>G (p.His697Arg) c.1751A>G (p.His584Arg) c.2099A>G (p.His700Arg) c.2207A>G (p.His736Arg) c.2171A>G (p.His724Arg) c.2129A>G (p.His710Arg) c.1680-6237A>G (n.1680-6237A>G) c.2225A>G (p.His742Arg) c.2291A>G (p.His764Arg) c.2288A>G (p.His763Arg) c.2261A>G (p.His754Arg) c.2180A>G (p.His727Arg) c.2165A>G (p.His722Arg) c.1772A>G (p.His591Arg) c.2234A>G (p.His745Arg) c.2168A>G (p.His723Arg) c.2126A>G (p.His709Arg) c.1199A>G (p.His400Arg) | |
20 | g.63407080T>G | CA409638671 | KCNQ2 | c.2237A>C (p.His746Pro) c.2183A>C (p.His728Pro) c.1580A>C (p.His527Pro) c.2090A>C (p.His697Pro) c.1751A>C (p.His584Pro) c.2099A>C (p.His700Pro) c.2207A>C (p.His736Pro) c.2171A>C (p.His724Pro) c.2129A>C (p.His710Pro) c.1680-6237A>C (n.1680-6237A>C) c.2225A>C (p.His742Pro) c.2291A>C (p.His764Pro) c.2288A>C (p.His763Pro) c.2261A>C (p.His754Pro) c.2180A>C (p.His727Pro) c.2165A>C (p.His722Pro) c.1772A>C (p.His591Pro) c.2234A>C (p.His745Pro) c.2168A>C (p.His723Pro) c.2126A>C (p.His709Pro) c.1199A>C (p.His400Pro) | |
20 | g.63407081G>A | CA409638675 | KCNQ2 | c.2236C>T (p.His746Tyr) c.2182C>T (p.His728Tyr) c.1579C>T (p.His527Tyr) c.2089C>T (p.His697Tyr) c.1750C>T (p.His584Tyr) c.2098C>T (p.His700Tyr) c.2206C>T (p.His736Tyr) c.2170C>T (p.His724Tyr) c.2128C>T (p.His710Tyr) c.1680-6238C>T (n.1680-6238C>T) c.2224C>T (p.His742Tyr) c.2290C>T (p.His764Tyr) c.2287C>T (p.His763Tyr) c.2260C>T (p.His754Tyr) c.2179C>T (p.His727Tyr) c.2164C>T (p.His722Tyr) c.1771C>T (p.His591Tyr) c.2233C>T (p.His745Tyr) c.2167C>T (p.His723Tyr) c.2125C>T (p.His709Tyr) c.1198C>T (p.His400Tyr) | |
20 | g.63407081G>C | CA409638678 | KCNQ2 | c.2236C>G (p.His746Asp) c.2182C>G (p.His728Asp) c.1579C>G (p.His527Asp) c.2089C>G (p.His697Asp) c.1750C>G (p.His584Asp) c.2098C>G (p.His700Asp) c.2206C>G (p.His736Asp) c.2170C>G (p.His724Asp) c.2128C>G (p.His710Asp) c.1680-6238C>G (n.1680-6238C>G) c.2224C>G (p.His742Asp) c.2290C>G (p.His764Asp) c.2287C>G (p.His763Asp) c.2260C>G (p.His754Asp) c.2179C>G (p.His727Asp) c.2164C>G (p.His722Asp) c.1771C>G (p.His591Asp) c.2233C>G (p.His745Asp) c.2167C>G (p.His723Asp) c.2125C>G (p.His709Asp) c.1198C>G (p.His400Asp) | |
20 | g.63407081G>T | CA409638681 | KCNQ2 | c.2236C>A (p.His746Asn) c.2182C>A (p.His728Asn) c.1579C>A (p.His527Asn) c.2089C>A (p.His697Asn) c.1750C>A (p.His584Asn) c.2098C>A (p.His700Asn) c.2206C>A (p.His736Asn) c.2170C>A (p.His724Asn) c.2128C>A (p.His710Asn) c.1680-6238C>A (n.1680-6238C>A) c.2224C>A (p.His742Asn) c.2290C>A (p.His764Asn) c.2287C>A (p.His763Asn) c.2260C>A (p.His754Asn) c.2179C>A (p.His727Asn) c.2164C>A (p.His722Asn) c.1771C>A (p.His591Asn) c.2233C>A (p.His745Asn) c.2167C>A (p.His723Asn) c.2125C>A (p.His709Asn) c.1198C>A (p.His400Asn) | gnomAD v4 |
20 | g.63407082G>A | CA317422163 | KCNQ2 | c.2235C>T (p.Gly745=) c.2181C>T (p.Gly727=) c.1578C>T (p.Gly526=) c.2088C>T (p.Gly696=) c.1749C>T (p.Gly583=) c.2097C>T (p.Gly699=) c.2205C>T (p.Gly735=) c.2169C>T (p.Gly723=) c.2127C>T (p.Gly709=) c.1680-6239C>T (n.1680-6239C>T) c.2223C>T (p.Gly741=) c.2289C>T (p.Gly763=) c.2286C>T (p.Gly762=) c.2259C>T (p.Gly753=) c.2178C>T (p.Gly726=) c.2163C>T (p.Gly721=) c.1770C>T (p.Gly590=) c.2232C>T (p.Gly744=) c.2166C>T (p.Gly722=) c.2124C>T (p.Gly708=) c.1197C>T (p.Gly399=) | ClinVar dbSNP gnomAD v4 |
20 | g.63407082G>C | CA511339500 | KCNQ2 | c.2235C>G (p.Gly745=) c.2181C>G (p.Gly727=) c.1578C>G (p.Gly526=) c.2088C>G (p.Gly696=) c.1749C>G (p.Gly583=) c.2097C>G (p.Gly699=) c.2205C>G (p.Gly735=) c.2169C>G (p.Gly723=) c.2127C>G (p.Gly709=) c.1680-6239C>G (n.1680-6239C>G) c.2223C>G (p.Gly741=) c.2289C>G (p.Gly763=) c.2286C>G (p.Gly762=) c.2259C>G (p.Gly753=) c.2178C>G (p.Gly726=) c.2163C>G (p.Gly721=) c.1770C>G (p.Gly590=) c.2232C>G (p.Gly744=) c.2166C>G (p.Gly722=) c.2124C>G (p.Gly708=) c.1197C>G (p.Gly399=) | |
20 | g.63407082G= | CA2374774409 | KCNQ2 | c.2235C= (p.Gly745=) c.2181C= (p.Gly727=) c.1578C= (p.Gly526=) c.2088C= (p.Gly696=) c.1749C= (p.Gly583=) c.2097C= (p.Gly699=) c.2205C= (p.Gly735=) c.2169C= (p.Gly723=) c.2127C= (p.Gly709=) c.1680-6239C= (n.1680-6239C=) c.2223C= (p.Gly741=) c.2289C= (p.Gly763=) c.2286C= (p.Gly762=) c.2259C= (p.Gly753=) c.2178C= (p.Gly726=) c.2163C= (p.Gly721=) c.1770C= (p.Gly590=) c.2232C= (p.Gly744=) c.2166C= (p.Gly722=) c.2124C= (p.Gly708=) c.1197C= (p.Gly399=) | |
20 | g.63407082G>T | CA511339501 | KCNQ2 | c.2235C>A (p.Gly745=) c.2181C>A (p.Gly727=) c.1578C>A (p.Gly526=) c.2088C>A (p.Gly696=) c.1749C>A (p.Gly583=) c.2097C>A (p.Gly699=) c.2205C>A (p.Gly735=) c.2169C>A (p.Gly723=) c.2127C>A (p.Gly709=) c.1680-6239C>A (n.1680-6239C>A) c.2223C>A (p.Gly741=) c.2289C>A (p.Gly763=) c.2286C>A (p.Gly762=) c.2259C>A (p.Gly753=) c.2178C>A (p.Gly726=) c.2163C>A (p.Gly721=) c.1770C>A (p.Gly590=) c.2232C>A (p.Gly744=) c.2166C>A (p.Gly722=) c.2124C>A (p.Gly708=) c.1197C>A (p.Gly399=) | gnomAD v4 |
20 | g.63407083C>A | CA409638684 | KCNQ2 | c.2234G>T (p.Gly745Val) c.2180G>T (p.Gly727Val) c.1577G>T (p.Gly526Val) c.2087G>T (p.Gly696Val) c.1748G>T (p.Gly583Val) c.2096G>T (p.Gly699Val) c.2204G>T (p.Gly735Val) c.2168G>T (p.Gly723Val) c.2126G>T (p.Gly709Val) c.1680-6240G>T (n.1680-6240G>T) c.2222G>T (p.Gly741Val) c.2288G>T (p.Gly763Val) c.2285G>T (p.Gly762Val) c.2258G>T (p.Gly753Val) c.2177G>T (p.Gly726Val) c.2162G>T (p.Gly721Val) c.1769G>T (p.Gly590Val) c.2231G>T (p.Gly744Val) c.2165G>T (p.Gly722Val) c.2123G>T (p.Gly708Val) c.1196G>T (p.Gly399Val) | gnomAD v4 |
20 | g.63407083C= | CA2374774410 | KCNQ2 | c.2234G= (p.Gly745=) c.2180G= (p.Gly727=) c.1577G= (p.Gly526=) c.2087G= (p.Gly696=) c.1748G= (p.Gly583=) c.2096G= (p.Gly699=) c.2204G= (p.Gly735=) c.2168G= (p.Gly723=) c.2126G= (p.Gly709=) c.1680-6240G= (n.1680-6240G=) c.2222G= (p.Gly741=) c.2288G= (p.Gly763=) c.2285G= (p.Gly762=) c.2258G= (p.Gly753=) c.2177G= (p.Gly726=) c.2162G= (p.Gly721=) c.1769G= (p.Gly590=) c.2231G= (p.Gly744=) c.2165G= (p.Gly722=) c.2123G= (p.Gly708=) c.1196G= (p.Gly399=) | |
20 | g.63407083C>G | CA409638687 | KCNQ2 | c.2234G>C (p.Gly745Ala) c.2180G>C (p.Gly727Ala) c.1577G>C (p.Gly526Ala) c.2087G>C (p.Gly696Ala) c.1748G>C (p.Gly583Ala) c.2096G>C (p.Gly699Ala) c.2204G>C (p.Gly735Ala) c.2168G>C (p.Gly723Ala) c.2126G>C (p.Gly709Ala) c.1680-6240G>C (n.1680-6240G>C) c.2222G>C (p.Gly741Ala) c.2288G>C (p.Gly763Ala) c.2285G>C (p.Gly762Ala) c.2258G>C (p.Gly753Ala) c.2177G>C (p.Gly726Ala) c.2162G>C (p.Gly721Ala) c.1769G>C (p.Gly590Ala) c.2231G>C (p.Gly744Ala) c.2165G>C (p.Gly722Ala) c.2123G>C (p.Gly708Ala) c.1196G>C (p.Gly399Ala) | |
20 | g.63407083C>T | CA409638690 | KCNQ2 | c.2234G>A (p.Gly745Asp) c.2180G>A (p.Gly727Asp) c.1577G>A (p.Gly526Asp) c.2087G>A (p.Gly696Asp) c.1748G>A (p.Gly583Asp) c.2096G>A (p.Gly699Asp) c.2204G>A (p.Gly735Asp) c.2168G>A (p.Gly723Asp) c.2126G>A (p.Gly709Asp) c.1680-6240G>A (n.1680-6240G>A) c.2222G>A (p.Gly741Asp) c.2288G>A (p.Gly763Asp) c.2285G>A (p.Gly762Asp) c.2258G>A (p.Gly753Asp) c.2177G>A (p.Gly726Asp) c.2162G>A (p.Gly721Asp) c.1769G>A (p.Gly590Asp) c.2231G>A (p.Gly744Asp) c.2165G>A (p.Gly722Asp) c.2123G>A (p.Gly708Asp) c.1196G>A (p.Gly399Asp) | COSMIC COSMIC COSMIC |
20 | g.63407084C>A | CA409638691 | KCNQ2 | c.2233G>T (p.Gly745Cys) c.2179G>T (p.Gly727Cys) c.1576G>T (p.Gly526Cys) c.2086G>T (p.Gly696Cys) c.1747G>T (p.Gly583Cys) c.2095G>T (p.Gly699Cys) c.2203G>T (p.Gly735Cys) c.2167G>T (p.Gly723Cys) c.2125G>T (p.Gly709Cys) c.1680-6241G>T (n.1680-6241G>T) c.2221G>T (p.Gly741Cys) c.2287G>T (p.Gly763Cys) c.2284G>T (p.Gly762Cys) c.2257G>T (p.Gly753Cys) c.2176G>T (p.Gly726Cys) c.2161G>T (p.Gly721Cys) c.1768G>T (p.Gly590Cys) c.2230G>T (p.Gly744Cys) c.2164G>T (p.Gly722Cys) c.2122G>T (p.Gly708Cys) c.1195G>T (p.Gly399Cys) | gnomAD v4 |
20 | g.63407084C= | CA2374774411 | KCNQ2 | c.2233G= (p.Gly745=) c.2179G= (p.Gly727=) c.1576G= (p.Gly526=) c.2086G= (p.Gly696=) c.1747G= (p.Gly583=) c.2095G= (p.Gly699=) c.2203G= (p.Gly735=) c.2167G= (p.Gly723=) c.2125G= (p.Gly709=) c.1680-6241G= (n.1680-6241G=) c.2221G= (p.Gly741=) c.2287G= (p.Gly763=) c.2284G= (p.Gly762=) c.2257G= (p.Gly753=) c.2176G= (p.Gly726=) c.2161G= (p.Gly721=) c.1768G= (p.Gly590=) c.2230G= (p.Gly744=) c.2164G= (p.Gly722=) c.2122G= (p.Gly708=) c.1195G= (p.Gly399=) | |
20 | g.63407084C>G | CA409638694 | KCNQ2 | c.2233G>C (p.Gly745Arg) c.2179G>C (p.Gly727Arg) c.1576G>C (p.Gly526Arg) c.2086G>C (p.Gly696Arg) c.1747G>C (p.Gly583Arg) c.2095G>C (p.Gly699Arg) c.2203G>C (p.Gly735Arg) c.2167G>C (p.Gly723Arg) c.2125G>C (p.Gly709Arg) c.1680-6241G>C (n.1680-6241G>C) c.2221G>C (p.Gly741Arg) c.2287G>C (p.Gly763Arg) c.2284G>C (p.Gly762Arg) c.2257G>C (p.Gly753Arg) c.2176G>C (p.Gly726Arg) c.2161G>C (p.Gly721Arg) c.1768G>C (p.Gly590Arg) c.2230G>C (p.Gly744Arg) c.2164G>C (p.Gly722Arg) c.2122G>C (p.Gly708Arg) c.1195G>C (p.Gly399Arg) | |
20 | g.63407084C>T | CA9958133 | KCNQ2 | c.2233G>A (p.Gly745Ser) c.2179G>A (p.Gly727Ser) c.1576G>A (p.Gly526Ser) c.2086G>A (p.Gly696Ser) c.1747G>A (p.Gly583Ser) c.2095G>A (p.Gly699Ser) c.2203G>A (p.Gly735Ser) c.2167G>A (p.Gly723Ser) c.2125G>A (p.Gly709Ser) c.1680-6241G>A (n.1680-6241G>A) c.2221G>A (p.Gly741Ser) c.2287G>A (p.Gly763Ser) c.2284G>A (p.Gly762Ser) c.2257G>A (p.Gly753Ser) c.2176G>A (p.Gly726Ser) c.2161G>A (p.Gly721Ser) c.1768G>A (p.Gly590Ser) c.2230G>A (p.Gly744Ser) c.2164G>A (p.Gly722Ser) c.2122G>A (p.Gly708Ser) c.1195G>A (p.Gly399Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407085_63407091dup | CA16616477 | KCNQ2 | c.2227_2233dup (p.Gly745AlafsTer?) c.2173_2179dup (p.Gly727AlafsTer?) c.1570_1576dup (p.Gly526AlafsTer?) c.2080_2086dup (p.Gly696AlafsTer?) c.1741_1747dup (p.Gly583AlafsTer?) c.2089_2095dup (p.Gly699AlafsTer?) c.2197_2203dup (p.Gly735AlafsTer?) c.2161_2167dup (p.Gly723AlafsTer?) c.2119_2125dup (p.Gly709AlafsTer?) c.1680-6247_1680-6241dup (n.1680-6247_1680-6241dup) c.2215_2221dup (p.Gly741AlafsTer?) c.2281_2287dup (p.Gly763AlafsTer?) c.2278_2284dup (p.Gly762AlafsTer?) c.2251_2257dup (p.Gly753AlafsTer?) c.2170_2176dup (p.Gly726AlafsTer?) c.2155_2161dup (p.Gly721AlafsTer?) c.1762_1768dup (p.Gly590AlafsTer?) c.2224_2230dup (p.Gly744AlafsTer?) c.2158_2164dup (p.Gly722AlafsTer?) c.2116_2122dup (p.Gly708AlafsTer?) c.1189_1195dup (p.Gly399AlafsTer?) | ClinVar dbSNP |
20 | g.63407085C>A | CA409638698 | KCNQ2 | c.2232G>T (p.Gln744His) c.2178G>T (p.Gln726His) c.1575G>T (p.Gln525His) c.2085G>T (p.Gln695His) c.1746G>T (p.Gln582His) c.2094G>T (p.Gln698His) c.2202G>T (p.Gln734His) c.2166G>T (p.Gln722His) c.2124G>T (p.Gln708His) c.1680-6242G>T (n.1680-6242G>T) c.2220G>T (p.Gln740His) c.2286G>T (p.Gln762His) c.2283G>T (p.Gln761His) c.2256G>T (p.Gln752His) c.2175G>T (p.Gln725His) c.2160G>T (p.Gln720His) c.1767G>T (p.Gln589His) c.2229G>T (p.Gln743His) c.2163G>T (p.Gln721His) c.2121G>T (p.Gln707His) c.1194G>T (p.Gln398His) | gnomAD v4 |
20 | g.63407085C>G | CA409638700 | KCNQ2 | c.2232G>C (p.Gln744His) c.2178G>C (p.Gln726His) c.1575G>C (p.Gln525His) c.2085G>C (p.Gln695His) c.1746G>C (p.Gln582His) c.2094G>C (p.Gln698His) c.2202G>C (p.Gln734His) c.2166G>C (p.Gln722His) c.2124G>C (p.Gln708His) c.1680-6242G>C (n.1680-6242G>C) c.2220G>C (p.Gln740His) c.2286G>C (p.Gln762His) c.2283G>C (p.Gln761His) c.2256G>C (p.Gln752His) c.2175G>C (p.Gln725His) c.2160G>C (p.Gln720His) c.1767G>C (p.Gln589His) c.2229G>C (p.Gln743His) c.2163G>C (p.Gln721His) c.2121G>C (p.Gln707His) c.1194G>C (p.Gln398His) | |
20 | g.63407085C>T | CA511339502 | KCNQ2 | c.2232G>A (p.Gln744=) c.2178G>A (p.Gln726=) c.1575G>A (p.Gln525=) c.2085G>A (p.Gln695=) c.1746G>A (p.Gln582=) c.2094G>A (p.Gln698=) c.2202G>A (p.Gln734=) c.2166G>A (p.Gln722=) c.2124G>A (p.Gln708=) c.1680-6242G>A (n.1680-6242G>A) c.2220G>A (p.Gln740=) c.2286G>A (p.Gln762=) c.2283G>A (p.Gln761=) c.2256G>A (p.Gln752=) c.2175G>A (p.Gln725=) c.2160G>A (p.Gln720=) c.1767G>A (p.Gln589=) c.2229G>A (p.Gln743=) c.2163G>A (p.Gln721=) c.2121G>A (p.Gln707=) c.1194G>A (p.Gln398=) | ClinVar gnomAD v4 |
20 | g.63407086T>A | CA409638707 | KCNQ2 | c.2231A>T (p.Gln744Leu) c.2177A>T (p.Gln726Leu) c.1574A>T (p.Gln525Leu) c.2084A>T (p.Gln695Leu) c.1745A>T (p.Gln582Leu) c.2093A>T (p.Gln698Leu) c.2201A>T (p.Gln734Leu) c.2165A>T (p.Gln722Leu) c.2123A>T (p.Gln708Leu) c.1680-6243A>T (n.1680-6243A>T) c.2219A>T (p.Gln740Leu) c.2285A>T (p.Gln762Leu) c.2282A>T (p.Gln761Leu) c.2255A>T (p.Gln752Leu) c.2174A>T (p.Gln725Leu) c.2159A>T (p.Gln720Leu) c.1766A>T (p.Gln589Leu) c.2228A>T (p.Gln743Leu) c.2162A>T (p.Gln721Leu) c.2120A>T (p.Gln707Leu) c.1193A>T (p.Gln398Leu) | |
20 | g.63407086T>C | CA409638703 | KCNQ2 | c.2231A>G (p.Gln744Arg) c.2177A>G (p.Gln726Arg) c.1574A>G (p.Gln525Arg) c.2084A>G (p.Gln695Arg) c.1745A>G (p.Gln582Arg) c.2093A>G (p.Gln698Arg) c.2201A>G (p.Gln734Arg) c.2165A>G (p.Gln722Arg) c.2123A>G (p.Gln708Arg) c.1680-6243A>G (n.1680-6243A>G) c.2219A>G (p.Gln740Arg) c.2285A>G (p.Gln762Arg) c.2282A>G (p.Gln761Arg) c.2255A>G (p.Gln752Arg) c.2174A>G (p.Gln725Arg) c.2159A>G (p.Gln720Arg) c.1766A>G (p.Gln589Arg) c.2228A>G (p.Gln743Arg) c.2162A>G (p.Gln721Arg) c.2120A>G (p.Gln707Arg) c.1193A>G (p.Gln398Arg) | gnomAD v4 |
20 | g.63407086T>G | CA409638704 | KCNQ2 | c.2231A>C (p.Gln744Pro) c.2177A>C (p.Gln726Pro) c.1574A>C (p.Gln525Pro) c.2084A>C (p.Gln695Pro) c.1745A>C (p.Gln582Pro) c.2093A>C (p.Gln698Pro) c.2201A>C (p.Gln734Pro) c.2165A>C (p.Gln722Pro) c.2123A>C (p.Gln708Pro) c.1680-6243A>C (n.1680-6243A>C) c.2219A>C (p.Gln740Pro) c.2285A>C (p.Gln762Pro) c.2282A>C (p.Gln761Pro) c.2255A>C (p.Gln752Pro) c.2174A>C (p.Gln725Pro) c.2159A>C (p.Gln720Pro) c.1766A>C (p.Gln589Pro) c.2228A>C (p.Gln743Pro) c.2162A>C (p.Gln721Pro) c.2120A>C (p.Gln707Pro) c.1193A>C (p.Gln398Pro) | |
20 | g.63407087G>A | CA409638709 | KCNQ2 | c.2230C>T (p.Gln744Ter) c.2176C>T (p.Gln726Ter) c.1573C>T (p.Gln525Ter) c.2083C>T (p.Gln695Ter) c.1744C>T (p.Gln582Ter) c.2092C>T (p.Gln698Ter) c.2200C>T (p.Gln734Ter) c.2164C>T (p.Gln722Ter) c.2122C>T (p.Gln708Ter) c.1680-6244C>T (n.1680-6244C>T) c.2218C>T (p.Gln740Ter) c.2284C>T (p.Gln762Ter) c.2281C>T (p.Gln761Ter) c.2254C>T (p.Gln752Ter) c.2173C>T (p.Gln725Ter) c.2158C>T (p.Gln720Ter) c.1765C>T (p.Gln589Ter) c.2227C>T (p.Gln743Ter) c.2161C>T (p.Gln721Ter) c.2119C>T (p.Gln707Ter) c.1192C>T (p.Gln398Ter) | gnomAD v4 |
20 | g.63407087G>C | CA409638711 | KCNQ2 | c.2230C>G (p.Gln744Glu) c.2176C>G (p.Gln726Glu) c.1573C>G (p.Gln525Glu) c.2083C>G (p.Gln695Glu) c.1744C>G (p.Gln582Glu) c.2092C>G (p.Gln698Glu) c.2200C>G (p.Gln734Glu) c.2164C>G (p.Gln722Glu) c.2122C>G (p.Gln708Glu) c.1680-6244C>G (n.1680-6244C>G) c.2218C>G (p.Gln740Glu) c.2284C>G (p.Gln762Glu) c.2281C>G (p.Gln761Glu) c.2254C>G (p.Gln752Glu) c.2173C>G (p.Gln725Glu) c.2158C>G (p.Gln720Glu) c.1765C>G (p.Gln589Glu) c.2227C>G (p.Gln743Glu) c.2161C>G (p.Gln721Glu) c.2119C>G (p.Gln707Glu) c.1192C>G (p.Gln398Glu) | |
20 | g.63407087G>T | CA409638712 | KCNQ2 | c.2230C>A (p.Gln744Lys) c.2176C>A (p.Gln726Lys) c.1573C>A (p.Gln525Lys) c.2083C>A (p.Gln695Lys) c.1744C>A (p.Gln582Lys) c.2092C>A (p.Gln698Lys) c.2200C>A (p.Gln734Lys) c.2164C>A (p.Gln722Lys) c.2122C>A (p.Gln708Lys) c.1680-6244C>A (n.1680-6244C>A) c.2218C>A (p.Gln740Lys) c.2284C>A (p.Gln762Lys) c.2281C>A (p.Gln761Lys) c.2254C>A (p.Gln752Lys) c.2173C>A (p.Gln725Lys) c.2158C>A (p.Gln720Lys) c.1765C>A (p.Gln589Lys) c.2227C>A (p.Gln743Lys) c.2161C>A (p.Gln721Lys) c.2119C>A (p.Gln707Lys) c.1192C>A (p.Gln398Lys) | gnomAD v4 |
20 | g.63407088G>A | CA511339503 | KCNQ2 | c.2229C>T (p.Arg743=) c.2175C>T (p.Arg725=) c.1572C>T (p.Arg524=) c.2082C>T (p.Arg694=) c.1743C>T (p.Arg581=) c.2091C>T (p.Arg697=) c.2199C>T (p.Arg733=) c.2163C>T (p.Arg721=) c.2121C>T (p.Arg707=) c.1680-6245C>T (n.1680-6245C>T) c.2217C>T (p.Arg739=) c.2283C>T (p.Arg761=) c.2280C>T (p.Arg760=) c.2253C>T (p.Arg751=) c.2172C>T (p.Arg724=) c.2157C>T (p.Arg719=) c.1764C>T (p.Arg588=) c.2226C>T (p.Arg742=) c.2160C>T (p.Arg720=) c.2118C>T (p.Arg706=) c.1191C>T (p.Arg397=) | |
20 | g.63407088G>C | CA511339504 | KCNQ2 | c.2229C>G (p.Arg743=) c.2175C>G (p.Arg725=) c.1572C>G (p.Arg524=) c.2082C>G (p.Arg694=) c.1743C>G (p.Arg581=) c.2091C>G (p.Arg697=) c.2199C>G (p.Arg733=) c.2163C>G (p.Arg721=) c.2121C>G (p.Arg707=) c.1680-6245C>G (n.1680-6245C>G) c.2217C>G (p.Arg739=) c.2283C>G (p.Arg761=) c.2280C>G (p.Arg760=) c.2253C>G (p.Arg751=) c.2172C>G (p.Arg724=) c.2157C>G (p.Arg719=) c.1764C>G (p.Arg588=) c.2226C>G (p.Arg742=) c.2160C>G (p.Arg720=) c.2118C>G (p.Arg706=) c.1191C>G (p.Arg397=) | |
20 | g.63407088G>T | CA511339505 | KCNQ2 | c.2229C>A (p.Arg743=) c.2175C>A (p.Arg725=) c.1572C>A (p.Arg524=) c.2082C>A (p.Arg694=) c.1743C>A (p.Arg581=) c.2091C>A (p.Arg697=) c.2199C>A (p.Arg733=) c.2163C>A (p.Arg721=) c.2121C>A (p.Arg707=) c.1680-6245C>A (n.1680-6245C>A) c.2217C>A (p.Arg739=) c.2283C>A (p.Arg761=) c.2280C>A (p.Arg760=) c.2253C>A (p.Arg751=) c.2172C>A (p.Arg724=) c.2157C>A (p.Arg719=) c.1764C>A (p.Arg588=) c.2226C>A (p.Arg742=) c.2160C>A (p.Arg720=) c.2118C>A (p.Arg706=) c.1191C>A (p.Arg397=) | gnomAD v4 |
20 | g.63407089C>A | CA9958135 | KCNQ2 | c.2228G>T (p.Arg743Leu) c.2174G>T (p.Arg725Leu) c.1571G>T (p.Arg524Leu) c.2081G>T (p.Arg694Leu) c.1742G>T (p.Arg581Leu) c.2090G>T (p.Arg697Leu) c.2198G>T (p.Arg733Leu) c.2162G>T (p.Arg721Leu) c.2120G>T (p.Arg707Leu) c.1680-6246G>T (n.1680-6246G>T) c.2216G>T (p.Arg739Leu) c.2282G>T (p.Arg761Leu) c.2279G>T (p.Arg760Leu) c.2252G>T (p.Arg751Leu) c.2171G>T (p.Arg724Leu) c.2156G>T (p.Arg719Leu) c.1763G>T (p.Arg588Leu) c.2225G>T (p.Arg742Leu) c.2159G>T (p.Arg720Leu) c.2117G>T (p.Arg706Leu) c.1190G>T (p.Arg397Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63407089C= | CA2374774412 | KCNQ2 | c.2228G= (p.Arg743=) c.2174G= (p.Arg725=) c.1571G= (p.Arg524=) c.2081G= (p.Arg694=) c.1742G= (p.Arg581=) c.2090G= (p.Arg697=) c.2198G= (p.Arg733=) c.2162G= (p.Arg721=) c.2120G= (p.Arg707=) c.1680-6246G= (n.1680-6246G=) c.2216G= (p.Arg739=) c.2282G= (p.Arg761=) c.2279G= (p.Arg760=) c.2252G= (p.Arg751=) c.2171G= (p.Arg724=) c.2156G= (p.Arg719=) c.1763G= (p.Arg588=) c.2225G= (p.Arg742=) c.2159G= (p.Arg720=) c.2117G= (p.Arg706=) c.1190G= (p.Arg397=) | |
20 | g.63407089C>G | CA317422179 | KCNQ2 | c.2228G>C (p.Arg743Pro) c.2174G>C (p.Arg725Pro) c.1571G>C (p.Arg524Pro) c.2081G>C (p.Arg694Pro) c.1742G>C (p.Arg581Pro) c.2090G>C (p.Arg697Pro) c.2198G>C (p.Arg733Pro) c.2162G>C (p.Arg721Pro) c.2120G>C (p.Arg707Pro) c.1680-6246G>C (n.1680-6246G>C) c.2216G>C (p.Arg739Pro) c.2282G>C (p.Arg761Pro) c.2279G>C (p.Arg760Pro) c.2252G>C (p.Arg751Pro) c.2171G>C (p.Arg724Pro) c.2156G>C (p.Arg719Pro) c.1763G>C (p.Arg588Pro) c.2225G>C (p.Arg742Pro) c.2159G>C (p.Arg720Pro) c.2117G>C (p.Arg706Pro) c.1190G>C (p.Arg397Pro) | dbSNP gnomAD v4 |
20 | g.63407089C>T | CA9958134 | KCNQ2 | c.2228G>A (p.Arg743His) c.2174G>A (p.Arg725His) c.1571G>A (p.Arg524His) c.2081G>A (p.Arg694His) c.1742G>A (p.Arg581His) c.2090G>A (p.Arg697His) c.2198G>A (p.Arg733His) c.2162G>A (p.Arg721His) c.2120G>A (p.Arg707His) c.1680-6246G>A (n.1680-6246G>A) c.2216G>A (p.Arg739His) c.2282G>A (p.Arg761His) c.2279G>A (p.Arg760His) c.2252G>A (p.Arg751His) c.2171G>A (p.Arg724His) c.2156G>A (p.Arg719His) c.1763G>A (p.Arg588His) c.2225G>A (p.Arg742His) c.2159G>A (p.Arg720His) c.2117G>A (p.Arg706His) c.1190G>A (p.Arg397His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63407089_63407104delinsCGCGGGTGGCTCTGTG | CA2374774413 | KCNQ2 | c.2213_2228delinsCACAGAGCCACCCGCG (p.Pro738=) c.2159_2174delinsCACAGAGCCACCCGCG (p.Pro720=) c.1556_1571delinsCACAGAGCCACCCGCG (p.Pro519=) c.2066_2081delinsCACAGAGCCACCCGCG (p.Pro689=) c.1727_1742delinsCACAGAGCCACCCGCG (p.Pro576=) c.2075_2090delinsCACAGAGCCACCCGCG (p.Pro692=) c.2183_2198delinsCACAGAGCCACCCGCG (p.Pro728=) c.2147_2162delinsCACAGAGCCACCCGCG (p.Pro716=) c.2105_2120delinsCACAGAGCCACCCGCG (p.Pro702=) c.1680-6261_1680-6246delinsCACAGAGCCACCCGCG (n.1680-6261_1680-6246delinsCACAGAGCCACCCGCG) c.2201_2216delinsCACAGAGCCACCCGCG (p.Pro734=) c.2267_2282delinsCACAGAGCCACCCGCG (p.Pro756=) c.2264_2279delinsCACAGAGCCACCCGCG (p.Pro755=) c.2237_2252delinsCACAGAGCCACCCGCG (p.Pro746=) c.2156_2171delinsCACAGAGCCACCCGCG (p.Pro719=) c.2141_2156delinsCACAGAGCCACCCGCG (p.Pro714=) c.1748_1763delinsCACAGAGCCACCCGCG (p.Pro583=) c.2210_2225delinsCACAGAGCCACCCGCG (p.Pro737=) c.2144_2159delinsCACAGAGCCACCCGCG (p.Pro715=) c.2102_2117delinsCACAGAGCCACCCGCG (p.Pro701=) c.1175_1190delinsCACAGAGCCACCCGCG (p.Pro392=) | |
20 | g.63407090G>A | CA9958136 | KCNQ2 | c.2227C>T (p.Arg743Cys) c.2173C>T (p.Arg725Cys) c.1570C>T (p.Arg524Cys) c.2080C>T (p.Arg694Cys) c.1741C>T (p.Arg581Cys) c.2089C>T (p.Arg697Cys) c.2197C>T (p.Arg733Cys) c.2161C>T (p.Arg721Cys) c.2119C>T (p.Arg707Cys) c.1680-6247C>T (n.1680-6247C>T) c.2215C>T (p.Arg739Cys) c.2281C>T (p.Arg761Cys) c.2278C>T (p.Arg760Cys) c.2251C>T (p.Arg751Cys) c.2170C>T (p.Arg724Cys) c.2155C>T (p.Arg719Cys) c.1762C>T (p.Arg588Cys) c.2224C>T (p.Arg742Cys) c.2158C>T (p.Arg720Cys) c.2116C>T (p.Arg706Cys) c.1189C>T (p.Arg397Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407090G>C | CA409638718 | KCNQ2 | c.2227C>G (p.Arg743Gly) c.2173C>G (p.Arg725Gly) c.1570C>G (p.Arg524Gly) c.2080C>G (p.Arg694Gly) c.1741C>G (p.Arg581Gly) c.2089C>G (p.Arg697Gly) c.2197C>G (p.Arg733Gly) c.2161C>G (p.Arg721Gly) c.2119C>G (p.Arg707Gly) c.1680-6247C>G (n.1680-6247C>G) c.2215C>G (p.Arg739Gly) c.2281C>G (p.Arg761Gly) c.2278C>G (p.Arg760Gly) c.2251C>G (p.Arg751Gly) c.2170C>G (p.Arg724Gly) c.2155C>G (p.Arg719Gly) c.1762C>G (p.Arg588Gly) c.2224C>G (p.Arg742Gly) c.2158C>G (p.Arg720Gly) c.2116C>G (p.Arg706Gly) c.1189C>G (p.Arg397Gly) | |
20 | g.63407090G= | CA2374774414 | KCNQ2 | c.2227C= (p.Arg743=) c.2173C= (p.Arg725=) c.1570C= (p.Arg524=) c.2080C= (p.Arg694=) c.1741C= (p.Arg581=) c.2089C= (p.Arg697=) c.2197C= (p.Arg733=) c.2161C= (p.Arg721=) c.2119C= (p.Arg707=) c.1680-6247C= (n.1680-6247C=) c.2215C= (p.Arg739=) c.2281C= (p.Arg761=) c.2278C= (p.Arg760=) c.2251C= (p.Arg751=) c.2170C= (p.Arg724=) c.2155C= (p.Arg719=) c.1762C= (p.Arg588=) c.2224C= (p.Arg742=) c.2158C= (p.Arg720=) c.2116C= (p.Arg706=) c.1189C= (p.Arg397=) | |
20 | g.63407090G>T | CA409638720 | KCNQ2 | c.2227C>A (p.Arg743Ser) c.2173C>A (p.Arg725Ser) c.1570C>A (p.Arg524Ser) c.2080C>A (p.Arg694Ser) c.1741C>A (p.Arg581Ser) c.2089C>A (p.Arg697Ser) c.2197C>A (p.Arg733Ser) c.2161C>A (p.Arg721Ser) c.2119C>A (p.Arg707Ser) c.1680-6247C>A (n.1680-6247C>A) c.2215C>A (p.Arg739Ser) c.2281C>A (p.Arg761Ser) c.2278C>A (p.Arg760Ser) c.2251C>A (p.Arg751Ser) c.2170C>A (p.Arg724Ser) c.2155C>A (p.Arg719Ser) c.1762C>A (p.Arg588Ser) c.2224C>A (p.Arg742Ser) c.2158C>A (p.Arg720Ser) c.2116C>A (p.Arg706Ser) c.1189C>A (p.Arg397Ser) | gnomAD v4 |
20 | g.63407092_63407106del | CA636614188 | KCNQ2 | c.2213_2227del (p.Pro738_Pro742del) c.2159_2173del (p.Pro720_Pro724del) c.1556_1570del (p.Pro519_Pro523del) c.2066_2080del (p.Pro689_Pro693del) c.1727_1741del (p.Pro576_Pro580del) c.2075_2089del (p.Pro692_Pro696del) c.2183_2197del (p.Pro728_Pro732del) c.2147_2161del (p.Pro716_Pro720del) c.2105_2119del (p.Pro702_Pro706del) c.1680-6261_1680-6247del (n.1680-6261_1680-6247del) c.2201_2215del (p.Pro734_Pro738del) c.2267_2281del (p.Pro756_Pro760del) c.2264_2278del (p.Pro755_Pro759del) c.2237_2251del (p.Pro746_Pro750del) c.2156_2170del (p.Pro719_Pro723del) c.2141_2155del (p.Pro714_Pro718del) c.1748_1762del (p.Pro583_Pro587del) c.2210_2224del (p.Pro737_Pro741del) c.2144_2158del (p.Pro715_Pro719del) c.2102_2116del (p.Pro701_Pro705del) c.1175_1189del (p.Pro392_Pro396del) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407091C>A | CA511339506 | KCNQ2 | c.2226G>T (p.Pro742=) c.2172G>T (p.Pro724=) c.1569G>T (p.Pro523=) c.2079G>T (p.Pro693=) c.1740G>T (p.Pro580=) c.2088G>T (p.Pro696=) c.2196G>T (p.Pro732=) c.2160G>T (p.Pro720=) c.2118G>T (p.Pro706=) c.1680-6248G>T (n.1680-6248G>T) c.2214G>T (p.Pro738=) c.2280G>T (p.Pro760=) c.2277G>T (p.Pro759=) c.2250G>T (p.Pro750=) c.2169G>T (p.Pro723=) c.2154G>T (p.Pro718=) c.1761G>T (p.Pro587=) c.2223G>T (p.Pro741=) c.2157G>T (p.Pro719=) c.2115G>T (p.Pro705=) c.1188G>T (p.Pro396=) | gnomAD v4 |
20 | g.63407091C= | CA2374774415 | KCNQ2 | c.2226G= (p.Pro742=) c.2172G= (p.Pro724=) c.1569G= (p.Pro523=) c.2079G= (p.Pro693=) c.1740G= (p.Pro580=) c.2088G= (p.Pro696=) c.2196G= (p.Pro732=) c.2160G= (p.Pro720=) c.2118G= (p.Pro706=) c.1680-6248G= (n.1680-6248G=) c.2214G= (p.Pro738=) c.2280G= (p.Pro760=) c.2277G= (p.Pro759=) c.2250G= (p.Pro750=) c.2169G= (p.Pro723=) c.2154G= (p.Pro718=) c.1761G= (p.Pro587=) c.2223G= (p.Pro741=) c.2157G= (p.Pro719=) c.2115G= (p.Pro705=) c.1188G= (p.Pro396=) | |
20 | g.63407091C>G | CA511339507 | KCNQ2 | c.2226G>C (p.Pro742=) c.2172G>C (p.Pro724=) c.1569G>C (p.Pro523=) c.2079G>C (p.Pro693=) c.1740G>C (p.Pro580=) c.2088G>C (p.Pro696=) c.2196G>C (p.Pro732=) c.2160G>C (p.Pro720=) c.2118G>C (p.Pro706=) c.1680-6248G>C (n.1680-6248G>C) c.2214G>C (p.Pro738=) c.2280G>C (p.Pro760=) c.2277G>C (p.Pro759=) c.2250G>C (p.Pro750=) c.2169G>C (p.Pro723=) c.2154G>C (p.Pro718=) c.1761G>C (p.Pro587=) c.2223G>C (p.Pro741=) c.2157G>C (p.Pro719=) c.2115G>C (p.Pro705=) c.1188G>C (p.Pro396=) | |
20 | g.63407091C>T | CA9958137 | KCNQ2 | c.2226G>A (p.Pro742=) c.2172G>A (p.Pro724=) c.1569G>A (p.Pro523=) c.2079G>A (p.Pro693=) c.1740G>A (p.Pro580=) c.2088G>A (p.Pro696=) c.2196G>A (p.Pro732=) c.2160G>A (p.Pro720=) c.2118G>A (p.Pro706=) c.1680-6248G>A (n.1680-6248G>A) c.2214G>A (p.Pro738=) c.2280G>A (p.Pro760=) c.2277G>A (p.Pro759=) c.2250G>A (p.Pro750=) c.2169G>A (p.Pro723=) c.2154G>A (p.Pro718=) c.1761G>A (p.Pro587=) c.2223G>A (p.Pro741=) c.2157G>A (p.Pro719=) c.2115G>A (p.Pro705=) c.1188G>A (p.Pro396=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407092G>A | CA9958138 | KCNQ2 | c.2225C>T (p.Pro742Leu) c.2171C>T (p.Pro724Leu) c.1568C>T (p.Pro523Leu) c.2078C>T (p.Pro693Leu) c.1739C>T (p.Pro580Leu) c.2087C>T (p.Pro696Leu) c.2195C>T (p.Pro732Leu) c.2159C>T (p.Pro720Leu) c.2117C>T (p.Pro706Leu) c.1680-6249C>T (n.1680-6249C>T) c.2213C>T (p.Pro738Leu) c.2279C>T (p.Pro760Leu) c.2276C>T (p.Pro759Leu) c.2249C>T (p.Pro750Leu) c.2168C>T (p.Pro723Leu) c.2153C>T (p.Pro718Leu) c.1760C>T (p.Pro587Leu) c.2222C>T (p.Pro741Leu) c.2156C>T (p.Pro719Leu) c.2114C>T (p.Pro705Leu) c.1187C>T (p.Pro396Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407092G>C | CA409638725 | KCNQ2 | c.2225C>G (p.Pro742Arg) c.2171C>G (p.Pro724Arg) c.1568C>G (p.Pro523Arg) c.2078C>G (p.Pro693Arg) c.1739C>G (p.Pro580Arg) c.2087C>G (p.Pro696Arg) c.2195C>G (p.Pro732Arg) c.2159C>G (p.Pro720Arg) c.2117C>G (p.Pro706Arg) c.1680-6249C>G (n.1680-6249C>G) c.2213C>G (p.Pro738Arg) c.2279C>G (p.Pro760Arg) c.2276C>G (p.Pro759Arg) c.2249C>G (p.Pro750Arg) c.2168C>G (p.Pro723Arg) c.2153C>G (p.Pro718Arg) c.1760C>G (p.Pro587Arg) c.2222C>G (p.Pro741Arg) c.2156C>G (p.Pro719Arg) c.2114C>G (p.Pro705Arg) c.1187C>G (p.Pro396Arg) | |
20 | g.63407092G= | CA2374774416 | KCNQ2 | c.2225C= (p.Pro742=) c.2171C= (p.Pro724=) c.1568C= (p.Pro523=) c.2078C= (p.Pro693=) c.1739C= (p.Pro580=) c.2087C= (p.Pro696=) c.2195C= (p.Pro732=) c.2159C= (p.Pro720=) c.2117C= (p.Pro706=) c.1680-6249C= (n.1680-6249C=) c.2213C= (p.Pro738=) c.2279C= (p.Pro760=) c.2276C= (p.Pro759=) c.2249C= (p.Pro750=) c.2168C= (p.Pro723=) c.2153C= (p.Pro718=) c.1760C= (p.Pro587=) c.2222C= (p.Pro741=) c.2156C= (p.Pro719=) c.2114C= (p.Pro705=) c.1187C= (p.Pro396=) | |
20 | g.63407092G>T | CA409638724 | KCNQ2 | c.2225C>A (p.Pro742Gln) c.2171C>A (p.Pro724Gln) c.1568C>A (p.Pro523Gln) c.2078C>A (p.Pro693Gln) c.1739C>A (p.Pro580Gln) c.2087C>A (p.Pro696Gln) c.2195C>A (p.Pro732Gln) c.2159C>A (p.Pro720Gln) c.2117C>A (p.Pro706Gln) c.1680-6249C>A (n.1680-6249C>A) c.2213C>A (p.Pro738Gln) c.2279C>A (p.Pro760Gln) c.2276C>A (p.Pro759Gln) c.2249C>A (p.Pro750Gln) c.2168C>A (p.Pro723Gln) c.2153C>A (p.Pro718Gln) c.1760C>A (p.Pro587Gln) c.2222C>A (p.Pro741Gln) c.2156C>A (p.Pro719Gln) c.2114C>A (p.Pro705Gln) c.1187C>A (p.Pro396Gln) | gnomAD v4 |
20 | g.63407094del | CA2695230034 | KCNQ2 | c.2225del (p.Pro742ArgfsTer?) c.2171del (p.Pro724ArgfsTer?) c.1568del (p.Pro523ArgfsTer?) c.2078del (p.Pro693ArgfsTer?) c.1739del (p.Pro580ArgfsTer?) c.2087del (p.Pro696ArgfsTer?) c.2195del (p.Pro732ArgfsTer?) c.2159del (p.Pro720ArgfsTer?) c.2117del (p.Pro706ArgfsTer?) c.1680-6249del (n.1680-6249del) c.2213del (p.Pro738ArgfsTer?) c.2279del (p.Pro760ArgfsTer?) c.2276del (p.Pro759ArgfsTer?) c.2249del (p.Pro750ArgfsTer?) c.2168del (p.Pro723ArgfsTer?) c.2153del (p.Pro718ArgfsTer?) c.1760del (p.Pro587ArgfsTer?) c.2222del (p.Pro741ArgfsTer?) c.2156del (p.Pro719ArgfsTer?) c.2114del (p.Pro705ArgfsTer?) c.1187del (p.Pro396ArgfsTer?) | |
20 | g.63407093G>A | CA409638728 | KCNQ2 | c.2224C>T (p.Pro742Ser) c.2170C>T (p.Pro724Ser) c.1567C>T (p.Pro523Ser) c.2077C>T (p.Pro693Ser) c.1738C>T (p.Pro580Ser) c.2086C>T (p.Pro696Ser) c.2194C>T (p.Pro732Ser) c.2158C>T (p.Pro720Ser) c.2116C>T (p.Pro706Ser) c.1680-6250C>T (n.1680-6250C>T) c.2212C>T (p.Pro738Ser) c.2278C>T (p.Pro760Ser) c.2275C>T (p.Pro759Ser) c.2248C>T (p.Pro750Ser) c.2167C>T (p.Pro723Ser) c.2152C>T (p.Pro718Ser) c.1759C>T (p.Pro587Ser) c.2221C>T (p.Pro741Ser) c.2155C>T (p.Pro719Ser) c.2113C>T (p.Pro705Ser) c.1186C>T (p.Pro396Ser) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63407093G>C | CA409638729 | KCNQ2 | c.2224C>G (p.Pro742Ala) c.2170C>G (p.Pro724Ala) c.1567C>G (p.Pro523Ala) c.2077C>G (p.Pro693Ala) c.1738C>G (p.Pro580Ala) c.2086C>G (p.Pro696Ala) c.2194C>G (p.Pro732Ala) c.2158C>G (p.Pro720Ala) c.2116C>G (p.Pro706Ala) c.1680-6250C>G (n.1680-6250C>G) c.2212C>G (p.Pro738Ala) c.2278C>G (p.Pro760Ala) c.2275C>G (p.Pro759Ala) c.2248C>G (p.Pro750Ala) c.2167C>G (p.Pro723Ala) c.2152C>G (p.Pro718Ala) c.1759C>G (p.Pro587Ala) c.2221C>G (p.Pro741Ala) c.2155C>G (p.Pro719Ala) c.2113C>G (p.Pro705Ala) c.1186C>G (p.Pro396Ala) | |
20 | g.63407093G= | CA2374774417 | KCNQ2 | c.2224C= (p.Pro742=) c.2170C= (p.Pro724=) c.1567C= (p.Pro523=) c.2077C= (p.Pro693=) c.1738C= (p.Pro580=) c.2086C= (p.Pro696=) c.2194C= (p.Pro732=) c.2158C= (p.Pro720=) c.2116C= (p.Pro706=) c.1680-6250C= (n.1680-6250C=) c.2212C= (p.Pro738=) c.2278C= (p.Pro760=) c.2275C= (p.Pro759=) c.2248C= (p.Pro750=) c.2167C= (p.Pro723=) c.2152C= (p.Pro718=) c.1759C= (p.Pro587=) c.2221C= (p.Pro741=) c.2155C= (p.Pro719=) c.2113C= (p.Pro705=) c.1186C= (p.Pro396=) | |
20 | g.63407093G>T | CA409638731 | KCNQ2 | c.2224C>A (p.Pro742Thr) c.2170C>A (p.Pro724Thr) c.1567C>A (p.Pro523Thr) c.2077C>A (p.Pro693Thr) c.1738C>A (p.Pro580Thr) c.2086C>A (p.Pro696Thr) c.2194C>A (p.Pro732Thr) c.2158C>A (p.Pro720Thr) c.2116C>A (p.Pro706Thr) c.1680-6250C>A (n.1680-6250C>A) c.2212C>A (p.Pro738Thr) c.2278C>A (p.Pro760Thr) c.2275C>A (p.Pro759Thr) c.2248C>A (p.Pro750Thr) c.2167C>A (p.Pro723Thr) c.2152C>A (p.Pro718Thr) c.1759C>A (p.Pro587Thr) c.2221C>A (p.Pro741Thr) c.2155C>A (p.Pro719Thr) c.2113C>A (p.Pro705Thr) c.1186C>A (p.Pro396Thr) | |
20 | g.63407094G>A | CA511339508 | KCNQ2 | c.2223C>T (p.His741=) c.2169C>T (p.His723=) c.1566C>T (p.His522=) c.2076C>T (p.His692=) c.1737C>T (p.His579=) c.2085C>T (p.His695=) c.2193C>T (p.His731=) c.2157C>T (p.His719=) c.2115C>T (p.His705=) c.1680-6251C>T (n.1680-6251C>T) c.2211C>T (p.His737=) c.2277C>T (p.His759=) c.2274C>T (p.His758=) c.2247C>T (p.His749=) c.2166C>T (p.His722=) c.2151C>T (p.His717=) c.1758C>T (p.His586=) c.2220C>T (p.His740=) c.2154C>T (p.His718=) c.2112C>T (p.His704=) c.1185C>T (p.His395=) | gnomAD v4 |
20 | g.63407094G>C | CA409638733 | KCNQ2 | c.2223C>G (p.His741Gln) c.2169C>G (p.His723Gln) c.1566C>G (p.His522Gln) c.2076C>G (p.His692Gln) c.1737C>G (p.His579Gln) c.2085C>G (p.His695Gln) c.2193C>G (p.His731Gln) c.2157C>G (p.His719Gln) c.2115C>G (p.His705Gln) c.1680-6251C>G (n.1680-6251C>G) c.2211C>G (p.His737Gln) c.2277C>G (p.His759Gln) c.2274C>G (p.His758Gln) c.2247C>G (p.His749Gln) c.2166C>G (p.His722Gln) c.2151C>G (p.His717Gln) c.1758C>G (p.His586Gln) c.2220C>G (p.His740Gln) c.2154C>G (p.His718Gln) c.2112C>G (p.His704Gln) c.1185C>G (p.His395Gln) | |
20 | g.63407094G>T | CA409638735 | KCNQ2 | c.2223C>A (p.His741Gln) c.2169C>A (p.His723Gln) c.1566C>A (p.His522Gln) c.2076C>A (p.His692Gln) c.1737C>A (p.His579Gln) c.2085C>A (p.His695Gln) c.2193C>A (p.His731Gln) c.2157C>A (p.His719Gln) c.2115C>A (p.His705Gln) c.1680-6251C>A (n.1680-6251C>A) c.2211C>A (p.His737Gln) c.2277C>A (p.His759Gln) c.2274C>A (p.His758Gln) c.2247C>A (p.His749Gln) c.2166C>A (p.His722Gln) c.2151C>A (p.His717Gln) c.1758C>A (p.His586Gln) c.2220C>A (p.His740Gln) c.2154C>A (p.His718Gln) c.2112C>A (p.His704Gln) c.1185C>A (p.His395Gln) | gnomAD v4 |
20 | g.63407095T>A | CA409638738 | KCNQ2 | c.2222A>T (p.His741Leu) c.2168A>T (p.His723Leu) c.1565A>T (p.His522Leu) c.2075A>T (p.His692Leu) c.1736A>T (p.His579Leu) c.2084A>T (p.His695Leu) c.2192A>T (p.His731Leu) c.2156A>T (p.His719Leu) c.2114A>T (p.His705Leu) c.1680-6252A>T (n.1680-6252A>T) c.2210A>T (p.His737Leu) c.2276A>T (p.His759Leu) c.2273A>T (p.His758Leu) c.2246A>T (p.His749Leu) c.2165A>T (p.His722Leu) c.2150A>T (p.His717Leu) c.1757A>T (p.His586Leu) c.2219A>T (p.His740Leu) c.2153A>T (p.His718Leu) c.2111A>T (p.His704Leu) c.1184A>T (p.His395Leu) | |
20 | g.63407095T>C | CA409638740 | KCNQ2 | c.2222A>G (p.His741Arg) c.2168A>G (p.His723Arg) c.1565A>G (p.His522Arg) c.2075A>G (p.His692Arg) c.1736A>G (p.His579Arg) c.2084A>G (p.His695Arg) c.2192A>G (p.His731Arg) c.2156A>G (p.His719Arg) c.2114A>G (p.His705Arg) c.1680-6252A>G (n.1680-6252A>G) c.2210A>G (p.His737Arg) c.2276A>G (p.His759Arg) c.2273A>G (p.His758Arg) c.2246A>G (p.His749Arg) c.2165A>G (p.His722Arg) c.2150A>G (p.His717Arg) c.1757A>G (p.His586Arg) c.2219A>G (p.His740Arg) c.2153A>G (p.His718Arg) c.2111A>G (p.His704Arg) c.1184A>G (p.His395Arg) | |
20 | g.63407095T>G | CA409638741 | KCNQ2 | c.2222A>C (p.His741Pro) c.2168A>C (p.His723Pro) c.1565A>C (p.His522Pro) c.2075A>C (p.His692Pro) c.1736A>C (p.His579Pro) c.2084A>C (p.His695Pro) c.2192A>C (p.His731Pro) c.2156A>C (p.His719Pro) c.2114A>C (p.His705Pro) c.1680-6252A>C (n.1680-6252A>C) c.2210A>C (p.His737Pro) c.2276A>C (p.His759Pro) c.2273A>C (p.His758Pro) c.2246A>C (p.His749Pro) c.2165A>C (p.His722Pro) c.2150A>C (p.His717Pro) c.1757A>C (p.His586Pro) c.2219A>C (p.His740Pro) c.2153A>C (p.His718Pro) c.2111A>C (p.His704Pro) c.1184A>C (p.His395Pro) | |
20 | g.63407096G>A | CA409638744 | KCNQ2 | c.2221C>T (p.His741Tyr) c.2167C>T (p.His723Tyr) c.1564C>T (p.His522Tyr) c.2074C>T (p.His692Tyr) c.1735C>T (p.His579Tyr) c.2083C>T (p.His695Tyr) c.2191C>T (p.His731Tyr) c.2155C>T (p.His719Tyr) c.2113C>T (p.His705Tyr) c.1680-6253C>T (n.1680-6253C>T) c.2209C>T (p.His737Tyr) c.2275C>T (p.His759Tyr) c.2272C>T (p.His758Tyr) c.2245C>T (p.His749Tyr) c.2164C>T (p.His722Tyr) c.2149C>T (p.His717Tyr) c.1756C>T (p.His586Tyr) c.2218C>T (p.His740Tyr) c.2152C>T (p.His718Tyr) c.2110C>T (p.His704Tyr) c.1183C>T (p.His395Tyr) | dbSNP gnomAD v4 |
20 | g.63407096G>C | CA409638745 | KCNQ2 | c.2221C>G (p.His741Asp) c.2167C>G (p.His723Asp) c.1564C>G (p.His522Asp) c.2074C>G (p.His692Asp) c.1735C>G (p.His579Asp) c.2083C>G (p.His695Asp) c.2191C>G (p.His731Asp) c.2155C>G (p.His719Asp) c.2113C>G (p.His705Asp) c.1680-6253C>G (n.1680-6253C>G) c.2209C>G (p.His737Asp) c.2275C>G (p.His759Asp) c.2272C>G (p.His758Asp) c.2245C>G (p.His749Asp) c.2164C>G (p.His722Asp) c.2149C>G (p.His717Asp) c.1756C>G (p.His586Asp) c.2218C>G (p.His740Asp) c.2152C>G (p.His718Asp) c.2110C>G (p.His704Asp) c.1183C>G (p.His395Asp) | gnomAD v4 |
20 | g.63407096G= | CA2374774418 | KCNQ2 | c.2221C= (p.His741=) c.2167C= (p.His723=) c.1564C= (p.His522=) c.2074C= (p.His692=) c.1735C= (p.His579=) c.2083C= (p.His695=) c.2191C= (p.His731=) c.2155C= (p.His719=) c.2113C= (p.His705=) c.1680-6253C= (n.1680-6253C=) c.2209C= (p.His737=) c.2275C= (p.His759=) c.2272C= (p.His758=) c.2245C= (p.His749=) c.2164C= (p.His722=) c.2149C= (p.His717=) c.1756C= (p.His586=) c.2218C= (p.His740=) c.2152C= (p.His718=) c.2110C= (p.His704=) c.1183C= (p.His395=) | |
20 | g.63407096G>T | CA409638747 | KCNQ2 | c.2221C>A (p.His741Asn) c.2167C>A (p.His723Asn) c.1564C>A (p.His522Asn) c.2074C>A (p.His692Asn) c.1735C>A (p.His579Asn) c.2083C>A (p.His695Asn) c.2191C>A (p.His731Asn) c.2155C>A (p.His719Asn) c.2113C>A (p.His705Asn) c.1680-6253C>A (n.1680-6253C>A) c.2209C>A (p.His737Asn) c.2275C>A (p.His759Asn) c.2272C>A (p.His758Asn) c.2245C>A (p.His749Asn) c.2164C>A (p.His722Asn) c.2149C>A (p.His717Asn) c.1756C>A (p.His586Asn) c.2218C>A (p.His740Asn) c.2152C>A (p.His718Asn) c.2110C>A (p.His704Asn) c.1183C>A (p.His395Asn) | gnomAD v4 |
20 | g.63407097G>A | CA511339509 | KCNQ2 | c.2220C>T (p.Ser740=) c.2166C>T (p.Ser722=) c.1563C>T (p.Ser521=) c.2073C>T (p.Ser691=) c.1734C>T (p.Ser578=) c.2082C>T (p.Ser694=) c.2190C>T (p.Ser730=) c.2154C>T (p.Ser718=) c.2112C>T (p.Ser704=) c.1680-6254C>T (n.1680-6254C>T) c.2208C>T (p.Ser736=) c.2274C>T (p.Ser758=) c.2271C>T (p.Ser757=) c.2244C>T (p.Ser748=) c.2163C>T (p.Ser721=) c.2148C>T (p.Ser716=) c.1755C>T (p.Ser585=) c.2217C>T (p.Ser739=) c.2151C>T (p.Ser717=) c.2109C>T (p.Ser703=) c.1182C>T (p.Ser394=) | gnomAD v4 |
20 | g.63407097G>C | CA409638750 | KCNQ2 | c.2220C>G (p.Ser740Arg) c.2166C>G (p.Ser722Arg) c.1563C>G (p.Ser521Arg) c.2073C>G (p.Ser691Arg) c.1734C>G (p.Ser578Arg) c.2082C>G (p.Ser694Arg) c.2190C>G (p.Ser730Arg) c.2154C>G (p.Ser718Arg) c.2112C>G (p.Ser704Arg) c.1680-6254C>G (n.1680-6254C>G) c.2208C>G (p.Ser736Arg) c.2274C>G (p.Ser758Arg) c.2271C>G (p.Ser757Arg) c.2244C>G (p.Ser748Arg) c.2163C>G (p.Ser721Arg) c.2148C>G (p.Ser716Arg) c.1755C>G (p.Ser585Arg) c.2217C>G (p.Ser739Arg) c.2151C>G (p.Ser717Arg) c.2109C>G (p.Ser703Arg) c.1182C>G (p.Ser394Arg) | |
20 | g.63407097G>T | CA409638751 | KCNQ2 | c.2220C>A (p.Ser740Arg) c.2166C>A (p.Ser722Arg) c.1563C>A (p.Ser521Arg) c.2073C>A (p.Ser691Arg) c.1734C>A (p.Ser578Arg) c.2082C>A (p.Ser694Arg) c.2190C>A (p.Ser730Arg) c.2154C>A (p.Ser718Arg) c.2112C>A (p.Ser704Arg) c.1680-6254C>A (n.1680-6254C>A) c.2208C>A (p.Ser736Arg) c.2274C>A (p.Ser758Arg) c.2271C>A (p.Ser757Arg) c.2244C>A (p.Ser748Arg) c.2163C>A (p.Ser721Arg) c.2148C>A (p.Ser716Arg) c.1755C>A (p.Ser585Arg) c.2217C>A (p.Ser739Arg) c.2151C>A (p.Ser717Arg) c.2109C>A (p.Ser703Arg) c.1182C>A (p.Ser394Arg) | gnomAD v4 |
20 | g.63407098C>A | CA409638754 | KCNQ2 | c.2219G>T (p.Ser740Ile) c.2165G>T (p.Ser722Ile) c.1562G>T (p.Ser521Ile) c.2072G>T (p.Ser691Ile) c.1733G>T (p.Ser578Ile) c.2081G>T (p.Ser694Ile) c.2189G>T (p.Ser730Ile) c.2153G>T (p.Ser718Ile) c.2111G>T (p.Ser704Ile) c.1680-6255G>T (n.1680-6255G>T) c.2207G>T (p.Ser736Ile) c.2273G>T (p.Ser758Ile) c.2270G>T (p.Ser757Ile) c.2243G>T (p.Ser748Ile) c.2162G>T (p.Ser721Ile) c.2147G>T (p.Ser716Ile) c.1754G>T (p.Ser585Ile) c.2216G>T (p.Ser739Ile) c.2150G>T (p.Ser717Ile) c.2108G>T (p.Ser703Ile) c.1181G>T (p.Ser394Ile) | gnomAD v4 |
20 | g.63407098C= | CA2374774419 | KCNQ2 | c.2219G= (p.Ser740=) c.2165G= (p.Ser722=) c.1562G= (p.Ser521=) c.2072G= (p.Ser691=) c.1733G= (p.Ser578=) c.2081G= (p.Ser694=) c.2189G= (p.Ser730=) c.2153G= (p.Ser718=) c.2111G= (p.Ser704=) c.1680-6255G= (n.1680-6255G=) c.2207G= (p.Ser736=) c.2273G= (p.Ser758=) c.2270G= (p.Ser757=) c.2243G= (p.Ser748=) c.2162G= (p.Ser721=) c.2147G= (p.Ser716=) c.1754G= (p.Ser585=) c.2216G= (p.Ser739=) c.2150G= (p.Ser717=) c.2108G= (p.Ser703=) c.1181G= (p.Ser394=) | |
20 | g.63407098C>G | CA409638756 | KCNQ2 | c.2219G>C (p.Ser740Thr) c.2165G>C (p.Ser722Thr) c.1562G>C (p.Ser521Thr) c.2072G>C (p.Ser691Thr) c.1733G>C (p.Ser578Thr) c.2081G>C (p.Ser694Thr) c.2189G>C (p.Ser730Thr) c.2153G>C (p.Ser718Thr) c.2111G>C (p.Ser704Thr) c.1680-6255G>C (n.1680-6255G>C) c.2207G>C (p.Ser736Thr) c.2273G>C (p.Ser758Thr) c.2270G>C (p.Ser757Thr) c.2243G>C (p.Ser748Thr) c.2162G>C (p.Ser721Thr) c.2147G>C (p.Ser716Thr) c.1754G>C (p.Ser585Thr) c.2216G>C (p.Ser739Thr) c.2150G>C (p.Ser717Thr) c.2108G>C (p.Ser703Thr) c.1181G>C (p.Ser394Thr) | |
20 | g.63407098C>T | CA317422206 | KCNQ2 | c.2219G>A (p.Ser740Asn) c.2165G>A (p.Ser722Asn) c.1562G>A (p.Ser521Asn) c.2072G>A (p.Ser691Asn) c.1733G>A (p.Ser578Asn) c.2081G>A (p.Ser694Asn) c.2189G>A (p.Ser730Asn) c.2153G>A (p.Ser718Asn) c.2111G>A (p.Ser704Asn) c.1680-6255G>A (n.1680-6255G>A) c.2207G>A (p.Ser736Asn) c.2273G>A (p.Ser758Asn) c.2270G>A (p.Ser757Asn) c.2243G>A (p.Ser748Asn) c.2162G>A (p.Ser721Asn) c.2147G>A (p.Ser716Asn) c.1754G>A (p.Ser585Asn) c.2216G>A (p.Ser739Asn) c.2150G>A (p.Ser717Asn) c.2108G>A (p.Ser703Asn) c.1181G>A (p.Ser394Asn) | ClinVar dbSNP gnomAD v4 |
20 | g.63407099T>A | CA409638759 | KCNQ2 | c.2218A>T (p.Ser740Cys) c.2164A>T (p.Ser722Cys) c.1561A>T (p.Ser521Cys) c.2071A>T (p.Ser691Cys) c.1732A>T (p.Ser578Cys) c.2080A>T (p.Ser694Cys) c.2188A>T (p.Ser730Cys) c.2152A>T (p.Ser718Cys) c.2110A>T (p.Ser704Cys) c.1680-6256A>T (n.1680-6256A>T) c.2206A>T (p.Ser736Cys) c.2272A>T (p.Ser758Cys) c.2269A>T (p.Ser757Cys) c.2242A>T (p.Ser748Cys) c.2161A>T (p.Ser721Cys) c.2146A>T (p.Ser716Cys) c.1753A>T (p.Ser585Cys) c.2215A>T (p.Ser739Cys) c.2149A>T (p.Ser717Cys) c.2107A>T (p.Ser703Cys) c.1180A>T (p.Ser394Cys) | |
20 | g.63407099T>C | CA409638761 | KCNQ2 | c.2218A>G (p.Ser740Gly) c.2164A>G (p.Ser722Gly) c.1561A>G (p.Ser521Gly) c.2071A>G (p.Ser691Gly) c.1732A>G (p.Ser578Gly) c.2080A>G (p.Ser694Gly) c.2188A>G (p.Ser730Gly) c.2152A>G (p.Ser718Gly) c.2110A>G (p.Ser704Gly) c.1680-6256A>G (n.1680-6256A>G) c.2206A>G (p.Ser736Gly) c.2272A>G (p.Ser758Gly) c.2269A>G (p.Ser757Gly) c.2242A>G (p.Ser748Gly) c.2161A>G (p.Ser721Gly) c.2146A>G (p.Ser716Gly) c.1753A>G (p.Ser585Gly) c.2215A>G (p.Ser739Gly) c.2149A>G (p.Ser717Gly) c.2107A>G (p.Ser703Gly) c.1180A>G (p.Ser394Gly) | gnomAD v4 |
20 | g.63407099T>G | CA409638763 | KCNQ2 | c.2218A>C (p.Ser740Arg) c.2164A>C (p.Ser722Arg) c.1561A>C (p.Ser521Arg) c.2071A>C (p.Ser691Arg) c.1732A>C (p.Ser578Arg) c.2080A>C (p.Ser694Arg) c.2188A>C (p.Ser730Arg) c.2152A>C (p.Ser718Arg) c.2110A>C (p.Ser704Arg) c.1680-6256A>C (n.1680-6256A>C) c.2206A>C (p.Ser736Arg) c.2272A>C (p.Ser758Arg) c.2269A>C (p.Ser757Arg) c.2242A>C (p.Ser748Arg) c.2161A>C (p.Ser721Arg) c.2146A>C (p.Ser716Arg) c.1753A>C (p.Ser585Arg) c.2215A>C (p.Ser739Arg) c.2149A>C (p.Ser717Arg) c.2107A>C (p.Ser703Arg) c.1180A>C (p.Ser394Arg) | |
20 | g.63407100C>A | CA409638765 | KCNQ2 | c.2217G>T (p.Gln739His) c.2163G>T (p.Gln721His) c.1560G>T (p.Gln520His) c.2070G>T (p.Gln690His) c.1731G>T (p.Gln577His) c.2079G>T (p.Gln693His) c.2187G>T (p.Gln729His) c.2151G>T (p.Gln717His) c.2109G>T (p.Gln703His) c.1680-6257G>T (n.1680-6257G>T) c.2205G>T (p.Gln735His) c.2271G>T (p.Gln757His) c.2268G>T (p.Gln756His) c.2241G>T (p.Gln747His) c.2160G>T (p.Gln720His) c.2145G>T (p.Gln715His) c.1752G>T (p.Gln584His) c.2214G>T (p.Gln738His) c.2148G>T (p.Gln716His) c.2106G>T (p.Gln702His) c.1179G>T (p.Gln393His) | gnomAD v4 |
20 | g.63407100C>G | CA409638767 | KCNQ2 | c.2217G>C (p.Gln739His) c.2163G>C (p.Gln721His) c.1560G>C (p.Gln520His) c.2070G>C (p.Gln690His) c.1731G>C (p.Gln577His) c.2079G>C (p.Gln693His) c.2187G>C (p.Gln729His) c.2151G>C (p.Gln717His) c.2109G>C (p.Gln703His) c.1680-6257G>C (n.1680-6257G>C) c.2205G>C (p.Gln735His) c.2271G>C (p.Gln757His) c.2268G>C (p.Gln756His) c.2241G>C (p.Gln747His) c.2160G>C (p.Gln720His) c.2145G>C (p.Gln715His) c.1752G>C (p.Gln584His) c.2214G>C (p.Gln738His) c.2148G>C (p.Gln716His) c.2106G>C (p.Gln702His) c.1179G>C (p.Gln393His) | |
20 | g.63407100C>T | CA511339510 | KCNQ2 | c.2217G>A (p.Gln739=) c.2163G>A (p.Gln721=) c.1560G>A (p.Gln520=) c.2070G>A (p.Gln690=) c.1731G>A (p.Gln577=) c.2079G>A (p.Gln693=) c.2187G>A (p.Gln729=) c.2151G>A (p.Gln717=) c.2109G>A (p.Gln703=) c.1680-6257G>A (n.1680-6257G>A) c.2205G>A (p.Gln735=) c.2271G>A (p.Gln757=) c.2268G>A (p.Gln756=) c.2241G>A (p.Gln747=) c.2160G>A (p.Gln720=) c.2145G>A (p.Gln715=) c.1752G>A (p.Gln584=) c.2214G>A (p.Gln738=) c.2148G>A (p.Gln716=) c.2106G>A (p.Gln702=) c.1179G>A (p.Gln393=) | gnomAD v4 |
20 | g.63407101T>A | CA409638770 | KCNQ2 | c.2216A>T (p.Gln739Leu) c.2162A>T (p.Gln721Leu) c.1559A>T (p.Gln520Leu) c.2069A>T (p.Gln690Leu) c.1730A>T (p.Gln577Leu) c.2078A>T (p.Gln693Leu) c.2186A>T (p.Gln729Leu) c.2150A>T (p.Gln717Leu) c.2108A>T (p.Gln703Leu) c.1680-6258A>T (n.1680-6258A>T) c.2204A>T (p.Gln735Leu) c.2270A>T (p.Gln757Leu) c.2267A>T (p.Gln756Leu) c.2240A>T (p.Gln747Leu) c.2159A>T (p.Gln720Leu) c.2144A>T (p.Gln715Leu) c.1751A>T (p.Gln584Leu) c.2213A>T (p.Gln738Leu) c.2147A>T (p.Gln716Leu) c.2105A>T (p.Gln702Leu) c.1178A>T (p.Gln393Leu) | |
20 | g.63407101T>C | CA409638771 | KCNQ2 | c.2216A>G (p.Gln739Arg) c.2162A>G (p.Gln721Arg) c.1559A>G (p.Gln520Arg) c.2069A>G (p.Gln690Arg) c.1730A>G (p.Gln577Arg) c.2078A>G (p.Gln693Arg) c.2186A>G (p.Gln729Arg) c.2150A>G (p.Gln717Arg) c.2108A>G (p.Gln703Arg) c.1680-6258A>G (n.1680-6258A>G) c.2204A>G (p.Gln735Arg) c.2270A>G (p.Gln757Arg) c.2267A>G (p.Gln756Arg) c.2240A>G (p.Gln747Arg) c.2159A>G (p.Gln720Arg) c.2144A>G (p.Gln715Arg) c.1751A>G (p.Gln584Arg) c.2213A>G (p.Gln738Arg) c.2147A>G (p.Gln716Arg) c.2105A>G (p.Gln702Arg) c.1178A>G (p.Gln393Arg) | ClinVar gnomAD v4 |
20 | g.63407101T>G | CA409638773 | KCNQ2 | c.2216A>C (p.Gln739Pro) c.2162A>C (p.Gln721Pro) c.1559A>C (p.Gln520Pro) c.2069A>C (p.Gln690Pro) c.1730A>C (p.Gln577Pro) c.2078A>C (p.Gln693Pro) c.2186A>C (p.Gln729Pro) c.2150A>C (p.Gln717Pro) c.2108A>C (p.Gln703Pro) c.1680-6258A>C (n.1680-6258A>C) c.2204A>C (p.Gln735Pro) c.2270A>C (p.Gln757Pro) c.2267A>C (p.Gln756Pro) c.2240A>C (p.Gln747Pro) c.2159A>C (p.Gln720Pro) c.2144A>C (p.Gln715Pro) c.1751A>C (p.Gln584Pro) c.2213A>C (p.Gln738Pro) c.2147A>C (p.Gln716Pro) c.2105A>C (p.Gln702Pro) c.1178A>C (p.Gln393Pro) | |
20 | g.63407102G>A | CA409638775 | KCNQ2 | c.2215C>T (p.Gln739Ter) c.2161C>T (p.Gln721Ter) c.1558C>T (p.Gln520Ter) c.2068C>T (p.Gln690Ter) c.1729C>T (p.Gln577Ter) c.2077C>T (p.Gln693Ter) c.2185C>T (p.Gln729Ter) c.2149C>T (p.Gln717Ter) c.2107C>T (p.Gln703Ter) c.1680-6259C>T (n.1680-6259C>T) c.2203C>T (p.Gln735Ter) c.2269C>T (p.Gln757Ter) c.2266C>T (p.Gln756Ter) c.2239C>T (p.Gln747Ter) c.2158C>T (p.Gln720Ter) c.2143C>T (p.Gln715Ter) c.1750C>T (p.Gln584Ter) c.2212C>T (p.Gln738Ter) c.2146C>T (p.Gln716Ter) c.2104C>T (p.Gln702Ter) c.1177C>T (p.Gln393Ter) | gnomAD v4 |
20 | g.63407102G>C | CA409638777 | KCNQ2 | c.2215C>G (p.Gln739Glu) c.2161C>G (p.Gln721Glu) c.1558C>G (p.Gln520Glu) c.2068C>G (p.Gln690Glu) c.1729C>G (p.Gln577Glu) c.2077C>G (p.Gln693Glu) c.2185C>G (p.Gln729Glu) c.2149C>G (p.Gln717Glu) c.2107C>G (p.Gln703Glu) c.1680-6259C>G (n.1680-6259C>G) c.2203C>G (p.Gln735Glu) c.2269C>G (p.Gln757Glu) c.2266C>G (p.Gln756Glu) c.2239C>G (p.Gln747Glu) c.2158C>G (p.Gln720Glu) c.2143C>G (p.Gln715Glu) c.1750C>G (p.Gln584Glu) c.2212C>G (p.Gln738Glu) c.2146C>G (p.Gln716Glu) c.2104C>G (p.Gln702Glu) c.1177C>G (p.Gln393Glu) | |
20 | g.63407102G>T | CA409638779 | KCNQ2 | c.2215C>A (p.Gln739Lys) c.2161C>A (p.Gln721Lys) c.1558C>A (p.Gln520Lys) c.2068C>A (p.Gln690Lys) c.1729C>A (p.Gln577Lys) c.2077C>A (p.Gln693Lys) c.2185C>A (p.Gln729Lys) c.2149C>A (p.Gln717Lys) c.2107C>A (p.Gln703Lys) c.1680-6259C>A (n.1680-6259C>A) c.2203C>A (p.Gln735Lys) c.2269C>A (p.Gln757Lys) c.2266C>A (p.Gln756Lys) c.2239C>A (p.Gln747Lys) c.2158C>A (p.Gln720Lys) c.2143C>A (p.Gln715Lys) c.1750C>A (p.Gln584Lys) c.2212C>A (p.Gln738Lys) c.2146C>A (p.Gln716Lys) c.2104C>A (p.Gln702Lys) c.1177C>A (p.Gln393Lys) | dbSNP gnomAD v4 |
20 | g.63407103T>A | CA511339511 | KCNQ2 | c.2214A>T (p.Pro738=) c.2160A>T (p.Pro720=) c.1557A>T (p.Pro519=) c.2067A>T (p.Pro689=) c.1728A>T (p.Pro576=) c.2076A>T (p.Pro692=) c.2184A>T (p.Pro728=) c.2148A>T (p.Pro716=) c.2106A>T (p.Pro702=) c.1680-6260A>T (n.1680-6260A>T) c.2202A>T (p.Pro734=) c.2268A>T (p.Pro756=) c.2265A>T (p.Pro755=) c.2238A>T (p.Pro746=) c.2157A>T (p.Pro719=) c.2142A>T (p.Pro714=) c.1749A>T (p.Pro583=) c.2211A>T (p.Pro737=) c.2145A>T (p.Pro715=) c.2103A>T (p.Pro701=) c.1176A>T (p.Pro392=) | |
20 | g.63407103T>C | CA511339512 | KCNQ2 | c.2214A>G (p.Pro738=) c.2160A>G (p.Pro720=) c.1557A>G (p.Pro519=) c.2067A>G (p.Pro689=) c.1728A>G (p.Pro576=) c.2076A>G (p.Pro692=) c.2184A>G (p.Pro728=) c.2148A>G (p.Pro716=) c.2106A>G (p.Pro702=) c.1680-6260A>G (n.1680-6260A>G) c.2202A>G (p.Pro734=) c.2268A>G (p.Pro756=) c.2265A>G (p.Pro755=) c.2238A>G (p.Pro746=) c.2157A>G (p.Pro719=) c.2142A>G (p.Pro714=) c.1749A>G (p.Pro583=) c.2211A>G (p.Pro737=) c.2145A>G (p.Pro715=) c.2103A>G (p.Pro701=) c.1176A>G (p.Pro392=) | |
20 | g.63407103T>G | CA511339513 | KCNQ2 | c.2214A>C (p.Pro738=) c.2160A>C (p.Pro720=) c.1557A>C (p.Pro519=) c.2067A>C (p.Pro689=) c.1728A>C (p.Pro576=) c.2076A>C (p.Pro692=) c.2184A>C (p.Pro728=) c.2148A>C (p.Pro716=) c.2106A>C (p.Pro702=) c.1680-6260A>C (n.1680-6260A>C) c.2202A>C (p.Pro734=) c.2268A>C (p.Pro756=) c.2265A>C (p.Pro755=) c.2238A>C (p.Pro746=) c.2157A>C (p.Pro719=) c.2142A>C (p.Pro714=) c.1749A>C (p.Pro583=) c.2211A>C (p.Pro737=) c.2145A>C (p.Pro715=) c.2103A>C (p.Pro701=) c.1176A>C (p.Pro392=) | |
20 | g.63407104G>A | CA409638785 | KCNQ2 | c.2213C>T (p.Pro738Leu) c.2159C>T (p.Pro720Leu) c.1556C>T (p.Pro519Leu) c.2066C>T (p.Pro689Leu) c.1727C>T (p.Pro576Leu) c.2075C>T (p.Pro692Leu) c.2183C>T (p.Pro728Leu) c.2147C>T (p.Pro716Leu) c.2105C>T (p.Pro702Leu) c.1680-6261C>T (n.1680-6261C>T) c.2201C>T (p.Pro734Leu) c.2267C>T (p.Pro756Leu) c.2264C>T (p.Pro755Leu) c.2237C>T (p.Pro746Leu) c.2156C>T (p.Pro719Leu) c.2141C>T (p.Pro714Leu) c.1748C>T (p.Pro583Leu) c.2210C>T (p.Pro737Leu) c.2144C>T (p.Pro715Leu) c.2102C>T (p.Pro701Leu) c.1175C>T (p.Pro392Leu) | |
20 | g.63407104G>C | CA409638783 | KCNQ2 | c.2213C>G (p.Pro738Arg) c.2159C>G (p.Pro720Arg) c.1556C>G (p.Pro519Arg) c.2066C>G (p.Pro689Arg) c.1727C>G (p.Pro576Arg) c.2075C>G (p.Pro692Arg) c.2183C>G (p.Pro728Arg) c.2147C>G (p.Pro716Arg) c.2105C>G (p.Pro702Arg) c.1680-6261C>G (n.1680-6261C>G) c.2201C>G (p.Pro734Arg) c.2267C>G (p.Pro756Arg) c.2264C>G (p.Pro755Arg) c.2237C>G (p.Pro746Arg) c.2156C>G (p.Pro719Arg) c.2141C>G (p.Pro714Arg) c.1748C>G (p.Pro583Arg) c.2210C>G (p.Pro737Arg) c.2144C>G (p.Pro715Arg) c.2102C>G (p.Pro701Arg) c.1175C>G (p.Pro392Arg) | |
20 | g.63407104G>T | CA409638781 | KCNQ2 | c.2213C>A (p.Pro738Gln) c.2159C>A (p.Pro720Gln) c.1556C>A (p.Pro519Gln) c.2066C>A (p.Pro689Gln) c.1727C>A (p.Pro576Gln) c.2075C>A (p.Pro692Gln) c.2183C>A (p.Pro728Gln) c.2147C>A (p.Pro716Gln) c.2105C>A (p.Pro702Gln) c.1680-6261C>A (n.1680-6261C>A) c.2201C>A (p.Pro734Gln) c.2267C>A (p.Pro756Gln) c.2264C>A (p.Pro755Gln) c.2237C>A (p.Pro746Gln) c.2156C>A (p.Pro719Gln) c.2141C>A (p.Pro714Gln) c.1748C>A (p.Pro583Gln) c.2210C>A (p.Pro737Gln) c.2144C>A (p.Pro715Gln) c.2102C>A (p.Pro701Gln) c.1175C>A (p.Pro392Gln) | gnomAD v4 |
20 | g.63407105G>A | CA409638789 | KCNQ2 | c.2212C>T (p.Pro738Ser) c.2158C>T (p.Pro720Ser) c.1555C>T (p.Pro519Ser) c.2065C>T (p.Pro689Ser) c.1726C>T (p.Pro576Ser) c.2074C>T (p.Pro692Ser) c.2182C>T (p.Pro728Ser) c.2146C>T (p.Pro716Ser) c.2104C>T (p.Pro702Ser) c.1680-6262C>T (n.1680-6262C>T) c.2200C>T (p.Pro734Ser) c.2266C>T (p.Pro756Ser) c.2263C>T (p.Pro755Ser) c.2236C>T (p.Pro746Ser) c.2155C>T (p.Pro719Ser) c.2140C>T (p.Pro714Ser) c.1747C>T (p.Pro583Ser) c.2209C>T (p.Pro737Ser) c.2143C>T (p.Pro715Ser) c.2101C>T (p.Pro701Ser) c.1174C>T (p.Pro392Ser) | gnomAD v4 |
20 | g.63407105G>C | CA409638787 | KCNQ2 | c.2212C>G (p.Pro738Ala) c.2158C>G (p.Pro720Ala) c.1555C>G (p.Pro519Ala) c.2065C>G (p.Pro689Ala) c.1726C>G (p.Pro576Ala) c.2074C>G (p.Pro692Ala) c.2182C>G (p.Pro728Ala) c.2146C>G (p.Pro716Ala) c.2104C>G (p.Pro702Ala) c.1680-6262C>G (n.1680-6262C>G) c.2200C>G (p.Pro734Ala) c.2266C>G (p.Pro756Ala) c.2263C>G (p.Pro755Ala) c.2236C>G (p.Pro746Ala) c.2155C>G (p.Pro719Ala) c.2140C>G (p.Pro714Ala) c.1747C>G (p.Pro583Ala) c.2209C>G (p.Pro737Ala) c.2143C>G (p.Pro715Ala) c.2101C>G (p.Pro701Ala) c.1174C>G (p.Pro392Ala) | |
20 | g.63407105G>T | CA409638791 | KCNQ2 | c.2212C>A (p.Pro738Thr) c.2158C>A (p.Pro720Thr) c.1555C>A (p.Pro519Thr) c.2065C>A (p.Pro689Thr) c.1726C>A (p.Pro576Thr) c.2074C>A (p.Pro692Thr) c.2182C>A (p.Pro728Thr) c.2146C>A (p.Pro716Thr) c.2104C>A (p.Pro702Thr) c.1680-6262C>A (n.1680-6262C>A) c.2200C>A (p.Pro734Thr) c.2266C>A (p.Pro756Thr) c.2263C>A (p.Pro755Thr) c.2236C>A (p.Pro746Thr) c.2155C>A (p.Pro719Thr) c.2140C>A (p.Pro714Thr) c.1747C>A (p.Pro583Thr) c.2209C>A (p.Pro737Thr) c.2143C>A (p.Pro715Thr) c.2101C>A (p.Pro701Thr) c.1174C>A (p.Pro392Thr) | dbSNP gnomAD v4 |
20 | g.63407106C>A | CA409638794 | KCNQ2 | c.2211G>T (p.Gln737His) c.2157G>T (p.Gln719His) c.1554G>T (p.Gln518His) c.2064G>T (p.Gln688His) c.1725G>T (p.Gln575His) c.2073G>T (p.Gln691His) c.2181G>T (p.Gln727His) c.2145G>T (p.Gln715His) c.2103G>T (p.Gln701His) c.1680-6263G>T (n.1680-6263G>T) c.2199G>T (p.Gln733His) c.2265G>T (p.Gln755His) c.2262G>T (p.Gln754His) c.2235G>T (p.Gln745His) c.2154G>T (p.Gln718His) c.2139G>T (p.Gln713His) c.1746G>T (p.Gln582His) c.2208G>T (p.Gln736His) c.2142G>T (p.Gln714His) c.2100G>T (p.Gln700His) c.1173G>T (p.Gln391His) | gnomAD v4 |
20 | g.63407106C= | CA2374774420 | KCNQ2 | c.2211G= (p.Gln737=) c.2157G= (p.Gln719=) c.1554G= (p.Gln518=) c.2064G= (p.Gln688=) c.1725G= (p.Gln575=) c.2073G= (p.Gln691=) c.2181G= (p.Gln727=) c.2145G= (p.Gln715=) c.2103G= (p.Gln701=) c.1680-6263G= (n.1680-6263G=) c.2199G= (p.Gln733=) c.2265G= (p.Gln755=) c.2262G= (p.Gln754=) c.2235G= (p.Gln745=) c.2154G= (p.Gln718=) c.2139G= (p.Gln713=) c.1746G= (p.Gln582=) c.2208G= (p.Gln736=) c.2142G= (p.Gln714=) c.2100G= (p.Gln700=) c.1173G= (p.Gln391=) | |
20 | g.63407106C>G | CA409638795 | KCNQ2 | c.2211G>C (p.Gln737His) c.2157G>C (p.Gln719His) c.1554G>C (p.Gln518His) c.2064G>C (p.Gln688His) c.1725G>C (p.Gln575His) c.2073G>C (p.Gln691His) c.2181G>C (p.Gln727His) c.2145G>C (p.Gln715His) c.2103G>C (p.Gln701His) c.1680-6263G>C (n.1680-6263G>C) c.2199G>C (p.Gln733His) c.2265G>C (p.Gln755His) c.2262G>C (p.Gln754His) c.2235G>C (p.Gln745His) c.2154G>C (p.Gln718His) c.2139G>C (p.Gln713His) c.1746G>C (p.Gln582His) c.2208G>C (p.Gln736His) c.2142G>C (p.Gln714His) c.2100G>C (p.Gln700His) c.1173G>C (p.Gln391His) | |
20 | g.63407106C>T | CA511339514 | KCNQ2 | c.2211G>A (p.Gln737=) c.2157G>A (p.Gln719=) c.1554G>A (p.Gln518=) c.2064G>A (p.Gln688=) c.1725G>A (p.Gln575=) c.2073G>A (p.Gln691=) c.2181G>A (p.Gln727=) c.2145G>A (p.Gln715=) c.2103G>A (p.Gln701=) c.1680-6263G>A (n.1680-6263G>A) c.2199G>A (p.Gln733=) c.2265G>A (p.Gln755=) c.2262G>A (p.Gln754=) c.2235G>A (p.Gln745=) c.2154G>A (p.Gln718=) c.2139G>A (p.Gln713=) c.1746G>A (p.Gln582=) c.2208G>A (p.Gln736=) c.2142G>A (p.Gln714=) c.2100G>A (p.Gln700=) c.1173G>A (p.Gln391=) | ClinVar dbSNP gnomAD v4 |
20 | g.63407107del | CA2697547449 | KCNQ2 | c.2210del (p.Gln737ArgfsTer?) c.2156del (p.Gln719ArgfsTer?) c.1553del (p.Gln518ArgfsTer?) c.2063del (p.Gln688ArgfsTer?) c.1724del (p.Gln575ArgfsTer?) c.2072del (p.Gln691ArgfsTer?) c.2180del (p.Gln727ArgfsTer?) c.2144del (p.Gln715ArgfsTer?) c.2102del (p.Gln701ArgfsTer?) c.1680-6264del (n.1680-6264del) c.2198del (p.Gln733ArgfsTer?) c.2264del (p.Gln755ArgfsTer?) c.2261del (p.Gln754ArgfsTer?) c.2234del (p.Gln745ArgfsTer?) c.2153del (p.Gln718ArgfsTer?) c.2138del (p.Gln713ArgfsTer?) c.1745del (p.Gln582ArgfsTer?) c.2207del (p.Gln736ArgfsTer?) c.2141del (p.Gln714ArgfsTer?) c.2099del (p.Gln700ArgfsTer?) c.1172del (p.Gln391ArgfsTer?) | ClinVar |
20 | g.63407107T>A | CA409638798 | KCNQ2 | c.2210A>T (p.Gln737Leu) c.2156A>T (p.Gln719Leu) c.1553A>T (p.Gln518Leu) c.2063A>T (p.Gln688Leu) c.1724A>T (p.Gln575Leu) c.2072A>T (p.Gln691Leu) c.2180A>T (p.Gln727Leu) c.2144A>T (p.Gln715Leu) c.2102A>T (p.Gln701Leu) c.1680-6264A>T (n.1680-6264A>T) c.2198A>T (p.Gln733Leu) c.2264A>T (p.Gln755Leu) c.2261A>T (p.Gln754Leu) c.2234A>T (p.Gln745Leu) c.2153A>T (p.Gln718Leu) c.2138A>T (p.Gln713Leu) c.1745A>T (p.Gln582Leu) c.2207A>T (p.Gln736Leu) c.2141A>T (p.Gln714Leu) c.2099A>T (p.Gln700Leu) c.1172A>T (p.Gln391Leu) | |
20 | g.63407107T>C | CA409638800 | KCNQ2 | c.2210A>G (p.Gln737Arg) c.2156A>G (p.Gln719Arg) c.1553A>G (p.Gln518Arg) c.2063A>G (p.Gln688Arg) c.1724A>G (p.Gln575Arg) c.2072A>G (p.Gln691Arg) c.2180A>G (p.Gln727Arg) c.2144A>G (p.Gln715Arg) c.2102A>G (p.Gln701Arg) c.1680-6264A>G (n.1680-6264A>G) c.2198A>G (p.Gln733Arg) c.2264A>G (p.Gln755Arg) c.2261A>G (p.Gln754Arg) c.2234A>G (p.Gln745Arg) c.2153A>G (p.Gln718Arg) c.2138A>G (p.Gln713Arg) c.1745A>G (p.Gln582Arg) c.2207A>G (p.Gln736Arg) c.2141A>G (p.Gln714Arg) c.2099A>G (p.Gln700Arg) c.1172A>G (p.Gln391Arg) | gnomAD v4 |
20 | g.63407107T>G | CA409638801 | KCNQ2 | c.2210A>C (p.Gln737Pro) c.2156A>C (p.Gln719Pro) c.1553A>C (p.Gln518Pro) c.2063A>C (p.Gln688Pro) c.1724A>C (p.Gln575Pro) c.2072A>C (p.Gln691Pro) c.2180A>C (p.Gln727Pro) c.2144A>C (p.Gln715Pro) c.2102A>C (p.Gln701Pro) c.1680-6264A>C (n.1680-6264A>C) c.2198A>C (p.Gln733Pro) c.2264A>C (p.Gln755Pro) c.2261A>C (p.Gln754Pro) c.2234A>C (p.Gln745Pro) c.2153A>C (p.Gln718Pro) c.2138A>C (p.Gln713Pro) c.1745A>C (p.Gln582Pro) c.2207A>C (p.Gln736Pro) c.2141A>C (p.Gln714Pro) c.2099A>C (p.Gln700Pro) c.1172A>C (p.Gln391Pro) | |
20 | g.63407108G>A | CA409638805 | KCNQ2 | c.2209C>T (p.Gln737Ter) c.2155C>T (p.Gln719Ter) c.1552C>T (p.Gln518Ter) c.2062C>T (p.Gln688Ter) c.1723C>T (p.Gln575Ter) c.2071C>T (p.Gln691Ter) c.2179C>T (p.Gln727Ter) c.2143C>T (p.Gln715Ter) c.2101C>T (p.Gln701Ter) c.1680-6265C>T (n.1680-6265C>T) c.2197C>T (p.Gln733Ter) c.2263C>T (p.Gln755Ter) c.2260C>T (p.Gln754Ter) c.2233C>T (p.Gln745Ter) c.2152C>T (p.Gln718Ter) c.2137C>T (p.Gln713Ter) c.1744C>T (p.Gln582Ter) c.2206C>T (p.Gln736Ter) c.2140C>T (p.Gln714Ter) c.2098C>T (p.Gln700Ter) c.1171C>T (p.Gln391Ter) | gnomAD v4 |
20 | g.63407108G>C | CA409638806 | KCNQ2 | c.2209C>G (p.Gln737Glu) c.2155C>G (p.Gln719Glu) c.1552C>G (p.Gln518Glu) c.2062C>G (p.Gln688Glu) c.1723C>G (p.Gln575Glu) c.2071C>G (p.Gln691Glu) c.2179C>G (p.Gln727Glu) c.2143C>G (p.Gln715Glu) c.2101C>G (p.Gln701Glu) c.1680-6265C>G (n.1680-6265C>G) c.2197C>G (p.Gln733Glu) c.2263C>G (p.Gln755Glu) c.2260C>G (p.Gln754Glu) c.2233C>G (p.Gln745Glu) c.2152C>G (p.Gln718Glu) c.2137C>G (p.Gln713Glu) c.1744C>G (p.Gln582Glu) c.2206C>G (p.Gln736Glu) c.2140C>G (p.Gln714Glu) c.2098C>G (p.Gln700Glu) c.1171C>G (p.Gln391Glu) | |
20 | g.63407108G>T | CA409638809 | KCNQ2 | c.2209C>A (p.Gln737Lys) c.2155C>A (p.Gln719Lys) c.1552C>A (p.Gln518Lys) c.2062C>A (p.Gln688Lys) c.1723C>A (p.Gln575Lys) c.2071C>A (p.Gln691Lys) c.2179C>A (p.Gln727Lys) c.2143C>A (p.Gln715Lys) c.2101C>A (p.Gln701Lys) c.1680-6265C>A (n.1680-6265C>A) c.2197C>A (p.Gln733Lys) c.2263C>A (p.Gln755Lys) c.2260C>A (p.Gln754Lys) c.2233C>A (p.Gln745Lys) c.2152C>A (p.Gln718Lys) c.2137C>A (p.Gln713Lys) c.1744C>A (p.Gln582Lys) c.2206C>A (p.Gln736Lys) c.2140C>A (p.Gln714Lys) c.2098C>A (p.Gln700Lys) c.1171C>A (p.Gln391Lys) | gnomAD v4 |
20 | g.63407109C>A | CA409638811 | KCNQ2 | c.2208G>T (p.Trp736Cys) c.2154G>T (p.Trp718Cys) c.1551G>T (p.Trp517Cys) c.2061G>T (p.Trp687Cys) c.1722G>T (p.Trp574Cys) c.2070G>T (p.Trp690Cys) c.2178G>T (p.Trp726Cys) c.2142G>T (p.Trp714Cys) c.2100G>T (p.Trp700Cys) c.1680-6266G>T (n.1680-6266G>T) c.2196G>T (p.Trp732Cys) c.2262G>T (p.Trp754Cys) c.2259G>T (p.Trp753Cys) c.2232G>T (p.Trp744Cys) c.2151G>T (p.Trp717Cys) c.2136G>T (p.Trp712Cys) c.1743G>T (p.Trp581Cys) c.2205G>T (p.Trp735Cys) c.2139G>T (p.Trp713Cys) c.2097G>T (p.Trp699Cys) c.1170G>T (p.Trp390Cys) | gnomAD v4 |
20 | g.63407109C>G | CA409638812 | KCNQ2 | c.2208G>C (p.Trp736Cys) c.2154G>C (p.Trp718Cys) c.1551G>C (p.Trp517Cys) c.2061G>C (p.Trp687Cys) c.1722G>C (p.Trp574Cys) c.2070G>C (p.Trp690Cys) c.2178G>C (p.Trp726Cys) c.2142G>C (p.Trp714Cys) c.2100G>C (p.Trp700Cys) c.1680-6266G>C (n.1680-6266G>C) c.2196G>C (p.Trp732Cys) c.2262G>C (p.Trp754Cys) c.2259G>C (p.Trp753Cys) c.2232G>C (p.Trp744Cys) c.2151G>C (p.Trp717Cys) c.2136G>C (p.Trp712Cys) c.1743G>C (p.Trp581Cys) c.2205G>C (p.Trp735Cys) c.2139G>C (p.Trp713Cys) c.2097G>C (p.Trp699Cys) c.1170G>C (p.Trp390Cys) | |
20 | g.63407109C>T | CA409638814 | KCNQ2 | c.2208G>A (p.Trp736Ter) c.2154G>A (p.Trp718Ter) c.1551G>A (p.Trp517Ter) c.2061G>A (p.Trp687Ter) c.1722G>A (p.Trp574Ter) c.2070G>A (p.Trp690Ter) c.2178G>A (p.Trp726Ter) c.2142G>A (p.Trp714Ter) c.2100G>A (p.Trp700Ter) c.1680-6266G>A (n.1680-6266G>A) c.2196G>A (p.Trp732Ter) c.2262G>A (p.Trp754Ter) c.2259G>A (p.Trp753Ter) c.2232G>A (p.Trp744Ter) c.2151G>A (p.Trp717Ter) c.2136G>A (p.Trp712Ter) c.1743G>A (p.Trp581Ter) c.2205G>A (p.Trp735Ter) c.2139G>A (p.Trp713Ter) c.2097G>A (p.Trp699Ter) c.1170G>A (p.Trp390Ter) | ClinVar gnomAD v4 |
20 | g.63407110C>A | CA409638820 | KCNQ2 | c.2207G>T (p.Trp736Leu) c.2153G>T (p.Trp718Leu) c.1550G>T (p.Trp517Leu) c.2060G>T (p.Trp687Leu) c.1721G>T (p.Trp574Leu) c.2069G>T (p.Trp690Leu) c.2177G>T (p.Trp726Leu) c.2141G>T (p.Trp714Leu) c.2099G>T (p.Trp700Leu) c.1680-6267G>T (n.1680-6267G>T) c.2195G>T (p.Trp732Leu) c.2261G>T (p.Trp754Leu) c.2258G>T (p.Trp753Leu) c.2231G>T (p.Trp744Leu) c.2150G>T (p.Trp717Leu) c.2135G>T (p.Trp712Leu) c.1742G>T (p.Trp581Leu) c.2204G>T (p.Trp735Leu) c.2138G>T (p.Trp713Leu) c.2096G>T (p.Trp699Leu) c.1169G>T (p.Trp390Leu) | |
20 | g.63407110C>G | CA409638818 | KCNQ2 | c.2207G>C (p.Trp736Ser) c.2153G>C (p.Trp718Ser) c.1550G>C (p.Trp517Ser) c.2060G>C (p.Trp687Ser) c.1721G>C (p.Trp574Ser) c.2069G>C (p.Trp690Ser) c.2177G>C (p.Trp726Ser) c.2141G>C (p.Trp714Ser) c.2099G>C (p.Trp700Ser) c.1680-6267G>C (n.1680-6267G>C) c.2195G>C (p.Trp732Ser) c.2261G>C (p.Trp754Ser) c.2258G>C (p.Trp753Ser) c.2231G>C (p.Trp744Ser) c.2150G>C (p.Trp717Ser) c.2135G>C (p.Trp712Ser) c.1742G>C (p.Trp581Ser) c.2204G>C (p.Trp735Ser) c.2138G>C (p.Trp713Ser) c.2096G>C (p.Trp699Ser) c.1169G>C (p.Trp390Ser) | |
20 | g.63407110C>T | CA409638817 | KCNQ2 | c.2207G>A (p.Trp736Ter) c.2153G>A (p.Trp718Ter) c.1550G>A (p.Trp517Ter) c.2060G>A (p.Trp687Ter) c.1721G>A (p.Trp574Ter) c.2069G>A (p.Trp690Ter) c.2177G>A (p.Trp726Ter) c.2141G>A (p.Trp714Ter) c.2099G>A (p.Trp700Ter) c.1680-6267G>A (n.1680-6267G>A) c.2195G>A (p.Trp732Ter) c.2261G>A (p.Trp754Ter) c.2258G>A (p.Trp753Ter) c.2231G>A (p.Trp744Ter) c.2150G>A (p.Trp717Ter) c.2135G>A (p.Trp712Ter) c.1742G>A (p.Trp581Ter) c.2204G>A (p.Trp735Ter) c.2138G>A (p.Trp713Ter) c.2096G>A (p.Trp699Ter) c.1169G>A (p.Trp390Ter) | |
20 | g.63407110_63407113delinsCAGG | CA2374774421 | KCNQ2 | c.2204_2207delinsCCTG (p.Ser735=) c.2150_2153delinsCCTG (p.Ser717=) c.1547_1550delinsCCTG (p.Ser516=) c.2057_2060delinsCCTG (p.Ser686=) c.1718_1721delinsCCTG (p.Ser573=) c.2066_2069delinsCCTG (p.Ser689=) c.2174_2177delinsCCTG (p.Ser725=) c.2138_2141delinsCCTG (p.Ser713=) c.2096_2099delinsCCTG (p.Ser699=) c.1680-6270_1680-6267delinsCCTG (n.1680-6270_1680-6267delinsCCTG) c.2192_2195delinsCCTG (p.Ser731=) c.2258_2261delinsCCTG (p.Ser753=) c.2255_2258delinsCCTG (p.Ser752=) c.2228_2231delinsCCTG (p.Ser743=) c.2147_2150delinsCCTG (p.Ser716=) c.2132_2135delinsCCTG (p.Ser711=) c.1739_1742delinsCCTG (p.Ser580=) c.2201_2204delinsCCTG (p.Ser734=) c.2135_2138delinsCCTG (p.Ser712=) c.2093_2096delinsCCTG (p.Ser698=) c.1166_1169delinsCCTG (p.Ser389=) | |
20 | g.63407111A>C | CA409638822 | KCNQ2 | c.2206T>G (p.Trp736Gly) c.2152T>G (p.Trp718Gly) c.1549T>G (p.Trp517Gly) c.2059T>G (p.Trp687Gly) c.1720T>G (p.Trp574Gly) c.2068T>G (p.Trp690Gly) c.2176T>G (p.Trp726Gly) c.2140T>G (p.Trp714Gly) c.2098T>G (p.Trp700Gly) c.1680-6268T>G (n.1680-6268T>G) c.2194T>G (p.Trp732Gly) c.2260T>G (p.Trp754Gly) c.2257T>G (p.Trp753Gly) c.2230T>G (p.Trp744Gly) c.2149T>G (p.Trp717Gly) c.2134T>G (p.Trp712Gly) c.1741T>G (p.Trp581Gly) c.2203T>G (p.Trp735Gly) c.2137T>G (p.Trp713Gly) c.2095T>G (p.Trp699Gly) c.1168T>G (p.Trp390Gly) | |
20 | g.63407111A>G | CA409638824 | KCNQ2 | c.2206T>C (p.Trp736Arg) c.2152T>C (p.Trp718Arg) c.1549T>C (p.Trp517Arg) c.2059T>C (p.Trp687Arg) c.1720T>C (p.Trp574Arg) c.2068T>C (p.Trp690Arg) c.2176T>C (p.Trp726Arg) c.2140T>C (p.Trp714Arg) c.2098T>C (p.Trp700Arg) c.1680-6268T>C (n.1680-6268T>C) c.2194T>C (p.Trp732Arg) c.2260T>C (p.Trp754Arg) c.2257T>C (p.Trp753Arg) c.2230T>C (p.Trp744Arg) c.2149T>C (p.Trp717Arg) c.2134T>C (p.Trp712Arg) c.1741T>C (p.Trp581Arg) c.2203T>C (p.Trp735Arg) c.2137T>C (p.Trp713Arg) c.2095T>C (p.Trp699Arg) c.1168T>C (p.Trp390Arg) | gnomAD v4 |
20 | g.63407111A>T | CA409638826 | KCNQ2 | c.2206T>A (p.Trp736Arg) c.2152T>A (p.Trp718Arg) c.1549T>A (p.Trp517Arg) c.2059T>A (p.Trp687Arg) c.1720T>A (p.Trp574Arg) c.2068T>A (p.Trp690Arg) c.2176T>A (p.Trp726Arg) c.2140T>A (p.Trp714Arg) c.2098T>A (p.Trp700Arg) c.1680-6268T>A (n.1680-6268T>A) c.2194T>A (p.Trp732Arg) c.2260T>A (p.Trp754Arg) c.2257T>A (p.Trp753Arg) c.2230T>A (p.Trp744Arg) c.2149T>A (p.Trp717Arg) c.2134T>A (p.Trp712Arg) c.1741T>A (p.Trp581Arg) c.2203T>A (p.Trp735Arg) c.2137T>A (p.Trp713Arg) c.2095T>A (p.Trp699Arg) c.1168T>A (p.Trp390Arg) | gnomAD v4 |
20 | g.63407114_63407116del | CA636614189 | KCNQ2 | c.2204_2206del (p.Ser735del) c.2150_2152del (p.Ser717del) c.1547_1549del (p.Ser516del) c.2057_2059del (p.Ser686del) c.1718_1720del (p.Ser573del) c.2066_2068del (p.Ser689del) c.2174_2176del (p.Ser725del) c.2138_2140del (p.Ser713del) c.2096_2098del (p.Ser699del) c.1680-6270_1680-6268del (n.1680-6270_1680-6268del) c.2192_2194del (p.Ser731del) c.2258_2260del (p.Ser753del) c.2255_2257del (p.Ser752del) c.2228_2230del (p.Ser743del) c.2147_2149del (p.Ser716del) c.2132_2134del (p.Ser711del) c.1739_1741del (p.Ser580del) c.2201_2203del (p.Ser734del) c.2135_2137del (p.Ser712del) c.2093_2095del (p.Ser698del) c.1166_1168del (p.Ser389del) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407112G>A | CA511339515 | KCNQ2 | c.2205C>T (p.Ser735=) c.2151C>T (p.Ser717=) c.1548C>T (p.Ser516=) c.2058C>T (p.Ser686=) c.1719C>T (p.Ser573=) c.2067C>T (p.Ser689=) c.2175C>T (p.Ser725=) c.2139C>T (p.Ser713=) c.2097C>T (p.Ser699=) c.1680-6269C>T (n.1680-6269C>T) c.2193C>T (p.Ser731=) c.2259C>T (p.Ser753=) c.2256C>T (p.Ser752=) c.2229C>T (p.Ser743=) c.2148C>T (p.Ser716=) c.2133C>T (p.Ser711=) c.1740C>T (p.Ser580=) c.2202C>T (p.Ser734=) c.2136C>T (p.Ser712=) c.2094C>T (p.Ser698=) c.1167C>T (p.Ser389=) | gnomAD v4 |
20 | g.63407112G>C | CA511339516 | KCNQ2 | c.2205C>G (p.Ser735=) c.2151C>G (p.Ser717=) c.1548C>G (p.Ser516=) c.2058C>G (p.Ser686=) c.1719C>G (p.Ser573=) c.2067C>G (p.Ser689=) c.2175C>G (p.Ser725=) c.2139C>G (p.Ser713=) c.2097C>G (p.Ser699=) c.1680-6269C>G (n.1680-6269C>G) c.2193C>G (p.Ser731=) c.2259C>G (p.Ser753=) c.2256C>G (p.Ser752=) c.2229C>G (p.Ser743=) c.2148C>G (p.Ser716=) c.2133C>G (p.Ser711=) c.1740C>G (p.Ser580=) c.2202C>G (p.Ser734=) c.2136C>G (p.Ser712=) c.2094C>G (p.Ser698=) c.1167C>G (p.Ser389=) | |
20 | g.63407112G>T | CA511339517 | KCNQ2 | c.2205C>A (p.Ser735=) c.2151C>A (p.Ser717=) c.1548C>A (p.Ser516=) c.2058C>A (p.Ser686=) c.1719C>A (p.Ser573=) c.2067C>A (p.Ser689=) c.2175C>A (p.Ser725=) c.2139C>A (p.Ser713=) c.2097C>A (p.Ser699=) c.1680-6269C>A (n.1680-6269C>A) c.2193C>A (p.Ser731=) c.2259C>A (p.Ser753=) c.2256C>A (p.Ser752=) c.2229C>A (p.Ser743=) c.2148C>A (p.Ser716=) c.2133C>A (p.Ser711=) c.1740C>A (p.Ser580=) c.2202C>A (p.Ser734=) c.2136C>A (p.Ser712=) c.2094C>A (p.Ser698=) c.1167C>A (p.Ser389=) | gnomAD v4 |
20 | g.63407113G>A | CA409638828 | KCNQ2 | c.2204C>T (p.Ser735Phe) c.2150C>T (p.Ser717Phe) c.1547C>T (p.Ser516Phe) c.2057C>T (p.Ser686Phe) c.1718C>T (p.Ser573Phe) c.2066C>T (p.Ser689Phe) c.2174C>T (p.Ser725Phe) c.2138C>T (p.Ser713Phe) c.2096C>T (p.Ser699Phe) c.1680-6270C>T (n.1680-6270C>T) c.2192C>T (p.Ser731Phe) c.2258C>T (p.Ser753Phe) c.2255C>T (p.Ser752Phe) c.2228C>T (p.Ser743Phe) c.2147C>T (p.Ser716Phe) c.2132C>T (p.Ser711Phe) c.1739C>T (p.Ser580Phe) c.2201C>T (p.Ser734Phe) c.2135C>T (p.Ser712Phe) c.2093C>T (p.Ser698Phe) c.1166C>T (p.Ser389Phe) | |
20 | g.63407113G>C | CA409638829 | KCNQ2 | c.2204C>G (p.Ser735Cys) c.2150C>G (p.Ser717Cys) c.1547C>G (p.Ser516Cys) c.2057C>G (p.Ser686Cys) c.1718C>G (p.Ser573Cys) c.2066C>G (p.Ser689Cys) c.2174C>G (p.Ser725Cys) c.2138C>G (p.Ser713Cys) c.2096C>G (p.Ser699Cys) c.1680-6270C>G (n.1680-6270C>G) c.2192C>G (p.Ser731Cys) c.2258C>G (p.Ser753Cys) c.2255C>G (p.Ser752Cys) c.2228C>G (p.Ser743Cys) c.2147C>G (p.Ser716Cys) c.2132C>G (p.Ser711Cys) c.1739C>G (p.Ser580Cys) c.2201C>G (p.Ser734Cys) c.2135C>G (p.Ser712Cys) c.2093C>G (p.Ser698Cys) c.1166C>G (p.Ser389Cys) | |
20 | g.63407113G>T | CA409638831 | KCNQ2 | c.2204C>A (p.Ser735Tyr) c.2150C>A (p.Ser717Tyr) c.1547C>A (p.Ser516Tyr) c.2057C>A (p.Ser686Tyr) c.1718C>A (p.Ser573Tyr) c.2066C>A (p.Ser689Tyr) c.2174C>A (p.Ser725Tyr) c.2138C>A (p.Ser713Tyr) c.2096C>A (p.Ser699Tyr) c.1680-6270C>A (n.1680-6270C>A) c.2192C>A (p.Ser731Tyr) c.2258C>A (p.Ser753Tyr) c.2255C>A (p.Ser752Tyr) c.2228C>A (p.Ser743Tyr) c.2147C>A (p.Ser716Tyr) c.2132C>A (p.Ser711Tyr) c.1739C>A (p.Ser580Tyr) c.2201C>A (p.Ser734Tyr) c.2135C>A (p.Ser712Tyr) c.2093C>A (p.Ser698Tyr) c.1166C>A (p.Ser389Tyr) | gnomAD v4 |
20 | g.63407114A>C | CA409638832 | KCNQ2 | c.2203T>G (p.Ser735Ala) c.2149T>G (p.Ser717Ala) c.1546T>G (p.Ser516Ala) c.2056T>G (p.Ser686Ala) c.1717T>G (p.Ser573Ala) c.2065T>G (p.Ser689Ala) c.2173T>G (p.Ser725Ala) c.2137T>G (p.Ser713Ala) c.2095T>G (p.Ser699Ala) c.1680-6271T>G (n.1680-6271T>G) c.2191T>G (p.Ser731Ala) c.2257T>G (p.Ser753Ala) c.2254T>G (p.Ser752Ala) c.2227T>G (p.Ser743Ala) c.2146T>G (p.Ser716Ala) c.2131T>G (p.Ser711Ala) c.1738T>G (p.Ser580Ala) c.2200T>G (p.Ser734Ala) c.2134T>G (p.Ser712Ala) c.2092T>G (p.Ser698Ala) c.1165T>G (p.Ser389Ala) | |
20 | g.63407114A>G | CA409638834 | KCNQ2 | c.2203T>C (p.Ser735Pro) c.2149T>C (p.Ser717Pro) c.1546T>C (p.Ser516Pro) c.2056T>C (p.Ser686Pro) c.1717T>C (p.Ser573Pro) c.2065T>C (p.Ser689Pro) c.2173T>C (p.Ser725Pro) c.2137T>C (p.Ser713Pro) c.2095T>C (p.Ser699Pro) c.1680-6271T>C (n.1680-6271T>C) c.2191T>C (p.Ser731Pro) c.2257T>C (p.Ser753Pro) c.2254T>C (p.Ser752Pro) c.2227T>C (p.Ser743Pro) c.2146T>C (p.Ser716Pro) c.2131T>C (p.Ser711Pro) c.1738T>C (p.Ser580Pro) c.2200T>C (p.Ser734Pro) c.2134T>C (p.Ser712Pro) c.2092T>C (p.Ser698Pro) c.1165T>C (p.Ser389Pro) | gnomAD v4 |
20 | g.63407114A>T | CA409638836 | KCNQ2 | c.2203T>A (p.Ser735Thr) c.2149T>A (p.Ser717Thr) c.1546T>A (p.Ser516Thr) c.2056T>A (p.Ser686Thr) c.1717T>A (p.Ser573Thr) c.2065T>A (p.Ser689Thr) c.2173T>A (p.Ser725Thr) c.2137T>A (p.Ser713Thr) c.2095T>A (p.Ser699Thr) c.1680-6271T>A (n.1680-6271T>A) c.2191T>A (p.Ser731Thr) c.2257T>A (p.Ser753Thr) c.2254T>A (p.Ser752Thr) c.2227T>A (p.Ser743Thr) c.2146T>A (p.Ser716Thr) c.2131T>A (p.Ser711Thr) c.1738T>A (p.Ser580Thr) c.2200T>A (p.Ser734Thr) c.2134T>A (p.Ser712Thr) c.2092T>A (p.Ser698Thr) c.1165T>A (p.Ser389Thr) | gnomAD v4 |
20 | g.63407115G>A | CA511339518 | KCNQ2 | c.2202C>T (p.Thr734=) c.2148C>T (p.Thr716=) c.1545C>T (p.Thr515=) c.2055C>T (p.Thr685=) c.1716C>T (p.Thr572=) c.2064C>T (p.Thr688=) c.2172C>T (p.Thr724=) c.2136C>T (p.Thr712=) c.2094C>T (p.Thr698=) c.1680-6272C>T (n.1680-6272C>T) c.2190C>T (p.Thr730=) c.2256C>T (p.Thr752=) c.2253C>T (p.Thr751=) c.2226C>T (p.Thr742=) c.2145C>T (p.Thr715=) c.2130C>T (p.Thr710=) c.1737C>T (p.Thr579=) c.2199C>T (p.Thr733=) c.2133C>T (p.Thr711=) c.2091C>T (p.Thr697=) c.1164C>T (p.Thr388=) | gnomAD v4 |
20 | g.63407115G>C | CA511339519 | KCNQ2 | c.2202C>G (p.Thr734=) c.2148C>G (p.Thr716=) c.1545C>G (p.Thr515=) c.2055C>G (p.Thr685=) c.1716C>G (p.Thr572=) c.2064C>G (p.Thr688=) c.2172C>G (p.Thr724=) c.2136C>G (p.Thr712=) c.2094C>G (p.Thr698=) c.1680-6272C>G (n.1680-6272C>G) c.2190C>G (p.Thr730=) c.2256C>G (p.Thr752=) c.2253C>G (p.Thr751=) c.2226C>G (p.Thr742=) c.2145C>G (p.Thr715=) c.2130C>G (p.Thr710=) c.1737C>G (p.Thr579=) c.2199C>G (p.Thr733=) c.2133C>G (p.Thr711=) c.2091C>G (p.Thr697=) c.1164C>G (p.Thr388=) | |
20 | g.63407115G>T | CA511339520 | KCNQ2 | c.2202C>A (p.Thr734=) c.2148C>A (p.Thr716=) c.1545C>A (p.Thr515=) c.2055C>A (p.Thr685=) c.1716C>A (p.Thr572=) c.2064C>A (p.Thr688=) c.2172C>A (p.Thr724=) c.2136C>A (p.Thr712=) c.2094C>A (p.Thr698=) c.1680-6272C>A (n.1680-6272C>A) c.2190C>A (p.Thr730=) c.2256C>A (p.Thr752=) c.2253C>A (p.Thr751=) c.2226C>A (p.Thr742=) c.2145C>A (p.Thr715=) c.2130C>A (p.Thr710=) c.1737C>A (p.Thr579=) c.2199C>A (p.Thr733=) c.2133C>A (p.Thr711=) c.2091C>A (p.Thr697=) c.1164C>A (p.Thr388=) | gnomAD v4 |
20 | g.63407116G>A | CA347943 | KCNQ2 | c.2201C>T (p.Thr734Ile) c.2147C>T (p.Thr716Ile) c.1544C>T (p.Thr515Ile) c.2054C>T (p.Thr685Ile) c.1715C>T (p.Thr572Ile) c.2063C>T (p.Thr688Ile) c.2171C>T (p.Thr724Ile) c.2135C>T (p.Thr712Ile) c.2093C>T (p.Thr698Ile) c.1680-6273C>T (n.1680-6273C>T) c.2189C>T (p.Thr730Ile) c.2255C>T (p.Thr752Ile) c.2252C>T (p.Thr751Ile) c.2225C>T (p.Thr742Ile) c.2144C>T (p.Thr715Ile) c.2129C>T (p.Thr710Ile) c.1736C>T (p.Thr579Ile) c.2198C>T (p.Thr733Ile) c.2132C>T (p.Thr711Ile) c.2090C>T (p.Thr697Ile) c.1163C>T (p.Thr388Ile) | ClinVar dbSNP gnomAD v4 |
20 | g.63407116G>C | CA409638839 | KCNQ2 | c.2201C>G (p.Thr734Ser) c.2147C>G (p.Thr716Ser) c.1544C>G (p.Thr515Ser) c.2054C>G (p.Thr685Ser) c.1715C>G (p.Thr572Ser) c.2063C>G (p.Thr688Ser) c.2171C>G (p.Thr724Ser) c.2135C>G (p.Thr712Ser) c.2093C>G (p.Thr698Ser) c.1680-6273C>G (n.1680-6273C>G) c.2189C>G (p.Thr730Ser) c.2255C>G (p.Thr752Ser) c.2252C>G (p.Thr751Ser) c.2225C>G (p.Thr742Ser) c.2144C>G (p.Thr715Ser) c.2129C>G (p.Thr710Ser) c.1736C>G (p.Thr579Ser) c.2198C>G (p.Thr733Ser) c.2132C>G (p.Thr711Ser) c.2090C>G (p.Thr697Ser) c.1163C>G (p.Thr388Ser) | |
20 | g.63407116G= | CA2374774422 | KCNQ2 | c.2201C= (p.Thr734=) c.2147C= (p.Thr716=) c.1544C= (p.Thr515=) c.2054C= (p.Thr685=) c.1715C= (p.Thr572=) c.2063C= (p.Thr688=) c.2171C= (p.Thr724=) c.2135C= (p.Thr712=) c.2093C= (p.Thr698=) c.1680-6273C= (n.1680-6273C=) c.2189C= (p.Thr730=) c.2255C= (p.Thr752=) c.2252C= (p.Thr751=) c.2225C= (p.Thr742=) c.2144C= (p.Thr715=) c.2129C= (p.Thr710=) c.1736C= (p.Thr579=) c.2198C= (p.Thr733=) c.2132C= (p.Thr711=) c.2090C= (p.Thr697=) c.1163C= (p.Thr388=) | |
20 | g.63407116G>T | CA409638841 | KCNQ2 | c.2201C>A (p.Thr734Asn) c.2147C>A (p.Thr716Asn) c.1544C>A (p.Thr515Asn) c.2054C>A (p.Thr685Asn) c.1715C>A (p.Thr572Asn) c.2063C>A (p.Thr688Asn) c.2171C>A (p.Thr724Asn) c.2135C>A (p.Thr712Asn) c.2093C>A (p.Thr698Asn) c.1680-6273C>A (n.1680-6273C>A) c.2189C>A (p.Thr730Asn) c.2255C>A (p.Thr752Asn) c.2252C>A (p.Thr751Asn) c.2225C>A (p.Thr742Asn) c.2144C>A (p.Thr715Asn) c.2129C>A (p.Thr710Asn) c.1736C>A (p.Thr579Asn) c.2198C>A (p.Thr733Asn) c.2132C>A (p.Thr711Asn) c.2090C>A (p.Thr697Asn) c.1163C>A (p.Thr388Asn) | gnomAD v4 |
20 | g.63407117T>A | CA409638844 | KCNQ2 | c.2200A>T (p.Thr734Ser) c.2146A>T (p.Thr716Ser) c.1543A>T (p.Thr515Ser) c.2053A>T (p.Thr685Ser) c.1714A>T (p.Thr572Ser) c.2062A>T (p.Thr688Ser) c.2170A>T (p.Thr724Ser) c.2134A>T (p.Thr712Ser) c.2092A>T (p.Thr698Ser) c.1680-6274A>T (n.1680-6274A>T) c.2188A>T (p.Thr730Ser) c.2254A>T (p.Thr752Ser) c.2251A>T (p.Thr751Ser) c.2224A>T (p.Thr742Ser) c.2143A>T (p.Thr715Ser) c.2128A>T (p.Thr710Ser) c.1735A>T (p.Thr579Ser) c.2197A>T (p.Thr733Ser) c.2131A>T (p.Thr711Ser) c.2089A>T (p.Thr697Ser) c.1162A>T (p.Thr388Ser) | |
20 | g.63407117T>C | CA409638846 | KCNQ2 | c.2200A>G (p.Thr734Ala) c.2146A>G (p.Thr716Ala) c.1543A>G (p.Thr515Ala) c.2053A>G (p.Thr685Ala) c.1714A>G (p.Thr572Ala) c.2062A>G (p.Thr688Ala) c.2170A>G (p.Thr724Ala) c.2134A>G (p.Thr712Ala) c.2092A>G (p.Thr698Ala) c.1680-6274A>G (n.1680-6274A>G) c.2188A>G (p.Thr730Ala) c.2254A>G (p.Thr752Ala) c.2251A>G (p.Thr751Ala) c.2224A>G (p.Thr742Ala) c.2143A>G (p.Thr715Ala) c.2128A>G (p.Thr710Ala) c.1735A>G (p.Thr579Ala) c.2197A>G (p.Thr733Ala) c.2131A>G (p.Thr711Ala) c.2089A>G (p.Thr697Ala) c.1162A>G (p.Thr388Ala) | |
20 | g.63407117T>G | CA409638843 | KCNQ2 | c.2200A>C (p.Thr734Pro) c.2146A>C (p.Thr716Pro) c.1543A>C (p.Thr515Pro) c.2053A>C (p.Thr685Pro) c.1714A>C (p.Thr572Pro) c.2062A>C (p.Thr688Pro) c.2170A>C (p.Thr724Pro) c.2134A>C (p.Thr712Pro) c.2092A>C (p.Thr698Pro) c.1680-6274A>C (n.1680-6274A>C) c.2188A>C (p.Thr730Pro) c.2254A>C (p.Thr752Pro) c.2251A>C (p.Thr751Pro) c.2224A>C (p.Thr742Pro) c.2143A>C (p.Thr715Pro) c.2128A>C (p.Thr710Pro) c.1735A>C (p.Thr579Pro) c.2197A>C (p.Thr733Pro) c.2131A>C (p.Thr711Pro) c.2089A>C (p.Thr697Pro) c.1162A>C (p.Thr388Pro) | dbSNP gnomAD v4 |
20 | g.63407117T= | CA2374774423 | KCNQ2 | c.2200A= (p.Thr734=) c.2146A= (p.Thr716=) c.1543A= (p.Thr515=) c.2053A= (p.Thr685=) c.1714A= (p.Thr572=) c.2062A= (p.Thr688=) c.2170A= (p.Thr724=) c.2134A= (p.Thr712=) c.2092A= (p.Thr698=) c.1680-6274A= (n.1680-6274A=) c.2188A= (p.Thr730=) c.2254A= (p.Thr752=) c.2251A= (p.Thr751=) c.2224A= (p.Thr742=) c.2143A= (p.Thr715=) c.2128A= (p.Thr710=) c.1735A= (p.Thr579=) c.2197A= (p.Thr733=) c.2131A= (p.Thr711=) c.2089A= (p.Thr697=) c.1162A= (p.Thr388=) |